Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source AAAS 8086 genome.wustl.edu 37 12 53703052 53703052 + Nonsense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 53703052 53703052 G C SNP AAAS ENST00000209873 human ensembl 70_37 -1 known nonsense c.824 p.S275* 0.985 pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AAAS HGNC AASDH 132949 genome.wustl.edu 37 4 57237772 57237772 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 57237772 57237772 G C SNP AASDH ENST00000205214 human ensembl 70_37 -1 known missense c.706 p.L236V 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_Acyl_carrier_prot-like,superfamily_Quinonprotein_ADH-like,superfamily_Acyl_carrier_prot-like,smart_PQQ_beta_propeller_repeat,pfscan_Acyl_carrier_prot-like - no_errors AASDH HGNC ABCA12 26154 genome.wustl.edu 37 2 215868960 215868960 + Frame_Shift_Del DEL C C - TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 215868960 215868960 C - DEL ABCA12 ENST00000272895 human ensembl 70_37 -1 known frame_shift_del c.2656 p.E886fs 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ABCA4 24 genome.wustl.edu 37 1 94463474 94463474 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 94463474 94463474 G A SNP ABCA4 ENST00000370225 human ensembl 70_37 -1 known silent c.6672 p.S2224 1.000 tigrfam_Rim_ABC_transpt pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt - no_errors ABCA4 HGNC ABCB11 8647 genome.wustl.edu 37 2 169801175 169801175 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 169801175 169801175 G A SNP ABCB11 ENST00000263817 human ensembl 70_37 -1 known silent c.2550 p.L850 0.925 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB11 HGNC ABCB7 22 genome.wustl.edu 37 X 74295395 74295395 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 74295395 74295395 C G SNP ABCB7 ENST00000253577 human ensembl 70_37 -1 known missense c.660 p.Q220H 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB7 HGNC ABCC2 1244 genome.wustl.edu 37 10 101611362 101611362 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 101611362 101611362 G A SNP ABCC2 ENST00000370449 human ensembl 70_37 +1 known missense c.4612 p.E1538K 0.831 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc - no_errors ABCC2 HGNC ABCC6 368 genome.wustl.edu 37 16 16244559 16244559 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 16244559 16244559 C T SNP ABCC6 ENST00000205557 human ensembl 70_37 -1 known missense c.4279 p.E1427K 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc - no_errors ABCC6 HGNC ABCC8 6833 genome.wustl.edu 37 11 17496434 17496434 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 17496434 17496434 C T SNP ABCC8 ENST00000302539 human ensembl 70_37 -1 known missense c.289 p.G97R 1.000 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC8 HGNC ABCD1 215 genome.wustl.edu 37 X 152991176 152991176 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 152991176 152991176 G A SNP ABCD1 ENST00000218104 human ensembl 70_37 +1 known missense c.455 p.R152H 1.000 pfam_ABC_Ald_N,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_FA_transporter pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_FA_transporter - no_errors ABCD1 HGNC ABCG1 9619 genome.wustl.edu 37 21 43702483 43702483 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 21 43702483 43702483 G C SNP ABCG1 ENST00000398437 human ensembl 70_37 +1 known missense c.1126 p.E376Q 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease - no_errors ABCG1 HGNC ABCG8 64241 genome.wustl.edu 37 2 44104968 44104968 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 44104968 44104968 C T SNP ABCG8 ENST00000272286 human ensembl 70_37 +1 known silent c.1938 p.I646 0.560 NULL pfam_ABC_2_trans,pfam_ABC_transporter-like,pfscan_ABC_transporter-like - no_errors ABCG8 HGNC ACACB 32 genome.wustl.edu 37 12 109614064 109614064 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 109614064 109614064 G C SNP ACACB ENST00000338432 human ensembl 70_37 +1 known missense c.1433 p.R478T 1.000 pfam_CbamoylP_synth_lsu-like_ATP-bd,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ACAD11 84129 genome.wustl.edu 37 3 132294659 132294659 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 132294659 132294659 C T SNP ACAD11 ENST00000264990 human ensembl 70_37 -1 known missense c.1958 p.R653Q 0.995 pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C pfam_Aminoglycoside_PTrfase,pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_DH_N,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C,superfamily_Kinase-like_dom - no_errors ACAD11 HGNC ACADS 35 genome.wustl.edu 37 12 121175684 121175684 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 121175684 121175684 G A SNP ACADS ENST00000242592 human ensembl 70_37 +1 known missense c.517 p.E173K 0.964 pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C - no_errors ACADS HGNC ACAN 176 genome.wustl.edu 37 15 89402424 89402424 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 89402424 89402424 C G SNP ACAN ENST00000439576 human ensembl 70_37 +1 known missense c.6608 p.S2203C 0.997 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors ACAN HGNC ACOT2 10965 genome.wustl.edu 37 14 74036564 74036564 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 74036564 74036564 G C SNP ACOT2 ENST00000238651 human ensembl 70_37 +1 known missense c.620 p.R207P 0.965 pirsf_Acyl-CoA_thioEstase_long-chain pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain - no_errors ACOT2 HGNC ACRC 93953 genome.wustl.edu 37 X 70832407 70832407 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 70832407 70832407 G A SNP ACRC ENST00000373695 human ensembl 70_37 +1 known silent c.1953 p.T651 0.932 pfam_SprT-like_domain,smart_SprT-like_domain pfam_SprT-like_domain,smart_SprT-like_domain - no_errors ACRC HGNC ACTG1 71 genome.wustl.edu 37 17 79479009 79479009 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 79479009 79479009 G A SNP ACTG1 ENST00000331925 human ensembl 70_37 -1 known missense c.283 p.R95C 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTG1 HGNC ACTL6A 86 genome.wustl.edu 37 3 179305797 179305797 + Nonstop_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 179305797 179305797 G C SNP ACTL6A ENST00000429709 human ensembl 70_37 +1 known nonstop c.1289 p.*430S 1.000 NULL pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTL6A HGNC ACTN4 81 genome.wustl.edu 37 19 39217615 39217615 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 39217615 39217615 G A SNP ACTN4 ENST00000252699 human ensembl 70_37 +1 known missense c.2209 p.E737K 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors ACTN4 HGNC ACTR1A 10121 genome.wustl.edu 37 10 104244060 104244060 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 104244060 104244060 C T SNP ACTR1A ENST00000369905 human ensembl 70_37 -1 known missense c.514 p.E172K 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTR1A HGNC ADAM23 8745 genome.wustl.edu 37 2 207424741 207424741 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 207424741 207424741 G A SNP ADAM23 ENST00000264377 human ensembl 70_37 +1 known silent c.1068 p.K356 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM23 HGNC ADAM28 10863 genome.wustl.edu 37 8 24193049 24193049 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 24193049 24193049 G C SNP ADAM28 ENST00000265769 human ensembl 70_37 +1 known missense c.1462 p.D488H 0.890 pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,prints_Blood-coag_inhib_Disintegrin pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM28 HGNC ADAM33 80332 genome.wustl.edu 37 20 3649569 3649569 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 3649569 3649569 G A SNP ADAM33 ENST00000466620 human ensembl 70_37 -1 known rna NULL NULL 0.109 - - - no_errors ADAM33 HGNC ADAMTS12 81792 genome.wustl.edu 37 5 33616118 33616118 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 33616118 33616118 C T SNP ADAMTS12 ENST00000504830 human ensembl 70_37 -1 known missense c.2203 p.E735K 0.998 pfam_ADAM_spacer1 pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ADAMTS14 140766 genome.wustl.edu 37 10 72517796 72517796 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 72517796 72517796 G C SNP ADAMTS14 ENST00000373208 human ensembl 70_37 +1 known missense c.3025 p.E1009Q 0.953 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS14 HGNC ADAMTS16 170690 genome.wustl.edu 37 5 5222971 5222971 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 5222971 5222971 G A SNP ADAMTS16 ENST00000274181 human ensembl 70_37 +1 known missense c.1675 p.E559K 1.000 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC ADAMTS5 11096 genome.wustl.edu 37 21 28304448 28304448 + Missense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 21 28304448 28304448 C A SNP ADAMTS5 ENST00000284987 human ensembl 70_37 -1 known missense c.1924 p.D642Y 1.000 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS5,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS5 HGNC ADAMTS8 11095 genome.wustl.edu 37 11 130275551 130275551 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 130275551 130275551 C T SNP ADAMTS8 ENST00000257359 human ensembl 70_37 -1 known missense c.2572 p.E858K 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS8,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS8 HGNC ADAMTSL4 54507 genome.wustl.edu 37 1 150529705 150529705 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 150529705 150529705 G C SNP ADAMTSL4 ENST00000369039 human ensembl 70_37 +1 known silent c.2010 p.R670 1.000 NULL pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL4 HGNC ADAMTSL4 54507 genome.wustl.edu 37 1 150530005 150530005 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 150530005 150530005 G C SNP ADAMTSL4 ENST00000369039 human ensembl 70_37 +1 known missense c.2152 p.E718Q 0.999 superfamily_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL4 HGNC ADCY1 107 genome.wustl.edu 37 7 45717777 45717777 + Nonsense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 45717777 45717777 C T SNP ADCY1 ENST00000297323 human ensembl 70_37 +1 known nonsense c.1813 p.Q605* 0.998 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY1 HGNC ADCY1 107 genome.wustl.edu 37 7 45726197 45726197 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 45726197 45726197 C G SNP ADCY1 ENST00000297323 human ensembl 70_37 +1 known silent c.2379 p.L793 0.960 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY1 HGNC ADCY10 55811 genome.wustl.edu 37 1 167839599 167839599 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 167839599 167839599 C G SNP ADCY10 ENST00000367851 human ensembl 70_37 -1 known missense c.1512 p.L504F 0.130 pirsf_Adenylate_cylcase_typ10 pfam_A/G_cyclase,superfamily_A/G_cyclase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase - no_errors ADCY10 HGNC ADCY5 111 genome.wustl.edu 37 3 123008634 123008634 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 123008634 123008634 G C SNP ADCY5 ENST00000462833 human ensembl 70_37 -1 known missense c.3495 p.I1165M 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY5 HGNC ADD1 118 genome.wustl.edu 37 4 2886370 2886370 + Nonsense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 2886370 2886370 C T SNP ADD1 ENST00000264758 human ensembl 70_37 +1 known nonsense c.487 p.Q163* 1.000 pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD1 HGNC ADD3 120 genome.wustl.edu 37 10 111884032 111884032 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 111884032 111884032 G A SNP ADD3 ENST00000356080 human ensembl 70_37 +1 known silent c.1401 p.T467 0.998 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD3 HGNC ADRA2B 151 genome.wustl.edu 37 2 96781784 96781784 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 96781784 96781784 C T SNP ADRA2B ENST00000409345 human ensembl 70_37 -1 known silent c.105 p.L35 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Adren_rcpt_A2B,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt - no_errors ADRA2B HGNC ADRB2 154 genome.wustl.edu 37 5 148207390 148207390 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 148207390 148207390 C T SNP ADRB2 ENST00000305988 human ensembl 70_37 +1 known silent c.996 p.F332 1.000 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Adrgc_rcpt_B2,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt - no_errors ADRB2 HGNC AGER 177 genome.wustl.edu 37 6 32148988 32148988 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 32148988 32148988 C G SNP AGER ENST00000375070 human ensembl 70_37 -1 known missense c.1240 p.E414Q 1.000 NULL pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors AGER HGNC AGER 177 genome.wustl.edu 37 6 32149006 32149006 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 32149006 32149006 C T SNP AGER ENST00000375070 human ensembl 70_37 -1 known missense c.1222 p.E408K 0.647 NULL pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors AGER HGNC AGGF1 55109 genome.wustl.edu 37 5 76331488 76331488 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 76331488 76331488 G C SNP AGGF1 ENST00000312916 human ensembl 70_37 +1 known missense c.436 p.E146Q 0.521 NULL pfam_FHA_dom,pfam_G_patch_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_G_patch_dom,pfscan_FHA_dom,pfscan_G_patch_dom - no_errors AGGF1 HGNC AGPAT5 55326 genome.wustl.edu 37 8 6614722 6614722 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 6614722 6614722 G A SNP AGPAT5 ENST00000285518 human ensembl 70_37 +1 known missense c.908 p.R303K 1.000 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors AGPAT5 HGNC AHNAK2 113146 genome.wustl.edu 37 14 105409512 105409512 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 105409512 105409512 C T SNP AHNAK2 ENST00000333244 human ensembl 70_37 -1 known silent c.12276 p.V4092 0.001 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC AJUBA 84962 genome.wustl.edu 37 14 23445862 23445862 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 23445862 23445862 C G SNP AJUBA ENST00000262713 human ensembl 70_37 -1 known missense c.1168 p.D390H 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors AJUBA HGNC AJUBA 84962 genome.wustl.edu 37 14 23451250 23451250 + Nonsense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 23451250 23451250 G A SNP AJUBA ENST00000262713 human ensembl 70_37 -1 known nonsense c.226 p.Q76* 0.141 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors AJUBA HGNC AK7 122481 genome.wustl.edu 37 14 96944801 96944801 + Splice_Site SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 96944801 96944801 G C SNP AK7 ENST00000267584 human ensembl 70_37 +1 known splice_site c.1556-1 e15-1 1.000 - - - no_errors AK7 HGNC AK7 122481 genome.wustl.edu 37 14 96944935 96944935 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 96944935 96944935 C T SNP AK7 ENST00000267584 human ensembl 70_37 +1 known silent c.1689 p.I563 0.004 NULL pfam_Dpy-30_motif,pfam_Adenylate_kin - no_errors AK7 HGNC AKAP13 11214 genome.wustl.edu 37 15 86128965 86128965 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 86128965 86128965 G C SNP AKAP13 ENST00000361243 human ensembl 70_37 +1 known missense c.4072 p.D1358H 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC AKR1B15 441282 genome.wustl.edu 37 7 134261723 134261723 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 134261723 134261723 C T SNP AKR1B15 ENST00000423958 human ensembl 70_37 +1 known silent c.750 p.I250 0.998 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1B15 HGNC AKR1D1 6718 genome.wustl.edu 37 7 137773510 137773510 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 137773510 137773510 G C SNP AKR1D1 ENST00000242375 human ensembl 70_37 +1 known missense c.257 p.G86A 0.673 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1D1 HGNC ALDH16A1 126133 genome.wustl.edu 37 19 49964112 49964112 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 49964112 49964112 C T SNP ALDH16A1 ENST00000293350 human ensembl 70_37 +1 known missense c.533 p.S178F 0.999 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH - no_errors ALDH16A1 HGNC ALDH16A1 126133 genome.wustl.edu 37 19 49965835 49965835 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 49965835 49965835 C G SNP ALDH16A1 ENST00000293350 human ensembl 70_37 +1 known silent c.921 p.L307 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH - no_errors ALDH16A1 HGNC ALDH1L1 10840 genome.wustl.edu 37 3 125836938 125836938 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 125836938 125836938 G C SNP ALDH1L1 ENST00000393434 human ensembl 70_37 -1 known missense c.1892 p.S631C 0.147 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_10_FTHF_DH pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like - no_errors ALDH1L1 HGNC ALDH1L2 160428 genome.wustl.edu 37 12 105456723 105456723 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 105456723 105456723 C T SNP ALDH1L2 ENST00000258494 human ensembl 70_37 -1 known silent c.864 p.K288 0.938 pfam_Formyl_trans_C,superfamily_Formyl_transferase_C-like,pirsf_10_FTHF_DH pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like - no_errors ALDH1L2 HGNC ALDH8A1 64577 genome.wustl.edu 37 6 135250315 135250315 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 135250315 135250315 C G SNP ALDH8A1 ENST00000265605 human ensembl 70_37 -1 known missense c.888 p.Q296H 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH8A1 HGNC ALDOA 226 genome.wustl.edu 37 16 30080184 30080184 + Missense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 30080184 30080184 G T SNP ALDOA ENST00000338110 human ensembl 70_37 +1 known missense c.425 p.G142V 1.000 pfam_Aldolase_I pfam_Aldolase_I - no_errors ALDOA HGNC ALDOB 229 genome.wustl.edu 37 9 104184112 104184112 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 104184112 104184112 G A SNP ALDOB ENST00000374855 human ensembl 70_37 -1 known silent c.1074 p.F358 1.000 pfam_Aldolase_I pfam_Aldolase_I - no_errors ALDOB HGNC ALG1L9P 285407 genome.wustl.edu 37 11 71512892 71512892 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 71512892 71512892 C G SNP ALG1L9P ENST00000532875 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ALG1L9P HGNC ALG9 79796 genome.wustl.edu 37 11 111680494 111680494 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 111680494 111680494 C G SNP ALG9 ENST00000531154 human ensembl 70_37 -1 known missense c.1093 p.D365H 0.992 NULL pfam_GPI_mannosylTrfase - no_errors ALG9 HGNC ALPK1 80216 genome.wustl.edu 37 4 113356438 113356438 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 113356438 113356438 C G SNP ALPK1 ENST00000177648 human ensembl 70_37 +1 known missense c.3169 p.Q1057E 1.000 pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors ALPK1 HGNC ALPK2 115701 genome.wustl.edu 37 18 56204723 56204723 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 18 56204723 56204723 G A SNP ALPK2 ENST00000361673 human ensembl 70_37 -1 known missense c.2696 p.S899L 0.011 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like - no_errors ALPK2 HGNC AMDHD2 51005 genome.wustl.edu 37 16 2578542 2578542 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 2578542 2578542 C G SNP AMDHD2 ENST00000413459 human ensembl 70_37 +1 known missense c.952 p.L318V 1.000 pfam_Amidohydro_3,superfamily_Metal-dep_hydrolase_composite pfam_Amidohydro_1,pfam_Amidohydro_3,superfamily_Metal-dep_hydrolase_composite - no_errors AMDHD2 HGNC ANK2 287 genome.wustl.edu 37 4 114280354 114280354 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 114280354 114280354 C T SNP ANK2 ENST00000357077 human ensembl 70_37 +1 known missense c.10580 p.S3527L 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ANK3 288 genome.wustl.edu 37 10 61830231 61830231 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 61830231 61830231 C G SNP ANK3 ENST00000280772 human ensembl 70_37 -1 known missense c.10408 p.E3470Q 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ANK3 288 genome.wustl.edu 37 10 61835402 61835402 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 61835402 61835402 G A SNP ANK3 ENST00000280772 human ensembl 70_37 -1 known missense c.5237 p.S1746F 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ANK3 288 genome.wustl.edu 37 10 61846553 61846553 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 61846553 61846553 C T SNP ANK3 ENST00000280772 human ensembl 70_37 -1 known silent c.3630 p.R1210 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ANKFN1 162282 genome.wustl.edu 37 17 54431374 54431374 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 54431374 54431374 C G SNP ANKFN1 ENST00000318698 human ensembl 70_37 +1 known missense c.577 p.L193V 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Fibronectin_type3,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3 - no_errors ANKFN1 HGNC ANKFY1 51479 genome.wustl.edu 37 17 4088218 4088218 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 4088218 4088218 C T SNP ANKFY1 ENST00000570535 human ensembl 70_37 -1 known missense c.1720 p.A574T 0.001 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt - no_errors ANKFY1 HGNC ANKLE1 126549 genome.wustl.edu 37 19 17396272 17396272 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 17396272 17396272 C T SNP ANKLE1 ENST00000394458 human ensembl 70_37 +1 known missense c.1409 p.S470L 0.005 NULL pfam_Ankyrin_rpt,pfam_LEM,superfamily_Ankyrin_rpt-contain_dom,superfamily_LEM-like_dom,superfamily_Lactate_DH/Glyco_Ohase_4_C,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_LEM - no_errors ANKLE1 HGNC ANKRD11 29123 genome.wustl.edu 37 16 89350571 89350571 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 89350571 89350571 C T SNP ANKRD11 ENST00000301030 human ensembl 70_37 -1 known silent c.2379 p.K793 0.925 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ANKRD20A2 441430 genome.wustl.edu 37 9 42410417 42410417 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 42410417 42410417 G C SNP ANKRD20A2 ENST00000377601 human ensembl 70_37 +1 known missense c.2406 p.E802D 0.999 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD20A2 HGNC ANKRD26P1 124149 genome.wustl.edu 37 16 46509709 46509709 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 46509709 46509709 G A SNP ANKRD26P1 ENST00000566201 human ensembl 70_37 -1 known rna NULL NULL 0.270 - - - no_errors ANKRD26P1 HGNC ANKRD26P1 124149 genome.wustl.edu 37 16 46513217 46513217 + RNA SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 46513217 46513217 C A SNP ANKRD26P1 ENST00000566201 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors ANKRD26P1 HGNC ANKRD28 23243 genome.wustl.edu 37 3 15727769 15727769 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 15727769 15727769 C G SNP ANKRD28 ENST00000383777 human ensembl 70_37 -1 known missense c.2020 p.E674Q 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD28 HGNC ANKRD32 84250 genome.wustl.edu 37 5 94006606 94006606 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 94006606 94006606 G C SNP ANKRD32 ENST00000265140 human ensembl 70_37 +1 known missense c.1720 p.E574Q 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD32 HGNC ANKS1A 23294 genome.wustl.edu 37 6 35021879 35021879 + Nonsense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 35021879 35021879 G T SNP ANKS1A ENST00000360359 human ensembl 70_37 +1 known nonsense c.2014 p.E672* 1.000 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTyr_interaction_dom,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTyr_interaction_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTyr_interaction_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS1A HGNC ANO1 55107 genome.wustl.edu 37 11 69999169 69999169 + Missense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 69999169 69999169 C A SNP ANO1 ENST00000355303 human ensembl 70_37 +1 known missense c.1360 p.P454T 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO1 HGNC ANO1 55107 genome.wustl.edu 37 11 70028677 70028677 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 70028677 70028677 G A SNP ANO1 ENST00000355303 human ensembl 70_37 +1 known missense c.2473 p.G825R 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO1 HGNC AOAH 313 genome.wustl.edu 37 7 36579973 36579973 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 36579973 36579973 C G SNP AOAH ENST00000258749 human ensembl 70_37 -1 known missense c.1258 p.D420H 1.000 pfam_Lipase_GDSL,superfamily_Esterase_SGNH_hydro-type pfam_Lipase_GDSL,pfam_SapB_2,superfamily_Saposin-like,superfamily_Esterase_SGNH_hydro-type,smart_SaposinB,pfscan_SaposinB - no_errors AOAH HGNC AP2M1 1173 genome.wustl.edu 37 3 183898925 183898925 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 183898925 183898925 G C SNP AP2M1 ENST00000292807 human ensembl 70_37 +1 known silent c.618 p.L206 1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP2M1 HGNC AP2M1 1173 genome.wustl.edu 37 3 183898974 183898974 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 183898974 183898974 G A SNP AP2M1 ENST00000292807 human ensembl 70_37 +1 known missense c.667 p.E223K 1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP2M1 HGNC AP3D1 8943 genome.wustl.edu 37 19 2114291 2114291 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 2114291 2114291 C T SNP AP3D1 ENST00000355272 human ensembl 70_37 -1 known missense c.2434 p.D812N 0.998 pfam_BLV_receptor,pirsf_AP3_complex_dsu pfam_BLV_receptor,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu - no_errors AP3D1 HGNC AP4E1 23431 genome.wustl.edu 37 15 51293237 51293237 + Nonsense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 51293237 51293237 C G SNP AP4E1 ENST00000261842 human ensembl 70_37 +1 known nonsense c.3110 p.S1037* 0.998 pfam_Coatomer_bsu_C,pirsf_AP4_complex_esu pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_bsu_C,superfamily_ARM-type_fold,pirsf_AP4_complex_esu - no_errors AP4E1 HGNC APC 324 genome.wustl.edu 37 5 112174700 112174700 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 112174700 112174700 G A SNP APC ENST00000257430 human ensembl 70_37 +1 known missense c.3409 p.D1137N 1.000 pfam_APC_15aa_rpt pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC APOB 338 genome.wustl.edu 37 2 21229833 21229833 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 21229833 21229833 C T SNP APOB ENST00000233242 human ensembl 70_37 -1 known missense c.9907 p.E3303K 0.781 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC APOB 338 genome.wustl.edu 37 2 21247862 21247862 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 21247862 21247862 C T SNP APOB ENST00000233242 human ensembl 70_37 -1 known silent c.2379 p.Q793 0.004 pfam_Vitellinogen_open_b-sht,superfamily_Lipid_transp_b-sht_shell pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC APOBEC3D 140564 genome.wustl.edu 37 22 39427902 39427902 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 39427902 39427902 C T SNP APOBEC3D ENST00000216099 human ensembl 70_37 +1 known silent c.966 p.F322 0.000 superfamily_Cytidine_deaminase-like pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC3D HGNC APOBEC3G 60489 genome.wustl.edu 37 22 39477000 39477000 + Missense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 39477000 39477000 G T SNP APOBEC3G ENST00000407997 human ensembl 70_37 +1 known missense c.234 p.R78S 0.000 pfam_APOBEC_N,superfamily_Cytidine_deaminase-like pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC3G HGNC APOBEC3G 60489 genome.wustl.edu 37 22 39477025 39477025 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 39477025 39477025 G A SNP APOBEC3G ENST00000407997 human ensembl 70_37 +1 known missense c.259 p.E87K 0.000 pfam_APOBEC_N,superfamily_Cytidine_deaminase-like pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC3G HGNC APOBR 55911 genome.wustl.edu 37 16 28507050 28507050 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 28507050 28507050 G A SNP APOBR ENST00000564831 human ensembl 70_37 +1 known missense c.688 p.E230K 0.002 NULL NULL - no_errors APOBR HGNC APOC1P1 342 genome.wustl.edu 37 19 45430229 45430229 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 45430229 45430229 C T SNP APOC1P1 ENST00000507983 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors APOC1P1 HGNC APOL3 80833 genome.wustl.edu 37 22 36537912 36537912 + Missense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 36537912 36537912 C A SNP APOL3 ENST00000349314 human ensembl 70_37 -1 known missense c.545 p.R182I 0.768 pfam_ApoL pfam_ApoL - no_errors APOL3 HGNC AQP2 359 genome.wustl.edu 37 12 50344910 50344910 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 50344910 50344910 C T SNP AQP2 ENST00000199280 human ensembl 70_37 +1 known silent c.297 p.A99 0.007 pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP - no_errors AQP2 HGNC ARAF 369 genome.wustl.edu 37 X 47428869 47428869 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 47428869 47428869 G A SNP ARAF ENST00000469505 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ARAF HGNC ARCN1 372 genome.wustl.edu 37 11 118461080 118461080 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 118461080 118461080 G C SNP ARCN1 ENST00000264028 human ensembl 70_37 +1 known missense c.843 p.K281N 1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pfscan_Clathrin_mu_C pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pfscan_Clathrin_mu_C - no_errors ARCN1 HGNC ARHGAP11A 9824 genome.wustl.edu 37 15 32917801 32917801 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 32917801 32917801 G C SNP ARHGAP11A ENST00000361627 human ensembl 70_37 +1 known missense c.829 p.E277Q 0.936 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP11A HGNC ARHGAP12 94134 genome.wustl.edu 37 10 32096154 32096154 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 32096154 32096154 C G SNP ARHGAP12 ENST00000492028 human ensembl 70_37 -1 known rna NULL NULL 0.993 - - - no_errors ARHGAP12 HGNC ARHGAP32 9743 genome.wustl.edu 37 11 128851411 128851411 + Missense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 128851411 128851411 G T SNP ARHGAP32 ENST00000310343 human ensembl 70_37 -1 known missense c.1638 p.F546L 1.000 superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP32 HGNC ARHGAP33 115703 genome.wustl.edu 37 19 36277396 36277396 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 36277396 36277396 G A SNP ARHGAP33 ENST00000007510 human ensembl 70_37 +1 known missense c.2024 p.C675Y 0.999 NULL pfam_RhoGAP_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP33 HGNC ARHGAP4 393 genome.wustl.edu 37 X 153186238 153186238 + Nonsense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 153186238 153186238 G C SNP ARHGAP4 ENST00000404127 human ensembl 70_37 -1 known nonsense c.551 p.S184* 0.911 NULL pfam_FCH,smart_FCH,pfscan_FCH - no_errors ARHGAP4 HGNC ARHGAP5 394 genome.wustl.edu 37 14 32619107 32619107 + Splice_Site SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 32619107 32619107 G C SNP ARHGAP5 ENST00000345122 human ensembl 70_37 +1 known splice_site c.3944-1 e4-1 1.000 - - - no_errors ARHGAP5 HGNC ARHGAP9 64333 genome.wustl.edu 37 12 57882491 57882491 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 57882491 57882491 C G SNP ARHGAP9 ENST00000550288 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ARHGAP9 HGNC ARHGEF3 50650 genome.wustl.edu 37 3 56787552 56787552 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 56787552 56787552 C T SNP ARHGEF3 ENST00000338458 human ensembl 70_37 -1 known missense c.514 p.D172N 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF3 HGNC ARHGEF3 50650 genome.wustl.edu 37 3 56787559 56787559 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 56787559 56787559 C G SNP ARHGEF3 ENST00000338458 human ensembl 70_37 -1 known missense c.507 p.L169F 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF3 HGNC ARHGEF4 50649 genome.wustl.edu 37 2 131674361 131674361 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 131674361 131674361 C T SNP ARHGEF4 ENST00000409359 human ensembl 70_37 +1 putative missense c.1852 p.R618C 0.002 NULL NULL - no_errors ARHGEF4 HGNC ARHGEF7 8874 genome.wustl.edu 37 13 111918015 111918015 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 111918015 111918015 C T SNP ARHGEF7 ENST00000544132 human ensembl 70_37 +1 known missense c.17 p.S6L 0.018 NULL superfamily_DH-domain - no_errors ARHGEF7 HGNC ARID1B 57492 genome.wustl.edu 37 6 157405973 157405973 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 157405973 157405973 C T SNP ARID1B ENST00000367148 human ensembl 70_37 +1 known missense c.2176 p.P726S 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1B HGNC ARID2 196528 genome.wustl.edu 37 12 46301283 46301283 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 46301283 46301283 G C SNP ARID2 ENST00000479608 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors ARID2 HGNC ARID4A 5926 genome.wustl.edu 37 14 58771670 58771670 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 58771670 58771670 G C SNP ARID4A ENST00000355431 human ensembl 70_37 +1 known silent c.126 p.L42 1.000 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,smart_Chromo_domain/shadow,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4A HGNC ARID4B 51742 genome.wustl.edu 37 1 235345845 235345845 + Frame_Shift_Del DEL C C - TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 235345845 235345845 C - DEL ARID4B ENST00000264183 human ensembl 70_37 -1 known frame_shift_del c.2389 p.E797fs 0.999 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4B HGNC ARID4B 51742 genome.wustl.edu 37 1 235345848 235345848 + Nonsense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 235345848 235345848 C A SNP ARID4B ENST00000264183 human ensembl 70_37 -1 known nonsense c.2386 p.E796* 1.000 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4B HGNC ARID4B 51742 genome.wustl.edu 37 1 235392695 235392695 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 235392695 235392695 C G SNP ARID4B ENST00000264183 human ensembl 70_37 -1 known missense c.748 p.E250Q 1.000 pfam_RBB1NT pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4B HGNC ARMC2 84071 genome.wustl.edu 37 6 109274451 109274451 + Silent SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 109274451 109274451 C A SNP ARMC2 ENST00000392644 human ensembl 70_37 +1 known silent c.1812 p.L604 0.998 superfamily_ARM-type_fold superfamily_ARM-type_fold,smart_Armadillo - no_errors ARMC2 HGNC ASAP1 50807 genome.wustl.edu 37 8 131249237 131249237 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 131249237 131249237 G A SNP ASAP1 ENST00000357668 human ensembl 70_37 -1 known silent c.190 p.L64 1.000 NULL pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP,prints_p67phox - no_errors ASAP1 HGNC ASH1L 55870 genome.wustl.edu 37 1 155327445 155327445 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 155327445 155327445 G A SNP ASH1L ENST00000368346 human ensembl 70_37 -1 known silent c.6906 p.P2302 0.039 superfamily_Bromodomain pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ASPA 443 genome.wustl.edu 37 17 3379673 3379673 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 3379673 3379673 G C SNP ASPA ENST00000263080 human ensembl 70_37 +1 known missense c.220 p.D74H 1.000 pfam_Aste_AspA,pirsf_Aspartoacylase pfam_Aste_AspA,pirsf_Aspartoacylase - no_errors ASPA HGNC ASXL3 80816 genome.wustl.edu 37 18 31323015 31323015 + Missense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 18 31323015 31323015 G T SNP ASXL3 ENST00000269197 human ensembl 70_37 +1 known missense c.3203 p.R1068L 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ATAD3C 219293 genome.wustl.edu 37 1 1403903 1403903 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 1403903 1403903 C T SNP ATAD3C ENST00000378785 human ensembl 70_37 +1 known missense c.1229 p.S410L 0.000 NULL pfam_DUF3523,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase - no_errors ATAD3C HGNC ATAD5 79915 genome.wustl.edu 37 17 29161319 29161319 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 29161319 29161319 G C SNP ATAD5 ENST00000321990 human ensembl 70_37 +1 known missense c.220 p.E74Q 0.997 NULL pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors ATAD5 HGNC ATF7IP2 80063 genome.wustl.edu 37 16 10551364 10551364 + Nonsense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 10551364 10551364 C T SNP ATF7IP2 ENST00000356427 human ensembl 70_37 +1 known nonsense c.1330 p.Q444* 0.000 NULL superfamily_Fibronectin_type3 - no_errors ATF7IP2 HGNC ATG2B 55102 genome.wustl.edu 37 14 96773233 96773233 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 96773233 96773233 G C SNP ATG2B ENST00000359933 human ensembl 70_37 -1 known missense c.4324 p.Q1442E 0.549 NULL pfam_Autophagy-rel_C - no_errors ATG2B HGNC ATL2 64225 genome.wustl.edu 37 2 38523698 38523698 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 38523698 38523698 C G SNP ATL2 ENST00000419554 human ensembl 70_37 -1 known missense c.1667 p.R556P 1.000 NULL pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C - no_errors ATL2 HGNC ATP10D 57205 genome.wustl.edu 37 4 47538781 47538781 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 47538781 47538781 G A SNP ATP10D ENST00000273859 human ensembl 70_37 +1 known missense c.1222 p.D408N 1.000 tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP10D HGNC ATP1A2 477 genome.wustl.edu 37 1 160095078 160095079 + RNA INS - - T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 160095078 160095079 - T INS ATP1A2 ENST00000468587 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors ATP1A2 HGNC ATP1A2 477 genome.wustl.edu 37 1 160095080 160095080 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 160095080 160095080 G A SNP ATP1A2 ENST00000468587 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors ATP1A2 HGNC ATP2B2 491 genome.wustl.edu 37 3 10384561 10384561 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 10384561 10384561 G A SNP ATP2B2 ENST00000352432 human ensembl 70_37 -1 known missense c.2792 p.T931M 0.997 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp_PMCA pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B2 HGNC ATP6V0D2 245972 genome.wustl.edu 37 8 87111214 87111214 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 87111214 87111214 G C SNP ATP6V0D2 ENST00000285393 human ensembl 70_37 +1 known missense c.7 p.E3Q 0.013 pirsf_ATPase_V0-cplx_dsu pfam_ATPase_V0/A0-cplx_csu/dsu,superfamily_ATPase_V0/A0-cplx_csu/dsu,pirsf_ATPase_V0-cplx_dsu - no_errors ATP6V0D2 HGNC ATP8B1 5205 genome.wustl.edu 37 18 55319361 55319361 + Nonsense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 18 55319361 55319361 G T SNP ATP8B1 ENST00000283684 human ensembl 70_37 -1 known nonsense c.3305 p.S1102* 1.000 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP8B1 HGNC ATP8B2 57198 genome.wustl.edu 37 1 154309881 154309881 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 154309881 154309881 G A SNP ATP8B2 ENST00000368489 human ensembl 70_37 +1 known missense c.994 p.E332K 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP8B2 HGNC ATRX 546 genome.wustl.edu 37 X 76762744 76762744 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 76762744 76762744 C T SNP ATRX ENST00000480283 human ensembl 70_37 -1 known rna NULL NULL 0.930 - - - no_errors ATRX HGNC ATXN2L 11273 genome.wustl.edu 37 16 28847446 28847446 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 28847446 28847446 G A SNP ATXN2L ENST00000395547 human ensembl 70_37 +1 known missense c.3088 p.E1030K 1.000 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2L HGNC AUTS2 26053 genome.wustl.edu 37 7 70252204 70252204 + Nonsense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 70252204 70252204 C G SNP AUTS2 ENST00000342771 human ensembl 70_37 +1 known nonsense c.2318 p.S773* 1.000 NULL prints_AUTS2 - no_errors AUTS2 HGNC AZI2 64343 genome.wustl.edu 37 3 28364321 28364321 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 28364321 28364321 G C SNP AZI2 ENST00000295748 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors AZI2 HGNC AZI2 64343 genome.wustl.edu 37 3 28380088 28380088 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 28380088 28380088 C T SNP AZI2 ENST00000479665 human ensembl 70_37 -1 known missense c.235 p.E79K 1.000 NULL NULL - no_errors AZI2 HGNC B3GALT5 10317 genome.wustl.edu 37 21 41032838 41032838 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 21 41032838 41032838 G A SNP B3GALT5 ENST00000343118 human ensembl 70_37 +1 known missense c.352 p.D118N 1.000 pfam_Glyco_trans_31 pfam_Glyco_trans_31 - no_errors B3GALT5 HGNC BACH2 60468 genome.wustl.edu 37 6 90718551 90718551 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 90718551 90718551 C T SNP BACH2 ENST00000257749 human ensembl 70_37 -1 known missense c.13 p.E5K 1.000 NULL pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_Euk_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP - no_errors BACH2 HGNC BAGE2 85319 genome.wustl.edu 37 21 11058273 11058273 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 21 11058273 11058273 C G SNP BAGE2 ENST00000470054 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors BAGE2 HGNC BAI1 575 genome.wustl.edu 37 8 143559620 143559620 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 143559620 143559620 G A SNP BAI1 ENST00000323289 human ensembl 70_37 +1 known missense c.1460 p.R487Q 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors BAI1 HGNC BAI2 576 genome.wustl.edu 37 1 32201189 32201189 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 32201189 32201189 C T SNP BAI2 ENST00000373658 human ensembl 70_37 -1 known silent c.3345 p.Q1115 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI2 HGNC BAI3 577 genome.wustl.edu 37 6 69728301 69728301 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 69728301 69728301 G C SNP BAI3 ENST00000370598 human ensembl 70_37 +1 known missense c.2017 p.E673Q 1.000 pfam_DUF3497 pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC BAIAP3 8938 genome.wustl.edu 37 16 1388903 1388903 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 1388903 1388903 G C SNP BAIAP3 ENST00000324385 human ensembl 70_37 +1 known missense c.237 p.W79C 0.996 NULL pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors BAIAP3 HGNC BAIAP3 8938 genome.wustl.edu 37 16 1389502 1389502 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 1389502 1389502 G C SNP BAIAP3 ENST00000324385 human ensembl 70_37 +1 known missense c.411 p.E137D 0.898 NULL pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors BAIAP3 HGNC BARX2 8538 genome.wustl.edu 37 11 129306798 129306798 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 129306798 129306798 G A SNP BARX2 ENST00000281437 human ensembl 70_37 +1 known missense c.340 p.E114K 0.997 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa - no_errors BARX2 HGNC BAZ2B 29994 genome.wustl.edu 37 2 160287406 160287406 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 160287406 160287406 G C SNP BAZ2B ENST00000392783 human ensembl 70_37 -1 known missense c.2162 p.S721C 1.000 superfamily_DNA-bd_integrase-typ pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2B HGNC BCAR3 8412 genome.wustl.edu 37 1 94079453 94079453 + Nonsense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 94079453 94079453 G C SNP BCAR3 ENST00000370247 human ensembl 70_37 -1 known nonsense c.35 p.S12* 0.993 NULL pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25 - no_errors BCAR3 HGNC BCAS4 55653 genome.wustl.edu 37 20 49458338 49458338 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 49458338 49458338 C G SNP BCAS4 ENST00000358791 human ensembl 70_37 +1 known missense c.390 p.F130L 1.000 NULL NULL - no_errors BCAS4 HGNC BCL2L12 83596 genome.wustl.edu 37 19 50169213 50169213 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 50169213 50169213 C G SNP BCL2L12 ENST00000246785 human ensembl 70_37 +1 known missense c.133 p.R45G 0.001 NULL NULL - no_errors BCL2L12 HGNC BDP1 55814 genome.wustl.edu 37 5 70805710 70805710 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 70805710 70805710 G A SNP BDP1 ENST00000358731 human ensembl 70_37 +1 known missense c.2791 p.E931K 0.019 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC BDP1 55814 genome.wustl.edu 37 5 70806877 70806877 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 70806877 70806877 G C SNP BDP1 ENST00000358731 human ensembl 70_37 +1 known missense c.3958 p.E1320Q 0.030 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC BECN1 8678 genome.wustl.edu 37 17 40963707 40963707 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 40963707 40963707 C G SNP BECN1 ENST00000361523 human ensembl 70_37 -1 known missense c.1150 p.E384Q 1.000 pfam_Beclin_fam pfam_Beclin_fam,superfamily_Translin - no_errors BECN1 HGNC BEST1 7439 genome.wustl.edu 37 11 61730086 61730086 + Nonsense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 61730086 61730086 C G SNP BEST1 ENST00000449131 human ensembl 70_37 +1 known nonsense c.1280 p.S427* 0.000 NULL pfam_Bestrophin/UPF0187 - no_errors BEST1 HGNC BGN 633 genome.wustl.edu 37 X 152772340 152772340 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 152772340 152772340 C T SNP BGN ENST00000331595 human ensembl 70_37 +1 known silent c.729 p.A243 0.050 smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan - no_errors BGN HGNC BHLHE40-AS1 100507582 genome.wustl.edu 37 3 4942300 4942300 + RNA SNP T T G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 4942300 4942300 T G SNP BHLHE40-AS1 ENST00000420832 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors BHLHE40-AS1 HGNC BIN2 51411 genome.wustl.edu 37 12 51685700 51685700 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 51685700 51685700 C G SNP BIN2 ENST00000267012 human ensembl 70_37 -1 known missense c.1190 p.G397A 0.900 NULL pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom,prints_Amphiphysin - no_errors BIN2 HGNC BNC2 54796 genome.wustl.edu 37 9 16436783 16436783 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 16436783 16436783 C G SNP BNC2 ENST00000380672 human ensembl 70_37 -1 known missense c.1409 p.R470P 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC2 HGNC BORA 79866 genome.wustl.edu 37 13 73319333 73319333 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 73319333 73319333 G A SNP BORA ENST00000390667 human ensembl 70_37 +1 known silent c.726 p.Q242 0.998 NULL prints_Aurora_borealis_protien - no_errors BORA HGNC BPIFA3 128861 genome.wustl.edu 37 20 31814183 31814183 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 31814183 31814183 C T SNP BPIFA3 ENST00000490499 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors BPIFA3 HGNC BPIFB2 80341 genome.wustl.edu 37 20 31608159 31608159 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 31608159 31608159 C G SNP BPIFB2 ENST00000170150 human ensembl 70_37 +1 known missense c.1106 p.S369C 0.959 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB2 HGNC BPIFC 254240 genome.wustl.edu 37 22 32828450 32828450 + Silent SNP T T A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 32828450 32828450 T A SNP BPIFC ENST00000300399 human ensembl 70_37 -1 known silent c.1059 p.P353 0.000 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFC HGNC BRAF 673 genome.wustl.edu 37 7 140477862 140477862 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 140477862 140477862 C T SNP BRAF ENST00000288602 human ensembl 70_37 -1 known silent c.1446 p.V482 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors BRAF HGNC BRCC3 79184 genome.wustl.edu 37 X 154306951 154306951 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 154306951 154306951 C T SNP BRCC3 ENST00000399042 human ensembl 70_37 +1 known missense c.376 p.H126Y 1.000 pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1 pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1 - no_errors BRCC3 HGNC BRD4 23476 genome.wustl.edu 37 19 15366981 15366982 + Frame_Shift_Ins INS - - T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 15366981 15366982 - T INS BRD4 ENST00000263377 human ensembl 70_37 -1 known frame_shift_ins c.1645_1644 p.E548fs 0.998:0.979 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD4 HGNC BRD4 23476 genome.wustl.edu 37 19 15366988 15366988 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 15366988 15366988 C G SNP BRD4 ENST00000263377 human ensembl 70_37 -1 known missense c.1638 p.K546N 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD4 HGNC BRD8 10902 genome.wustl.edu 37 5 137504212 137504212 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 137504212 137504212 G C SNP BRD8 ENST00000230901 human ensembl 70_37 -1 known missense c.808 p.L270V 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors BRD8 HGNC BTBD11 121551 genome.wustl.edu 37 12 108051308 108051308 + Nonsense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 108051308 108051308 C G SNP BTBD11 ENST00000280758 human ensembl 70_37 +1 known nonsense c.3128 p.S1043* 0.997 NULL pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors BTBD11 HGNC BTBD7 55727 genome.wustl.edu 37 14 93717986 93717986 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 93717986 93717986 C G SNP BTBD7 ENST00000334746 human ensembl 70_37 -1 known missense c.1765 p.E589Q 1.000 NULL pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD7 HGNC BTBD8 284697 genome.wustl.edu 37 1 92554440 92554440 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 92554440 92554440 G C SNP BTBD8 ENST00000342818 human ensembl 70_37 +1 known missense c.335 p.R112T 0.999 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors BTBD8 HGNC BYSL 705 genome.wustl.edu 37 6 41889361 41889361 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 41889361 41889361 G A SNP BYSL ENST00000230340 human ensembl 70_37 +1 known missense c.61 p.D21N 1.000 NULL pfam_Bystin - no_errors BYSL HGNC C10orf107 219621 genome.wustl.edu 37 10 63450372 63450372 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 63450372 63450372 G C SNP C10orf107 ENST00000330194 human ensembl 70_37 +1 known missense c.281 p.G94A 1.000 NULL NULL - no_errors C10orf107 HGNC C10orf71 118461 genome.wustl.edu 37 10 50533782 50533782 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 50533782 50533782 G C SNP C10orf71 ENST00000374144 human ensembl 70_37 +1 known missense c.3192 p.E1064D 0.017 NULL NULL - no_errors C10orf71 HGNC C11orf88 399949 genome.wustl.edu 37 11 111385666 111385666 + Nonsense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 111385666 111385666 C T SNP C11orf88 ENST00000529167 human ensembl 70_37 +1 known nonsense c.157 p.Q53* 0.983 NULL NULL - no_errors C11orf88 HGNC C11orf93 120376 genome.wustl.edu 37 11 111177315 111177315 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 111177315 111177315 C T SNP C11orf93 ENST00000398035 human ensembl 70_37 +1 known silent c.63 p.F21 0.619 NULL NULL - no_errors C11orf93 HGNC C13orf45 729420 genome.wustl.edu 37 13 76447803 76447803 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 76447803 76447803 C T SNP C13orf45 ENST00000318245 human ensembl 70_37 +1 known missense c.128 p.S43L 0.000 NULL NULL - no_errors C13orf45 HGNC C15orf52 388115 genome.wustl.edu 37 15 40632180 40632180 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 40632180 40632180 C G SNP C15orf52 ENST00000559313 human ensembl 70_37 -1 known missense c.181 p.E61Q 0.999 NULL NULL - no_errors C15orf52 HGNC TMEM259 91304 genome.wustl.edu 37 19 1011437 1011437 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 1011437 1011437 G C SNP C19orf6 ENST00000356663 human ensembl 70_37 -1 known silent c.1146 p.L382 1.000 pfam_Membralin pfam_Membralin - no_errors C19orf6 HGNC C1QTNF7 114905 genome.wustl.edu 37 4 15443963 15443963 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 15443963 15443963 G C SNP C1QTNF7 ENST00000429690 human ensembl 70_37 +1 known missense c.410 p.G137A 1.000 pfam_Collagen pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF7 HGNC C1orf112 55732 genome.wustl.edu 37 1 169806152 169806152 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 169806152 169806152 G C SNP C1orf112 ENST00000286031 human ensembl 70_37 +1 known missense c.1624 p.E542Q 0.096 NULL NULL - no_errors C1orf112 HGNC C1orf116 79098 genome.wustl.edu 37 1 207196378 207196378 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 207196378 207196378 G A SNP C1orf116 ENST00000359470 human ensembl 70_37 -1 known missense c.731 p.S244L 0.000 NULL NULL - no_errors C1orf116 HGNC C1orf222 85452 genome.wustl.edu 37 1 1886754 1886754 + RNA SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 1886754 1886754 C A SNP C1orf222 ENST00000468610 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors C1orf222 HGNC C20orf112 140688 genome.wustl.edu 37 20 31136382 31136382 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 31136382 31136382 G C SNP C20orf112 ENST00000485364 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors C20orf112 HGNC C20orf194 25943 genome.wustl.edu 37 20 3268354 3268354 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 3268354 3268354 C G SNP C20orf194 ENST00000252032 human ensembl 70_37 -1 known missense c.2410 p.E804Q 1.000 NULL NULL - no_errors C20orf194 HGNC C21orf59 56683 genome.wustl.edu 37 21 33984523 33984523 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 21 33984523 33984523 C G SNP C21orf59 ENST00000290155 human ensembl 70_37 -1 known missense c.31 p.E11Q 1.000 NULL pfam_DUF2870 - no_errors C21orf59 HGNC C2orf16 84226 genome.wustl.edu 37 2 27801949 27801949 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 27801949 27801949 C T SNP C2orf16 ENST00000408964 human ensembl 70_37 +1 known missense c.2510 p.S837L 0.007 NULL NULL - no_errors C2orf16 HGNC C2orf16 84226 genome.wustl.edu 37 2 27804010 27804010 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 27804010 27804010 G C SNP C2orf16 ENST00000408964 human ensembl 70_37 +1 known missense c.4571 p.R1524T 0.361 NULL NULL - no_errors C2orf16 HGNC C2orf81 388963 genome.wustl.edu 37 2 74642549 74642549 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 74642549 74642549 G A SNP C2orf81 ENST00000290390 human ensembl 70_37 -1 known missense c.674 p.S225L 0.000 NULL NULL - no_errors C2orf81 HGNC C3orf20 84077 genome.wustl.edu 37 3 14813664 14813664 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 14813664 14813664 C T SNP C3orf20 ENST00000253697 human ensembl 70_37 +1 known silent c.2586 p.A862 0.001 NULL NULL - no_errors C3orf20 HGNC C3orf67 200844 genome.wustl.edu 37 3 58852388 58852388 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 58852388 58852388 C G SNP C3orf67 ENST00000482387 human ensembl 70_37 -1 known missense c.787 p.E263Q 0.591 NULL NULL - no_errors C3orf67 HGNC SMIM20 389203 genome.wustl.edu 37 4 25930793 25930793 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 25930793 25930793 G C SNP C4orf52 ENST00000506197 human ensembl 70_37 +1 known missense c.184 p.D62H 0.997 NULL NULL - no_errors C4orf52 HGNC C5orf22 55322 genome.wustl.edu 37 5 31552926 31552926 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 31552926 31552926 C G SNP C5orf22 ENST00000325366 human ensembl 70_37 +1 known missense c.1246 p.Q416E 1.000 NULL superfamily_ICAT - no_errors C5orf22 HGNC C5orf42 65250 genome.wustl.edu 37 5 37138831 37138831 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 37138831 37138831 C T SNP C5orf42 ENST00000425232 human ensembl 70_37 -1 known missense c.8621 p.G2874D 0.000 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC C9orf84 158401 genome.wustl.edu 37 9 114521010 114521010 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 114521010 114521010 G A SNP C9orf84 ENST00000318737 human ensembl 70_37 -1 known silent c.369 p.F123 1.000 NULL superfamily_RuvA_2-like - no_errors C9orf84 HGNC C9orf91 203197 genome.wustl.edu 37 9 117396098 117396098 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 117396098 117396098 G C SNP C9orf91 ENST00000374049 human ensembl 70_37 +1 known silent c.528 p.L176 0.910 NULL NULL - no_errors C9orf91 HGNC CA8 767 genome.wustl.edu 37 8 61192272 61192272 + Nonsense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 61192272 61192272 G A SNP CA8 ENST00000317995 human ensembl 70_37 -1 known nonsense c.268 p.Q90* 1.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA8 HGNC CABIN1 23523 genome.wustl.edu 37 22 24468334 24468334 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 24468334 24468334 G C SNP CABIN1 ENST00000263119 human ensembl 70_37 +1 known missense c.2506 p.E836Q 1.000 NULL pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CABIN1 HGNC CABIN1 23523 genome.wustl.edu 37 22 24509660 24509660 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 24509660 24509660 C T SNP CABIN1 ENST00000263119 human ensembl 70_37 +1 known silent c.4245 p.L1415 0.740 NULL pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CABIN1 HGNC CABP2 51475 genome.wustl.edu 37 11 67289435 67289435 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 67289435 67289435 C T SNP CABP2 ENST00000294288 human ensembl 70_37 -1 known missense c.232 p.E78K 1.000 pfscan_EF_HAND_2 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CABP2 HGNC CACNA1A 773 genome.wustl.edu 37 19 13319680 13319680 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 13319680 13319680 C T SNP CACNA1A ENST00000360228 human ensembl 70_37 -1 known missense c.6670 p.D2224N 0.998 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC CACNA1C 775 genome.wustl.edu 37 12 2711064 2711064 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 2711064 2711064 G C SNP CACNA1C ENST00000399634 human ensembl 70_37 +1 known silent c.2898 p.R966 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC CACNA2D2 9254 genome.wustl.edu 37 3 50402378 50402378 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 50402378 50402378 G A SNP CACNA2D2 ENST00000435965 human ensembl 70_37 -1 known silent c.3262 p.L1088 1.000 NULL pfam_VWA_N,pfam_VDCC_a2/dsu,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D2 HGNC CACNB4 785 genome.wustl.edu 37 2 152698533 152698533 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 152698533 152698533 C G SNP CACNB4 ENST00000339254 human ensembl 70_37 -1 known missense c.1189 p.E397Q 1.000 pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu - no_errors CACNB4 HGNC CADPS 8618 genome.wustl.edu 37 3 62499355 62499355 + Missense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 62499355 62499355 G T SNP CADPS ENST00000283269 human ensembl 70_37 -1 known missense c.2608 p.P870T 1.000 pfam_Ca-dep_secretion_activator pfam_Ca-dep_secretion_activator,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS HGNC CALB1 793 genome.wustl.edu 37 8 91081237 91081237 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 91081237 91081237 C T SNP CALB1 ENST00000265431 human ensembl 70_37 -1 known missense c.361 p.E121K 1.000 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CALB1 HGNC CALR 811 genome.wustl.edu 37 19 13050249 13050249 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 13050249 13050249 G C SNP CALR ENST00000316448 human ensembl 70_37 +1 known missense c.201 p.Q67H 1.000 pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,pirsf_Calreticulin pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,pirsf_Calreticulin,prints_Calret/calnex - no_errors CALR HGNC CAMSAP1 157922 genome.wustl.edu 37 9 138714509 138714509 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 138714509 138714509 C G SNP CAMSAP1 ENST00000409386 human ensembl 70_37 -1 known missense c.2031 p.E677D 0.688 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain - no_errors CAMSAP1 HGNC CAPN13 92291 genome.wustl.edu 37 2 30976051 30976051 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 30976051 30976051 C G SNP CAPN13 ENST00000295055 human ensembl 70_37 -1 known missense c.955 p.D319H 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN13 HGNC CARD14 79092 genome.wustl.edu 37 17 78177625 78177625 + Nonsense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 78177625 78177625 C T SNP CARD14 ENST00000344227 human ensembl 70_37 +1 known nonsense c.2224 p.Q742* 1.000 NULL pfam_CARD,superfamily_DEATH-like,superfamily_PDZ,pfscan_CARD,pfscan_PDZ,pfscan_Guanylate_kin - no_errors CARD14 HGNC CARD14 79092 genome.wustl.edu 37 17 78177634 78177634 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 78177634 78177634 C G SNP CARD14 ENST00000344227 human ensembl 70_37 +1 known missense c.2233 p.L745V 0.995 NULL pfam_CARD,superfamily_DEATH-like,superfamily_PDZ,pfscan_CARD,pfscan_PDZ,pfscan_Guanylate_kin - no_errors CARD14 HGNC CARS2 79587 genome.wustl.edu 37 13 111299498 111299498 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 111299498 111299498 C T SNP CARS2 ENST00000257347 human ensembl 70_37 -1 known missense c.1143 p.M381I 0.975 superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Cys-tRNA-ligase pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_aa-tRNA-synth_Ia,superfamily_tRNAsynth_1a_anticodon-bd,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase - no_errors CARS2 HGNC CASKIN2 57513 genome.wustl.edu 37 17 73498414 73498414 + Nonsense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 73498414 73498414 G C SNP CASKIN2 ENST00000321617 human ensembl 70_37 -1 known nonsense c.2741 p.S914* 0.003 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt - no_errors CASKIN2 HGNC CASP16 197350 genome.wustl.edu 37 16 3199714 3199714 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 3199714 3199714 G A SNP CASP16 ENST00000428155 human ensembl 70_37 +1 known missense c.457 p.E153K 0.997 pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_p10 pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20 - no_errors CASP16 HGNC CASP2 835 genome.wustl.edu 37 7 142985551 142985552 + Frame_Shift_Ins INS - - GCGGC TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 142985551 142985552 - GCGGC INS CASP2 ENST00000310447 human ensembl 70_37 +1 known frame_shift_ins c.3_4 p.P3fs 1.000:1.000 NULL pfam_Pept_C14_cat,pfam_CARD,superfamily_DEATH-like,smart_CARD,smart_Pept_C14_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP2 HGNC CASP7 840 genome.wustl.edu 37 10 115485290 115485290 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 115485290 115485290 C T SNP CASP7 ENST00000369321 human ensembl 70_37 +1 known silent c.645 p.F215 1.000 pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP7 HGNC CASP8AP2 9994 genome.wustl.edu 37 6 90577846 90577846 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 90577846 90577846 G A SNP CASP8AP2 ENST00000237177 human ensembl 70_37 +1 known rna NULL NULL 0.959 - - - no_errors CASP8AP2 HGNC CCDC112 153733 genome.wustl.edu 37 5 114611699 114611699 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 114611699 114611699 C G SNP CCDC112 ENST00000379611 human ensembl 70_37 -1 known missense c.519 p.Q173H 0.998 NULL superfamily_Homeodomain-like - no_errors CCDC112 HGNC CCDC114 93233 genome.wustl.edu 37 19 48824026 48824026 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 48824026 48824026 G A SNP CCDC114 ENST00000497803 human ensembl 70_37 -1 known rna NULL NULL 0.434 - - - no_errors CCDC114 HGNC CCDC124 115098 genome.wustl.edu 37 19 18047326 18047326 + Nonsense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 18047326 18047326 G T SNP CCDC124 ENST00000445755 human ensembl 70_37 +1 known nonsense c.97 p.E33* 1.000 NULL pfam_DUF1014,superfamily_HMG_superfamily - no_errors CCDC124 HGNC CCDC13 152206 genome.wustl.edu 37 3 42791400 42791400 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 42791400 42791400 G C SNP CCDC13 ENST00000435327 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CCDC13 HGNC CCDC175 729665 genome.wustl.edu 37 14 60035004 60035004 + Missense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 60035004 60035004 C A SNP CCDC175 ENST00000281581 human ensembl 70_37 -1 known missense c.450 p.K150N 0.220 NULL superfamily_Prefoldin - no_errors CCDC175 HGNC CCDC82 79780 genome.wustl.edu 37 11 96117183 96117183 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 96117183 96117183 G C SNP CCDC82 ENST00000278520 human ensembl 70_37 -1 known silent c.729 p.L243 0.339 NULL NULL - no_errors CCDC82 HGNC CCDC87 55231 genome.wustl.edu 37 11 66359139 66359139 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 66359139 66359139 C G SNP CCDC87 ENST00000333861 human ensembl 70_37 -1 known missense c.1348 p.D450H 0.141 NULL pfam_MAP65_Ase1_PRC1 - no_errors CCDC87 HGNC CCDC96 257236 genome.wustl.edu 37 4 7043586 7043586 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 7043586 7043586 C T SNP CCDC96 ENST00000310085 human ensembl 70_37 -1 known silent c.1080 p.Q360 0.996 NULL NULL - no_errors CCDC96 HGNC CCNB1IP1 57820 genome.wustl.edu 37 14 20779661 20779661 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 20779661 20779661 C G SNP CCNB1IP1 ENST00000556204 human ensembl 70_37 -1 known rna NULL NULL 0.012 - - - no_errors CCNB1IP1 HGNC CCR5 1234 genome.wustl.edu 37 3 46415353 46415353 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 46415353 46415353 C T SNP CCR5 ENST00000292303 human ensembl 70_37 +1 known silent c.960 p.F320 0.531 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_rcpt,prints_GPCR_Rhodpsn,prints_Chemokine_CCR5,prints_Chemokine_CCR1,prints_ATII_rcpt - no_errors CCR5 HGNC CCRL2 9034 genome.wustl.edu 37 3 46450134 46450134 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 46450134 46450134 C G SNP CCRL2 ENST00000357392 human ensembl 70_37 +1 known missense c.600 p.F200L 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt - no_errors CCRL2 HGNC CD109 135228 genome.wustl.edu 37 6 74519827 74519827 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 74519827 74519827 C T SNP CD109 ENST00000287097 human ensembl 70_37 +1 known missense c.3476 p.S1159F 0.000 pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors CD109 HGNC CD1A 909 genome.wustl.edu 37 1 158226847 158226847 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 158226847 158226847 C T SNP CD1A ENST00000289429 human ensembl 70_37 +1 known silent c.876 p.L292 0.942 NULL pfam_Ig_C1-set,pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like - no_errors CD1A HGNC CD1B 910 genome.wustl.edu 37 1 158300813 158300813 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 158300813 158300813 G A SNP CD1B ENST00000368168 human ensembl 70_37 -1 known missense c.101 p.S34L 0.005 superfamily_MHC_I/II-like_Ag-recog pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like - no_errors CD1B HGNC CD226 10666 genome.wustl.edu 37 18 67534613 67534613 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 18 67534613 67534613 C G SNP CD226 ENST00000280200 human ensembl 70_37 -1 known missense c.865 p.E289Q 0.003 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CD226 HGNC CDC14A 8556 genome.wustl.edu 37 1 100933537 100933537 + Missense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 100933537 100933537 G T SNP CDC14A ENST00000361544 human ensembl 70_37 +1 known missense c.864 p.L288F 1.000 pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors CDC14A HGNC CDCA3 83461 genome.wustl.edu 37 12 6958994 6958994 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 6958994 6958994 C G SNP CDCA3 ENST00000538862 human ensembl 70_37 -1 known silent c.279 p.L93 0.999 NULL NULL - no_errors CDCA3 HGNC CDCA4 55038 genome.wustl.edu 37 14 105477720 105477720 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 105477720 105477720 C G SNP CDCA4 ENST00000336219 human ensembl 70_37 -1 known missense c.547 p.D183H 1.000 NULL pfam_SERTA,pfscan_SERTA - no_errors CDCA4 HGNC CDCA4 55038 genome.wustl.edu 37 14 105478048 105478048 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 105478048 105478048 C T SNP CDCA4 ENST00000336219 human ensembl 70_37 -1 known missense c.219 p.M73I 1.000 pfam_SERTA,pfscan_SERTA pfam_SERTA,pfscan_SERTA - no_errors CDCA4 HGNC CDH1 999 genome.wustl.edu 37 16 68869294 68869294 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 68869294 68869294 G A SNP CDH1 ENST00000563198 human ensembl 70_37 +1 known rna NULL NULL 0.045 - - - no_errors CDH1 HGNC CDH12 1010 genome.wustl.edu 37 5 22078958 22078958 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 22078958 22078958 C T SNP CDH12 ENST00000518209 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors CDH12 HGNC CDH15 1013 genome.wustl.edu 37 16 89251681 89251681 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 89251681 89251681 C T SNP CDH15 ENST00000289746 human ensembl 70_37 +1 known silent c.603 p.L201 0.999 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH15 HGNC CDH19 28513 genome.wustl.edu 37 18 64172444 64172444 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 18 64172444 64172444 C T SNP CDH19 ENST00000262150 human ensembl 70_37 -1 known missense c.1924 p.D642N 0.985 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH19 HGNC CDH23 64072 genome.wustl.edu 37 10 73455216 73455218 + In_Frame_Del DEL GTG GTG - TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 GTG GTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 73455216 73455218 GTG - DEL CDH23 ENST00000224721 human ensembl 70_37 +1 known in_frame_del c.2340_2342 p.W781in_frame_del 0.868:1.000:1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC CDK8 1024 genome.wustl.edu 37 13 26978201 26978201 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 26978201 26978201 C G SNP CDK8 ENST00000381527 human ensembl 70_37 +1 known missense c.1378 p.Q460E 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK8 HGNC CDKL3 51265 genome.wustl.edu 37 5 133644410 133644410 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 133644410 133644410 G A SNP CDKL3 ENST00000265334 human ensembl 70_37 -1 known missense c.890 p.P297L 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDKL3 HGNC CDKL5 6792 genome.wustl.edu 37 X 18622091 18622091 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 18622091 18622091 G A SNP CDKL5 ENST00000379989 human ensembl 70_37 +1 known silent c.1047 p.L349 0.990 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDKL5 HGNC CDRT1 374286 genome.wustl.edu 37 17 15519028 15519028 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 15519028 15519028 G C SNP CDRT1 ENST00000395906 human ensembl 70_37 -1 known missense c.601 p.Q201E 0.002 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors CDRT1 HGNC CEACAM1 634 genome.wustl.edu 37 19 43016551 43016551 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 43016551 43016551 G A SNP CEACAM1 ENST00000161559 human ensembl 70_37 -1 known silent c.1327 p.L443 0.001 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CEACAM1 HGNC CEACAM5 1048 genome.wustl.edu 37 19 42221434 42221434 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 42221434 42221434 C T SNP CEACAM5 ENST00000221992 human ensembl 70_37 +1 known missense c.1019 p.A340V 0.001 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CEACAM5 HGNC CELA3A 10136 genome.wustl.edu 37 1 22333386 22333386 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 22333386 22333386 C T SNP CELA3A ENST00000290122 human ensembl 70_37 +1 known silent c.378 p.L126 0.010 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors CELA3A HGNC CELSR2 1952 genome.wustl.edu 37 1 109793090 109793090 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 109793090 109793090 C T SNP CELSR2 ENST00000271332 human ensembl 70_37 +1 known missense c.389 p.T130I 0.183 NULL pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC CELSR3 1951 genome.wustl.edu 37 3 48681729 48681729 + Splice_Site SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 48681729 48681729 C G SNP CELSR3 ENST00000544264 human ensembl 70_37 -1 known splice_site c.8101-1 e28-1 1.000 - - - no_errors CELSR3 HGNC CEP170 9859 genome.wustl.edu 37 1 243354474 243354474 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 243354474 243354474 G C SNP CEP170 ENST00000366542 human ensembl 70_37 -1 known missense c.954 p.D318E 1.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Fibronectin_type3,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170 HGNC CEP192 55125 genome.wustl.edu 37 18 13072797 13072797 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 18 13072797 13072797 C G SNP CEP192 ENST00000506447 human ensembl 70_37 +1 known missense c.5392 p.Q1798E 1.000 NULL NULL - no_errors CEP192 HGNC CEP250 11190 genome.wustl.edu 37 20 34090757 34090757 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 34090757 34090757 G A SNP CEP250 ENST00000397527 human ensembl 70_37 +1 known silent c.4560 p.Q1520 1.000 NULL superfamily_Prefoldin - no_errors CEP250 HGNC CEP41 95681 genome.wustl.edu 37 7 130040635 130040635 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 130040635 130040635 G C SNP CEP41 ENST00000223208 human ensembl 70_37 -1 known missense c.670 p.L224V 0.958 pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom - no_errors CEP41 HGNC CEP57 9702 genome.wustl.edu 37 11 95564411 95564411 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 95564411 95564411 G C SNP CEP57 ENST00000325542 human ensembl 70_37 +1 known missense c.1494 p.W498C 1.000 NULL pfam_Cep57_MT-bd_dom - no_errors CEP57 HGNC CEP72 55722 genome.wustl.edu 37 5 633995 633995 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 633995 633995 C T SNP CEP72 ENST00000264935 human ensembl 70_37 +1 known silent c.624 p.L208 0.949 NULL smart_Leu-rich_rpt_typical-subtyp,smart_U2A'_phosphoprotein32A_C - no_errors CEP72 HGNC CEP72 55722 genome.wustl.edu 37 5 635651 635651 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 635651 635651 G C SNP CEP72 ENST00000264935 human ensembl 70_37 +1 known missense c.856 p.E286Q 0.042 NULL smart_Leu-rich_rpt_typical-subtyp,smart_U2A'_phosphoprotein32A_C - no_errors CEP72 HGNC CEP89 84902 genome.wustl.edu 37 19 33417123 33417123 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 33417123 33417123 C G SNP CEP89 ENST00000305768 human ensembl 70_37 -1 known missense c.1137 p.E379D 1.000 NULL NULL - no_errors CEP89 HGNC CEP95 90799 genome.wustl.edu 37 17 62506320 62506320 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 62506320 62506320 G C SNP CEP95 ENST00000556440 human ensembl 70_37 +1 known missense c.178 p.D60H 0.995 superfamily_CH-domain superfamily_CH-domain - no_errors CEP95 HGNC CEPT1 10390 genome.wustl.edu 37 1 111727358 111727358 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 111727358 111727358 G A SNP CEPT1 ENST00000467362 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors CEPT1 HGNC CFHR3 10878 genome.wustl.edu 37 1 196748399 196748399 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 196748399 196748399 G A SNP CFHR3 ENST00000367425 human ensembl 70_37 +1 known missense c.166 p.D56N 0.002 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR3 HGNC CGREF1 10669 genome.wustl.edu 37 2 27322670 27322670 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 27322670 27322670 C T SNP CGREF1 ENST00000452318 human ensembl 70_37 -1 known silent c.321 p.A107 0.000 NULL NULL - no_errors CGREF1 HGNC CHADL 150356 genome.wustl.edu 37 22 41634769 41634769 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 41634769 41634769 C T SNP CHADL ENST00000216241 human ensembl 70_37 -1 known missense c.307 p.E103K 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors CHADL HGNC CHD1 1105 genome.wustl.edu 37 5 98204255 98204255 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 98204255 98204255 C T SNP CHD1 ENST00000284049 human ensembl 70_37 -1 known missense c.4192 p.E1398K 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD1 HGNC CHD2 1106 genome.wustl.edu 37 15 93485094 93485094 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 93485094 93485094 C T SNP CHD2 ENST00000420239 human ensembl 70_37 +1 known silent c.735 p.L245 1.000 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CHD2 HGNC CHD3 1107 genome.wustl.edu 37 17 7802461 7802461 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 7802461 7802461 G A SNP CHD3 ENST00000330494 human ensembl 70_37 +1 known missense c.2284 p.E762K 1.000 pfam_SNF2_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD3 HGNC CHD4 1108 genome.wustl.edu 37 12 6692280 6692280 + Splice_Site SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 6692280 6692280 C G SNP CHD4 ENST00000357008 human ensembl 70_37 -1 known splice_site c.4061-1 e26-1 1.000 - - - no_errors CHD4 HGNC CHD6 84181 genome.wustl.edu 37 20 40126000 40126001 + RNA INS - - T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 40126000 40126001 - T INS CHD6 ENST00000470470 human ensembl 70_37 -1 known rna NULL NULL 0.001:0.001 - - - no_errors CHD6 HGNC CHM 1121 genome.wustl.edu 37 X 85117273 85117273 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 85117273 85117273 C G SNP CHM ENST00000467744 human ensembl 70_37 -1 known rna NULL NULL 0.055 - - - no_errors CHM HGNC CHRDL1 91851 genome.wustl.edu 37 X 110002983 110002983 + Splice_Site SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 110002983 110002983 C T SNP CHRDL1 ENST00000372042 human ensembl 70_37 -1 known splice_site c.208-1 e3-1 1.000 - - - no_errors CHRDL1 HGNC CHRNB3 1142 genome.wustl.edu 37 8 42552739 42552739 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 42552739 42552739 C T SNP CHRNB3 ENST00000289957 human ensembl 70_37 +1 known missense c.50 p.S17L 0.997 NULL pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB3 HGNC CHRNE 1145 genome.wustl.edu 37 17 4804874 4804874 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 4804874 4804874 C T SNP CHRNE ENST00000293780 human ensembl 70_37 -1 known missense c.547 p.D183N 0.104 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel - no_errors CHRNE HGNC CHST10 9486 genome.wustl.edu 37 2 101010046 101010046 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 101010046 101010046 G A SNP CHST10 ENST00000542617 human ensembl 70_37 -1 known silent c.876 p.L292 1.000 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST10 HGNC CHST3 9469 genome.wustl.edu 37 10 73767071 73767071 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 73767071 73767071 C G SNP CHST3 ENST00000373115 human ensembl 70_37 +1 known silent c.282 p.L94 0.877 pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase - no_errors CHST3 HGNC CHST4 10164 genome.wustl.edu 37 16 71571446 71571446 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 71571446 71571446 G A SNP CHST4 ENST00000338482 human ensembl 70_37 +1 known missense c.866 p.R289Q 0.000 pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase - no_errors CHST4 HGNC CIB4 130106 genome.wustl.edu 37 2 26863418 26863418 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 26863418 26863418 G A SNP CIB4 ENST00000288861 human ensembl 70_37 -1 known silent c.72 p.T24 1.000 NULL smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CIB4 HGNC CKS1B 1163 genome.wustl.edu 37 1 154951278 154951278 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 154951278 154951278 C G SNP CKS1B ENST00000471245 human ensembl 70_37 +1 known rna NULL NULL 0.030 - - - no_errors CKS1B HGNC CKS1B 1163 genome.wustl.edu 37 1 154951643 154951643 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 154951643 154951643 C T SNP CKS1B ENST00000474215 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors CKS1B HGNC CLASP1 23332 genome.wustl.edu 37 2 122363302 122363302 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 122363302 122363302 G A SNP CLASP1 ENST00000263710 human ensembl 70_37 -1 known missense c.170 p.S57F 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP1 HGNC CLDN8 9073 genome.wustl.edu 37 21 31587732 31587732 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 21 31587732 31587732 G C SNP CLDN8 ENST00000286809 human ensembl 70_37 -1 known missense c.512 p.T171R 0.999 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin8 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin8,prints_Claudin14 - no_errors CLDN8 HGNC CLTA 1211 genome.wustl.edu 37 9 36204091 36204091 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 36204091 36204091 G C SNP CLTA ENST00000464497 human ensembl 70_37 +1 known missense c.400 p.E134Q 0.998 pfam_Clathrin_L-chain pfam_Clathrin_L-chain - no_errors CLTA HGNC CMAHP 8418 genome.wustl.edu 37 6 25084933 25084933 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 25084933 25084933 G C SNP CMAHP ENST00000471416 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CMAHP HGNC CMAHP 8418 genome.wustl.edu 37 6 25097387 25097387 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 25097387 25097387 G A SNP CMAHP ENST00000377989 human ensembl 70_37 -1 known silent c.840 p.L280 0.999 NULL NULL - no_errors CMAHP HGNC CNGB3 54714 genome.wustl.edu 37 8 87590944 87590944 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 87590944 87590944 G A SNP CNGB3 ENST00000320005 human ensembl 70_37 -1 known silent c.2076 p.L692 0.216 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB3 HGNC CNN2 1265 genome.wustl.edu 37 19 1037782 1037782 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 1037782 1037782 C G SNP CNN2 ENST00000263097 human ensembl 70_37 +1 known silent c.813 p.P271 1.000 prints_Calponin pfam_Calponin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin,prints_Calponin - no_errors CNN2 HGNC CNN3 1266 genome.wustl.edu 37 1 95363403 95363403 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 95363403 95363403 G A SNP CNN3 ENST00000370206 human ensembl 70_37 -1 known silent c.885 p.I295 1.000 NULL pfam_Calponin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin,prints_Calponin - no_errors CNN3 HGNC CNTN4 152330 genome.wustl.edu 37 3 3095557 3095557 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 3095557 3095557 C T SNP CNTN4 ENST00000397461 human ensembl 70_37 +1 known missense c.2878 p.L960F 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN4 HGNC COA5 493753 genome.wustl.edu 37 2 99220620 99220620 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 99220620 99220620 C T SNP COA5 ENST00000328709 human ensembl 70_37 -1 known missense c.134 p.G45E 0.994 pfam_Cyt_c_oxidase_assmbl_Pet191 pfam_Cyt_c_oxidase_assmbl_Pet191 - no_errors COA5 HGNC COG4 25839 genome.wustl.edu 37 16 70515274 70515274 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 70515274 70515274 G A SNP COG4 ENST00000323786 human ensembl 70_37 -1 known silent c.2223 p.L741 1.000 NULL pfam_COG_su4,smart_COG_su4 - no_errors COG4 HGNC COL15A1 1306 genome.wustl.edu 37 9 101748154 101748154 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 101748154 101748154 C T SNP COL15A1 ENST00000375001 human ensembl 70_37 +1 known silent c.408 p.L136 0.993 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL15A1 HGNC COL16A1 1307 genome.wustl.edu 37 1 32118157 32118158 + RNA INS - - A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 32118157 32118158 - A INS COL16A1 ENST00000489280 human ensembl 70_37 -1 known rna NULL NULL 0.003:0.002 - - - no_errors COL16A1 HGNC COL1A1 1277 genome.wustl.edu 37 17 48262976 48262976 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 48262976 48262976 C G SNP COL1A1 ENST00000225964 human ensembl 70_37 -1 known missense c.4282 p.E1428Q 1.000 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL1A1 HGNC COL2A1 1280 genome.wustl.edu 37 12 48369760 48369760 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 48369760 48369760 C T SNP COL2A1 ENST00000380518 human ensembl 70_37 -1 known missense c.3583 p.E1195K 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL2A1 HGNC COL4A1 1282 genome.wustl.edu 37 13 110822996 110822996 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 110822996 110822996 G A SNP COL4A1 ENST00000375820 human ensembl 70_37 -1 known missense c.3640 p.P1214S 0.973 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC COL4A2 1284 genome.wustl.edu 37 13 111088663 111088663 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 111088663 111088663 C T SNP COL4A2 ENST00000360467 human ensembl 70_37 +1 known silent c.774 p.L258 0.000 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A2 HGNC COL5A1 1289 genome.wustl.edu 37 9 137622308 137622308 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 137622308 137622308 C G SNP COL5A1 ENST00000371817 human ensembl 70_37 +1 known missense c.1151 p.S384C 0.715 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A1 HGNC COL5A2 1290 genome.wustl.edu 37 2 189904060 189904060 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 189904060 189904060 G A SNP COL5A2 ENST00000374866 human ensembl 70_37 -1 known missense c.3863 p.S1288L 1.000 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL5A2 HGNC COL6A2 1292 genome.wustl.edu 37 21 47552126 47552126 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 21 47552126 47552126 C T SNP COL6A2 ENST00000300527 human ensembl 70_37 +1 known missense c.2720 p.T907I 0.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A2 HGNC COL6A5 256076 genome.wustl.edu 37 3 130124985 130124985 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 130124985 130124985 G C SNP COL6A5 ENST00000265379 human ensembl 70_37 +1 known missense c.4391 p.G1464A 0.983 pfam_Collagen pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC COL7A1 1294 genome.wustl.edu 37 3 48622354 48622354 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 48622354 48622354 G A SNP COL7A1 ENST00000328333 human ensembl 70_37 -1 known missense c.4000 p.R1334C 0.629 pfam_Collagen pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC COL9A1 1297 genome.wustl.edu 37 6 70926358 70926358 + RNA DEL T T - TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 70926358 70926358 T - DEL COL9A1 ENST00000486080 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors COL9A1 HGNC COLEC12 81035 genome.wustl.edu 37 18 333051 333051 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 18 333051 333051 C T SNP COLEC12 ENST00000400256 human ensembl 70_37 -1 known missense c.1909 p.D637N 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors COLEC12 HGNC COMMD6 170622 genome.wustl.edu 37 13 76111745 76111745 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 76111745 76111745 C T SNP COMMD6 ENST00000471682 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors COMMD6 HGNC COMMD7 149951 genome.wustl.edu 37 20 31291246 31291246 + Nonsense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 31291246 31291246 G A SNP COMMD7 ENST00000278980 human ensembl 70_37 -1 known nonsense c.541 p.Q181* 1.000 pfam_HCaRG pfam_HCaRG - no_errors COMMD7 HGNC COPA 1314 genome.wustl.edu 37 1 160276954 160276954 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 160276954 160276954 G A SNP COPA ENST00000368069 human ensembl 70_37 -1 known missense c.1301 p.S434L 1.000 pfam_Coatomer_WD-assoc_reg,pirsf_Coatomer_asu pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors COPA HGNC CPAMD8 27151 genome.wustl.edu 37 19 17039021 17039021 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 17039021 17039021 G C SNP CPAMD8 ENST00000443236 human ensembl 70_37 -1 known silent c.3309 p.S1103 1.000 pfam_Methyltransf_FA pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Prot_inh_Kazal - no_errors CPAMD8 HGNC CPEB1 64506 genome.wustl.edu 37 15 83224721 83224721 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 83224721 83224721 C G SNP CPEB1 ENST00000562019 human ensembl 70_37 -1 known missense c.758 p.R253T 1.000 NULL pfscan_RRM_dom - no_errors CPEB1 HGNC CPED1 79974 genome.wustl.edu 37 7 120691213 120691213 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 120691213 120691213 G A SNP CPED1 ENST00000495036 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CPED1 HGNC CPQ 10404 genome.wustl.edu 37 8 98041688 98041688 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 98041688 98041688 G C SNP CPQ ENST00000220763 human ensembl 70_37 +1 known missense c.1019 p.G340A 0.584 pfam_Peptidase_M28,pfam_Peptidase_M20 pfam_Peptidase_M28,pfam_Peptidase_M20 - no_errors CPQ HGNC CPXM2 119587 genome.wustl.edu 37 10 125539727 125539727 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 125539727 125539727 C T SNP CPXM2 ENST00000241305 human ensembl 70_37 -1 known missense c.934 p.D312N 0.996 NULL pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors CPXM2 HGNC CREB3L1 90993 genome.wustl.edu 37 11 46329438 46329438 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 46329438 46329438 G C SNP CREB3L1 ENST00000288400 human ensembl 70_37 +1 known missense c.403 p.E135Q 1.000 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_CREB - no_errors CREB3L1 HGNC CREB5 9586 genome.wustl.edu 37 7 28534554 28534554 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 28534554 28534554 C T SNP CREB5 ENST00000357727 human ensembl 70_37 +1 known missense c.106 p.H36Y 1.000 pirsf_TF_cAMP-dep,pfscan_Znf_C2H2 pfam_bZIP,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP - no_errors CREB5 HGNC CREBBP 1387 genome.wustl.edu 37 16 3900710 3900710 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 3900710 3900710 G A SNP CREBBP ENST00000262367 human ensembl 70_37 -1 known missense c.386 p.S129L 0.997 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC CREBBP 1387 genome.wustl.edu 37 16 3901001 3901001 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 3901001 3901001 G A SNP CREBBP ENST00000262367 human ensembl 70_37 -1 known missense c.95 p.S32L 1.000 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC CREBRF 153222 genome.wustl.edu 37 5 172518197 172518197 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 172518197 172518197 C G SNP CREBRF ENST00000540014 human ensembl 70_37 +1 known missense c.1015 p.L339V 1.000 NULL NULL - no_errors CREBRF HGNC CREM 1390 genome.wustl.edu 37 10 35456683 35456683 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 35456683 35456683 C T SNP CREM ENST00000395887 human ensembl 70_37 +1 known silent c.30 p.F10 1.000 NULL pfam_bZIP,pfam_Coactivator_CBP_pKID,smart_bZIP,pfscan_Coactivator_CBP_pKID,pfscan_bZIP,prints_Leuzip_CREB - no_errors CREM HGNC CRHR1 1394 genome.wustl.edu 37 17 43908278 43908278 + Missense_Mutation SNP A A G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 43908278 43908278 A G SNP CRHR1 ENST00000398285 human ensembl 70_37 +1 known missense c.829 p.I277V 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CRF1_rcpt,prints_GPCR_2_diuretic_rcpt - no_errors CRHR1 HGNC CRTC3 64784 genome.wustl.edu 37 15 91141768 91141768 + RNA SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 91141768 91141768 G T SNP CRTC3 ENST00000561290 human ensembl 70_37 +1 putative rna NULL NULL 0.001 - - - no_errors CRTC3 HGNC CRTC3 64784 genome.wustl.edu 37 15 91141793 91141793 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 91141793 91141793 G A SNP CRTC3 ENST00000561290 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors CRTC3 HGNC CSF1R 1436 genome.wustl.edu 37 5 149450125 149450125 + Nonsense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 149450125 149450125 G T SNP CSF1R ENST00000543093 human ensembl 70_37 -1 known nonsense c.899 p.S300* 0.203 NULL pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CSF1R HGNC CSMD1 64478 genome.wustl.edu 37 8 3141850 3141850 + Missense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 3141850 3141850 G T SNP CSMD1 ENST00000520002 human ensembl 70_37 -1 known missense c.3972 p.F1324L 0.934 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC CSMD2 114784 genome.wustl.edu 37 1 34049381 34049381 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 34049381 34049381 C G SNP CSMD2 ENST00000373381 human ensembl 70_37 -1 known silent c.7101 p.L2367 0.994 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC CSNK1G3 1456 genome.wustl.edu 37 5 122909098 122909098 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 122909098 122909098 C G SNP CSNK1G3 ENST00000360683 human ensembl 70_37 +1 known missense c.301 p.Q101E 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Casein_kinase-1_gamma_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CSNK1G3 HGNC CSPG4 1464 genome.wustl.edu 37 15 75981682 75981682 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 75981682 75981682 G A SNP CSPG4 ENST00000308508 human ensembl 70_37 -1 known missense c.1724 p.P575L 0.998 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC CTSA 5476 genome.wustl.edu 37 20 44521502 44521502 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 44521502 44521502 C T SNP CTSA ENST00000372484 human ensembl 70_37 +1 known missense c.637 p.P213S 0.897 pfam_Peptidase_S10 pfam_Peptidase_S10,prints_Peptidase_S10 - no_errors CTSA HGNC CTSD 1509 genome.wustl.edu 37 11 1780778 1780778 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 1780778 1780778 G C SNP CTSD ENST00000236671 human ensembl 70_37 -1 known missense c.320 p.S107C 0.999 pfam_Peptidase_A1,superfamily_Peptidase_aspartic pfam_Peptidase_A1,pfam_Propep_A1,superfamily_Peptidase_aspartic,prints_Peptidase_A1 - no_errors CTSD HGNC CTSH 1512 genome.wustl.edu 37 15 79217722 79217722 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 79217722 79217722 C G SNP CTSH ENST00000220166 human ensembl 70_37 -1 known missense c.760 p.E254Q 1.000 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSH HGNC CTSH 1512 genome.wustl.edu 37 15 79237225 79237225 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 79237225 79237225 C T SNP CTSH ENST00000529861 human ensembl 70_37 -1 known silent c.99 p.Q33 0.042 NULL NULL - no_errors CTSH HGNC CUL2 8453 genome.wustl.edu 37 10 35328007 35328007 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 35328007 35328007 G A SNP CUL2 ENST00000537177 human ensembl 70_37 -1 known silent c.775 p.L259 1.000 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL2 HGNC CUTA 51596 genome.wustl.edu 37 6 33385937 33385937 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 33385937 33385937 G A SNP CUTA ENST00000374500 human ensembl 70_37 -1 known missense c.26 p.S9F 0.000 NULL pfam_Ion_tolerance_CutA,superfamily_N-reg_PII-like_a/b - no_errors CUTA HGNC CUX1 1523 genome.wustl.edu 37 7 101740715 101740715 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 101740715 101740715 G A SNP CUX1 ENST00000360264 human ensembl 70_37 +1 known missense c.373 p.E125K 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors CUX1 HGNC CUX2 23316 genome.wustl.edu 37 12 111785986 111785986 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 111785986 111785986 G A SNP CUX2 ENST00000261726 human ensembl 70_37 +1 known missense c.4318 p.D1440N 0.105 NULL pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors CUX2 HGNC CWC15 51503 genome.wustl.edu 37 11 94703170 94703170 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 94703170 94703170 C G SNP CWC15 ENST00000279839 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors CWC15 HGNC CXADRP3 440224 genome.wustl.edu 37 18 14479303 14479303 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 18 14479303 14479303 C T SNP CXADRP3 ENST00000581457 human ensembl 70_37 -1 known rna NULL NULL 0.821 - - - no_errors CXADRP3 HGNC CXorf22 170063 genome.wustl.edu 37 X 35966468 35966468 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 35966468 35966468 C T SNP CXorf22 ENST00000297866 human ensembl 70_37 +1 known silent c.555 p.I185 0.004 superfamily_PapD-like superfamily_PapD-like - no_errors CXorf22 HGNC CXorf23 256643 genome.wustl.edu 37 X 19935399 19935399 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 19935399 19935399 C T SNP CXorf23 ENST00000466702 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CXorf23 HGNC CXorf57 55086 genome.wustl.edu 37 X 105876458 105876458 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 105876458 105876458 G A SNP CXorf57 ENST00000372548 human ensembl 70_37 +1 known missense c.1279 p.E427K 1.000 NULL superfamily_NA-bd_OB-fold-like - no_errors CXorf57 HGNC CXorf57 55086 genome.wustl.edu 37 X 105881224 105881224 + Nonsense_Mutation SNP T T A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 105881224 105881224 T A SNP CXorf57 ENST00000461251 human ensembl 70_37 +1 known nonsense c.1643 p.L548* 0.005 NULL superfamily_NA-bd_OB-fold-like - no_errors CXorf57 HGNC CYBRD1 79901 genome.wustl.edu 37 2 172378866 172378866 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 172378866 172378866 G C SNP CYBRD1 ENST00000468308 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors CYBRD1 HGNC CYP17A1 1586 genome.wustl.edu 37 10 104597060 104597060 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 104597060 104597060 C T SNP CYP17A1 ENST00000369887 human ensembl 70_37 -1 known missense c.59 p.R20K 0.000 NULL pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP17A1 HGNC CYP24A1 1591 genome.wustl.edu 37 20 52774666 52774666 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 52774666 52774666 C G SNP CYP24A1 ENST00000216862 human ensembl 70_37 -1 known missense c.1195 p.D399H 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_CYP24A_mit,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP24A1 HGNC CYP2A6 1548 genome.wustl.edu 37 19 41354584 41354584 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 41354584 41354584 C G SNP CYP2A6 ENST00000301141 human ensembl 70_37 -1 known missense c.428 p.R143P 0.135 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV - no_errors CYP2A6 HGNC CYP4F43P 646802 genome.wustl.edu 37 2 130807424 130807424 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 130807424 130807424 C G SNP CYP4F43P ENST00000325390 human ensembl 70_37 -1 known rna NULL NULL 0.018 - - - no_errors AC018865.8 Clone_based_vega_gene CYP7A1 1581 genome.wustl.edu 37 8 59404293 59404293 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 59404293 59404293 G C SNP CYP7A1 ENST00000301645 human ensembl 70_37 -1 known missense c.1256 p.T419R 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I - no_errors CYP7A1 HGNC DCAF12L2 340578 genome.wustl.edu 37 X 125298775 125298775 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 125298775 125298775 C T SNP DCAF12L2 ENST00000360028 human ensembl 70_37 -1 known missense c.1133 p.R378H 0.996 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L2 HGNC DCAF12L2 340578 genome.wustl.edu 37 X 125299005 125299005 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 125299005 125299005 G A SNP DCAF12L2 ENST00000360028 human ensembl 70_37 -1 known silent c.903 p.I301 0.885 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L2 HGNC DCDC2 51473 genome.wustl.edu 37 6 24289099 24289099 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 24289099 24289099 G A SNP DCDC2 ENST00000378454 human ensembl 70_37 -1 known missense c.740 p.S247F 1.000 NULL pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors DCDC2 HGNC DDB1 1642 genome.wustl.edu 37 11 61096837 61096837 + Nonsense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 61096837 61096837 G A SNP DDB1 ENST00000301764 human ensembl 70_37 -1 known nonsense c.547 p.Q183* 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors DDB1 HGNC DDIT4 54541 genome.wustl.edu 37 10 74034832 74034832 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 74034832 74034832 C T SNP DDIT4 ENST00000307365 human ensembl 70_37 +1 known silent c.585 p.S195 0.001 pfam_RTP801-like pfam_RTP801-like - no_errors DDIT4 HGNC DDRGK1 65992 genome.wustl.edu 37 20 3183919 3183919 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 3183919 3183919 G C SNP DDRGK1 ENST00000354488 human ensembl 70_37 -1 known missense c.235 p.R79G 1.000 NULL pfam_DDRGK_dom-contain - no_errors DDRGK1 HGNC DDRGK1 65992 genome.wustl.edu 37 20 3183980 3183980 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 3183980 3183980 C G SNP DDRGK1 ENST00000354488 human ensembl 70_37 -1 known silent c.174 p.P58 0.299 NULL pfam_DDRGK_dom-contain - no_errors DDRGK1 HGNC DDX1 1653 genome.wustl.edu 37 2 15769775 15769775 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 15769775 15769775 G A SNP DDX1 ENST00000233084 human ensembl 70_37 +1 known missense c.1925 p.R642K 1.000 pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_SPRY_rcpt,pfam_Helicase_C,superfamily_ConA-like_lec_gl_sf,smart_Helicase_ATP-bd,smart_SPla/RYanodine_receptor_subgr,smart_Helicase_C,pfscan_B30.2/SPRY,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX1 HGNC DDX27 55661 genome.wustl.edu 37 20 47850216 47850216 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 47850216 47850216 C T SNP DDX27 ENST00000371764 human ensembl 70_37 +1 known missense c.1336 p.R446C 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX27 HGNC DDX39A 10212 genome.wustl.edu 37 19 14520723 14520723 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 14520723 14520723 C T SNP DDX39A ENST00000454233 human ensembl 70_37 -1 known silent c.803 p.*268 0.663 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX39A HGNC DDX46 9879 genome.wustl.edu 37 5 134143547 134143547 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 134143547 134143547 G C SNP DDX46 ENST00000452510 human ensembl 70_37 +1 known silent c.2064 p.L688 0.831 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX46 HGNC DDX60 55601 genome.wustl.edu 37 4 169169377 169169377 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 169169377 169169377 G C SNP DDX60 ENST00000393743 human ensembl 70_37 -1 known missense c.3925 p.Q1309E 0.997 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60 HGNC DDX60 55601 genome.wustl.edu 37 4 169197246 169197246 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 169197246 169197246 C G SNP DDX60 ENST00000393743 human ensembl 70_37 -1 known missense c.2065 p.E689Q 0.992 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60 HGNC DEFB1 1672 genome.wustl.edu 37 8 6735347 6735347 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 6735347 6735347 G C SNP DEFB1 ENST00000297439 human ensembl 70_37 -1 known silent c.33 p.L11 0.527 NULL pfam_Defensin_beta-typ - no_errors DEFB1 HGNC DEFB116 245930 genome.wustl.edu 37 20 29896334 29896334 + Nonsense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 29896334 29896334 G A SNP DEFB116 ENST00000400549 human ensembl 70_37 -1 known nonsense c.55 p.Q19* 0.256 NULL NULL - no_errors DEFB116 HGNC DEFB119 245932 genome.wustl.edu 37 20 29965028 29965028 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 29965028 29965028 G C SNP DEFB119 ENST00000492344 human ensembl 70_37 -1 known rna NULL NULL 0.011 - - - no_errors DEFB119 HGNC DFNB31 25861 genome.wustl.edu 37 9 117266634 117266634 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 117266634 117266634 C G SNP DFNB31 ENST00000362057 human ensembl 70_37 -1 known missense c.448 p.E150Q 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors DFNB31 HGNC DGCR8 54487 genome.wustl.edu 37 22 20079118 20079118 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 20079118 20079118 C G SNP DGCR8 ENST00000351989 human ensembl 70_37 +1 known silent c.1467 p.L489 1.000 NULL pfam_Ds-RNA-bd,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Ds-RNA-bd,pfscan_WW_Rsp5_WWP,pfscan_Ds-RNA-bd - no_errors DGCR8 HGNC DGKA 1606 genome.wustl.edu 37 12 56332976 56332976 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 56332976 56332976 C G SNP DGKA ENST00000331886 human ensembl 70_37 +1 known missense c.481 p.Q161E 1.000 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKA HGNC DGUOK 1716 genome.wustl.edu 37 2 74177749 74177749 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 74177749 74177749 C G SNP DGUOK ENST00000264093 human ensembl 70_37 +1 known missense c.481 p.L161V 1.000 pfam_Deoxynucleoside_kinase pfam_Deoxynucleoside_kinase - no_errors DGUOK HGNC DHX15 1665 genome.wustl.edu 37 4 24585975 24585975 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 24585975 24585975 G C SNP DHX15 ENST00000336812 human ensembl 70_37 -1 known silent c.42 p.P14 1.000 NULL pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX15 HGNC DHX16 8449 genome.wustl.edu 37 6 30638915 30638915 + Missense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 30638915 30638915 C A SNP DHX16 ENST00000376442 human ensembl 70_37 -1 known missense c.344 p.G115V 0.254 NULL pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX16 HGNC DHX38 9785 genome.wustl.edu 37 16 72133176 72133176 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 72133176 72133176 G C SNP DHX38 ENST00000268482 human ensembl 70_37 +1 known missense c.957 p.Q319H 1.000 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX38 HGNC DIMT1 27292 genome.wustl.edu 37 5 61694524 61694524 + Silent SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 61694524 61694524 C A SNP DIMT1 ENST00000199320 human ensembl 70_37 -1 known silent c.345 p.L115 0.999 pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N,tigrfam_rRNA_adenine_dimethylase pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N,tigrfam_rRNA_adenine_dimethylase - no_errors DIMT1 HGNC DIMT1 27292 genome.wustl.edu 37 5 61694532 61694532 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 61694532 61694532 C T SNP DIMT1 ENST00000199320 human ensembl 70_37 -1 known missense c.337 p.D113N 1.000 pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N,tigrfam_rRNA_adenine_dimethylase pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N,tigrfam_rRNA_adenine_dimethylase - no_errors DIMT1 HGNC DIXDC1 85458 genome.wustl.edu 37 11 111889885 111889885 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 111889885 111889885 C G SNP DIXDC1 ENST00000389821 human ensembl 70_37 +1 known rna NULL NULL 0.969 - - - no_errors DIXDC1 HGNC DLAT 1737 genome.wustl.edu 37 11 111915924 111915924 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 111915924 111915924 C T SNP DLAT ENST00000280346 human ensembl 70_37 +1 known silent c.1260 p.F420 1.000 pfam_2-oxoacid_DH_actylTfrase,tigrfam_AcTrfase_Pyrv_DH_cplx_L pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl,tigrfam_AcTrfase_Pyrv_DH_cplx_L - no_errors DLAT HGNC DMD 1756 genome.wustl.edu 37 X 32360327 32360327 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 32360327 32360327 C T SNP DMD ENST00000357033 human ensembl 70_37 -1 known missense c.5812 p.E1938K 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC DMKN 93099 genome.wustl.edu 37 19 35996882 35996882 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 35996882 35996882 C T SNP DMKN ENST00000339686 human ensembl 70_37 -1 known missense c.1045 p.E349K 0.010 NULL NULL - no_errors DMKN HGNC DMXL2 23312 genome.wustl.edu 37 15 51773272 51773272 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 51773272 51773272 C G SNP DMXL2 ENST00000543779 human ensembl 70_37 -1 known missense c.6031 p.D2011H 0.000 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC DNAH1 25981 genome.wustl.edu 37 3 52384529 52384529 + Silent SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 52384529 52384529 G T SNP DNAH1 ENST00000420323 human ensembl 70_37 +1 known silent c.2652 p.R884 0.989 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA - no_errors DNAH1 HGNC DNAH1 25981 genome.wustl.edu 37 3 52398849 52398849 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 52398849 52398849 G A SNP DNAH1 ENST00000420323 human ensembl 70_37 +1 known missense c.5332 p.E1778K 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA - no_errors DNAH1 HGNC DNAH10 196385 genome.wustl.edu 37 12 124330576 124330576 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 124330576 124330576 G A SNP DNAH10 ENST00000409039 human ensembl 70_37 +1 known missense c.5335 p.E1779K 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase - no_errors DNAH10 HGNC DNAH10 196385 genome.wustl.edu 37 12 124363859 124363859 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 124363859 124363859 G A SNP DNAH10 ENST00000409039 human ensembl 70_37 +1 known silent c.8067 p.L2689 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase - no_errors DNAH10 HGNC DNAH10 196385 genome.wustl.edu 37 12 124416304 124416304 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 124416304 124416304 C G SNP DNAH10 ENST00000409039 human ensembl 70_37 +1 known silent c.12684 p.L4228 0.993 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase - no_errors DNAH10 HGNC DNAH10 196385 genome.wustl.edu 37 12 124416389 124416389 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 124416389 124416389 C G SNP DNAH10 ENST00000409039 human ensembl 70_37 +1 known missense c.12769 p.Q4257E 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase - no_errors DNAH10 HGNC DNAH11 8701 genome.wustl.edu 37 7 21646158 21646158 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 21646158 21646158 G C SNP DNAH11 ENST00000328843 human ensembl 70_37 +1 known missense c.3763 p.D1255H 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH11 HGNC DNAH12 201625 genome.wustl.edu 37 3 57528442 57528442 + Silent SNP T T C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 57528442 57528442 T C SNP DNAH12 ENST00000351747 human ensembl 70_37 -1 known silent c.156 p.K52 0.001 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH12 HGNC DNAH2 146754 genome.wustl.edu 37 17 7641374 7641374 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 7641374 7641374 G C SNP DNAH2 ENST00000082259 human ensembl 70_37 +1 known missense c.1264 p.G422R 0.982 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom-1 - no_errors DNAH2 HGNC DNAH2 146754 genome.wustl.edu 37 17 7644300 7644300 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 7644300 7644300 G A SNP DNAH2 ENST00000389173 human ensembl 70_37 +1 known missense c.1679 p.R560K 0.965 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors DNAH2 HGNC DNAH6 1768 genome.wustl.edu 37 2 84774646 84774646 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 84774646 84774646 G A SNP DNAH6 ENST00000237449 human ensembl 70_37 +1 known missense c.1096 p.E366K 0.383 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH6 HGNC DNAH6 1768 genome.wustl.edu 37 2 84936590 84936590 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 84936590 84936590 C T SNP DNAH6 ENST00000237449 human ensembl 70_37 +1 known missense c.9172 p.R3058C 0.997 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH6 HGNC DNAH7 56171 genome.wustl.edu 37 2 196642531 196642531 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 196642531 196642531 G C SNP DNAH7 ENST00000312428 human ensembl 70_37 -1 known missense c.11057 p.S3686C 0.996 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2 - no_errors DNAH7 HGNC DNAH7 56171 genome.wustl.edu 37 2 196753533 196753533 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 196753533 196753533 G A SNP DNAH7 ENST00000312428 human ensembl 70_37 -1 known missense c.5219 p.S1740F 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2 - no_errors DNAH7 HGNC DNAH8 1769 genome.wustl.edu 37 6 38794087 38794087 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 38794087 38794087 G A SNP DNAH8 ENST00000359357 human ensembl 70_37 +1 known missense c.3352 p.D1118N 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH8 HGNC DNAH8 1769 genome.wustl.edu 37 6 38897371 38897371 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 38897371 38897371 C G SNP DNAH8 ENST00000359357 human ensembl 70_37 +1 known missense c.10552 p.H3518D 0.976 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH8 HGNC DNAJC13 23317 genome.wustl.edu 37 3 132172523 132172523 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 132172523 132172523 G A SNP DNAJC13 ENST00000260818 human ensembl 70_37 +1 known silent c.825 p.L275 1.000 NULL pfam_DnaJ_N,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_N,pfscan_DnaJ_N - no_errors DNAJC13 HGNC DNAJC18 202052 genome.wustl.edu 37 5 138749836 138749836 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 138749836 138749836 C G SNP DNAJC18 ENST00000515559 human ensembl 70_37 -1 putative rna NULL NULL 0.494 - - - no_errors DNAJC18 HGNC DNAJC18 202052 genome.wustl.edu 37 5 138749919 138749919 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 138749919 138749919 C T SNP DNAJC18 ENST00000302060 human ensembl 70_37 -1 known missense c.995 p.R332Q 1.000 pfam_DUF1977_DnaJ-like pfam_DUF1977_DnaJ-like,pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC18 HGNC DNAJC27 51277 genome.wustl.edu 37 2 25179980 25179980 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 25179980 25179980 C T SNP DNAJC27 ENST00000264711 human ensembl 70_37 -1 known missense c.460 p.E154K 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_DnaJ_N,pfam_EF_GTP-bd_dom,superfamily_DnaJ_N,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_DnaJ_N,pfscan_DnaJ_N,prints_Small_GTPase,prints_Hsp_DnaJ,tigrfam_Small_GTP-bd_dom - no_errors DNAJC27 HGNC DOCK1 1793 genome.wustl.edu 37 10 128780198 128780198 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 128780198 128780198 C T SNP DOCK1 ENST00000280333 human ensembl 70_37 +1 known missense c.188 p.S63L 0.998 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK1 HGNC DOCK10 55619 genome.wustl.edu 37 2 225635056 225635056 + Missense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 225635056 225635056 C A SNP DOCK10 ENST00000258390 human ensembl 70_37 -1 known missense c.6316 p.D2106Y 1.000 pfam_DOCK_C,superfamily_ARM-type_fold pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK10 HGNC DOCK11 139818 genome.wustl.edu 37 X 117783038 117783038 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 117783038 117783038 G C SNP DOCK11 ENST00000276202 human ensembl 70_37 +1 known missense c.4529 p.R1510T 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK11 HGNC DOCK2 1794 genome.wustl.edu 37 5 169496194 169496194 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 169496194 169496194 G A SNP DOCK2 ENST00000256935 human ensembl 70_37 +1 known silent c.4698 p.L1566 1.000 pfam_DOCK_C,superfamily_Cyt_c_dom pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c_dom,superfamily_ARM-type_fold,superfamily_Ferritin/RNR-like,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC DOCK3 1795 genome.wustl.edu 37 3 51251581 51251581 + Silent SNP T T C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 51251581 51251581 T C SNP DOCK3 ENST00000266037 human ensembl 70_37 +1 known silent c.1155 p.R385 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC DOCK6 57572 genome.wustl.edu 37 19 11347157 11347157 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 11347157 11347157 C T SNP DOCK6 ENST00000294618 human ensembl 70_37 -1 known missense c.2257 p.V753M 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N - no_errors DOCK6 HGNC DOCK9 23348 genome.wustl.edu 37 13 99567589 99567589 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 99567589 99567589 G A SNP DOCK9 ENST00000339416 human ensembl 70_37 -1 known missense c.889 p.H297Y 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK9 HGNC DOPEY2 9980 genome.wustl.edu 37 21 37665756 37665756 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 21 37665756 37665756 G A SNP DOPEY2 ENST00000399151 human ensembl 70_37 +1 known missense c.6784 p.A2262T 0.000 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC DPCR1 135656 genome.wustl.edu 37 6 30917085 30917085 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 30917085 30917085 C G SNP DPCR1 ENST00000462446 human ensembl 70_37 +1 novel missense c.844 p.L282V 0.000 NULL NULL - no_errors DPCR1 HGNC DPEP2 64174 genome.wustl.edu 37 16 68026435 68026435 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 68026435 68026435 C G SNP DPEP2 ENST00000393847 human ensembl 70_37 -1 known missense c.368 p.R123T 0.976 pfam_Peptidase_M19 pfam_Peptidase_M19 - no_errors DPEP2 HGNC DPY19L2P1 554236 genome.wustl.edu 37 7 35161205 35161205 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 35161205 35161205 G A SNP DPY19L2P1 ENST00000458672 human ensembl 70_37 -1 known rna NULL NULL 0.994 - - - no_errors DPY19L2P1 HGNC DPY30 84661 genome.wustl.edu 37 2 32254698 32254698 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 32254698 32254698 G C SNP DPY30 ENST00000422413 human ensembl 70_37 -1 known missense c.192 p.I64M 1.000 pfam_Dpy-30_motif pfam_Dpy-30_motif - no_errors DPY30 HGNC DSE 29940 genome.wustl.edu 37 6 116754694 116754694 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 116754694 116754694 C T SNP DSE ENST00000537543 human ensembl 70_37 +1 known silent c.1156 p.L386 0.995 NULL superfamily_Chondroitin_lyas - no_errors DSE HGNC DSP 1832 genome.wustl.edu 37 6 7559466 7559466 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 7559466 7559466 C G SNP DSP ENST00000379802 human ensembl 70_37 +1 known missense c.430 p.Q144E 1.000 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC DST 667 genome.wustl.edu 37 6 56471763 56471763 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 56471763 56471763 C G SNP DST ENST00000370754 human ensembl 70_37 -1 known missense c.7564 p.E2522Q 0.004 superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC DTNA 1837 genome.wustl.edu 37 18 32418088 32418088 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 18 32418088 32418088 G A SNP DTNA ENST00000269190 human ensembl 70_37 +1 known silent c.1128 p.Q376 1.000 pirsf_Distrobrevin pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ - no_errors DTNA HGNC DTNB 1838 genome.wustl.edu 37 2 25705727 25705727 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 25705727 25705727 C T SNP DTNB ENST00000406818 human ensembl 70_37 -1 known silent c.1017 p.L339 0.998 pirsf_Distrobrevin pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ - no_errors DTNB HGNC DTX2P1-UPK3BP1-PMS2P11 441263 genome.wustl.edu 37 7 76669373 76669373 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 76669373 76669373 G C SNP DTX2P1-UPK3BP1-PMS2P11 ENST00000579700 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors DTX2P1-UPK3BP1-PMS2P11 HGNC DYNC1H1 1778 genome.wustl.edu 37 14 102467876 102467876 + Missense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 102467876 102467876 G T SNP DYNC1H1 ENST00000360184 human ensembl 70_37 +1 known missense c.4400 p.R1467I 0.965 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC DYNC1I2 1781 genome.wustl.edu 37 2 172585296 172585296 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 172585296 172585296 G A SNP DYNC1I2 ENST00000397119 human ensembl 70_37 +1 known missense c.1327 p.D443N 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I2 HGNC E2F3 1871 genome.wustl.edu 37 6 20480156 20480156 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 20480156 20480156 G A SNP E2F3 ENST00000346618 human ensembl 70_37 +1 known missense c.473 p.R158K 1.000 NULL pfam_E2F_TDP - no_errors E2F3 HGNC EDA 1896 genome.wustl.edu 37 X 69177047 69177047 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 69177047 69177047 G A SNP EDA ENST00000502251 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors EDA HGNC EEF1E1 9521 genome.wustl.edu 37 6 8097678 8097678 + Missense_Mutation SNP T T C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 8097678 8097678 T C SNP EEF1E1 ENST00000379715 human ensembl 70_37 -1 known missense c.110 p.N37S 0.999 NULL pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like - no_errors EEF1E1 HGNC EFCAB5 374786 genome.wustl.edu 37 17 28382920 28382920 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 28382920 28382920 G A SNP EFCAB5 ENST00000394835 human ensembl 70_37 +1 known missense c.2209 p.E737K 0.000 NULL pfscan_EF_HAND_2 - no_errors EFCAB5 HGNC EHHADH 1962 genome.wustl.edu 37 3 184971748 184971748 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 184971748 184971748 G A SNP EHHADH ENST00000231887 human ensembl 70_37 -1 known silent c.63 p.V21 0.994 pfam_Crotonase_core pfam_Crotonase_core,pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like - no_errors EHHADH HGNC EHMT2 10919 genome.wustl.edu 37 6 31848581 31848581 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 31848581 31848581 G A SNP EHMT2 ENST00000395728 human ensembl 70_37 -1 known silent c.3492 p.I1164 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT2 HGNC EIF3B 8662 genome.wustl.edu 37 7 2406170 2406170 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 2406170 2406170 G A SNP EIF3B ENST00000360876 human ensembl 70_37 +1 known missense c.1300 p.D434N 1.000 pirsf_eIF3b pfam_TIF2A_beta_prop-like,pfam_RRM_dom,smart_RRM_dom,pirsf_eIF3b,pfscan_RRM_dom - no_errors EIF3B HGNC EIF3D 8664 genome.wustl.edu 37 22 36913354 36913354 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 36913354 36913354 C G SNP EIF3D ENST00000216190 human ensembl 70_37 -1 known missense c.984 p.L328F 1.000 pfam_EIF-3_zeta,pirsf_EIF-3_zeta pfam_EIF-3_zeta,pirsf_EIF-3_zeta - no_errors EIF3D HGNC EIF4B 1975 genome.wustl.edu 37 12 53410310 53410310 + Nonsense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 53410310 53410310 G T SNP EIF4B ENST00000262056 human ensembl 70_37 +1 known nonsense c.67 p.E23* 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors EIF4B HGNC ELMSAN1 91748 genome.wustl.edu 37 14 74196458 74196458 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 74196458 74196458 G C SNP ELMSAN1 ENST00000286523 human ensembl 70_37 -1 known silent c.1980 p.L660 0.997 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors ELMSAN1 HGNC EMCN 51705 genome.wustl.edu 37 4 101344472 101344472 + Nonsense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 101344472 101344472 G A SNP EMCN ENST00000296420 human ensembl 70_37 -1 known nonsense c.505 p.Q169* 0.547 pfam_Endomucin pfam_Endomucin - no_errors EMCN HGNC EML4 27436 genome.wustl.edu 37 2 42490404 42490404 + Nonsense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 42490404 42490404 C G SNP EML4 ENST00000318522 human ensembl 70_37 +1 known nonsense c.599 p.S200* 1.000 NULL pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML4 HGNC EMR2 30817 genome.wustl.edu 37 19 14867138 14867138 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 14867138 14867138 C G SNP EMR2 ENST00000596991 human ensembl 70_37 -1 known missense c.1104 p.Q368H 0.001 prints_GPCR_2_CD97 pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like - no_errors EMR2 HGNC ENAH 55740 genome.wustl.edu 37 1 225706921 225706921 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 225706921 225706921 C T SNP ENAH ENST00000366844 human ensembl 70_37 -1 known missense c.781 p.E261K 1.000 NULL pfam_EVH1,pfam_VASP_tetra,smart_EVH1,pfscan_EVH1 - no_errors ENAH HGNC ENPP3 5169 genome.wustl.edu 37 6 132061484 132061484 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 132061484 132061484 C T SNP ENPP3 ENST00000357639 human ensembl 70_37 +1 known silent c.2421 p.I807 0.994 pfam_DNA/RNA_non-sp_Endonuclease,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom - no_errors ENPP3 HGNC ENSG00000170858 0 genome.wustl.edu 37 19 55221572 55221572 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 55221572 55221572 G A SNP ENSG00000170858 ENST00000413439 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC006293.3 Clone_based_vega_gene ENSG00000178932 0 genome.wustl.edu 37 17 73817463 73817463 + Missense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 73817463 73817463 C A SNP ENSG00000178932 ENST00000326348 human ensembl 70_37 -1 known missense c.492 p.R164S 0.000 NULL NULL - no_errors AC087289.1 Clone_based_ensembl_gene ENSG00000180574 0 genome.wustl.edu 37 12 10658646 10658646 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 10658646 10658646 C T SNP ENSG00000180574 ENST00000538173 human ensembl 70_37 +1 known missense c.145 p.H49Y 1.000 pfam_EF_GTP-bd_dom,prints_EF_GTP-bd_dom pfam_EF_GTP-bd_dom,pfam_TIF2_gsu_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_EF_GTP-bd_dom - no_errors EIF2S3L Uniprot_genename ENSG00000186322 0 genome.wustl.edu 37 15 82808975 82808975 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 82808975 82808975 G C SNP ENSG00000186322 ENST00000306827 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP13-608F4.1 Clone_based_vega_gene ENSG00000196364 0 genome.wustl.edu 37 16 1312877 1312877 + RNA SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 1312877 1312877 G T SNP ENSG00000196364 ENST00000440800 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-616M22.6 Clone_based_vega_gene ENSG00000204620 0 genome.wustl.edu 37 X 48433150 48433150 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 48433150 48433150 G C SNP ENSG00000204620 ENST00000376775 human ensembl 70_37 -1 known silent c.99 p.L33 0.000 NULL NULL - no_errors AC115618.1 Clone_based_ensembl_gene ENSG00000204990 0 genome.wustl.edu 37 7 141116156 141116156 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 141116156 141116156 G A SNP ENSG00000204990 ENST00000461145 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP5-842K16.1 Clone_based_vega_gene ENSG00000205790 0 genome.wustl.edu 37 19 4684487 4684487 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 4684487 4684487 G C SNP ENSG00000205790 ENST00000381796 human ensembl 70_37 +1 known rna NULL NULL 0.050 - - - no_errors AC005594.3 Clone_based_vega_gene ENSG00000205790 0 genome.wustl.edu 37 19 4684637 4684637 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 4684637 4684637 G C SNP ENSG00000205790 ENST00000381796 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC005594.3 Clone_based_vega_gene ENSG00000213492 0 genome.wustl.edu 37 4 118496561 118496561 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 118496561 118496561 C T SNP ENSG00000213492 ENST00000441170 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors AC092661.2 Clone_based_vega_gene ENSG00000215231 0 genome.wustl.edu 37 5 5034588 5034588 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 5034588 5034588 G A SNP ENSG00000215231 ENST00000508201 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors CTD-2247C11.3 Clone_based_vega_gene ENSG00000218672 0 genome.wustl.edu 37 7 155187767 155187767 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 155187767 155187767 G C SNP ENSG00000218672 ENST00000401499 human ensembl 70_37 +1 putative missense c.219 p.W73C 0.002 NULL NULL - no_errors AC008060.7 Clone_based_vega_gene ENSG00000222005 0 genome.wustl.edu 37 2 47044026 47044026 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 47044026 47044026 G A SNP ENSG00000222005 ENST00000409912 human ensembl 70_37 +1 putative silent c.63 p.V21 0.073 NULL NULL - no_errors AC016722.1 Clone_based_vega_gene ENSG00000222888 0 genome.wustl.edu 37 3 53916229 53916229 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 53916229 53916229 C G SNP ENSG00000222888 ENST00000410956 human ensembl 70_37 -1 novel rna NULL NULL 0.002 - - - no_errors AC012467.1 Clone_based_ensembl_gene ENSG00000230028 0 genome.wustl.edu 37 X 75108937 75108937 + RNA SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 75108937 75108937 C A SNP ENSG00000230028 ENST00000431331 human ensembl 70_37 +1 known rna NULL NULL 0.118 - - - no_errors RP11-212D3.3 Clone_based_vega_gene ENSG00000231050 0 genome.wustl.edu 37 1 1823929 1823929 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 1823929 1823929 C T SNP ENSG00000231050 ENST00000412228 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP1-140A9.1 Clone_based_vega_gene ENSG00000231064 0 genome.wustl.edu 37 1 155166667 155166667 + RNA SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 155166667 155166667 G T SNP ENSG00000231064 ENST00000447623 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors RP11-263K19.4 Clone_based_vega_gene ENSG00000233836 0 genome.wustl.edu 37 19 24014497 24014497 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 24014497 24014497 G C SNP ENSG00000233836 ENST00000471224 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors RP11-255H23.2 Clone_based_vega_gene ENSG00000234678 0 genome.wustl.edu 37 1 201970279 201970279 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 201970279 201970279 G C SNP ENSG00000234678 ENST00000415582 human ensembl 70_37 -1 known rna NULL NULL 0.976 - - - no_errors RP11-465N4.4 Clone_based_vega_gene ENSG00000235999 0 genome.wustl.edu 37 1 149288052 149288052 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 149288052 149288052 C G SNP ENSG00000235999 ENST00000433084 human ensembl 70_37 +1 known rna NULL NULL 0.023 - - - no_errors RP11-403I13.8 Clone_based_vega_gene ENSG00000238021 0 genome.wustl.edu 37 10 27551908 27551908 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 27551908 27551908 G C SNP ENSG00000238021 ENST00000576034 human ensembl 70_37 +1 known rna NULL NULL 0.024 - - - no_errors RP11-748L13.1 Clone_based_vega_gene ENSG00000238261 0 genome.wustl.edu 37 1 143378289 143378289 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 143378289 143378289 G A SNP ENSG00000238261 ENST00000428624 human ensembl 70_37 +1 known rna NULL NULL 0.026 - - - no_errors BX004987.5 Clone_based_vega_gene ENSG00000238261 0 genome.wustl.edu 37 1 143398977 143398977 + RNA SNP A A G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 143398977 143398977 A G SNP ENSG00000238261 ENST00000458155 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors BX004987.5 Clone_based_vega_gene ENSG00000238273 0 genome.wustl.edu 37 2 105994559 105994559 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 105994559 105994559 G C SNP ENSG00000238273 ENST00000457290 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC012360.6 Clone_based_vega_gene ENSG00000239642 0 genome.wustl.edu 37 5 131269277 131269277 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 131269277 131269277 G C SNP ENSG00000239642 ENST00000425320 human ensembl 70_37 -1 known rna NULL NULL 0.171 - - - no_errors AC034228.7 Clone_based_vega_gene ENSG00000248603 0 genome.wustl.edu 37 22 31500253 31500253 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 31500253 31500253 G A SNP ENSG00000248603 ENST00000504335 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors RP3-412A9.10 Clone_based_vega_gene ENSG00000248710 0 genome.wustl.edu 37 3 160156451 160156451 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 160156451 160156451 G A SNP ENSG00000248710 ENST00000483754 human ensembl 70_37 -1 known missense c.521 p.S174F 0.915 NULL pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_WD40_repeat_dom,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_B-box,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TRIM59 Uniprot_genename ENSG00000249194 0 genome.wustl.edu 37 2 166930156 166930156 + RNA SNP A A G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 166930156 166930156 A G SNP ENSG00000249194 ENST00000507401 human ensembl 70_37 -1 putative rna NULL NULL 1.000 - - - no_errors AC010127.4 Clone_based_vega_gene ENSG00000249690 0 genome.wustl.edu 37 4 151500299 151500299 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 151500299 151500299 C G SNP ENSG00000249690 ENST00000507934 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors RP11-1336O20.2 Clone_based_vega_gene ENSG00000249913 0 genome.wustl.edu 37 1 112958681 112958681 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 112958681 112958681 G A SNP ENSG00000249913 ENST00000502356 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP4-671G15.2 Clone_based_vega_gene ENSG00000250906 0 genome.wustl.edu 37 4 40827834 40827834 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 40827834 40827834 C T SNP ENSG00000250906 ENST00000513127 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-632F7.3 Clone_based_vega_gene ENSG00000254154 0 genome.wustl.edu 37 1 177929422 177929422 + RNA SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 177929422 177929422 G T SNP ENSG00000254154 ENST00000466953 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP4-798P15.3 Clone_based_vega_gene ENSG00000255182 0 genome.wustl.edu 37 8 145730362 145730362 + RNA SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 145730362 145730362 C A SNP ENSG00000255182 ENST00000527086 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2517M22.14 Clone_based_vega_gene ENSG00000255895 0 genome.wustl.edu 37 12 10332090 10332090 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 10332090 10332090 C G SNP ENSG00000255895 ENST00000541344 human ensembl 70_37 -1 known rna NULL NULL 0.018 - - - no_errors RP11-656E20.3 Clone_based_vega_gene ENSG00000256428 0 genome.wustl.edu 37 11 61546366 61546366 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 61546366 61546366 C G SNP ENSG00000256428 ENST00000535042 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-467L20.9 Clone_based_vega_gene ENSG00000256632 0 genome.wustl.edu 37 12 133281324 133281324 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 133281324 133281324 C T SNP ENSG00000256632 ENST00000540119 human ensembl 70_37 +1 known missense c.253 p.H85Y 0.000 NULL NULL - no_errors PXMP2 Uniprot_genename ENSG00000257359 0 genome.wustl.edu 37 12 114374727 114374727 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 114374727 114374727 G A SNP ENSG00000257359 ENST00000550206 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-780K2.1 Clone_based_vega_gene ENSG00000258252 0 genome.wustl.edu 37 14 19563164 19563164 + RNA SNP T T C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 19563164 19563164 T C SNP ENSG00000258252 ENST00000548748 human ensembl 70_37 -1 known rna NULL NULL 0.070 - - - no_errors CTD-2311B13.5 Clone_based_vega_gene ENSG00000258603 0 genome.wustl.edu 37 14 74083729 74083729 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 74083729 74083729 G C SNP ENSG00000258603 ENST00000555011 human ensembl 70_37 -1 known rna NULL NULL 0.998 - - - no_errors RP3-414A15.10 Clone_based_vega_gene ENSG00000259480 0 genome.wustl.edu 37 15 23131872 23131872 + RNA SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 23131872 23131872 C A SNP ENSG00000259480 ENST00000560053 human ensembl 70_37 -1 known rna NULL NULL 0.999 - - - no_errors RP11-26F2.1 Clone_based_vega_gene ENSG00000261586 0 genome.wustl.edu 37 12 52216041 52216041 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 52216041 52216041 C T SNP ENSG00000261586 ENST00000562343 human ensembl 70_37 +1 putative rna NULL NULL 0.998 - - - no_errors RP11-923I11.6 Clone_based_vega_gene ENSG00000262580 0 genome.wustl.edu 37 17 78178264 78178264 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 78178264 78178264 C T SNP ENSG00000262580 ENST00000570309 human ensembl 70_37 -1 known rna NULL NULL 0.118 - - - no_errors RP11-334C17.5 Clone_based_vega_gene ENSG00000262712 0 genome.wustl.edu 37 16 4387793 4387793 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 4387793 4387793 G C SNP ENSG00000262712 ENST00000574705 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-295D4.1 Clone_based_vega_gene ENSG00000262791 0 genome.wustl.edu 37 17 1641656 1641656 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 1641656 1641656 G C SNP ENSG00000262791 ENST00000576540 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-961A15.1 Clone_based_vega_gene ENSG00000262791 0 genome.wustl.edu 37 17 1641719 1641719 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 1641719 1641719 G C SNP ENSG00000262791 ENST00000576540 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors RP11-961A15.1 Clone_based_vega_gene ENSG00000262791 0 genome.wustl.edu 37 17 1641739 1641739 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 1641739 1641739 C G SNP ENSG00000262791 ENST00000576540 human ensembl 70_37 -1 known rna NULL NULL 0.991 - - - no_errors RP11-961A15.1 Clone_based_vega_gene ENSG00000262791 0 genome.wustl.edu 37 17 1641793 1641793 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 1641793 1641793 G C SNP ENSG00000262791 ENST00000576540 human ensembl 70_37 -1 known rna NULL NULL 0.109 - - - no_errors RP11-961A15.1 Clone_based_vega_gene ENSG00000264771 0 genome.wustl.edu 37 15 99797792 99797793 + RNA INS - - T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 99797792 99797793 - T INS ENSG00000264771 ENST00000581052 human ensembl 70_37 +1 novel rna NULL NULL 0.008:0.008 - - - no_errors AC022819.1 Clone_based_ensembl_gene ENSG00000264771 0 genome.wustl.edu 37 15 99797794 99797794 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 99797794 99797794 C T SNP ENSG00000264771 ENST00000581052 human ensembl 70_37 +1 novel rna NULL NULL 0.007 - - - no_errors AC022819.1 Clone_based_ensembl_gene ENSG00000267243 0 genome.wustl.edu 37 19 29213617 29213617 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 29213617 29213617 C G SNP ENSG00000267243 ENST00000590072 human ensembl 70_37 -1 known rna NULL NULL 0.028 - - - no_errors AC005307.3 Clone_based_vega_gene ENSG00000268032 0 genome.wustl.edu 37 19 18141638 18141638 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 18141638 18141638 G A SNP ENSG00000268032 ENST00000594957 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CTB-52I2.4 Clone_based_vega_gene EP300 2033 genome.wustl.edu 37 22 41489064 41489064 + Nonsense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 41489064 41489064 C G SNP EP300 ENST00000263253 human ensembl 70_37 +1 known nonsense c.56 p.S19* 1.000 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC EP300 2033 genome.wustl.edu 37 22 41521980 41521980 + Nonsense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 41521980 41521980 C G SNP EP300 ENST00000263253 human ensembl 70_37 +1 known nonsense c.842 p.S281* 1.000 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC EPC2 26122 genome.wustl.edu 37 2 149447933 149447933 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 149447933 149447933 C G SNP EPC2 ENST00000258484 human ensembl 70_37 +1 known missense c.304 p.H102D 1.000 pfam_Enhancer_polycomb-like_N pfam_Enhancer_polycomb_C,pfam_Enhancer_polycomb-like_N - no_errors EPC2 HGNC EPDR1 54749 genome.wustl.edu 37 7 37960781 37960781 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 37960781 37960781 C T SNP EPDR1 ENST00000559325 human ensembl 70_37 +1 known silent c.600 p.D200 1.000 smart_Ependymin pfam_Ependymin,smart_Ependymin,prints_Ependymin - no_errors EPDR1 HGNC EPN3 55040 genome.wustl.edu 37 17 48618394 48618394 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 48618394 48618394 G C SNP EPN3 ENST00000537145 human ensembl 70_37 +1 known missense c.1304 p.G435A 0.934 NULL pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN3 HGNC EPPK1 83481 genome.wustl.edu 37 8 144941887 144941887 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 144941887 144941887 G A SNP EPPK1 ENST00000525985 human ensembl 70_37 -1 known silent c.5535 p.I1845 0.080 NULL pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC EPPK1 83481 genome.wustl.edu 37 8 144942235 144942235 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 144942235 144942235 G A SNP EPPK1 ENST00000525985 human ensembl 70_37 -1 known silent c.5187 p.F1729 0.989 smart_Plectin_repeat pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC EPPK1 83481 genome.wustl.edu 37 8 144942955 144942955 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 144942955 144942955 G A SNP EPPK1 ENST00000525985 human ensembl 70_37 -1 known silent c.4467 p.L1489 0.000 NULL pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC EPPK1 83481 genome.wustl.edu 37 8 144943526 144943526 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 144943526 144943526 G A SNP EPPK1 ENST00000525985 human ensembl 70_37 -1 known missense c.3896 p.S1299L 0.147 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ERBB2 2064 genome.wustl.edu 37 17 37871593 37871593 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 37871593 37871593 G C SNP ERBB2 ENST00000269571 human ensembl 70_37 +1 known missense c.1203 p.E401D 0.984 pfam_EGF_rcpt_L,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ERBB2 HGNC ERBB2IP 55914 genome.wustl.edu 37 5 65370955 65370955 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 65370955 65370955 G C SNP ERBB2IP ENST00000284037 human ensembl 70_37 +1 known missense c.3860 p.R1287T 1.000 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors ERBB2IP HGNC ERI2 112479 genome.wustl.edu 37 16 20811296 20811296 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 20811296 20811296 G A SNP ERI2 ENST00000357967 human ensembl 70_37 -1 known missense c.626 p.S209L 1.000 pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease pfam_Exonuclease_RNaseT/DNA_pol3,pfam_Znf_GRF,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors ERI2 HGNC ERP29 10961 genome.wustl.edu 37 12 112460219 112460219 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 112460219 112460219 G C SNP ERP29 ENST00000261735 human ensembl 70_37 +1 known missense c.549 p.Q183H 0.264 pfam_ER_p29_C,superfamily_ER_p29_C,pirsf_ER_p29 pfam_ERp29_N,pfam_ER_p29_C,superfamily_ER_p29_C,superfamily_Thioredoxin-like_fold,pirsf_ER_p29 - no_errors ERP29 HGNC ERVV-1 147664 genome.wustl.edu 37 19 53518516 53518516 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 53518516 53518516 C T SNP ERVV-1 ENST00000602168 human ensembl 70_37 +1 known silent c.1173 p.L391 0.333 pfam_TLV/ENV_coat_polyprotein pfam_TLV/ENV_coat_polyprotein - no_errors ERVV-1 HGNC ESPL1 9700 genome.wustl.edu 37 12 53680114 53680114 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 53680114 53680114 C T SNP ESPL1 ENST00000257934 human ensembl 70_37 +1 known silent c.3594 p.L1198 0.019 NULL pfam_Peptidase_C50 - no_errors ESPL1 HGNC ETHE1 23474 genome.wustl.edu 37 19 44012026 44012026 + Nonstop_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 44012026 44012026 C G SNP ETHE1 ENST00000600651 human ensembl 70_37 -1 putative nonstop c.782 p.*261S 0.091 NULL pfam_Beta-lactamas-like,smart_Beta-lactamas-like - no_errors ETHE1 HGNC ETNK2 55224 genome.wustl.edu 37 1 204110443 204110443 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 204110443 204110443 C G SNP ETNK2 ENST00000367201 human ensembl 70_37 -1 known missense c.784 p.G262R 1.000 pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom - no_errors ETNK2 HGNC EVC 2121 genome.wustl.edu 37 4 5758045 5758045 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 5758045 5758045 G C SNP EVC ENST00000264956 human ensembl 70_37 +1 known missense c.1519 p.E507Q 0.278 NULL NULL - no_errors EVC HGNC EVI5L 115704 genome.wustl.edu 37 19 7927119 7927119 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 7927119 7927119 G C SNP EVI5L ENST00000538904 human ensembl 70_37 +1 known missense c.1756 p.E586Q 0.998 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors EVI5L HGNC EXOC3L4 91828 genome.wustl.edu 37 14 103568655 103568655 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 103568655 103568655 G A SNP EXOC3L4 ENST00000380069 human ensembl 70_37 +1 known missense c.595 p.E199K 1.000 pfam_Sec6 pfam_Sec6 - no_errors EXOC3L4 HGNC EYA2 2139 genome.wustl.edu 37 20 45607194 45607194 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 45607194 45607194 G A SNP EYA2 ENST00000497428 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors EYA2 HGNC EYS 346007 genome.wustl.edu 37 6 66205254 66205254 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 66205254 66205254 G A SNP EYS ENST00000370616 human ensembl 70_37 -1 known missense c.50 p.S17F 0.000 NULL pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC F12 2161 genome.wustl.edu 37 5 176830339 176830339 + Nonsense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 176830339 176830339 G A SNP F12 ENST00000253496 human ensembl 70_37 -1 known nonsense c.1447 p.Q483* 0.410 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Coagulation_fac_XIIa/HGFA,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_Kringle,pfam_FN_type2_col-bd,pfam_EG-like_dom,pfam_Fibronectin_type1,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1_S6,pirsf_Coagulation_fac_XIIa/HGFA,prints_Peptidase_S1A,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1_S6 - no_errors F12 HGNC F12 2161 genome.wustl.edu 37 5 176830384 176830384 + Nonsense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 176830384 176830384 G A SNP F12 ENST00000253496 human ensembl 70_37 -1 known nonsense c.1402 p.Q468* 1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Coagulation_fac_XIIa/HGFA,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_Kringle,pfam_FN_type2_col-bd,pfam_EG-like_dom,pfam_Fibronectin_type1,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1_S6,pirsf_Coagulation_fac_XIIa/HGFA,prints_Peptidase_S1A,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1_S6 - no_errors F12 HGNC F8 2157 genome.wustl.edu 37 X 154221309 154221309 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 154221309 154221309 G C SNP F8 ENST00000360256 human ensembl 70_37 -1 known missense c.503 p.S168C 0.994 pfam_Cu-oxidase_3,superfamily_Cupredoxin pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC FAM105A 54491 genome.wustl.edu 37 5 14601467 14601467 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 14601467 14601467 C T SNP FAM105A ENST00000274217 human ensembl 70_37 +1 known silent c.264 p.L88 1.000 NULL prints_FAM105,prints_FAM105A - no_errors FAM105A HGNC FAM107A 11170 genome.wustl.edu 37 3 58552947 58552947 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 58552947 58552947 C G SNP FAM107A ENST00000360997 human ensembl 70_37 -1 known missense c.315 p.Q105H 1.000 pfam_DUF1151 pfam_DUF1151 - no_errors FAM107A HGNC FAM107B 83641 genome.wustl.edu 37 10 14709640 14709640 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 14709640 14709640 C T SNP FAM107B ENST00000181796 human ensembl 70_37 -1 known missense c.462 p.M154I 0.013 NULL pfam_DUF1151 - no_errors FAM107B HGNC FAM126A 84668 genome.wustl.edu 37 7 22985680 22985680 + Nonsense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 22985680 22985680 G C SNP FAM126A ENST00000432176 human ensembl 70_37 -1 known nonsense c.1094 p.S365* 1.000 NULL pfam_Hyccin - no_errors FAM126A HGNC FAM13C 220965 genome.wustl.edu 37 10 61043192 61043192 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 61043192 61043192 C G SNP FAM13C ENST00000373868 human ensembl 70_37 -1 known missense c.523 p.V175L 1.000 NULL NULL - no_errors FAM13C HGNC FAM149B1 317662 genome.wustl.edu 37 10 74994761 74994761 + RNA SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 74994761 74994761 G T SNP FAM149B1 ENST00000468462 human ensembl 70_37 +1 known rna NULL NULL 0.520 - - - no_errors FAM149B1 HGNC FAM162B 221303 genome.wustl.edu 37 6 117086414 117086414 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 117086414 117086414 C G SNP FAM162B ENST00000368557 human ensembl 70_37 -1 known missense c.177 p.E59D 0.007 pfam_DUF1075 pfam_DUF1075 - no_errors FAM162B HGNC FAM171A2 284069 genome.wustl.edu 37 17 42432383 42432383 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 42432383 42432383 G A SNP FAM171A2 ENST00000293443 human ensembl 70_37 -1 known missense c.1199 p.S400L 0.968 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171,superfamily_Collagen-bd_Cna_B-typ_dom - no_errors FAM171A2 HGNC FAM193A 8603 genome.wustl.edu 37 4 2691423 2691423 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 2691423 2691423 C T SNP FAM193A ENST00000324666 human ensembl 70_37 +1 known missense c.1649 p.T550I 1.000 NULL NULL - no_errors FAM193A HGNC FAM193A 8603 genome.wustl.edu 37 4 2701666 2701666 + Missense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 2701666 2701666 C A SNP FAM193A ENST00000324666 human ensembl 70_37 +1 known missense c.2894 p.S965Y 0.987 NULL NULL - no_errors FAM193A HGNC FAM217A 222826 genome.wustl.edu 37 6 4049817 4049817 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 4049817 4049817 C G SNP FAM217A ENST00000463904 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors FAM217A HGNC FAM21A 387680 genome.wustl.edu 37 10 51889698 51889698 + Nonsense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 51889698 51889698 G T SNP FAM21A ENST00000282633 human ensembl 70_37 +1 known nonsense c.3607 p.E1203* 1.000 NULL NULL - no_errors FAM21A HGNC FAM21C 253725 genome.wustl.edu 37 10 46222947 46222947 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 46222947 46222947 G A SNP FAM21C ENST00000374362 human ensembl 70_37 +1 known missense c.86 p.R29H 1.000 NULL NULL - no_errors FAM21C HGNC FAM222A 84915 genome.wustl.edu 37 12 110206094 110206094 + Silent SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 110206094 110206094 G T SNP FAM222A ENST00000358906 human ensembl 70_37 +1 known silent c.360 p.G120 0.005 NULL NULL - no_errors FAM222A HGNC FAM222B 55731 genome.wustl.edu 37 17 27086726 27086726 + Nonsense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 27086726 27086726 G C SNP FAM222B ENST00000341217 human ensembl 70_37 -1 known nonsense c.251 p.S84* 1.000 NULL NULL - no_errors FAM222B HGNC NUTM2G 441457 genome.wustl.edu 37 9 99700821 99700821 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 99700821 99700821 C T SNP FAM22G ENST00000372322 human ensembl 70_37 +1 known missense c.1616 p.T539M 0.000 NULL NULL - no_errors FAM22G HGNC FAM49B 51571 genome.wustl.edu 37 8 130864412 130864412 + Nonsense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 130864412 130864412 G C SNP FAM49B ENST00000401979 human ensembl 70_37 -1 known nonsense c.629 p.S210* 0.996 pfam_DUF1394 pfam_DUF1394 - no_errors FAM49B HGNC GAREML 150946 genome.wustl.edu 37 2 26410287 26410287 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 26410287 26410287 G A SNP FAM59B ENST00000401533 human ensembl 70_37 +1 known missense c.1786 p.A596T 0.002 NULL superfamily_SAM/pointed - no_errors FAM59B HGNC GAREML 150946 genome.wustl.edu 37 2 26410897 26410897 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 26410897 26410897 C T SNP FAM59B ENST00000401533 human ensembl 70_37 +1 known missense c.2396 p.S799F 0.988 NULL superfamily_SAM/pointed - no_errors FAM59B HGNC FAM63B 54629 genome.wustl.edu 37 15 59064305 59064305 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 59064305 59064305 C T SNP FAM63B ENST00000559228 human ensembl 70_37 +1 known silent c.711 p.F237 1.000 NULL pfam_DUF544 - no_errors FAM63B HGNC FAM65B 9750 genome.wustl.edu 37 6 24873921 24873921 + Nonsense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 24873921 24873921 G A SNP FAM65B ENST00000259698 human ensembl 70_37 -1 known nonsense c.208 p.Q70* 1.000 NULL superfamily_ARM-type_fold - no_errors FAM65B HGNC FAM91A1 157769 genome.wustl.edu 37 8 124797868 124797868 + Splice_Site SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 124797868 124797868 G A SNP FAM91A1 ENST00000334705 human ensembl 70_37 +1 known splice_site c.850-1 e11-1 1.000 - - - no_errors FAM91A1 HGNC FAM98A 25940 genome.wustl.edu 37 2 33810301 33810301 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 33810301 33810301 C T SNP FAM98A ENST00000238823 human ensembl 70_37 -1 known missense c.1099 p.D367N 1.000 NULL pfam_Uncharacterised_FAM98 - no_errors FAM98A HGNC FANCA 2175 genome.wustl.edu 37 16 89806408 89806408 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 89806408 89806408 C G SNP FANCA ENST00000389301 human ensembl 70_37 -1 known missense c.3928 p.E1310Q 0.354 pfam_Fanconia,prints_Fanconia pfam_Fanconia,prints_Fanconia - no_errors FANCA HGNC FANCD2 2177 genome.wustl.edu 37 3 10074515 10074515 + Splice_Site SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 10074515 10074515 G C SNP FANCD2 ENST00000287647 human ensembl 70_37 +1 known splice_site c.65-1 e2-1 0.361 - - - no_errors FANCD2 HGNC FAS 355 genome.wustl.edu 37 10 90771815 90771815 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 90771815 90771815 C T SNP FAS ENST00000355740 human ensembl 70_37 +1 known missense c.628 p.H210Y 0.000 NULL pfam_Death,pfam_TNFR/NGFR_Cys_rich_reg,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg,prints_Fas_rcpt - no_errors FAS HGNC FAT2 2196 genome.wustl.edu 37 5 150931047 150931047 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 150931047 150931047 G A SNP FAT2 ENST00000261800 human ensembl 70_37 -1 known missense c.4277 p.S1426F 0.002 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC FAT3 120114 genome.wustl.edu 37 11 92615956 92615956 + Missense_Mutation SNP T T A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 92615956 92615956 T A SNP FAT3 ENST00000298047 human ensembl 70_37 +1 known missense c.12334 p.S4112T 0.466 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC FBN2 2201 genome.wustl.edu 37 5 127704923 127704923 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 127704923 127704923 C G SNP FBN2 ENST00000262464 human ensembl 70_37 -1 known missense c.2200 p.D734H 1.000 pfam_TB_dom,superfamily_TB_dom,pirsf_FBN pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN2 HGNC FBN3 84467 genome.wustl.edu 37 19 8188852 8188852 + Silent SNP A A G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 8188852 8188852 A G SNP FBN3 ENST00000270509 human ensembl 70_37 -1 known silent c.2772 p.D924 0.796 superfamily_TB_dom,pirsf_FBN pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN3 HGNC FBXO38 81545 genome.wustl.edu 37 5 147807033 147807033 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 147807033 147807033 G A SNP FBXO38 ENST00000340253 human ensembl 70_37 +1 known missense c.2176 p.D726N 1.000 NULL superfamily_F-box_dom_cyclin-like - no_errors FBXO38 HGNC FBXO46 23403 genome.wustl.edu 37 19 46216318 46216318 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 46216318 46216318 C G SNP FBXO46 ENST00000317683 human ensembl 70_37 -1 known missense c.436 p.D146H 0.530 NULL superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO46 HGNC FCGBP 8857 genome.wustl.edu 37 19 40368436 40368436 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 40368436 40368436 G A SNP FCGBP ENST00000221347 human ensembl 70_37 -1 known silent c.12912 p.F4304 0.990 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC FCGR1C 100132417 genome.wustl.edu 37 1 149369355 149369355 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 149369355 149369355 G C SNP FCGR1C ENST00000453173 human ensembl 70_37 +1 known rna NULL NULL 0.065 - - - no_errors FCGR1C HGNC FCHSD1 89848 genome.wustl.edu 37 5 141024446 141024446 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 141024446 141024446 C T SNP FCHSD1 ENST00000435817 human ensembl 70_37 -1 known missense c.1504 p.D502N 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_FCH,superfamily_SH3_domain,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain - no_errors FCHSD1 HGNC FGA 2243 genome.wustl.edu 37 4 155505365 155505365 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 155505365 155505365 C G SNP FGA ENST00000302053 human ensembl 70_37 -1 known missense c.2512 p.E838Q 1.000 pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C pfam_Fibrinogen_a/b/g_C,pfam_Fibrinogen_a/b/g_coil_dom,pfam_Fibrinogen_aC,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors FGA HGNC FGD2 221472 genome.wustl.edu 37 6 36993679 36993679 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 36993679 36993679 G C SNP FGD2 ENST00000274963 human ensembl 70_37 +1 known missense c.1570 p.E524Q 0.979 NULL pfam_DH-domain,pfam_Znf_FYVE,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD2 HGNC FGD3 89846 genome.wustl.edu 37 9 95776211 95776211 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 95776211 95776211 G C SNP FGD3 ENST00000337352 human ensembl 70_37 +1 known silent c.1113 p.L371 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD3 HGNC FGF12 2257 genome.wustl.edu 37 3 191888293 191888293 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 191888293 191888293 C T SNP FGF12 ENST00000454309 human ensembl 70_37 -1 known silent c.567 p.V189 1.000 pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF,prints_GF_heparin-bd - no_errors FGF12 HGNC FGFR3 2261 genome.wustl.edu 37 4 1803224 1803224 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 1803224 1803224 C T SNP FGFR3 ENST00000340107 human ensembl 70_37 +1 known silent c.576 p.G192 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Ig-like pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FGFR3 HGNC FHOD1 29109 genome.wustl.edu 37 16 67263777 67263777 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 67263777 67263777 G C SNP FHOD1 ENST00000258201 human ensembl 70_37 -1 known missense c.3331 p.L1111V 0.955 NULL pfam_FH2_actin-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors FHOD1 HGNC FIG4 9896 genome.wustl.edu 37 6 110087939 110087939 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 110087939 110087939 G C SNP FIG4 ENST00000230124 human ensembl 70_37 +1 known missense c.1591 p.E531Q 1.000 pfscan_Syja_N pfam_Syja_N,pfscan_Syja_N - no_errors FIG4 HGNC FIGF 2277 genome.wustl.edu 37 X 15376224 15376224 + Missense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 15376224 15376224 G T SNP FIGF ENST00000297904 human ensembl 70_37 -1 known missense c.393 p.F131L 1.000 pfam_PD_growth_factor,smart_PD_growth_factor,pfscan_PD_growth_factor pfam_PD_growth_factor,smart_PD_growth_factor,pfscan_PD_growth_factor - no_errors FIGF HGNC FKBP15 23307 genome.wustl.edu 37 9 115947059 115947059 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 115947059 115947059 G C SNP FKBP15 ENST00000238256 human ensembl 70_37 -1 known silent c.1524 p.L508 1.000 NULL pfam_PPIase_FKBP_dom,superfamily_Regulat_G_prot_signal_superfam,pfscan_PPIase_FKBP_dom - no_errors FKBP15 HGNC FLG 2312 genome.wustl.edu 37 1 152284387 152284387 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 152284387 152284387 C T SNP FLG ENST00000368799 human ensembl 70_37 -1 known missense c.2975 p.R992K 0.001 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC LINC00905 148231 genome.wustl.edu 37 19 16146459 16146459 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 16146459 16146459 G A SNP FLJ25328 ENST00000397365 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors AC114273.1 Clone_based_vega_gene FLNA 2316 genome.wustl.edu 37 X 153581031 153581031 + Missense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 153581031 153581031 G T SNP FLNA ENST00000369850 human ensembl 70_37 -1 known missense c.6392 p.S2131Y 1.000 superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC FLNA 2316 genome.wustl.edu 37 X 153582057 153582057 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 153582057 153582057 C G SNP FLNA ENST00000369850 human ensembl 70_37 -1 known missense c.5725 p.E1909Q 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC FLNB 2317 genome.wustl.edu 37 3 58109341 58109341 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 58109341 58109341 C T SNP FLNB ENST00000295956 human ensembl 70_37 +1 known silent c.3648 p.F1216 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNB HGNC FLT1 2321 genome.wustl.edu 37 13 28895716 28895716 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 28895716 28895716 G A SNP FLT1 ENST00000282397 human ensembl 70_37 -1 known missense c.3058 p.H1020Y 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR1_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors FLT1 HGNC FMNL1 752 genome.wustl.edu 37 17 43320550 43320550 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 43320550 43320550 C T SNP FMNL1 ENST00000328118 human ensembl 70_37 +1 known silent c.2076 p.L692 0.000 pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors FMNL1 HGNC FMNL3 91010 genome.wustl.edu 37 12 50047597 50047597 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 50047597 50047597 C T SNP FMNL3 ENST00000293590 human ensembl 70_37 -1 known missense c.1132 p.V378M 1.000 pfam_Drf_FH3,superfamily_ARM-type_fold pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors FMNL3 HGNC FMO2 2327 genome.wustl.edu 37 1 171165874 171165874 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 171165874 171165874 G A SNP FMO2 ENST00000209929 human ensembl 70_37 +1 known silent c.408 p.Q136 0.000 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase,prints_Flavin_mOase_2,prints_Flavin_mOase_1,prints_Flavin_mOase_5 - no_errors FMO2 HGNC FMR1 2332 genome.wustl.edu 37 X 147011666 147011666 + Nonsense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 147011666 147011666 C G SNP FMR1 ENST00000370475 human ensembl 70_37 +1 known nonsense c.533 p.S178* 0.018 NULL pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FMR1 HGNC FN3K 64122 genome.wustl.edu 37 17 80706805 80706805 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 80706805 80706805 G A SNP FN3K ENST00000300784 human ensembl 70_37 +1 known silent c.543 p.E181 1.000 pfam_Fructo-/Ketosamine-3-kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,pirsf_Fructo-/Ketosamine-3-kinase pfam_Fructo-/Ketosamine-3-kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,pirsf_Fructo-/Ketosamine-3-kinase - no_errors FN3K HGNC FNDC3B 64778 genome.wustl.edu 37 3 172016570 172016570 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 172016570 172016570 C T SNP FNDC3B ENST00000336824 human ensembl 70_37 +1 known missense c.1054 p.H352Y 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC3B HGNC FNIP2 57600 genome.wustl.edu 37 4 159789475 159789475 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 159789475 159789475 G C SNP FNIP2 ENST00000379346 human ensembl 70_37 +1 known missense c.1756 p.E586Q 1.000 NULL NULL - no_errors FNIP2 HGNC FOCAD 54914 genome.wustl.edu 37 9 20770100 20770100 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 20770100 20770100 C T SNP FOCAD ENST00000338382 human ensembl 70_37 +1 known missense c.769 p.H257Y 0.977 NULL pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold - no_errors FOCAD HGNC FOXF1 2294 genome.wustl.edu 37 16 86546673 86546673 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 86546673 86546673 C G SNP FOXF1 ENST00000262426 human ensembl 70_37 +1 known missense c.1122 p.I374M 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXF1 HGNC FOXI3 344167 genome.wustl.edu 37 2 88747930 88747930 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 88747930 88747930 G C SNP FOXI3 ENST00000398142 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors FOXI3 HGNC FOXP1 27086 genome.wustl.edu 37 3 71037200 71037200 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 71037200 71037200 G A SNP FOXP1 ENST00000318789 human ensembl 70_37 -1 known missense c.1091 p.A364V 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP1 HGNC FPGS 2356 genome.wustl.edu 37 9 130575577 130575577 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 130575577 130575577 C G SNP FPGS ENST00000373247 human ensembl 70_37 +1 known silent c.1458 p.L486 0.755 tigrfam_Folylpolyglutamate_synth superfamily_Mur_ligase_cen,superfamily_Mur_ligase_C,tigrfam_Folylpolyglutamate_synth - no_errors FPGS HGNC FREM3 166752 genome.wustl.edu 37 4 144619550 144619550 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 144619550 144619550 C T SNP FREM3 ENST00000329798 human ensembl 70_37 -1 putative missense c.2279 p.G760E 1.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM3 HGNC FSTL3 10272 genome.wustl.edu 37 19 681696 681696 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 681696 681696 G C SNP FSTL3 ENST00000166139 human ensembl 70_37 +1 known missense c.780 p.E260D 1.000 NULL pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,pfam_Follistatin/Osteonectin_EGF,superfamily_TB_dom,smart_Fol_N,smart_Prot_inh_Kazal - no_errors FSTL3 HGNC FTCD 10841 genome.wustl.edu 37 21 47571901 47571901 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 21 47571901 47571901 G C SNP FTCD ENST00000498355 human ensembl 70_37 -1 known rna NULL NULL 0.021 - - - no_errors FTCD HGNC FYCO1 79443 genome.wustl.edu 37 3 46008585 46008585 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 46008585 46008585 G C SNP FYCO1 ENST00000535325 human ensembl 70_37 -1 known silent c.2241 p.L747 0.002 NULL pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel - no_errors FYCO1 HGNC FYN 2534 genome.wustl.edu 37 6 111983016 111983016 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 111983016 111983016 C T SNP FYN ENST00000354650 human ensembl 70_37 -1 known missense c.1540 p.E514K 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors FYN HGNC FZD4 8322 genome.wustl.edu 37 11 86662235 86662235 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 86662235 86662235 C G SNP FZD4 ENST00000531380 human ensembl 70_37 -1 known missense c.1563 p.K521N 0.951 NULL pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD4 HGNC GABRA2 2555 genome.wustl.edu 37 4 46263983 46263983 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 46263983 46263983 C G SNP GABRA2 ENST00000540012 human ensembl 70_37 -1 known missense c.854 p.R285T 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa2_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRA2 HGNC GABRG3 2567 genome.wustl.edu 37 15 27572024 27572024 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 27572024 27572024 G C SNP GABRG3 ENST00000333743 human ensembl 70_37 +1 known missense c.339 p.M113I 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg3_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG3 HGNC GABRR2 2570 genome.wustl.edu 37 6 89974134 89974134 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 89974134 89974134 C T SNP GABRR2 ENST00000402938 human ensembl 70_37 -1 known silent c.1158 p.E386 0.006 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAa_rho2_rcpt,prints_GABAAa_rho_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRR2 HGNC GALNT7 51809 genome.wustl.edu 37 4 174242730 174242730 + Splice_Site SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 174242730 174242730 G A SNP GALNT7 ENST00000265000 human ensembl 70_37 +1 known splice_site c.1837-1 e12-1 1.000 - - - no_errors GALNT7 HGNC GAST 2520 genome.wustl.edu 37 17 39872094 39872094 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 39872094 39872094 C T SNP GAST ENST00000329402 human ensembl 70_37 +1 known silent c.276 p.F92 0.474 pfam_Gastrin,smart_Gastrin pfam_Gastrin,smart_Gastrin - no_errors GAST HGNC GATS 352954 genome.wustl.edu 37 7 99821295 99821295 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 99821295 99821295 G C SNP GATS ENST00000436886 human ensembl 70_37 -1 known silent c.438 p.V146 1.000 NULL NULL - no_errors GATS Uniprot_genename GBF1 8729 genome.wustl.edu 37 10 104019846 104019846 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 104019846 104019846 C G SNP GBF1 ENST00000369983 human ensembl 70_37 +1 known missense c.136 p.L46V 0.945 superfamily_ARM-type_fold pfam_Sec7,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors GBF1 HGNC GBF1 8729 genome.wustl.edu 37 10 104122367 104122367 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 104122367 104122367 G C SNP GBF1 ENST00000369983 human ensembl 70_37 +1 known missense c.1819 p.E607Q 1.000 NULL pfam_Sec7,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors GBF1 HGNC GBP3 2635 genome.wustl.edu 37 1 89476775 89476775 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 89476775 89476775 C T SNP GBP3 ENST00000370481 human ensembl 70_37 -1 known missense c.1174 p.D392N 0.004 pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C - no_errors GBP3 HGNC GCKR 2646 genome.wustl.edu 37 2 27746301 27746301 + Nonsense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 27746301 27746301 C T SNP GCKR ENST00000264717 human ensembl 70_37 +1 known nonsense c.1873 p.Q625* 0.005 NULL NULL - no_errors GCKR HGNC GCNT2 2651 genome.wustl.edu 37 6 10557320 10557320 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 10557320 10557320 C T SNP GCNT2 ENST00000316170 human ensembl 70_37 +1 known missense c.664 p.H222Y 0.999 pfam_Glyco_trans_14 pfam_Glyco_trans_14 - no_errors GCNT2 HGNC GDF5 8200 genome.wustl.edu 37 20 34021779 34021779 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 34021779 34021779 G A SNP GDF5 ENST00000374369 human ensembl 70_37 -1 known silent c.1434 p.F478 1.000 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF5 HGNC GEM 2669 genome.wustl.edu 37 8 95272461 95272461 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 95272461 95272461 G C SNP GEM ENST00000297596 human ensembl 70_37 -1 known missense c.271 p.L91V 0.999 pfam_Small_GTPase,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,pirsf_Small_GTPase_GEM/REM/Rad,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,pirsf_Small_GTPase_GEM/REM/Rad,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors GEM HGNC GEMIN5 25929 genome.wustl.edu 37 5 154280963 154280963 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 154280963 154280963 G A SNP GEMIN5 ENST00000285873 human ensembl 70_37 -1 known missense c.2950 p.H984Y 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors GEMIN5 HGNC GFRA1 2674 genome.wustl.edu 37 10 117824046 117824046 + Frame_Shift_Del DEL C C - TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 117824046 117824046 C - DEL GFRA1 ENST00000439649 human ensembl 70_37 -1 known frame_shift_del c.1261 p.E421fs 0.987 pirsf_Glial_neurotroph_fac_rcpt_a1/2 pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt,prints_GDNF_rcpt_A1 - no_errors GFRA1 HGNC GGA2 23062 genome.wustl.edu 37 16 23478641 23478641 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 23478641 23478641 G A SNP GGA2 ENST00000566685 human ensembl 70_37 -1 putative rna NULL NULL 0.001 - - - no_errors GGA2 HGNC GGN 199720 genome.wustl.edu 37 19 38876431 38876431 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 38876431 38876431 C T SNP GGN ENST00000334928 human ensembl 70_37 -1 known missense c.1471 p.D491N 0.002 NULL NULL - no_errors GGN HGNC GGNBP2 79893 genome.wustl.edu 37 17 34923557 34923557 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 34923557 34923557 G C SNP GGNBP2 ENST00000304718 human ensembl 70_37 +1 known missense c.583 p.V195L 1.000 NULL NULL - no_errors GGNBP2 HGNC GHR 2690 genome.wustl.edu 37 5 42718888 42718888 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 42718888 42718888 G C SNP GHR ENST00000230882 human ensembl 70_37 +1 known missense c.1279 p.D427H 1.000 NULL pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors GHR HGNC GHSR 2693 genome.wustl.edu 37 3 172165378 172165378 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 172165378 172165378 G C SNP GHSR ENST00000427970 human ensembl 70_37 -1 known missense c.826 p.L276V 0.001 pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GHS1_rcpt,prints_GPCR_Rhodpsn - no_errors GHSR HGNC GIPC1 10755 genome.wustl.edu 37 19 14590226 14590226 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 14590226 14590226 G C SNP GIPC1 ENST00000345425 human ensembl 70_37 -1 known missense c.766 p.L256V 0.999 pirsf_UCP038083_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_UCP038083_PDZ,pfscan_PDZ - no_errors GIPC1 HGNC GJA8 2703 genome.wustl.edu 37 1 147381160 147381160 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 147381160 147381160 G A SNP GJA8 ENST00000240986 human ensembl 70_37 +1 known missense c.1078 p.E360K 0.078 NULL pfam_Connexin_N,pfam_Connexin50,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin50 - no_errors GJA8 HGNC GLI1 2735 genome.wustl.edu 37 12 57861878 57861878 + Frame_Shift_Del DEL G G - TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 57861878 57861878 G - DEL GLI1 ENST00000228682 human ensembl 70_37 +1 known frame_shift_del c.1179 p.T394fs 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI1 HGNC GLOD5 392465 genome.wustl.edu 37 X 48629375 48629375 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 48629375 48629375 G C SNP GLOD5 ENST00000303227 human ensembl 70_37 +1 known missense c.234 p.Q78H 0.999 pfam_Glyas_Fos-R_dOase_dom pfam_Glyas_Fos-R_dOase_dom - no_errors GLOD5 HGNC GNE 10020 genome.wustl.edu 37 9 36249292 36249292 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 36249292 36249292 C G SNP GNE ENST00000396594 human ensembl 70_37 -1 known missense c.154 p.D52H 1.000 tigrfam_UDP-GlcNAc_Epase pfam_UDP_GlcNAc_Epimerase_2,pfam_ROK,prints_Hexokinase,tigrfam_UDP-GlcNAc_Epase - no_errors GNE HGNC GNPTAB 79158 genome.wustl.edu 37 12 102158230 102158230 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 102158230 102158230 G A SNP GNPTAB ENST00000299314 human ensembl 70_37 -1 known missense c.2465 p.T822I 0.008 NULL pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_HAND_2,pfscan_Notch_dom - no_errors GNPTAB HGNC GNPTAB 79158 genome.wustl.edu 37 12 102161817 102161817 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 102161817 102161817 G C SNP GNPTAB ENST00000299314 human ensembl 70_37 -1 known missense c.1406 p.S469C 0.944 pfam_Notch_dom,superfamily_Notch_dom,smart_Notch_dom,pfscan_Notch_dom pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_HAND_2,pfscan_Notch_dom - no_errors GNPTAB HGNC GOLGA1 2800 genome.wustl.edu 37 9 127700957 127700957 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 127700957 127700957 C G SNP GOLGA1 ENST00000373555 human ensembl 70_37 -1 known missense c.34 p.E12Q 1.000 NULL pfam_GRIP,superfamily_Prefoldin,superfamily_GRIP,smart_GRIP,pfscan_GRIP - no_errors GOLGA1 HGNC GOLGA5 9950 genome.wustl.edu 37 14 93282695 93282695 + Nonsense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 93282695 93282695 G T SNP GOLGA5 ENST00000163416 human ensembl 70_37 +1 known nonsense c.1420 p.E474* 1.000 pfam_Golgin_subfamily_A_member_5,superfamily_Prefoldin pfam_Golgin_subfamily_A_member_5,superfamily_Prefoldin - no_errors GOLGA5 HGNC GOLGA6L2 283685 genome.wustl.edu 37 15 23685325 23685326 + In_Frame_Ins INS - - CTG TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 23685325 23685326 - CTG INS GOLGA6L2 ENST00000567107 human ensembl 70_37 -1 putative in_frame_ins c.2297_2296 p.766in_frame_insA 0.016:0.016 NULL NULL - no_errors GOLGA6L2 HGNC GOLGA6L6 727832 genome.wustl.edu 37 15 20740076 20740076 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 20740076 20740076 C G SNP GOLGA6L6 ENST00000427390 human ensembl 70_37 -1 known missense c.1674 p.K558N 0.130 NULL superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin - no_errors GOLGA6L6 HGNC GOLGA6L6 727832 genome.wustl.edu 37 15 20740454 20740454 + Missense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 20740454 20740454 C A SNP GOLGA6L6 ENST00000427390 human ensembl 70_37 -1 known missense c.1296 p.M432I 0.728 NULL superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin - no_errors GOLGA6L6 HGNC GOLGA7B 401647 genome.wustl.edu 37 10 99625350 99625350 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 99625350 99625350 G C SNP GOLGA7B ENST00000370602 human ensembl 70_37 +1 known missense c.397 p.E133Q 1.000 NULL pfam_Golgin_A_7/ERF4 - no_errors GOLGA7B HGNC GOLPH3 64083 genome.wustl.edu 37 5 32126046 32126046 + RNA SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 32126046 32126046 G T SNP GOLPH3 ENST00000499354 human ensembl 70_37 -1 known rna NULL NULL 0.020 - - - no_errors GOLPH3 HGNC GON4L 54856 genome.wustl.edu 37 1 155733122 155733122 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 155733122 155733122 C T SNP GON4L ENST00000368331 human ensembl 70_37 -1 known silent c.4707 p.E1569 0.998 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC GON4L 54856 genome.wustl.edu 37 1 155733142 155733142 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 155733142 155733142 C T SNP GON4L ENST00000368331 human ensembl 70_37 -1 known missense c.4687 p.E1563K 0.000 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC GON4L 54856 genome.wustl.edu 37 1 155733290 155733290 + Missense_Mutation SNP T T A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 155733290 155733290 T A SNP GON4L ENST00000368331 human ensembl 70_37 -1 known missense c.4539 p.E1513D 1.000 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC GON4L 54856 genome.wustl.edu 37 1 155734823 155734823 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 155734823 155734823 C G SNP GON4L ENST00000368331 human ensembl 70_37 -1 known missense c.4441 p.E1481Q 1.000 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC GP9 2815 genome.wustl.edu 37 3 128780619 128780619 + Missense_Mutation SNP A A G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 128780619 128780619 A G SNP GP9 ENST00000307395 human ensembl 70_37 +1 known missense c.37 p.T13A 0.000 NULL pfam_LRR-contain_N,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C - no_errors GP9 HGNC GPATCH3 63906 genome.wustl.edu 37 1 27218951 27218951 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 27218951 27218951 C G SNP GPATCH3 ENST00000361720 human ensembl 70_37 -1 known missense c.1312 p.E438Q 1.000 pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH3 HGNC GPC6 10082 genome.wustl.edu 37 13 94958240 94958240 + Nonsense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 94958240 94958240 C T SNP GPC6 ENST00000377047 human ensembl 70_37 +1 known nonsense c.1015 p.Q339* 1.000 pfam_Glypican pfam_Glypican - no_errors GPC6 HGNC GPIHBP1 338328 genome.wustl.edu 37 8 144295729 144295729 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 144295729 144295729 G C SNP GPIHBP1 ENST00000330824 human ensembl 70_37 +1 known missense c.85 p.E29Q 0.006 NULL pfam_LY6_UPAR - no_errors GPIHBP1 HGNC GPR116 221395 genome.wustl.edu 37 6 46827113 46827113 + Missense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 46827113 46827113 G T SNP GPR116 ENST00000265417 human ensembl 70_37 -1 known missense c.2527 p.P843T 0.000 NULL pfam_GPCR_2_secretin-like,pfam_SEA,pfam_GPS_dom,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,pfscan_Ig-like,prints_GPCR_2_Ig-hepta_rcpt,prints_GPCR_2_secretin-like - no_errors GPR116 HGNC GPR126 57211 genome.wustl.edu 37 6 142703096 142703096 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 142703096 142703096 C G SNP GPR126 ENST00000367609 human ensembl 70_37 +1 known missense c.1078 p.L360V 1.000 NULL pfam_GPCR_2_secretin-like,pfam_CUB,pfam_GPS_dom,pfam_Pentaxin,superfamily_CUB,superfamily_ConA-like_lec_gl_sf,smart_CUB,smart_Pentaxin,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR126 HGNC GPR151 134391 genome.wustl.edu 37 5 145895133 145895133 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 145895133 145895133 C T SNP GPR151 ENST00000311104 human ensembl 70_37 -1 known missense c.544 p.E182K 0.799 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR151 HGNC GPR153 387509 genome.wustl.edu 37 1 6310673 6310673 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 6310673 6310673 C T SNP GPR153 ENST00000377893 human ensembl 70_37 -1 known missense c.991 p.E331K 1.000 prints_GPCR_153 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_153,prints_GPCR_153/162 - no_errors GPR153 HGNC GPR155 151556 genome.wustl.edu 37 2 175311387 175311387 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 175311387 175311387 C T SNP GPR155 ENST00000295500 human ensembl 70_37 -1 known silent c.1965 p.L655 1.000 NULL pfam_Auxin_eff,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors GPR155 HGNC GPR156 165829 genome.wustl.edu 37 3 119886581 119886581 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 119886581 119886581 G A SNP GPR156 ENST00000315843 human ensembl 70_37 -1 known silent c.1743 p.F581 0.036 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B - no_errors GPR156 HGNC GPR171 29909 genome.wustl.edu 37 3 150916599 150916599 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 150916599 150916599 G A SNP GPR171 ENST00000309180 human ensembl 70_37 -1 known missense c.575 p.S192L 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors GPR171 HGNC GPR176 11245 genome.wustl.edu 37 15 40093710 40093710 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 40093710 40093710 C G SNP GPR176 ENST00000561100 human ensembl 70_37 -1 known missense c.1171 p.E391Q 1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR176 HGNC GPR78 27201 genome.wustl.edu 37 4 8584565 8584565 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 8584565 8584565 C G SNP GPR78 ENST00000504255 human ensembl 70_37 +1 known rna NULL NULL 0.007 - - - no_errors GPR78 HGNC GPR98 84059 genome.wustl.edu 37 5 90079012 90079012 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 90079012 90079012 G A SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known missense c.13303 p.D4435N 0.978 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC GPRIN3 285513 genome.wustl.edu 37 4 90170537 90170537 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 90170537 90170537 G C SNP GPRIN3 ENST00000333209 human ensembl 70_37 -1 known missense c.725 p.S242C 0.000 NULL NULL - no_errors GPRIN3 HGNC GPSM2 29899 genome.wustl.edu 37 1 109444509 109444509 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 109444509 109444509 G A SNP GPSM2 ENST00000264126 human ensembl 70_37 +1 known missense c.895 p.E299K 1.000 pfam_TPR-1,smart_TPR_repeat,pfscan_TPR-contain_dom pfam_GoLoco_motif,pfam_TPR-1,pfam_TPR-4,smart_TPR_repeat,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors GPSM2 HGNC GPX7 2882 genome.wustl.edu 37 1 53072635 53072635 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 53072635 53072635 C T SNP GPX7 ENST00000459779 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors GPX7 HGNC GRAMD2 196996 genome.wustl.edu 37 15 72454718 72454718 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 72454718 72454718 C T SNP GRAMD2 ENST00000309731 human ensembl 70_37 -1 known silent c.957 p.L319 1.000 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD2 HGNC GRB14 2888 genome.wustl.edu 37 2 165349469 165349469 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 165349469 165349469 C T SNP GRB14 ENST00000497306 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors GRB14 HGNC GRHL2 79977 genome.wustl.edu 37 8 102678907 102678907 + Missense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 102678907 102678907 C A SNP GRHL2 ENST00000251808 human ensembl 70_37 +1 known missense c.1854 p.F618L 1.000 NULL pfam_CP2 - no_errors GRHL2 HGNC GRHL3 57822 genome.wustl.edu 37 1 24664502 24664502 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 24664502 24664502 C T SNP GRHL3 ENST00000350501 human ensembl 70_37 +1 known silent c.861 p.F287 0.995 pfam_CP2 pfam_CP2,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors GRHL3 HGNC GRIA3 2892 genome.wustl.edu 37 X 122387269 122387269 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 122387269 122387269 C G SNP GRIA3 ENST00000264357 human ensembl 70_37 +1 known missense c.384 p.S128R 1.000 pfam_ANF_lig-bd_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA3 HGNC GRIA3 2892 genome.wustl.edu 37 X 122387377 122387377 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 122387377 122387377 C T SNP GRIA3 ENST00000264357 human ensembl 70_37 +1 known silent c.492 p.L164 0.993 pfam_ANF_lig-bd_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA3 HGNC GRIA4 2893 genome.wustl.edu 37 11 105774694 105774694 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 105774694 105774694 G A SNP GRIA4 ENST00000282499 human ensembl 70_37 +1 known missense c.1040 p.R347K 1.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA4 HGNC GRIK1 2897 genome.wustl.edu 37 21 30925920 30925920 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 21 30925920 30925920 C G SNP GRIK1 ENST00000309434 human ensembl 70_37 -1 known missense c.2719 p.E907Q 1.000 NULL pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK1 HGNC GRIN2B 2904 genome.wustl.edu 37 12 13716489 13716489 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 13716489 13716489 G A SNP GRIN2B ENST00000279593 human ensembl 70_37 -1 known missense c.3683 p.T1228M 0.019 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2B HGNC GRIP1 23426 genome.wustl.edu 37 12 66770815 66770815 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 66770815 66770815 C G SNP GRIP1 ENST00000359742 human ensembl 70_37 -1 known missense c.2760 p.L920F 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GRIP1 HGNC GRIP1 23426 genome.wustl.edu 37 12 66788034 66788034 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 66788034 66788034 C T SNP GRIP1 ENST00000359742 human ensembl 70_37 -1 known missense c.2083 p.D695N 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GRIP1 HGNC GRIP1 23426 genome.wustl.edu 37 12 66788046 66788046 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 66788046 66788046 C G SNP GRIP1 ENST00000359742 human ensembl 70_37 -1 known missense c.2071 p.E691Q 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GRIP1 HGNC GRIP1 23426 genome.wustl.edu 37 12 66788130 66788130 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 66788130 66788130 C G SNP GRIP1 ENST00000359742 human ensembl 70_37 -1 known missense c.1987 p.E663Q 1.000 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GRIP1 HGNC GRK4 2868 genome.wustl.edu 37 4 2990493 2990493 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 2990493 2990493 G A SNP GRK4 ENST00000398052 human ensembl 70_37 +1 known missense c.188 p.G63E 1.000 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase - no_errors GRK4 HGNC GSDMA 284110 genome.wustl.edu 37 17 38121935 38121935 + Splice_Site SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 38121935 38121935 G C SNP GSDMA ENST00000301659 human ensembl 70_37 +1 known splice_site c.1-1 e1-1 0.886 - - - no_errors GSDMA HGNC GSTA3 2940 genome.wustl.edu 37 6 52770548 52770548 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 52770548 52770548 C T SNP GSTA3 ENST00000211122 human ensembl 70_37 -1 known missense c.85 p.E29K 0.970 pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold,prints_GST_alpha pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_alpha - no_errors GSTA3 HGNC GTDC2 84892 genome.wustl.edu 37 3 43122824 43122824 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 43122824 43122824 C T SNP GTDC2 ENST00000344697 human ensembl 70_37 -1 known missense c.100 p.E34K 1.000 NULL pfam_Glycosyltransferase_AER61,superfamily_Fibronectin_type3 - no_errors GTDC2 HGNC GTPBP1 9567 genome.wustl.edu 37 22 39117746 39117746 + Splice_Site SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 39117746 39117746 G C SNP GTPBP1 ENST00000216044 human ensembl 70_37 +1 known splice_site c.835-1 e5-1 1.000 - - - no_errors GTPBP1 HGNC MTG2 26164 genome.wustl.edu 37 20 60772729 60772729 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 60772729 60772729 G A SNP GTPBP5 ENST00000461411 human ensembl 70_37 +1 known rna NULL NULL 0.017 - - - no_errors GTPBP5 HGNC GUCA1A 2978 genome.wustl.edu 37 6 42141390 42141390 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 42141390 42141390 G A SNP GUCA1A ENST00000053469 human ensembl 70_37 +1 known silent c.39 p.L13 1.000 prints_Recoverin pfam_EF-hand,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin - no_errors GUCA1A HGNC GUCY1A3 2982 genome.wustl.edu 37 4 156632396 156632396 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 156632396 156632396 C G SNP GUCY1A3 ENST00000296518 human ensembl 70_37 +1 known missense c.1079 p.S360C 1.000 pfam_Haem_no_assoc-bd pfam_A/G_cyclase,pfam_Haem_no_assoc-bd,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A3 HGNC GUK1 2987 genome.wustl.edu 37 1 228333448 228333448 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 228333448 228333448 C G SNP GUK1 ENST00000470040 human ensembl 70_37 +1 known rna NULL NULL 0.008 - - - no_errors GUK1 HGNC GUK1 2987 genome.wustl.edu 37 1 228336139 228336139 + Nonstop_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 228336139 228336139 G C SNP GUK1 ENST00000366723 human ensembl 70_37 +1 known nonstop c.656 p.*219S 0.889 NULL pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin,tigrfam_Guanylate_kinase_sub - no_errors GUK1 HGNC GXYLT1 283464 genome.wustl.edu 37 12 42503418 42503418 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 42503418 42503418 C T SNP GXYLT1 ENST00000398675 human ensembl 70_37 -1 known missense c.562 p.E188K 1.000 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GXYLT1 HGNC HAP1 9001 genome.wustl.edu 37 17 39890702 39890702 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 39890702 39890702 G A SNP HAP1 ENST00000310778 human ensembl 70_37 -1 known missense c.185 p.S62L 0.001 NULL pfam_HAP1_N - no_errors HAP1 HGNC HAUS4 54930 genome.wustl.edu 37 14 23416876 23416876 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 23416876 23416876 G C SNP HAUS4 ENST00000206474 human ensembl 70_37 -1 known missense c.773 p.S258C 0.994 NULL NULL - no_errors HAUS4 HGNC HCN3 57657 genome.wustl.edu 37 1 155258282 155258282 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 155258282 155258282 C T SNP HCN3 ENST00000496230 human ensembl 70_37 +1 known rna NULL NULL 0.227 - - - no_errors HCN3 HGNC HDAC11 79885 genome.wustl.edu 37 3 13545614 13545614 + Nonsense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 13545614 13545614 G A SNP HDAC11 ENST00000433119 human ensembl 70_37 +1 putative nonsense c.543 p.W181* 1.000 NULL pfam_His_deacetylse_dom - no_errors HDAC11 HGNC HDAC3 8841 genome.wustl.edu 37 5 141001051 141001051 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 141001051 141001051 C T SNP HDAC3 ENST00000305264 human ensembl 70_37 -1 known missense c.1271 p.S424N 1.000 pirsf_His_deacetylse_1 pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1,prints_His_deacetylse - no_errors HDAC3 HGNC HEATR4 399671 genome.wustl.edu 37 14 73989258 73989258 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 73989258 73989258 C G SNP HEATR4 ENST00000334988 human ensembl 70_37 -1 known missense c.599 p.R200T 0.989 NULL pfam_HEAT,superfamily_ARM-type_fold - no_errors HEATR4 HGNC MROH2B 133558 genome.wustl.edu 37 5 41038900 41038900 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 41038900 41038900 G C SNP HEATR7B2 ENST00000399564 human ensembl 70_37 -1 known missense c.2152 p.L718V 0.997 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR7B2 HGNC MROH2B 133558 genome.wustl.edu 37 5 41045946 41045946 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 41045946 41045946 C G SNP HEATR7B2 ENST00000399564 human ensembl 70_37 -1 known missense c.1738 p.E580Q 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR7B2 HGNC HECTD4 283450 genome.wustl.edu 37 12 112607485 112607485 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 112607485 112607485 C G SNP HECTD4 ENST00000547085 human ensembl 70_37 -1 putative missense c.159 p.L53F 0.000 NULL pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC HEG1 57493 genome.wustl.edu 37 3 124731882 124731882 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 124731882 124731882 C T SNP HEG1 ENST00000311127 human ensembl 70_37 -1 known silent c.2541 p.L847 0.000 NULL pfam_EG-like_dom,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom - no_errors HEG1 HGNC HELB 92797 genome.wustl.edu 37 12 66717770 66717770 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 66717770 66717770 C G SNP HELB ENST00000247815 human ensembl 70_37 +1 known missense c.2305 p.Q769E 1.000 NULL NULL - no_errors HELB HGNC HELB 92797 genome.wustl.edu 37 12 66731855 66731855 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 66731855 66731855 C G SNP HELB ENST00000247815 human ensembl 70_37 +1 known missense c.3237 p.F1079L 0.985 NULL NULL - no_errors HELB HGNC HELQ 113510 genome.wustl.edu 37 4 84358067 84358067 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 84358067 84358067 G A SNP HELQ ENST00000295488 human ensembl 70_37 -1 known silent c.1992 p.L664 1.000 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HELQ HGNC HERC2 8924 genome.wustl.edu 37 15 28517458 28517458 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 28517458 28517458 G A SNP HERC2 ENST00000261609 human ensembl 70_37 -1 known missense c.986 p.S329F 0.997 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens - no_errors HERC2 HGNC HGFAC 3083 genome.wustl.edu 37 4 3451045 3451045 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 3451045 3451045 G A SNP HGFAC ENST00000382774 human ensembl 70_37 +1 known missense c.1867 p.G623R 1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Coagulation_fac_XIIa/HGFA,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1_S6,pirsf_Coagulation_fac_XIIa/HGFA,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors HGFAC HGNC HIF3A 64344 genome.wustl.edu 37 19 46807342 46807342 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 46807342 46807342 G A SNP HIF3A ENST00000377670 human ensembl 70_37 +1 known missense c.214 p.A72T 1.000 superfamily_HLH_dom,smart_HLH_dom pfam_PAS_fold_3,pfam_PAS_fold,pfam_HIF_alpha_subunit,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,tigrfam_PAS - no_errors HIF3A HGNC HIST1H2AL 8332 genome.wustl.edu 37 6 27833221 27833221 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 27833221 27833221 G C SNP HIST1H2AL ENST00000357320 human ensembl 70_37 +1 known missense c.89 p.R30P 0.999 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AL HGNC HIST1H4B 8366 genome.wustl.edu 37 6 26027476 26027476 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 26027476 26027476 G A SNP HIST1H4B ENST00000377364 human ensembl 70_37 -1 known missense c.5 p.S2F 1.000 superfamily_Histone-fold pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4B HGNC HIST1H4G 8369 genome.wustl.edu 37 6 26247065 26247065 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 26247065 26247065 G A SNP HIST1H4G ENST00000244537 human ensembl 70_37 -1 known silent c.141 p.I47 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,prints_Histone_H4 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,prints_Histone_H4 - no_errors HIST1H4G HGNC HIST2H2AC 8338 genome.wustl.edu 37 1 149858613 149858613 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 149858613 149858613 G C SNP HIST2H2AC ENST00000331380 human ensembl 70_37 +1 known missense c.89 p.R30P 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST2H2AC HGNC HIST3H2A 92815 genome.wustl.edu 37 1 228645397 228645397 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 228645397 228645397 G C SNP HIST3H2A ENST00000366695 human ensembl 70_37 -1 known missense c.122 p.S41W 0.403 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST3H2A HGNC HIVEP2 3097 genome.wustl.edu 37 6 143074731 143074731 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 143074731 143074731 C T SNP HIVEP2 ENST00000012134 human ensembl 70_37 -1 known missense c.6854 p.R2285Q 0.040 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC HLA-B 3106 genome.wustl.edu 37 6 31323001 31323001 + Splice_Site SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 31323001 31323001 C T SNP HLA-B ENST00000412585 human ensembl 70_37 -1 known splice_site c.896-1 e5-1 0.931 - - - no_errors HLA-B HGNC HLA-V 352962 genome.wustl.edu 37 6 29764835 29764836 + RNA INS - - TT TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 29764835 29764836 - TT INS HLA-V ENST00000457107 human ensembl 70_37 +1 known rna NULL NULL 0.150:0.174 - - - no_errors HLA-V HGNC HLCS 3141 genome.wustl.edu 37 21 38129019 38129019 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 21 38129019 38129019 G C SNP HLCS ENST00000336648 human ensembl 70_37 -1 known missense c.1833 p.I611M 0.203 tigrfam_Biotin_CoA_COase_ligase pfam_BPL_LipA_LipB,pfam_BPL_C,tigrfam_Biotin_CoA_COase_ligase - no_errors HLCS HGNC HLX 3142 genome.wustl.edu 37 1 221053402 221053402 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 221053402 221053402 C T SNP HLX ENST00000366903 human ensembl 70_37 +1 known missense c.203 p.S68L 0.998 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa - no_errors HLX HGNC HMCN1 83872 genome.wustl.edu 37 1 186157140 186157140 + Missense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 186157140 186157140 G T SNP HMCN1 ENST00000271588 human ensembl 70_37 +1 known missense c.16540 p.G5514W 1.000 pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors HMCN1 HGNC HMGB2 3148 genome.wustl.edu 37 4 174254097 174254097 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 174254097 174254097 C T SNP HMGB2 ENST00000296503 human ensembl 70_37 -1 known missense c.346 p.E116K 1.000 pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors HMGB2 HGNC HMGCR 3156 genome.wustl.edu 37 5 74655364 74655364 + Nonsense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 74655364 74655364 C T SNP HMGCR ENST00000287936 human ensembl 70_37 +1 known nonsense c.2440 p.Q814* 1.000 pfam_HMG_CoA_Rdtase,superfamily_HMG_CoA_Rdtase_sub-bd,pfscan_HMG_CoA_Rdtase,tigrfam_HMG_CoA_Rdtase_metazoan,tigrfam_HMG_CoA_Rdtase_eu_arc pfam_HMG_CoA_Rdtase,pfam_Patched,superfamily_HMG_CoA_Rdtase_sub-bd,superfamily_HMG_CoA_Rdtase_NAD(P)-bd,pfscan_SSD,pfscan_HMG_CoA_Rdtase,prints_HMG_CoA_Rdtase,tigrfam_HMG_CoA_Rdtase_metazoan,tigrfam_HMG_CoA_Rdtase_eu_arc - no_errors HMGCR HGNC HOXA-AS4 100874323 genome.wustl.edu 37 7 27211464 27211464 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 27211464 27211464 G C SNP HOXA-AS4 ENST00000519935 human ensembl 70_37 +1 known rna NULL NULL 0.032 - - - no_errors HOXA-AS4 HGNC HOXA3 3200 genome.wustl.edu 37 7 27150136 27150136 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 27150136 27150136 C T SNP HOXA3 ENST00000317201 human ensembl 70_37 -1 known missense c.124 p.D42N 0.942 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXA3 HGNC HOXC11 3227 genome.wustl.edu 37 12 54367370 54367370 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 54367370 54367370 G A SNP HOXC11 ENST00000546378 human ensembl 70_37 +1 known missense c.345 p.M115I 1.000 pfam_DUF3528 pfam_DUF3528,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXC11 HGNC HSD17B4 3295 genome.wustl.edu 37 5 118811536 118811536 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 118811536 118811536 C T SNP HSD17B4 ENST00000256216 human ensembl 70_37 +1 known missense c.320 p.S107F 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,smart_PKS/FAS_KR pfam_MaoC_deHydtase,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors HSD17B4 HGNC HSD17B6 8630 genome.wustl.edu 37 12 57178733 57178733 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 57178733 57178733 G C SNP HSD17B6 ENST00000322165 human ensembl 70_37 +1 known missense c.669 p.M223I 0.000 NULL pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors HSD17B6 HGNC HSD17B8 7923 genome.wustl.edu 37 6 33173928 33173928 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 33173928 33173928 G A SNP HSD17B8 ENST00000374662 human ensembl 70_37 +1 known silent c.669 p.P223 0.365 prints_Glc/ribitol_DH,prints_DHB_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH,prints_ADH_insect - no_errors HSD17B8 HGNC HSD3B2 3284 genome.wustl.edu 37 1 119964793 119964793 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 119964793 119964793 C G SNP HSD3B2 ENST00000369416 human ensembl 70_37 +1 known silent c.669 p.V223 0.735 pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_NmrA,pfam_PKS_KR - no_errors HSD3B2 HGNC HSD3B7 80270 genome.wustl.edu 37 16 30998216 30998216 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 30998216 30998216 G A SNP HSD3B7 ENST00000297679 human ensembl 70_37 +1 known missense c.587 p.G196D 1.000 pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Polysac_CapD-like,pfam_dTDP_dehydrorham_reduct,pfam_NmrA - no_errors HSD3B7 HGNC HSPA2 3306 genome.wustl.edu 37 14 65009338 65009338 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 65009338 65009338 G A SNP HSPA2 ENST00000247207 human ensembl 70_37 +1 known missense c.1771 p.E591K 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA2 HGNC HTR1B 3351 genome.wustl.edu 37 6 78173093 78173093 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 78173093 78173093 G A SNP HTR1B ENST00000369947 human ensembl 70_37 -1 known missense c.28 p.P10S 0.999 prints_5HT1B_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT1B_rcpt,prints_5HT_rcpt,prints_Adrnrgc_rcpt - no_errors HTR1B HGNC HTR3A 3359 genome.wustl.edu 37 11 113860273 113860273 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 113860273 113860273 C T SNP HTR3A ENST00000355556 human ensembl 70_37 +1 known missense c.1339 p.R447W 0.127 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_A,prints_5HT3_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors HTR3A HGNC HTR6 3362 genome.wustl.edu 37 1 19992308 19992308 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 19992308 19992308 C T SNP HTR6 ENST00000289753 human ensembl 70_37 +1 known missense c.62 p.S21L 0.654 prints_5HT6_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT6_rcpt,prints_GPCR_Rhodpsn - no_errors HTR6 HGNC HUWE1 10075 genome.wustl.edu 37 X 53560326 53560326 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 53560326 53560326 G A SNP HUWE1 ENST00000262854 human ensembl 70_37 -1 known missense c.13069 p.R4357C 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC HUWE1 10075 genome.wustl.edu 37 X 53588727 53588727 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 53588727 53588727 G C SNP HUWE1 ENST00000262854 human ensembl 70_37 -1 known missense c.7497 p.F2499L 1.000 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC HUWE1 10075 genome.wustl.edu 37 X 53589104 53589104 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 53589104 53589104 C T SNP HUWE1 ENST00000262854 human ensembl 70_37 -1 known missense c.7306 p.E2436K 1.000 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC HUWE1 10075 genome.wustl.edu 37 X 53655822 53655822 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 53655822 53655822 G C SNP HUWE1 ENST00000262854 human ensembl 70_37 -1 known missense c.995 p.T332R 1.000 pfam_E3_Ub_ligase_DUF908,superfamily_ARM-type_fold pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC HYDIN 54768 genome.wustl.edu 37 16 71008192 71008192 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 71008192 71008192 C G SNP HYDIN ENST00000316490 human ensembl 70_37 -1 known missense c.4918 p.E1640Q 0.996 NULL superfamily_PapD-like - no_errors HYDIN HGNC IBTK 25998 genome.wustl.edu 37 6 82906017 82906017 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 82906017 82906017 C T SNP IBTK ENST00000306270 human ensembl 70_37 -1 known missense c.3172 p.E1058K 1.000 NULL pfam_Reg_chr_condens,pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens - no_errors IBTK HGNC IDS 3423 genome.wustl.edu 37 X 148564588 148564588 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 148564588 148564588 C T SNP IDS ENST00000340855 human ensembl 70_37 -1 known missense c.1342 p.E448K 0.142 superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors IDS HGNC IFT81 28981 genome.wustl.edu 37 12 110628815 110628815 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 110628815 110628815 G A SNP IFT81 ENST00000242591 human ensembl 70_37 +1 known missense c.1429 p.E477K 1.000 NULL NULL - no_errors IFT81 HGNC IGSF10 285313 genome.wustl.edu 37 3 151161083 151161083 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 151161083 151161083 C T SNP IGSF10 ENST00000282466 human ensembl 70_37 -1 known silent c.5652 p.V1884 0.119 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors IGSF10 HGNC IGSF10 285313 genome.wustl.edu 37 3 151163396 151163396 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 151163396 151163396 C G SNP IGSF10 ENST00000282466 human ensembl 70_37 -1 known missense c.4373 p.R1458T 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors IGSF10 HGNC IK 3550 genome.wustl.edu 37 5 140038676 140038676 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 140038676 140038676 G A SNP IK ENST00000417647 human ensembl 70_37 +1 known missense c.1103 p.R368Q 1.000 NULL pfam_RED_N,pfam_RED_C - no_errors IK HGNC IL33 90865 genome.wustl.edu 37 9 6256139 6256139 + Missense_Mutation SNP A A T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 6256139 6256139 A T SNP IL33 ENST00000381434 human ensembl 70_37 +1 known missense c.784 p.N262Y 0.001 NULL NULL - no_errors IL33 HGNC IL6R 3570 genome.wustl.edu 37 1 154407108 154407108 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 154407108 154407108 C G SNP IL6R ENST00000368485 human ensembl 70_37 +1 known missense c.572 p.S191C 0.113 pfam_IL6_recept-bd,superfamily_Fibronectin_type3 pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IL6R HGNC INF2 64423 genome.wustl.edu 37 14 105180715 105180715 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 105180715 105180715 G A SNP INF2 ENST00000392634 human ensembl 70_37 +1 known silent c.3216 p.L1072 0.048 NULL pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_WH2_dom,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg,pfscan_WH2_dom - no_errors INF2 HGNC INO80 54617 genome.wustl.edu 37 15 41279304 41279304 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 41279304 41279304 C T SNP INO80 ENST00000361937 human ensembl 70_37 -1 known missense c.3817 p.E1273K 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors INO80 HGNC INPPL1 3636 genome.wustl.edu 37 11 71941061 71941061 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 71941061 71941061 G A SNP INPPL1 ENST00000298229 human ensembl 70_37 +1 known missense c.937 p.E313K 1.000 NULL pfam_Endo/exonuclease/phosphatase,pfam_SH2,pfam_SAM_2,pfam_SAM_type1,superfamily_Endo/exonuclease/phosphatase,superfamily_SAM/pointed,smart_SH2,smart_IPPc,smart_SAM,pfscan_SAM,pfscan_SH2,prints_SH2 - no_errors INPPL1 HGNC INPPL1 3636 genome.wustl.edu 37 11 71941062 71941062 + Missense_Mutation SNP A A T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 71941062 71941062 A T SNP INPPL1 ENST00000298229 human ensembl 70_37 +1 known missense c.938 p.E313V 1.000 NULL pfam_Endo/exonuclease/phosphatase,pfam_SH2,pfam_SAM_2,pfam_SAM_type1,superfamily_Endo/exonuclease/phosphatase,superfamily_SAM/pointed,smart_SH2,smart_IPPc,smart_SAM,pfscan_SAM,pfscan_SH2,prints_SH2 - no_errors INPPL1 HGNC INSR 3643 genome.wustl.edu 37 19 7119532 7119532 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 7119532 7119532 G C SNP INSR ENST00000302850 human ensembl 70_37 -1 known missense c.3722 p.S1241C 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_insulin-like_rcpt,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_insulin-like_rcpt,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors INSR HGNC INTS1 26173 genome.wustl.edu 37 7 1523759 1523759 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 1523759 1523759 G C SNP INTS1 ENST00000389470 human ensembl 70_37 -1 known silent c.3795 p.L1265 1.000 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC IPO11 51194 genome.wustl.edu 37 5 61822025 61822025 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 61822025 61822025 G A SNP IPO11 ENST00000409296 human ensembl 70_37 +1 known silent c.2073 p.L691 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO11 HGNC IQCE 23288 genome.wustl.edu 37 7 2637913 2637913 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 2637913 2637913 C T SNP IQCE ENST00000486730 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors IQCE HGNC IQGAP2 10788 genome.wustl.edu 37 5 75896663 75896663 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 75896663 75896663 G C SNP IQGAP2 ENST00000274364 human ensembl 70_37 +1 known missense c.1098 p.L366F 0.959 NULL pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP - no_errors IQGAP2 HGNC ITFG3 83986 genome.wustl.edu 37 16 314676 314676 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 314676 314676 G C SNP ITFG3 ENST00000301678 human ensembl 70_37 +1 known missense c.1408 p.E470Q 1.000 NULL superfamily_Quinonprotein_ADH-like - no_errors ITFG3 HGNC ITGA11 22801 genome.wustl.edu 37 15 68613817 68613817 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 68613817 68613817 C G SNP ITGA11 ENST00000315757 human ensembl 70_37 -1 known missense c.2347 p.E783Q 0.989 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA11 HGNC ITGA3 3675 genome.wustl.edu 37 17 48156607 48156607 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 48156607 48156607 C G SNP ITGA3 ENST00000320031 human ensembl 70_37 +1 known silent c.2568 p.L856 0.998 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA3 HGNC ITGA7 3679 genome.wustl.edu 37 12 56092581 56092581 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 56092581 56092581 C T SNP ITGA7 ENST00000555728 human ensembl 70_37 -1 known missense c.1043 p.R348H 1.000 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA7 HGNC ITGA9 3680 genome.wustl.edu 37 3 37565067 37565067 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 37565067 37565067 C T SNP ITGA9 ENST00000264741 human ensembl 70_37 +1 known missense c.1292 p.S431L 1.000 smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA9 HGNC ITGAM 3684 genome.wustl.edu 37 16 31282320 31282320 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 31282320 31282320 C G SNP ITGAM ENST00000544665 human ensembl 70_37 +1 known missense c.473 p.S158C 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAM HGNC ITGAX 3687 genome.wustl.edu 37 16 31372399 31372399 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 31372399 31372399 C G SNP ITGAX ENST00000268296 human ensembl 70_37 +1 known missense c.877 p.Q293E 0.018 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAX HGNC ITGB7 3695 genome.wustl.edu 37 12 53591317 53591318 + Frame_Shift_Ins INS - - A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 53591317 53591318 - A INS ITGB7 ENST00000267082 human ensembl 70_37 -1 known frame_shift_ins c.534_533 p.L179fs 0.993:0.995 pfam_Integrin_bsu_N,smart_Integrin_bsu_N,pirsf_Integrin_bsu pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_EGF_extracell,superfamily_Plexin-like_fold,superfamily_Integrin_bsu_tail,smart_Plexin-like,smart_Integrin_bsu_N,pirsf_Integrin_bsu,prints_Integrin_bsu - no_errors ITGB7 HGNC ITGB7 3695 genome.wustl.edu 37 12 53591319 53591319 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 53591319 53591319 G A SNP ITGB7 ENST00000267082 human ensembl 70_37 -1 known silent c.532 p.L178 0.966 pfam_Integrin_bsu_N,smart_Integrin_bsu_N,pirsf_Integrin_bsu pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_EGF_extracell,superfamily_Plexin-like_fold,superfamily_Integrin_bsu_tail,smart_Plexin-like,smart_Integrin_bsu_N,pirsf_Integrin_bsu,prints_Integrin_bsu - no_errors ITGB7 HGNC ITIH2 3698 genome.wustl.edu 37 10 7769676 7769676 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 7769676 7769676 C G SNP ITIH2 ENST00000358415 human ensembl 70_37 +1 known missense c.1164 p.I388M 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH2 HGNC ITPR2 3709 genome.wustl.edu 37 12 26816701 26816701 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 26816701 26816701 G C SNP ITPR2 ENST00000381340 human ensembl 70_37 -1 known missense c.1630 p.Q544E 1.000 pfam_Ca-rel_channel pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,pfscan_MIR_motif,prints_InsP3_rcpt-bd - no_errors ITPR2 HGNC ITSN2 50618 genome.wustl.edu 37 2 24439053 24439053 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 24439053 24439053 C T SNP ITSN2 ENST00000355123 human ensembl 70_37 -1 known silent c.3855 p.Q1285 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN2 HGNC IYD 389434 genome.wustl.edu 37 6 150690249 150690249 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 150690249 150690249 G C SNP IYD ENST00000229447 human ensembl 70_37 +1 known missense c.82 p.E28Q 0.000 NULL pfam_Nitroreductase-like,superfamily_Nitroreductase-like - no_errors IYD HGNC JAKMIP1 152789 genome.wustl.edu 37 4 6087285 6087285 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 6087285 6087285 C T SNP JAKMIP1 ENST00000409021 human ensembl 70_37 -1 known silent c.696 p.Q232 0.999 NULL NULL - no_errors JAKMIP1 HGNC JTB 10899 genome.wustl.edu 37 1 153949189 153949189 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 153949189 153949189 G A SNP JTB ENST00000271843 human ensembl 70_37 -1 known missense c.184 p.P62S 0.166 pfam_JTB pfam_JTB - no_errors JTB HGNC JUNB 3726 genome.wustl.edu 37 19 12903464 12903464 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 12903464 12903464 C G SNP JUNB ENST00000302754 human ensembl 70_37 +1 known missense c.879 p.I293M 1.000 pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun pfam_JNK,pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun - no_errors JUNB HGNC KANK4 163782 genome.wustl.edu 37 1 62738964 62738964 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 62738964 62738964 C T SNP KANK4 ENST00000371153 human ensembl 70_37 -1 known silent c.1812 p.L604 0.948 NULL pfam_KN_motif,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK4 HGNC KATNA1 11104 genome.wustl.edu 37 6 149918311 149918311 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 149918311 149918311 C T SNP KATNA1 ENST00000335647 human ensembl 70_37 -1 known missense c.1165 p.E389K 1.000 NULL pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase - no_errors KATNA1 HGNC KATNA1 11104 genome.wustl.edu 37 6 149919411 149919411 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 149919411 149919411 C G SNP KATNA1 ENST00000335647 human ensembl 70_37 -1 known missense c.964 p.E322Q 1.000 pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase - no_errors KATNA1 HGNC KAZN 23254 genome.wustl.edu 37 1 15386730 15386730 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 15386730 15386730 G A SNP KAZN ENST00000376030 human ensembl 70_37 +1 known missense c.979 p.E327K 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors KAZN HGNC KBTBD12 166348 genome.wustl.edu 37 3 127703061 127703061 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 127703061 127703061 G A SNP KBTBD12 ENST00000405109 human ensembl 70_37 +1 known missense c.1812 p.M604I 1.000 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD12 HGNC KCNA6 3742 genome.wustl.edu 37 12 4920131 4920131 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 4920131 4920131 C T SNP KCNA6 ENST00000280684 human ensembl 70_37 +1 known silent c.924 p.F308 1.000 pfam_Ion_trans_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA6 HGNC KCND3 3752 genome.wustl.edu 37 1 112525016 112525016 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 112525016 112525016 G A SNP KCND3 ENST00000315987 human ensembl 70_37 -1 known silent c.333 p.I111 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 pfam_K_chnl_volt-dep_Kv4_C,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.3,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 - no_errors KCND3 HGNC KCNH5 27133 genome.wustl.edu 37 14 63175099 63175099 + Silent SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 63175099 63175099 G T SNP KCNH5 ENST00000322893 human ensembl 70_37 -1 known silent c.2094 p.L698 1.000 NULL pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_cNMP-bd_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH5 HGNC KCNJ12 3768 genome.wustl.edu 37 17 21319444 21319444 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 21319444 21319444 C G SNP KCNJ12 ENST00000331718 human ensembl 70_37 +1 known missense c.790 p.L264V 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2 - no_errors KCNJ12 HGNC KCNK16 83795 genome.wustl.edu 37 6 39282796 39282796 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 39282796 39282796 C T SNP KCNK16 ENST00000373229 human ensembl 70_37 -1 known silent c.912 p.K304 0.000 NULL pfam_Ion_trans_2,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK16 HGNC KCNMB4 27345 genome.wustl.edu 37 12 70760704 70760704 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 70760704 70760704 G A SNP KCNMB4 ENST00000258111 human ensembl 70_37 +1 known missense c.190 p.E64K 1.000 pfam_K_chnl_Ca-activ_BK_bsu pfam_K_chnl_Ca-activ_BK_bsu - no_errors KCNMB4 HGNC KCNT1 57582 genome.wustl.edu 37 9 138662821 138662821 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 138662821 138662821 G A SNP KCNT1 ENST00000298480 human ensembl 70_37 +1 known missense c.1888 p.E630K 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2 - no_errors KCNT1 HGNC KCNU1 157855 genome.wustl.edu 37 8 36675259 36675259 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 36675259 36675259 G C SNP KCNU1 ENST00000399881 human ensembl 70_37 +1 known missense c.1087 p.E363Q 0.988 prints_K_chnl_Ca-activ_BK_asu pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2,prints_K_chnl_Ca-activ_BK_asu - no_errors KCNU1 HGNC KCTD15 79047 genome.wustl.edu 37 19 34302352 34302352 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 34302352 34302352 G A SNP KCTD15 ENST00000430256 human ensembl 70_37 +1 known silent c.588 p.E196 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD15 HGNC KDM1B 221656 genome.wustl.edu 37 6 18215304 18215304 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 18215304 18215304 G A SNP KDM1B ENST00000388870 human ensembl 70_37 +1 known missense c.2179 p.D727N 0.999 pfam_Amino_oxidase pfam_Amino_oxidase,pfam_Znf_CW,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_SWIRM,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,superfamily_Homeodomain-like,pfscan_SWIRM,pfscan_Znf_CW - no_errors KDM1B HGNC KDM2B 84678 genome.wustl.edu 37 12 121947490 121947490 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 121947490 121947490 G C SNP KDM2B ENST00000377071 human ensembl 70_37 -1 known silent c.1527 p.L509 1.000 NULL pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2B HGNC KDM3B 51780 genome.wustl.edu 37 5 137762663 137762663 + Splice_Site SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 137762663 137762663 G C SNP KDM3B ENST00000314358 human ensembl 70_37 +1 known splice_site c.4412-1 e18-1 1.000 - - - no_errors KDM3B HGNC KDM3B 51780 genome.wustl.edu 37 5 137762890 137762890 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 137762890 137762890 G C SNP KDM3B ENST00000314358 human ensembl 70_37 +1 known silent c.4515 p.L1505 0.998 smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3B HGNC KDM4B 23030 genome.wustl.edu 37 19 5119803 5119803 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 5119803 5119803 G A SNP KDM4B ENST00000159111 human ensembl 70_37 +1 known missense c.1255 p.E419K 0.988 NULL pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4B HGNC KIAA0125 9834 genome.wustl.edu 37 14 106391135 106391135 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 106391135 106391135 C G SNP KIAA0125 ENST00000482999 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors KIAA0125 HGNC KIAA0196 9897 genome.wustl.edu 37 8 126085488 126085488 + Nonsense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 126085488 126085488 C A SNP KIAA0196 ENST00000318410 human ensembl 70_37 -1 known nonsense c.1057 p.E353* 1.000 pfam_WASH_strumpellin pfam_WASH_strumpellin,superfamily_Ig_E-set - no_errors KIAA0196 HGNC GLTSCR1L 23506 genome.wustl.edu 37 6 42823607 42823607 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 42823607 42823607 C T SNP KIAA0240 ENST00000314073 human ensembl 70_37 +1 known missense c.2060 p.S687L 0.897 NULL NULL - no_errors KIAA0240 HGNC KIAA0556 23247 genome.wustl.edu 37 16 27710918 27710918 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 27710918 27710918 G A SNP KIAA0556 ENST00000261588 human ensembl 70_37 +1 known missense c.1177 p.E393K 0.965 NULL superfamily_Thaumatin - no_errors KIAA0556 HGNC KIAA0556 23247 genome.wustl.edu 37 16 27751738 27751738 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 27751738 27751738 C G SNP KIAA0556 ENST00000261588 human ensembl 70_37 +1 known missense c.2120 p.S707W 0.000 NULL superfamily_Thaumatin - no_errors KIAA0556 HGNC CLUHP3 100132341 genome.wustl.edu 37 16 31715702 31715702 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 31715702 31715702 G A SNP KIAA0664L3 ENST00000254109 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors KIAA0664L3 HGNC KIAA0930 23313 genome.wustl.edu 37 22 45599773 45599773 + Nonsense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 45599773 45599773 G A SNP KIAA0930 ENST00000251993 human ensembl 70_37 -1 known nonsense c.625 p.Q209* 1.000 pfam_DUF2045 pfam_DUF2045 - no_errors KIAA0930 HGNC KIAA1009 22832 genome.wustl.edu 37 6 84884571 84884571 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 84884571 84884571 C G SNP KIAA1009 ENST00000403245 human ensembl 70_37 -1 known missense c.1900 p.E634Q 1.000 NULL NULL - no_errors KIAA1009 HGNC KIAA1107 23285 genome.wustl.edu 37 1 92647579 92647579 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 92647579 92647579 G C SNP KIAA1107 ENST00000409154 human ensembl 70_37 +1 known missense c.3190 p.E1064Q 1.000 NULL NULL - no_errors KIAA1107 HGNC KIAA1109 84162 genome.wustl.edu 37 4 123140590 123140590 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 123140590 123140590 G C SNP KIAA1109 ENST00000264501 human ensembl 70_37 +1 known missense c.2343 p.W781C 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC KIAA1279 26128 genome.wustl.edu 37 10 70775519 70775519 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 70775519 70775519 G C SNP KIAA1279 ENST00000361983 human ensembl 70_37 +1 known missense c.1213 p.E405Q 0.999 pfam_KBP pfam_KBP - no_errors KIAA1279 HGNC KIAA1279 26128 genome.wustl.edu 37 10 70775758 70775758 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 70775758 70775758 G C SNP KIAA1279 ENST00000361983 human ensembl 70_37 +1 known missense c.1452 p.M484I 1.000 pfam_KBP pfam_KBP - no_errors KIAA1279 HGNC KIAA1279 26128 genome.wustl.edu 37 10 70776150 70776150 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 70776150 70776150 G A SNP KIAA1279 ENST00000361983 human ensembl 70_37 +1 known missense c.1844 p.R615K 1.000 NULL pfam_KBP - no_errors KIAA1279 HGNC MAP10 54627 genome.wustl.edu 37 1 232943202 232943202 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 232943202 232943202 C G SNP KIAA1383 ENST00000418460 human ensembl 70_37 +1 known silent c.2433 p.V811 0.000 NULL NULL - no_errors KIAA1383 HGNC KIAA1429 25962 genome.wustl.edu 37 8 95523629 95523629 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 95523629 95523629 C G SNP KIAA1429 ENST00000297591 human ensembl 70_37 -1 known missense c.3174 p.Q1058H 1.000 NULL superfamily_ARM-type_fold - no_errors KIAA1429 HGNC KIAA1984 84960 genome.wustl.edu 37 9 139700619 139700619 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 139700619 139700619 G A SNP KIAA1984 ENST00000338005 human ensembl 70_37 +1 known silent c.1038 p.L346 0.651 NULL NULL - no_errors KIAA1984 HGNC KIAA1984 84960 genome.wustl.edu 37 9 139700649 139700649 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 139700649 139700649 G A SNP KIAA1984 ENST00000338005 human ensembl 70_37 +1 known silent c.1068 p.E356 0.957 NULL NULL - no_errors KIAA1984 HGNC KIAA1984 84960 genome.wustl.edu 37 9 139700700 139700700 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 139700700 139700700 G A SNP KIAA1984 ENST00000371682 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors KIAA1984 HGNC KIAA1984 84960 genome.wustl.edu 37 9 139701034 139701034 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 139701034 139701034 G A SNP KIAA1984 ENST00000338005 human ensembl 70_37 +1 known missense c.1188 p.M396I 0.816 NULL NULL - no_errors KIAA1984 HGNC KIAA2018 205717 genome.wustl.edu 37 3 113388987 113388987 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 113388987 113388987 C G SNP KIAA2018 ENST00000316407 human ensembl 70_37 -1 known missense c.140 p.C47S 1.000 pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors KIAA2018 HGNC KIAA2026 158358 genome.wustl.edu 37 9 6007497 6007497 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 6007497 6007497 G A SNP KIAA2026 ENST00000399933 human ensembl 70_37 -1 novel silent c.291 p.L97 1.000 NULL superfamily_Bromodomain - no_errors KIAA2026 HGNC KIF15 56992 genome.wustl.edu 37 3 44893412 44893412 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 44893412 44893412 G A SNP KIF15 ENST00000326047 human ensembl 70_37 +1 known missense c.3940 p.E1314K 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF15 HGNC KIF15 56992 genome.wustl.edu 37 3 44893430 44893430 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 44893430 44893430 G C SNP KIF15 ENST00000326047 human ensembl 70_37 +1 known missense c.3958 p.E1320Q 0.987 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF15 HGNC KIF1B 23095 genome.wustl.edu 37 1 10363419 10363419 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 10363419 10363419 G C SNP KIF1B ENST00000377083 human ensembl 70_37 +1 known missense c.2176 p.D726H 1.000 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC KIF1B 23095 genome.wustl.edu 37 1 10425556 10425556 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 10425556 10425556 C T SNP KIF1B ENST00000263934 human ensembl 70_37 +1 known silent c.4464 p.L1488 1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC KIF1B 23095 genome.wustl.edu 37 1 10425657 10425657 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 10425657 10425657 C T SNP KIF1B ENST00000263934 human ensembl 70_37 +1 known missense c.4565 p.S1522L 1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC KIF20A 10112 genome.wustl.edu 37 5 137520288 137520288 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 137520288 137520288 G C SNP KIF20A ENST00000394894 human ensembl 70_37 +1 known missense c.1606 p.E536Q 0.659 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20A HGNC KIF20B 9585 genome.wustl.edu 37 10 91503597 91503597 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 91503597 91503597 G A SNP KIF20B ENST00000416354 human ensembl 70_37 +1 known silent c.4038 p.L1346 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20B HGNC KIF20B 9585 genome.wustl.edu 37 10 91528105 91528105 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 91528105 91528105 C G SNP KIF20B ENST00000416354 human ensembl 70_37 +1 known missense c.5138 p.P1713R 0.337 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20B HGNC KIF26B 55083 genome.wustl.edu 37 1 245530223 245530223 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 245530223 245530223 G C SNP KIF26B ENST00000407071 human ensembl 70_37 +1 known missense c.553 p.D185H 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC KIF4A 24137 genome.wustl.edu 37 X 69561767 69561767 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 69561767 69561767 G C SNP KIF4A ENST00000374403 human ensembl 70_37 +1 known missense c.1252 p.E418Q 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4A HGNC KIF5B 3799 genome.wustl.edu 37 10 32326243 32326243 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 32326243 32326243 G C SNP KIF5B ENST00000302418 human ensembl 70_37 -1 known missense c.650 p.T217R 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5B HGNC KIFC1 3833 genome.wustl.edu 37 6 33368141 33368141 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 33368141 33368141 C T SNP KIFC1 ENST00000486695 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors KIFC1 HGNC KIFC1 3833 genome.wustl.edu 37 6 33368154 33368154 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 33368154 33368154 C T SNP KIFC1 ENST00000486695 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors KIFC1 HGNC KIFC3 3801 genome.wustl.edu 37 16 57831720 57831720 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 57831720 57831720 G A SNP KIFC3 ENST00000566975 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors KIFC3 HGNC KIR3DS1 3813 genome.wustl.edu 37 GL000209.1 27253 27253 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f GL000209.1 27253 27253 G C SNP KIR3DS1 ENST00000344867 human ensembl 70_37 +1 known silent c.456 p.R152 NULL pfam_Immunoglobulin,smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR3DS1 HGNC KIR3DS1 3813 genome.wustl.edu 37 GL000209.1 27299 27299 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f GL000209.1 27299 27299 G A SNP KIR3DS1 ENST00000344867 human ensembl 70_37 +1 known missense c.502 p.E168K NULL pfam_Immunoglobulin,smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR3DS1 HGNC KIR3DS1 3813 genome.wustl.edu 37 GL000209.1 27433 27433 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f GL000209.1 27433 27433 G A SNP KIR3DS1 ENST00000344867 human ensembl 70_37 +1 known silent c.636 p.S212 NULL smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR3DS1 HGNC KLF5 688 genome.wustl.edu 37 13 73636341 73636341 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 73636341 73636341 G A SNP KLF5 ENST00000377687 human ensembl 70_37 +1 known missense c.604 p.E202K 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF5 HGNC KLF5 688 genome.wustl.edu 37 13 73636562 73636562 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 73636562 73636562 G A SNP KLF5 ENST00000377687 human ensembl 70_37 +1 known silent c.825 p.V275 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF5 HGNC KLF5 688 genome.wustl.edu 37 13 73649905 73649905 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 73649905 73649905 G A SNP KLF5 ENST00000377687 human ensembl 70_37 +1 known missense c.1255 p.E419K 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF5 HGNC KLF9 687 genome.wustl.edu 37 9 73027987 73027987 + Missense_Mutation SNP T T G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 73027987 73027987 T G SNP KLF9 ENST00000377126 human ensembl 70_37 -1 known missense c.293 p.D98A 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF9 HGNC KLHDC7A 127707 genome.wustl.edu 37 1 18808470 18808470 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 18808470 18808470 C T SNP KLHDC7A ENST00000400664 human ensembl 70_37 +1 known missense c.995 p.S332L 0.000 NULL pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7A HGNC KLHDC7B 113730 genome.wustl.edu 37 22 50986892 50986892 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 50986892 50986892 G C SNP KLHDC7B ENST00000395676 human ensembl 70_37 +1 known silent c.297 p.A99 0.000 NULL pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7B HGNC KLHL11 55175 genome.wustl.edu 37 17 40010275 40010275 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 40010275 40010275 C G SNP KLHL11 ENST00000319121 human ensembl 70_37 -1 known missense c.1844 p.G615A 0.999 pfam_Kelch_1,smart_Kelch_1 pfam_BACK,pfam_BTB_POZ,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL11 HGNC KLHL13 90293 genome.wustl.edu 37 X 117043457 117043457 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 117043457 117043457 G C SNP KLHL13 ENST00000539496 human ensembl 70_37 -1 known silent c.1182 p.L394 0.990 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL13 HGNC KLK5 25818 genome.wustl.edu 37 19 51452178 51452178 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 51452178 51452178 G C SNP KLK5 ENST00000336334 human ensembl 70_37 -1 known missense c.529 p.H177D 0.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors KLK5 HGNC KNDC1 85442 genome.wustl.edu 37 10 135010587 135010587 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 135010587 135010587 G A SNP KNDC1 ENST00000368572 human ensembl 70_37 +1 known missense c.1760 p.R587Q 0.996 superfamily_Kinase-like_dom,smart_KIND pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors KNDC1 HGNC KNTC1 9735 genome.wustl.edu 37 12 123052845 123052845 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 123052845 123052845 G A SNP KNTC1 ENST00000333479 human ensembl 70_37 +1 known missense c.1642 p.D548N 0.998 NULL pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC KRT16P3 644945 genome.wustl.edu 37 17 20407705 20407705 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 20407705 20407705 G C SNP KRT16P3 ENST00000580621 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors KRT16P3 HGNC KRT18 3875 genome.wustl.edu 37 12 53344642 53344642 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 53344642 53344642 C T SNP KRT18 ENST00000388835 human ensembl 70_37 +1 known silent c.609 p.I203 1.000 pfam_F pfam_F,prints_Keratin_I - no_errors KRT18 HGNC KRT35 3886 genome.wustl.edu 37 17 39635695 39635695 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 39635695 39635695 C T SNP KRT35 ENST00000393989 human ensembl 70_37 -1 known silent c.615 p.R205 0.564 pfam_F,prints_Keratin_I pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT35 HGNC KRT5 3852 genome.wustl.edu 37 12 52908959 52908959 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 52908959 52908959 C T SNP KRT5 ENST00000252242 human ensembl 70_37 -1 known missense c.1540 p.G514R 0.003 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT5 HGNC KRT6C 286887 genome.wustl.edu 37 12 52863516 52863516 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 52863516 52863516 G C SNP KRT6C ENST00000252250 human ensembl 70_37 -1 known silent c.1362 p.V454 0.997 pfam_F,superfamily_Prefoldin pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6C HGNC KRT71 112802 genome.wustl.edu 37 12 52940257 52940257 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 52940257 52940257 C G SNP KRT71 ENST00000267119 human ensembl 70_37 -1 known missense c.1138 p.E380Q 0.995 pfam_F,superfamily_Prefoldin pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT71 HGNC KRTAP10-4 386672 genome.wustl.edu 37 21 45994702 45994702 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 21 45994702 45994702 G A SNP KRTAP10-4 ENST00000400374 human ensembl 70_37 +1 known missense c.1067 p.R356K 0.294 NULL NULL - no_errors KRTAP10-4 HGNC KSR2 283455 genome.wustl.edu 37 12 118199001 118199001 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 118199001 118199001 G A SNP KSR2 ENST00000339824 human ensembl 70_37 -1 known silent c.801 p.I267 0.268 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors KSR2 HGNC KTI12 112970 genome.wustl.edu 37 1 52498428 52498428 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 52498428 52498428 C T SNP KTI12 ENST00000371614 human ensembl 70_37 -1 known missense c.1006 p.E336K 1.000 pfam_Chromatin_KTI12 pfam_Chromatin_KTI12 - no_errors KTI12 HGNC KTN1 3895 genome.wustl.edu 37 14 56104059 56104059 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 56104059 56104059 G C SNP KTN1 ENST00000395309 human ensembl 70_37 +1 known missense c.1693 p.E565Q 1.000 NULL NULL - no_errors KTN1 HGNC LACTB 114294 genome.wustl.edu 37 15 63433500 63433500 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 63433500 63433500 G C SNP LACTB ENST00000261893 human ensembl 70_37 +1 known missense c.1140 p.K380N 1.000 pfam_Beta-lactam-related,superfamily_Beta-lactam/transpept-like pfam_Beta-lactam-related,superfamily_Beta-lactam/transpept-like - no_errors LACTB HGNC LAMA4 3910 genome.wustl.edu 37 6 112462006 112462006 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 112462006 112462006 C T SNP LAMA4 ENST00000230538 human ensembl 70_37 -1 known missense c.2932 p.E978K 0.836 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G - no_errors LAMA4 HGNC LATS1 9113 genome.wustl.edu 37 6 150005474 150005474 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 150005474 150005474 G C SNP LATS1 ENST00000253339 human ensembl 70_37 -1 known missense c.751 p.P251A 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/transl_elong_EF1B_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom - no_errors LATS1 HGNC LATS1 9113 genome.wustl.edu 37 6 150005552 150005552 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 150005552 150005552 G C SNP LATS1 ENST00000253339 human ensembl 70_37 -1 known missense c.673 p.Q225E 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/transl_elong_EF1B_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom - no_errors LATS1 HGNC LBR 3930 genome.wustl.edu 37 1 225600261 225600261 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 225600261 225600261 G C SNP LBR ENST00000272163 human ensembl 70_37 -1 known missense c.979 p.L327V 0.929 pfam_Ergosterol_biosynth_ERG4_ERG24 pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_Lamin-B_rcpt_of_tudor,pfam_DUF1295,smart_Tudor - no_errors LBR HGNC LCE1A 353131 genome.wustl.edu 37 1 152800280 152800280 + Nonstop_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 152800280 152800280 G T SNP LCE1A ENST00000335123 human ensembl 70_37 +1 known nonstop c.332 p.*111L 0.895 NULL NULL - no_errors LCE1A HGNC LCMT1 51451 genome.wustl.edu 37 16 25162856 25162856 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 25162856 25162856 C G SNP LCMT1 ENST00000572869 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LCMT1 HGNC LCMT2 9836 genome.wustl.edu 37 15 43622163 43622163 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 43622163 43622163 C T SNP LCMT2 ENST00000305641 human ensembl 70_37 -1 known silent c.525 p.A175 0.038 pfam_LCM_MeTrfase pfam_LCM_MeTrfase - no_errors LCMT2 HGNC LCN8 138307 genome.wustl.edu 37 9 139649782 139649782 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 139649782 139649782 C T SNP LCN8 ENST00000371688 human ensembl 70_37 -1 known missense c.335 p.R112Q 0.861 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like - no_errors LCN8 HGNC LCTL 197021 genome.wustl.edu 37 15 66857046 66857046 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 66857046 66857046 C G SNP LCTL ENST00000341509 human ensembl 70_37 -1 known missense c.250 p.D84H 1.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCTL HGNC LEKR1 389170 genome.wustl.edu 37 3 156544666 156544666 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 156544666 156544666 G A SNP LEKR1 ENST00000491763 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LEKR1 Uniprot_genename LEPRE1 64175 genome.wustl.edu 37 1 43213019 43213019 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 43213019 43213019 C G SNP LEPRE1 ENST00000236040 human ensembl 70_37 -1 known missense c.1979 p.G660A 1.000 pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors LEPRE1 HGNC LGALS3 3958 genome.wustl.edu 37 14 55609464 55609464 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 55609464 55609464 C G SNP LGALS3 ENST00000254301 human ensembl 70_37 +1 known missense c.594 p.F198L 1.000 pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD - no_errors LGALS3 HGNC LGR4 55366 genome.wustl.edu 37 11 27390317 27390317 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 27390317 27390317 C G SNP LGR4 ENST00000379214 human ensembl 70_37 -1 known missense c.1953 p.M651I 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pfscan_GPCR_Rhodpsn_7TM,prints_Gphrmn_rcpt,prints_GPCR_Rhodpsn - no_errors LGR4 HGNC LGR6 59352 genome.wustl.edu 37 1 202250137 202250137 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 202250137 202250137 C T SNP LGR6 ENST00000506931 human ensembl 70_37 +1 putative rna NULL NULL 0.009 - - - no_errors LGR6 HGNC LILRA5 353514 genome.wustl.edu 37 19 54822829 54822829 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 54822829 54822829 C T SNP LILRA5 ENST00000301219 human ensembl 70_37 -1 known silent c.567 p.L189 0.000 smart_Ig_sub smart_Ig_sub,smart_Ig_sub2 - no_errors LILRA5 HGNC LIN9 286826 genome.wustl.edu 37 1 226465515 226465515 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 226465515 226465515 C T SNP LIN9 ENST00000328205 human ensembl 70_37 -1 known missense c.691 p.E231K 1.000 pfam_DIRP pfam_DIRP - no_errors LIN9 HGNC LINC00281 26080 genome.wustl.edu 37 22 21663445 21663445 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 21663445 21663445 C T SNP LINC00281 ENST00000436681 human ensembl 70_37 -1 known rna NULL NULL 0.193 - - - no_errors LINC00281 HGNC LINC00319 284836 genome.wustl.edu 37 21 44870215 44870215 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 21 44870215 44870215 C T SNP LINC00319 ENST00000342757 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LINC00319 HGNC LINC00523 283601 genome.wustl.edu 37 14 101138355 101138355 + RNA SNP A A G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 101138355 101138355 A G SNP LINC00523 ENST00000360899 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LINC00523 HGNC LINC00610 399879 genome.wustl.edu 37 11 36293145 36293145 + RNA SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 36293145 36293145 C A SNP LINC00610 ENST00000355500 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00610 HGNC LINC00610 399879 genome.wustl.edu 37 11 36293351 36293351 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 36293351 36293351 C T SNP LINC00610 ENST00000355500 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00610 HGNC LINC00661 126536 genome.wustl.edu 37 19 16136857 16136857 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 16136857 16136857 G C SNP LINC00661 ENST00000379899 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors LINC00661 HGNC LINGO4 339398 genome.wustl.edu 37 1 151775027 151775027 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 151775027 151775027 C G SNP LINGO4 ENST00000368820 human ensembl 70_37 -1 known missense c.154 p.E52Q 1.000 smart_LRR-contain_N pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LINGO4 HGNC LIPC 3990 genome.wustl.edu 37 15 58853062 58853062 + Splice_Site SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 58853062 58853062 G C SNP LIPC ENST00000299022 human ensembl 70_37 +1 known splice_site c.1052-1 e7-1 1.000 - - - no_errors LIPC HGNC LIPC 3990 genome.wustl.edu 37 15 58853088 58853088 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 58853088 58853088 G C SNP LIPC ENST00000299022 human ensembl 70_37 +1 known missense c.1077 p.Q359H 0.942 pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase_hep,prints_Lipase,prints_Lipo_Lipase - no_errors LIPC HGNC LLGL1 3996 genome.wustl.edu 37 17 18138202 18138202 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 18138202 18138202 G A SNP LLGL1 ENST00000316843 human ensembl 70_37 +1 known missense c.955 p.D319N 0.999 pfam_LLGL2,superfamily_WD40_repeat_dom,prints_Lethal2_giant pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant - no_errors LLGL1 HGNC LMTK2 22853 genome.wustl.edu 37 7 97821308 97821308 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 97821308 97821308 G C SNP LMTK2 ENST00000297293 human ensembl 70_37 +1 known missense c.1531 p.E511Q 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK2 HGNC LMTK3 114783 genome.wustl.edu 37 19 49013817 49013817 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 49013817 49013817 G A SNP LMTK3 ENST00000270238 human ensembl 70_37 -1 known missense c.196 p.P66S 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK3 HGNC LNPEP 4012 genome.wustl.edu 37 5 96350789 96350789 + Nonsense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 96350789 96350789 C G SNP LNPEP ENST00000231368 human ensembl 70_37 +1 known nonsense c.2366 p.S789* 0.657 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors LNPEP HGNC LOC100128131 100128131 genome.wustl.edu 37 2 105484677 105484677 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 105484677 105484677 G A SNP LOC100128131 ENST00000433433 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC018730.3 Clone_based_vega_gene LOC100128252 100128252 genome.wustl.edu 37 19 57006562 57006562 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 57006562 57006562 G C SNP LOC100128252 ENST00000299997 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors AC004696.2 Clone_based_vega_gene LOC100288332 100288332 genome.wustl.edu 37 16 18470621 18470621 + RNA SNP A A G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 18470621 18470621 A G SNP LOC100288332 ENST00000546267 human ensembl 70_37 -1 known rna NULL NULL 0.618 - - - no_errors PKD1P1 Uniprot_genename LOC100507377 100507377 genome.wustl.edu 37 12 74544827 74544827 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 74544827 74544827 C G SNP LOC100507377 ENST00000549905 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-81H3.2 Clone_based_vega_gene LOC100996554 100996554 genome.wustl.edu 37 1 243260889 243260889 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 243260889 243260889 C G SNP LOC100996554 ENST00000411733 human ensembl 70_37 -1 known rna NULL NULL 0.094 - - - no_errors RP11-261C10.3 Clone_based_vega_gene LOC201651 201651 genome.wustl.edu 37 3 151501814 151501814 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 151501814 151501814 C T SNP LOC201651 ENST00000463420 human ensembl 70_37 +1 known rna NULL NULL 0.291 - - - no_errors RP11-64D22.2 Clone_based_vega_gene LOC285556 285556 genome.wustl.edu 37 4 100573715 100573715 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 100573715 100573715 C T SNP LOC285556 ENST00000511828 human ensembl 70_37 -1 putative silent c.2091 p.G697 0.432 NULL NULL - no_errors RP11-766F14.2 Clone_based_vega_gene LOC619207 619207 genome.wustl.edu 37 10 135272652 135272652 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 135272652 135272652 C G SNP LOC619207 ENST00000333815 human ensembl 70_37 +1 putative silent c.1107 p.L369 0.865 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_errors RP11-108K14.4 Clone_based_vega_gene LOC642799 642799 genome.wustl.edu 37 16 14859185 14859185 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 14859185 14859185 C T SNP LOC642799 ENST00000529166 human ensembl 70_37 +1 novel missense c.1025 p.S342L 0.080 pfam_NPIP pfam_NPIP - no_errors RP11-719K4.2 Clone_based_vega_gene LOC645513 645513 genome.wustl.edu 37 4 120415655 120415655 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 120415655 120415655 C G SNP LOC645513 ENST00000498873 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-33B1.1 Clone_based_vega_gene LOC728537 728537 genome.wustl.edu 37 2 98317652 98317652 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 98317652 98317652 C T SNP LOC728537 ENST00000451384 human ensembl 70_37 +1 known rna NULL NULL 0.006 - - - no_errors AC017099.3 Clone_based_vega_gene LONRF2 164832 genome.wustl.edu 37 2 100915746 100915746 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 100915746 100915746 C T SNP LONRF2 ENST00000393437 human ensembl 70_37 -1 known missense c.1303 p.E435K 0.000 NULL pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_Znf_RING,smart_TPR_repeat,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors LONRF2 HGNC LPHN3 23284 genome.wustl.edu 37 4 62452984 62452984 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 62452984 62452984 G C SNP LPHN3 ENST00000507625 human ensembl 70_37 +1 known missense c.299 p.R100T 1.000 NULL pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN3 HGNC LPHN3 23284 genome.wustl.edu 37 4 62812737 62812737 + Missense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 62812737 62812737 C A SNP LPHN3 ENST00000507625 human ensembl 70_37 +1 known missense c.2525 p.S842Y 1.000 pfam_DUF3497 pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN3 HGNC LPIN2 9663 genome.wustl.edu 37 18 2928604 2928604 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 18 2928604 2928604 C T SNP LPIN2 ENST00000261596 human ensembl 70_37 -1 known silent c.1605 p.Q535 1.000 NULL pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2 - no_errors LPIN2 HGNC LRBA 987 genome.wustl.edu 37 4 151829834 151829834 + Nonsense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 151829834 151829834 G T SNP LRBA ENST00000357115 human ensembl 70_37 -1 known nonsense c.1337 p.S446* 1.000 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom - no_errors LRBA HGNC LRBA 987 genome.wustl.edu 37 4 151829838 151829838 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 151829838 151829838 G A SNP LRBA ENST00000357115 human ensembl 70_37 -1 known missense c.1333 p.H445Y 1.000 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom - no_errors LRBA HGNC LRCH1 23143 genome.wustl.edu 37 13 47243273 47243273 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 47243273 47243273 C T SNP LRCH1 ENST00000389798 human ensembl 70_37 +1 known silent c.561 p.L187 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH1 HGNC LRFN5 145581 genome.wustl.edu 37 14 42077499 42077499 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 42077499 42077499 C G SNP LRFN5 ENST00000555279 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors LRFN5 HGNC LRGUK 136332 genome.wustl.edu 37 7 133812377 133812377 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 133812377 133812377 G A SNP LRGUK ENST00000285928 human ensembl 70_37 +1 known missense c.257 p.G86E 0.000 NULL pfam_Guanylate_kin,pfam_Leu-rich_rpt,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin - no_errors LRGUK HGNC LRP1B 53353 genome.wustl.edu 37 2 141093358 141093358 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 141093358 141093358 C T SNP LRP1B ENST00000389484 human ensembl 70_37 -1 known missense c.11942 p.G3981E 1.000 superfamily_Growth_fac_rcpt,smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1B HGNC LRP2 4036 genome.wustl.edu 37 2 170022556 170022556 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 170022556 170022556 G A SNP LRP2 ENST00000263816 human ensembl 70_37 -1 known missense c.11644 p.P3882S 0.506 superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP2 HGNC LRP2 4036 genome.wustl.edu 37 2 170029697 170029697 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 170029697 170029697 G A SNP LRP2 ENST00000263816 human ensembl 70_37 -1 known silent c.11052 p.F3684 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP2 HGNC LRRC29 26231 genome.wustl.edu 37 16 67242232 67242232 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 67242232 67242232 C T SNP LRRC29 ENST00000341546 human ensembl 70_37 -1 known missense c.268 p.D90N 0.998 smart_Leu-rich_rpt_Cys-con_subtyp smart_Leu-rich_rpt_Cys-con_subtyp - no_errors LRRC29 HGNC LRRC37A 9884 genome.wustl.edu 37 17 44380067 44380067 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 44380067 44380067 C T SNP LRRC37A ENST00000320254 human ensembl 70_37 +1 known silent c.2745 p.L915 0.715 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A HGNC LRRC40 55631 genome.wustl.edu 37 1 70652990 70652990 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 70652990 70652990 G A SNP LRRC40 ENST00000370952 human ensembl 70_37 -1 known missense c.365 p.S122F 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC40 HGNC LRRC42 115353 genome.wustl.edu 37 1 54428065 54428065 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 54428065 54428065 G A SNP LRRC42 ENST00000319223 human ensembl 70_37 +1 known missense c.910 p.E304K 1.000 NULL NULL - no_errors LRRC42 HGNC LRRC8A 56262 genome.wustl.edu 37 9 131670871 131670871 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 131670871 131670871 C G SNP LRRC8A ENST00000259324 human ensembl 70_37 +1 known silent c.1428 p.L476 1.000 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8A HGNC LRRK1 79705 genome.wustl.edu 37 15 101589932 101589932 + Nonsense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 101589932 101589932 C G SNP LRRK1 ENST00000388948 human ensembl 70_37 +1 known nonsense c.3383 p.S1128* 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom - no_errors LRRK1 HGNC LRRK2 120892 genome.wustl.edu 37 12 40758834 40758834 + Missense_Mutation SNP A A G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 40758834 40758834 A G SNP LRRK2 ENST00000298910 human ensembl 70_37 +1 known missense c.7372 p.M2458V 1.000 superfamily_WD40_repeat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC LRRN2 10446 genome.wustl.edu 37 1 204588748 204588748 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 204588748 204588748 C G SNP LRRN2 ENST00000367175 human ensembl 70_37 -1 known missense c.373 p.E125Q 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRRN2 HGNC LRRN4 164312 genome.wustl.edu 37 20 6031429 6031429 + Nonsense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 6031429 6031429 G A SNP LRRN4 ENST00000378858 human ensembl 70_37 -1 known nonsense c.856 p.Q286* 0.963 smart_Leu-rich_rpt_typical-subtyp pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LRRN4 HGNC LSP1 4046 genome.wustl.edu 37 11 1887970 1887970 + Nonsense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 1887970 1887970 C G SNP LSP1 ENST00000381775 human ensembl 70_37 +1 putative nonsense c.266 p.S89* 0.001 NULL pfam_Caldesmon_LSP,prints_Lymphspecific - no_errors LSP1 HGNC LTA 4049 genome.wustl.edu 37 6 31540806 31540806 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 31540806 31540806 C T SNP LTA ENST00000418386 human ensembl 70_37 +1 known silent c.201 p.L67 0.970 superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF,prints_TNF_a/b/c pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF,prints_TNF_beta,prints_TNF_a/b/c - no_errors LTA HGNC LTBR 4055 genome.wustl.edu 37 12 6497463 6497463 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 6497463 6497463 C G SNP LTBR ENST00000541005 human ensembl 70_37 +1 known rna NULL NULL 0.013 - - - no_errors LTBR HGNC LTN1 26046 genome.wustl.edu 37 21 30316810 30316810 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 21 30316810 30316810 G C SNP LTN1 ENST00000361371 human ensembl 70_37 -1 known missense c.3877 p.L1293V 0.067 NULL pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors LTN1 HGNC LUZP1 7798 genome.wustl.edu 37 1 23418235 23418235 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 23418235 23418235 G A SNP LUZP1 ENST00000302291 human ensembl 70_37 -1 known silent c.2520 p.S840 0.019 NULL NULL - no_errors LUZP1 HGNC LY6G6F 259215 genome.wustl.edu 37 6 31675808 31675808 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 31675808 31675808 C T SNP LY6G6F ENST00000556581 human ensembl 70_37 +1 known silent c.543 p.L181 1.000 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors LY6G6F HGNC LY6K 54742 genome.wustl.edu 37 8 143783124 143783124 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 143783124 143783124 G A SNP LY6K ENST00000561179 human ensembl 70_37 +1 known silent c.384 p.A128 0.000 NULL NULL - no_errors LY6K HGNC LY75 4065 genome.wustl.edu 37 2 160755557 160755557 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 160755557 160755557 G A SNP LY75 ENST00000554112 human ensembl 70_37 -1 known silent c.108 p.F36 1.000 superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors LY75 HGNC LY9 4063 genome.wustl.edu 37 1 160766081 160766081 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 160766081 160766081 C G SNP LY9 ENST00000263285 human ensembl 70_37 +1 known missense c.104 p.S35C 0.055 NULL smart_Ig_sub,pfscan_Ig-like - no_errors LY9 HGNC MACF1 23499 genome.wustl.edu 37 1 39853296 39853296 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 39853296 39853296 G C SNP MACF1 ENST00000317713 human ensembl 70_37 +1 known missense c.8596 p.E2866Q 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors MACF1 HGNC MADD 8567 genome.wustl.edu 37 11 47317492 47317492 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 47317492 47317492 G C SNP MADD ENST00000311027 human ensembl 70_37 +1 known missense c.3645 p.L1215F 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors MADD HGNC MADD 8567 genome.wustl.edu 37 11 47333367 47333367 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 47333367 47333367 G C SNP MADD ENST00000311027 human ensembl 70_37 +1 known missense c.4243 p.E1415Q 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors MADD HGNC MAEL 84944 genome.wustl.edu 37 1 166959038 166959038 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 166959038 166959038 G A SNP MAEL ENST00000367872 human ensembl 70_37 +1 known missense c.197 p.G66E 1.000 pfam_HMG_superfamily pfam_HMG_superfamily,superfamily_HMG_superfamily,superfamily_CH-domain - no_errors MAEL HGNC MAF1 84232 genome.wustl.edu 37 8 145160643 145160643 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 145160643 145160643 G A SNP MAF1 ENST00000322428 human ensembl 70_37 +1 known silent c.57 p.E19 1.000 pirsf_RNA_pol_III_tscrpt_repres_MAF1 pfam_Maf1,pirsf_RNA_pol_III_tscrpt_repres_MAF1 - no_errors MAF1 HGNC MAF1 84232 genome.wustl.edu 37 8 145160803 145160803 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 145160803 145160803 G A SNP MAF1 ENST00000322428 human ensembl 70_37 +1 known missense c.115 p.D39N 0.914 pfam_Maf1,pirsf_RNA_pol_III_tscrpt_repres_MAF1 pfam_Maf1,pirsf_RNA_pol_III_tscrpt_repres_MAF1 - no_errors MAF1 HGNC MAGEB16 139604 genome.wustl.edu 37 X 35821128 35821128 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 35821128 35821128 G A SNP MAGEB16 ENST00000399992 human ensembl 70_37 +1 known missense c.911 p.R304Q 0.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB16 HGNC MAGED1 9500 genome.wustl.edu 37 X 51640996 51640996 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 51640996 51640996 G C SNP MAGED1 ENST00000485420 human ensembl 70_37 +1 known rna NULL NULL 0.813 - - - no_errors MAGED1 HGNC MAGEE1 57692 genome.wustl.edu 37 X 75649466 75649466 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 75649466 75649466 G A SNP MAGEE1 ENST00000361470 human ensembl 70_37 +1 known silent c.1143 p.P381 0.001 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEE1 HGNC MAGIX 79917 genome.wustl.edu 37 X 49022575 49022575 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 49022575 49022575 C T SNP MAGIX ENST00000412696 human ensembl 70_37 +1 known missense c.842 p.T281M 0.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors MAGIX HGNC MAGOH 4116 genome.wustl.edu 37 1 53694605 53694605 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 53694605 53694605 C T SNP MAGOH ENST00000371470 human ensembl 70_37 -1 known missense c.280 p.D94N 1.000 pfam_Mago_nashi,superfamily_Mago_nashi pfam_Mago_nashi,superfamily_Mago_nashi - no_errors MAGOH HGNC MAK 4117 genome.wustl.edu 37 6 10763241 10763241 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 10763241 10763241 C G SNP MAK ENST00000474039 human ensembl 70_37 -1 known rna NULL NULL 0.015 - - - no_errors MAK HGNC MAN1A1 4121 genome.wustl.edu 37 6 119525929 119525929 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 119525929 119525929 C T SNP MAN1A1 ENST00000368468 human ensembl 70_37 -1 known missense c.1111 p.E371K 0.998 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1A1 HGNC MAN2B1 4125 genome.wustl.edu 37 19 12758139 12758139 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 12758139 12758139 G C SNP MAN2B1 ENST00000456935 human ensembl 70_37 -1 known missense c.2831 p.S944C 0.998 pfam_Glyco_hydro_38_C,superfamily_Glyco_hydro-type_carb-bd pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2B1 HGNC MAN2B1 4125 genome.wustl.edu 37 19 12766654 12766654 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 12766654 12766654 G A SNP MAN2B1 ENST00000456935 human ensembl 70_37 -1 known missense c.1684 p.P562S 0.012 pfam_Glyco_hydro_38_C,superfamily_Glyco_hydro-type_carb-bd pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2B1 HGNC MAN2B2 23324 genome.wustl.edu 37 4 6611729 6611729 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 6611729 6611729 G C SNP MAN2B2 ENST00000285599 human ensembl 70_37 +1 known missense c.2211 p.Q737H 1.000 pfam_Glyco_hydro_38_C,superfamily_Glyco_hydro-type_carb-bd pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2B2 HGNC MAOB 4129 genome.wustl.edu 37 X 43698186 43698186 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 43698186 43698186 C G SNP MAOB ENST00000378069 human ensembl 70_37 -1 known missense c.207 p.L69F 0.995 pfam_Amino_oxidase pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase - no_errors MAOB HGNC MAP1B 4131 genome.wustl.edu 37 5 71411577 71411577 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 71411577 71411577 C G SNP MAP1B ENST00000296755 human ensembl 70_37 +1 known silent c.237 p.L79 1.000 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC MAP4K5 11183 genome.wustl.edu 37 14 50892637 50892637 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 50892637 50892637 G C SNP MAP4K5 ENST00000013125 human ensembl 70_37 -1 known missense c.2385 p.F795L 1.000 pfam_Citron,smart_Citron pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors MAP4K5 HGNC MAPK1IP1L 93487 genome.wustl.edu 37 14 55518385 55518385 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 55518385 55518385 G C SNP MAPK1IP1L ENST00000554364 human ensembl 70_37 +1 putative rna NULL NULL 1.000 - - - no_errors MAPK1IP1L HGNC MARCH6 10299 genome.wustl.edu 37 5 10377945 10377945 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 10377945 10377945 G C SNP MARCH6 ENST00000274140 human ensembl 70_37 +1 known missense c.55 p.E19Q 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH6 HGNC MARK1 4139 genome.wustl.edu 37 1 220804457 220804457 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 220804457 220804457 C T SNP MARK1 ENST00000366917 human ensembl 70_37 +1 known silent c.990 p.F330 1.000 pfscan_UBA/transl_elong_EF1B_N_euk pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase-assoc_KA1,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MARK1 HGNC MATN3 4148 genome.wustl.edu 37 2 20205975 20205975 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 20205975 20205975 G C SNP MATN3 ENST00000407540 human ensembl 70_37 -1 known missense c.320 p.S107C 0.498 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Matrilin_coiled-coil_trimer,pfam_EGF-like_Ca-bd,smart_VWF_A,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_A - no_errors MATN3 HGNC MB21D1 115004 genome.wustl.edu 37 6 74135179 74135179 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 74135179 74135179 G A SNP MB21D1 ENST00000370315 human ensembl 70_37 -1 known missense c.1340 p.T447I 0.018 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MB21D1 HGNC MB21D1 115004 genome.wustl.edu 37 6 74161536 74161536 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 74161536 74161536 C T SNP MB21D1 ENST00000370315 human ensembl 70_37 -1 known silent c.369 p.Q123 0.000 NULL pfam_Mab-21_dom - no_errors MB21D1 HGNC MCF2L 23263 genome.wustl.edu 37 13 113742717 113742717 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 113742717 113742717 G C SNP MCF2L ENST00000375604 human ensembl 70_37 +1 known missense c.2936 p.R979T 0.998 NULL pfam_DH-domain,pfam_Spectrin_repeat,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors MCF2L HGNC MCOLN2 255231 genome.wustl.edu 37 1 85462586 85462586 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 85462586 85462586 C T SNP MCOLN2 ENST00000531325 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors MCOLN2 HGNC MDC1 9656 genome.wustl.edu 37 6 30681692 30681692 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 30681692 30681692 G C SNP MDC1 ENST00000376406 human ensembl 70_37 -1 known silent c.405 p.V135 0.000 superfamily_SMAD_FHA_domain pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom - no_errors MDC1 HGNC MDM1 56890 genome.wustl.edu 37 12 68716864 68716864 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 68716864 68716864 G A SNP MDM1 ENST00000303145 human ensembl 70_37 -1 known missense c.790 p.P264S 0.993 NULL NULL - no_errors MDM1 HGNC MDN1 23195 genome.wustl.edu 37 6 90424429 90424429 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 90424429 90424429 C T SNP MDN1 ENST00000369393 human ensembl 70_37 -1 known missense c.6902 p.R2301Q 1.000 smart_AAA+_ATPase,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC MED12 9968 genome.wustl.edu 37 X 70346188 70346188 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 70346188 70346188 C G SNP MED12 ENST00000471663 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MED12 HGNC MED17 9440 genome.wustl.edu 37 11 93529609 93529609 + Nonsense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 93529609 93529609 C G SNP MED17 ENST00000251871 human ensembl 70_37 +1 known nonsense c.1046 p.S349* 1.000 pfam_Mediator_Med17 pfam_Mediator_Med17 - no_errors MED17 HGNC MED22 6837 genome.wustl.edu 37 9 136212068 136212068 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 136212068 136212068 C T SNP MED22 ENST00000343730 human ensembl 70_37 -1 known missense c.163 p.E55K 0.997 pfam_Mediator_Med22 pfam_Mediator_Med22 - no_errors MED22 HGNC MED23 9439 genome.wustl.edu 37 6 131923425 131923425 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 131923425 131923425 G A SNP MED23 ENST00000368058 human ensembl 70_37 -1 known silent c.2046 p.L682 0.989 pfam_Mediator_Med23 pfam_Mediator_Med23 - no_errors MED23 HGNC MED25 81857 genome.wustl.edu 37 19 50339101 50339101 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 50339101 50339101 C T SNP MED25 ENST00000312865 human ensembl 70_37 +1 known missense c.1864 p.P622S 1.000 NULL pfam_Mediator_Med25_VWA,pfam_Mediator_Med25,pfam_Mediator_Med25_SD1,pfam_Mediator_Med25_NR-box - no_errors MED25 HGNC MEX3A 92312 genome.wustl.edu 37 1 156047250 156047250 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 156047250 156047250 G A SNP MEX3A ENST00000532414 human ensembl 70_37 -1 known silent c.678 p.I226 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3A HGNC MFAP3 4238 genome.wustl.edu 37 5 153432736 153432736 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 153432736 153432736 C G SNP MFAP3 ENST00000322602 human ensembl 70_37 +1 known missense c.552 p.I184M 1.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MFAP3 HGNC MFAP3 4238 genome.wustl.edu 37 5 153433097 153433097 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 153433097 153433097 C G SNP MFAP3 ENST00000322602 human ensembl 70_37 +1 known missense c.913 p.L305V 0.996 NULL pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MFAP3 HGNC MFNG 4242 genome.wustl.edu 37 22 37870703 37870703 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 37870703 37870703 G C SNP MFNG ENST00000356998 human ensembl 70_37 -1 known missense c.660 p.F220L 0.993 pfam_Fringe-like,pirsf_Fringe pfam_Fringe-like,pirsf_Fringe - no_errors MFNG HGNC MGAT4C 25834 genome.wustl.edu 37 12 86373920 86373920 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 86373920 86373920 C G SNP MGAT4C ENST00000393205 human ensembl 70_37 -1 known missense c.671 p.R224T 0.685 pfam_Glyco_transf_54 pfam_Glyco_transf_54,superfamily_LSM_dom - no_errors MGAT4C HGNC MIB1 57534 genome.wustl.edu 37 18 19359615 19359615 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 18 19359615 19359615 G A SNP MIB1 ENST00000261537 human ensembl 70_37 +1 known missense c.877 p.D293N 1.000 NULL pfam_Ankyrin_rpt,pfam_Mib_Herc2,pfam_Znf_ZZ,superfamily_Ankyrin_rpt-contain_dom,smart_Znf_ZZ,smart_Ankyrin_rpt,smart_Znf_RING,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_RING,pfscan_Znf_ZZ,prints_Ankyrin_rpt - no_errors MIB1 HGNC MICAL3 57553 genome.wustl.edu 37 22 18273683 18273683 + Splice_Site SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 18273683 18273683 C G SNP MICAL3 ENST00000441493 human ensembl 70_37 -1 known splice_site c.5825-1 e31-1 1.000 - - - no_errors MICAL3 HGNC MID2 11043 genome.wustl.edu 37 X 107148838 107148839 + Frame_Shift_Ins INS - - A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 107148838 107148839 - A INS MID2 ENST00000262843 human ensembl 70_37 +1 known frame_shift_ins c.1055_1056 p.N354fs 1.000:1.000 smart_Bbox_C pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors MID2 HGNC MIEN1 84299 genome.wustl.edu 37 17 37886509 37886509 + Missense_Mutation SNP A A G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 37886509 37886509 A G SNP MIEN1 ENST00000394231 human ensembl 70_37 -1 known missense c.125 p.L42P 1.000 pfam_Selenoprotein_Rdx-typ,superfamily_Thioredoxin-like_fold,tigrfam_Selenoprotein_Rdx-typ pfam_Selenoprotein_Rdx-typ,superfamily_Thioredoxin-like_fold,tigrfam_Selenoprotein_Rdx-typ - no_errors MIEN1 HGNC MINOS1 440574 genome.wustl.edu 37 1 19952930 19952930 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 19952930 19952930 G C SNP MINOS1 ENST00000467029 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MINOS1 HGNC MIR124-3 406909 genome.wustl.edu 37 20 61809853 61809853 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 61809853 61809853 G C SNP MIR124-3 ENST00000384866 human ensembl 70_37 +1 known rna NULL NULL 0.986 - - - no_errors MIR124-3 HGNC MIR516A2 574499 genome.wustl.edu 37 19 54264452 54264452 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 54264452 54264452 C T SNP MIR516A2 ENST00000384888 human ensembl 70_37 +1 known rna NULL NULL 0.015 - - - no_errors MIR516A2 HGNC MKNK2 2872 genome.wustl.edu 37 19 2041044 2041044 + Nonsense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 2041044 2041044 G A SNP MKNK2 ENST00000250896 human ensembl 70_37 -1 known nonsense c.1105 p.Q369* 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MKNK2 HGNC MKS1 54903 genome.wustl.edu 37 17 56283702 56283702 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 56283702 56283702 C G SNP MKS1 ENST00000313863 human ensembl 70_37 -1 putative missense c.1313 p.G438A 1.000 NULL pfam_B9_dom - no_errors MKS1 HGNC KMT2D 8085 genome.wustl.edu 37 12 49431395 49431395 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 49431395 49431395 G C SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known silent c.9744 p.L3248 0.994 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC KMT2C 58508 genome.wustl.edu 37 7 151945301 151945301 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 151945301 151945301 C T SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known missense c.2218 p.E740K 0.630 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC MLLT3 4300 genome.wustl.edu 37 9 20622291 20622291 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 20622291 20622291 G A SNP MLLT3 ENST00000475957 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors MLLT3 HGNC MLXIP 22877 genome.wustl.edu 37 12 122618098 122618098 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 122618098 122618098 C T SNP MLXIP ENST00000319080 human ensembl 70_37 +1 known silent c.1296 p.F432 0.888 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors MLXIP HGNC MMP1 4312 genome.wustl.edu 37 11 102667487 102667487 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 102667487 102667487 C G SNP MMP1 ENST00000315274 human ensembl 70_37 -1 known missense c.533 p.G178A 0.000 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP1 HGNC MMP13 4322 genome.wustl.edu 37 11 102819836 102819836 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 102819836 102819836 C T SNP MMP13 ENST00000340273 human ensembl 70_37 -1 novel silent c.969 p.T323 0.997 pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP13 HGNC MMP19 4327 genome.wustl.edu 37 12 56231076 56231076 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 56231076 56231076 C G SNP MMP19 ENST00000322569 human ensembl 70_37 -1 known missense c.1271 p.G424A 1.000 pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP19 HGNC MMP27 64066 genome.wustl.edu 37 11 102567510 102567510 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 102567510 102567510 G C SNP MMP27 ENST00000260229 human ensembl 70_37 -1 known missense c.676 p.H226D 1.000 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP27 HGNC MORC3 23515 genome.wustl.edu 37 21 37747582 37747582 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 21 37747582 37747582 C T SNP MORC3 ENST00000400485 human ensembl 70_37 +1 known silent c.2808 p.I936 1.000 NULL pfam_Znf_CW,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW - no_errors MORC3 HGNC MORN3 283385 genome.wustl.edu 37 12 122091038 122091038 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 122091038 122091038 C T SNP MORN3 ENST00000355329 human ensembl 70_37 -1 known silent c.591 p.T197 0.658 NULL pfam_MORN,smart_MORN - no_errors MORN3 HGNC MOV10L1 54456 genome.wustl.edu 37 22 50547268 50547268 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 50547268 50547268 G C SNP MOV10L1 ENST00000262794 human ensembl 70_37 +1 known missense c.738 p.K246N 0.000 NULL superfamily_NA-bd_OB-fold-like - no_errors MOV10L1 HGNC MPP5 64398 genome.wustl.edu 37 14 67787084 67787084 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 67787084 67787084 G C SNP MPP5 ENST00000261681 human ensembl 70_37 +1 known missense c.1507 p.E503Q 1.000 pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin pfam_Guanylate_kin,pfam_L27_N,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,pfam_L27_C,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors MPP5 HGNC MPPE1 65258 genome.wustl.edu 37 18 11889405 11889405 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 18 11889405 11889405 C G SNP MPPE1 ENST00000588072 human ensembl 70_37 -1 known missense c.475 p.D159H 1.000 pfam_Metallo_PEstase_dom pfam_Metallo_PEstase_dom - no_errors MPPE1 HGNC MS4A14 84689 genome.wustl.edu 37 11 60183174 60183174 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 60183174 60183174 G A SNP MS4A14 ENST00000300187 human ensembl 70_37 +1 known missense c.733 p.E245K 0.001 NULL pfam_CD20-like - no_errors MS4A14 HGNC MST4 51765 genome.wustl.edu 37 X 131207060 131207060 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 131207060 131207060 G A SNP MST4 ENST00000394334 human ensembl 70_37 +1 known missense c.1165 p.E389K 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MST4 Uniprot_genename MTSS1L 92154 genome.wustl.edu 37 16 70697963 70697963 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 70697963 70697963 C T SNP MTSS1L ENST00000338779 human ensembl 70_37 -1 known missense c.1861 p.E621K 1.000 NULL pfam_IRSp53/MIM_homology_IMD - no_errors MTSS1L HGNC MUC12 10071 genome.wustl.edu 37 7 100644356 100644356 + Silent SNP A A T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 100644356 100644356 A T SNP MUC12 ENST00000379442 human ensembl 70_37 +1 known silent c.10941 p.T3647 0.003 NULL pfam_SEA - no_errors MUC12 HGNC MUC3A 4584 genome.wustl.edu 37 7 100547242 100547242 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 100547242 100547242 C G SNP MUC3A ENST00000483366 human ensembl 70_37 +1 known rna NULL NULL 0.014 - - - no_errors MUC3A HGNC MUC4 4585 genome.wustl.edu 37 3 195509644 195509644 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 195509644 195509644 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.8807 p.S2936L 0.211 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC MUC4 4585 genome.wustl.edu 37 3 195510782 195510782 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 195510782 195510782 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.7669 p.H2557Y 0.004 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC MUC4 4585 genome.wustl.edu 37 3 195510796 195510796 + Nonsense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 195510796 195510796 G T SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known nonsense c.7655 p.S2552* 0.016 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC MUC4 4585 genome.wustl.edu 37 3 195511010 195511010 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 195511010 195511010 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.7441 p.L2481F 0.040 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC MUC4 4585 genome.wustl.edu 37 3 195511375 195511375 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 195511375 195511375 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.7076 p.S2359F 0.468 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC MUC4 4585 genome.wustl.edu 37 3 195511420 195511420 + Nonsense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 195511420 195511420 G C SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known nonsense c.7031 p.S2344* 0.541 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC MUC4 4585 genome.wustl.edu 37 3 195512126 195512126 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 195512126 195512126 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.6325 p.H2109Y 0.248 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC MUC4 4585 genome.wustl.edu 37 3 195512719 195512719 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 195512719 195512719 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.5732 p.S1911F 0.352 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC MUC4 4585 genome.wustl.edu 37 3 195516941 195516941 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 195516941 195516941 C G SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.1510 p.E504Q 0.001 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC MUC4 4585 genome.wustl.edu 37 3 195517883 195517883 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 195517883 195517883 C G SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.568 p.D190H 0.000 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC MUM1 84939 genome.wustl.edu 37 19 1364566 1364566 + Missense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 1364566 1364566 C A SNP MUM1 ENST00000344663 human ensembl 70_37 +1 known missense c.1275 p.F425L 1.000 pfam_PWWP pfam_PWWP - no_errors MUM1 HGNC MYBL2 4605 genome.wustl.edu 37 20 42320836 42320836 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 42320836 42320836 C G SNP MYBL2 ENST00000217026 human ensembl 70_37 +1 known missense c.540 p.I180M 1.000 superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom pfam_C-myb_C,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYBL2 HGNC MYCBP2 23077 genome.wustl.edu 37 13 77633672 77633672 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 77633672 77633672 C G SNP MYCBP2 ENST00000407578 human ensembl 70_37 -1 known missense c.13126 p.D4376H 1.000 NULL pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC MYCBP2 23077 genome.wustl.edu 37 13 77754359 77754359 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 77754359 77754359 C T SNP MYCBP2 ENST00000407578 human ensembl 70_37 -1 known missense c.5036 p.R1679K 1.000 superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC MYCBP2 23077 genome.wustl.edu 37 13 77754364 77754364 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 77754364 77754364 C T SNP MYCBP2 ENST00000407578 human ensembl 70_37 -1 known silent c.5031 p.L1677 0.971 superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC MYH14 79784 genome.wustl.edu 37 19 50781447 50781447 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 50781447 50781447 G A SNP MYH14 ENST00000262269 human ensembl 70_37 +1 known silent c.3933 p.R1311 0.966 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH14 HGNC MYH3 4621 genome.wustl.edu 37 17 10542717 10542717 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 10542717 10542717 G C SNP MYH3 ENST00000226209 human ensembl 70_37 -1 known silent c.3000 p.L1000 0.976 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC MYH7 4625 genome.wustl.edu 37 14 23884243 23884243 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 23884243 23884243 C G SNP MYH7 ENST00000355349 human ensembl 70_37 -1 known missense c.5520 p.M1840I 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC MYH9 4627 genome.wustl.edu 37 22 36705359 36705359 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 36705359 36705359 G A SNP MYH9 ENST00000216181 human ensembl 70_37 -1 known missense c.1811 p.S604F 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC MYL12A 10627 genome.wustl.edu 37 18 3253901 3253901 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 18 3253901 3253901 G A SNP MYL12A ENST00000217652 human ensembl 70_37 +1 known missense c.196 p.D66N 1.000 NULL pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors MYL12A HGNC MYL6B 140465 genome.wustl.edu 37 12 56549364 56549364 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 56549364 56549364 C G SNP MYL6B ENST00000207437 human ensembl 70_37 +1 known missense c.508 p.L170V 1.000 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors MYL6B HGNC MYO10 4651 genome.wustl.edu 37 5 16761604 16761604 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 16761604 16761604 C T SNP MYO10 ENST00000513610 human ensembl 70_37 -1 known missense c.1708 p.D570N 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC MYO16 23026 genome.wustl.edu 37 13 109772765 109772765 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 109772765 109772765 C G SNP MYO16 ENST00000356711 human ensembl 70_37 +1 known silent c.3420 p.L1140 0.807 smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC MYO1C 4641 genome.wustl.edu 37 17 1377928 1377928 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 1377928 1377928 G A SNP MYO1C ENST00000359786 human ensembl 70_37 -1 known silent c.1773 p.L591 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1C HGNC MYO1E 4643 genome.wustl.edu 37 15 59553683 59553683 + Nonsense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 59553683 59553683 G C SNP MYO1E ENST00000288235 human ensembl 70_37 -1 known nonsense c.173 p.S58* 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain - no_errors MYO1E HGNC MYO9A 4649 genome.wustl.edu 37 15 72142438 72142438 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 72142438 72142438 G C SNP MYO9A ENST00000424560 human ensembl 70_37 -1 known missense c.6865 p.L2289V 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9A HGNC MYO9A 4649 genome.wustl.edu 37 15 72311419 72311419 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 72311419 72311419 G C SNP MYO9A ENST00000424560 human ensembl 70_37 -1 known silent c.1116 p.L372 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9A HGNC MYRIP 25924 genome.wustl.edu 37 3 40286041 40286041 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 40286041 40286041 G A SNP MYRIP ENST00000302541 human ensembl 70_37 +1 known silent c.2205 p.A735 0.587 pfam_Myrip/Melanophilin pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain - no_errors MYRIP HGNC MYT1 4661 genome.wustl.edu 37 20 62854649 62854649 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 62854649 62854649 C T SNP MYT1 ENST00000536311 human ensembl 70_37 +1 known missense c.2546 p.S849F 1.000 pfam_Znf_C2HC pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1 HGNC MYT1L 23040 genome.wustl.edu 37 2 1820470 1820470 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 1820470 1820470 C T SNP MYT1L ENST00000471668 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MYT1L HGNC MZF1 7593 genome.wustl.edu 37 19 59074503 59074503 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 59074503 59074503 C T SNP MZF1 ENST00000215057 human ensembl 70_37 -1 known missense c.1141 p.E381K 0.984 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors MZF1 HGNC MZF1 7593 genome.wustl.edu 37 19 59082462 59082462 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 59082462 59082462 C G SNP MZF1 ENST00000215057 human ensembl 70_37 -1 known missense c.295 p.E99Q 0.613 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors MZF1 HGNC N4BP2 55728 genome.wustl.edu 37 4 40122816 40122816 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 40122816 40122816 G C SNP N4BP2 ENST00000261435 human ensembl 70_37 +1 known missense c.3085 p.E1029Q 1.000 NULL pfam_DUF1771,pfam_Smr/MutS2_C,superfamily_UBA-like,smart_Smr/MutS2_C,pfscan_CUE,pfscan_Smr/MutS2_C - no_errors N4BP2 HGNC NACA 4666 genome.wustl.edu 37 12 57114446 57114446 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 57114446 57114446 G C SNP NACA ENST00000454682 human ensembl 70_37 -1 known missense c.868 p.Q290E 0.109 NULL pfam_Nas_poly-pep-assoc_cplx,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx - no_errors NACA HGNC NADSYN1 55191 genome.wustl.edu 37 11 71174494 71174494 + Missense_Mutation SNP A A T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 71174494 71174494 A T SNP NADSYN1 ENST00000319023 human ensembl 70_37 +1 known missense c.280 p.N94Y 0.951 pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Gln-dep_NAD_synthase,pfscan_C-N_Hydrolase pfam_C-N_Hydrolase,pfam_NAD/GMP_synthase,superfamily_C-N_Hydrolase,pirsf_Gln-dep_NAD_synthase,pfscan_C-N_Hydrolase,tigrfam_NAD_synthase - no_errors NADSYN1 HGNC NAT10 55226 genome.wustl.edu 37 11 34156767 34156767 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 34156767 34156767 G A SNP NAT10 ENST00000257829 human ensembl 70_37 +1 known missense c.1957 p.E653K 0.997 superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_Helicase_dom,pfam_DUF1726,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAT10 HGNC NAT2 10 genome.wustl.edu 37 8 18258175 18258175 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 18258175 18258175 C T SNP NAT2 ENST00000286479 human ensembl 70_37 +1 known missense c.662 p.S221L 0.495 pfam_Arylamine_N-AcTrfase pfam_Arylamine_N-AcTrfase,prints_Arylamine_N-AcTrfase - no_errors NAT2 HGNC NAV1 89796 genome.wustl.edu 37 1 201750173 201750173 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 201750173 201750173 G A SNP NAV1 ENST00000367296 human ensembl 70_37 +1 known missense c.1399 p.E467K 1.000 NULL smart_AAA+_ATPase - no_errors NAV1 HGNC NAV1 89796 genome.wustl.edu 37 1 201752765 201752765 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 201752765 201752765 G C SNP NAV1 ENST00000367296 human ensembl 70_37 +1 known missense c.2589 p.M863I 0.995 NULL smart_AAA+_ATPase - no_errors NAV1 HGNC NAV1 89796 genome.wustl.edu 37 1 201752930 201752930 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 201752930 201752930 G C SNP NAV1 ENST00000367296 human ensembl 70_37 +1 known missense c.2754 p.E918D 0.039 NULL smart_AAA+_ATPase - no_errors NAV1 HGNC NAV1 89796 genome.wustl.edu 37 1 201789016 201789016 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 201789016 201789016 G A SNP NAV1 ENST00000367296 human ensembl 70_37 +1 known missense c.5590 p.D1864N 1.000 NULL smart_AAA+_ATPase - no_errors NAV1 HGNC NAV3 89795 genome.wustl.edu 37 12 78401166 78401166 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 78401166 78401166 C T SNP NAV3 ENST00000397909 human ensembl 70_37 +1 known silent c.1848 p.L616 0.990 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC NBEA 26960 genome.wustl.edu 37 13 35770151 35770151 + Missense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 35770151 35770151 C A SNP NBEA ENST00000310336 human ensembl 70_37 +1 known missense c.5078 p.T1693K 0.026 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC NCAPH2 29781 genome.wustl.edu 37 22 50959393 50959393 + Splice_Site SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 50959393 50959393 G C SNP NCAPH2 ENST00000299821 human ensembl 70_37 +1 known splice_site c.862-1 e10-1 0.993 - - - no_errors NCAPH2 HGNC NCAPH2 29781 genome.wustl.edu 37 22 50960969 50960969 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 50960969 50960969 G A SNP NCAPH2 ENST00000299821 human ensembl 70_37 +1 known missense c.1349 p.G450E 0.000 pfam_Condensin_II_H2-like pfam_Condensin_II_H2-like - no_errors NCAPH2 HGNC NCF4 4689 genome.wustl.edu 37 22 37273686 37273686 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 37273686 37273686 G C SNP NCF4 ENST00000248899 human ensembl 70_37 +1 known missense c.841 p.E281Q 0.361 pfam_OPR_PB1,smart_OPR_PB1 pfam_Phox,pfam_OPR_PB1,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,smart_OPR_PB1,pfscan_Phox,pfscan_SH3_domain,prints_NCF_P40,prints_p67phox - no_errors NCF4 HGNC NCKIPSD 51517 genome.wustl.edu 37 3 48701492 48701492 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 48701492 48701492 C T SNP NCKIPSD ENST00000341520 human ensembl 70_37 -1 known missense c.2041 p.E681K 0.005 NULL pfam_DUF2013,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NCKIPSD HGNC NCOA6 23054 genome.wustl.edu 37 20 33328287 33328287 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 33328287 33328287 C T SNP NCOA6 ENST00000359003 human ensembl 70_37 -1 known missense c.5773 p.E1925K 1.000 NULL NULL - no_errors NCOA6 HGNC NCOA6 23054 genome.wustl.edu 37 20 33337504 33337504 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 33337504 33337504 G A SNP NCOA6 ENST00000359003 human ensembl 70_37 -1 known missense c.2494 p.H832Y 1.000 NULL NULL - no_errors NCOA6 HGNC NDUFA1 4694 genome.wustl.edu 37 X 119007294 119007294 + Missense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 119007294 119007294 C A SNP NDUFA1 ENST00000371437 human ensembl 70_37 +1 known missense c.130 p.H44N 0.010 pirsf_NADH_Ub_cplx-1_asu_su-1 pirsf_NADH_Ub_cplx-1_asu_su-1 - no_errors NDUFA1 HGNC NEB 4703 genome.wustl.edu 37 2 152374864 152374864 + Missense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 152374864 152374864 G T SNP NEB ENST00000397345 human ensembl 70_37 -1 known missense c.22768 p.H7590N 1.000 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC NEB 4703 genome.wustl.edu 37 2 152473963 152473963 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 152473963 152473963 C G SNP NEB ENST00000397345 human ensembl 70_37 -1 known missense c.11096 p.W3699S 1.000 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC NEB 4703 genome.wustl.edu 37 2 152492755 152492755 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 152492755 152492755 C T SNP NEB ENST00000397345 human ensembl 70_37 -1 known missense c.9088 p.D3030N 1.000 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC NECAB1 64168 genome.wustl.edu 37 8 91813934 91813934 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 91813934 91813934 G C SNP NECAB1 ENST00000417640 human ensembl 70_37 +1 known missense c.115 p.D39H 1.000 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors NECAB1 HGNC NENF 29937 genome.wustl.edu 37 1 212617779 212617779 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 212617779 212617779 G A SNP NENF ENST00000366988 human ensembl 70_37 +1 known missense c.337 p.D113N 1.000 pfam_Cyt_B5,superfamily_Cyt_B5 pfam_Cyt_B5,superfamily_Cyt_B5 - no_errors NENF HGNC NEO1 4756 genome.wustl.edu 37 15 73409150 73409150 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 73409150 73409150 G A SNP NEO1 ENST00000261908 human ensembl 70_37 +1 known missense c.400 p.E134K 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors NEO1 HGNC NEURL 9148 genome.wustl.edu 37 10 105344981 105344981 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 105344981 105344981 C T SNP NEURL ENST00000369780 human ensembl 70_37 +1 known silent c.1338 p.L446 0.926 pfscan_Neu_Z pfam_Neu_Z,smart_Neu_Z,pfscan_Neu_Z,pfscan_Znf_RING - no_errors NEURL HGNC NF1 4763 genome.wustl.edu 37 17 29509567 29509567 + Nonsense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 29509567 29509567 G T SNP NF1 ENST00000358273 human ensembl 70_37 +1 known nonsense c.772 p.E258* 1.000 NULL pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC NF1 4763 genome.wustl.edu 37 17 29527570 29527570 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 29527570 29527570 C G SNP NF1 ENST00000358273 human ensembl 70_37 +1 known missense c.1019 p.S340C 1.000 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC NF1 4763 genome.wustl.edu 37 17 29546122 29546122 + Nonsense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 29546122 29546122 C T SNP NF1 ENST00000358273 human ensembl 70_37 +1 known nonsense c.1627 p.Q543* 1.000 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC NFIC 4782 genome.wustl.edu 37 19 3434306 3434306 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 3434306 3434306 C T SNP NFIC ENST00000443272 human ensembl 70_37 +1 known silent c.741 p.F247 1.000 pfam_CTF/NFI pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom - no_errors NFIC HGNC NGEF 25791 genome.wustl.edu 37 2 233748711 233748711 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 233748711 233748711 C T SNP NGEF ENST00000264051 human ensembl 70_37 -1 known silent c.1581 p.V527 0.867 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors NGEF HGNC NHSL1 57224 genome.wustl.edu 37 6 138754791 138754791 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 138754791 138754791 C T SNP NHSL1 ENST00000427025 human ensembl 70_37 -1 known missense c.703 p.D235N 0.009 NULL NULL - no_errors NHSL1 HGNC NIN 51199 genome.wustl.edu 37 14 51225146 51225146 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 51225146 51225146 C G SNP NIN ENST00000245441 human ensembl 70_37 -1 known missense c.2602 p.E868Q 1.000 NULL superfamily_tRNA-bd_arm,pfscan_EF_HAND_2 - no_errors NIN HGNC NIPAL1 152519 genome.wustl.edu 37 4 48036978 48036978 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 48036978 48036978 C T SNP NIPAL1 ENST00000295461 human ensembl 70_37 +1 known missense c.542 p.S181L 1.000 pfam_Mg_trans_NIPA,pfam_DMT pfam_Mg_trans_NIPA,pfam_DMT - no_errors NIPAL1 HGNC NIPBL 25836 genome.wustl.edu 37 5 36985324 36985324 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 36985324 36985324 C G SNP NIPBL ENST00000282516 human ensembl 70_37 +1 known missense c.2042 p.T681R 0.753 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC NIPBL 25836 genome.wustl.edu 37 5 37057354 37057354 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 37057354 37057354 G A SNP NIPBL ENST00000282516 human ensembl 70_37 +1 known missense c.7330 p.E2444K 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC NKPD1 284353 genome.wustl.edu 37 19 45655990 45655990 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 45655990 45655990 C T SNP NKPD1 ENST00000317951 human ensembl 70_37 -1 known missense c.1705 p.E569K 0.932 pfam_KAP_NTPase pfam_KAP_NTPase - no_errors NKPD1 HGNC NKTR 4820 genome.wustl.edu 37 3 42678943 42678943 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 42678943 42678943 G A SNP NKTR ENST00000232978 human ensembl 70_37 +1 known missense c.1747 p.E583K 0.997 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors NKTR HGNC NLRC5 84166 genome.wustl.edu 37 16 57070017 57070017 + Nonsense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 57070017 57070017 C A SNP NLRC5 ENST00000262510 human ensembl 70_37 +1 known nonsense c.2633 p.S878* 1.000 smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase - no_errors NLRC5 HGNC NLRP11 204801 genome.wustl.edu 37 19 56321256 56321256 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 56321256 56321256 G A SNP NLRP11 ENST00000443188 human ensembl 70_37 -1 known silent c.720 p.V240 0.000 pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP11 HGNC NLRP12 91662 genome.wustl.edu 37 19 54299115 54299115 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 54299115 54299115 G C SNP NLRP12 ENST00000324134 human ensembl 70_37 -1 known silent c.3096 p.L1032 0.795 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP12 HGNC NLRP12 91662 genome.wustl.edu 37 19 54318218 54318218 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 54318218 54318218 G A SNP NLRP12 ENST00000324134 human ensembl 70_37 -1 known missense c.314 p.S105L 0.002 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP12 HGNC NLRP6 171389 genome.wustl.edu 37 11 281202 281202 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 281202 281202 G C SNP NLRP6 ENST00000312165 human ensembl 70_37 +1 known missense c.1468 p.E490Q 0.001 pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP6 HGNC NLRP7 199713 genome.wustl.edu 37 19 55449510 55449510 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 55449510 55449510 G A SNP NLRP7 ENST00000446217 human ensembl 70_37 -1 known silent c.2115 p.L705 0.014 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP7 HGNC NLRP8 126205 genome.wustl.edu 37 19 56466659 56466659 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 56466659 56466659 G A SNP NLRP8 ENST00000291971 human ensembl 70_37 +1 known missense c.1235 p.R412K 0.031 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP8 HGNC NOC3L 64318 genome.wustl.edu 37 10 96100046 96100046 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 96100046 96100046 G C SNP NOC3L ENST00000371350 human ensembl 70_37 -1 known missense c.1767 p.F589L 0.999 pfam_CCAAT-binding_factor,superfamily_ARM-type_fold,pirsf_Nucleolar_cplx-assoc_3 pfam_CCAAT-binding_factor,pfam_NOC3p,superfamily_ARM-type_fold,pirsf_Nucleolar_cplx-assoc_3 - no_errors NOC3L HGNC NOL10 79954 genome.wustl.edu 37 2 10815997 10815997 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 10815997 10815997 C T SNP NOL10 ENST00000381685 human ensembl 70_37 -1 known missense c.212 p.G71E 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_NUC153,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors NOL10 HGNC NOP56 10528 genome.wustl.edu 37 20 2636924 2636924 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 2636924 2636924 G C SNP NOP56 ENST00000480447 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors NOP56 HGNC NOS1AP 9722 genome.wustl.edu 37 1 162326791 162326791 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 162326791 162326791 G A SNP NOS1AP ENST00000361897 human ensembl 70_37 +1 known silent c.804 p.R268 1.000 NULL pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom - no_errors NOS1AP HGNC NOTCH3 4854 genome.wustl.edu 37 19 15271474 15271474 + Nonstop_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 15271474 15271474 C G SNP NOTCH3 ENST00000263388 human ensembl 70_37 -1 known nonstop c.6965 p.*2322S 1.000 NULL pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_3,prints_Notch_dom - no_errors NOTCH3 HGNC NOXRED1 122945 genome.wustl.edu 37 14 77873163 77873163 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 77873163 77873163 C T SNP NOXRED1 ENST00000380835 human ensembl 70_37 -1 known missense c.586 p.E196K 0.000 NULL pfam_NADP_OxRdtase_F420 - no_errors NOXRED1 HGNC NPAS1 4861 genome.wustl.edu 37 19 47535576 47535576 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 47535576 47535576 C G SNP NPAS1 ENST00000449844 human ensembl 70_37 +1 known silent c.399 p.V133 1.000 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pfscan_PAS,pfscan_HLH_dom - no_errors NPAS1 HGNC NPAS4 266743 genome.wustl.edu 37 11 66192484 66192484 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 66192484 66192484 C T SNP NPAS4 ENST00000311034 human ensembl 70_37 +1 known missense c.2123 p.T708M 0.991 NULL pfam_PAS_fold_3,smart_PAS,pfscan_PAS - no_errors NPAS4 HGNC NPEPL1 79716 genome.wustl.edu 37 20 57268911 57268911 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 57268911 57268911 C T SNP NPEPL1 ENST00000356091 human ensembl 70_37 +1 known missense c.269 p.S90L 0.994 NULL pfam_Peptidase_M17_C,prints_Peptidase_M17 - no_errors NPEPL1 HGNC NPHP1 4867 genome.wustl.edu 37 2 110922134 110922134 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 110922134 110922134 C G SNP NPHP1 ENST00000316534 human ensembl 70_37 -1 known missense c.902 p.R301T 0.000 NULL pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NPHP1 HGNC NPHS1 4868 genome.wustl.edu 37 19 36317448 36317448 + Missense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 36317448 36317448 G T SNP NPHS1 ENST00000378910 human ensembl 70_37 -1 known missense c.3694 p.L1232M 0.274 NULL pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors NPHS1 HGNC NPHS1 4868 genome.wustl.edu 37 19 36322209 36322209 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 36322209 36322209 G C SNP NPHS1 ENST00000378910 human ensembl 70_37 -1 known missense c.3376 p.Q1126E 0.001 NULL pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors NPHS1 HGNC NPY5R 4889 genome.wustl.edu 37 4 164272147 164272147 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 164272147 164272147 G A SNP NPY5R ENST00000338566 human ensembl 70_37 +1 known missense c.722 p.G241E 0.967 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY5_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NPY5R HGNC NR0B1 190 genome.wustl.edu 37 X 30326419 30326419 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 30326419 30326419 G A SNP NR0B1 ENST00000378970 human ensembl 70_37 -1 known silent c.1062 p.S354 0.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt - no_errors NR0B1 HGNC NR1D2 9975 genome.wustl.edu 37 3 24001171 24001171 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 24001171 24001171 C T SNP NR1D2 ENST00000312521 human ensembl 70_37 +1 known missense c.382 p.R128W 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR1D2 HGNC NRDE2 55051 genome.wustl.edu 37 14 90778753 90778753 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 90778753 90778753 C T SNP NRDE2 ENST00000354366 human ensembl 70_37 -1 known missense c.542 p.R181Q 1.000 NULL pfam_NRDE-2 - no_errors NRDE2 HGNC NRDE2 55051 genome.wustl.edu 37 14 90778787 90778787 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 90778787 90778787 C G SNP NRDE2 ENST00000354366 human ensembl 70_37 -1 known missense c.508 p.D170H 1.000 NULL pfam_NRDE-2 - no_errors NRDE2 HGNC NRDE2 55051 genome.wustl.edu 37 14 90778799 90778799 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 90778799 90778799 C G SNP NRDE2 ENST00000354366 human ensembl 70_37 -1 known missense c.496 p.D166H 1.000 NULL pfam_NRDE-2 - no_errors NRDE2 HGNC NRXN1 9378 genome.wustl.edu 37 2 50847273 50847273 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 50847273 50847273 C G SNP NRXN1 ENST00000402717 human ensembl 70_37 -1 known missense c.1183 p.E395Q 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC NSUN3 63899 genome.wustl.edu 37 3 93813021 93813021 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 93813021 93813021 G C SNP NSUN3 ENST00000314622 human ensembl 70_37 +1 known missense c.504 p.L168F 0.875 pfam_Fmu/NOL1/Nop2p pfam_Fmu/NOL1/Nop2p,prints_RCMT - no_errors NSUN3 HGNC NTF4 4909 genome.wustl.edu 37 19 49561421 49561421 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 49561421 49561421 G C SNP NTF4 ENST00000451356 human ensembl 70_37 -1 known missense c.106 p.Q36E 0.964 NULL NULL - no_errors NTF4 HGNC NUBPL 80224 genome.wustl.edu 37 14 32328428 32328428 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 32328428 32328428 G A SNP NUBPL ENST00000418681 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors NUBPL HGNC NUDT16 131870 genome.wustl.edu 37 3 131100998 131100998 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 131100998 131100998 G C SNP NUDT16 ENST00000521288 human ensembl 70_37 +1 known missense c.247 p.E83Q 0.915 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT16 HGNC NUDT8 254552 genome.wustl.edu 37 11 67396431 67396431 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 67396431 67396431 C T SNP NUDT8 ENST00000376693 human ensembl 70_37 -1 known missense c.286 p.E96K 0.017 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT8 HGNC NUGGC 389643 genome.wustl.edu 37 8 27922101 27922101 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 27922101 27922101 C T SNP NUGGC ENST00000341513 human ensembl 70_37 -1 known missense c.859 p.V287M 0.966 pfam_Dynamin_GTPase pfam_Dynamin_GTPase - no_errors NUGGC HGNC NUP188 23511 genome.wustl.edu 37 9 131765678 131765678 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 131765678 131765678 C G SNP NUP188 ENST00000372577 human ensembl 70_37 +1 known missense c.4379 p.S1460C 1.000 NULL pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold - no_errors NUP188 HGNC NUP210L 91181 genome.wustl.edu 37 1 154098850 154098850 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 154098850 154098850 C G SNP NUP210L ENST00000368559 human ensembl 70_37 -1 known silent c.1275 p.L425 0.987 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 - no_errors NUP210L HGNC NUP214 8021 genome.wustl.edu 37 9 134050876 134050876 + Nonsense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 134050876 134050876 C T SNP NUP214 ENST00000451030 human ensembl 70_37 +1 known nonsense c.3190 p.Q1064* 1.000 NULL smart_WD40_repeat - no_errors NUP214 HGNC NUP43 348995 genome.wustl.edu 37 6 150067800 150067800 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 150067800 150067800 G A SNP NUP43 ENST00000367403 human ensembl 70_37 -1 known silent c.15 p.L5 0.000 NULL superfamily_WD40_repeat_dom - no_errors NUP43 HGNC NYNRIN 57523 genome.wustl.edu 37 14 24868463 24868463 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 24868463 24868463 C G SNP NYNRIN ENST00000382554 human ensembl 70_37 +1 known missense c.11 p.S4C 0.315 NULL pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core - no_errors NYNRIN HGNC OAZ1 4946 genome.wustl.edu 37 19 2271386 2271386 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 2271386 2271386 C G SNP OAZ1 ENST00000322297 human ensembl 70_37 +1 known missense c.149 p.S50C 1.000 pfam_ODC_AZ pfam_ODC_AZ,superfamily_Acyl_CoA_acyltransferase - no_errors OAZ1 HGNC OFD1 8481 genome.wustl.edu 37 X 13779289 13779289 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 13779289 13779289 C T SNP OFD1 ENST00000340096 human ensembl 70_37 +1 known silent c.2346 p.L782 0.002 NULL superfamily_Lipoprotein_6,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors OFD1 HGNC OIT3 170392 genome.wustl.edu 37 10 74673095 74673095 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 74673095 74673095 G C SNP OIT3 ENST00000334011 human ensembl 70_37 +1 known missense c.820 p.E274Q 0.998 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_ZP_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors OIT3 HGNC OLFM3 118427 genome.wustl.edu 37 1 102290715 102290715 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 102290715 102290715 G C SNP OLFM3 ENST00000338858 human ensembl 70_37 -1 known missense c.519 p.F173L 1.000 superfamily_Quino_amine_DH_bsu pfam_Olfac-like,pfam_Noelin-1,superfamily_Quino_amine_DH_bsu,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM3 HGNC OLIG2 10215 genome.wustl.edu 37 21 34399424 34399424 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 21 34399424 34399424 C G SNP OLIG2 ENST00000333337 human ensembl 70_37 +1 known missense c.254 p.S85C 1.000 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors OLIG2 HGNC ONECUT2 9480 genome.wustl.edu 37 18 55143683 55143683 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 18 55143683 55143683 G C SNP ONECUT2 ENST00000262095 human ensembl 70_37 +1 known missense c.1243 p.E415Q 1.000 superfamily_Lambda_DNA-bd_dom pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors ONECUT2 HGNC OR10A5 144124 genome.wustl.edu 37 11 6867247 6867247 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 6867247 6867247 G C SNP OR10A5 ENST00000379831 human ensembl 70_37 +1 known missense c.346 p.E116Q 0.772 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10A5 HGNC OR1E1 8387 genome.wustl.edu 37 17 3301186 3301186 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 3301186 3301186 C G SNP OR1E1 ENST00000322608 human ensembl 70_37 -1 known silent c.519 p.V173 0.071 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1E1 HGNC OR1J4 26219 genome.wustl.edu 37 9 125281687 125281687 + Nonsense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 125281687 125281687 C T SNP OR1J4 ENST00000340750 human ensembl 70_37 +1 known nonsense c.268 p.Q90* 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1J4 HGNC OR1S2 219958 genome.wustl.edu 37 11 57971060 57971060 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 57971060 57971060 G A SNP OR1S2 ENST00000302592 human ensembl 70_37 -1 known silent c.594 p.L198 0.073 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR1S2 HGNC OR2T6 254879 genome.wustl.edu 37 1 248551419 248551419 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 248551419 248551419 C G SNP OR2T6 ENST00000355728 human ensembl 70_37 +1 known silent c.510 p.A170 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T6 HGNC OR4C3 256144 genome.wustl.edu 37 11 48346648 48346648 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 48346648 48346648 C T SNP OR4C3 ENST00000319856 human ensembl 70_37 +1 known silent c.156 p.L52 0.001 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C3 HGNC OR4D2 124538 genome.wustl.edu 37 17 56247563 56247563 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 56247563 56247563 C G SNP OR4D2 ENST00000545221 human ensembl 70_37 +1 known missense c.547 p.Q183E 0.957 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4D2 HGNC OR52A1 23538 genome.wustl.edu 37 11 5172670 5172670 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 5172670 5172670 G C SNP OR52A1 ENST00000328942 human ensembl 70_37 -1 known missense c.930 p.F310L 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52A1 HGNC OR5L2 26338 genome.wustl.edu 37 11 55595169 55595169 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 55595169 55595169 C T SNP OR5L2 ENST00000378397 human ensembl 70_37 +1 known missense c.475 p.H159Y 0.039 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5L2 HGNC OR5M1 390168 genome.wustl.edu 37 11 56380779 56380779 + Missense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 56380779 56380779 G T SNP OR5M1 ENST00000526538 human ensembl 70_37 -1 known missense c.200 p.S67Y 0.620 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M1 HGNC OR5W2 390148 genome.wustl.edu 37 11 55681195 55681195 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 55681195 55681195 C G SNP OR5W2 ENST00000344514 human ensembl 70_37 -1 known silent c.864 p.L288 0.816 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5W2 HGNC OR6C74 254783 genome.wustl.edu 37 12 55641088 55641088 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 55641088 55641088 C T SNP OR6C74 ENST00000343870 human ensembl 70_37 +1 known missense c.17 p.T6I 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C74 HGNC OR6J1 79549 genome.wustl.edu 37 14 23102873 23102873 + Missense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 23102873 23102873 G T SNP OR6J1 ENST00000540461 human ensembl 70_37 -1 known missense c.844 p.P282T 0.998 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6J1 HGNC OR6N1 128372 genome.wustl.edu 37 1 158736195 158736195 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 158736195 158736195 G A SNP OR6N1 ENST00000335094 human ensembl 70_37 -1 known missense c.278 p.S93L 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6N1 HGNC OR8I2 120586 genome.wustl.edu 37 11 55861448 55861448 + Nonsense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 55861448 55861448 C G SNP OR8I2 ENST00000302124 human ensembl 70_37 +1 known nonsense c.665 p.S222* 0.205 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8I2 HGNC OR8S1 341568 genome.wustl.edu 37 12 48919717 48919717 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 48919717 48919717 C T SNP OR8S1 ENST00000310194 human ensembl 70_37 +1 known silent c.303 p.V101 0.836 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8S1 HGNC OTOA 146183 genome.wustl.edu 37 16 21690505 21690505 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 21690505 21690505 C G SNP OTOA ENST00000286149 human ensembl 70_37 +1 known missense c.152 p.A51G 0.988 NULL NULL - no_errors OTOA HGNC OTOF 9381 genome.wustl.edu 37 2 26691336 26691336 + Nonsense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 26691336 26691336 G A SNP OTOF ENST00000272371 human ensembl 70_37 -1 known nonsense c.4030 p.R1344* 0.656 NULL pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors OTOF HGNC OTX2 5015 genome.wustl.edu 37 14 57269054 57269054 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 57269054 57269054 C G SNP OTX2 ENST00000339475 human ensembl 70_37 -1 known missense c.293 p.R98T 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Otx_TF_C,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Otx2_TF,prints_Otx_TF - no_errors OTX2 HGNC PA2G4 5036 genome.wustl.edu 37 12 56503680 56503680 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 56503680 56503680 G C SNP PA2G4 ENST00000303305 human ensembl 70_37 +1 known missense c.590 p.G197A 1.000 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,tigrfam_Pap_1 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,tigrfam_Pap_1 - no_errors PA2G4 HGNC PA2G4 5036 genome.wustl.edu 37 12 56504386 56504386 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 56504386 56504386 C T SNP PA2G4 ENST00000303305 human ensembl 70_37 +1 known missense c.752 p.P251L 1.000 superfamily_Pept_M24_structural-domain,tigrfam_Pap_1 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,tigrfam_Pap_1 - no_errors PA2G4 HGNC PAAF1 80227 genome.wustl.edu 37 11 73611423 73611423 + Nonsense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 73611423 73611423 G T SNP PAAF1 ENST00000310571 human ensembl 70_37 +1 known nonsense c.490 p.E164* 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PAAF1 HGNC PABPC5 140886 genome.wustl.edu 37 X 90690684 90690684 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 90690684 90690684 G A SNP PABPC5 ENST00000312600 human ensembl 70_37 +1 known silent c.108 p.K36 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC5 HGNC PABPN1 8106 genome.wustl.edu 37 14 23793450 23793450 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 23793450 23793450 C G SNP PABPN1 ENST00000216727 human ensembl 70_37 +1 known missense c.833 p.S278C 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PABPN1 HGNC PAF1 54623 genome.wustl.edu 37 19 39880311 39880311 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 39880311 39880311 G C SNP PAF1 ENST00000221265 human ensembl 70_37 -1 known missense c.261 p.I87M 1.000 pfam_RNA_pol_II-assoc_Paf1 pfam_RNA_pol_II-assoc_Paf1 - no_errors PAF1 HGNC PAFAH1B2 5049 genome.wustl.edu 37 11 117038362 117038362 + Missense_Mutation SNP A A T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 117038362 117038362 A T SNP PAFAH1B2 ENST00000527958 human ensembl 70_37 +1 known missense c.637 p.I213F 1.000 superfamily_Esterase_SGNH_hydro-type pfam_Lipase_GDSL,superfamily_Esterase_SGNH_hydro-type - no_errors PAFAH1B2 HGNC PAK7 57144 genome.wustl.edu 37 20 9543638 9543638 + Missense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 9543638 9543638 C A SNP PAK7 ENST00000353224 human ensembl 70_37 -1 known missense c.1516 p.V506L 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom - no_errors PAK7 HGNC PALB2 79728 genome.wustl.edu 37 16 23641068 23641068 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 23641068 23641068 C T SNP PALB2 ENST00000261584 human ensembl 70_37 -1 known missense c.2407 p.D803N 0.042 NULL superfamily_WD40_repeat_dom - no_errors PALB2 HGNC PAPD7 11044 genome.wustl.edu 37 5 6749688 6749688 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 6749688 6749688 C G SNP PAPD7 ENST00000230859 human ensembl 70_37 +1 known missense c.855 p.I285M 1.000 NULL pfam_PAP_assoc,pfam_Nucleotidyltransferase - no_errors PAPD7 HGNC PAPOLG 64895 genome.wustl.edu 37 2 61018955 61018955 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 61018955 61018955 C G SNP PAPOLG ENST00000238714 human ensembl 70_37 +1 known missense c.1456 p.H486D 1.000 pfam_PolA_pol_RNA-bd_dom,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase - no_errors PAPOLG HGNC PAPSS1 9061 genome.wustl.edu 37 4 108641220 108641220 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 108641220 108641220 G C SNP PAPSS1 ENST00000504987 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PAPSS1 HGNC PARP10 84875 genome.wustl.edu 37 8 145051698 145051698 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 145051698 145051698 G A SNP PARP10 ENST00000313028 human ensembl 70_37 -1 known missense c.3032 p.S1011F 0.295 pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP10 HGNC PBLD 64081 genome.wustl.edu 37 10 70048324 70048324 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 70048324 70048324 C T SNP PBLD ENST00000309049 human ensembl 70_37 -1 known missense c.607 p.E203K 0.090 pfam_Phenazine_PhzF,pirsf_Phenazine_PhzF,tigrfam_Phenazine_PhzF pfam_Phenazine_PhzF,pirsf_Phenazine_PhzF,tigrfam_Phenazine_PhzF - no_errors PBLD HGNC PBX2P1 5088 genome.wustl.edu 37 3 142896395 142896395 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 142896395 142896395 G A SNP PBX2P1 ENST00000560287 human ensembl 70_37 +1 known rna NULL NULL 0.996 - - - no_errors PBX2P1 HGNC PCDH11X 27328 genome.wustl.edu 37 X 91133194 91133194 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 91133194 91133194 C T SNP PCDH11X ENST00000373094 human ensembl 70_37 +1 known missense c.1955 p.S652L 0.951 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC PCDH20 64881 genome.wustl.edu 37 13 61987593 61987593 + Missense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 61987593 61987593 C A SNP PCDH20 ENST00000409186 human ensembl 70_37 -1 known missense c.639 p.Q213H 0.975 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH20 HGNC PCDHA10 56139 genome.wustl.edu 37 5 140237263 140237263 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 140237263 140237263 C T SNP PCDHA10 ENST00000307360 human ensembl 70_37 +1 known silent c.1630 p.L544 0.990 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA10 HGNC PCDHB3 56132 genome.wustl.edu 37 5 140480724 140480724 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 140480724 140480724 G C SNP PCDHB3 ENST00000231130 human ensembl 70_37 +1 known missense c.491 p.R164T 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB3 HGNC PCDHGA5 56110 genome.wustl.edu 37 5 140746301 140746301 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 140746301 140746301 G C SNP PCDHGA5 ENST00000518069 human ensembl 70_37 +1 known missense c.2404 p.E802Q 0.089 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA5 HGNC PCDHGB1 56104 genome.wustl.edu 37 5 140731835 140731835 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 140731835 140731835 G C SNP PCDHGB1 ENST00000523390 human ensembl 70_37 +1 known missense c.2008 p.D670H 0.941 pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB1 HGNC PCDHGB8P 56120 genome.wustl.edu 37 5 140806773 140806773 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 140806773 140806773 G A SNP PCDHGB8P ENST00000502926 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors PCDHGB8P HGNC PCLO 27445 genome.wustl.edu 37 7 82580629 82580629 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 82580629 82580629 G A SNP PCLO ENST00000333891 human ensembl 70_37 -1 known missense c.9275 p.S3092L 1.000 NULL pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors PCLO HGNC PCNX 22990 genome.wustl.edu 37 14 71513704 71513704 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 71513704 71513704 G C SNP PCNX ENST00000304743 human ensembl 70_37 +1 known missense c.4042 p.E1348Q 1.000 NULL pfam_Pecanex - no_errors PCNX HGNC PCNXL4 64430 genome.wustl.edu 37 14 60591245 60591245 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 60591245 60591245 G A SNP PCNXL4 ENST00000404681 human ensembl 70_37 +1 known missense c.2356 p.E786K 0.041 NULL pfam_Pecanex - no_errors PCNXL4 HGNC PCSK5 5125 genome.wustl.edu 37 9 78911633 78911633 + Missense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 78911633 78911633 G T SNP PCSK5 ENST00000545128 human ensembl 70_37 +1 known missense c.3375 p.M1125I 0.274 superfamily_Growth_fac_rcpt,smart_Furin_repeat pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC PCSK5 5125 genome.wustl.edu 37 9 78943113 78943113 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 78943113 78943113 G A SNP PCSK5 ENST00000545128 human ensembl 70_37 +1 known missense c.4447 p.E1483K 0.035 superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_EG-like_dom pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC PCSK5 5125 genome.wustl.edu 37 9 78968979 78968979 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 78968979 78968979 G C SNP PCSK5 ENST00000545128 human ensembl 70_37 +1 known missense c.5017 p.E1673Q 0.986 superfamily_Growth_fac_rcpt,smart_Furin_repeat pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC PCSK6 5046 genome.wustl.edu 37 15 101865104 101865104 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 101865104 101865104 C T SNP PCSK6 ENST00000348070 human ensembl 70_37 -1 known silent c.2325 p.E775 0.014 superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_EG-like_dom pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,pfam_PLAC,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,pfscan_PLAC,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK6 HGNC PDCD6IP 10015 genome.wustl.edu 37 3 33896794 33896794 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 33896794 33896794 C G SNP PDCD6IP ENST00000495235 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors PDCD6IP HGNC PDCD6IP 10015 genome.wustl.edu 37 3 33896806 33896806 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 33896806 33896806 C T SNP PDCD6IP ENST00000495235 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PDCD6IP HGNC PDE10A 10846 genome.wustl.edu 37 6 165756914 165756914 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 165756914 165756914 G A SNP PDE10A ENST00000539869 human ensembl 70_37 -1 known missense c.2063 p.T688M 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE10A HGNC PDE1A 5136 genome.wustl.edu 37 2 183099171 183099171 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 183099171 183099171 G A SNP PDE1A ENST00000456212 human ensembl 70_37 -1 known silent c.453 p.I151 0.510 NULL pfam_PDEase_catalytic_dom,pfam_PDEase_N,superfamily_GRIP,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1A HGNC PDE4DIP 9659 genome.wustl.edu 37 1 144859829 144859829 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 144859829 144859829 G A SNP PDE4DIP ENST00000369356 human ensembl 70_37 -1 known silent c.6255 p.L2085 0.000 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC PDE4DIP 9659 genome.wustl.edu 37 1 144915534 144915534 + Missense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 144915534 144915534 G T SNP PDE4DIP ENST00000369356 human ensembl 70_37 -1 known missense c.1891 p.L631I 0.992 superfamily_ARM-type_fold pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC PDHA1 5160 genome.wustl.edu 37 X 19372691 19372691 + Missense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 19372691 19372691 C A SNP PDHA1 ENST00000379806 human ensembl 70_37 +1 known missense c.707 p.A236D 1.000 pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y - no_errors PDHA1 HGNC PDIA3 2923 genome.wustl.edu 37 15 44038783 44038783 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 44038783 44038783 C G SNP PDIA3 ENST00000300289 human ensembl 70_37 +1 known missense c.46 p.L16V 0.535 superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase - no_errors PDIA3 HGNC PDK1 5163 genome.wustl.edu 37 2 173451105 173451105 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 173451105 173451105 G A SNP PDK1 ENST00000282077 human ensembl 70_37 +1 known missense c.1045 p.A349T 1.000 pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core pfam_BCDHK/PDK_N,pfam_ATPase-like_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core - no_errors PDK1 HGNC PDS5B 23047 genome.wustl.edu 37 13 33261335 33261335 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 33261335 33261335 C T SNP PDS5B ENST00000315596 human ensembl 70_37 +1 known missense c.1268 p.S423L 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5B HGNC PDZD2 23037 genome.wustl.edu 37 5 32089706 32089706 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 32089706 32089706 G C SNP PDZD2 ENST00000282493 human ensembl 70_37 +1 known missense c.6152 p.R2051T 0.009 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC PDZD4 57595 genome.wustl.edu 37 X 153069804 153069804 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 153069804 153069804 C G SNP PDZD4 ENST00000164640 human ensembl 70_37 -1 known missense c.1314 p.E438D 0.783 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD4 HGNC PDZD7 79955 genome.wustl.edu 37 10 102778905 102778905 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 102778905 102778905 G A SNP PDZD7 ENST00000370215 human ensembl 70_37 -1 known missense c.998 p.S333F 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD7 HGNC PFN4 375189 genome.wustl.edu 37 2 24345292 24345292 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 24345292 24345292 G A SNP PFN4 ENST00000313213 human ensembl 70_37 -1 known silent c.114 p.F38 0.861 pfam_Profilin,superfamily_Profilin,smart_Profilin pfam_Profilin,superfamily_Profilin,smart_Profilin,prints_Profilin - no_errors PFN4 HGNC PGAP1 80055 genome.wustl.edu 37 2 197750186 197750186 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 197750186 197750186 C T SNP PGAP1 ENST00000354764 human ensembl 70_37 -1 known missense c.1234 p.D412N 1.000 NULL pfam_PGAP1-like - no_errors PGAP1 HGNC PGGT1B 5229 genome.wustl.edu 37 5 114598462 114598462 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 114598462 114598462 G A SNP PGGT1B ENST00000419445 human ensembl 70_37 -1 known silent c.87 p.F29 1.000 superfamily_Terpenoid_cyclase/PrenylTrfase pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase - no_errors PGGT1B HGNC PHACTR4 65979 genome.wustl.edu 37 1 28793215 28793215 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 28793215 28793215 C T SNP PHACTR4 ENST00000373836 human ensembl 70_37 +1 known silent c.789 p.V263 0.761 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR4 HGNC PHB 5245 genome.wustl.edu 37 17 47486448 47486448 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 47486448 47486448 C T SNP PHB ENST00000300408 human ensembl 70_37 -1 known missense c.466 p.E156K 1.000 pfam_Band_7,smart_Band_7 pfam_Band_7,smart_Band_7,prints_Prohibitin - no_errors PHB HGNC PHC2 1912 genome.wustl.edu 37 1 33789883 33789883 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 33789883 33789883 C G SNP PHC2 ENST00000485928 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors PHC2 HGNC PHC2 1912 genome.wustl.edu 37 1 33789941 33789941 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 33789941 33789941 C G SNP PHC2 ENST00000485928 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors PHC2 HGNC PHF12 57649 genome.wustl.edu 37 17 27239783 27239783 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 27239783 27239783 C T SNP PHF12 ENST00000332830 human ensembl 70_37 -1 known silent c.1806 p.V602 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_SMAD_FHA_domain,smart_Znf_PHD,pfscan_FHA_dom,pfscan_Znf_PHD-finger - no_errors PHF12 HGNC PHF12 57649 genome.wustl.edu 37 17 27244306 27244306 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 27244306 27244306 C T SNP PHF12 ENST00000332830 human ensembl 70_37 -1 known silent c.1131 p.L377 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_SMAD_FHA_domain,smart_Znf_PHD,pfscan_FHA_dom,pfscan_Znf_PHD-finger - no_errors PHF12 HGNC PHF15 23338 genome.wustl.edu 37 5 133914845 133914845 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 133914845 133914845 G C SNP PHF15 ENST00000448712 human ensembl 70_37 +1 known missense c.2391 p.E797D 0.996 NULL pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF15 HGNC PHF20 51230 genome.wustl.edu 37 20 34526643 34526643 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 34526643 34526643 G A SNP PHF20 ENST00000374012 human ensembl 70_37 +1 known silent c.2325 p.P775 1.000 NULL pfam_DUF3776,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_C2H2 - no_errors PHF20 HGNC PHLDA2 7262 genome.wustl.edu 37 11 2950567 2950567 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 2950567 2950567 C G SNP PHLDA2 ENST00000314222 human ensembl 70_37 -1 known missense c.28 p.E10Q 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology - no_errors PHLDA2 HGNC PHTF2 57157 genome.wustl.edu 37 7 77484121 77484121 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 77484121 77484121 C G SNP PHTF2 ENST00000248550 human ensembl 70_37 +1 known silent c.117 p.L39 0.005 NULL pfam_TF_homeodomain_male - no_errors PHTF2 HGNC PIGO 84720 genome.wustl.edu 37 9 35091215 35091215 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 35091215 35091215 G A SNP PIGO ENST00000474436 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PIGO HGNC PIK3CA 5290 genome.wustl.edu 37 3 178916836 178916836 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 178916836 178916836 C G SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.223 p.Q75E 1.000 pfam_PI3K_adapt-bd_dom,smart_PI3K_adapt-bd_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC PIM1 5292 genome.wustl.edu 37 6 37141960 37141960 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 37141960 37141960 C T SNP PIM1 ENST00000468243 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PIM1 HGNC PIN1P1 5301 genome.wustl.edu 37 1 70385032 70385032 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 70385032 70385032 G A SNP PIN1P1 ENST00000412108 human ensembl 70_37 +1 known rna NULL NULL 0.057 - - - no_errors PIN1P1 HGNC PITPNB 23760 genome.wustl.edu 37 22 28307052 28307052 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 28307052 28307052 C G SNP PITPNB ENST00000455418 human ensembl 70_37 -1 known missense c.103 p.E35Q 1.000 pfam_PI_transfer,prints_PI_transfer pfam_PI_transfer,prints_PI_transfer - no_errors PITPNB HGNC PITPNC1 26207 genome.wustl.edu 37 17 65671646 65671646 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 65671646 65671646 G A SNP PITPNC1 ENST00000335257 human ensembl 70_37 +1 known missense c.670 p.D224N 1.000 pfam_PI_transfer,prints_PI_transfer pfam_PI_transfer,prints_PI_transfer - no_errors PITPNC1 HGNC PITPNM1 9600 genome.wustl.edu 37 11 67267839 67267839 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 67267839 67267839 C G SNP PITPNM1 ENST00000356404 human ensembl 70_37 -1 known missense c.694 p.E232Q 1.000 pfam_PI_transfer,prints_PI_transfer pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM1 HGNC PKD1 5310 genome.wustl.edu 37 16 2158721 2158721 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 2158721 2158721 C T SNP PKD1 ENST00000262304 human ensembl 70_37 -1 known silent c.6447 p.P2149 0.000 superfamily_PKD_dom,pfscan_REJ-like,tigrfam_Polycystin_cat pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC PKD1L2 114780 genome.wustl.edu 37 16 81248664 81248664 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 81248664 81248664 G A SNP PKD1L2 ENST00000337114 human ensembl 70_37 -1 known missense c.599 p.S200L 0.020 pfam_Lectin_gal-bd_dom,pfscan_Lectin_gal-bd_dom pfam_Lectin_gal-bd_dom,pfam_C-type_lectin,pfam_PKD/REJ-like,superfamily_C-type_lectin_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_PKD_dom,smart_C-type_lectin,pfscan_C-type_lectin,pfscan_Lectin_gal-bd_dom,pfscan_REJ-like - no_errors DKFZP686J19100 Uniprot_genename PKD1P5 348156 genome.wustl.edu 37 16 18478352 18478352 + RNA SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 18478352 18478352 G T SNP PKD1P5 ENST00000538166 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors PKD1P5 HGNC PKD1P5 348156 genome.wustl.edu 37 16 18484682 18484682 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 18484682 18484682 G A SNP PKD1P5 ENST00000542593 human ensembl 70_37 -1 known rna NULL NULL 0.025 - - - no_errors PKD1P5 HGNC PKDREJ 10343 genome.wustl.edu 37 22 46656322 46656322 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 46656322 46656322 G C SNP PKDREJ ENST00000253255 human ensembl 70_37 -1 known silent c.2898 p.L966 0.859 NULL pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_2,pfscan_LipOase_LH2,pfscan_REJ-like - no_errors PKDREJ HGNC PKP3 11187 genome.wustl.edu 37 11 400063 400063 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 400063 400063 C T SNP PKP3 ENST00000331563 human ensembl 70_37 +1 known missense c.1370 p.S457L 0.999 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP3 HGNC PLA2G12B 84647 genome.wustl.edu 37 10 74714349 74714349 + Nonsense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 74714349 74714349 G C SNP PLA2G12B ENST00000373032 human ensembl 70_37 -1 known nonsense c.95 p.S32* 0.056 pfam_PLipase_A2_secretory_G12 pfam_PLipase_A2_secretory_G12,superfamily_PLipase_A2 - no_errors PLA2G12B HGNC PLD5 200150 genome.wustl.edu 37 1 242687403 242687403 + Missense_Mutation SNP T T G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 242687403 242687403 T G SNP PLD5 ENST00000536534 human ensembl 70_37 -1 known missense c.176 p.D59A 1.000 NULL smart_PLipase_D/transphosphatidylase - no_errors PLD5 HGNC PLEC 5339 genome.wustl.edu 37 8 144992701 144992701 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 144992701 144992701 G A SNP PLEC ENST00000322810 human ensembl 70_37 -1 known missense c.11699 p.S3900L 0.878 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC PLEKHA5 54477 genome.wustl.edu 37 12 19459396 19459396 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 19459396 19459396 C G SNP PLEKHA5 ENST00000309364 human ensembl 70_37 +1 known missense c.1909 p.L637V 0.092 NULL pfam_Pleckstrin_homology,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_Rsp5_WWP - no_errors PLEKHA5 HGNC PLEKHG3 26030 genome.wustl.edu 37 14 65194406 65194406 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 65194406 65194406 G C SNP PLEKHG3 ENST00000394691 human ensembl 70_37 +1 known silent c.57 p.L19 0.338 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG3 HGNC PLEKHG4B 153478 genome.wustl.edu 37 5 182327 182327 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 182327 182327 C G SNP PLEKHG4B ENST00000283426 human ensembl 70_37 +1 known missense c.3705 p.I1235M 0.004 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG4B HGNC PLEKHM1 9842 genome.wustl.edu 37 17 43552613 43552613 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 43552613 43552613 G A SNP PLEKHM1 ENST00000430334 human ensembl 70_37 -1 known missense c.776 p.S259L 1.000 NULL pfam_Run,superfamily_Znf_FYVE_PHD,smart_Run,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Pleckstrin_homology,pfscan_Run,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors PLEKHM1 HGNC PLEKHM2 23207 genome.wustl.edu 37 1 16060403 16060403 + Nonsense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 16060403 16060403 C T SNP PLEKHM2 ENST00000375799 human ensembl 70_37 +1 known nonsense c.3034 p.R1012* 0.997 NULL pfam_Run,pfam_Pleckstrin_homology,smart_Run,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Run - no_errors PLEKHM2 HGNC PLK4 10733 genome.wustl.edu 37 4 128806882 128806882 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 128806882 128806882 G C SNP PLK4 ENST00000270861 human ensembl 70_37 +1 known missense c.357 p.Q119H 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_cat_dom - no_errors PLK4 HGNC PLXNA2 5362 genome.wustl.edu 37 1 208218010 208218010 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 208218010 208218010 G A SNP PLXNA2 ENST00000367033 human ensembl 70_37 -1 known silent c.3717 p.I1239 0.996 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA2 HGNC PLXNB1 5364 genome.wustl.edu 37 3 48465445 48465445 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 48465445 48465445 G A SNP PLXNB1 ENST00000296440 human ensembl 70_37 -1 known silent c.576 p.P192 0.018 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNB1 HGNC PLXNC1 10154 genome.wustl.edu 37 12 94543591 94543591 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 94543591 94543591 G C SNP PLXNC1 ENST00000258526 human ensembl 70_37 +1 known missense c.844 p.D282H 0.999 superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNC1 HGNC PNKD 25953 genome.wustl.edu 37 2 219209676 219209676 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 219209676 219209676 G A SNP PNKD ENST00000273077 human ensembl 70_37 +1 known missense c.1130 p.R377Q 0.198 tigrfam_Hydroxyacylglutathione_Hdrlase pfam_Beta-lactamas-like,smart_Beta-lactamas-like,tigrfam_Hydroxyacylglutathione_Hdrlase - no_errors PNKD HGNC PNMA1 9240 genome.wustl.edu 37 14 74179653 74179653 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 74179653 74179653 C T SNP PNMA1 ENST00000316836 human ensembl 70_37 -1 known silent c.690 p.L230 1.000 NULL superfamily_Globin-like - no_errors PNMA1 HGNC PNPLA6 10908 genome.wustl.edu 37 19 7614939 7614939 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 7614939 7614939 C T SNP PNPLA6 ENST00000414982 human ensembl 70_37 +1 known silent c.1782 p.F594 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA6 HGNC POLA1 5422 genome.wustl.edu 37 X 24717569 24717569 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 24717569 24717569 C G SNP POLA1 ENST00000379068 human ensembl 70_37 +1 known missense c.71 p.S24C 0.415 NULL pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_Znf_DNA-dir_DNA_pol_B_alpha,pfam_DNA_pol_a_cat_su_N,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 - no_errors POLA1 HGNC POLB 5423 genome.wustl.edu 37 8 42227439 42227439 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 42227439 42227439 G A SNP POLB ENST00000265421 human ensembl 70_37 +1 known missense c.846 p.M282I 1.000 smart_DNA-dir_DNA_pol_X,prints_DNA_pol_X pfam_DNA_pol_lambd_fingers_domain,superfamily_DNA-dir_DNA_pol_X_beta-like_N,superfamily_DNA_pol_lambd_fingers_domain,smart_DNA-dir_DNA_pol_X,smart_Hlx-hairpin-Hlx_DNA-bd_motif,prints_DNA_pol_X_beta-like,prints_DNA_pol_X - no_errors POLB HGNC POLE4 56655 genome.wustl.edu 37 2 75196616 75196616 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 75196616 75196616 C T SNP POLE4 ENST00000233699 human ensembl 70_37 +1 known rna NULL NULL 0.976 - - - no_errors POLE4 HGNC POLG2 11232 genome.wustl.edu 37 17 62474003 62474003 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 62474003 62474003 C G SNP POLG2 ENST00000539111 human ensembl 70_37 -1 known missense c.1395 p.M465I 1.000 pfam_Anticodon-bd,superfamily_Anticodon-bd pfam_Anticodon-bd,superfamily_Anticodon-bd - no_errors POLG2 HGNC POLR2A 5430 genome.wustl.edu 37 17 7400231 7400231 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 7400231 7400231 C T SNP POLR2A ENST00000322644 human ensembl 70_37 +1 known missense c.686 p.S229L 1.000 pfam_RNA_pol_Rpb1_1 pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N - no_errors POLR2A HGNC POLRMT 5442 genome.wustl.edu 37 19 622168 622168 + Missense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 622168 622168 G T SNP POLRMT ENST00000588649 human ensembl 70_37 -1 known missense c.1877 p.S626Y 1.000 NULL pfam_DNA-dir_Rpol_phage-type - no_errors POLRMT HGNC POM121L4P 266697 genome.wustl.edu 37 22 21044423 21044423 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 21044423 21044423 C G SNP POM121L4P ENST00000412250 human ensembl 70_37 +1 known silent c.105 p.L35 0.000 NULL NULL - no_errors POM121L4P HGNC POMT1 10585 genome.wustl.edu 37 9 134386533 134386533 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 134386533 134386533 G C SNP POMT1 ENST00000485278 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors POMT1 HGNC POTEJ 653781 genome.wustl.edu 37 2 131415303 131415303 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 131415303 131415303 C T SNP POTEJ ENST00000409602 human ensembl 70_37 +1 novel silent c.2970 p.I990 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-like - no_errors POTEJ HGNC POTEM 641455 genome.wustl.edu 37 14 20002266 20002266 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 20002266 20002266 C T SNP POTEM ENST00000547848 human ensembl 70_37 -1 known missense c.1156 p.E386K 0.152 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEM HGNC POU2F1 5451 genome.wustl.edu 37 1 167190159 167190159 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 167190159 167190159 C G SNP POU2F1 ENST00000367866 human ensembl 70_37 +1 known missense c.25 p.Q9E 1.000 NULL pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU,prints_TF_octamer - no_errors POU2F1 HGNC POU5F2 134187 genome.wustl.edu 37 5 93077198 93077198 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 93077198 93077198 C T SNP POU5F2 ENST00000510627 human ensembl 70_37 -1 known silent c.72 p.P24 0.000 NULL pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU - no_errors POU5F2 HGNC PPIAL4A 653505 genome.wustl.edu 37 1 147955334 147955334 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 147955334 147955334 G A SNP PPIAL4A ENST00000539781 human ensembl 70_37 -1 known missense c.11 p.S4F 0.996 superfamily_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIAL4A HGNC PPP1CC 5501 genome.wustl.edu 37 12 111160271 111160271 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 111160271 111160271 C G SNP PPP1CC ENST00000551676 human ensembl 70_37 -1 putative missense c.753 p.L251F 1.000 smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP1CC HGNC PPP1R16A 84988 genome.wustl.edu 37 8 145727029 145727029 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 145727029 145727029 C G SNP PPP1R16A ENST00000292539 human ensembl 70_37 +1 known missense c.1330 p.P444A 0.044 pirsf_Pase-1_reg_su_16AB_euk pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors PPP1R16A HGNC PPP1R37 284352 genome.wustl.edu 37 19 45648381 45648381 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 45648381 45648381 G A SNP PPP1R37 ENST00000221462 human ensembl 70_37 +1 known missense c.1159 p.E387K 1.000 smart_Leu-rich_rpt_RNase_inh_sub-typ smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors PPP1R37 HGNC PPP1R37 284352 genome.wustl.edu 37 19 45649049 45649049 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 45649049 45649049 G A SNP PPP1R37 ENST00000221462 human ensembl 70_37 +1 known missense c.1735 p.E579K 0.989 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors PPP1R37 HGNC PPP1R3A 5506 genome.wustl.edu 37 7 113518448 113518448 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 113518448 113518448 G A SNP PPP1R3A ENST00000284601 human ensembl 70_37 -1 known missense c.2699 p.S900F 0.003 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC PPP1R9B 84687 genome.wustl.edu 37 17 48222543 48222543 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 48222543 48222543 G C SNP PPP1R9B ENST00000316878 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors PPP1R9B HGNC PPP2R4 5524 genome.wustl.edu 37 9 131882887 131882887 + Nonsense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 131882887 131882887 C T SNP PPP2R4 ENST00000452489 human ensembl 70_37 +1 known nonsense c.127 p.Q43* 1.000 pfam_Phstyr_phstse_ac,pirsf_Phstyr_phstse_ac pfam_Phstyr_phstse_ac,pirsf_Phstyr_phstse_ac - no_errors PPP2R4 HGNC PPP2R5B 5526 genome.wustl.edu 37 11 64698937 64698937 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 64698937 64698937 G A SNP PPP2R5B ENST00000164133 human ensembl 70_37 +1 known silent c.921 p.E307 1.000 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5B HGNC PPP3CA 5530 genome.wustl.edu 37 4 102014971 102014971 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 102014971 102014971 G A SNP PPP3CA ENST00000394854 human ensembl 70_37 -1 known silent c.744 p.F248 1.000 pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP3CA HGNC PPP4R1 9989 genome.wustl.edu 37 18 9549288 9549288 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 18 9549288 9549288 G C SNP PPP4R1 ENST00000400556 human ensembl 70_37 -1 known missense c.2596 p.L866V 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP4R1 HGNC PPP4R1 9989 genome.wustl.edu 37 18 9562029 9562029 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 18 9562029 9562029 C G SNP PPP4R1 ENST00000400556 human ensembl 70_37 -1 known missense c.1791 p.L597F 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP4R1 HGNC PPP4R4 57718 genome.wustl.edu 37 14 94716590 94716590 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 94716590 94716590 G C SNP PPP4R4 ENST00000304338 human ensembl 70_37 +1 known missense c.1693 p.E565Q 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP4R4 HGNC PPP6R3 55291 genome.wustl.edu 37 11 68369359 68369359 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 68369359 68369359 C T SNP PPP6R3 ENST00000393799 human ensembl 70_37 +1 known missense c.2221 p.P741S 1.000 NULL pfam_SAPS,superfamily_ARM-type_fold - no_errors PPP6R3 HGNC PQLC2 54896 genome.wustl.edu 37 1 19651254 19651254 + Missense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 19651254 19651254 C A SNP PQLC2 ENST00000375153 human ensembl 70_37 +1 known missense c.292 p.Q98K 1.000 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt,smart_CTNS - no_errors PQLC2 HGNC PRAMEF4 400735 genome.wustl.edu 37 1 12943014 12943014 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 12943014 12943014 G C SNP PRAMEF4 ENST00000235349 human ensembl 70_37 -1 known missense c.202 p.L68V 0.014 NULL NULL - no_errors PRAMEF4 HGNC PRDM16 63976 genome.wustl.edu 37 1 3319477 3319477 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 3319477 3319477 G A SNP PRDM16 ENST00000270722 human ensembl 70_37 +1 known missense c.799 p.E267K 1.000 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM16 HGNC PRDM4 11108 genome.wustl.edu 37 12 108150630 108150630 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 108150630 108150630 G C SNP PRDM4 ENST00000228437 human ensembl 70_37 -1 known missense c.124 p.H42D 1.000 pirsf_Znf_PRDM4 pfam_Znf_C2H2,smart_Znf_C2H2-like,pirsf_Znf_PRDM4,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM4 HGNC PRDM9 56979 genome.wustl.edu 37 5 23510065 23510065 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 23510065 23510065 G A SNP PRDM9 ENST00000296682 human ensembl 70_37 +1 known missense c.230 p.R77Q 0.293 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM9 HGNC PRDX1 5052 genome.wustl.edu 37 1 45977049 45977049 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 45977049 45977049 G C SNP PRDX1 ENST00000262746 human ensembl 70_37 -1 known missense c.552 p.I184M 1.000 pfam_Peroxiredoxin_C,superfamily_Thioredoxin-like_fold pfam_AhpC/TSA,pfam_Redoxin,pfam_Peroxiredoxin_C,superfamily_Thioredoxin-like_fold - no_errors PRDX1 HGNC PRDX1 5052 genome.wustl.edu 37 1 45980297 45980297 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 45980297 45980297 G A SNP PRDX1 ENST00000262746 human ensembl 70_37 -1 known silent c.396 p.I132 0.992 pfam_AhpC/TSA,pfam_Redoxin,superfamily_Thioredoxin-like_fold pfam_AhpC/TSA,pfam_Redoxin,pfam_Peroxiredoxin_C,superfamily_Thioredoxin-like_fold - no_errors PRDX1 HGNC PREX1 57580 genome.wustl.edu 37 20 47256415 47256415 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 47256415 47256415 C T SNP PREX1 ENST00000371941 human ensembl 70_37 -1 known missense c.3793 p.E1265K 1.000 NULL pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX1 HGNC PRICKLE3 4007 genome.wustl.edu 37 X 49034710 49034710 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 49034710 49034710 C G SNP PRICKLE3 ENST00000376317 human ensembl 70_37 -1 known missense c.679 p.D227H 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE3 HGNC PRIM1 5557 genome.wustl.edu 37 12 57127958 57127958 + Nonsense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 57127958 57127958 G A SNP PRIM1 ENST00000338193 human ensembl 70_37 -1 known nonsense c.1216 p.R406* 0.494 NULL pfam_DNA_primase_S,tigrfam_DNA_primase_ssu_euk/arc - no_errors PRIM1 HGNC PRKACG 5568 genome.wustl.edu 37 9 71628379 71628379 + Silent SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 71628379 71628379 G T SNP PRKACG ENST00000377276 human ensembl 70_37 -1 known silent c.630 p.I210 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKACG HGNC PRKCDBP 112464 genome.wustl.edu 37 11 6340548 6340548 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 6340548 6340548 G C SNP PRKCDBP ENST00000303927 human ensembl 70_37 -1 known missense c.631 p.R211G 0.995 NULL NULL - no_errors PRKCDBP HGNC PRKG2 5593 genome.wustl.edu 37 4 82125986 82125986 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 82125986 82125986 G C SNP PRKG2 ENST00000264399 human ensembl 70_37 -1 known silent c.216 p.L72 0.506 pirsf_cGMP-dependent_protein_kinase pfam_Prot_kinase_cat_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_cat_dom,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin - no_errors PRKG2 HGNC PRKRIP1 79706 genome.wustl.edu 37 7 102066993 102066993 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 102066993 102066993 G C SNP PRKRIP1 ENST00000482465 human ensembl 70_37 +1 known rna NULL NULL 0.920 - - - no_errors PRKRIP1 HGNC PRNP 5621 genome.wustl.edu 37 20 4680258 4680258 + Missense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 4680258 4680258 G T SNP PRNP ENST00000379440 human ensembl 70_37 +1 known missense c.392 p.G131V 1.000 superfamily_Prion/Doppel_prot_b-ribbon_dom,smart_Prion,prints_Prion pfam_Prion/Doppel_prot_b-ribbon_dom,pfam_Prion_N_dom,superfamily_Prion/Doppel_prot_b-ribbon_dom,smart_Prion,prints_Prion - no_errors PRNP HGNC PROS1 5627 genome.wustl.edu 37 3 93646133 93646133 + Silent SNP T T C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 93646133 93646133 T C SNP PROS1 ENST00000394236 human ensembl 70_37 -1 known silent c.195 p.K65 1.000 pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain pfam_Laminin_G,pfam_EGF-like_Ca-bd,pfam_GLA_domain,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain - no_errors PROS1 HGNC PROX1 5629 genome.wustl.edu 37 1 214170276 214170276 + Nonsense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 214170276 214170276 C G SNP PROX1 ENST00000261454 human ensembl 70_37 +1 known nonsense c.398 p.S133* 1.000 pfam_Prox1 pfam_Prox1,superfamily_Homeodomain-like - no_errors PROX1 HGNC PRPH2 5961 genome.wustl.edu 37 6 42672348 42672348 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 42672348 42672348 G C SNP PRPH2 ENST00000230381 human ensembl 70_37 -1 known missense c.583 p.R195G 1.000 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Peripherin/rom-1 - no_errors PRPH2 HGNC PRR11 55771 genome.wustl.edu 37 17 57270858 57270858 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 57270858 57270858 C T SNP PRR11 ENST00000262293 human ensembl 70_37 +1 known silent c.408 p.I136 0.700 NULL NULL - no_errors PRR11 HGNC PRR19 284338 genome.wustl.edu 37 19 42814499 42814499 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 42814499 42814499 G C SNP PRR19 ENST00000341747 human ensembl 70_37 +1 known missense c.678 p.E226D 0.595 NULL NULL - no_errors PRR19 HGNC PRRC2C 23215 genome.wustl.edu 37 1 171509776 171509776 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 171509776 171509776 G C SNP PRRC2C ENST00000392078 human ensembl 70_37 +1 known missense c.3171 p.K1057N 1.000 NULL pfam_BAT2_N - no_errors PRRC2C HGNC PRRT2 112476 genome.wustl.edu 37 16 29825094 29825094 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 29825094 29825094 G A SNP PRRT2 ENST00000567659 human ensembl 70_37 +1 known missense c.719 p.R240Q 1.000 NULL pfam_Interferon-induced_TM_protein - no_errors PRRT2 HGNC PRUNE 58497 genome.wustl.edu 37 1 151001297 151001297 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 151001297 151001297 C G SNP PRUNE ENST00000271620 human ensembl 70_37 +1 known silent c.810 p.L270 0.091 pfam_DHHA2 pfam_DHHA2,pfam_Pesterase_RecJ - no_errors PRUNE HGNC PSD 5662 genome.wustl.edu 37 10 104170845 104170845 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 104170845 104170845 G A SNP PSD ENST00000020673 human ensembl 70_37 -1 known silent c.1971 p.L657 1.000 pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_Sec7 pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7,prints_PH_dom-spectrin-type - no_errors PSD HGNC PSG10P 653492 genome.wustl.edu 37 19 43348637 43348637 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 43348637 43348637 G C SNP PSG10P ENST00000597171 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors PSG10P HGNC PSG7 5676 genome.wustl.edu 37 19 43440462 43440462 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 43440462 43440462 C T SNP PSG7 ENST00000471557 human ensembl 70_37 -1 known rna NULL NULL 0.014 - - - no_errors PSG7 HGNC PSMD5 5711 genome.wustl.edu 37 9 123605112 123605112 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 123605112 123605112 G A SNP PSMD5 ENST00000210313 human ensembl 70_37 -1 known missense c.76 p.H26Y 0.575 pfam_26S_Psome_nonATP_su5 pfam_26S_Psome_nonATP_su5,superfamily_ARM-type_fold - no_errors PSMD5 HGNC PSMD9 5715 genome.wustl.edu 37 12 122340930 122340930 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 122340930 122340930 G A SNP PSMD9 ENST00000541212 human ensembl 70_37 +1 known missense c.472 p.E158K 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ - no_errors PSMD9 HGNC PSPC1 55269 genome.wustl.edu 37 13 20356657 20356657 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 20356657 20356657 G A SNP PSPC1 ENST00000338910 human ensembl 70_37 -1 known missense c.241 p.R81C 1.000 NULL pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom - no_errors PSPC1 HGNC PTBP1 5725 genome.wustl.edu 37 19 810808 810808 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 810808 810808 C G SNP PTBP1 ENST00000356948 human ensembl 70_37 +1 known missense c.1656 p.F552L 1.000 pfscan_RRM_dom,tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors PTBP1 HGNC PTGDR 5729 genome.wustl.edu 37 14 52734613 52734613 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 52734613 52734613 C T SNP PTGDR ENST00000306051 human ensembl 70_37 +1 known silent c.81 p.F27 1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Pglndn_D_rcpt,prints_Prostanoid_rcpt - no_errors PTGDR HGNC PTGER2 5732 genome.wustl.edu 37 14 52781855 52781855 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 52781855 52781855 C T SNP PTGER2 ENST00000245457 human ensembl 70_37 +1 known silent c.589 p.L197 0.984 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_EP2_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn - no_errors PTGER2 HGNC PTGER4 5734 genome.wustl.edu 37 5 40681722 40681722 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 40681722 40681722 G A SNP PTGER4 ENST00000302472 human ensembl 70_37 +1 known silent c.627 p.A209 0.995 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prost_EP4_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prost_EP4_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn,prints_Prostglndn_DP_rcpt - no_errors PTGER4 HGNC PTGER4 5734 genome.wustl.edu 37 5 40681917 40681917 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 40681917 40681917 C T SNP PTGER4 ENST00000302472 human ensembl 70_37 +1 known silent c.822 p.L274 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Prostanoid_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prost_EP4_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn,prints_Prostglndn_DP_rcpt - no_errors PTGER4 HGNC PTGES3 10728 genome.wustl.edu 37 12 57057307 57057307 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 57057307 57057307 C T SNP PTGES3 ENST00000537473 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors PTGES3 HGNC PTH1R 5745 genome.wustl.edu 37 3 46940273 46940273 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 46940273 46940273 G C SNP PTH1R ENST00000313049 human ensembl 70_37 +1 known missense c.760 p.E254Q 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_parathyroid_rcpt pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_parathyroid_rcpt - no_errors PTH1R HGNC PTPN12 5782 genome.wustl.edu 37 7 77256266 77256266 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 77256266 77256266 G A SNP PTPN12 ENST00000248594 human ensembl 70_37 +1 known missense c.1270 p.E424K 1.000 pirsf_Tyr_Pase_non-rcpt_typ-12 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-12,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN12 HGNC PTPN23 25930 genome.wustl.edu 37 3 47451199 47451199 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 47451199 47451199 G A SNP PTPN23 ENST00000265562 human ensembl 70_37 +1 known silent c.2004 p.L668 1.000 NULL pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_BRO1_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN23 HGNC PTPRK 5796 genome.wustl.edu 37 6 128840283 128840283 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 128840283 128840283 G C SNP PTPRK ENST00000368202 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PTPRK HGNC PTPRM 5797 genome.wustl.edu 37 18 8370921 8370921 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 18 8370921 8370921 G C SNP PTPRM ENST00000400060 human ensembl 70_37 +1 known missense c.3091 p.E1031Q 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRM HGNC PTPRM 5797 genome.wustl.edu 37 18 8379198 8379198 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 18 8379198 8379198 G C SNP PTPRM ENST00000400060 human ensembl 70_37 +1 known missense c.3649 p.E1217Q 1.000 smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRM HGNC PVRL3 25945 genome.wustl.edu 37 3 110912071 110912071 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 110912071 110912071 G A SNP PVRL3 ENST00000493615 human ensembl 70_37 +1 putative missense c.1309 p.D437N 0.985 NULL pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like - no_errors PVRL3 HGNC PXDNL 137902 genome.wustl.edu 37 8 52325734 52325734 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 52325734 52325734 G C SNP PXDNL ENST00000356297 human ensembl 70_37 -1 known missense c.1880 p.S627C 1.000 NULL pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like,prints_Haem_peroxidase_animal_subgr - no_errors PXDNL HGNC PYY 5697 genome.wustl.edu 37 17 42030544 42030544 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 42030544 42030544 C G SNP PYY ENST00000360085 human ensembl 70_37 -1 known missense c.202 p.D68H 0.009 NULL pfam_Pancreatic_hormone-like,smart_Pancreatic_hormone-like,pfscan_Pancreatic_hormone-like,prints_Pancreatic_hormone-like - no_errors PYY HGNC QKI 9444 genome.wustl.edu 37 6 163984548 163984548 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 163984548 163984548 C T SNP QKI ENST00000361752 human ensembl 70_37 +1 known missense c.731 p.P244L 0.963 NULL pfam_KH_dom_type_1,smart_KH_dom - no_errors QKI HGNC QKI 9444 genome.wustl.edu 37 6 163984559 163984559 + Missense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 163984559 163984559 G T SNP QKI ENST00000361752 human ensembl 70_37 +1 known missense c.742 p.G248C 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom - no_errors QKI HGNC R3HCC1L 27291 genome.wustl.edu 37 10 99969375 99969375 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 99969375 99969375 G A SNP R3HCC1L ENST00000298999 human ensembl 70_37 +1 known missense c.1504 p.D502N 0.865 NULL NULL - no_errors R3HCC1L HGNC RAB20 55647 genome.wustl.edu 37 13 111176517 111176517 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 111176517 111176517 G A SNP RAB20 ENST00000267328 human ensembl 70_37 -1 known missense c.200 p.S67F 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB20 HGNC RAB28 9364 genome.wustl.edu 37 4 13462410 13462410 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 13462410 13462410 C G SNP RAB28 ENST00000330852 human ensembl 70_37 -1 known missense c.304 p.E102Q 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB28 HGNC RAB7A 7879 genome.wustl.edu 37 3 128516831 128516831 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 128516831 128516831 C G SNP RAB7A ENST00000265062 human ensembl 70_37 +1 known missense c.99 p.F33L 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB7A HGNC RALBP1 10928 genome.wustl.edu 37 18 9535792 9535792 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 18 9535792 9535792 G A SNP RALBP1 ENST00000019317 human ensembl 70_37 +1 known missense c.1825 p.E609K 0.835 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors RALBP1 HGNC RALGDS 5900 genome.wustl.edu 37 9 135979179 135979179 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 135979179 135979179 G A SNP RALGDS ENST00000542690 human ensembl 70_37 -1 known silent c.1926 p.L642 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RALGDS HGNC RANBP3L 202151 genome.wustl.edu 37 5 36265092 36265092 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 36265092 36265092 G C SNP RANBP3L ENST00000296604 human ensembl 70_37 -1 known missense c.449 p.S150C 0.203 NULL pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom - no_errors RANBP3L HGNC RANBP6 26953 genome.wustl.edu 37 9 6012370 6012370 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 6012370 6012370 C T SNP RANBP6 ENST00000259569 human ensembl 70_37 -1 known missense c.3238 p.E1080K 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors RANBP6 HGNC RAP1B 5908 genome.wustl.edu 37 12 69044238 69044238 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 69044238 69044238 C G SNP RAP1B ENST00000250559 human ensembl 70_37 +1 known missense c.116 p.S39C 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAP1B HGNC RAP2C 57826 genome.wustl.edu 37 X 131351213 131351213 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 131351213 131351213 G A SNP RAP2C ENST00000342983 human ensembl 70_37 -1 known silent c.84 p.F28 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAP2C HGNC RAPGEF6 51735 genome.wustl.edu 37 5 130883862 130883862 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 130883862 130883862 C T SNP RAPGEF6 ENST00000509018 human ensembl 70_37 -1 known missense c.373 p.E125K 1.000 NULL pfam_RasGRF_CDC25,pfam_PDZ,pfam_Ras-assoc,pfam_cNMP-bd_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF6 HGNC RARB 5915 genome.wustl.edu 37 3 25636104 25636104 + Frame_Shift_Del DEL G G - TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 25636104 25636104 G - DEL RARB ENST00000404969 human ensembl 70_37 +1 known frame_shift_del c.1106 p.S369fs 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors RARB HGNC RASGRP1 10125 genome.wustl.edu 37 15 38786816 38786816 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 38786816 38786816 C T SNP RASGRP1 ENST00000310803 human ensembl 70_37 -1 known missense c.2026 p.E676K 0.986 NULL pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd - no_errors RASGRP1 HGNC RASL12 51285 genome.wustl.edu 37 15 65350926 65350926 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 65350926 65350926 C T SNP RASL12 ENST00000220062 human ensembl 70_37 -1 known silent c.264 p.L88 0.985 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RASL12 HGNC RASSF1 11186 genome.wustl.edu 37 3 50368087 50368087 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 50368087 50368087 G A SNP RASSF1 ENST00000357043 human ensembl 70_37 -1 known silent c.960 p.L320 0.995 pfscan_SARAH pfam_Ras-assoc,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors RASSF1 HGNC RASSF2 9770 genome.wustl.edu 37 20 4776485 4776485 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 4776485 4776485 G C SNP RASSF2 ENST00000379376 human ensembl 70_37 -1 known missense c.263 p.S88C 1.000 NULL pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH - no_errors RASSF2 HGNC RBM12B 389677 genome.wustl.edu 37 8 94746938 94746938 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 94746938 94746938 G A SNP RBM12B ENST00000399300 human ensembl 70_37 -1 known silent c.1701 p.F567 0.003 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM12B HGNC RBM14 10432 genome.wustl.edu 37 11 66384308 66384308 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 66384308 66384308 C T SNP RBM14 ENST00000310137 human ensembl 70_37 +1 known silent c.117 p.F39 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM14 HGNC RBM14 10432 genome.wustl.edu 37 11 66393087 66393087 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 66393087 66393087 C T SNP RBM14 ENST00000310137 human ensembl 70_37 +1 known silent c.1740 p.R580 0.990 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM14 HGNC RBM26 64062 genome.wustl.edu 37 13 79927342 79927342 + Silent SNP A A G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 79927342 79927342 A G SNP RBM26 ENST00000327303 human ensembl 70_37 -1 known silent c.2004 p.S668 1.000 NULL pfam_PWI,superfamily_PWI,smart_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM26 HGNC RBMX2 51634 genome.wustl.edu 37 X 129535995 129535995 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 129535995 129535995 G C SNP RBMX2 ENST00000469953 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RBMX2 HGNC RBMX2 51634 genome.wustl.edu 37 X 129536100 129536100 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 129536100 129536100 G A SNP RBMX2 ENST00000469953 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RBMX2 HGNC RC3H2 54542 genome.wustl.edu 37 9 125613673 125613673 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 125613673 125613673 C G SNP RC3H2 ENST00000357244 human ensembl 70_37 -1 known missense c.3160 p.D1054H 1.000 NULL pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING - no_errors RC3H2 HGNC RC3H2 54542 genome.wustl.edu 37 9 125645647 125645647 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 125645647 125645647 C G SNP RC3H2 ENST00000357244 human ensembl 70_37 -1 known missense c.595 p.E199Q 1.000 NULL pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING - no_errors RC3H2 HGNC RCBTB2 1102 genome.wustl.edu 37 13 49075957 49075957 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 49075957 49075957 C G SNP RCBTB2 ENST00000430805 human ensembl 70_37 -1 known missense c.1180 p.D394H 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold pfam_Reg_chr_condens,pfam_BTB_POZ,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RCBTB2 HGNC RCBTB2 1102 genome.wustl.edu 37 13 49075967 49075967 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 49075967 49075967 C T SNP RCBTB2 ENST00000430805 human ensembl 70_37 -1 known silent c.1170 p.K390 1.000 superfamily_BTB/POZ_fold pfam_Reg_chr_condens,pfam_BTB_POZ,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RCBTB2 HGNC RDX 5962 genome.wustl.edu 37 11 110135560 110135560 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 110135560 110135560 C T SNP RDX ENST00000530749 human ensembl 70_37 -1 known missense c.136 p.G46R 1.000 pirsf_ERM,pfam_FERM_N,smart_Band_41_domain,prints_Band_41_fam,pfscan_FERM_domain pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Band_41_domain,prints_Ez/rad/moesin,prints_Band_41_fam,pfscan_FERM_domain - no_errors RDX HGNC RECK 8434 genome.wustl.edu 37 9 36063807 36063807 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 36063807 36063807 C G SNP RECK ENST00000377966 human ensembl 70_37 +1 known missense c.287 p.S96C 1.000 NULL pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Prot_inh_PMP,smart_Prot_inh_Kazal - no_errors RECK HGNC REEP1 65055 genome.wustl.edu 37 2 86444209 86444209 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 86444209 86444209 G C SNP REEP1 ENST00000541910 human ensembl 70_37 -1 known missense c.385 p.R129G 1.000 NULL pfam_TB2_DP1_HVA22 - no_errors REEP1 HGNC REG1A 5967 genome.wustl.edu 37 2 79348786 79348786 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 79348786 79348786 G A SNP REG1A ENST00000233735 human ensembl 70_37 +1 known missense c.163 p.E55K 0.001 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors REG1A HGNC RERE 473 genome.wustl.edu 37 1 8418579 8418579 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 8418579 8418579 G A SNP RERE ENST00000337907 human ensembl 70_37 -1 known missense c.4016 p.P1339L 1.000 pfam_Atrophin-like pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors RERE HGNC RFX5 5993 genome.wustl.edu 37 1 151317606 151317606 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 151317606 151317606 G A SNP RFX5 ENST00000290524 human ensembl 70_37 -1 known missense c.209 p.S70L 1.000 NULL pfam_DNA-bd_RFX - no_errors RFX5 HGNC RHBDD2 57414 genome.wustl.edu 37 7 75517728 75517728 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 75517728 75517728 G C SNP RHBDD2 ENST00000468304 human ensembl 70_37 +1 putative rna NULL NULL 0.001 - - - no_errors RHBDD2 HGNC RHBDF2 79651 genome.wustl.edu 37 17 74467961 74467961 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 74467961 74467961 G A SNP RHBDF2 ENST00000313080 human ensembl 70_37 -1 known silent c.2325 p.F775 1.000 pfam_Peptidase_S54_rhomboid_dom pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom - no_errors RHBDF2 HGNC RHOBTB3 22836 genome.wustl.edu 37 5 95128826 95128826 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 95128826 95128826 C T SNP RHOBTB3 ENST00000379982 human ensembl 70_37 +1 known missense c.1784 p.A595V 0.998 NULL pfam_BTB_POZ,pfam_Small_GTPase,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors RHOBTB3 HGNC RHPN2 85415 genome.wustl.edu 37 19 33493247 33493247 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 33493247 33493247 G A SNP RHPN2 ENST00000254260 human ensembl 70_37 -1 known silent c.1011 p.I337 0.999 pfam_BRO1_dom,pfscan_BRO1_dom pfam_BRO1_dom,pfam_HR1_rho-bd,superfamily_HR1_rho-bd,superfamily_PDZ,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom - no_errors RHPN2 HGNC RIMS1 22999 genome.wustl.edu 37 6 72678707 72678707 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 72678707 72678707 G A SNP RIMS1 ENST00000521978 human ensembl 70_37 +1 known silent c.186 p.A62 1.000 superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC RIN1 9610 genome.wustl.edu 37 11 66102954 66102954 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 66102954 66102954 G A SNP RIN1 ENST00000311320 human ensembl 70_37 -1 known silent c.471 p.L157 0.987 pfscan_SH2 pfam_VPS9,pfam_Ras-assoc,smart_SH2,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9 - no_errors RIN1 HGNC RIOK2 55781 genome.wustl.edu 37 5 96506914 96506914 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 96506914 96506914 C G SNP RIOK2 ENST00000283109 human ensembl 70_37 -1 known missense c.775 p.E259Q 1.000 pfam_RIO-like_kinase,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_RIO_kinase pfam_RIO-like_kinase,pfam_RIO2_kinase_winged_hlx_N,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_RIO_kinase - no_errors RIOK2 HGNC RLN2 6019 genome.wustl.edu 37 9 5300256 5300256 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 5300256 5300256 G A SNP RLN2 ENST00000381627 human ensembl 70_37 -1 known missense c.400 p.R134C 0.000 pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Relaxin,prints_Insulin_family - no_errors RLN2 HGNC RMND5B 64777 genome.wustl.edu 37 5 177570673 177570673 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 177570673 177570673 G C SNP RMND5B ENST00000313386 human ensembl 70_37 +1 known missense c.472 p.E158Q 1.000 smart_CTLH_C,pfscan_CTLH_C smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors RMND5B HGNC RNASE1 6035 genome.wustl.edu 37 14 21269764 21269764 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 21269764 21269764 G C SNP RNASE1 ENST00000340900 human ensembl 70_37 -1 known missense c.464 p.S155C 0.000 NULL pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA - no_errors RNASE1 HGNC RNF111 54778 genome.wustl.edu 37 15 59387098 59387098 + Nonstop_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 59387098 59387098 G C SNP RNF111 ENST00000434298 human ensembl 70_37 +1 known nonstop c.3011 p.*1004S 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF111 HGNC RNF112 7732 genome.wustl.edu 37 17 19318606 19318606 + Nonsense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 19318606 19318606 C G SNP RNF112 ENST00000461366 human ensembl 70_37 +1 novel nonsense c.1304 p.S435* 0.634 NULL pfam_Guanylate-bd_N,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF112 HGNC RNF126P1 376412 genome.wustl.edu 37 17 55123846 55123846 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 55123846 55123846 G C SNP RNF126P1 ENST00000567452 human ensembl 70_37 +1 known rna NULL NULL 0.091 - - - no_errors RNF126P1 HGNC RNF14 9604 genome.wustl.edu 37 5 141363115 141363115 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 141363115 141363115 G C SNP RNF14 ENST00000347642 human ensembl 70_37 +1 known missense c.1234 p.E412Q 0.999 pfam_Znf_C6HC,smart_Znf_C6HC pfam_RWD-domain,pfam_Znf_C6HC,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,smart_Znf_C6HC,pfscan_RWD-domain,pfscan_Znf_RING - no_errors RNF14 HGNC RNF40 9810 genome.wustl.edu 37 16 30779554 30779554 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 30779554 30779554 G C SNP RNF40 ENST00000324685 human ensembl 70_37 +1 known missense c.1682 p.R561T 0.534 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF40 HGNC RNF41 10193 genome.wustl.edu 37 12 56600311 56600311 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 56600311 56600311 C T SNP RNF41 ENST00000345093 human ensembl 70_37 -1 known missense c.874 p.E292K 1.000 pfam_USP8_interacting pfam_USP8_interacting,pfam_Znf_C3HC4_RING-type,pfam_Ubox_domain,superfamily_TRAF-like,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SIAH - no_errors RNF41 HGNC RNPEP 6051 genome.wustl.edu 37 1 201970888 201970888 + Silent SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 201970888 201970888 C A SNP RNPEP ENST00000295640 human ensembl 70_37 +1 known silent c.1419 p.I473 0.994 NULL pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold,prints_Peptidase_M1_N - no_errors RNPEP HGNC ROCK2 9475 genome.wustl.edu 37 2 11356289 11356289 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 11356289 11356289 C G SNP ROCK2 ENST00000315872 human ensembl 70_37 -1 known missense c.1456 p.E486Q 1.000 pirsf_Rho-assoc_coiled-coil_kin pfam_Prot_kinase_cat_dom,pfam_Rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_tRNA-bd_arm,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors ROCK2 HGNC ROPN1B 152015 genome.wustl.edu 37 3 125702118 125702118 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 125702118 125702118 C G SNP ROPN1B ENST00000251776 human ensembl 70_37 +1 known missense c.594 p.I198M 1.000 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors ROPN1B HGNC RPA1 6117 genome.wustl.edu 37 17 1798302 1798302 + Splice_Site SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 1798302 1798302 G A SNP RPA1 ENST00000254719 human ensembl 70_37 +1 known splice_site c.1660-1 e16-1 1.000 - - - no_errors RPA1 HGNC RPAP2 79871 genome.wustl.edu 37 1 92789379 92789379 + Nonsense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 92789379 92789379 C A SNP RPAP2 ENST00000370343 human ensembl 70_37 +1 known nonsense c.902 p.S301* 0.035 NULL pfam_DUF408 - no_errors RPAP2 HGNC RPGR 6103 genome.wustl.edu 37 X 38146058 38146058 + Nonsense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 38146058 38146058 C A SNP RPGR ENST00000378505 human ensembl 70_37 -1 known nonsense c.2194 p.E732* 0.002 NULL pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RPGR HGNC RPGRIP1 57096 genome.wustl.edu 37 14 21771580 21771580 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 21771580 21771580 C G SNP RPGRIP1 ENST00000206660 human ensembl 70_37 +1 known missense c.678 p.I226M 0.004 NULL pfam_DUF3250,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors RPGRIP1 HGNC RPGRIP1 57096 genome.wustl.edu 37 14 21789513 21789513 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 21789513 21789513 G C SNP RPGRIP1 ENST00000206660 human ensembl 70_37 +1 known missense c.1563 p.K521N 1.000 NULL pfam_DUF3250,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors RPGRIP1 HGNC RPL13AP3 645683 genome.wustl.edu 37 14 56233559 56233559 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 56233559 56233559 C G SNP RPL13AP3 ENST00000494676 human ensembl 70_37 +1 known rna NULL NULL 0.121 - - - no_errors RPL13AP3 HGNC RPL35 11224 genome.wustl.edu 37 9 127622541 127622541 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 127622541 127622541 C T SNP RPL35 ENST00000348462 human ensembl 70_37 -1 known missense c.143 p.R48Q 1.000 pfam_Ribosomal_L29,superfamily_Ribosomal_L29,tigrfam_Ribosomal_L29 pfam_Ribosomal_L29,superfamily_Ribosomal_L29,tigrfam_Ribosomal_L29 - no_errors RPL35 HGNC RPL4 6124 genome.wustl.edu 37 15 66792466 66792466 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 66792466 66792466 C G SNP RPL4 ENST00000307961 human ensembl 70_37 -1 known missense c.966 p.L322F 1.000 NULL pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom - no_errors RPL4 HGNC RPL7A 6130 genome.wustl.edu 37 9 136215803 136215803 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 136215803 136215803 G C SNP RPL7A ENST00000323345 human ensembl 70_37 +1 known missense c.30 p.K10N 1.000 NULL pfam_Ribosomal_L7Ae/L30e/S12e/Gad45,prints_Ribosomal_L7A/L8,prints_Ribosomal_L7Ae/L8/Nhp2 - no_errors RPL7A HGNC RPS6KA2 6196 genome.wustl.edu 37 6 166827357 166827357 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 166827357 166827357 G A SNP RPS6KA2 ENST00000510118 human ensembl 70_37 -1 known silent c.2076 p.L692 0.933 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors RPS6KA2 HGNC RPTOR 57521 genome.wustl.edu 37 17 78796982 78796982 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 78796982 78796982 C T SNP RPTOR ENST00000306801 human ensembl 70_37 +1 known silent c.1095 p.V365 1.000 NULL pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor - no_errors RPTOR HGNC RQCD1 9125 genome.wustl.edu 37 2 219445325 219445325 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 219445325 219445325 C G SNP RQCD1 ENST00000509807 human ensembl 70_37 +1 known missense c.66 p.I22M 1.000 NULL pfam_Cell_differentiation_Rcd1,superfamily_ARM-type_fold - no_errors RQCD1 HGNC RRAD 6236 genome.wustl.edu 37 16 66957536 66957536 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 66957536 66957536 C G SNP RRAD ENST00000299759 human ensembl 70_37 -1 known missense c.532 p.E178Q 1.000 pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,pirsf_Small_GTPase_GEM/REM/Rad,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,pirsf_Small_GTPase_GEM/REM/Rad,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RRAD HGNC RRP1B 23076 genome.wustl.edu 37 21 45103223 45103223 + Missense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 21 45103223 45103223 G T SNP RRP1B ENST00000340648 human ensembl 70_37 +1 known missense c.860 p.G287V 0.001 NULL pfam_Nop52 - no_errors RRP1B HGNC RTN4 57142 genome.wustl.edu 37 2 55253525 55253525 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 55253525 55253525 C G SNP RTN4 ENST00000337526 human ensembl 70_37 -1 known missense c.1710 p.K570N 0.505 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN4 HGNC RTTN 25914 genome.wustl.edu 37 18 67781755 67781755 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 18 67781755 67781755 G A SNP RTTN ENST00000255674 human ensembl 70_37 -1 known silent c.3609 p.V1203 1.000 NULL superfamily_ARM-type_fold - no_errors RTTN HGNC RUSC2 9853 genome.wustl.edu 37 9 35560361 35560361 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 35560361 35560361 G C SNP RUSC2 ENST00000361226 human ensembl 70_37 +1 known missense c.3724 p.E1242Q 0.995 NULL pfam_Run,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC2 HGNC RYR1 6261 genome.wustl.edu 37 19 38949865 38949865 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 38949865 38949865 C T SNP RYR1 ENST00000359596 human ensembl 70_37 +1 known silent c.2247 p.L749 0.885 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC SAGE1 55511 genome.wustl.edu 37 X 134989560 134989560 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 134989560 134989560 G A SNP SAGE1 ENST00000324447 human ensembl 70_37 +1 known silent c.966 p.V322 0.000 NULL NULL - no_errors SAGE1 HGNC SAMD12 401474 genome.wustl.edu 37 8 119391916 119391916 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 119391916 119391916 C T SNP SAMD12 ENST00000314727 human ensembl 70_37 -1 known missense c.346 p.D116N 1.000 pfam_SAM_2,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_2,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD12 HGNC SAMD13 148418 genome.wustl.edu 37 1 84768891 84768891 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 84768891 84768891 G A SNP SAMD13 ENST00000370671 human ensembl 70_37 +1 known missense c.34 p.E12K 1.000 NULL pfam_SAM_type1,pfam_SAM_2,pfam_Pointed_dom,superfamily_SAM/pointed,pfscan_SAM - no_errors SAMD13 HGNC SBSN 374897 genome.wustl.edu 37 19 36017549 36017549 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 36017549 36017549 C T SNP SBSN ENST00000518157 human ensembl 70_37 -1 known silent c.606 p.L202 1.000 NULL NULL - no_errors SBSN HGNC SCAPER 49855 genome.wustl.edu 37 15 76998282 76998282 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 76998282 76998282 C T SNP SCAPER ENST00000324767 human ensembl 70_37 -1 known missense c.2209 p.E737K 1.000 NULL smart_Znf_U1 - no_errors SCAPER HGNC SCARB1 949 genome.wustl.edu 37 12 125296452 125296452 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 125296452 125296452 C T SNP SCARB1 ENST00000415380 human ensembl 70_37 -1 known silent c.690 p.R230 0.929 pfam_CD36 pfam_CD36,prints_CD36,prints_CD36_antigen - no_errors SCARB1 HGNC SCARF2 91179 genome.wustl.edu 37 22 20781775 20781775 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 20781775 20781775 C G SNP SCARF2 ENST00000405555 human ensembl 70_37 -1 known missense c.1603 p.E535Q 1.000 NULL pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom - no_errors SCARF2 HGNC SCN3A 6328 genome.wustl.edu 37 2 165984182 165984182 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 165984182 165984182 C T SNP SCN3A ENST00000283254 human ensembl 70_37 -1 known missense c.3352 p.E1118K 1.000 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN3A HGNC SCN4B 6330 genome.wustl.edu 37 11 118006542 118006542 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 118006542 118006542 C G SNP SCN4B ENST00000423160 human ensembl 70_37 -1 known rna NULL NULL 0.113 - - - no_errors SCN4B HGNC SCN7A 6332 genome.wustl.edu 37 2 167319025 167319025 + Silent SNP T T A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 167319025 167319025 T A SNP SCN7A ENST00000409855 human ensembl 70_37 -1 known silent c.957 p.G319 0.242 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN7A HGNC SCRIB 23513 genome.wustl.edu 37 8 144876128 144876128 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 144876128 144876128 G A SNP SCRIB ENST00000320476 human ensembl 70_37 -1 known missense c.3851 p.P1284L 0.003 NULL pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors SCRIB HGNC SCUBE3 222663 genome.wustl.edu 37 6 35210024 35210024 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 35210024 35210024 C G SNP SCUBE3 ENST00000394681 human ensembl 70_37 +1 known missense c.1509 p.I503M 1.000 NULL pfam_EGF-like_Ca-bd,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom,prints_Thrombomodulin - no_errors SCUBE3 HGNC SDC1 6382 genome.wustl.edu 37 2 20402528 20402528 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 20402528 20402528 C T SNP SDC1 ENST00000254351 human ensembl 70_37 -1 known silent c.932 p.*311 1.000 NULL pfam_Syndecan,smart_Neurexin-like - no_errors SDC1 HGNC SDK1 221935 genome.wustl.edu 37 7 4050690 4050690 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 4050690 4050690 C T SNP SDK1 ENST00000404826 human ensembl 70_37 +1 known missense c.2224 p.R742W 0.659 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors SDK1 HGNC SEC31A 22872 genome.wustl.edu 37 4 83774807 83774807 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 83774807 83774807 G A SNP SEC31A ENST00000432794 human ensembl 70_37 -1 known silent c.2070 p.L690 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31A HGNC SEMA4B 10509 genome.wustl.edu 37 15 90768586 90768586 + Nonsense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 90768586 90768586 C G SNP SEMA4B ENST00000332496 human ensembl 70_37 +1 known nonsense c.1478 p.S493* 0.587 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag - no_errors SEMA4B HGNC SEPT3 55964 genome.wustl.edu 37 22 42387592 42387592 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 42387592 42387592 G C SNP SEPT3 ENST00000396426 human ensembl 70_37 +1 known missense c.685 p.E229Q 1.000 pfam_Cell_div_GTP-bd,pirsf_Septin pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pfam_AIG1,pirsf_Septin,prints_Septin3 - no_errors SEPT3 HGNC SEPT9 10801 genome.wustl.edu 37 17 75478551 75478551 + Missense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 75478551 75478551 G T SNP SEPT9 ENST00000592420 human ensembl 70_37 +1 putative missense c.474 p.L158F 0.000 NULL NULL - no_errors SEPT9 HGNC SERINC5 256987 genome.wustl.edu 37 5 79465309 79465309 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 79465309 79465309 G A SNP SERINC5 ENST00000509193 human ensembl 70_37 -1 known silent c.612 p.I204 1.000 pfam_TMS_TDE pfam_TMS_TDE - no_errors SERINC5 HGNC SERINC5 256987 genome.wustl.edu 37 5 79465312 79465312 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 79465312 79465312 G A SNP SERINC5 ENST00000509193 human ensembl 70_37 -1 known silent c.609 p.L203 0.405 pfam_TMS_TDE pfam_TMS_TDE - no_errors SERINC5 HGNC SESN2 83667 genome.wustl.edu 37 1 28598238 28598238 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 28598238 28598238 G A SNP SESN2 ENST00000253063 human ensembl 70_37 +1 known silent c.210 p.L70 0.781 pfam_PA26 pfam_PA26 - no_errors SESN2 HGNC SEZ6 124925 genome.wustl.edu 37 17 27283392 27283392 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 27283392 27283392 C G SNP SEZ6 ENST00000317338 human ensembl 70_37 -1 known missense c.2825 p.G942A 1.000 NULL pfam_Sushi_SCR_CCP,pfam_CUB,superfamily_CUB,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_CUB,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors SEZ6 HGNC SFR1 119392 genome.wustl.edu 37 10 105885337 105885337 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 105885337 105885337 G A SNP SFR1 ENST00000336358 human ensembl 70_37 +1 known missense c.799 p.E267K 1.000 pfam_Ds-recomb_repair_prot_Mei5 pfam_Ds-recomb_repair_prot_Mei5 - no_errors SFR1 HGNC SGIP1 84251 genome.wustl.edu 37 1 67154849 67154849 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 67154849 67154849 G C SNP SGIP1 ENST00000237247 human ensembl 70_37 +1 known missense c.1427 p.R476P 1.000 NULL pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C - no_errors SGIP1 HGNC SGIP1 84251 genome.wustl.edu 37 1 67185048 67185048 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 67185048 67185048 G C SNP SGIP1 ENST00000237247 human ensembl 70_37 +1 known missense c.1795 p.E599Q 1.000 pfam_Muniscin_C-term_mu_dom pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C - no_errors SGIP1 HGNC SGOL2 151246 genome.wustl.edu 37 2 201438500 201438500 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 201438500 201438500 C T SNP SGOL2 ENST00000357799 human ensembl 70_37 +1 known missense c.3431 p.S1144L 0.882 NULL NULL - no_errors SGOL2 HGNC SH2D3A 10045 genome.wustl.edu 37 19 6754258 6754258 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 6754258 6754258 G A SNP SH2D3A ENST00000437152 human ensembl 70_37 -1 novel missense c.910 p.R304C 0.111 NULL superfamily_Ras_GEF_dom - no_errors SH2D3A HGNC SH3BP5 9467 genome.wustl.edu 37 3 15311349 15311349 + Missense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 15311349 15311349 G T SNP SH3BP5 ENST00000383791 human ensembl 70_37 -1 known missense c.366 p.F122L 1.000 pfam_SH3-bd_5 pfam_SH3-bd_5 - no_errors SH3BP5 HGNC SHB 6461 genome.wustl.edu 37 9 37955983 37955983 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 37955983 37955983 G A SNP SHB ENST00000377707 human ensembl 70_37 -1 known missense c.1123 p.R375C 1.000 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SHB HGNC SHISA5 51246 genome.wustl.edu 37 3 48509961 48509961 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 48509961 48509961 C G SNP SHISA5 ENST00000465449 human ensembl 70_37 -1 known rna NULL NULL 0.010 - - - no_errors SHISA5 HGNC SI 6476 genome.wustl.edu 37 3 164700155 164700155 + Missense_Mutation SNP T T A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 164700155 164700155 T A SNP SI ENST00000264382 human ensembl 70_37 -1 known missense c.5291 p.K1764I 0.001 NULL pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors SI HGNC SIGLEC1 6614 genome.wustl.edu 37 20 3684498 3684498 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 3684498 3684498 G A SNP SIGLEC1 ENST00000344754 human ensembl 70_37 -1 known missense c.947 p.S316L 0.035 smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC1 HGNC SIGLEC17P 284367 genome.wustl.edu 37 19 51671124 51671124 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 51671124 51671124 C G SNP SIGLEC17P ENST00000341811 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SIGLEC17P HGNC SIGLEC8 27181 genome.wustl.edu 37 19 51960463 51960463 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 51960463 51960463 C T SNP SIGLEC8 ENST00000321424 human ensembl 70_37 -1 known missense c.756 p.M252I 0.000 pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC8 HGNC SIL1 64374 genome.wustl.edu 37 5 138282845 138282845 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 138282845 138282845 C G SNP SIL1 ENST00000265195 human ensembl 70_37 -1 known silent c.1347 p.L449 1.000 NULL superfamily_ARM-type_fold - no_errors SIL1 HGNC SIPA1L3 23094 genome.wustl.edu 37 19 38684202 38684202 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 38684202 38684202 G A SNP SIPA1L3 ENST00000222345 human ensembl 70_37 +1 known missense c.4622 p.R1541Q 1.000 pfam_DUF3401 pfam_DUF3401,pfam_Rap_GAP,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L3 HGNC SIPA1L3 23094 genome.wustl.edu 37 19 38684216 38684216 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 38684216 38684216 G A SNP SIPA1L3 ENST00000222345 human ensembl 70_37 +1 known missense c.4636 p.E1546K 1.000 pfam_DUF3401 pfam_DUF3401,pfam_Rap_GAP,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L3 HGNC SIRT4 23409 genome.wustl.edu 37 12 120751013 120751013 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 120751013 120751013 C G SNP SIRT4 ENST00000537892 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SIRT4 HGNC SKIV2L2 23517 genome.wustl.edu 37 5 54618187 54618187 + Nonsense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 54618187 54618187 C G SNP SKIV2L2 ENST00000230640 human ensembl 70_37 +1 known nonsense c.167 p.S56* 0.164 pirsf_RNA_helicase_ATP-dep_SK12/DOB1 pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SKIV2L2 HGNC SLC12A7 10723 genome.wustl.edu 37 5 1076263 1076263 + Missense_Mutation SNP A A T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 1076263 1076263 A T SNP SLC12A7 ENST00000264930 human ensembl 70_37 -1 known missense c.1837 p.F613I 0.995 pfam_AA-permease_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A7 HGNC SLC16A5 9121 genome.wustl.edu 37 17 73094242 73094242 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 73094242 73094242 C T SNP SLC16A5 ENST00000329783 human ensembl 70_37 +1 known silent c.309 p.L103 0.604 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A5 HGNC SLC17A9 63910 genome.wustl.edu 37 20 61595652 61595652 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 61595652 61595652 C G SNP SLC17A9 ENST00000370351 human ensembl 70_37 +1 known missense c.895 p.H299D 0.997 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A9 HGNC SLC18B1 116843 genome.wustl.edu 37 6 133111403 133111403 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 133111403 133111403 C G SNP SLC18B1 ENST00000275227 human ensembl 70_37 -1 known missense c.192 p.K64N 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC18B1 HGNC SLC22A16 85413 genome.wustl.edu 37 6 110759974 110759974 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 110759974 110759974 G A SNP SLC22A16 ENST00000368919 human ensembl 70_37 -1 known silent c.1260 p.Y420 0.002 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A16 HGNC SLC22A24 283238 genome.wustl.edu 37 11 62886398 62886398 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 62886398 62886398 G C SNP SLC22A24 ENST00000326192 human ensembl 70_37 -1 known silent c.816 p.L272 0.015 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A24 HGNC SLC22A9 114571 genome.wustl.edu 37 11 63176208 63176208 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 63176208 63176208 C G SNP SLC22A9 ENST00000279178 human ensembl 70_37 +1 known silent c.1458 p.L486 0.476 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A9 HGNC SLC25A14 9016 genome.wustl.edu 37 X 129499593 129499593 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 129499593 129499593 G C SNP SLC25A14 ENST00000339231 human ensembl 70_37 +1 known missense c.882 p.Q294H 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A14 HGNC SLC25A38 54977 genome.wustl.edu 37 3 39433016 39433016 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 39433016 39433016 C G SNP SLC25A38 ENST00000273158 human ensembl 70_37 +1 known missense c.361 p.P121A 0.994 superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A38 HGNC SLC25A42 284439 genome.wustl.edu 37 19 19221580 19221580 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 19221580 19221580 C T SNP SLC25A42 ENST00000318596 human ensembl 70_37 +1 known silent c.852 p.L284 0.994 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Graves_DC pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC - no_errors SLC25A42 HGNC SLC25A52 147407 genome.wustl.edu 37 18 29340254 29340254 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 18 29340254 29340254 G A SNP SLC25A52 ENST00000269205 human ensembl 70_37 -1 known missense c.401 p.A134V 0.997 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A52 HGNC SLC26A1 10861 genome.wustl.edu 37 4 983329 983329 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 983329 983329 C T SNP SLC26A1 ENST00000361661 human ensembl 70_37 -1 known missense c.1398 p.M466I 0.799 pfam_Sulph_transpt,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A1 HGNC SLC29A1 2030 genome.wustl.edu 37 6 44201202 44201202 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 44201202 44201202 C T SNP SLC29A1 ENST00000313248 human ensembl 70_37 +1 known silent c.1545 p.F515 1.000 pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt,tigrfam_Eqnu_transpt pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt,tigrfam_Eqnu_transpt - no_errors SLC29A1 HGNC SLC29A4 222962 genome.wustl.edu 37 7 5327568 5327568 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 5327568 5327568 C G SNP SLC29A4 ENST00000297195 human ensembl 70_37 +1 known missense c.121 p.Q41E 0.078 NULL pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt - no_errors SLC29A4 HGNC SLC29A4 222962 genome.wustl.edu 37 7 5340178 5340178 + Missense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 5340178 5340178 C A SNP SLC29A4 ENST00000297195 human ensembl 70_37 +1 known missense c.1335 p.H445Q 1.000 pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt - no_errors SLC29A4 HGNC SLC38A2 54407 genome.wustl.edu 37 12 46756857 46756857 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 46756857 46756857 G A SNP SLC38A2 ENST00000256689 human ensembl 70_37 -1 known missense c.1126 p.R376C 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A2 HGNC SLC39A7 7922 genome.wustl.edu 37 6 33171909 33171909 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 33171909 33171909 C G SNP SLC39A7 ENST00000463972 human ensembl 70_37 +1 putative rna NULL NULL 0.020 - - - no_errors SLC39A7 HGNC SLC43A1 8501 genome.wustl.edu 37 11 57256402 57256402 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 57256402 57256402 G A SNP SLC43A1 ENST00000278426 human ensembl 70_37 -1 known missense c.1396 p.L466F 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC43A1 HGNC SLC4A10 57282 genome.wustl.edu 37 2 162833298 162833298 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 162833298 162833298 G C SNP SLC4A10 ENST00000446997 human ensembl 70_37 +1 known missense c.3256 p.D1086H 1.000 NULL pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A10 HGNC SLC4A11 83959 genome.wustl.edu 37 20 3214933 3214933 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 3214933 3214933 C G SNP SLC4A11 ENST00000380059 human ensembl 70_37 -1 known missense c.448 p.E150Q 1.000 superfamily_PTrfase/Anion_transptr pfam_HCO3_transpt_C,pfam_PTS_EIIA_2,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk - no_errors SLC4A11 HGNC SLC4A5 57835 genome.wustl.edu 37 2 74486733 74486733 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 74486733 74486733 G A SNP SLC4A5 ENST00000357822 human ensembl 70_37 -1 known silent c.849 p.L283 0.970 pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A5 HGNC SLC5A2 6524 genome.wustl.edu 37 16 31501802 31501802 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 31501802 31501802 C G SNP SLC5A2 ENST00000330498 human ensembl 70_37 +1 known silent c.1965 p.L655 1.000 NULL pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A2 HGNC SLC6A14 11254 genome.wustl.edu 37 X 115582693 115582693 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 115582693 115582693 C G SNP SLC6A14 ENST00000371900 human ensembl 70_37 +1 known missense c.1017 p.F339L 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A14 HGNC SLC9A2 6549 genome.wustl.edu 37 2 103299770 103299770 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 103299770 103299770 C T SNP SLC9A2 ENST00000233969 human ensembl 70_37 +1 known missense c.1055 p.S352F 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_2,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A2 HGNC SLC9A2 6549 genome.wustl.edu 37 2 103318928 103318928 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 103318928 103318928 C G SNP SLC9A2 ENST00000233969 human ensembl 70_37 +1 known silent c.1812 p.L604 0.811 prints_Na/H_exchanger_2,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_2,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A2 HGNC SLC9A6 10479 genome.wustl.edu 37 X 135067841 135067841 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 135067841 135067841 G C SNP SLC9A6 ENST00000370695 human ensembl 70_37 +1 known missense c.180 p.E60D 1.000 prints_Na/H_exchanger_6 pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A6 HGNC SLC9A7P1 121456 genome.wustl.edu 37 12 98850422 98850422 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 98850422 98850422 C G SNP SLC9A7P1 ENST00000554295 human ensembl 70_37 -1 putative rna NULL NULL 1.000 - - - no_errors SLC9A7P1 HGNC SLCO2A1 6578 genome.wustl.edu 37 3 133661572 133661572 + Nonsense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 133661572 133661572 G T SNP SLCO2A1 ENST00000310926 human ensembl 70_37 -1 known nonsense c.1502 p.S501* 0.295 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO2A1 HGNC SLCO2A1 6578 genome.wustl.edu 37 3 133664099 133664099 + Nonsense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 133664099 133664099 G C SNP SLCO2A1 ENST00000310926 human ensembl 70_37 -1 known nonsense c.1301 p.S434* 0.998 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO2A1 HGNC SLIT2 9353 genome.wustl.edu 37 4 20270444 20270444 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 20270444 20270444 G A SNP SLIT2 ENST00000504154 human ensembl 70_37 +1 known missense c.335 p.R112K 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC SLIT3 6586 genome.wustl.edu 37 5 168620515 168620515 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 168620515 168620515 C T SNP SLIT3 ENST00000519560 human ensembl 70_37 -1 known silent c.381 p.L127 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT3 HGNC SLK 9748 genome.wustl.edu 37 10 105727567 105727567 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 105727567 105727567 G A SNP SLK ENST00000369755 human ensembl 70_37 +1 known missense c.64 p.E22K 1.000 superfamily_Kinase-like_dom pfam_PKK,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UVR_dom,pfscan_Prot_kinase_cat_dom - no_errors SLK HGNC SLTM 79811 genome.wustl.edu 37 15 59186369 59186369 + Silent SNP T T C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 59186369 59186369 T C SNP SLTM ENST00000380516 human ensembl 70_37 -1 known silent c.1401 p.K467 1.000 NULL pfam_RRM_dom,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_RRM_dom,pfscan_SAP_DNA-bd,pfscan_RRM_dom - no_errors SLTM HGNC SLU7 10569 genome.wustl.edu 37 5 159842242 159842242 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 159842242 159842242 C T SNP SLU7 ENST00000297151 human ensembl 70_37 -1 known missense c.60 p.M20I 1.000 NULL pfam_Slu7,superfamily_Znf_CCHC - no_errors SLU7 HGNC SMAD2 4087 genome.wustl.edu 37 18 45374926 45374926 + Nonsense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 18 45374926 45374926 G C SNP SMAD2 ENST00000262160 human ensembl 70_37 -1 known nonsense c.917 p.S306* 1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD2 HGNC SMAD5 4090 genome.wustl.edu 37 5 135489845 135489845 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 135489845 135489845 G C SNP SMAD5 ENST00000545279 human ensembl 70_37 +1 known missense c.396 p.E132D 1.000 pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_MAD_homology_MH1 pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD5 HGNC SMC3 9126 genome.wustl.edu 37 10 112343202 112343202 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 112343202 112343202 G C SNP SMC3 ENST00000361804 human ensembl 70_37 +1 known missense c.865 p.E289Q 1.000 pfam_RecF/RecN/SMC pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC3 HGNC SMCHD1 23347 genome.wustl.edu 37 18 2674066 2674066 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 18 2674066 2674066 G C SNP SMCHD1 ENST00000320876 human ensembl 70_37 +1 known missense c.560 p.R187T 1.000 superfamily_ATPase-like_ATP-bd pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_ATPase-like_ATP-bd,smart_SMC_hinge - no_errors SMCHD1 HGNC SMOX 54498 genome.wustl.edu 37 20 4162935 4162935 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 4162935 4162935 C T SNP SMOX ENST00000305958 human ensembl 70_37 +1 known missense c.809 p.S270L 0.923 NULL pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom - no_errors SMOX HGNC SMPD4 55627 genome.wustl.edu 37 2 130910714 130910714 + Nonsense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 130910714 130910714 C A SNP SMPD4 ENST00000409031 human ensembl 70_37 -1 known nonsense c.2173 p.E725* 0.996 NULL NULL - no_errors SMPD4 HGNC SMPDL3A 10924 genome.wustl.edu 37 6 123130433 123130433 + Silent SNP T T C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 123130433 123130433 T C SNP SMPDL3A ENST00000368440 human ensembl 70_37 +1 known silent c.1242 p.Y414 1.000 pirsf_ASM-like_Pdiesterase_prd pfam_Metallo_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd - no_errors SMPDL3A HGNC SMU1 55234 genome.wustl.edu 37 9 33073633 33073633 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 33073633 33073633 C T SNP SMU1 ENST00000397149 human ensembl 70_37 -1 known silent c.198 p.L66 1.000 smart_CTLH_C,pfscan_CTLH_C pfam_WD40_repeat,pfam_Nucleoporin_Nup160,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors SMU1 HGNC SNAP23 8773 genome.wustl.edu 37 15 42805600 42805600 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 42805600 42805600 C G SNP SNAP23 ENST00000249647 human ensembl 70_37 +1 known missense c.103 p.Q35E 1.000 smart_T_SNARE_dom,pfscan_T_SNARE_dom pfam_T_SNARE_dom,pfam_SNAP-25,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors SNAP23 HGNC SNHG14 0 genome.wustl.edu 37 15 25438641 25438641 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 25438641 25438641 G C SNP SNHG14 ENST00000456576 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors SNHG14 HGNC SNORD113-1 767561 genome.wustl.edu 37 14 101391163 101391163 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 101391163 101391163 G A SNP SNORD113-1 ENST00000365321 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SNORD113-1 HGNC SNORD116-8 100033420 genome.wustl.edu 37 15 25315632 25315632 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 25315632 25315632 G C SNP SNORD116-8 ENST00000384365 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SNORD116-8 HGNC SNORD57 26792 genome.wustl.edu 37 20 2637610 2637610 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 2637610 2637610 G C SNP SNORD57 ENST00000384532 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SNORD57 RFAM SNTB2 6645 genome.wustl.edu 37 16 69318079 69318079 + Nonsense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 69318079 69318079 C A SNP SNTB2 ENST00000336278 human ensembl 70_37 +1 known nonsense c.1277 p.S426* 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTB2 HGNC SNX1 6642 genome.wustl.edu 37 15 64388288 64388288 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 64388288 64388288 G C SNP SNX1 ENST00000559844 human ensembl 70_37 +1 known missense c.76 p.E26Q 1.000 pfam_Sorting_nexin_N pfam_Vps5_C,pfam_Sorting_nexin_N,pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX1 HGNC SNX13 23161 genome.wustl.edu 37 7 17836561 17836561 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 17836561 17836561 C T SNP SNX13 ENST00000428135 human ensembl 70_37 -1 novel missense c.2515 p.D839N 1.000 pfam_Sorting_nexin_C pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,superfamily_Cyt_c_oxidase_su5A/6,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal - no_errors SNX13 HGNC SNX25 83891 genome.wustl.edu 37 4 186284652 186284652 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 186284652 186284652 G A SNP SNX25 ENST00000512853 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SNX25 HGNC SOAT2 8435 genome.wustl.edu 37 12 53514592 53514592 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 53514592 53514592 C G SNP SOAT2 ENST00000301466 human ensembl 70_37 +1 known missense c.1062 p.I354M 0.992 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors SOAT2 HGNC SOCS3 9021 genome.wustl.edu 37 17 76354826 76354826 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 76354826 76354826 G A SNP SOCS3 ENST00000330871 human ensembl 70_37 -1 known silent c.351 p.F117 0.988 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SH2,pfam_SOCS_C,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS3 HGNC SORBS1 10580 genome.wustl.edu 37 10 97131130 97131130 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 97131130 97131130 C G SNP SORBS1 ENST00000361941 human ensembl 70_37 -1 known missense c.1858 p.E620Q 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain - no_errors SORBS1 HGNC SORCS2 57537 genome.wustl.edu 37 4 7705979 7705979 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 7705979 7705979 G C SNP SORCS2 ENST00000507866 human ensembl 70_37 +1 known silent c.1836 p.L612 0.997 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_errors SORCS2 HGNC SOS2 6655 genome.wustl.edu 37 14 50605450 50605450 + Missense_Mutation SNP T T A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 50605450 50605450 T A SNP SOS2 ENST00000216373 human ensembl 70_37 -1 known missense c.2838 p.L946F 0.999 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS2 HGNC SOS2 6655 genome.wustl.edu 37 14 50666501 50666501 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 50666501 50666501 C G SNP SOS2 ENST00000216373 human ensembl 70_37 -1 known missense c.418 p.D140H 1.000 pfam_Histone_core_D,superfamily_Histone-fold pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS2 HGNC SOX2 6657 genome.wustl.edu 37 3 181430398 181430398 + Nonsense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 181430398 181430398 G T SNP SOX2 ENST00000325404 human ensembl 70_37 +1 known nonsense c.250 p.E84* 1.000 pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily pfam_TF_SOX,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX2 HGNC SP1 6667 genome.wustl.edu 37 12 53803156 53803156 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 53803156 53803156 G C SNP SP1 ENST00000327443 human ensembl 70_37 +1 known missense c.1855 p.D619H 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP1 HGNC SP4 6671 genome.wustl.edu 37 7 21469217 21469217 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 21469217 21469217 C G SNP SP4 ENST00000222584 human ensembl 70_37 +1 known missense c.434 p.S145C 0.998 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP4 HGNC SPAG17 200162 genome.wustl.edu 37 1 118514412 118514412 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 118514412 118514412 G A SNP SPAG17 ENST00000492438 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors SPAG17 HGNC SPATA13 221178 genome.wustl.edu 37 13 24797596 24797596 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 24797596 24797596 G C SNP SPATA13 ENST00000382108 human ensembl 70_37 +1 known missense c.529 p.E177Q 0.012 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors SPATA13 HGNC SPATA5 166378 genome.wustl.edu 37 4 123868526 123868526 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 123868526 123868526 C T SNP SPATA5 ENST00000274008 human ensembl 70_37 +1 known missense c.1597 p.L533F 0.999 NULL pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_Asp_de-COase-like_fold,smart_AAA+_ATPase - no_errors SPATA5 HGNC SPDL1 54908 genome.wustl.edu 37 5 169028292 169028292 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 169028292 169028292 G A SNP SPDL1 ENST00000265295 human ensembl 70_37 +1 known missense c.1333 p.E445K 0.137 NULL NULL - no_errors SPDL1 HGNC SPECC1L 23384 genome.wustl.edu 37 22 24765209 24765209 + Nonsense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 24765209 24765209 C G SNP SPECC1L ENST00000314328 human ensembl 70_37 +1 known nonsense c.3008 p.S1003* 0.999 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_HLH_dom,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1L HGNC SPEN 23013 genome.wustl.edu 37 1 16237768 16237768 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 16237768 16237768 G C SNP SPEN ENST00000375759 human ensembl 70_37 +1 known missense c.1215 p.Q405H 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC SPEN 23013 genome.wustl.edu 37 1 16260296 16260296 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 16260296 16260296 G C SNP SPEN ENST00000375759 human ensembl 70_37 +1 known missense c.7561 p.D2521H 1.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC SPG20 23111 genome.wustl.edu 37 13 36878517 36878517 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 36878517 36878517 C T SNP SPG20 ENST00000355182 human ensembl 70_37 -1 known silent c.1986 p.K662 0.304 NULL pfam_Senescence/spartin,pfam_MIT,smart_MIT - no_errors SPG20 HGNC SPIRE2 84501 genome.wustl.edu 37 16 89922592 89922592 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 89922592 89922592 C G SNP SPIRE2 ENST00000378247 human ensembl 70_37 +1 known missense c.1050 p.I350M 1.000 NULL superfamily_Znf_FYVE_PHD,smart_KIND - no_errors SPIRE2 HGNC SPIRE2 84501 genome.wustl.edu 37 16 89925647 89925647 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 89925647 89925647 C G SNP SPIRE2 ENST00000378247 human ensembl 70_37 +1 known silent c.1347 p.L449 0.743 NULL superfamily_Znf_FYVE_PHD,smart_KIND - no_errors SPIRE2 HGNC SPNS1 83985 genome.wustl.edu 37 16 28993737 28993737 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 28993737 28993737 G C SNP SPNS1 ENST00000311008 human ensembl 70_37 +1 known missense c.1026 p.E342D 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SPNS1 HGNC SREK1 140890 genome.wustl.edu 37 5 65458257 65458257 + Missense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 65458257 65458257 C A SNP SREK1 ENST00000334121 human ensembl 70_37 +1 known missense c.592 p.Q198K 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SREK1 HGNC SRGAP1 57522 genome.wustl.edu 37 12 64505618 64505618 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 64505618 64505618 G A SNP SRGAP1 ENST00000355086 human ensembl 70_37 +1 known missense c.1996 p.V666I 0.997 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP1 HGNC SRP68 6730 genome.wustl.edu 37 17 74053615 74053615 + Missense_Mutation SNP T T C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 74053615 74053615 T C SNP SRP68 ENST00000307877 human ensembl 70_37 -1 known missense c.847 p.T283A 1.000 NULL NULL - no_errors SRP68 HGNC SRPK1 6732 genome.wustl.edu 37 6 35806520 35806520 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 35806520 35806520 G A SNP SRPK1 ENST00000373822 human ensembl 70_37 -1 known silent c.1422 p.L474 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors SRPK1 HGNC SRPK2 6733 genome.wustl.edu 37 7 104783727 104783727 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 104783727 104783727 C T SNP SRPK2 ENST00000393651 human ensembl 70_37 -1 known silent c.864 p.K288 1.000 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors SRPK2 HGNC SRRM2 23524 genome.wustl.edu 37 16 2812362 2812362 + Silent SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 2812362 2812362 G T SNP SRRM2 ENST00000301740 human ensembl 70_37 +1 known silent c.1833 p.R611 0.013 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC SRSF11 9295 genome.wustl.edu 37 1 70694277 70694277 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 70694277 70694277 G A SNP SRSF11 ENST00000463877 human ensembl 70_37 +1 known rna NULL NULL 0.962 - - - no_errors SRSF11 HGNC SRSF12 135295 genome.wustl.edu 37 6 89808380 89808380 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 89808380 89808380 C T SNP SRSF12 ENST00000452027 human ensembl 70_37 -1 known missense c.703 p.E235K 0.859 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF12 HGNC SSPO 23145 genome.wustl.edu 37 7 149519678 149519678 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 149519678 149519678 C T SNP SSPO ENST00000378016 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SSPO HGNC SSR2 6746 genome.wustl.edu 37 1 155989846 155989846 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 155989846 155989846 C T SNP SSR2 ENST00000295702 human ensembl 70_37 -1 known missense c.113 p.R38Q 0.651 pfam_TRAP_beta,pirsf_TRAP_beta pfam_TRAP_beta,pirsf_TRAP_beta - no_errors SSR2 HGNC ST6GALNAC2 10610 genome.wustl.edu 37 17 74569410 74569410 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 74569410 74569410 C G SNP ST6GALNAC2 ENST00000225276 human ensembl 70_37 -1 known missense c.397 p.E133Q 0.591 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST6GALNAC2 HGNC ST7 7982 genome.wustl.edu 37 7 116862962 116862962 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 116862962 116862962 G A SNP ST7 ENST00000265437 human ensembl 70_37 +1 known silent c.1686 p.K562 0.965 pfam_ST7 pfam_ST7 - no_errors ST7 HGNC ST7-OT4 338069 genome.wustl.edu 37 7 116595149 116595149 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 116595149 116595149 C T SNP ST7-OT4 ENST00000397750 human ensembl 70_37 +1 putative missense c.11 p.S4L 0.000 NULL NULL - no_errors ST7-OT4 HGNC STAM 8027 genome.wustl.edu 37 10 17738856 17738856 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 17738856 17738856 G A SNP STAM ENST00000377524 human ensembl 70_37 +1 known missense c.811 p.E271K 1.000 superfamily_SH3_domain pfam_VHS,pfam_SH3_domain,pfam_SH3_2,pfam_Ubiquitin-int_motif,superfamily_ENTH_VHS,superfamily_SH3_domain,smart_VHS_subgr,smart_SH3_domain,pfscan_SH3_domain,pfscan_Ubiquitin-int_motif,pfscan_VHS,prints_SH3_domain,prints_p67phox - no_errors STAM HGNC STAP2 55620 genome.wustl.edu 37 19 4328763 4328763 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 4328763 4328763 C G SNP STAP2 ENST00000314714 human ensembl 70_37 -1 known missense c.499 p.E167Q 1.000 pfscan_SH2 pfscan_SH2 - no_errors STAP2 HGNC STMN1 3925 genome.wustl.edu 37 1 26227541 26227541 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 26227541 26227541 G C SNP STMN1 ENST00000357865 human ensembl 70_37 -1 known missense c.416 p.S139C 1.000 pfam_Stathmin_fam,superfamily_Stathmin_fam,pirsf_Stathmin_fam pfam_Stathmin_fam,superfamily_Stathmin_fam,pirsf_Stathmin_fam,prints_Stathmin_fam - no_errors STMN1 HGNC STMN4 81551 genome.wustl.edu 37 8 27097546 27097546 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 27097546 27097546 G C SNP STMN4 ENST00000350889 human ensembl 70_37 -1 known missense c.533 p.S178C 1.000 pfam_Stathmin_fam,superfamily_Stathmin_fam,pirsf_Stathmin_fam,prints_Stathmin_fam pfam_Stathmin_fam,superfamily_Stathmin_fam,pirsf_Stathmin_fam,prints_Stathmin_fam - no_errors STMN4 HGNC STOX2 56977 genome.wustl.edu 37 4 184931890 184931890 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 184931890 184931890 G A SNP STOX2 ENST00000308497 human ensembl 70_37 +1 known silent c.1899 p.V633 0.995 NULL pfam_Storkhead-box_winged-helix - no_errors STOX2 HGNC STPG1 90529 genome.wustl.edu 37 1 24684860 24684860 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 24684860 24684860 C T SNP STPG1 ENST00000468303 human ensembl 70_37 -1 known rna NULL NULL 0.006 - - - no_errors STPG1 HGNC STRAP 11171 genome.wustl.edu 37 12 16052915 16052915 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 16052915 16052915 G C SNP STRAP ENST00000025399 human ensembl 70_37 +1 known missense c.892 p.E298Q 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors STRAP HGNC STXBP1 6812 genome.wustl.edu 37 9 130438193 130438193 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 130438193 130438193 C T SNP STXBP1 ENST00000373299 human ensembl 70_37 +1 known silent c.1221 p.I407 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors STXBP1 HGNC STXBP1 6812 genome.wustl.edu 37 9 130438202 130438202 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 130438202 130438202 C G SNP STXBP1 ENST00000373299 human ensembl 70_37 +1 known silent c.1230 p.L410 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors STXBP1 HGNC STXBP3 6814 genome.wustl.edu 37 1 109350080 109350080 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 109350080 109350080 G A SNP STXBP3 ENST00000370008 human ensembl 70_37 +1 known silent c.1593 p.L531 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors STXBP3 HGNC SULF2 55959 genome.wustl.edu 37 20 46290231 46290231 + RNA SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 46290231 46290231 G T SNP SULF2 ENST00000433632 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SULF2 HGNC SUN1 23353 genome.wustl.edu 37 7 909082 909082 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 909082 909082 C G SNP SUN1 ENST00000456758 human ensembl 70_37 +1 known missense c.2644 p.L882V 0.000 pfam_Sad1_UNC_C pfam_RNA-bd_mt,pfam_Sad1_UNC_C - no_errors SUN1 HGNC SUOX 6821 genome.wustl.edu 37 12 56398056 56398056 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 56398056 56398056 G A SNP SUOX ENST00000266971 human ensembl 70_37 +1 known missense c.883 p.G295R 1.000 pfam_OxRdtase_Mopterin-bd_dom,superfamily_OxRdtase_Mopterin-bd_dom,prints_Mopterin_OxRdtase_euk pfam_OxRdtase_Mopterin-bd_dom,pfam_MoCF_OxRdtse_dimer,pfam_Cyt_B5,superfamily_OxRdtase_Mopterin-bd_dom,superfamily_Ig_E-set,superfamily_Cyt_B5,pfscan_Cyt_B5,prints_Mopterin_OxRdtase_euk,prints_Cyt_B5 - no_errors SUOX HGNC SUOX 6821 genome.wustl.edu 37 12 56398437 56398437 + Nonsense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 56398437 56398437 G T SNP SUOX ENST00000266971 human ensembl 70_37 +1 known nonsense c.1264 p.E422* 1.000 pfam_MoCF_OxRdtse_dimer,superfamily_Ig_E-set,prints_Mopterin_OxRdtase_euk pfam_OxRdtase_Mopterin-bd_dom,pfam_MoCF_OxRdtse_dimer,pfam_Cyt_B5,superfamily_OxRdtase_Mopterin-bd_dom,superfamily_Ig_E-set,superfamily_Cyt_B5,pfscan_Cyt_B5,prints_Mopterin_OxRdtase_euk,prints_Cyt_B5 - no_errors SUOX HGNC SUSD3 203328 genome.wustl.edu 37 9 95838224 95838224 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 95838224 95838224 G C SNP SUSD3 ENST00000375472 human ensembl 70_37 +1 known missense c.247 p.E83Q 0.009 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors SUSD3 HGNC SV2C 22987 genome.wustl.edu 37 5 75621353 75621353 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 75621353 75621353 G A SNP SV2C ENST00000502798 human ensembl 70_37 +1 known missense c.2165 p.R722Q 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata - no_errors SV2C HGNC SVEP1 79987 genome.wustl.edu 37 9 113149654 113149654 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 113149654 113149654 G A SNP SVEP1 ENST00000401783 human ensembl 70_37 -1 known missense c.9971 p.S3324F 0.998 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC SVEP1 79987 genome.wustl.edu 37 9 113217957 113217957 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 113217957 113217957 C G SNP SVEP1 ENST00000401783 human ensembl 70_37 -1 known missense c.3700 p.E1234Q 1.000 smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC SVOPL 136306 genome.wustl.edu 37 7 138341201 138341201 + Silent SNP A A G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 138341201 138341201 A G SNP SVOPL ENST00000419765 human ensembl 70_37 -1 known silent c.526 p.L176 1.000 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SVOPL HGNC SYDE1 85360 genome.wustl.edu 37 19 15219962 15219962 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 15219962 15219962 G A SNP SYDE1 ENST00000342784 human ensembl 70_37 +1 known missense c.184 p.E62K 0.862 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors SYDE1 HGNC SYN3 8224 genome.wustl.edu 37 22 32909744 32909744 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 32909744 32909744 C G SNP SYN3 ENST00000332840 human ensembl 70_37 -1 known missense c.1678 p.D560H 1.000 NULL pfam_Synapsin_ATP-bd_dom,pfam_Synapsin_pre-ATP-grasp_dom,pfam_Synapsin_P_site,pfam_ATP-grasp_RimK-type,superfamily_PreATP-grasp_fold,prints_Synapsin - no_errors SYN3 HGNC SYNE1 23345 genome.wustl.edu 37 6 152570389 152570389 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 152570389 152570389 C G SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known silent c.19479 p.L6493 1.000 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC SYNE1 23345 genome.wustl.edu 37 6 152765605 152765605 + Nonsense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 152765605 152765605 C A SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known nonsense c.3778 p.E1260* 0.991 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC SYNE1 23345 genome.wustl.edu 37 6 152831344 152831344 + Missense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 152831344 152831344 G T SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known missense c.565 p.Q189K 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC SYNE2 23224 genome.wustl.edu 37 14 64408787 64408787 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 64408787 64408787 C T SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.334 p.H112Y 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC SYNE3 161176 genome.wustl.edu 37 14 95932321 95932321 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 95932321 95932321 C G SNP SYNE3 ENST00000334258 human ensembl 70_37 -1 known missense c.574 p.D192H 0.097 NULL pfam_KASH,pfam_Spectrin_repeat,superfamily_Retrov_capsid_C,smart_Spectrin/alpha-actinin,pfscan_KASH - no_errors SYNE3 HGNC SYNJ1 8867 genome.wustl.edu 37 21 34099122 34099122 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 21 34099122 34099122 C G SNP SYNJ1 ENST00000433931 human ensembl 70_37 -1 known missense c.202 p.E68Q 1.000 NULL pfam_Syja_N,pfam_Endo/exonuclease/phosphatase,pfam_DUF1866,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ1 HGNC SYNPO 11346 genome.wustl.edu 37 5 150029366 150029366 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 150029366 150029366 C T SNP SYNPO ENST00000394243 human ensembl 70_37 +1 known missense c.2261 p.S754L 0.999 NULL NULL - no_errors SYNPO HGNC SYPL1 6856 genome.wustl.edu 37 7 105739677 105739677 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 105739677 105739677 C T SNP SYPL1 ENST00000011473 human ensembl 70_37 -1 known missense c.175 p.E59K 0.909 pfam_MARVEL-like_dom pfam_MARVEL-like_dom,prints_Synaptophysin/porin - no_errors SYPL1 HGNC SYT3 84258 genome.wustl.edu 37 19 51132706 51132706 + Nonsense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 51132706 51132706 C A SNP SYT3 ENST00000338916 human ensembl 70_37 -1 known nonsense c.1126 p.E376* 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom - no_errors SYT3 HGNC SYT7 9066 genome.wustl.edu 37 11 61323615 61323615 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 61323615 61323615 G A SNP SYT7 ENST00000263846 human ensembl 70_37 -1 known silent c.96 p.V32 0.999 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom - no_errors SYT7 HGNC SYTL2 54843 genome.wustl.edu 37 11 85435827 85435827 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 85435827 85435827 G A SNP SYTL2 ENST00000359152 human ensembl 70_37 -1 known missense c.3245 p.P1082L 0.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors SYTL2 HGNC TADA2B 93624 genome.wustl.edu 37 4 7045552 7045552 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 7045552 7045552 C G SNP TADA2B ENST00000310074 human ensembl 70_37 +1 known missense c.246 p.I82M 1.000 pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Myb-like_dom pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_Znf_ZZ,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Znf_ZZ,pfscan_Myb-like_dom - no_errors TADA2B HGNC TAF3 83860 genome.wustl.edu 37 10 7860774 7860774 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 7860774 7860774 C G SNP TAF3 ENST00000344293 human ensembl 70_37 +1 known silent c.102 p.L34 1.000 pfam_BTP,superfamily_Histone-fold,smart_BTP pfam_BTP,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Histone-fold,smart_BTP,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors TAF3 HGNC TAF3 83860 genome.wustl.edu 37 10 8006327 8006327 + Nonsense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 8006327 8006327 C G SNP TAF3 ENST00000344293 human ensembl 70_37 +1 known nonsense c.854 p.S285* 1.000 NULL pfam_BTP,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Histone-fold,smart_BTP,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors TAF3 HGNC TANC1 85461 genome.wustl.edu 37 2 160086342 160086342 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 160086342 160086342 G C SNP TANC1 ENST00000263635 human ensembl 70_37 +1 known missense c.4405 p.E1469Q 0.970 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC1 HGNC TANC2 26115 genome.wustl.edu 37 17 61432197 61432197 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 61432197 61432197 G C SNP TANC2 ENST00000424789 human ensembl 70_37 +1 known missense c.1806 p.E602D 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC2 HGNC TAOK2 9344 genome.wustl.edu 37 16 29990151 29990151 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 29990151 29990151 C G SNP TAOK2 ENST00000308893 human ensembl 70_37 +1 known missense c.338 p.S113C 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TAOK2 HGNC TBC1D10B 26000 genome.wustl.edu 37 16 30381122 30381122 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 30381122 30381122 G C SNP TBC1D10B ENST00000409939 human ensembl 70_37 -1 known missense c.383 p.A128G 0.003 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D10B HGNC TBC1D10C 374403 genome.wustl.edu 37 11 67173162 67173162 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 67173162 67173162 C G SNP TBC1D10C ENST00000312390 human ensembl 70_37 +1 known missense c.457 p.Q153E 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D10C HGNC TBC1D14 57533 genome.wustl.edu 37 4 6925609 6925609 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 6925609 6925609 G A SNP TBC1D14 ENST00000409757 human ensembl 70_37 +1 known missense c.493 p.E165K 0.999 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D14 HGNC TBL3 10607 genome.wustl.edu 37 16 2024380 2024380 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 2024380 2024380 G A SNP TBL3 ENST00000568546 human ensembl 70_37 +1 known missense c.193 p.D65N 1.000 smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_SSU_processome_Utp13,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL3 HGNC TCAM1P 146771 genome.wustl.edu 37 17 61939783 61939783 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 61939783 61939783 G C SNP TCAM1P ENST00000478379 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TCAM1P HGNC TCAM1P 146771 genome.wustl.edu 37 17 61940093 61940093 + RNA SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 61940093 61940093 G T SNP TCAM1P ENST00000478379 human ensembl 70_37 +1 known rna NULL NULL 0.041 - - - no_errors TCAM1P HGNC TCF25 22980 genome.wustl.edu 37 16 89977541 89977541 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 89977541 89977541 G C SNP TCF25 ENST00000263347 human ensembl 70_37 +1 known missense c.1339 p.E447Q 1.000 NULL pfam_TCF25 - no_errors TCF25 HGNC TCF25 22980 genome.wustl.edu 37 16 89977645 89977645 + Nonstop_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 89977645 89977645 G C SNP TCF25 ENST00000263346 human ensembl 70_37 +1 known nonstop c.2030 p.*677S 1.000 NULL pfam_TCF25 - no_errors TCF25 HGNC TCF7L2 6934 genome.wustl.edu 37 10 114910865 114910865 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 114910865 114910865 C T SNP TCF7L2 ENST00000355995 human ensembl 70_37 +1 known silent c.984 p.V328 0.998 NULL pfam_CTNNB1-bd_N,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors TCF7L2 HGNC TCHH 7062 genome.wustl.edu 37 1 152081930 152081930 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 152081930 152081930 C G SNP TCHH ENST00000368804 human ensembl 70_37 -1 known missense c.3763 p.D1255H 0.001 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors TCHH HGNC TCHH 7062 genome.wustl.edu 37 1 152085374 152085374 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 152085374 152085374 C G SNP TCHH ENST00000368804 human ensembl 70_37 -1 known missense c.319 p.E107Q 0.317 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors TCHH HGNC TCOF1 6949 genome.wustl.edu 37 5 149767590 149767590 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 149767590 149767590 G C SNP TCOF1 ENST00000451292 human ensembl 70_37 +1 known missense c.3096 p.R1032S 0.485 NULL pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS - no_errors TCOF1 HGNC TCOF1 6949 genome.wustl.edu 37 5 149767615 149767615 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 149767615 149767615 G A SNP TCOF1 ENST00000451292 human ensembl 70_37 +1 known missense c.3121 p.E1041K 1.000 NULL pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS - no_errors TCOF1 HGNC TCOF1 6949 genome.wustl.edu 37 5 149769569 149769569 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 149769569 149769569 G A SNP TCOF1 ENST00000451292 human ensembl 70_37 +1 known missense c.3277 p.E1093K 0.740 NULL pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS - no_errors TCOF1 HGNC TCP11L2 255394 genome.wustl.edu 37 12 106729840 106729840 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 106729840 106729840 G A SNP TCP11L2 ENST00000299045 human ensembl 70_37 +1 known missense c.991 p.E331K 1.000 pfam_Tcp11 pfam_Tcp11 - no_errors TCP11L2 HGNC TCTN1 79600 genome.wustl.edu 37 12 111078937 111078937 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 111078937 111078937 G C SNP TCTN1 ENST00000397659 human ensembl 70_37 +1 known missense c.1087 p.E363Q 0.996 pfam_DUF1619 pfam_DUF1619 - no_errors TCTN1 HGNC TDRD10 126668 genome.wustl.edu 37 1 154516547 154516547 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 154516547 154516547 C T SNP TDRD10 ENST00000368480 human ensembl 70_37 +1 known silent c.612 p.V204 0.000 pfam_Tudor pfam_Tudor,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TDRD10 HGNC TDRD6 221400 genome.wustl.edu 37 6 46657383 46657383 + Missense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 46657383 46657383 G T SNP TDRD6 ENST00000316081 human ensembl 70_37 +1 known missense c.1518 p.L506F 0.930 pfam_Tudor pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC TEKT1 83659 genome.wustl.edu 37 17 6718600 6718600 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 6718600 6718600 G C SNP TEKT1 ENST00000338694 human ensembl 70_37 -1 known missense c.511 p.L171V 0.993 pfam_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT1 HGNC TENC1 23371 genome.wustl.edu 37 12 53454751 53454751 + Nonsense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 53454751 53454751 C T SNP TENC1 ENST00000314276 human ensembl 70_37 +1 known nonsense c.3091 p.R1031* 0.788 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TENC1 HGNC TENM1 10178 genome.wustl.edu 37 X 124029919 124029919 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 124029919 124029919 G A SNP TENM1 ENST00000422452 human ensembl 70_37 -1 known missense c.389 p.S130L 1.000 pfam_Ten_N pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC TES 26136 genome.wustl.edu 37 7 115892027 115892027 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 115892027 115892027 G A SNP TES ENST00000358204 human ensembl 70_37 +1 known missense c.916 p.E306K 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors TES HGNC TET3 200424 genome.wustl.edu 37 2 74274014 74274014 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 74274014 74274014 C T SNP TET3 ENST00000409262 human ensembl 70_37 +1 known missense c.565 p.L189F 0.872 NULL NULL - no_errors TET3 HGNC TET3 200424 genome.wustl.edu 37 2 74320052 74320052 + Missense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 74320052 74320052 C A SNP TET3 ENST00000409262 human ensembl 70_37 +1 known missense c.2658 p.F886L 1.000 NULL NULL - no_errors TET3 HGNC TFCP2L1 29842 genome.wustl.edu 37 2 122007206 122007206 + Nonsense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 122007206 122007206 G A SNP TFCP2L1 ENST00000263707 human ensembl 70_37 -1 known nonsense c.232 p.R78* 1.000 pfam_CP2 pfam_CP2,superfamily_SAM/pointed - no_errors TFCP2L1 HGNC TGM3 7053 genome.wustl.edu 37 20 2297832 2297832 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 2297832 2297832 C T SNP TGM3 ENST00000381458 human ensembl 70_37 +1 known missense c.788 p.S263F 0.016 NULL pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM3 HGNC THSD7A 221981 genome.wustl.edu 37 7 11486868 11486868 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 11486868 11486868 C T SNP THSD7A ENST00000423059 human ensembl 70_37 -1 known missense c.2789 p.R930H 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC THSD7B 80731 genome.wustl.edu 37 2 138375966 138375966 + Nonsense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 138375966 138375966 G A SNP THSD7B ENST00000272643 human ensembl 70_37 +1 known nonsense c.3579 p.W1193* 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC TIAL1 7073 genome.wustl.edu 37 10 121342023 121342023 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 121342023 121342023 C G SNP TIAL1 ENST00000369093 human ensembl 70_37 -1 known missense c.227 p.R76T 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors TIAL1 HGNC TIAM2 26230 genome.wustl.edu 37 6 155575620 155575620 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 155575620 155575620 C T SNP TIAM2 ENST00000456144 human ensembl 70_37 +1 known missense c.4468 p.H1490Y 0.999 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM2 HGNC TIMELESS 8914 genome.wustl.edu 37 12 56817142 56817142 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 56817142 56817142 G C SNP TIMELESS ENST00000553532 human ensembl 70_37 -1 known silent c.2208 p.L736 1.000 pfam_TIMELESS_C pfam_TIMELESS_C,pfam_Timeless - no_errors TIMELESS HGNC TJP2 9414 genome.wustl.edu 37 9 71844105 71844105 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 71844105 71844105 C G SNP TJP2 ENST00000539225 human ensembl 70_37 +1 known missense c.1552 p.Q518E 1.000 NULL pfam_PDZ,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin,prints_ZonOcculS2,prints_ZonOcculdens - no_errors TJP2 HGNC TKTL2 84076 genome.wustl.edu 37 4 164393645 164393645 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 164393645 164393645 G A SNP TKTL2 ENST00000280605 human ensembl 70_37 -1 known silent c.1242 p.I414 1.000 pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors TKTL2 HGNC TLE2 7089 genome.wustl.edu 37 19 3015661 3015661 + Nonsense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 3015661 3015661 G C SNP TLE2 ENST00000262953 human ensembl 70_37 -1 known nonsense c.668 p.S223* 0.001 NULL pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE2 HGNC TLE4 7091 genome.wustl.edu 37 9 82323635 82323635 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 82323635 82323635 C G SNP TLE4 ENST00000376520 human ensembl 70_37 +1 known missense c.1293 p.I431M 1.000 NULL pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE4 HGNC TLE6 79816 genome.wustl.edu 37 19 2988095 2988095 + Missense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 2988095 2988095 C A SNP TLE6 ENST00000246112 human ensembl 70_37 +1 known missense c.709 p.P237T 0.003 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE6 HGNC TLN1 7094 genome.wustl.edu 37 9 35704813 35704813 + Splice_Site SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 35704813 35704813 C G SNP TLN1 ENST00000314888 human ensembl 70_37 -1 known splice_site c.5734-1 e43-1 1.000 - - - no_errors TLN1 HGNC TLR4 7099 genome.wustl.edu 37 9 120475262 120475262 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 120475262 120475262 G A SNP TLR4 ENST00000355622 human ensembl 70_37 +1 known missense c.856 p.E286K 0.020 pirsf_Toll-like_receptor pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR4 HGNC TLR9 54106 genome.wustl.edu 37 3 52255789 52255789 + Missense_Mutation SNP T T A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 52255789 52255789 T A SNP TLR9 ENST00000597542 human ensembl 70_37 -1 known missense c.2615 p.H872L 0.998 NULL pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR9 HGNC TM2D3 80213 genome.wustl.edu 37 15 102191956 102191956 + Nonsense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 102191956 102191956 G A SNP TM2D3 ENST00000333202 human ensembl 70_37 -1 known nonsense c.112 p.Q38* 0.255 NULL pfam_TM2 - no_errors TM2D3 HGNC TM4SF19-AS1 100874214 genome.wustl.edu 37 3 196051385 196051385 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 196051385 196051385 G A SNP TM4SF19-AS1 ENST00000452051 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TM4SF19-AS1 HGNC TM6SF1 53346 genome.wustl.edu 37 15 83776462 83776462 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 83776462 83776462 C T SNP TM6SF1 ENST00000379386 human ensembl 70_37 +1 known silent c.30 p.F10 1.000 NULL pfam_Transmembrane_6/97 - no_errors TM6SF1 HGNC TM7SF2 7108 genome.wustl.edu 37 11 64882211 64882211 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 64882211 64882211 G C SNP TM7SF2 ENST00000279263 human ensembl 70_37 +1 known missense c.630 p.M210I 0.952 pfam_Ergosterol_biosynth_ERG4_ERG24 pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_DUF1295 - no_errors TM7SF2 HGNC TMBIM4 51643 genome.wustl.edu 37 12 66547223 66547223 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 66547223 66547223 G C SNP TMBIM4 ENST00000358230 human ensembl 70_37 -1 known missense c.103 p.L35V 1.000 pfam_Bax_inhibitor_1-related pfam_Bax_inhibitor_1-related - no_errors TMBIM4 HGNC TMC4 147798 genome.wustl.edu 37 19 54664722 54664722 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 54664722 54664722 G A SNP TMC4 ENST00000301187 human ensembl 70_37 -1 known silent c.1866 p.I622 1.000 NULL pfam_TMC - no_errors TMC4 HGNC TMCO6 55374 genome.wustl.edu 37 5 140023709 140023709 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 140023709 140023709 C G SNP TMCO6 ENST00000252100 human ensembl 70_37 +1 known missense c.1148 p.S383C 0.991 superfamily_ARM-type_fold,smart_Armadillo superfamily_ARM-type_fold,smart_Armadillo,pfscan_Importin-a_IBB - no_errors TMCO6 HGNC TMEM131 23505 genome.wustl.edu 37 2 98426211 98426211 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 98426211 98426211 C T SNP TMEM131 ENST00000186436 human ensembl 70_37 -1 known silent c.1995 p.V665 0.994 pfam_DUF3651_TMEM131 pfam_DUF3651_TMEM131 - no_errors TMEM131 HGNC TMEM190 147744 genome.wustl.edu 37 19 55889252 55889252 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 55889252 55889252 C G SNP TMEM190 ENST00000291934 human ensembl 70_37 +1 known missense c.303 p.F101L 0.998 NULL superfamily_P_trefoil - no_errors TMEM190 HGNC TMEM202 338949 genome.wustl.edu 37 15 72700113 72700113 + Nonsense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 72700113 72700113 C G SNP TMEM202 ENST00000341689 human ensembl 70_37 +1 known nonsense c.701 p.S234* 0.210 NULL NULL - no_errors TMEM202 HGNC TMX4 56255 genome.wustl.edu 37 20 7963053 7963053 + Nonsense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 7963053 7963053 G A SNP TMX4 ENST00000246024 human ensembl 70_37 -1 known nonsense c.895 p.Q299* 0.073 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TMX4 HGNC TMX4 56255 genome.wustl.edu 37 20 7982144 7982144 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 7982144 7982144 G A SNP TMX4 ENST00000246024 human ensembl 70_37 -1 known missense c.337 p.H113Y 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TMX4 HGNC TNFRSF1A 7132 genome.wustl.edu 37 12 6440006 6440006 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 6440006 6440006 C T SNP TNFRSF1A ENST00000535038 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors TNFRSF1A HGNC TNN 63923 genome.wustl.edu 37 1 175066664 175066664 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 175066664 175066664 C G SNP TNN ENST00000239462 human ensembl 70_37 +1 known missense c.1700 p.S567C 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_Fibronectin_type3 - no_errors TNN HGNC TOE1 114034 genome.wustl.edu 37 1 45805812 45805812 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 45805812 45805812 C T SNP TOE1 ENST00000477731 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TOE1 HGNC TOM1L1 10040 genome.wustl.edu 37 17 53007533 53007533 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 53007533 53007533 G A SNP TOM1L1 ENST00000575882 human ensembl 70_37 +1 known missense c.820 p.E274K 1.000 pfam_GAT,pirsf_TOM1,pfscan_GAT pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS - no_errors TOM1L1 HGNC TOMM34 10953 genome.wustl.edu 37 20 43577512 43577512 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 43577512 43577512 G C SNP TOMM34 ENST00000372813 human ensembl 70_37 -1 known missense c.557 p.S186C 1.000 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TOMM34 HGNC TOPBP1 11073 genome.wustl.edu 37 3 133342989 133342989 + Missense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 133342989 133342989 G T SNP TOPBP1 ENST00000260810 human ensembl 70_37 -1 known missense c.2835 p.F945L 1.000 pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TOPBP1 HGNC TOX2 84969 genome.wustl.edu 37 20 42683061 42683061 + Missense_Mutation SNP A A T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 42683061 42683061 A T SNP TOX2 ENST00000341197 human ensembl 70_37 +1 known missense c.774 p.R258S 0.997 pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors TOX2 HGNC TOX4 9878 genome.wustl.edu 37 14 21961402 21961402 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 21961402 21961402 G C SNP TOX4 ENST00000262709 human ensembl 70_37 +1 known missense c.1627 p.D543H 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors TOX4 HGNC TP53 7157 genome.wustl.edu 37 17 7577065 7577065 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 7577065 7577065 C T SNP TP53 ENST00000269305 human ensembl 70_37 -1 known silent c.873 p.K291 0.998 NULL pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC TP53 7157 genome.wustl.edu 37 17 7577077 7577077 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 7577077 7577077 C T SNP TP53 ENST00000269305 human ensembl 70_37 -1 known silent c.861 p.E287 0.910 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC TP53 7157 genome.wustl.edu 37 17 7577085 7577085 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 7577085 7577085 C T SNP TP53 ENST00000269305 human ensembl 70_37 -1 known missense c.853 p.E285K 0.995 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC TPM3P9 147804 genome.wustl.edu 37 19 53945480 53945480 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 53945480 53945480 G A SNP TPM3P9 ENST00000424846 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors TPM3P9 HGNC TPM4 7171 genome.wustl.edu 37 19 16192822 16192822 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 16192822 16192822 G A SNP TPM4 ENST00000344824 human ensembl 70_37 +1 known missense c.340 p.E114K 1.000 pfam_Tropomyosin pfam_Tropomyosin,prints_Tropomyosin - no_errors TPM4 HGNC TPSAB1 7177 genome.wustl.edu 37 16 1292188 1292188 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 1292188 1292188 C G SNP TPSAB1 ENST00000562675 human ensembl 70_37 +1 known missense c.775 p.R259G 0.783 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TPSAB1 HGNC TRAFD1 10906 genome.wustl.edu 37 12 112578867 112578867 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 112578867 112578867 G A SNP TRAFD1 ENST00000257604 human ensembl 70_37 +1 known missense c.482 p.G161E 0.973 NULL superfamily_TRAF-like - no_errors TRAFD1 HGNC TRAFD1 10906 genome.wustl.edu 37 12 112589766 112589766 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 112589766 112589766 C G SNP TRAFD1 ENST00000257604 human ensembl 70_37 +1 known missense c.1441 p.P481A 0.886 NULL superfamily_TRAF-like - no_errors TRAFD1 HGNC TRAIP 10293 genome.wustl.edu 37 3 49866880 49866880 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 49866880 49866880 G C SNP TRAIP ENST00000469027 human ensembl 70_37 -1 novel missense c.833 p.S278C 0.201 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors TRAIP HGNC TRAK2 66008 genome.wustl.edu 37 2 202264129 202264129 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 202264129 202264129 C G SNP TRAK2 ENST00000332624 human ensembl 70_37 -1 known missense c.451 p.E151Q 1.000 pfam_HAP1_N pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom - no_errors TRAK2 HGNC TRAP1 10131 genome.wustl.edu 37 16 3715983 3715983 + Nonsense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 3715983 3715983 G A SNP TRAP1 ENST00000246957 human ensembl 70_37 -1 known nonsense c.1372 p.Q458* 1.000 pfam_Hsp90,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Hsp90 pfam_Hsp90,pfam_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pirsf_Hsp90,prints_Hsp90_N - no_errors TRAP1 HGNC TRAPPC5 126003 genome.wustl.edu 37 19 7747467 7747467 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 7747467 7747467 G A SNP TRAPPC5 ENST00000317378 human ensembl 70_37 +1 known missense c.328 p.D110N 1.000 pfam_TRAPP_component,superfamily_NO_sig/Golgi_transp_ligand-bd,pirsf_TRAPP-I_Trs31 pfam_TRAPP_component,superfamily_NO_sig/Golgi_transp_ligand-bd,pirsf_TRAPP-I_Trs31 - no_errors TRAPPC5 HGNC TRIL 9865 genome.wustl.edu 37 7 28993035 28993035 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 28993035 28993035 C G SNP TRIL ENST00000322982 human ensembl 70_37 -1 known rna NULL NULL 0.736 - - - no_errors TRIL HGNC TRIL 9865 genome.wustl.edu 37 7 28993116 28993116 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 28993116 28993116 G A SNP TRIL ENST00000322982 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TRIL HGNC TRIM16L 147166 genome.wustl.edu 37 17 18638554 18638554 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 18638554 18638554 C G SNP TRIM16L ENST00000395902 human ensembl 70_37 +1 known missense c.990 p.F330L 0.998 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors TRIM16L HGNC TRIM17 51127 genome.wustl.edu 37 1 228596204 228596204 + Missense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 228596204 228596204 C A SNP TRIM17 ENST00000295033 human ensembl 70_37 -1 known missense c.1132 p.D378Y 0.995 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM17 HGNC TRIM33 51592 genome.wustl.edu 37 1 114963040 114963040 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 114963040 114963040 C G SNP TRIM33 ENST00000450349 human ensembl 70_37 -1 known missense c.919 p.E307Q 0.000 NULL pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors TRIM33 HGNC TRIM51 84767 genome.wustl.edu 37 11 55653304 55653304 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 55653304 55653304 G A SNP TRIM51 ENST00000449290 human ensembl 70_37 +1 known missense c.400 p.E134K 0.905 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM51 HGNC TRIO 7204 genome.wustl.edu 37 5 14462916 14462916 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 14462916 14462916 C T SNP TRIO ENST00000344204 human ensembl 70_37 +1 known missense c.5549 p.S1850L 0.998 NULL pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors TRIO HGNC TRIO 7204 genome.wustl.edu 37 5 14507291 14507291 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 14507291 14507291 G C SNP TRIO ENST00000344204 human ensembl 70_37 +1 known missense c.8673 p.K2891N 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors TRIO HGNC TRIOBP 11078 genome.wustl.edu 37 22 38130433 38130433 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 38130433 38130433 G A SNP TRIOBP ENST00000406386 human ensembl 70_37 +1 known missense c.4090 p.E1364K 0.934 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC TRIP11 9321 genome.wustl.edu 37 14 92477349 92477349 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 92477349 92477349 G A SNP TRIP11 ENST00000267622 human ensembl 70_37 -1 known missense c.1295 p.S432L 0.591 NULL superfamily_Ribosomal_L29,pfscan_GRIP - no_errors TRIP11 HGNC TRNAU1AP 54952 genome.wustl.edu 37 1 28904068 28904068 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 28904068 28904068 G A SNP TRNAU1AP ENST00000373830 human ensembl 70_37 +1 known missense c.784 p.E262K 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TRNAU1AP HGNC TRPC5 7224 genome.wustl.edu 37 X 111195357 111195357 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 111195357 111195357 C T SNP TRPC5 ENST00000262839 human ensembl 70_37 -1 known missense c.292 p.D98N 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC5 HGNC TRPM1 4308 genome.wustl.edu 37 15 31294254 31294254 + Missense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 31294254 31294254 C A SNP TRPM1 ENST00000542188 human ensembl 70_37 -1 known missense c.4700 p.R1567I 0.096 NULL pfam_Ion_trans_dom - no_errors TRPM1 HGNC TRRAP 8295 genome.wustl.edu 37 7 98592351 98592351 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 98592351 98592351 G C SNP TRRAP ENST00000359863 human ensembl 70_37 +1 known missense c.10147 p.E3383Q 1.000 NULL pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC TSC2 7249 genome.wustl.edu 37 16 2129136 2129136 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 2129136 2129136 G A SNP TSC2 ENST00000219476 human ensembl 70_37 +1 known missense c.3070 p.E1024K 1.000 NULL pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP,prints_Tuberin - no_errors TSC2 HGNC TSGA10 80705 genome.wustl.edu 37 2 99695290 99695290 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 99695290 99695290 C G SNP TSGA10 ENST00000489546 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors TSGA10 HGNC TSHZ1 10194 genome.wustl.edu 37 18 72999996 72999996 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 18 72999996 72999996 G A SNP TSHZ1 ENST00000580243 human ensembl 70_37 +1 known silent c.2634 p.E878 1.000 superfamily_Homeodomain-like superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors TSHZ1 HGNC TSPYL4 23270 genome.wustl.edu 37 6 116575098 116575098 + Nonsense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 116575098 116575098 G C SNP TSPYL4 ENST00000420283 human ensembl 70_37 -1 known nonsense c.74 p.S25* 0.005 NULL pfam_NAP_family - no_errors TSPYL4 HGNC TTC28 23331 genome.wustl.edu 37 22 28378382 28378382 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 28378382 28378382 G C SNP TTC28 ENST00000397906 human ensembl 70_37 -1 novel missense c.7273 p.P2425A 0.127 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC28 HGNC TTC3 7267 genome.wustl.edu 37 21 38569941 38569941 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 21 38569941 38569941 G A SNP TTC3 ENST00000354749 human ensembl 70_37 +1 known missense c.5650 p.D1884N 0.917 NULL pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC TTI1 9675 genome.wustl.edu 37 20 36640387 36640387 + Nonsense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 36640387 36640387 G C SNP TTI1 ENST00000373447 human ensembl 70_37 -1 known nonsense c.1832 p.S611* 1.000 superfamily_ARM-type_fold,pirsf_UCP005250 superfamily_ARM-type_fold,pirsf_UCP005250 - no_errors TTI1 HGNC TTLL12 23170 genome.wustl.edu 37 22 43567739 43567739 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 43567739 43567739 C T SNP TTLL12 ENST00000494035 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors TTLL12 HGNC TTLL6 284076 genome.wustl.edu 37 17 46867437 46867437 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 46867437 46867437 G C SNP TTLL6 ENST00000393382 human ensembl 70_37 -1 known missense c.1256 p.S419C 1.000 pfam_Tub_tyr_ligase pfam_Tub_tyr_ligase - no_errors TTLL6 HGNC TTN 7273 genome.wustl.edu 37 2 179426582 179426582 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 179426582 179426582 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.76573 p.E25525K 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179429007 179429007 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 179429007 179429007 G C SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.74148 p.V24716 0.949 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179452710 179452710 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 179452710 179452710 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.55720 p.E18574Q 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179486048 179486048 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 179486048 179486048 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.37693 p.E12565Q 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179589076 179589076 + Nonsense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 179589076 179589076 G C SNP TTN ENST00000342992 human ensembl 70_37 -1 known nonsense c.17294 p.S5765* 0.662 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179611025 179611025 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 179611025 179611025 C G SNP TTN ENST00000360870 human ensembl 70_37 -1 known missense c.16102 p.E5368Q 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179616464 179616464 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 179616464 179616464 C G SNP TTN ENST00000360870 human ensembl 70_37 -1 known missense c.10663 p.E3555Q 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179638336 179638336 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 179638336 179638336 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.7447 p.E2483K 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179641319 179641319 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 179641319 179641319 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.5272 p.G1758R 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TUBBP5 643224 genome.wustl.edu 37 9 141070177 141070177 + RNA SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 141070177 141070177 G T SNP TUBBP5 ENST00000503395 human ensembl 70_37 +1 known rna NULL NULL 0.412 - - - no_errors TUBBP5 HGNC TUBD1 51174 genome.wustl.edu 37 17 57941116 57941116 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 57941116 57941116 C G SNP TUBD1 ENST00000325752 human ensembl 70_37 -1 known missense c.1168 p.E390Q 1.000 superfamily_Tub_FtsZ_C,prints_Delta_tubulin pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,prints_Delta_tubulin,prints_Tubulin,prints_Epsilon_tubulin - no_errors TUBD1 HGNC TUBG1 7283 genome.wustl.edu 37 17 40766963 40766963 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 40766963 40766963 G C SNP TUBG1 ENST00000251413 human ensembl 70_37 +1 known missense c.1260 p.E420D 1.000 superfamily_Tub_FtsZ_C,prints_Gamma_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Gamma_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin,prints_Alpha_tubulin - no_errors TUBG1 HGNC TUBG2 27175 genome.wustl.edu 37 17 40812669 40812669 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 40812669 40812669 C T SNP TUBG2 ENST00000251412 human ensembl 70_37 +1 known missense c.343 p.H115Y 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Beta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Gamma_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin,prints_Alpha_tubulin - no_errors TUBG2 HGNC TUBGCP6 85378 genome.wustl.edu 37 22 50667952 50667952 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 50667952 50667952 C T SNP TUBGCP6 ENST00000248846 human ensembl 70_37 -1 known missense c.1171 p.E391K 0.995 pfam_Spc97_Spc98 pfam_Spc97_Spc98 - no_errors TUBGCP6 HGNC TXLNA 200081 genome.wustl.edu 37 1 32655836 32655836 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 32655836 32655836 G C SNP TXLNA ENST00000373609 human ensembl 70_37 +1 known missense c.949 p.E317Q 1.000 pfam_Taxilin_fam pfam_Taxilin_fam - no_errors TXLNA HGNC TXNDC5 81567 genome.wustl.edu 37 6 7886214 7886214 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 7886214 7886214 G A SNP TXNDC5 ENST00000379757 human ensembl 70_37 -1 known silent c.1026 p.F342 0.772 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Disulphide_isomerase - no_errors TXNDC5 HGNC UACA 55075 genome.wustl.edu 37 15 70959653 70959653 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 70959653 70959653 G A SNP UACA ENST00000322954 human ensembl 70_37 -1 known missense c.3370 p.L1124F 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt - no_errors UACA HGNC UBE2I 7329 genome.wustl.edu 37 16 1358814 1358814 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 1358814 1358814 G A SNP UBE2I ENST00000339021 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors UBE2I HGNC UBE4B 10277 genome.wustl.edu 37 1 10163088 10163088 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 10163088 10163088 G A SNP UBE4B ENST00000343090 human ensembl 70_37 +1 known missense c.518 p.R173Q 1.000 NULL pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain - no_errors UBE4B HGNC UBOX5 22888 genome.wustl.edu 37 20 3090896 3090896 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 3090896 3090896 G C SNP UBOX5 ENST00000217173 human ensembl 70_37 -1 known missense c.1482 p.F494L 1.000 pfscan_Znf_RING pfam_Ubox_domain,smart_Ubox_domain,pfscan_Znf_RING - no_errors UBOX5 HGNC UBOX5 22888 genome.wustl.edu 37 20 3103193 3103193 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 3103193 3103193 G C SNP UBOX5 ENST00000217173 human ensembl 70_37 -1 known missense c.92 p.S31C 1.000 NULL pfam_Ubox_domain,smart_Ubox_domain,pfscan_Znf_RING - no_errors UBOX5 HGNC UBR2 23304 genome.wustl.edu 37 6 42600322 42600322 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 42600322 42600322 G A SNP UBR2 ENST00000372899 human ensembl 70_37 +1 known missense c.1314 p.M438I 1.000 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR2 HGNC UBR2 23304 genome.wustl.edu 37 6 42600337 42600337 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 42600337 42600337 G A SNP UBR2 ENST00000372899 human ensembl 70_37 +1 known silent c.1329 p.K443 0.995 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR2 HGNC UBR5 51366 genome.wustl.edu 37 8 103341421 103341421 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 103341421 103341421 G A SNP UBR5 ENST00000520539 human ensembl 70_37 -1 known missense c.1223 p.S408L 1.000 superfamily_Reg_csome_cond/b-lactamase_inh pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC UFD1L 7353 genome.wustl.edu 37 22 19459236 19459236 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 19459236 19459236 C T SNP UFD1L ENST00000263202 human ensembl 70_37 -1 known missense c.265 p.E89K 1.000 pfam_UFD1 pfam_UFD1 - no_errors UFD1L HGNC UGGT2 55757 genome.wustl.edu 37 13 96506724 96506724 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 96506724 96506724 C T SNP UGGT2 ENST00000376747 human ensembl 70_37 -1 known silent c.4014 p.V1338 1.000 pfam_Glyco_trans_8 pfam_UDP-g_GGtrans,pfam_Glyco_trans_8 - no_errors UGGT2 HGNC UGT1A1 54658 genome.wustl.edu 37 2 234669586 234669586 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 234669586 234669586 C T SNP UGT1A1 ENST00000305208 human ensembl 70_37 +1 known missense c.653 p.S218L 0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A1 HGNC ULK1 8408 genome.wustl.edu 37 12 132399633 132399633 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 132399633 132399633 C G SNP ULK1 ENST00000321867 human ensembl 70_37 +1 known missense c.1379 p.S460C 0.214 pirsf_Ser/Thr_kin_STPK_Ulk-1/2 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK1 HGNC ULK4P2 100288380 genome.wustl.edu 37 15 30865020 30865020 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 30865020 30865020 G C SNP ULK4P2 ENST00000561753 human ensembl 70_37 +1 putative rna NULL NULL 0.002 - - - no_errors ULK4P2 HGNC UNC13B 10497 genome.wustl.edu 37 9 35291080 35291080 + Missense_Mutation SNP T T G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 35291080 35291080 T G SNP UNC13B ENST00000396787 human ensembl 70_37 +1 known missense c.541 p.L181V 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13B HGNC UNC45A 55898 genome.wustl.edu 37 15 91483039 91483039 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 91483039 91483039 G A SNP UNC45A ENST00000418476 human ensembl 70_37 +1 known missense c.505 p.E169K 0.998 superfamily_ARM-type_fold pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors UNC45A HGNC UNG 7374 genome.wustl.edu 37 12 109541279 109541279 + Nonsense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 109541279 109541279 C T SNP UNG ENST00000242576 human ensembl 70_37 +1 known nonsense c.664 p.Q222* 1.000 pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like,tigrfam_Ura_DNA_glycsylse pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like,tigrfam_Ura_DNA_glycsylse - no_errors UNG HGNC UPF2 26019 genome.wustl.edu 37 10 12077300 12077300 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 12077300 12077300 G C SNP UPF2 ENST00000356352 human ensembl 70_37 -1 known missense c.123 p.I41M 1.000 NULL pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors UPF2 HGNC URB1 9875 genome.wustl.edu 37 21 33694162 33694162 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 21 33694162 33694162 G A SNP URB1 ENST00000382751 human ensembl 70_37 -1 known silent c.5433 p.F1811 1.000 superfamily_ARM-type_fold pfam_Npa1_N,superfamily_ARM-type_fold - no_errors URB1 HGNC URB1 9875 genome.wustl.edu 37 21 33694880 33694880 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 21 33694880 33694880 G A SNP URB1 ENST00000382751 human ensembl 70_37 -1 known silent c.5248 p.L1750 0.944 superfamily_ARM-type_fold pfam_Npa1_N,superfamily_ARM-type_fold - no_errors URB1 HGNC USH2A 7399 genome.wustl.edu 37 1 215963499 215963499 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 215963499 215963499 C T SNP USH2A ENST00000366943 human ensembl 70_37 -1 known missense c.10084 p.E3362K 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC USH2A 7399 genome.wustl.edu 37 1 216166366 216166366 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 216166366 216166366 C T SNP USH2A ENST00000366943 human ensembl 70_37 -1 known silent c.6801 p.P2267 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC USH2A 7399 genome.wustl.edu 37 1 216462663 216462663 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 216462663 216462663 C G SNP USH2A ENST00000366943 human ensembl 70_37 -1 known missense c.1930 p.D644H 0.995 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC USHBP1 83878 genome.wustl.edu 37 19 17367422 17367422 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 17367422 17367422 G A SNP USHBP1 ENST00000252597 human ensembl 70_37 -1 known missense c.1328 p.S443L 0.028 NULL pfam_USH1C-bd_PDZ_domain - no_errors USHBP1 HGNC USP20 10868 genome.wustl.edu 37 9 132641781 132641781 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 132641781 132641781 G A SNP USP20 ENST00000472108 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors USP20 HGNC USP24 23358 genome.wustl.edu 37 1 55586325 55586325 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 55586325 55586325 G A SNP USP24 ENST00000294383 human ensembl 70_37 -1 known silent c.4452 p.L1484 0.987 superfamily_ARM-type_fold pfam_Peptidase_C19,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19 - no_errors USP24 HGNC USP28 57646 genome.wustl.edu 37 11 113674600 113674600 + Splice_Site SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 113674600 113674600 C G SNP USP28 ENST00000003302 human ensembl 70_37 -1 known splice_site c.2659-1 e22-1 1.000 - - - no_errors USP28 HGNC USP32 84669 genome.wustl.edu 37 17 58288768 58288768 + Missense_Mutation SNP T T A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 58288768 58288768 T A SNP USP32 ENST00000300896 human ensembl 70_37 -1 known missense c.2287 p.I763F 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_EF_hand_Ca-bd,smart_Pept_C19_DUSP,pfscan_EF_HAND_2,pfscan_Peptidase_C19,prints_Recoverin - no_errors USP32 HGNC USP4 7375 genome.wustl.edu 37 3 49321551 49321551 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 49321551 49321551 C G SNP USP4 ENST00000265560 human ensembl 70_37 -1 known missense c.2409 p.K803N 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19 - no_errors USP4 HGNC USP53 54532 genome.wustl.edu 37 4 120192585 120192585 + Nonsense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 120192585 120192585 C T SNP USP53 ENST00000274030 human ensembl 70_37 +1 known nonsense c.1570 p.Q524* 0.300 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP53 HGNC USP6 9098 genome.wustl.edu 37 17 5072095 5072095 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 5072095 5072095 G C SNP USP6 ENST00000250066 human ensembl 70_37 +1 known missense c.3262 p.D1088H 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Peptidase_C19 - no_errors USP6 HGNC USPL1 10208 genome.wustl.edu 37 13 31232305 31232305 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 31232305 31232305 G A SNP USPL1 ENST00000255304 human ensembl 70_37 +1 known silent c.2091 p.E697 0.000 NULL pfscan_Peptidase_C19 - no_errors USPL1 HGNC UTRN 7402 genome.wustl.edu 37 6 145069393 145069393 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 145069393 145069393 G A SNP UTRN ENST00000367545 human ensembl 70_37 +1 known missense c.7951 p.E2651K 1.000 smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors UTRN HGNC VAC14 55697 genome.wustl.edu 37 16 70765451 70765451 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 70765451 70765451 C G SNP VAC14 ENST00000261776 human ensembl 70_37 -1 known missense c.1608 p.K536N 1.000 superfamily_ARM-type_fold pfam_VAC14_Fig4p-bd,pfam_HEAT,superfamily_ARM-type_fold - no_errors VAC14 HGNC VAC14 55697 genome.wustl.edu 37 16 70796924 70796924 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 70796924 70796924 C G SNP VAC14 ENST00000261776 human ensembl 70_37 -1 known missense c.1165 p.E389Q 0.981 superfamily_ARM-type_fold pfam_VAC14_Fig4p-bd,pfam_HEAT,superfamily_ARM-type_fold - no_errors VAC14 HGNC VAC14 55697 genome.wustl.edu 37 16 70817361 70817361 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 70817361 70817361 C G SNP VAC14 ENST00000261776 human ensembl 70_37 -1 known missense c.691 p.E231Q 1.000 superfamily_ARM-type_fold pfam_VAC14_Fig4p-bd,pfam_HEAT,superfamily_ARM-type_fold - no_errors VAC14 HGNC VASH1 22846 genome.wustl.edu 37 14 77242382 77242382 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 77242382 77242382 G C SNP VASH1 ENST00000167106 human ensembl 70_37 +1 known silent c.678 p.L226 1.000 NULL NULL - no_errors VASH1 HGNC VCAN 1462 genome.wustl.edu 37 5 82834631 82834631 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 82834631 82834631 G A SNP VCAN ENST00000265077 human ensembl 70_37 +1 known missense c.5809 p.D1937N 0.998 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors VCAN HGNC VGF 7425 genome.wustl.edu 37 7 100807818 100807818 + Nonsense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 100807818 100807818 G A SNP VGF ENST00000249330 human ensembl 70_37 -1 known nonsense c.307 p.Q103* 0.164 NULL NULL - no_errors VGF HGNC VIM 7431 genome.wustl.edu 37 10 17271880 17271880 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 17271880 17271880 G C SNP VIM ENST00000224237 human ensembl 70_37 +1 known missense c.459 p.E153D 1.000 pfam_F pfam_F,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin - no_errors VIM HGNC VN1R1 57191 genome.wustl.edu 37 19 57967211 57967211 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 57967211 57967211 C G SNP VN1R1 ENST00000321039 human ensembl 70_37 -1 known missense c.644 p.R215T 0.000 pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1 - no_errors VN1R1 HGNC VOPP1 81552 genome.wustl.edu 37 7 55540725 55540725 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 55540725 55540725 C T SNP VOPP1 ENST00000285279 human ensembl 70_37 -1 known silent c.342 p.P114 0.999 NULL NULL - no_errors VOPP1 HGNC VPS13B 157680 genome.wustl.edu 37 8 100147896 100147896 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 100147896 100147896 G C SNP VPS13B ENST00000358544 human ensembl 70_37 +1 known missense c.1498 p.D500H 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC VPS39 23339 genome.wustl.edu 37 15 42483732 42483732 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 42483732 42483732 C G SNP VPS39 ENST00000348544 human ensembl 70_37 -1 known missense c.199 p.E67Q 1.000 pfam_Citron,superfamily_WD40_repeat_dom,smart_Citron pfam_Citron,pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,smart_Citron - no_errors VPS39 HGNC VPS52 6293 genome.wustl.edu 37 6 33218546 33218546 + RNA SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 33218546 33218546 G T SNP VPS52 ENST00000478934 human ensembl 70_37 -1 known rna NULL NULL 0.285 - - - no_errors VPS52 HGNC VWA2 340706 genome.wustl.edu 37 10 116050048 116050048 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 116050048 116050048 G C SNP VWA2 ENST00000392982 human ensembl 70_37 +1 known missense c.2172 p.E724D 0.995 pfam_EG-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_VWF_A,pfam_EG-like_dom,pfam_EGF_extracell,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_VWF_A - no_errors VWA2 HGNC VWA5B1 127731 genome.wustl.edu 37 1 20645915 20645915 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 20645915 20645915 G A SNP VWA5B1 ENST00000375089 human ensembl 70_37 +1 known missense c.882 p.M294I 1.000 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA5B1 HGNC WASF1 8936 genome.wustl.edu 37 6 110423276 110423276 + Nonsense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 110423276 110423276 G C SNP WASF1 ENST00000359451 human ensembl 70_37 -1 known nonsense c.1037 p.S346* 1.000 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF1 HGNC WBP1 23559 genome.wustl.edu 37 2 74686223 74686223 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 74686223 74686223 C G SNP WBP1 ENST00000393972 human ensembl 70_37 +1 novel missense c.169 p.L57V 1.000 NULL pfam_Uncharacterised_WW-bd - no_errors WBP1 HGNC WBSCR17 64409 genome.wustl.edu 37 7 71130547 71130547 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 71130547 71130547 C G SNP WBSCR17 ENST00000333538 human ensembl 70_37 +1 known missense c.1232 p.S411C 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC WBSCR17 64409 genome.wustl.edu 37 7 71177239 71177239 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 71177239 71177239 C G SNP WBSCR17 ENST00000467723 human ensembl 70_37 +1 known rna NULL NULL 0.011 - - - no_errors WBSCR17 HGNC WDFY3 23001 genome.wustl.edu 37 4 85614120 85614120 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 85614120 85614120 G C SNP WDFY3 ENST00000295888 human ensembl 70_37 -1 known missense c.8967 p.I2989M 0.398 NULL pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC WDR13 64743 genome.wustl.edu 37 X 48458940 48458940 + Nonsense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 48458940 48458940 C T SNP WDR13 ENST00000218056 human ensembl 70_37 +1 known nonsense c.757 p.R253* 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR13 HGNC WDR35 57539 genome.wustl.edu 37 2 20114024 20114024 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 20114024 20114024 C G SNP WDR35 ENST00000345530 human ensembl 70_37 -1 known missense c.3169 p.D1057H 1.000 pirsf_WD_repeat_p35 pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pirsf_WD_repeat_p35,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR35 HGNC WDR35 57539 genome.wustl.edu 37 2 20174334 20174334 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 20174334 20174334 G A SNP WDR35 ENST00000345530 human ensembl 70_37 -1 known missense c.631 p.H211Y 1.000 pirsf_WD_repeat_p35 pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pirsf_WD_repeat_p35,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR35 HGNC WDR4 10785 genome.wustl.edu 37 21 44274710 44274710 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 21 44274710 44274710 G A SNP WDR4 ENST00000330317 human ensembl 70_37 -1 known silent c.753 p.F251 0.723 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR4 HGNC WDR6 11180 genome.wustl.edu 37 3 49051433 49051433 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 49051433 49051433 C T SNP WDR6 ENST00000395474 human ensembl 70_37 +1 known silent c.2556 p.P852 0.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR6 HGNC WDR61 80349 genome.wustl.edu 37 15 78577611 78577611 + Nonsense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 15 78577611 78577611 G A SNP WDR61 ENST00000267973 human ensembl 70_37 -1 known nonsense c.820 p.Q274* 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR61 HGNC WDR64 128025 genome.wustl.edu 37 1 241834403 241834403 + Missense_Mutation SNP G G T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 241834403 241834403 G T SNP WDR64 ENST00000366552 human ensembl 70_37 +1 known missense c.304 p.D102Y 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR64 HGNC WDR83OS 51398 genome.wustl.edu 37 19 12780964 12780964 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 12780964 12780964 G A SNP WDR83OS ENST00000600694 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors WDR83OS HGNC WHSC1 7468 genome.wustl.edu 37 4 1902844 1902844 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 1902844 1902844 G C SNP WHSC1 ENST00000382891 human ensembl 70_37 +1 known missense c.463 p.E155Q 0.974 NULL pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_superfamily,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_PWWP,smart_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_superfamily - no_errors WHSC1 HGNC WIPI2 26100 genome.wustl.edu 37 7 5267828 5267828 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 5267828 5267828 G A SNP WIPI2 ENST00000288828 human ensembl 70_37 +1 known silent c.1107 p.L369 0.884 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WIPI2 HGNC WIZ 58525 genome.wustl.edu 37 19 15547672 15547672 + Silent SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 15547672 15547672 G C SNP WIZ ENST00000389282 human ensembl 70_37 -1 known silent c.2541 p.L847 0.824 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors WIZ HGNC WIZ 58525 genome.wustl.edu 37 19 15547786 15547786 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 15547786 15547786 G A SNP WIZ ENST00000389282 human ensembl 70_37 -1 known silent c.2427 p.I809 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors WIZ HGNC WIZ 58525 genome.wustl.edu 37 19 15547792 15547792 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 15547792 15547792 G A SNP WIZ ENST00000389282 human ensembl 70_37 -1 known silent c.2421 p.I807 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors WIZ HGNC WNT7B 7477 genome.wustl.edu 37 22 46327115 46327115 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 46327115 46327115 C T SNP WNT7B ENST00000339464 human ensembl 70_37 -1 known missense c.433 p.E145K 1.000 pfam_Wnt,smart_Wnt,prints_Wnt7 pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt7 - no_errors WNT7B HGNC WNT8B 7479 genome.wustl.edu 37 10 102242219 102242219 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 102242219 102242219 C G SNP WNT8B ENST00000343737 human ensembl 70_37 +1 known missense c.702 p.I234M 0.997 pfam_Wnt,smart_Wnt,prints_Wnt8 pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt8 - no_errors WNT8B HGNC WSB1 26118 genome.wustl.edu 37 17 25631899 25631899 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 25631899 25631899 G C SNP WSB1 ENST00000262394 human ensembl 70_37 +1 known missense c.572 p.R191T 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_SOCS_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WSB1 HGNC WWC3 55841 genome.wustl.edu 37 X 10035326 10035326 + Splice_Site SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 10035326 10035326 G C SNP WWC3 ENST00000380861 human ensembl 70_37 +1 known splice_site c.17-1 e2-1 1.000 - - - no_errors WWC3 HGNC XIST 7503 genome.wustl.edu 37 X 73065497 73065497 + RNA SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 73065497 73065497 G A SNP XIST ENST00000429829 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC XRCC3 7517 genome.wustl.edu 37 14 104165740 104165740 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 104165740 104165740 C G SNP XRCC3 ENST00000352127 human ensembl 70_37 -1 known silent c.735 p.L245 0.939 pfam_DNA_recomb/repair_Rad51_C,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd pfam_DNA_recomb/repair_Rad51_C,superfamily_RNAP_asu_C,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd - no_errors XRCC3 HGNC XRN2 22803 genome.wustl.edu 37 20 21335437 21335437 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 21335437 21335437 C T SNP XRN2 ENST00000377191 human ensembl 70_37 +1 known silent c.1947 p.L649 0.193 pirsf_5_3_exoribonuclease_2 pfam_Put_53exo,superfamily_Znf_CCHC,pirsf_5_3_exoribonuclease_2 - no_errors XRN2 HGNC XRRA1 143570 genome.wustl.edu 37 11 74656105 74656105 + RNA SNP T T G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 74656105 74656105 T G SNP XRRA1 ENST00000524430 human ensembl 70_37 -1 known rna NULL NULL 0.903 - - - no_errors XRRA1 HGNC YLPM1 56252 genome.wustl.edu 37 14 75276095 75276095 + Missense_Mutation SNP T T C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 75276095 75276095 T C SNP YLPM1 ENST00000325680 human ensembl 70_37 +1 known missense c.4534 p.Y1512H 1.000 NULL superfamily_FH2_actin-bd - no_errors YLPM1 Uniprot_genename ZBBX 79740 genome.wustl.edu 37 3 166958617 166958617 + Missense_Mutation SNP T T A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 166958617 166958617 T A SNP ZBBX ENST00000307529 human ensembl 70_37 -1 known missense c.2484 p.Q828H 0.995 NULL pfam_Znf_B-box - no_errors ZBBX HGNC ZBTB1 22890 genome.wustl.edu 37 14 64989698 64989698 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 64989698 64989698 G C SNP ZBTB1 ENST00000394712 human ensembl 70_37 +1 known missense c.1476 p.E492D 0.990 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB1 HGNC ZBTB10 65986 genome.wustl.edu 37 8 81399682 81399682 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 81399682 81399682 G C SNP ZBTB10 ENST00000426744 human ensembl 70_37 +1 known missense c.637 p.D213H 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB10 HGNC ZBTB11 27107 genome.wustl.edu 37 3 101374961 101374961 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 101374961 101374961 C G SNP ZBTB11 ENST00000312938 human ensembl 70_37 -1 known missense c.2178 p.M726I 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB11 HGNC ZBTB4 57659 genome.wustl.edu 37 17 7366072 7366072 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 7366072 7366072 C T SNP ZBTB4 ENST00000311403 human ensembl 70_37 -1 known silent c.2229 p.K743 0.987 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB4 HGNC ZBTB4 57659 genome.wustl.edu 37 17 7366075 7366075 + Silent SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 17 7366075 7366075 C A SNP ZBTB4 ENST00000311403 human ensembl 70_37 -1 known silent c.2226 p.R742 0.103 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB4 HGNC ZBTB44 29068 genome.wustl.edu 37 11 130104128 130104128 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 130104128 130104128 C G SNP ZBTB44 ENST00000357899 human ensembl 70_37 -1 known missense c.1609 p.E537Q 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB44 HGNC ZC3H13 23091 genome.wustl.edu 37 13 46543770 46543770 + Missense_Mutation SNP T T G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 13 46543770 46543770 T G SNP ZC3H13 ENST00000242848 human ensembl 70_37 -1 known missense c.2909 p.K970T 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ZC3H4 23211 genome.wustl.edu 37 19 47568444 47568444 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 47568444 47568444 C T SNP ZC3H4 ENST00000594019 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ZC3H4 HGNC ZC3H4 23211 genome.wustl.edu 37 19 47593402 47593402 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 47593402 47593402 C G SNP ZC3H4 ENST00000253048 human ensembl 70_37 -1 known missense c.537 p.K179N 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H4 HGNC ZC3H6 376940 genome.wustl.edu 37 2 113089379 113089379 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 2 113089379 113089379 G A SNP ZC3H6 ENST00000343936 human ensembl 70_37 +1 known missense c.2884 p.D962N 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H6 HGNC ZC3H7A 29066 genome.wustl.edu 37 16 11858943 11858943 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 11858943 11858943 G A SNP ZC3H7A ENST00000355758 human ensembl 70_37 -1 known missense c.1786 p.H596Y 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H7A HGNC ZCCHC6 79670 genome.wustl.edu 37 9 88916443 88916443 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 88916443 88916443 C G SNP ZCCHC6 ENST00000375963 human ensembl 70_37 -1 known missense c.4168 p.E1390Q 1.000 NULL pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC6 HGNC ZDHHC7 55625 genome.wustl.edu 37 16 85022397 85022397 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 85022397 85022397 C T SNP ZDHHC7 ENST00000344861 human ensembl 70_37 -1 known missense c.398 p.G133E 0.001 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC7 HGNC ZDHHC8 29801 genome.wustl.edu 37 22 20128963 20128963 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 22 20128963 20128963 G C SNP ZDHHC8 ENST00000405930 human ensembl 70_37 +1 known missense c.1035 p.Q345H 0.998 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC8 HGNC ZFAND4 93550 genome.wustl.edu 37 10 46113667 46113667 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 46113667 46113667 G A SNP ZFAND4 ENST00000344646 human ensembl 70_37 -1 known missense c.1969 p.L657F 0.888 NULL pfam_Ubiquitin,pfam_Znf_AN1,smart_Ubiquitin,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr - no_errors ZFAND4 HGNC ZFC3H1 196441 genome.wustl.edu 37 12 72013120 72013120 + Missense_Mutation SNP T T C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 12 72013120 72013120 T C SNP ZFC3H1 ENST00000378743 human ensembl 70_37 -1 known missense c.5119 p.K1707E 1.000 NULL pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom - no_errors ZFC3H1 HGNC ZFHX3 463 genome.wustl.edu 37 16 72831052 72831052 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 72831052 72831052 C G SNP ZFHX3 ENST00000268489 human ensembl 70_37 -1 known missense c.5529 p.Q1843H 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ZFHX4 79776 genome.wustl.edu 37 8 77767198 77767198 + Nonsense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 77767198 77767198 C T SNP ZFHX4 ENST00000521891 human ensembl 70_37 +1 known nonsense c.8041 p.R2681* 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ZFP1 162239 genome.wustl.edu 37 16 75203198 75203198 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 75203198 75203198 G A SNP ZFP1 ENST00000393430 human ensembl 70_37 +1 known missense c.190 p.D64N 0.004 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP1 HGNC ZFP28 140612 genome.wustl.edu 37 19 57065696 57065696 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 57065696 57065696 C T SNP ZFP28 ENST00000301318 human ensembl 70_37 +1 known silent c.1542 p.F514 0.999 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP28 HGNC ZFP57 346171 genome.wustl.edu 37 6 29640768 29640768 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 29640768 29640768 G A SNP ZFP57 ENST00000488757 human ensembl 70_37 -1 known missense c.1120 p.H374Y 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP57 HGNC ZFPM2 23414 genome.wustl.edu 37 8 106813964 106813964 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 106813964 106813964 G C SNP ZFPM2 ENST00000407775 human ensembl 70_37 +1 known missense c.1654 p.E552Q 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ZFYVE26 23503 genome.wustl.edu 37 14 68282646 68282646 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 14 68282646 68282646 G A SNP ZFYVE26 ENST00000347230 human ensembl 70_37 -1 known missense c.35 p.S12L 0.981 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE26 HGNC ZHX3 23051 genome.wustl.edu 37 20 39831522 39831522 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 39831522 39831522 C T SNP ZHX3 ENST00000373263 human ensembl 70_37 -1 known missense c.2035 p.A679T 0.000 superfamily_Homeodomain-like pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain - no_errors ZHX3 HGNC ZIC4 84107 genome.wustl.edu 37 3 147106079 147106079 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 147106079 147106079 C T SNP ZIC4 ENST00000472749 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ZIC4 HGNC ZIC4 84107 genome.wustl.edu 37 3 147121823 147121823 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 147121823 147121823 C T SNP ZIC4 ENST00000525172 human ensembl 70_37 -1 known silent c.63 p.R21 0.638 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC4 HGNC ZMYM1 79830 genome.wustl.edu 37 1 35579238 35579238 + Nonsense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 35579238 35579238 C T SNP ZMYM1 ENST00000359858 human ensembl 70_37 +1 known nonsense c.1807 p.R603* 0.071 NULL pfam_Znf_MYM,pfam_HATC,superfamily_RNaseH-like_dom,smart_TRASH - no_errors ZMYM1 HGNC ZMYM6 9204 genome.wustl.edu 37 1 35454253 35454253 + Missense_Mutation SNP T T A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 35454253 35454253 T A SNP ZMYM6 ENST00000357182 human ensembl 70_37 -1 known missense c.2430 p.E810D 1.000 NULL pfam_Znf_MYM,superfamily_RNaseH-like_dom,smart_TRASH - no_errors ZMYM6 HGNC ZMYND11 10771 genome.wustl.edu 37 10 267251 267251 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 267251 267251 C G SNP ZMYND11 ENST00000381591 human ensembl 70_37 +1 known missense c.393 p.F131L 1.000 superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_PWWP,pfam_Bromodomain,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors ZMYND11 HGNC ZMYND8 23613 genome.wustl.edu 37 20 45853105 45853105 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 45853105 45853105 C T SNP ZMYND8 ENST00000536340 human ensembl 70_37 -1 known missense c.3142 p.E1048K 1.000 NULL pfam_DUF3544,pfam_Bromodomain,pfam_PWWP,pfam_Znf_PHD-finger,pfam_Znf_MYND,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors ZMYND8 HGNC ZNF101 94039 genome.wustl.edu 37 19 19788738 19788738 + Silent SNP T T C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 19788738 19788738 T C SNP ZNF101 ENST00000318110 human ensembl 70_37 +1 known silent c.69 p.P23 0.808 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF101 HGNC ZNF132 7691 genome.wustl.edu 37 19 58945830 58945830 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 58945830 58945830 G A SNP ZNF132 ENST00000254166 human ensembl 70_37 -1 known silent c.981 p.T327 0.021 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF132 HGNC ZNF132 7691 genome.wustl.edu 37 19 58948493 58948493 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 58948493 58948493 C T SNP ZNF132 ENST00000254166 human ensembl 70_37 -1 known silent c.153 p.E51 1.000 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF132 HGNC ZNF133 7692 genome.wustl.edu 37 20 18297521 18297521 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 18297521 18297521 G C SNP ZNF133 ENST00000462170 human ensembl 70_37 +1 known rna NULL NULL 0.007 - - - no_errors ZNF133 HGNC ZNF16 7564 genome.wustl.edu 37 8 146157398 146157398 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 146157398 146157398 G A SNP ZNF16 ENST00000276816 human ensembl 70_37 -1 known missense c.775 p.H259Y 0.030 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF16 HGNC ZNF17 7565 genome.wustl.edu 37 19 57931647 57931647 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 57931647 57931647 C G SNP ZNF17 ENST00000601808 human ensembl 70_37 +1 known missense c.787 p.Q263E 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF17 HGNC ZKSCAN8 7745 genome.wustl.edu 37 6 28120986 28120986 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 28120986 28120986 G C SNP ZNF192 ENST00000330236 human ensembl 70_37 +1 known missense c.928 p.E310Q 1.000 pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF192 HGNC ZNF195 7748 genome.wustl.edu 37 11 3381540 3381540 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 11 3381540 3381540 C G SNP ZNF195 ENST00000399602 human ensembl 70_37 -1 known missense c.698 p.R233T 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF195 HGNC ZNF224 7767 genome.wustl.edu 37 19 44610712 44610712 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 44610712 44610712 G C SNP ZNF224 ENST00000336976 human ensembl 70_37 +1 known missense c.399 p.Q133H 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF224 HGNC ZNF233 353355 genome.wustl.edu 37 19 44777789 44777789 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 44777789 44777789 G A SNP ZNF233 ENST00000391958 human ensembl 70_37 +1 known missense c.976 p.G326S 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF233 HGNC ZNF234 10780 genome.wustl.edu 37 19 44660812 44660812 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 44660812 44660812 C G SNP ZNF234 ENST00000426739 human ensembl 70_37 +1 known missense c.643 p.Q215E 0.015 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF234 HGNC ZNF236 7776 genome.wustl.edu 37 18 74580682 74580682 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 18 74580682 74580682 G A SNP ZNF236 ENST00000253159 human ensembl 70_37 +1 known silent c.399 p.Q133 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ZNF248 57209 genome.wustl.edu 37 10 38120890 38120890 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 38120890 38120890 C G SNP ZNF248 ENST00000357328 human ensembl 70_37 -1 known missense c.1393 p.E465Q 0.978 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF248 HGNC ZNF252P 286101 genome.wustl.edu 37 8 146202485 146202485 + RNA SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 146202485 146202485 C T SNP ZNF252P ENST00000426361 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ZNF252P HGNC ZNF281 23528 genome.wustl.edu 37 1 200377147 200377147 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 200377147 200377147 G C SNP ZNF281 ENST00000294740 human ensembl 70_37 -1 known missense c.1687 p.Q563E 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF281 HGNC ZNF318 24149 genome.wustl.edu 37 6 43323475 43323475 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 43323475 43323475 C T SNP ZNF318 ENST00000361428 human ensembl 70_37 -1 known missense c.1597 p.D533N 1.000 NULL smart_Znf_U1 - no_errors ZNF318 HGNC ZNF318 24149 genome.wustl.edu 37 6 43325332 43325332 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 6 43325332 43325332 G A SNP ZNF318 ENST00000361428 human ensembl 70_37 -1 known silent c.720 p.I240 0.959 NULL smart_Znf_U1 - no_errors ZNF318 HGNC ZNF32 7580 genome.wustl.edu 37 10 44139801 44139801 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 44139801 44139801 C G SNP ZNF32 ENST00000374433 human ensembl 70_37 -1 known missense c.519 p.Q173H 0.872 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF32 HGNC ZNF326 284695 genome.wustl.edu 37 1 90487841 90487841 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 90487841 90487841 C G SNP ZNF326 ENST00000340281 human ensembl 70_37 +1 known silent c.1338 p.V446 0.996 pfam_AKAP95 pfam_AKAP95 - no_errors ZNF326 HGNC ZNF33A 7581 genome.wustl.edu 37 10 38344896 38344896 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 10 38344896 38344896 G C SNP ZNF33A ENST00000432900 human ensembl 70_37 +1 known missense c.1862 p.G621A 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF33A HGNC ZNF341 84905 genome.wustl.edu 37 20 32345025 32345025 + Missense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 20 32345025 32345025 C A SNP ZNF341 ENST00000375200 human ensembl 70_37 +1 known missense c.813 p.F271L 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF341 HGNC ZNF383 163087 genome.wustl.edu 37 19 37733538 37733538 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 37733538 37733538 C T SNP ZNF383 ENST00000352998 human ensembl 70_37 +1 known missense c.400 p.P134S 0.971 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF383 HGNC ZNF397 84307 genome.wustl.edu 37 18 32823310 32823310 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 18 32823310 32823310 G A SNP ZNF397 ENST00000585800 human ensembl 70_37 +1 known silent c.609 p.L203 0.083 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN - no_errors ZNF397 HGNC ZNF407 55628 genome.wustl.edu 37 18 72775483 72775483 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 18 72775483 72775483 G A SNP ZNF407 ENST00000299687 human ensembl 70_37 +1 known missense c.5806 p.D1936N 0.593 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2 - no_errors ZNF407 HGNC ZNF41 7592 genome.wustl.edu 37 X 47308716 47308716 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 47308716 47308716 C T SNP ZNF41 ENST00000397050 human ensembl 70_37 -1 known silent c.483 p.Q161 0.826 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF41 HGNC ZNF41 7592 genome.wustl.edu 37 X 47308802 47308802 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 47308802 47308802 G C SNP ZNF41 ENST00000397050 human ensembl 70_37 -1 known missense c.397 p.Q133E 0.023 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF41 HGNC ZNF416 55659 genome.wustl.edu 37 19 58084776 58084776 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 58084776 58084776 C G SNP ZNF416 ENST00000196489 human ensembl 70_37 -1 known missense c.496 p.E166Q 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF416 HGNC ZNF418 147686 genome.wustl.edu 37 19 58437871 58437871 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 58437871 58437871 G A SNP ZNF418 ENST00000396147 human ensembl 70_37 -1 known missense c.1678 p.H560Y 0.997 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF418 HGNC ZNF425 155054 genome.wustl.edu 37 7 148801459 148801459 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 148801459 148801459 C G SNP ZNF425 ENST00000378061 human ensembl 70_37 -1 known missense c.1504 p.E502Q 0.017 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors ZNF425 HGNC ZSCAN32 54925 genome.wustl.edu 37 16 3443715 3443715 + Nonsense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 3443715 3443715 G A SNP ZNF434 ENST00000396846 human ensembl 70_37 -1 known nonsense c.466 p.Q156* 0.005 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF434 HGNC ZNF441 126068 genome.wustl.edu 37 19 11891117 11891117 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 11891117 11891117 G C SNP ZNF441 ENST00000357901 human ensembl 70_37 +1 known missense c.478 p.E160Q 0.000 smart_Znf_C2H2-like pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF441 HGNC ZNF449 203523 genome.wustl.edu 37 X 134483047 134483047 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f X 134483047 134483047 G A SNP ZNF449 ENST00000339249 human ensembl 70_37 +1 known missense c.367 p.D123N 0.141 smart_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF449 HGNC ZNF454 285676 genome.wustl.edu 37 5 178391810 178391810 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 5 178391810 178391810 C G SNP ZNF454 ENST00000320129 human ensembl 70_37 +1 known missense c.405 p.I135M 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF454 HGNC ZNF469 84627 genome.wustl.edu 37 16 88498394 88498394 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 88498394 88498394 G A SNP ZNF469 ENST00000437464 human ensembl 70_37 +1 known missense c.4432 p.E1478K 0.041 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF469 HGNC ZNF484 83744 genome.wustl.edu 37 9 95610246 95610246 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 9 95610246 95610246 C T SNP ZNF484 ENST00000395506 human ensembl 70_37 -1 known missense c.829 p.E277K 0.997 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF484 HGNC ZNF527 84503 genome.wustl.edu 37 19 37880761 37880761 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 37880761 37880761 C T SNP ZNF527 ENST00000436120 human ensembl 70_37 +1 known missense c.1810 p.H604Y 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF527 HGNC ZNF528 84436 genome.wustl.edu 37 19 52905262 52905262 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 52905262 52905262 C G SNP ZNF528 ENST00000531472 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors ZNF528 HGNC ZNF546 339327 genome.wustl.edu 37 19 40513284 40513284 + Missense_Mutation SNP A A G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 40513284 40513284 A G SNP ZNF546 ENST00000347077 human ensembl 70_37 +1 known missense c.275 p.N92S 0.909 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF546 HGNC ZNF548 147694 genome.wustl.edu 37 19 57910035 57910035 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 57910035 57910035 G A SNP ZNF548 ENST00000336128 human ensembl 70_37 +1 known missense c.416 p.G139E 0.002 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF548 HGNC ZNF548 147694 genome.wustl.edu 37 19 57910718 57910718 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 57910718 57910718 C T SNP ZNF548 ENST00000336128 human ensembl 70_37 +1 known missense c.1099 p.H367Y 0.966 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF548 HGNC ZNF551 90233 genome.wustl.edu 37 19 58196748 58196748 + Missense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 58196748 58196748 C A SNP ZNF551 ENST00000356715 human ensembl 70_37 +1 known missense c.200 p.S67Y 0.008 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF551 HGNC ZNF558 148156 genome.wustl.edu 37 19 8932741 8932741 + Nonsense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 8932741 8932741 G A SNP ZNF558 ENST00000301475 human ensembl 70_37 -1 known nonsense c.58 p.Q20* 0.010 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF558 HGNC ZNF558 148156 genome.wustl.edu 37 19 8932743 8932743 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 8932743 8932743 G A SNP ZNF558 ENST00000301475 human ensembl 70_37 -1 known missense c.56 p.S19F 0.018 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF558 HGNC ZNF578 147660 genome.wustl.edu 37 19 53014124 53014124 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 53014124 53014124 C T SNP ZNF578 ENST00000421239 human ensembl 70_37 +1 known missense c.490 p.L164F 0.002 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF578 HGNC ZNF578 147660 genome.wustl.edu 37 19 53014490 53014490 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 53014490 53014490 C T SNP ZNF578 ENST00000421239 human ensembl 70_37 +1 known missense c.856 p.P286S 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF578 HGNC ZNF585A 199704 genome.wustl.edu 37 19 37643544 37643544 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 37643544 37643544 G A SNP ZNF585A ENST00000356958 human ensembl 70_37 -1 known silent c.1257 p.F419 0.006 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF585A HGNC ZNF586 54807 genome.wustl.edu 37 19 58325933 58325933 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 58325933 58325933 C G SNP ZNF586 ENST00000598885 human ensembl 70_37 +1 putative silent c.303 p.V101 0.001 pfscan_Krueppel-associated_box pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF586 HGNC ZNF587B 100293516 genome.wustl.edu 37 19 58331298 58331298 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 58331298 58331298 G A SNP ZNF587B ENST00000316462 human ensembl 70_37 +1 known silent c.18 p.P6 0.000 NULL pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF587B HGNC ZNF596 169270 genome.wustl.edu 37 8 192960 192960 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 192960 192960 G A SNP ZNF596 ENST00000308811 human ensembl 70_37 +1 known missense c.86 p.R29K 0.506 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF596 HGNC ZNF619 285267 genome.wustl.edu 37 3 40523818 40523818 + Silent SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 40523818 40523818 G A SNP ZNF619 ENST00000447116 human ensembl 70_37 +1 known silent c.276 p.L92 0.000 pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF619 HGNC ZNF639 51193 genome.wustl.edu 37 3 179051197 179051197 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 3 179051197 179051197 G A SNP ZNF639 ENST00000326361 human ensembl 70_37 +1 known missense c.445 p.E149K 0.999 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF639 HGNC ZNF646 9726 genome.wustl.edu 37 16 31090081 31090081 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 31090081 31090081 C T SNP ZNF646 ENST00000300850 human ensembl 70_37 +1 known silent c.2436 p.V812 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ZNF646 9726 genome.wustl.edu 37 16 31090135 31090135 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 31090135 31090135 C T SNP ZNF646 ENST00000300850 human ensembl 70_37 +1 known silent c.2490 p.F830 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ZNF646 9726 genome.wustl.edu 37 16 31090883 31090883 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 16 31090883 31090883 C G SNP ZNF646 ENST00000300850 human ensembl 70_37 +1 known missense c.3238 p.L1080V 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ZNF655 79027 genome.wustl.edu 37 7 99173862 99173862 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 7 99173862 99173862 G C SNP ZNF655 ENST00000419215 human ensembl 70_37 +1 known rna NULL NULL 0.644 - - - no_errors ZNF655 HGNC ZNF667 63934 genome.wustl.edu 37 19 56953634 56953634 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 56953634 56953634 G C SNP ZNF667 ENST00000342634 human ensembl 70_37 -1 known missense c.1114 p.Q372E 0.001 smart_Znf_C2H2-like pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF667 HGNC ZNF669 79862 genome.wustl.edu 37 1 247265330 247265330 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 247265330 247265330 C G SNP ZNF669 ENST00000343381 human ensembl 70_37 -1 known missense c.347 p.R116T 0.996 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF669 HGNC ZNF692 55657 genome.wustl.edu 37 1 249151477 249151477 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 249151477 249151477 C T SNP ZNF692 ENST00000451251 human ensembl 70_37 -1 known missense c.446 p.R149Q 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF692 HGNC ZNF697 90874 genome.wustl.edu 37 1 120165604 120165604 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 120165604 120165604 G C SNP ZNF697 ENST00000421812 human ensembl 70_37 -1 known missense c.1362 p.N454K 0.990 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF697 HGNC ZNF7 7553 genome.wustl.edu 37 8 146067954 146067954 + Nonsense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 146067954 146067954 C T SNP ZNF7 ENST00000325241 human ensembl 70_37 +1 known nonsense c.1462 p.Q488* 0.997 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF7 HGNC ZNF707 286075 genome.wustl.edu 37 8 144776075 144776075 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 144776075 144776075 G C SNP ZNF707 ENST00000358656 human ensembl 70_37 +1 known missense c.491 p.R164T 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF707 HGNC ZNF707 286075 genome.wustl.edu 37 8 144776287 144776287 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 144776287 144776287 G A SNP ZNF707 ENST00000358656 human ensembl 70_37 +1 known missense c.703 p.E235K 0.006 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF707 HGNC ZNF707 286075 genome.wustl.edu 37 8 144776766 144776766 + RNA SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 8 144776766 144776766 G C SNP ZNF707 ENST00000527561 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ZNF707 HGNC ZNF728 388523 genome.wustl.edu 37 19 23159703 23159703 + Nonsense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 23159703 23159703 G A SNP ZNF728 ENST00000594710 human ensembl 70_37 -1 novel nonsense c.436 p.Q146* 0.037 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF728 HGNC ZNF732 654254 genome.wustl.edu 37 4 265445 265445 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 4 265445 265445 G A SNP ZNF732 ENST00000419098 human ensembl 70_37 -1 known missense c.1201 p.R401W 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF732 HGNC ZNF749 388567 genome.wustl.edu 37 19 57946915 57946915 + RNA SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 57946915 57946915 C G SNP ZNF749 ENST00000597296 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ZNF749 HGNC ZNF776 284309 genome.wustl.edu 37 19 58265783 58265783 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 58265783 58265783 G A SNP ZNF776 ENST00000317178 human ensembl 70_37 +1 known missense c.1285 p.E429K 0.973 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF776 HGNC ZNF805 390980 genome.wustl.edu 37 19 57765301 57765301 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 57765301 57765301 G A SNP ZNF805 ENST00000414468 human ensembl 70_37 +1 known missense c.1114 p.E372K 0.914 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF805 HGNC ZNF833P 401898 genome.wustl.edu 37 19 11762773 11762773 + RNA SNP A A C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 11762773 11762773 A C SNP ZNF833P ENST00000344893 human ensembl 70_37 +1 known rna NULL NULL 0.800 - - - no_errors ZNF833P HGNC ZNF841 284371 genome.wustl.edu 37 19 52569558 52569558 + Nonsense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 52569558 52569558 G C SNP ZNF841 ENST00000389534 human ensembl 70_37 -1 known nonsense c.1577 p.S526* 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF841 HGNC ZNF850 342892 genome.wustl.edu 37 19 37238866 37238866 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 37238866 37238866 G C SNP ZNF850 ENST00000591344 human ensembl 70_37 -1 known missense c.3076 p.Q1026E 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF850 HGNC ZNF99 7652 genome.wustl.edu 37 19 22940786 22940786 + Missense_Mutation SNP A A C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 22940786 22940786 A C SNP ZNF99 ENST00000397104 human ensembl 70_37 -1 known missense c.1652 p.I551S 0.862 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF99 HGNC ZNF99 7652 genome.wustl.edu 37 19 22952025 22952025 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 22952025 22952025 C G SNP ZNF99 ENST00000397104 human ensembl 70_37 -1 known missense c.168 p.E56D 0.081 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF99 HGNC ZSCAN20 7579 genome.wustl.edu 37 1 33960287 33960287 + Silent SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 33960287 33960287 C G SNP ZSCAN20 ENST00000326544 human ensembl 70_37 +1 known silent c.2343 p.L781 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_SANT/Myb,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN20 HGNC ZSCAN4 201516 genome.wustl.edu 37 19 58187617 58187617 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 19 58187617 58187617 G A SNP ZSCAN4 ENST00000318203 human ensembl 70_37 +1 known missense c.104 p.R35K 0.000 superfamily_Retrov_capsid_C pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN4 HGNC ZZZ3 26009 genome.wustl.edu 37 1 78034071 78034071 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3d8718ef-47d1-47af-9dc9-55dec391d913 6eada57d-b416-4e87-bd23-64a7c4b7da4f 1 78034071 78034071 C T SNP ZZZ3 ENST00000370801 human ensembl 70_37 -1 known silent c.2412 p.Q804 1.000 NULL pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Znf_ZZ,pfscan_Myb-like_dom - no_errors ZZZ3 HGNC