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 ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF AARS 0 genome.wustl.edu 37 16 70302204 70302204 + Silent SNP A A T TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 16 70302204 70302204 A T SNP AARS ENST00000261772 human ensembl 74_37 -1 known silent c.1041 p.A347 0.996 pfam_Ala-tRNA-synth_IIc_N,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,pfam_Pesterase_DHHA1,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-lgiase_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc - no_errors AARS HGNC ENSG00000090861 tier1 - - 86 0 0.00 74 23 23.71 ADCY8 0 genome.wustl.edu 37 8 131861965 131861965 + Missense_Mutation SNP T T A TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 8 131861965 131861965 T A SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known missense c.2295 p.K765N 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 tier1 - - 43 0 0.00 38 13 25.49 ALS2 0 genome.wustl.edu 37 2 202598034 202598034 + Missense_Mutation SNP T T C TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 2 202598034 202598034 T C SNP ALS2 ENST00000264276 human ensembl 74_37 -1 known missense c.2545 p.K849E 0.986 pfam_DH-domain,superfamily_DH-domain,pfscan_DH-domain pfam_Reg_chr_condens,pfam_MORN,pfam_VPS9,pfam_DH-domain,superfamily_RCC1/BLIP-II,superfamily_DH-domain,smart_MORN,pfscan_VPS9,pfscan_Reg_chr_condens,pfscan_DH-domain,prints_Reg_chr_condens - no_errors ALS2 HGNC ENSG00000003393 tier1 - - 62 0 0.00 47 12 20.34 ARHGAP29 0 genome.wustl.edu 37 1 94643144 94643144 + RNA DEL T T - TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 1 94643144 94643144 T - DEL ARHGAP29 ENST00000482481 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ARHGAP29 HGNC ENSG00000137962 tier1 37 0 0.00 30 3 9.09 ARID2 0 genome.wustl.edu 37 12 46245464 46245465 + Frame_Shift_Del DEL TG TG - TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 12 46245464 46245465 TG - DEL ARID2 ENST00000334344 human ensembl 74_37 +1 known frame_shift_del c.3558_3559 p.V1187fs 0.968:1.000 NULL pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID2 HGNC ENSG00000189079 tier1 87 0 0.00 57 16 21.92 ARSJ 0 genome.wustl.edu 37 4 114899858 114899858 + Missense_Mutation SNP A A G TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 4 114899858 114899858 A G SNP ARSJ ENST00000315366 human ensembl 74_37 -1 known missense c.133 p.S45P 1.000 NULL pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSJ HGNC ENSG00000180801 tier1 - - 213 0 0.00 159 42 20.90 ASMTL 0 genome.wustl.edu 37 X 1551238 1551238 + Missense_Mutation SNP A A T TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb X 1551238 1551238 A T SNP ASMTL ENST00000381317 human ensembl 74_37 -1 known missense c.433 p.Y145N 1.000 pfam_Maf,tigrfam_Maf pfam_Maf,pfam_O_MeTrfase_2,tigrfam_Maf - no_errors ASMTL HGNC ENSG00000169093 tier1 - - 34 0 0.00 29 4 12.12 BSN 0 genome.wustl.edu 37 3 49688128 49688128 + Silent SNP C C A TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 3 49688128 49688128 C A SNP BSN ENST00000296452 human ensembl 74_37 +1 known silent c.1602 p.P534 1.000 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 tier1 - - 244 0 0.00 259 15 5.47 C12orf40 0 genome.wustl.edu 37 12 40076540 40076540 + Frame_Shift_Del DEL A A - TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 12 40076540 40076540 A - DEL C12orf40 ENST00000324616 human ensembl 74_37 +1 known frame_shift_del c.814 p.N273fs 0.030 NULL NULL - no_errors C12orf40 HGNC ENSG00000180116 tier1 156 0 0.00 159 33 17.19 C16orf78 0 genome.wustl.edu 37 16 49430513 49430513 + Missense_Mutation SNP A A G TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 16 49430513 49430513 A G SNP C16orf78 ENST00000299191 human ensembl 74_37 +1 known missense c.574 p.S192G 0.953 NULL NULL - no_errors C16orf78 HGNC ENSG00000166152 tier1 - - 49 0 0.00 64 5 7.25 CACNA1C 0 genome.wustl.edu 37 12 2602428 2602428 + Missense_Mutation SNP C C T TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 12 2602428 2602428 C T SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known missense c.989 p.T330M 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 ENSG00000151067 tier1 - - 180 0 0.00 178 82 31.54 CACNA1I 0 genome.wustl.edu 37 22 40066157 40066157 + Missense_Mutation SNP T T A TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 22 40066157 40066157 T A SNP CACNA1I ENST00000336649 human ensembl 74_37 +1 known missense c.4327 p.C1443S 1.000 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1I HGNC ENSG00000100346 tier1 - - 186 0 0.00 180 43 19.28 CEP95 0 genome.wustl.edu 37 17 62504717 62504717 + Silent SNP A A C TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 17 62504717 62504717 A C SNP CEP95 ENST00000556440 human ensembl 74_37 +1 known silent c.27 p.V9 0.998 NULL superfamily_CH-domain - no_errors CEP95 HGNC ENSG00000258890 tier1 - - 46 0 0.00 49 12 19.67 CHCHD3 0 genome.wustl.edu 37 7 132481337 132481337 + Nonsense_Mutation SNP G G A TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 7 132481337 132481337 G A SNP CHCHD3 ENST00000262570 human ensembl 74_37 -1 known nonsense c.526 p.R176* 1.000 NULL pfam_DUF737 - no_errors CHCHD3 HGNC ENSG00000106554 tier1 - - 52 0 0.00 62 17 21.25 CMYA5 0 genome.wustl.edu 37 5 79032637 79032637 + Missense_Mutation SNP A A C TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 5 79032637 79032637 A C SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known missense c.8049 p.K2683N 0.082 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 tier1 - - 41 0 0.00 35 4 10.26 COL25A1 0 genome.wustl.edu 37 4 109805365 109805365 + Missense_Mutation SNP A A G TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 4 109805365 109805365 A G SNP COL25A1 ENST00000399132 human ensembl 74_37 -1 known missense c.989 p.L330P 1.000 pfam_Collagen pfam_Collagen - no_errors COL25A1 HGNC ENSG00000188517 tier1 - - 67 0 0.00 49 4 7.55 DAB2IP 0 genome.wustl.edu 37 9 124544665 124544665 + Missense_Mutation SNP C C T TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 9 124544665 124544665 C T SNP DAB2IP ENST00000408936 human ensembl 74_37 +1 known missense c.3458 p.T1153I 0.991 pfam_DUF3498 pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors DAB2IP HGNC ENSG00000136848 tier1 - - 178 0 0.00 113 35 23.65 DYSF 0 genome.wustl.edu 37 2 71827926 71827926 + Missense_Mutation SNP C C T TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 2 71827926 71827926 C T SNP DYSF ENST00000413539 human ensembl 74_37 +1 known missense c.3890 p.P1297L 0.039 superfamily_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors DYSF HGNC ENSG00000135636 tier1 - - 197 0 0.00 170 50 22.62 ENSG00000244327 0 genome.wustl.edu 37 3 142184164 142184164 + RNA DEL A A - TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 3 142184164 142184164 A - DEL ENSG00000244327 ENST00000460977 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-383G6.3 Clone_based_vega_gene ENSG00000244327 tier1 16 0 0.00 13 3 18.75 GABRA1 0 genome.wustl.edu 37 5 161324319 161324319 + Missense_Mutation SNP G G A TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 5 161324319 161324319 G A SNP GABRA1 ENST00000023897 human ensembl 74_37 +1 known missense c.1262 p.R421Q 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA1 HGNC ENSG00000022355 tier1 - - 191 0 0.00 145 32 18.08 GHR 0 genome.wustl.edu 37 5 42695143 42695143 + Missense_Mutation SNP A A G TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 5 42695143 42695143 A G SNP GHR ENST00000230882 human ensembl 74_37 +1 known missense c.391 p.S131G 0.004 pfam_Growth/epo_recpt_lig-bind,superfamily_Fibronectin_type3 pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors GHR HGNC ENSG00000112964 tier1 - - 55 0 0.00 53 9 14.52 GNL2 0 genome.wustl.edu 37 1 38059481 38059481 + RNA SNP G G C TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 1 38059481 38059481 G C SNP GNL2 ENST00000463351 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GNL2 HGNC ENSG00000134697 tier1 - - 61 0 0.00 44 31 41.33 GPR133 0 genome.wustl.edu 37 12 131471847 131471847 + Missense_Mutation SNP G G A TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 12 131471847 131471847 G A SNP GPR133 ENST00000261654 human ensembl 74_37 +1 known missense c.698 p.R233Q 1.000 superfamily_ConA-like_lec_gl_sf pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR133 HGNC ENSG00000111452 tier1 - - 96 0 0.00 114 11 8.80 GRIK3 0 genome.wustl.edu 37 1 37271724 37271724 + Silent SNP G G A TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 1 37271724 37271724 G A SNP GRIK3 ENST00000373091 human ensembl 74_37 -1 known silent c.2295 p.Y765 0.395 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK3 HGNC ENSG00000163873 tier1 - - 78 0 0.00 74 12 13.95 GRK7 0 genome.wustl.edu 37 3 141499618 141499618 + Missense_Mutation SNP G G A TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 3 141499618 141499618 G A SNP GRK7 ENST00000264952 human ensembl 74_37 +1 known missense c.1015 p.V339M 0.998 pfam_Prot_kinase_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_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors GRK7 HGNC ENSG00000114124 tier1 - - 42 0 0.00 55 9 14.06 HERC2P9 0 genome.wustl.edu 37 15 28901043 28901043 + RNA SNP G G C TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 15 28901043 28901043 G C SNP HERC2P9 ENST00000528584 human ensembl 74_37 +1 known rna NULL NULL 0.936 - - - no_errors HERC2P9 HGNC ENSG00000206149 tier1 - - 80 0 0.00 81 9 10.00 HLA-G 0 genome.wustl.edu 37 6 29798378 29798378 + Splice_Site SNP G G A TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 6 29798378 29798378 G A SNP HLA-G ENST00000478519 human ensembl 74_37 +1 known splice_site c.741+1 e5+1 0.149 - - - no_errors HLA-G HGNC ENSG00000204632 tier1 - - 25 0 0.00 18 5 21.74 HYDIN 0 genome.wustl.edu 37 16 70902553 70902553 + Missense_Mutation SNP C C T TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 16 70902553 70902553 C T SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative missense c.11230 p.D3744N 0.997 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 tier1 - - 49 0 0.00 57 9 13.64 HYDIN 0 genome.wustl.edu 37 16 70977789 70977789 + Missense_Mutation SNP C C T TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 16 70977789 70977789 C T SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative missense c.6595 p.G2199R 0.985 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 tier1 - - 38 0 0.00 36 9 20.00 JMJD1C 0 genome.wustl.edu 37 10 64960412 64960412 + Silent SNP T T C TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 10 64960412 64960412 T C SNP JMJD1C ENST00000399262 human ensembl 74_37 -1 known silent c.5100 p.K1700 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD1C HGNC ENSG00000171988 tier1 - - 59 0 0.00 32 17 34.69 KRT76 0 genome.wustl.edu 37 12 53169375 53169375 + Silent SNP C C T TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 12 53169375 53169375 C T SNP KRT76 ENST00000332411 human ensembl 74_37 -1 known silent c.612 p.L204 1.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT76 HGNC ENSG00000185069 tier1 - - 124 0 0.00 122 32 20.78 LINC00273 0 genome.wustl.edu 37 16 33961797 33961797 + RNA SNP G G T TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 16 33961797 33961797 G T SNP LINC00273 ENST00000539813 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors LINC00273 HGNC ENSG00000256642 tier1 - - 15 0 0.00 14 5 26.32 LYPLAL1 0 genome.wustl.edu 37 1 219347304 219347304 + Silent SNP G G T TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 1 219347304 219347304 G T SNP LYPLAL1 ENST00000366928 human ensembl 74_37 +1 known silent c.72 p.L24 0.998 pfam_PLipase/COase/thioEstase pfam_PLipase/COase/thioEstase,pfam_Dienelactn_hydro,pfam_Esterase_put - no_errors LYPLAL1 HGNC ENSG00000143353 tier1 - - 117 0 0.00 80 19 19.19 MAMDC4 0 genome.wustl.edu 37 9 139752164 139752165 + Frame_Shift_Ins INS - - CC TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 9 139752164 139752165 - CC INS MAMDC4 ENST00000445819 human ensembl 74_37 +1 known frame_shift_ins c.2617_2618 p.S874fs 0.883:0.885 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_LDrepeatLR_classA_rpt - no_errors MAMDC4 HGNC ENSG00000177943 tier1 46 0 0.00 51 6 10.53 MED15 0 genome.wustl.edu 37 22 20937477 20937477 + Missense_Mutation SNP C C G TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 22 20937477 20937477 C G SNP MED15 ENST00000263205 human ensembl 74_37 +1 known missense c.1615 p.L539V 1.000 pfam_Mediator_Med15_met pfam_Mediator_Med15_met - no_errors MED15 HGNC ENSG00000099917 tier1 - - 57 0 0.00 52 8 13.33 MEOX2 0 genome.wustl.edu 37 7 15652021 15652021 + Silent SNP C C T TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 7 15652021 15652021 C T SNP MEOX2 ENST00000262041 human ensembl 74_37 -1 known silent c.906 p.A302 0.311 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors MEOX2 HGNC ENSG00000106511 tier1 - - 92 0 0.00 82 12 12.77 MIP 0 genome.wustl.edu 37 12 56847486 56847486 + Silent SNP C C T TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 12 56847486 56847486 C T SNP MIP ENST00000257979 human ensembl 74_37 -1 known silent c.414 p.T138 0.072 pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP - no_errors MIP HGNC ENSG00000135517 tier1 - - 40 0 0.00 58 11 15.94 MTUS1 0 genome.wustl.edu 37 8 17611599 17611599 + Missense_Mutation SNP T T C TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 8 17611599 17611599 T C SNP MTUS1 ENST00000262102 human ensembl 74_37 -1 known missense c.1718 p.K573R 1.000 NULL superfamily_Ferritin-like_SF - no_errors MTUS1 HGNC ENSG00000129422 tier1 - - 257 0 0.00 264 65 19.76 MUC5B 0 genome.wustl.edu 37 11 1248081 1248081 + Missense_Mutation SNP G G A TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 11 1248081 1248081 G A SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.436 p.G146S 0.005 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 tier1 - - 46 0 0.00 29 4 12.12 MUC5B 0 genome.wustl.edu 37 11 1258389 1258389 + Missense_Mutation SNP T T G TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 11 1258389 1258389 T G SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.3301 p.S1101A 0.567 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 33 0 0.00 30 3 9.09 MYBPC1 0 genome.wustl.edu 37 12 102069089 102069089 + Silent SNP A A G TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 12 102069089 102069089 A G SNP MYBPC1 ENST00000361466 human ensembl 74_37 +1 known silent c.2829 p.Q943 0.007 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_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPC1 HGNC ENSG00000196091 tier1 - - 54 0 0.00 45 16 26.23 OR5D13 0 genome.wustl.edu 37 11 55541117 55541117 + Missense_Mutation SNP G G T TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 11 55541117 55541117 G T SNP OR5D13 ENST00000361760 human ensembl 74_37 +1 known missense c.204 p.L68F 0.868 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 OR5D13 HGNC ENSG00000198877 tier1 - - 127 0 0.00 132 11 7.69 OR9G4 0 genome.wustl.edu 37 11 56510828 56510828 + Missense_Mutation SNP C C T TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 11 56510828 56510828 C T SNP OR9G4 ENST00000302957 human ensembl 74_37 -1 known missense c.460 p.A154T 0.000 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 OR9G4 HGNC ENSG00000172457 tier1 rs139616824 - 127 0 0.00 119 28 19.05 PARD3 0 genome.wustl.edu 37 10 34630573 34630573 + Missense_Mutation SNP A A T TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 10 34630573 34630573 A T SNP PARD3 ENST00000374789 human ensembl 74_37 -1 known missense c.2399 p.I800N 0.370 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3 HGNC ENSG00000148498 tier1 - - 87 0 0.00 87 15 14.71 PLEC 0 genome.wustl.edu 37 8 145001649 145001649 + Missense_Mutation SNP G G A TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 8 145001649 145001649 G A SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.4096 p.R1366W 1.000 smart_Spectrin/alpha-actinin 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 ENSG00000178209 tier1 - - 36 0 0.00 38 13 25.49 PSIP1 0 genome.wustl.edu 37 9 15468821 15468824 + Frame_Shift_Del DEL ACTA ACTA - TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 ACTA ACTA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 9 15468821 15468824 ACTA - DEL PSIP1 ENST00000380733 human ensembl 74_37 -1 known frame_shift_del c.1227_1224 p.S409fs 1.000:1.000:1.000:0.997 pfam_LEDGF pfam_LEDGF,pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom,prints_Treacle-like_TCS - no_errors PSIP1 HGNC ENSG00000164985 tier1 62 0 0.00 50 11 18.03 PTHLH 0 genome.wustl.edu 37 12 28114898 28114898 + Frame_Shift_Del DEL T T - TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 12 28114898 28114898 T - DEL PTHLH ENST00000354417 human ensembl 74_37 -1 known frame_shift_del c.557 p.K186fs 0.135 NULL pfam_PTH/PTH-rel,smart_PTH/PTH-rel - no_errors PTHLH HGNC ENSG00000087494 tier1 10 0 0.00 6 6 50.00 RAG2 0 genome.wustl.edu 37 11 36614616 36614616 + Missense_Mutation SNP G G A TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 11 36614616 36614616 G A SNP RAG2 ENST00000311485 human ensembl 74_37 -1 known missense c.1103 p.S368L 1.000 pfam_RAG2 pfam_RAG2,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_Znf_FYVE_PHD - no_errors RAG2 HGNC ENSG00000175097 tier1 - - 84 0 0.00 90 5 5.26 RBPJ 0 genome.wustl.edu 37 4 26426018 26426018 + Missense_Mutation SNP C C G TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 4 26426018 26426018 C G SNP RBPJ ENST00000342295 human ensembl 74_37 +1 known missense c.590 p.T197R 1.000 pfam_Beta-trefoil_DNA-bd_dom,superfamily_Beta-trefoil_DNA-bd_dom pfam_Beta-trefoil_DNA-bd_dom,pfam_LAG1_DNA-bd,pfam_IPT,superfamily_Beta-trefoil_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set - no_errors RBPJ HGNC ENSG00000168214 137 0 0.00 122 7 5.43 RTN1 0 genome.wustl.edu 37 14 60194283 60194283 + Silent SNP G G A TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 14 60194283 60194283 G A SNP RTN1 ENST00000267484 human ensembl 74_37 -1 known silent c.1119 p.N373 0.063 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN1 HGNC ENSG00000139970 tier1 - - 29 0 0.00 16 4 20.00 RYR1 0 genome.wustl.edu 37 19 38949967 38949967 + Silent SNP G G A TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 19 38949967 38949967 G A SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known silent c.2349 p.S783 0.002 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,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 ENSG00000196218 tier1 - - 42 0 0.00 45 15 25.00 SGCE 0 genome.wustl.edu 37 7 94232678 94232678 + Missense_Mutation SNP T T G TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 7 94232678 94232678 T G SNP SGCE ENST00000445866 human ensembl 74_37 -1 known missense c.749 p.Q250P 1.000 pfam_Sarcoglycan_2 pfam_Sarcoglycan_2,superfamily_Cadherin-like,smart_Cadg - no_errors SGCE HGNC ENSG00000127990 tier1 - - 37 0 0.00 31 4 11.43 SHANK3 0 genome.wustl.edu 37 22 51160799 51160799 + Frame_Shift_Del DEL A A - TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 22 51160799 51160799 A - DEL SHANK3 ENST00000262795 human ensembl 74_37 +1 known frame_shift_del c.4586 p.E1529fs 1.000 NULL pfam_SAM_type1,pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK3 HGNC ENSG00000251322 tier1 72 0 0.00 62 10 13.89 SMAD4 0 genome.wustl.edu 37 18 48593466 48593466 + Missense_Mutation SNP C C T TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 18 48593466 48593466 C T SNP SMAD4 ENST00000342988 human ensembl 74_37 +1 known missense c.1217 p.A406V 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,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 SMAD4 HGNC ENSG00000141646 tier1 - - 105 0 0.00 87 21 19.44 SMAD4 0 genome.wustl.edu 37 18 48591919 48591919 + Missense_Mutation SNP G G T TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 18 48591919 48591919 G T SNP SMAD4 ENST00000342988 human ensembl 74_37 +1 known missense c.1082 p.R361L 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,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 SMAD4 HGNC ENSG00000141646 96 0 0.00 57 4 6.56 SPAG17 0 genome.wustl.edu 37 1 118642367 118642367 + Missense_Mutation SNP G G A TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 1 118642367 118642367 G A SNP SPAG17 ENST00000336338 human ensembl 74_37 -1 known missense c.691 p.P231S 1.000 NULL NULL - no_errors SPAG17 HGNC ENSG00000155761 tier1 - - 74 0 0.00 64 12 15.79 SUMO1 0 genome.wustl.edu 37 2 203096348 203096349 + Frame_Shift_Ins INS - - A TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 2 203096348 203096349 - A INS SUMO1 ENST00000409627 human ensembl 74_37 -1 known frame_shift_ins c.120_119 p.L40fs 0.004:0.011 NULL NULL - no_errors SUMO1 HGNC ENSG00000116030 tier1 19 0 0.00 25 3 10.71 TAS2R43 0 genome.wustl.edu 37 12 11244398 11244398 + Missense_Mutation SNP A A G TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 12 11244398 11244398 A G SNP TAS2R43 ENST00000531678 human ensembl 74_37 -1 known missense c.431 p.L144P 0.001 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R43 HGNC ENSG00000255374 68 0 0.00 88 8 8.33 THAP3 0 genome.wustl.edu 37 1 6685232 6685234 + RNA DEL CCG CCG - TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 CCG CCG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 1 6685232 6685234 CCG - DEL THAP3 ENST00000484676 human ensembl 74_37 +1 known rna NULL NULL 0.060:0.059:0.058 - - - no_errors THAP3 HGNC ENSG00000041988 tier1 9 0 0.00 3 2 40.00 TP53 0 genome.wustl.edu 37 17 7578236 7578236 + Missense_Mutation SNP A A G TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 17 7578236 7578236 A G SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.613 p.Y205H 0.994 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 ENSG00000141510 tier1 - - 76 0 0.00 42 12 22.22 TPO 0 genome.wustl.edu 37 2 1544474 1544474 + Silent SNP C C T TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 2 1544474 1544474 C T SNP TPO ENST00000329066 human ensembl 74_37 +1 known silent c.2727 p.A909 0.000 NULL pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd_dom,superfamily_Haem_peroxidase,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors TPO HGNC ENSG00000115705 tier1 - - 93 0 0.00 78 8 9.20 TSHZ3 0 genome.wustl.edu 37 19 31767990 31767990 + Silent SNP G G T TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 19 31767990 31767990 G T SNP TSHZ3 ENST00000240587 human ensembl 74_37 -1 known silent c.2709 p.L903 1.000 superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 tier1 - - 54 0 0.00 61 9 12.86 VCL 0 genome.wustl.edu 37 10 75854112 75854112 + Missense_Mutation SNP G G A TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 10 75854112 75854112 G A SNP VCL ENST00000211998 human ensembl 74_37 +1 known missense c.1436 p.R479Q 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin - no_errors VCL HGNC ENSG00000035403 tier1 - - 59 0 0.00 37 10 21.28 VWC2 0 genome.wustl.edu 37 7 49815072 49815072 + Missense_Mutation SNP G G A TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 7 49815072 49815072 G A SNP VWC2 ENST00000340652 human ensembl 74_37 +1 known missense c.41 p.S14N 1.000 NULL pfam_VWF_C,smart_VWF_C,pfscan_VWF_C - no_errors VWC2 HGNC ENSG00000188730 tier1 - - 18 0 0.00 13 4 23.53 ZNF321P 0 genome.wustl.edu 37 19 53432428 53432428 + Missense_Mutation SNP G G C TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 19 53432428 53432428 G C SNP ZNF321P ENST00000391777 human ensembl 74_37 -1 known missense c.430 p.Q144E 0.003 NULL pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF321P HGNC ENSG00000221874 tier1 - - 249 0 0.00 245 32 11.51 ZNF639 0 genome.wustl.edu 37 3 179052060 179052063 + Frame_Shift_Del DEL TGAA TGAA - TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 TGAA TGAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 3 179052060 179052063 TGAA - DEL ZNF639 ENST00000326361 human ensembl 74_37 +1 known frame_shift_del c.1308_1311 p.E437fs 1.000:1.000:1.000:1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF639 HGNC ENSG00000121864 tier1 60 0 0.00 43 9 17.31 ZNF729 0 genome.wustl.edu 37 19 22497405 22497405 + Missense_Mutation SNP G G T TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 19 22497405 22497405 G T SNP ZNF729 ENST00000601693 human ensembl 74_37 +1 novel missense c.1186 p.V396L 0.018 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 ZNF729 HGNC ENSG00000196350 tier1 - - 57 0 0.00 43 9 17.31 ZSCAN4 0 genome.wustl.edu 37 19 58187555 58187555 + Silent SNP C C T TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 19 58187555 58187555 C T SNP ZSCAN4 ENST00000318203 human ensembl 74_37 +1 known silent c.42 p.S14 0.000 NULL 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 ENSG00000180532 tier1 - - 63 0 0.00 47 17 26.56 SPAG17 0 genome.wustl.edu 37 1 118642367 118642367 + Missense_Mutation SNP G G A TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 1 118642367 118642367 G A SNP SPAG17 ENST00000336338 human ensembl 74_37 -1 known missense c.691 p.P231S 1.000 NULL NULL - no_errors SPAG17 HGNC ENSG00000155761 69 0 0 57 10 14.9254 LYPLAL1 0 genome.wustl.edu 37 1 219347304 219347304 + Silent SNP G G T TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 1 219347304 219347304 G T SNP LYPLAL1 ENST00000366928 human ensembl 74_37 +1 known silent c.72 p.L24 0.998 pfam_PLipase/COase/thioEstase pfam_PLipase/COase/thioEstase,pfam_Dienelactn_hydro,pfam_Esterase_put - no_errors LYPLAL1 HGNC ENSG00000143353 96 0 0 70 17 19.5402 GRIK3 0 genome.wustl.edu 37 1 37271724 37271724 + Silent SNP G G A TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 1 37271724 37271724 G A SNP GRIK3 ENST00000373091 human ensembl 74_37 -1 known silent c.2295 p.Y765 0.395 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK3 HGNC ENSG00000163873 71 0 0 66 11 14.2857 PARD3 0 genome.wustl.edu 37 10 34630573 34630573 + Missense_Mutation SNP A A T TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 10 34630573 34630573 A T SNP PARD3 ENST00000374789 human ensembl 74_37 -1 known missense c.2399 p.I800N 0.370 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3 HGNC ENSG00000148498 79 0 0 80 14 14.8936 JMJD1C 0 genome.wustl.edu 37 10 64960412 64960412 + Silent SNP T T C TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 10 64960412 64960412 T C SNP JMJD1C ENST00000399262 human ensembl 74_37 -1 known silent c.5100 p.K1700 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD1C HGNC ENSG00000171988 47 0 0 29 14 32.5581 VCL 0 genome.wustl.edu 37 10 75854112 75854112 + Missense_Mutation SNP G G A TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 10 75854112 75854112 G A SNP VCL ENST00000211998 human ensembl 74_37 +1 known missense c.1436 p.R479Q 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin - no_errors VCL HGNC ENSG00000035403 58 0 0 37 10 21.2766 RAG2 0 genome.wustl.edu 37 11 36614616 36614616 + Missense_Mutation SNP G G A TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 11 36614616 36614616 G A SNP RAG2 ENST00000311485 human ensembl 74_37 -1 known missense c.1103 p.S368L 1.000 pfam_RAG2 pfam_RAG2,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_Znf_FYVE_PHD - no_errors RAG2 HGNC ENSG00000175097 80 0 0 85 5 5.55556 OR5D13 0 genome.wustl.edu 37 11 55541117 55541117 + Missense_Mutation SNP G G T TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 11 55541117 55541117 G T SNP OR5D13 ENST00000361760 human ensembl 74_37 +1 known missense c.204 p.L68F 0.868 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 OR5D13 HGNC ENSG00000198877 118 0 0 129 10 7.19424 OR9G4 0 genome.wustl.edu 37 11 56510828 56510828 + Missense_Mutation SNP C C T TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 11 56510828 56510828 C T SNP OR9G4 ENST00000302957 human ensembl 74_37 -1 known missense c.460 p.A154T 0.000 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 OR9G4 HGNC ENSG00000172457 116 0 0 112 27 19.4245 MS4A14 0 genome.wustl.edu 37 11 60165404 60165404 + Missense_Mutation SNP G G T TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 11 60165404 60165404 G T SNP MS4A14 ENST00000300187 human ensembl 74_37 +1 known missense c.218 p.R73I 0.000 pfam_CD20-like pfam_CD20-like - no_errors MS4A14 HGNC ENSG00000166928 50 0 0 53 4 7.01754 MYBPC1 0 genome.wustl.edu 37 12 102069089 102069089 + Silent SNP A A G TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 12 102069089 102069089 A G SNP MYBPC1 ENST00000361466 human ensembl 74_37 +1 known silent c.2829 p.Q943 0.007 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_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPC1 HGNC ENSG00000196091 51 0 0 39 15 27.7778 GPR133 0 genome.wustl.edu 37 12 131471847 131471847 + Missense_Mutation SNP G G A TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 12 131471847 131471847 G A SNP GPR133 ENST00000261654 human ensembl 74_37 +1 known missense c.698 p.R233Q 1.000 superfamily_ConA-like_lec_gl_sf pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR133 HGNC ENSG00000111452 94 0 0 107 11 9.32203 CACNA1C 0 genome.wustl.edu 37 12 2602428 2602428 + Missense_Mutation SNP C C T TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 12 2602428 2602428 C T SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known missense c.989 p.T330M 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 ENSG00000151067 163 0 0 162 78 32.5 KRT76 0 genome.wustl.edu 37 12 53169375 53169375 + Silent SNP C C T TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 12 53169375 53169375 C T SNP KRT76 ENST00000332411 human ensembl 74_37 -1 known silent c.612 p.L204 1.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT76 HGNC ENSG00000185069 117 0 0 116 31 21.0884 MIP 0 genome.wustl.edu 37 12 56847486 56847486 + Silent SNP C C T TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 12 56847486 56847486 C T SNP MIP ENST00000257979 human ensembl 74_37 -1 known silent c.414 p.T138 0.072 pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP - no_errors MIP HGNC ENSG00000135517 38 0 0 54 10 15.625 LRFN5 0 genome.wustl.edu 37 14 42360614 42360614 + Missense_Mutation SNP G G A TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 14 42360614 42360614 G A SNP LRFN5 ENST00000298119 human ensembl 74_37 +1 known missense c.1547 p.R516H 0.998 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN5 HGNC ENSG00000165379 240 1 0.414938 132 31 19.0184 RTN1 0 genome.wustl.edu 37 14 60194283 60194283 + Silent SNP G G A TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 14 60194283 60194283 G A SNP RTN1 ENST00000267484 human ensembl 74_37 -1 known silent c.1119 p.N373 0.063 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN1 HGNC ENSG00000139970 25 0 0 16 3 15.7895 HERC2P9 0 genome.wustl.edu 37 15 28901043 28901043 + RNA SNP G G C TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 15 28901043 28901043 G C SNP HERC2P9 ENST00000528584 human ensembl 74_37 +1 known rna NULL NULL 0.936 - - - no_errors HERC2P9 HGNC ENSG00000206149 79 0 0 76 9 10.5882 C16orf78 0 genome.wustl.edu 37 16 49430513 49430513 + Missense_Mutation SNP A A G TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 16 49430513 49430513 A G SNP C16orf78 ENST00000299191 human ensembl 74_37 +1 known missense c.574 p.S192G 0.953 NULL NULL - no_errors C16orf78 HGNC ENSG00000166152 46 0 0 61 5 7.57576 AARS 0 genome.wustl.edu 37 16 70302204 70302204 + Silent SNP A A T TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 16 70302204 70302204 A T SNP AARS ENST00000261772 human ensembl 74_37 -1 known silent c.1041 p.A347 0.996 pfam_Ala-tRNA-synth_IIc_N,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,pfam_Pesterase_DHHA1,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-lgiase_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc - no_errors AARS HGNC ENSG00000090861 75 0 0 67 17 20.2381 HYDIN 0 genome.wustl.edu 37 16 70902553 70902553 + Missense_Mutation SNP C C T TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 16 70902553 70902553 C T SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative missense c.11230 p.D3744N 0.997 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 45 0 0 50 8 13.7931 HYDIN 0 genome.wustl.edu 37 16 70977789 70977789 + Missense_Mutation SNP C C T TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 16 70977789 70977789 C T SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative missense c.6595 p.G2199R 0.985 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 34 0 0 30 9 23.0769 CEP95 0 genome.wustl.edu 37 17 62504717 62504717 + Silent SNP A A C TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 17 62504717 62504717 A C SNP CEP95 ENST00000556440 human ensembl 74_37 +1 known silent c.27 p.V9 0.998 NULL superfamily_CH-domain - no_errors CEP95 HGNC ENSG00000258890 40 0 0 45 11 19.6429 TP53 0 genome.wustl.edu 37 17 7578236 7578236 + Missense_Mutation SNP A A G TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 17 7578236 7578236 A G SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.613 p.Y205H 0.994 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 ENSG00000141510 62 0 0 37 12 24.4898 SMAD4 0 genome.wustl.edu 37 18 48593466 48593466 + Missense_Mutation SNP C C T TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 18 48593466 48593466 C T SNP SMAD4 ENST00000342988 human ensembl 74_37 +1 known missense c.1217 p.A406V 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,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 SMAD4 HGNC ENSG00000141646 99 0 0 76 19 20 ZNF208 0 genome.wustl.edu 37 19 22154342 22154342 + Missense_Mutation SNP A A C TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 19 22154342 22154342 A C SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel missense c.3494 p.V1165G 0.060 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 ZNF208 HGNC ENSG00000160321 35 0 0 33 5 13.1579 TSHZ3 0 genome.wustl.edu 37 19 31767990 31767990 + Silent SNP G G T TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 19 31767990 31767990 G T SNP TSHZ3 ENST00000240587 human ensembl 74_37 -1 known silent c.2709 p.L903 1.000 superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 49 0 0 58 8 12.1212 RYR1 0 genome.wustl.edu 37 19 38949967 38949967 + Silent SNP G G A TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 19 38949967 38949967 G A SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known silent c.2349 p.S783 0.002 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,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 ENSG00000196218 38 0 0 39 13 25 CYP2F1 0 genome.wustl.edu 37 19 41633927 41633927 + Silent SNP A A G TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 19 41633927 41633927 A G SNP CYP2F1 ENST00000331105 human ensembl 74_37 +1 known silent c.1416 p.P472 0.898 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_CYP2_fam pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_CYP2_fam,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2F1 HGNC ENSG00000197446 59 0 0 62 4 6.06061 PTH2 0 genome.wustl.edu 37 19 49926533 49926533 + Missense_Mutation SNP G G C TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 19 49926533 49926533 G C SNP PTH2 ENST00000270631 human ensembl 74_37 -1 known missense c.64 p.L22V 0.132 NULL NULL - no_errors PTH2 HGNC ENSG00000142538 37 0 0 43 3 6.52174 ZNF321P 0 genome.wustl.edu 37 19 53432428 53432428 + Missense_Mutation SNP G G C TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 19 53432428 53432428 G C SNP ZNF321P ENST00000391777 human ensembl 74_37 -1 known missense c.430 p.Q144E 0.003 NULL pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF321P HGNC ENSG00000221874 225 0 0 218 30 12.0968 ZSCAN4 0 genome.wustl.edu 37 19 58187555 58187555 + Silent SNP C C T TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 19 58187555 58187555 C T SNP ZSCAN4 ENST00000318203 human ensembl 74_37 +1 known silent c.42 p.S14 0.000 NULL 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 ENSG00000180532 55 0 0 43 16 27.1186 TPO 0 genome.wustl.edu 37 2 1544474 1544474 + Silent SNP C C T TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 2 1544474 1544474 C T SNP TPO ENST00000329066 human ensembl 74_37 +1 known silent c.2727 p.A909 0.000 NULL pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd_dom,superfamily_Haem_peroxidase,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors TPO HGNC ENSG00000115705 82 0 0 72 7 8.86076 ALS2 0 genome.wustl.edu 37 2 202598034 202598034 + Missense_Mutation SNP T T C TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 2 202598034 202598034 T C SNP ALS2 ENST00000264276 human ensembl 74_37 -1 known missense c.2545 p.K849E 0.986 pfam_DH-domain,superfamily_DH-domain,pfscan_DH-domain pfam_Reg_chr_condens,pfam_MORN,pfam_VPS9,pfam_DH-domain,superfamily_RCC1/BLIP-II,superfamily_DH-domain,smart_MORN,pfscan_VPS9,pfscan_Reg_chr_condens,pfscan_DH-domain,prints_Reg_chr_condens - no_errors ALS2 HGNC ENSG00000003393 56 0 0 40 12 23.0769 EPAS1 0 genome.wustl.edu 37 2 46583401 46583401 + Missense_Mutation SNP T T G TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 2 46583401 46583401 T G SNP EPAS1 ENST00000263734 human ensembl 74_37 +1 known missense c.329 p.F110C 1.000 pfam_PAS_fold,superfamily_PAS,smart_PAS,prints_Nuc_translocat,pfscan_PAS,tigrfam_PAS pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS - no_errors EPAS1 HGNC ENSG00000116016 65 0 0 91 5 5.20833 DYSF 0 genome.wustl.edu 37 2 71827926 71827926 + Missense_Mutation SNP C C T TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 2 71827926 71827926 C T SNP DYSF ENST00000413539 human ensembl 74_37 +1 known missense c.3890 p.P1297L 0.039 superfamily_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors DYSF HGNC ENSG00000135636 181 0 0 152 43 22.0513 FRG1B 0 genome.wustl.edu 37 20 29633900 29633900 + Missense_Mutation SNP A A G TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 20 29633900 29633900 A G SNP FRG1B ENST00000278882 human ensembl 74_37 +1 known missense c.539 p.E180G 1.000 NULL pfam_FRG1,superfamily_Actin_cross-linking - no_errors FRG1B HGNC ENSG00000149531 82 0 0 80 5 5.88235 MED15 0 genome.wustl.edu 37 22 20937477 20937477 + Missense_Mutation SNP C C G TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 22 20937477 20937477 C G SNP MED15 ENST00000263205 human ensembl 74_37 +1 known missense c.1615 p.L539V 1.000 pfam_Mediator_Med15_met pfam_Mediator_Med15_met - no_errors MED15 HGNC ENSG00000099917 55 0 0 52 8 13.3333 CACNA1I 0 genome.wustl.edu 37 22 40066157 40066157 + Missense_Mutation SNP T T A TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 22 40066157 40066157 T A SNP CACNA1I ENST00000336649 human ensembl 74_37 +1 known missense c.4327 p.C1443S 1.000 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1I HGNC ENSG00000100346 175 0 0 176 41 18.894 GRK7 0 genome.wustl.edu 37 3 141499618 141499618 + Missense_Mutation SNP G G A TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 3 141499618 141499618 G A SNP GRK7 ENST00000264952 human ensembl 74_37 +1 known missense c.1015 p.V339M 0.998 pfam_Prot_kinase_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_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors GRK7 HGNC ENSG00000114124 35 0 0 47 9 16.0714 BSN 0 genome.wustl.edu 37 3 49688128 49688128 + Silent SNP C C A TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 3 49688128 49688128 C A SNP BSN ENST00000296452 human ensembl 74_37 +1 known silent c.1602 p.P534 1.000 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 230 0 0 243 14 5.44747 ARSJ 0 genome.wustl.edu 37 4 114899858 114899858 + Missense_Mutation SNP A A G TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 4 114899858 114899858 A G SNP ARSJ ENST00000315366 human ensembl 74_37 -1 known missense c.133 p.S45P 1.000 NULL pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSJ HGNC ENSG00000180801 198 0 0 149 39 20.7447 JAKMIP1 0 genome.wustl.edu 37 4 6083476 6083476 + Missense_Mutation SNP G G A TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 4 6083476 6083476 G A SNP JAKMIP1 ENST00000409021 human ensembl 74_37 -1 known missense c.961 p.R321C 1.000 NULL NULL - no_errors JAKMIP1 HGNC ENSG00000152969 65 0 0 58 18 23.6842 GABRA1 0 genome.wustl.edu 37 5 161324319 161324319 + Missense_Mutation SNP G G A TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 5 161324319 161324319 G A SNP GABRA1 ENST00000023897 human ensembl 74_37 +1 known missense c.1262 p.R421Q 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA1 HGNC ENSG00000022355 181 0 0 129 32 19.8758 GHR 0 genome.wustl.edu 37 5 42695143 42695143 + Missense_Mutation SNP A A G TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 5 42695143 42695143 A G SNP GHR ENST00000230882 human ensembl 74_37 +1 known missense c.391 p.S131G 0.004 pfam_Growth/epo_recpt_lig-bind,superfamily_Fibronectin_type3 pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors GHR HGNC ENSG00000112964 47 0 0 47 9 16.0714 POLK 0 genome.wustl.edu 37 5 74880598 74880598 + Missense_Mutation SNP G G A TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 5 74880598 74880598 G A SNP POLK ENST00000241436 human ensembl 74_37 +1 known missense c.1073 p.G358E 1.000 pfam_PolY_HhH_motif,pfscan_DNA_repair_prot_UmuC-like_N pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_PolY_HhH_motif,superfamily_DNA_pol_Y-fam_little_finger,smart_Znf_Rad18_put,pfscan_DNA_repair_prot_UmuC-like_N - no_errors POLK HGNC ENSG00000122008 31 0 0 28 3 9.67742 GPR98 0 genome.wustl.edu 37 5 89971103 89971103 + Silent SNP C C T TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 5 89971103 89971103 C T SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known silent c.5154 p.D1718 0.000 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 ENSG00000164199 41 0 0 28 3 9.67742 CUL7 0 genome.wustl.edu 37 6 43005572 43005572 + Missense_Mutation SNP T T A TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 6 43005572 43005572 T A SNP CUL7 ENST00000535468 human ensembl 74_37 -1 known missense c.5203 p.T1735S 0.996 NULL pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL7 HGNC ENSG00000044090 22 0 0 20 4 16.6667 PLXNA4 0 genome.wustl.edu 37 7 132174131 132174131 + Missense_Mutation SNP G G T TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 7 132174131 132174131 G T SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known missense c.1291 p.R431S 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA4 HGNC ENSG00000221866 68 0 0 75 4 5.06329 CHCHD3 0 genome.wustl.edu 37 7 132481337 132481337 + Nonsense_Mutation SNP G G A TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 7 132481337 132481337 G A SNP CHCHD3 ENST00000262570 human ensembl 74_37 -1 known nonsense c.526 p.R176* 1.000 NULL pfam_DUF737 - no_errors CHCHD3 HGNC ENSG00000106554 46 0 0 53 15 22.0588 MEOX2 0 genome.wustl.edu 37 7 15652021 15652021 + Silent SNP C C T TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 7 15652021 15652021 C T SNP MEOX2 ENST00000262041 human ensembl 74_37 -1 known silent c.906 p.A302 0.311 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors MEOX2 HGNC ENSG00000106511 83 0 0 73 12 14.1176 VWC2 0 genome.wustl.edu 37 7 49815072 49815072 + Missense_Mutation SNP G G A TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 7 49815072 49815072 G A SNP VWC2 ENST00000340652 human ensembl 74_37 +1 known missense c.41 p.S14N 1.000 NULL pfam_VWF_C,smart_VWF_C,pfscan_VWF_C - no_errors VWC2 HGNC ENSG00000188730 14 0 0 10 3 23.0769 SGCE 0 genome.wustl.edu 37 7 94232678 94232678 + Missense_Mutation SNP T T G TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 7 94232678 94232678 T G SNP SGCE ENST00000445866 human ensembl 74_37 -1 known missense c.749 p.Q250P 1.000 pfam_Sarcoglycan_2 pfam_Sarcoglycan_2,superfamily_Cadherin-like,smart_Cadg - no_errors SGCE HGNC ENSG00000127990 37 0 0 30 4 11.7647 ADCY8 0 genome.wustl.edu 37 8 131861965 131861965 + Missense_Mutation SNP T T A TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 8 131861965 131861965 T A SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known missense c.2295 p.K765N 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 41 0 0 37 13 26 PLEC 0 genome.wustl.edu 37 8 145001649 145001649 + Missense_Mutation SNP G G A TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 8 145001649 145001649 G A SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.4096 p.R1366W 1.000 smart_Spectrin/alpha-actinin 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 ENSG00000178209 35 0 0 36 12 25 MTUS1 0 genome.wustl.edu 37 8 17611599 17611599 + Missense_Mutation SNP T T C TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 8 17611599 17611599 T C SNP MTUS1 ENST00000262102 human ensembl 74_37 -1 known missense c.1718 p.K573R 1.000 NULL superfamily_Ferritin-like_SF - no_errors MTUS1 HGNC ENSG00000129422 235 0 0 239 61 20.3333 PSKH2 0 genome.wustl.edu 37 8 87076706 87076706 + Missense_Mutation SNP G G A TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 8 87076706 87076706 G A SNP PSKH2 ENST00000276616 human ensembl 74_37 -1 known missense c.340 p.R114W 0.912 pfam_Prot_kinase_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_dom pfam_Prot_kinase_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_dom - no_errors PSKH2 HGNC ENSG00000147613 110 1 0.900901 95 26 21.4876 DAB2IP 0 genome.wustl.edu 37 9 124544665 124544665 + Missense_Mutation SNP C C T TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 9 124544665 124544665 C T SNP DAB2IP ENST00000408936 human ensembl 74_37 +1 known missense c.3458 p.T1153I 0.991 pfam_DUF3498 pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors DAB2IP HGNC ENSG00000136848 164 0 0 105 34 24.4604 C12orf40 0 genome.wustl.edu 37 12 40076540 40076540 + Frame_Shift_Del DEL A A - TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 12 40076540 40076540 A - DEL C12orf40 ENST00000324616 human ensembl 74_37 +1 known frame_shift_del c.814 p.N273fs 0.030 NULL NULL - no_errors C12orf40 HGNC ENSG00000180116 156 0 0 160 32 16.6667 POLDIP2 0 genome.wustl.edu 37 17 26684390 26684391 + Frame_Shift_Ins INS - - C TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 17 26684390 26684391 - C INS POLDIP2 ENST00000540200 human ensembl 74_37 -1 known frame_shift_ins c.82_81 p.P27fs 0.174:0.160 NULL pfam_ApaG_domain,pfam_Hemimethylated_DNA-bd_dom,superfamily_ApaG_domain,superfamily_Hemimethylated_DNA-bd_dom,pfscan_ApaG_domain - no_errors POLDIP2 HGNC ENSG00000004142 12 0 0 10 5 33.3333 SHANK3 0 genome.wustl.edu 37 22 51160799 51160799 + Frame_Shift_Del DEL A A - TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 22 51160799 51160799 A - DEL SHANK3 ENST00000262795 human ensembl 74_37 +1 known frame_shift_del c.4586 p.E1529fs 1.000 NULL pfam_SAM_type1,pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK3 HGNC ENSG00000251322 72 0 0 62 10 13.8889 MAMDC4 0 genome.wustl.edu 37 9 139752164 139752165 + Frame_Shift_Ins INS - - CC TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 9 139752164 139752165 - CC INS MAMDC4 ENST00000445819 human ensembl 74_37 +1 known frame_shift_ins c.2617_2618 p.S874fs 0.883:0.885 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_LDrepeatLR_classA_rpt - no_errors MAMDC4 HGNC ENSG00000177943 43 0 0 54 5 8.47458 PSIP1 0 genome.wustl.edu 37 9 15468821 15468824 + Frame_Shift_Del DEL ACTA ACTA - TCGA-F1-A72C-01A-21D-A33T-08 TCGA-F1-A72C-10A-01D-A33W-08 ACTA ACTA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a08eadeb-97a1-409c-b8aa-dcab40413302 cd4de7a1-1419-4e37-a807-f0d483451ebb 9 15468821 15468824 ACTA - DEL PSIP1 ENST00000380733 human ensembl 74_37 -1 known frame_shift_del c.1227_1224 p.S409fs 1.000:1.000:1.000:0.997 pfam_LEDGF pfam_LEDGF,pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom,prints_Treacle-like_TCS - no_errors PSIP1 HGNC ENSG00000164985 60 0 0 47 11 18.9655