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 ABCA13 154664 genome.wustl.edu 37 7 48349706 48349706 + Nonsense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 7 48349706 48349706 C T SNP ABCA13 ENST00000435803 human ensembl 70_37 +1 known nonsense c.9484 p.R3162* 0.009 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ABTB2 25841 genome.wustl.edu 37 11 34189500 34189500 + Missense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 11 34189500 34189500 C T SNP ABTB2 ENST00000435224 human ensembl 70_37 -1 known missense c.1603 p.E535K 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_Histone-fold,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 - no_errors ABTB2 HGNC ACACB 32 genome.wustl.edu 37 12 109625846 109625846 + Missense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 12 109625846 109625846 C T SNP ACACB ENST00000338432 human ensembl 70_37 +1 known missense c.2023 p.R675W 1.000 pfam_Biotin_COase_C,superfamily_Rudment_hybrid_motif,smart_Biotin_COase_C,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 ACSM1 116285 genome.wustl.edu 37 16 20682921 20682921 + Silent SNP C C G TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 16 20682921 20682921 C G SNP ACSM1 ENST00000307493 human ensembl 70_37 -1 known silent c.684 p.G228 0.997 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM1 HGNC ACTL7A 10881 genome.wustl.edu 37 9 111625118 111625118 + Silent SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 9 111625118 111625118 G A SNP ACTL7A ENST00000333999 human ensembl 70_37 +1 known silent c.516 p.P172 0.402 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTL7A HGNC AGBL1 123624 genome.wustl.edu 37 15 86697674 86697674 + Silent SNP A A G TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 15 86697674 86697674 A G SNP AGBL1 ENST00000441037 human ensembl 70_37 +1 known silent c.138 p.G46 1.000 superfamily_ARM-type_fold pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGBL1 HGNC AGBL3 340351 genome.wustl.edu 37 7 134730620 134730620 + Missense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 7 134730620 134730620 C T SNP AGBL3 ENST00000458078 human ensembl 70_37 +1 known missense c.1721 p.S574L 0.894 NULL pfam_Peptidase_M14 - no_errors AGBL3 HGNC AJUBA 84962 genome.wustl.edu 37 14 23445919 23445919 + Nonsense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 14 23445919 23445919 G A SNP AJUBA ENST00000262713 human ensembl 70_37 -1 known nonsense c.1111 p.R371* 0.379 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors AJUBA HGNC AKAP6 9472 genome.wustl.edu 37 14 33292524 33292524 + Missense_Mutation SNP G G C TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 14 33292524 33292524 G C SNP AKAP6 ENST00000280979 human ensembl 70_37 +1 known missense c.5505 p.E1835D 0.000 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ANK2 287 genome.wustl.edu 37 4 114281990 114281990 + Missense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 4 114281990 114281990 G A SNP ANK2 ENST00000357077 human ensembl 70_37 +1 known missense c.10693 p.E3565K 1.000 superfamily_DEATH-like,smart_Death 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 ANKRD62 342850 genome.wustl.edu 37 18 12125918 12125918 + Nonsense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 18 12125918 12125918 C T SNP ANKRD62 ENST00000314074 human ensembl 70_37 +1 known nonsense c.2056 p.Q686* 0.030 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD62 HGNC APOOL 139322 genome.wustl.edu 37 X 84329357 84329357 + Silent SNP A A G TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b X 84329357 84329357 A G SNP APOOL ENST00000373173 human ensembl 70_37 +1 known silent c.678 p.E226 0.114 NULL pfam_Apolipoprotein_O - no_errors APOOL HGNC ARHGAP6 395 genome.wustl.edu 37 X 11157357 11157357 + Missense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b X 11157357 11157357 C T SNP ARHGAP6 ENST00000337414 human ensembl 70_37 -1 known missense c.2551 p.E851K 0.088 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP6 HGNC ARMCX2 9823 genome.wustl.edu 37 X 100910679 100910679 + Missense_Mutation SNP G G C TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b X 100910679 100910679 G C SNP ARMCX2 ENST00000328766 human ensembl 70_37 -1 known missense c.1896 p.F632L 1.000 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo - no_errors ARMCX2 HGNC ATP7A 538 genome.wustl.edu 37 X 77289250 77289250 + Missense_Mutation SNP G G T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b X 77289250 77289250 G T SNP ATP7A ENST00000341514 human ensembl 70_37 +1 known missense c.3442 p.V1148F 0.992 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_heavy-metal pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_ATPase_P-typ_cat/Cu-transptr,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_HG_scavenger,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr,tigrfam_HMA_Cu_ion-bd - no_errors ATP7A HGNC ATRNL1 26033 genome.wustl.edu 37 10 116919962 116919962 + Nonsense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 10 116919962 116919962 C T SNP ATRNL1 ENST00000355044 human ensembl 70_37 +1 known nonsense c.991 p.Q331* 1.000 NULL pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB,smart_Plexin-like,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRNL1 HGNC ATXN7L2 127002 genome.wustl.edu 37 1 110032595 110032595 + Missense_Mutation SNP T T C TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 1 110032595 110032595 T C SNP ATXN7L2 ENST00000369870 human ensembl 70_37 +1 known missense c.1081 p.C361R 0.701 NULL pfam_SCA7_dom - no_errors ATXN7L2 HGNC BAI2 576 genome.wustl.edu 37 1 32196648 32196648 + Missense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 1 32196648 32196648 G A SNP BAI2 ENST00000373658 human ensembl 70_37 -1 known missense c.4133 p.P1378L 0.988 NULL 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 BCL2L11 10018 genome.wustl.edu 37 2 111907693 111907693 + Missense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 2 111907693 111907693 G A SNP BCL2L11 ENST00000393256 human ensembl 70_37 +1 known missense c.467 p.G156E 1.000 pfam_Bcl-x_interacting,pirsf_Bcl-2-like_11 pfam_Bcl-x_interacting,pfam_Apoptosis_Bim_N,pirsf_Bcl-2-like_11 - no_errors BCL2L11 HGNC BCLAF1 9774 genome.wustl.edu 37 6 136582162 136582162 + RNA SNP G G T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 6 136582162 136582162 G T SNP BCLAF1 ENST00000529917 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors BCLAF1 HGNC BEST3 144453 genome.wustl.edu 37 12 70048836 70048836 + Missense_Mutation SNP C C G TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 12 70048836 70048836 C G SNP BEST3 ENST00000330891 human ensembl 70_37 -1 known missense c.1858 p.D620H 0.302 NULL pfam_Bestrophin/UPF0187 - no_errors BEST3 HGNC C12orf54 121273 genome.wustl.edu 37 12 48882264 48882265 + RNA INS - - A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 12 48882264 48882265 - A INS C12orf54 ENST00000548913 human ensembl 70_37 +1 known rna NULL NULL 0.096:0.084 - - - no_errors C12orf54 HGNC C12orf55 144535 genome.wustl.edu 37 12 97073515 97073515 + Missense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 12 97073515 97073515 C T SNP C12orf55 ENST00000342887 human ensembl 70_37 +1 known missense c.976 p.L326F 0.998 NULL NULL - no_errors C12orf55 HGNC C19orf38 255809 genome.wustl.edu 37 19 10959203 10959203 + Missense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 19 10959203 10959203 C T SNP C19orf38 ENST00000397820 human ensembl 70_37 +1 known missense c.19 p.L7F 0.153 NULL NULL - no_errors C19orf38 HGNC C1orf191 619518 genome.wustl.edu 37 1 54703787 54703787 + Silent SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 1 54703787 54703787 G A SNP C1orf191 ENST00000361350 human ensembl 70_37 +1 known silent c.48 p.V16 0.000 NULL NULL - no_errors C1orf191 HGNC C4orf46 201725 genome.wustl.edu 37 4 159592830 159592830 + Missense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 4 159592830 159592830 G A SNP C4orf46 ENST00000379205 human ensembl 70_37 -1 known missense c.124 p.P42S 0.088 NULL NULL - no_errors C4orf46 HGNC CACNA1I 8911 genome.wustl.edu 37 22 40061971 40061971 + Missense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 22 40061971 40061971 G A SNP CACNA1I ENST00000336649 human ensembl 70_37 +1 known missense c.4082 p.R1361H 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1I HGNC CASK 8573 genome.wustl.edu 37 X 41416352 41416352 + Missense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b X 41416352 41416352 C T SNP CASK ENST00000378163 human ensembl 70_37 -1 known missense c.1739 p.R580K 1.000 superfamily_SH3_domain,superfamily_PDZ pfam_Prot_kinase_cat_dom,pfam_Guanylate_kin,pfam_L27_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Guanylate_kin - no_errors CASK HGNC CLCN4 1183 genome.wustl.edu 37 X 10174519 10174519 + Missense_Mutation SNP C C A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b X 10174519 10174519 C A SNP CLCN4 ENST00000380833 human ensembl 70_37 +1 known missense c.677 p.P226Q 1.000 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-4 - no_errors CLCN4 HGNC CLCN4 1183 genome.wustl.edu 37 X 10174520 10174520 + Silent SNP G G C TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b X 10174520 10174520 G C SNP CLCN4 ENST00000380833 human ensembl 70_37 +1 known silent c.678 p.P226 0.061 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-4 - no_errors CLCN4 HGNC COL18A1 80781 genome.wustl.edu 37 21 46925806 46925806 + Missense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 21 46925806 46925806 G A SNP COL18A1 ENST00000359759 human ensembl 70_37 +1 known missense c.4387 p.E1463K 0.982 pfam_Collagenase_NC10/endostatin pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC COL8A1 1295 genome.wustl.edu 37 3 99509748 99509748 + Missense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 3 99509748 99509748 G A SNP COL8A1 ENST00000261037 human ensembl 70_37 +1 known missense c.222 p.M74I 1.000 NULL pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL8A1 HGNC CTNNA3 29119 genome.wustl.edu 37 10 67680320 67680320 + Missense_Mutation SNP A A G TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 10 67680320 67680320 A G SNP CTNNA3 ENST00000373744 human ensembl 70_37 -1 known missense c.2456 p.V819A 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA3 HGNC CXCR4 7852 genome.wustl.edu 37 2 136872498 136872498 + Nonsense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 2 136872498 136872498 G A SNP CXCR4 ENST00000409817 human ensembl 70_37 -1 known nonsense c.1012 p.R338* 1.000 prints_Chemokine_CXCR4 pfam_GPCR_Rhodpsn,pfam_Chemokine_CXCR4_N,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR4,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt - no_errors CXCR4 HGNC CYP17A1 1586 genome.wustl.edu 37 10 104592361 104592361 + Missense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 10 104592361 104592361 C T SNP CYP17A1 ENST00000369887 human ensembl 70_37 -1 known missense c.1046 p.R349H 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 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 DCAF8L2 347442 genome.wustl.edu 37 X 27766066 27766066 + Missense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b X 27766066 27766066 C T SNP DCAF8L2 ENST00000451261 human ensembl 70_37 +1 known missense c.1054 p.R352W 0.002 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8L2 HGNC DCDC5 100506627 genome.wustl.edu 37 11 30915926 30915926 + Nonsense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 11 30915926 30915926 G A SNP DCDC5 ENST00000406071 human ensembl 70_37 -1 known nonsense c.976 p.R326* 0.998 NULL superfamily_Doublecortin_dom - no_errors DCDC5 HGNC DDR2 4921 genome.wustl.edu 37 1 162748502 162748502 + Nonsense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 1 162748502 162748502 C T SNP DDR2 ENST00000367921 human ensembl 70_37 +1 known nonsense c.2416 p.R806* 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_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DDR2 HGNC DNAH17 8632 genome.wustl.edu 37 17 76488833 76488833 + Silent SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 17 76488833 76488833 G A SNP DNAH17 ENST00000389840 human ensembl 70_37 -1 known silent c.6381 p.L2127 0.997 pfam_ATPase_dyneun-rel_AAA pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC DNAJC16 23341 genome.wustl.edu 37 1 15863003 15863003 + Missense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 1 15863003 15863003 G A SNP DNAJC16 ENST00000375847 human ensembl 70_37 +1 known missense c.268 p.D90N 1.000 pfam_DnaJ_N,superfamily_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ pfam_DnaJ_N,pfam_Thioredoxin_domain,superfamily_DnaJ_N,superfamily_Thioredoxin-like_fold,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC16 HGNC DNAJC30 84277 genome.wustl.edu 37 7 73097088 73097088 + Silent SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 7 73097088 73097088 G A SNP DNAJC30 ENST00000395176 human ensembl 70_37 -1 known silent c.666 p.I222 0.004 NULL pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC30 HGNC DSEL 92126 genome.wustl.edu 37 18 65180658 65180658 + Silent SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 18 65180658 65180658 G A SNP DSEL ENST00000310045 human ensembl 70_37 -1 known silent c.1218 p.L406 0.610 NULL pfam_Sulfotransferase_dom,superfamily_Chondroitin_lyas - no_errors DSEL HGNC DUSP27 92235 genome.wustl.edu 37 1 167097688 167097688 + Missense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 1 167097688 167097688 G A SNP DUSP27 ENST00000271385 human ensembl 70_37 +1 known missense c.3320 p.R1107K 0.015 NULL pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA - no_errors DUSP27 HGNC EFCAB4B 84766 genome.wustl.edu 37 12 3782683 3782683 + Missense_Mutation SNP G G T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 12 3782683 3782683 G T SNP EFCAB4B ENST00000440314 human ensembl 70_37 -1 known missense c.600 p.F200L 1.000 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_EF_hand_Ca-bd,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,pfscan_EF_HAND_2,tigrfam_Small_GTP-bd_dom - no_errors EFCAB4B HGNC EIF4A1 1973 genome.wustl.edu 37 17 7479841 7479841 + Splice_Site SNP G G T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 17 7479841 7479841 G T SNP EIF4A1 ENST00000293831 human ensembl 70_37 +1 known splice_site c.346-1 e5-1 1.000 - - - no_errors EIF4A1 HGNC ENSG00000235704 0 genome.wustl.edu 37 22 20378434 20378434 + RNA SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 22 20378434 20378434 G A SNP ENSG00000235704 ENST00000426653 human ensembl 70_37 +1 known rna NULL NULL 0.589 - - - no_errors AC023490.2 Clone_based_vega_gene ERCC4 2072 genome.wustl.edu 37 16 14026059 14026059 + Missense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 16 14026059 14026059 G A SNP ERCC4 ENST00000311895 human ensembl 70_37 +1 known missense c.1019 p.R340Q 1.000 tigrfam_Rad1 pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_ERCC4_domain,tigrfam_Rad1 - no_errors ERCC4 HGNC EVX1-AS 101410536 genome.wustl.edu 37 7 27282448 27282448 + RNA SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 7 27282448 27282448 C T SNP EVX1-AS ENST00000519050 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors EVX1-AS HGNC FAM120B 84498 genome.wustl.edu 37 6 170627030 170627030 + Silent SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 6 170627030 170627030 C T SNP FAM120B ENST00000537664 human ensembl 70_37 +1 known silent c.621 p.I207 0.978 NULL NULL - no_errors FAM120B HGNC FAM208B 54906 genome.wustl.edu 37 10 5788751 5788751 + Missense_Mutation SNP T T G TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 10 5788751 5788751 T G SNP FAM208B ENST00000328090 human ensembl 70_37 +1 known missense c.3367 p.Y1123D 0.009 NULL pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC FAM71A 149647 genome.wustl.edu 37 1 212799050 212799050 + Missense_Mutation SNP G G T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 1 212799050 212799050 G T SNP FAM71A ENST00000294829 human ensembl 70_37 +1 known missense c.831 p.E277D 0.001 NULL pfam_DUF3699 - no_errors FAM71A HGNC FBXO18 84893 genome.wustl.edu 37 10 5945069 5945069 + Nonsense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 10 5945069 5945069 C T SNP FBXO18 ENST00000379999 human ensembl 70_37 +1 known nonsense c.241 p.Q81* 0.989 NULL pfam_UvrD-like_ATP-bd,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO18 HGNC FCGBP 8857 genome.wustl.edu 37 19 40366170 40366170 + Silent SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 19 40366170 40366170 C T SNP FCGBP ENST00000221347 human ensembl 70_37 -1 known silent c.14064 p.A4688 0.000 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 FHL1 2273 genome.wustl.edu 37 X 135291510 135291510 + Missense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b X 135291510 135291510 G A SNP FHL1 ENST00000345434 human ensembl 70_37 +1 known missense c.797 p.R266Q 1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors FHL1 HGNC FOXP1 27086 genome.wustl.edu 37 3 71355068 71355068 + RNA SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 3 71355068 71355068 G A SNP FOXP1 ENST00000470112 human ensembl 70_37 -1 known rna NULL NULL 0.996 - - - no_errors FOXP1 HGNC FSIP2 401024 genome.wustl.edu 37 2 186671174 186671174 + Missense_Mutation SNP T T C TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 2 186671174 186671174 T C SNP FSIP2 ENST00000343098 human ensembl 70_37 +1 known missense c.17408 p.V5803A 0.000 NULL NULL - no_errors FSIP2 HGNC FTCD 10841 genome.wustl.edu 37 21 47558551 47558551 + Missense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 21 47558551 47558551 C T SNP FTCD ENST00000355384 human ensembl 70_37 -1 known missense c.1270 p.G424S 0.001 NULL pfam_Formiminotransferase_N,pfam_Formiminotransferase_C,pfam_Cyclodeamin/CycHdrlase,superfamily_FormiminoTrfase_N/C_subdom,superfamily_Cyclodeamin/CycHdrlase,tigrfam_Formiminotransferase_cat - no_errors FTCD HGNC GABRG2 2566 genome.wustl.edu 37 5 161495040 161495040 + Missense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 5 161495040 161495040 C T SNP GABRG2 ENST00000356592 human ensembl 70_37 +1 known missense c.35 p.S12L 0.886 prints_GABBAg2_rcpt 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_GABBAg2_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG2 HGNC GIGYF1 64599 genome.wustl.edu 37 7 100284015 100284015 + Missense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 7 100284015 100284015 G A SNP GIGYF1 ENST00000275732 human ensembl 70_37 -1 known missense c.736 p.R246W 0.997 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF1 HGNC GLIPR1 11010 genome.wustl.edu 37 12 75892666 75892666 + Missense_Mutation SNP T T C TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 12 75892666 75892666 T C SNP GLIPR1 ENST00000266659 human ensembl 70_37 +1 known missense c.709 p.F237L 0.909 NULL pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1,prints_V5_allergen - no_errors GLIPR1 HGNC GPR149 344758 genome.wustl.edu 37 3 154145322 154145322 + Missense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 3 154145322 154145322 G A SNP GPR149 ENST00000389740 human ensembl 70_37 -1 known missense c.1157 p.A386V 0.153 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR149 HGNC GPR17 2840 genome.wustl.edu 37 2 128409567 128409567 + RNA SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 2 128409567 128409567 C T SNP GPR17 ENST00000486700 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors GPR17 HGNC GRID2 2895 genome.wustl.edu 37 4 94006335 94006335 + Nonsense_Mutation SNP C C G TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 4 94006335 94006335 C G SNP GRID2 ENST00000282020 human ensembl 70_37 +1 known nonsense c.434 p.S145* 0.907 pfam_ANF_lig-bd_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID2 HGNC GVINP1 387751 genome.wustl.edu 37 11 6740009 6740009 + RNA SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 11 6740009 6740009 C T SNP GVINP1 ENST00000526769 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors GVINP1 HGNC HABP4 22927 genome.wustl.edu 37 9 99227724 99227724 + Silent SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 9 99227724 99227724 C T SNP HABP4 ENST00000375249 human ensembl 70_37 +1 known silent c.618 p.D206 0.028 NULL pfam_HABP4_PAIRBP1-bd - no_errors HABP4 HGNC HK2 3099 genome.wustl.edu 37 2 75107455 75107455 + Silent SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 2 75107455 75107455 C T SNP HK2 ENST00000290573 human ensembl 70_37 +1 known silent c.1329 p.L443 1.000 pfam_Hexokinase_C pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK2 HGNC HNF1B 6928 genome.wustl.edu 37 17 36093702 36093702 + Silent SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 17 36093702 36093702 G A SNP HNF1B ENST00000225893 human ensembl 70_37 -1 known silent c.657 p.S219 1.000 NULL pfam_HNF1b_C,pfam_HNF-1_N,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeodomain,pfscan_Homeodomain - no_errors HNF1B HGNC HS6ST2 90161 genome.wustl.edu 37 X 131762918 131762918 + Missense_Mutation SNP T T C TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b X 131762918 131762918 T C SNP HS6ST2 ENST00000521489 human ensembl 70_37 -1 known missense c.1271 p.N424S 1.000 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors HS6ST2 HGNC HS6ST2 90161 genome.wustl.edu 37 X 132090974 132090974 + Missense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b X 132090974 132090974 G A SNP HS6ST2 ENST00000521489 human ensembl 70_37 -1 known missense c.809 p.P270L 1.000 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors HS6ST2 HGNC IFIT2 3433 genome.wustl.edu 37 10 91066443 91066443 + Missense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 10 91066443 91066443 C T SNP IFIT2 ENST00000371826 human ensembl 70_37 +1 known missense c.730 p.P244S 0.921 pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFIT2 HGNC IL12RB2 3595 genome.wustl.edu 37 1 67861644 67861644 + Missense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 1 67861644 67861644 G A SNP IL12RB2 ENST00000262345 human ensembl 70_37 +1 known missense c.2461 p.E821K 0.820 NULL pfam_Fibronectin_type3,pfam_IgC2-like_lig-bd,pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL12RB2 HGNC IL20 50604 genome.wustl.edu 37 1 207039699 207039699 + Missense_Mutation SNP A A G TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 1 207039699 207039699 A G SNP IL20 ENST00000367096 human ensembl 70_37 +1 known missense c.215 p.Q72R 1.000 pfam_Interleukin-10/19/20/24,superfamily_4_helix_cytokine-like_core,smart_Interleukin-10/19/20/24 pfam_Interleukin-10/19/20/24,superfamily_4_helix_cytokine-like_core,smart_Interleukin-10/19/20/24,prints_Interleukin-20,prints_Interleukin-24 - no_errors IL20 HGNC IL26 55801 genome.wustl.edu 37 12 68619010 68619010 + Silent SNP A A G TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 12 68619010 68619010 A G SNP IL26 ENST00000229134 human ensembl 70_37 -1 known silent c.282 p.F94 1.000 pfam_Interleukin-10/19/20/24,superfamily_4_helix_cytokine-like_core pfam_Interleukin-10/19/20/24,superfamily_4_helix_cytokine-like_core - no_errors IL26 HGNC INTS6 26512 genome.wustl.edu 37 13 52025274 52025274 + Missense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 13 52025274 52025274 C T SNP INTS6 ENST00000311234 human ensembl 70_37 -1 known missense c.226 p.E76K 1.000 pfam_VWF_A,pfscan_VWF_A pfam_VWF_A,pfscan_VWF_A - no_errors INTS6 HGNC IPO4 79711 genome.wustl.edu 37 14 24653559 24653559 + Nonsense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 14 24653559 24653559 G A SNP IPO4 ENST00000354464 human ensembl 70_37 -1 known nonsense c.1702 p.Q568* 1.000 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_HEAT_type_2,pfscan_Importin-beta_N - no_errors IPO4 HGNC IRAK3 11213 genome.wustl.edu 37 12 66605255 66605255 + Missense_Mutation SNP C C G TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 12 66605255 66605255 C G SNP IRAK3 ENST00000261233 human ensembl 70_37 +1 known missense c.466 p.Q156E 0.995 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Death,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Death,pfscan_Prot_kinase_cat_dom - no_errors IRAK3 HGNC ITGB3 3690 genome.wustl.edu 37 17 45405719 45405719 + Missense_Mutation SNP G G C TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 17 45405719 45405719 G C SNP ITGB3 ENST00000435993 human ensembl 70_37 +1 known missense c.2245 p.D749H 0.992 NULL pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_EGF_extracell,pfam_Integrin_bsu_cyt,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB3 HGNC ITGB4 3691 genome.wustl.edu 37 17 73726984 73726984 + Nonsense_Mutation SNP C C G TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 17 73726984 73726984 C G SNP ITGB4 ENST00000200181 human ensembl 70_37 +1 known nonsense c.1031 p.S344* 0.994 pfam_Integrin_bsu_N,smart_Integrin_bsu_N,pirsf_Integrin_bsu-4,prints_Integrin_bsu pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,pirsf_Integrin_bsu-4,pfscan_Fibronectin_type3,prints_Integrin_bsu - no_errors ITGB4 HGNC ITPKB 3707 genome.wustl.edu 37 1 226822561 226822561 + Missense_Mutation SNP G G C TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 1 226822561 226822561 G C SNP ITPKB ENST00000272117 human ensembl 70_37 -1 known missense c.2652 p.I884M 1.000 pfam_IPK pfam_IPK - no_errors ITPKB HGNC KCNN2 3781 genome.wustl.edu 37 5 113698719 113698719 + Missense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 5 113698719 113698719 G A SNP KCNN2 ENST00000264773 human ensembl 70_37 +1 known missense c.247 p.G83R 1.000 NULL pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_Ion_trans_2,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN2 HGNC KDM5C 8242 genome.wustl.edu 37 X 53253976 53253976 + Silent SNP C C G TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b X 53253976 53253976 C G SNP KDM5C ENST00000375401 human ensembl 70_37 -1 known silent c.96 p.A32 0.997 pfam_TF_JmjN,smart_TF_JmjN,pfscan_TF_JmjN pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5C HGNC KIAA1217 56243 genome.wustl.edu 37 10 24820871 24820871 + Silent SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 10 24820871 24820871 G A SNP KIAA1217 ENST00000376454 human ensembl 70_37 +1 known silent c.3195 p.T1065 0.434 NULL pfam_AIP3_C - no_errors KIAA1217 HGNC KIAA1279 26128 genome.wustl.edu 37 10 70775881 70775881 + Silent SNP A A G TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 10 70775881 70775881 A G SNP KIAA1279 ENST00000361983 human ensembl 70_37 +1 known silent c.1575 p.R525 1.000 pfam_KBP pfam_KBP - no_errors KIAA1279 HGNC KRT85 3891 genome.wustl.edu 37 12 52760950 52760950 + Silent SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 12 52760950 52760950 G A SNP KRT85 ENST00000257901 human ensembl 70_37 -1 known silent c.240 p.F80 0.855 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT85 HGNC KRTAP4-8 728224 genome.wustl.edu 37 17 39253891 39253891 + Missense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 17 39253891 39253891 C T SNP KRTAP4-8 ENST00000333822 human ensembl 70_37 -1 known missense c.446 p.C149Y 0.977 NULL pfam_Keratin-assoc - no_errors KRTAP4-8 HGNC LEPR 3953 genome.wustl.edu 37 1 66036280 66036280 + Missense_Mutation SNP G G C TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 1 66036280 66036280 G C SNP LEPR ENST00000349533 human ensembl 70_37 +1 known missense c.165 p.K55N 0.076 NULL pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LEPR HGNC LHFP 10186 genome.wustl.edu 37 13 40175136 40175136 + Missense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 13 40175136 40175136 G A SNP LHFP ENST00000379589 human ensembl 70_37 -1 known missense c.218 p.S73F 1.000 pfam_Lipome_HGMIC_fus_partner-like pfam_Lipome_HGMIC_fus_partner-like - no_errors LHFP HGNC LIMA1 51474 genome.wustl.edu 37 12 50571413 50571413 + Missense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 12 50571413 50571413 C T SNP LIMA1 ENST00000394943 human ensembl 70_37 -1 known missense c.1717 p.D573N 0.997 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMA1 HGNC LIPK 643414 genome.wustl.edu 37 10 90490853 90490853 + Missense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 10 90490853 90490853 G A SNP LIPK ENST00000404190 human ensembl 70_37 +1 known missense c.337 p.V113M 1.000 pfam_AB_hydrolase_1 pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1 - no_errors LIPK HGNC LMAN1 3998 genome.wustl.edu 37 18 57020489 57020489 + Missense_Mutation SNP C C G TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 18 57020489 57020489 C G SNP LMAN1 ENST00000251047 human ensembl 70_37 -1 known missense c.584 p.R195P 1.000 pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf,superfamily_HMG_superfamily - no_errors LMAN1 HGNC LOC284751 284751 genome.wustl.edu 37 20 48909282 48909282 + RNA SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 20 48909282 48909282 G A SNP LOC284751 ENST00000371639 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-290F20.1 Clone_based_vega_gene LOXL4 84171 genome.wustl.edu 37 10 100013465 100013465 + Silent SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 10 100013465 100013465 G A SNP LOXL4 ENST00000260702 human ensembl 70_37 -1 known silent c.1680 p.H560 0.474 pfam_Lysyl_oxidase,prints_Lysyl_oxidase pfam_Lysyl_oxidase,pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Lysyl_oxidase,prints_Srcr_rcpt - no_errors LOXL4 HGNC LRRK1 79705 genome.wustl.edu 37 15 101565148 101565148 + Silent SNP C C G TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 15 101565148 101565148 C G SNP LRRK1 ENST00000388948 human ensembl 70_37 +1 known silent c.2208 p.L736 0.966 pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase 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 LRRTM4 80059 genome.wustl.edu 37 2 77745633 77745633 + Missense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 2 77745633 77745633 C T SNP LRRTM4 ENST00000409911 human ensembl 70_37 -1 known missense c.1365 p.M455I 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM4 HGNC MACF1 23499 genome.wustl.edu 37 1 39802262 39802262 + Silent SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 1 39802262 39802262 C T SNP MACF1 ENST00000567887 human ensembl 70_37 +1 putative silent c.10113 p.F3371 0.000 superfamily_RNaseH-like_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_dom,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 MACF1 HGNC MAPKBP1 23005 genome.wustl.edu 37 15 42116052 42116052 + Nonsense_Mutation SNP G G T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 15 42116052 42116052 G T SNP MAPKBP1 ENST00000456763 human ensembl 70_37 +1 known nonsense c.4024 p.E1342* 0.984 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors MAPKBP1 HGNC MMP12 4321 genome.wustl.edu 37 11 102738746 102738746 + RNA SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 11 102738746 102738746 C T SNP MMP12 ENST00000326227 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MMP12 HGNC MPP1 4354 genome.wustl.edu 37 X 154033047 154033047 + Missense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b X 154033047 154033047 C T SNP MPP1 ENST00000439370 human ensembl 70_37 -1 known missense c.158 p.G53E 0.000 NULL NULL - no_errors MPP1 HGNC MRPS22 56945 genome.wustl.edu 37 3 139063000 139063000 + Missense_Mutation SNP C C G TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 3 139063000 139063000 C G SNP MRPS22 ENST00000310776 human ensembl 70_37 +1 known missense c.132 p.F44L 0.009 NULL pfam_Ribosomal_S22_mit - no_errors MRPS22 HGNC MTRR 4552 genome.wustl.edu 37 5 7870902 7870902 + Missense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 5 7870902 7870902 G A SNP MTRR ENST00000264668 human ensembl 70_37 +1 known missense c.76 p.E26K 0.003 NULL pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors MTRR HGNC MUC4 4585 genome.wustl.edu 37 3 195510230 195510230 + Frame_Shift_Del DEL C C - TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 3 195510230 195510230 C - DEL MUC4 ENST00000463781 human ensembl 70_37 -1 known frame_shift_del c.8221 p.E2741fs 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 MYBPH 4608 genome.wustl.edu 37 1 203143635 203143635 + Missense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 1 203143635 203143635 C T SNP MYBPH ENST00000255416 human ensembl 70_37 -1 known missense c.431 p.R144H 0.998 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYBPH HGNC NIF3L1 60491 genome.wustl.edu 37 2 201756712 201756712 + Missense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 2 201756712 201756712 G A SNP NIF3L1 ENST00000409020 human ensembl 70_37 +1 known missense c.46 p.V16I 0.000 pirsf_UCP037490_NIF3_euk pfam_Interacting_NIF3,superfamily_Interacting_NIF3,pirsf_UCP037490_NIF3_euk,tigrfam_Interacting_NIF3 - no_errors NIF3L1 HGNC NOTCH1 4851 genome.wustl.edu 37 9 139412684 139412684 + Missense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 9 139412684 139412684 C T SNP NOTCH1 ENST00000277541 human ensembl 70_37 -1 known missense c.1160 p.C387Y 1.000 smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,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_1,prints_Notch_dom - no_errors NOTCH1 HGNC NRAP 4892 genome.wustl.edu 37 10 115374013 115374013 + Missense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 10 115374013 115374013 G A SNP NRAP ENST00000369358 human ensembl 70_37 -1 known missense c.3253 p.L1085F 1.000 NULL pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin - no_errors NRAP HGNC NYAP1 222950 genome.wustl.edu 37 7 100086224 100086224 + Missense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 7 100086224 100086224 G A SNP NYAP1 ENST00000423930 human ensembl 70_37 +1 known missense c.880 p.A294T 0.018 NULL NULL - no_errors NYAP1 HGNC OBFC1 79991 genome.wustl.edu 37 10 105659861 105659861 + Missense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 10 105659861 105659861 C T SNP OBFC1 ENST00000224950 human ensembl 70_37 -1 known missense c.416 p.R139H 0.101 pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pirsf_CST_STN1 pfam_DUF1879_CST_STN1,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pirsf_CST_STN1 - no_errors OBFC1 HGNC OR2T6 254879 genome.wustl.edu 37 1 248551096 248551096 + Missense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 1 248551096 248551096 C T SNP OR2T6 ENST00000355728 human ensembl 70_37 +1 known missense c.187 p.L63F 1.000 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 OR2T6 HGNC OR2T8 343172 genome.wustl.edu 37 1 248084323 248084323 + Missense_Mutation SNP G G C TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 1 248084323 248084323 G C SNP OR2T8 ENST00000319968 human ensembl 70_37 +1 known missense c.4 p.E2Q 0.046 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T8 HGNC OR4F6 390648 genome.wustl.edu 37 15 102346600 102346600 + Missense_Mutation SNP G G C TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 15 102346600 102346600 G C SNP OR4F6 ENST00000328882 human ensembl 70_37 +1 known missense c.678 p.Q226H 0.001 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 OR4F6 HGNC OR51J1 79470 genome.wustl.edu 37 11 5424757 5424757 + Missense_Mutation SNP G G C TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 11 5424757 5424757 G C SNP OR51J1 ENST00000332043 human ensembl 70_37 +1 known missense c.931 p.E311Q 0.023 NULL pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors OR51J1 HGNC OR52J3 119679 genome.wustl.edu 37 11 5068144 5068144 + Missense_Mutation SNP C C A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 11 5068144 5068144 C A SNP OR52J3 ENST00000380370 human ensembl 70_37 +1 known missense c.389 p.A130D 0.050 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 OR52J3 HGNC PANX3 116337 genome.wustl.edu 37 11 124481634 124481634 + Splice_Site SNP G G T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 11 124481634 124481634 G T SNP PANX3 ENST00000284288 human ensembl 70_37 +1 known splice_site c.181+1 e1+1 1.000 - - - no_errors PANX3 HGNC PATE4 399968 genome.wustl.edu 37 11 125708251 125708251 + Missense_Mutation SNP G G C TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 11 125708251 125708251 G C SNP PATE4 ENST00000457514 human ensembl 70_37 +1 known missense c.226 p.E76Q 0.008 NULL NULL - no_errors PATE4 HGNC PCDHGA1 56114 genome.wustl.edu 37 5 140712541 140712541 + Missense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 5 140712541 140712541 C T SNP PCDHGA1 ENST00000517417 human ensembl 70_37 +1 known missense c.2290 p.R764W 0.001 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA1 HGNC PCDHGB3 56102 genome.wustl.edu 37 5 140750824 140750824 + Missense_Mutation SNP T T C TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 5 140750824 140750824 T C SNP PCDHGB3 ENST00000576222 human ensembl 70_37 +1 known missense c.863 p.V288A 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 PCDHGB3 HGNC PCED1A 64773 genome.wustl.edu 37 20 2816721 2816721 + Missense_Mutation SNP T T C TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 20 2816721 2816721 T C SNP PCED1A ENST00000360652 human ensembl 70_37 -1 known missense c.1081 p.N361D 0.027 NULL superfamily_Esterase_SGNH_hydro-type - no_errors PCED1A HGNC PCSK5 5125 genome.wustl.edu 37 9 78799601 78799601 + Missense_Mutation SNP G G T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 9 78799601 78799601 G T SNP PCSK5 ENST00000545128 human ensembl 70_37 +1 known missense c.2210 p.C737F 1.000 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 PIK3CA 5290 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_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 PLXNA4 91584 genome.wustl.edu 37 7 131848964 131848964 + Silent SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 7 131848964 131848964 G A SNP PLXNA4 ENST00000321063 human ensembl 70_37 -1 known silent c.4437 p.G1479 0.001 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot 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 PLXNA4 HGNC PNLIPRP3 119548 genome.wustl.edu 37 10 118225615 118225615 + Nonsense_Mutation SNP G G T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 10 118225615 118225615 G T SNP PNLIPRP3 ENST00000369230 human ensembl 70_37 +1 known nonsense c.862 p.E288* 0.066 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase,prints_Lipase_panc - no_errors PNLIPRP3 HGNC PRDM11 56981 genome.wustl.edu 37 11 45204615 45204615 + Missense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 11 45204615 45204615 G A SNP PRDM11 ENST00000263765 human ensembl 70_37 +1 known missense c.529 p.G177S 0.999 pfscan_SET_dom pfscan_SET_dom - no_errors PRDM11 HGNC PRSS12 8492 genome.wustl.edu 37 4 119259365 119259365 + Missense_Mutation SNP C C G TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 4 119259365 119259365 C G SNP PRSS12 ENST00000296498 human ensembl 70_37 -1 known missense c.607 p.D203H 0.177 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,pfam_Peptidase_S1_S6,pfam_Kringle,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Srcr_rcpt-rel,superfamily_Kringle-like,smart_Kringle,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pfscan_Kringle,pfscan_Srcr_rcpt,pfscan_Peptidase_S1_S6,prints_Srcr_rcpt,prints_Peptidase_S1A - no_errors PRSS12 HGNC PTGFRN 5738 genome.wustl.edu 37 1 117532752 117532752 + RNA SNP G G T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 1 117532752 117532752 G T SNP PTGFRN ENST00000497385 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors PTGFRN HGNC PTPRB 5787 genome.wustl.edu 37 12 70946731 70946731 + Missense_Mutation SNP G G T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 12 70946731 70946731 G T SNP PTPRB ENST00000334414 human ensembl 70_37 -1 known missense c.5213 p.S1738Y 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC PTPRC 5788 genome.wustl.edu 37 1 198704312 198704314 + In_Frame_Del DEL TGT TGT - TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 TGT TGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 1 198704312 198704314 TGT - DEL PTPRC ENST00000442510 human ensembl 70_37 +1 known in_frame_del c.2334_2336 p.V781in_frame_del 0.992:0.992:0.990 pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRC HGNC RBMXL2 27288 genome.wustl.edu 37 11 7111523 7111523 + Missense_Mutation SNP G G C TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 11 7111523 7111523 G C SNP RBMXL2 ENST00000306904 human ensembl 70_37 +1 known missense c.1172 p.R391T 1.000 NULL pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL2 HGNC REXO1 57455 genome.wustl.edu 37 19 1826912 1826912 + Missense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 19 1826912 1826912 C T SNP REXO1 ENST00000170168 human ensembl 70_37 -1 known missense c.1876 p.V626I 0.998 NULL pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors REXO1 HGNC RFX6 222546 genome.wustl.edu 37 6 117240424 117240424 + Missense_Mutation SNP C C G TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 6 117240424 117240424 C G SNP RFX6 ENST00000332958 human ensembl 70_37 +1 known missense c.1147 p.L383V 0.988 NULL pfam_DNA-bd_RFX - no_errors RFX6 HGNC RXFP2 122042 genome.wustl.edu 37 13 32367059 32367059 + Silent SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 13 32367059 32367059 C T SNP RXFP2 ENST00000298386 human ensembl 70_37 +1 known silent c.1620 p.V540 0.203 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt - no_errors RXFP2 HGNC SEC24D 9871 genome.wustl.edu 37 4 119738426 119738426 + Missense_Mutation SNP G G T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 4 119738426 119738426 G T SNP SEC24D ENST00000379735 human ensembl 70_37 -1 known missense c.390 p.N130K 1.000 NULL pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom - no_errors SEC24D HGNC SKOR1 390598 genome.wustl.edu 37 15 68120237 68120237 + Missense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 15 68120237 68120237 G A SNP SKOR1 ENST00000380035 human ensembl 70_37 +1 known missense c.2071 p.G691S 0.001 NULL pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like - no_errors SKOR1 HGNC SLC44A1 23446 genome.wustl.edu 37 9 108128639 108128639 + Missense_Mutation SNP G G C TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 9 108128639 108128639 G C SNP SLC44A1 ENST00000374720 human ensembl 70_37 +1 known missense c.1423 p.A475P 1.000 pfam_Choline_transptr-like pfam_Choline_transptr-like - no_errors SLC44A1 HGNC SLC9A6 10479 genome.wustl.edu 37 X 135106633 135106633 + Missense_Mutation SNP T T C TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b X 135106633 135106633 T C SNP SLC9A6 ENST00000370695 human ensembl 70_37 +1 known missense c.1607 p.L536S 1.000 prints_Na/H_exchanger_6,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A6 HGNC STK11IP 114790 genome.wustl.edu 37 2 220473076 220473076 + Missense_Mutation SNP G G T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 2 220473076 220473076 G T SNP STK11IP ENST00000456909 human ensembl 70_37 +1 novel missense c.1527 p.E509D 0.041 NULL NULL - no_errors STK11IP HGNC STOML3 161003 genome.wustl.edu 37 13 39544498 39544498 + Nonsense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 13 39544498 39544498 G A SNP STOML3 ENST00000379631 human ensembl 70_37 -1 known nonsense c.340 p.Q114* 0.001 pfam_Band_7,smart_Band_7,prints_Stomatin pfam_Band_7,smart_Band_7,prints_Stomatin - no_errors STOML3 HGNC SV2A 9900 genome.wustl.edu 37 1 149876728 149876728 + Silent SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 1 149876728 149876728 C T SNP SV2A ENST00000369146 human ensembl 70_37 -1 known silent c.2067 p.L689 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata - no_errors SV2A HGNC TBX15 6913 genome.wustl.edu 37 1 119474450 119474450 + Missense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 1 119474450 119474450 C T SNP TBX15 ENST00000369429 human ensembl 70_37 -1 known missense c.211 p.E71K 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box - no_errors TBX15 HGNC TGS1 96764 genome.wustl.edu 37 8 56698850 56698850 + Missense_Mutation SNP G G T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 8 56698850 56698850 G T SNP TGS1 ENST00000260129 human ensembl 70_37 +1 known missense c.393 p.K131N 0.998 NULL pfam_RNA_cap_Gua-N2-MeTrfase,pfam_RNA_methylase_dom,pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors TGS1 HGNC THBS4 7060 genome.wustl.edu 37 5 79335943 79335943 + Silent SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 5 79335943 79335943 C T SNP THBS4 ENST00000350881 human ensembl 70_37 +1 known silent c.132 p.G44 0.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors THBS4 HGNC TNFRSF10C 8794 genome.wustl.edu 37 8 22974403 22974403 + Missense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 8 22974403 22974403 G A SNP TNFRSF10C ENST00000356864 human ensembl 70_37 +1 known missense c.639 p.M213I 0.022 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_10 - no_errors TNFRSF10C HGNC TNRC6A 27327 genome.wustl.edu 37 16 24826503 24826503 + Missense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 16 24826503 24826503 C T SNP TNRC6A ENST00000395799 human ensembl 70_37 +1 known missense c.4708 p.P1570S 1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6A HGNC TRMT1 55621 genome.wustl.edu 37 19 13227106 13227106 + Silent SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 19 13227106 13227106 C T SNP TRMT1 ENST00000357720 human ensembl 70_37 -1 known silent c.108 p.A36 0.000 NULL pfam_TRM1,pfam_Znf_CCCH,pfam_tRNA_Trfase_Trm5/Tyw2,smart_Znf_CCCH,tigrfam_TRM1 - no_errors TRMT1 HGNC TTLL10-AS1 100506376 genome.wustl.edu 37 1 1111303 1111303 + RNA SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 1 1111303 1111303 C T SNP TTLL10-AS1 ENST00000379317 human ensembl 70_37 -1 known rna NULL NULL 0.109 - - - no_errors TTLL10-AS1 HGNC TUBG1 7283 genome.wustl.edu 37 17 40765904 40765904 + Missense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 17 40765904 40765904 G A SNP TUBG1 ENST00000251413 human ensembl 70_37 +1 known missense c.731 p.R244H 1.000 superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase 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 USP21 27005 genome.wustl.edu 37 1 161134399 161134399 + Missense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 1 161134399 161134399 C T SNP USP21 ENST00000289865 human ensembl 70_37 +1 known missense c.1381 p.L461F 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP21 HGNC WDFY4 57705 genome.wustl.edu 37 10 49997929 49997929 + Missense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 10 49997929 49997929 C T SNP WDFY4 ENST00000325239 human ensembl 70_37 +1 known missense c.3965 p.S1322L 0.988 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY4 HGNC XIST 7503 genome.wustl.edu 37 X 73044562 73044562 + RNA SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b X 73044562 73044562 G A SNP XIST ENST00000429829 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors XIST HGNC XPNPEP2 7512 genome.wustl.edu 37 X 128902410 128902410 + Missense_Mutation SNP G G C TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b X 128902410 128902410 G C SNP XPNPEP2 ENST00000371106 human ensembl 70_37 +1 known missense c.1974 p.W658C 0.002 NULL pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain - no_errors XPNPEP2 HGNC ZC3H12A 80149 genome.wustl.edu 37 1 37946015 37946015 + Missense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 1 37946015 37946015 G A SNP ZC3H12A ENST00000373082 human ensembl 70_37 +1 known missense c.568 p.D190N 0.999 pfam_RNase_Zc3h12 pfam_RNase_Zc3h12 - no_errors ZC3H12A HGNC ZNF462 58499 genome.wustl.edu 37 9 109689443 109689443 + Missense_Mutation SNP G G A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 9 109689443 109689443 G A SNP ZNF462 ENST00000457913 human ensembl 70_37 +1 known missense c.3250 p.E1084K 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ZNF597 146434 genome.wustl.edu 37 16 3490819 3490819 + Missense_Mutation SNP C C A TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 16 3490819 3490819 C A SNP ZNF597 ENST00000301744 human ensembl 70_37 -1 known missense c.148 p.A50S 0.000 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_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 - no_errors ZNF597 HGNC ZNF677 342926 genome.wustl.edu 37 19 53741496 53741496 + Missense_Mutation SNP C C G TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 24177940-975d-4c45-9c43-7862c8e036bb c386a7c5-17a6-449d-9a30-7066e3c23e6b 19 53741496 53741496 C G SNP ZNF677 ENST00000333952 human ensembl 70_37 -1 known missense c.484 p.D162H 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 ZNF677 HGNC