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 LOC101927345 0 genome.wustl.edu 37 1 143391578 143391578 + RNA SNP T T A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 1 143391578 143391578 T A SNP LOC101927345 ENST00000412492 human ensembl 74_37 +1 known rna NULL NULL 0.685 - - - no_errors RP11-435B5.5 Clone_based_vega_gene ENSG00000238261 8 0 0 5 6 54.5455 HRNR 0 genome.wustl.edu 37 1 152192827 152192827 + Silent SNP G G A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 1 152192827 152192827 G A SNP HRNR ENST00000368801 human ensembl 74_37 -1 known silent c.1278 p.H426 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 102 0 0 44 85 65.8915 RHBG 0 genome.wustl.edu 37 1 156351656 156351656 + Missense_Mutation SNP G G A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 1 156351656 156351656 G A SNP RHBG ENST00000368246 human ensembl 74_37 +1 known missense c.900 p.M300I 1.000 pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD - no_errors RHBG HGNC ENSG00000132677 84 0 0 66 13 16.4557 FCRL6 0 genome.wustl.edu 37 1 159779344 159779344 + Missense_Mutation SNP G G T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 1 159779344 159779344 G T SNP FCRL6 ENST00000368106 human ensembl 74_37 +1 known missense c.757 p.A253S 0.001 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL6 HGNC ENSG00000181036 68 0 0 55 11 16.6667 BRINP3 0 genome.wustl.edu 37 1 190067205 190067205 + Silent SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 1 190067205 190067205 C T SNP BRINP3 ENST00000367462 human ensembl 74_37 -1 known silent c.2244 p.A748 0.999 NULL pfam_MACPF,smart_MACPF - no_errors BRINP3 HGNC ENSG00000162670 153 0 0 28 27 49.0909 CFHR4 0 genome.wustl.edu 37 1 196876458 196876458 + Missense_Mutation SNP A A G TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 1 196876458 196876458 A G SNP CFHR4 ENST00000367416 human ensembl 74_37 +1 known missense c.626 p.N209S 0.010 superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR4 HGNC ENSG00000134365 27 0 0 11 3 21.4286 RAB3GAP2 0 genome.wustl.edu 37 1 220366601 220366601 + Silent SNP A A G TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 1 220366601 220366601 A G SNP RAB3GAP2 ENST00000358951 human ensembl 74_37 -1 known silent c.1251 p.I417 1.000 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom - no_errors RAB3GAP2 HGNC ENSG00000118873 69 0 0 45 14 23.7288 PRSS38 0 genome.wustl.edu 37 1 228003908 228003908 + Missense_Mutation SNP T T C TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 1 228003908 228003908 T C SNP PRSS38 ENST00000366757 human ensembl 74_37 +1 known missense c.266 p.I89T 0.978 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS38 HGNC ENSG00000185888 129 0 0 113 28 19.8582 EFCAB2 0 genome.wustl.edu 37 1 245246924 245246924 + Missense_Mutation SNP G G T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 1 245246924 245246924 G T SNP EFCAB2 ENST00000366522 human ensembl 74_37 +1 known missense c.715 p.V239F 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFCAB2 HGNC ENSG00000203666 35 0 0 14 15 51.7241 KIF26B 0 genome.wustl.edu 37 1 245849034 245849034 + Nonsense_Mutation SNP G G T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 1 245849034 245849034 G T SNP KIF26B ENST00000407071 human ensembl 74_37 +1 known nonsense c.2749 p.E917* 0.998 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 35 0 0 10 22 68.75 LGI1 0 genome.wustl.edu 37 10 95557278 95557278 + Silent SNP G G A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 10 95557278 95557278 G A SNP LGI1 ENST00000371418 human ensembl 74_37 +1 known silent c.1392 p.S464 0.169 pfam_EPTP,superfamily_WD40_repeat_dom,pfscan_EAR pfam_EPTP,pfam_Leu-rich_rpt,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI1 HGNC ENSG00000108231 83 0 0 57 38 40 CTR9 0 genome.wustl.edu 37 11 10785357 10785357 + Silent SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 11 10785357 10785357 C T SNP CTR9 ENST00000361367 human ensembl 74_37 +1 known silent c.1125 p.Y375 0.996 pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CTR9 HGNC ENSG00000198730 91 0 0 27 80 74.7664 APOA4 0 genome.wustl.edu 37 11 116691970 116691970 + Silent SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 11 116691970 116691970 C T SNP APOA4 ENST00000357780 human ensembl 74_37 -1 known silent c.804 p.A268 0.151 pfam_ApoA1_A4_E pfam_ApoA1_A4_E - no_errors APOA4 HGNC ENSG00000110244 99 0 0 71 19 21.1111 HINFP 0 genome.wustl.edu 37 11 119002253 119002253 + Silent SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 11 119002253 119002253 C T SNP HINFP ENST00000350777 human ensembl 74_37 +1 known silent c.420 p.F140 1.000 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HINFP HGNC ENSG00000172273 89 0 0 73 9 10.9756 PANX3 0 genome.wustl.edu 37 11 124487353 124487353 + Missense_Mutation SNP G G A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 11 124487353 124487353 G A SNP PANX3 ENST00000284288 human ensembl 74_37 +1 known missense c.508 p.D170N 0.996 pfam_Innexin,pfscan_Innexin pfam_Innexin,pfscan_Innexin - no_errors PANX3 HGNC ENSG00000154143 100 0 0 31 50 61.7284 NAV2 0 genome.wustl.edu 37 11 20122686 20122686 + Missense_Mutation SNP G G A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 11 20122686 20122686 G A SNP NAV2 ENST00000396087 human ensembl 74_37 +1 known missense c.6562 p.A2188T 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 106 0 0 82 21 20.3883 PKP3 0 genome.wustl.edu 37 11 397169 397169 + Missense_Mutation SNP C C G TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 11 397169 397169 C G SNP PKP3 ENST00000331563 human ensembl 74_37 +1 known missense c.668 p.S223C 0.059 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP3 HGNC ENSG00000184363 41 0 0 36 4 10 OR5AS1 0 genome.wustl.edu 37 11 55798075 55798075 + Missense_Mutation SNP T T G TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 11 55798075 55798075 T G SNP OR5AS1 ENST00000313555 human ensembl 74_37 +1 known missense c.181 p.Y61D 0.994 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 OR5AS1 HGNC ENSG00000181785 60 0 0 84 10 10.6383 OR8I2 0 genome.wustl.edu 37 11 55861192 55861192 + Missense_Mutation SNP T T C TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 11 55861192 55861192 T C SNP OR8I2 ENST00000302124 human ensembl 74_37 +1 known missense c.409 p.S137P 0.855 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 OR8I2 HGNC ENSG00000172154 185 0 0 170 21 10.9948 OR5R1 0 genome.wustl.edu 37 11 56185107 56185107 + Missense_Mutation SNP G G A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 11 56185107 56185107 G A SNP OR5R1 ENST00000312253 human ensembl 74_37 -1 known missense c.602 p.A201V 0.017 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5R1 HGNC ENSG00000174942 104 0 0 110 9 7.56303 CTNND1 0 genome.wustl.edu 37 11 57581797 57581797 + Missense_Mutation SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 11 57581797 57581797 C T SNP CTNND1 ENST00000399050 human ensembl 74_37 +1 known missense c.2653 p.R885W 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND1 HGNC ENSG00000198561 24 0 0 18 3 14.2857 OR52E4 0 genome.wustl.edu 37 11 5906083 5906083 + Silent SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 11 5906083 5906083 C T SNP OR52E4 ENST00000316987 human ensembl 74_37 +1 known silent c.561 p.A187 0.002 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR52E4 HGNC ENSG00000180974 148 0 0 57 145 71.7822 ANO1 0 genome.wustl.edu 37 11 69934066 69934066 + Missense_Mutation SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 11 69934066 69934066 C T SNP ANO1 ENST00000355303 human ensembl 74_37 +1 known missense c.317 p.A106V 0.001 NULL pfam_Anoctamin - no_errors ANO1 HGNC ENSG00000131620 14 0 0 3 6 66.6667 TENM4 0 genome.wustl.edu 37 11 78380911 78380911 + Missense_Mutation SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 11 78380911 78380911 C T SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known missense c.6479 p.R2160H 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 37 0 0 13 21 61.7647 FZD4 0 genome.wustl.edu 37 11 86663299 86663299 + Missense_Mutation SNP C C A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 11 86663299 86663299 C A SNP FZD4 ENST00000531380 human ensembl 74_37 -1 known missense c.499 p.V167L 1.000 NULL pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD4 HGNC ENSG00000174804 109 0 0 108 24 18.1818 UBE3B 0 genome.wustl.edu 37 12 109921443 109921443 + Silent SNP G G A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 12 109921443 109921443 G A SNP UBE3B ENST00000342494 human ensembl 74_37 +1 known silent c.87 p.R29 1.000 superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3B HGNC ENSG00000151148 161 0 0 59 87 59.589 HECTD4 0 genome.wustl.edu 37 12 112667572 112667572 + Missense_Mutation SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 12 112667572 112667572 C T SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known missense c.5933 p.R1978H 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 175 0 0 139 32 18.7135 GOLGA3 0 genome.wustl.edu 37 12 133353343 133353343 + Splice_Site SNP C C G TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 12 133353343 133353343 C G SNP GOLGA3 ENST00000204726 human ensembl 74_37 -1 known splice_site c.3856-1 e20-1 1.000 - - - no_errors GOLGA3 HGNC ENSG00000090615 82 0 0 40 59 59.596 CACNA2D4 0 genome.wustl.edu 37 12 1992145 1992145 + Missense_Mutation SNP G G A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 12 1992145 1992145 G A SNP CACNA2D4 ENST00000382722 human ensembl 74_37 -1 known missense c.1373 p.T458M 1.000 smart_VWF_A,pfscan_VWF_A pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D4 HGNC ENSG00000151062 20 0 0 5 9 64.2857 OVCH1 0 genome.wustl.edu 37 12 29649590 29649590 + Missense_Mutation SNP G G A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 12 29649590 29649590 G A SNP OVCH1 ENST00000318184 human ensembl 74_37 -1 known missense c.82 p.R28C 0.000 superfamily_Trypsin-like_Pept_dom pfam_Peptidase_S1,pfam_CUB_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,smart_Peptidase_S1,smart_CUB_dom,pfscan_CUB_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors OVCH1 HGNC ENSG00000187950 106 0 0 156 11 6.58683 KCNA6 0 genome.wustl.edu 37 12 4919260 4919260 + Missense_Mutation SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 12 4919260 4919260 C T SNP KCNA6 ENST00000280684 human ensembl 74_37 +1 known missense c.53 p.P18L 0.037 prints_K_chnl_volt-dep_Kv1.6 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA6 HGNC ENSG00000151079 46 0 0 19 10 34.4828 TRHDE 0 genome.wustl.edu 37 12 73012712 73012712 + Missense_Mutation SNP G G T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 12 73012712 73012712 G T SNP TRHDE ENST00000261180 human ensembl 74_37 +1 known missense c.2228 p.R743I 1.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors TRHDE HGNC ENSG00000072657 73 0 0 56 12 17.6471 CCDC59 0 genome.wustl.edu 37 12 82746873 82746873 + RNA SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 12 82746873 82746873 C T SNP CCDC59 ENST00000548126 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CCDC59 HGNC ENSG00000133773 53 0 0 17 27 61.3636 PZP 0 genome.wustl.edu 37 12 9333627 9333627 + Missense_Mutation SNP G G T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 12 9333627 9333627 G T SNP PZP ENST00000261336 human ensembl 74_37 -1 known missense c.1791 p.D597E 1.000 pfam_A2M_N_2 pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors PZP HGNC ENSG00000126838 43 0 0 32 9 21.9512 DCLK1 0 genome.wustl.edu 37 13 36686248 36686248 + Missense_Mutation SNP G G A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 13 36686248 36686248 G A SNP DCLK1 ENST00000360631 human ensembl 74_37 -1 known missense c.481 p.R161W 1.000 NULL pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK1 HGNC ENSG00000133083 120 1 0.826446 182 24 11.6505 DLEU7 0 genome.wustl.edu 37 13 51417425 51417425 + Missense_Mutation SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 13 51417425 51417425 C T SNP DLEU7 ENST00000504404 human ensembl 74_37 -1 known missense c.358 p.A120T 0.995 NULL NULL - no_errors DLEU7 HGNC ENSG00000186047 19 0 0 17 5 22.7273 LOC101930578 0 genome.wustl.edu 37 13 52864001 52864001 + RNA SNP A A G TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 13 52864001 52864001 A G SNP LOC101930578 ENST00000451298 human ensembl 74_37 -1 known rna NULL NULL 0.977 - - - no_errors RP11-248G5.8 Clone_based_vega_gene ENSG00000217576 43 0 0 38 3 7.31707 PCDH9 0 genome.wustl.edu 37 13 67799641 67799641 + Missense_Mutation SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 13 67799641 67799641 C T SNP PCDH9 ENST00000377865 human ensembl 74_37 -1 known missense c.2932 p.D978N 1.000 pfam_Protocadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 112 1 0.884956 69 120 63.4921 RPL10L 0 genome.wustl.edu 37 14 47120719 47120719 + Missense_Mutation SNP T T A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 14 47120719 47120719 T A SNP RPL10L ENST00000298283 human ensembl 74_37 -1 known missense c.221 p.K74I 1.000 pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,pirsf_Ribosomal_L10e,tigrfam_Ribosomal_L10e pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,pirsf_Ribosomal_L10e,tigrfam_Ribosomal_L10e - no_errors RPL10L HGNC ENSG00000165496 103 0 0 51 16 23.8806 ZFYVE26 0 genome.wustl.edu 37 14 68238846 68238846 + Missense_Mutation SNP G G T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 14 68238846 68238846 G T SNP ZFYVE26 ENST00000347230 human ensembl 74_37 -1 known missense c.5402 p.A1801E 0.841 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE26 HGNC ENSG00000072121 22 0 0 4 10 71.4286 ADAM21 0 genome.wustl.edu 37 14 70925359 70925359 + Silent SNP T T A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 14 70925359 70925359 T A SNP ADAM21 ENST00000267499 human ensembl 74_37 +1 known silent c.1143 p.A381 0.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM21 HGNC ENSG00000139985 138 0 0 76 4 5 SPRED1 0 genome.wustl.edu 37 15 38632001 38632001 + Missense_Mutation SNP G G A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 15 38632001 38632001 G A SNP SPRED1 ENST00000299084 human ensembl 74_37 +1 known missense c.487 p.V163I 0.997 NULL pfam_Sprouty,pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors SPRED1 HGNC ENSG00000166068 79 0 0 29 39 57.3529 SPTBN5 0 genome.wustl.edu 37 15 42154034 42154034 + Missense_Mutation SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 15 42154034 42154034 C T SNP SPTBN5 ENST00000320955 human ensembl 74_37 -1 known missense c.7636 p.D2546N 0.002 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC ENSG00000137877 20 0 0 10 9 47.3684 ERCC4 0 genome.wustl.edu 37 16 14042001 14042001 + Missense_Mutation SNP G G C TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 16 14042001 14042001 G C SNP ERCC4 ENST00000311895 human ensembl 74_37 +1 known missense c.2548 p.D850H 1.000 superfamily_RuvA_2-like,tigrfam_Rad1 pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_ERCC4_domain,tigrfam_Rad1 - no_errors ERCC4 HGNC ENSG00000175595 70 0 0 32 28 46.6667 COG7 0 genome.wustl.edu 37 16 23415150 23415150 + Silent SNP T T C TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 16 23415150 23415150 T C SNP COG7 ENST00000307149 human ensembl 74_37 -1 known silent c.1668 p.K556 1.000 pfam_COG7 pfam_COG7 - no_errors COG7 HGNC ENSG00000168434 51 0 0 41 3 6.81818 TAOK2 0 genome.wustl.edu 37 16 29997928 29997928 + Missense_Mutation SNP G G T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 16 29997928 29997928 G T SNP TAOK2 ENST00000308893 human ensembl 74_37 +1 known missense c.2335 p.G779C 1.000 NULL 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 TAOK2 HGNC ENSG00000149930 107 0 0 54 47 46.5347 GLG1 0 genome.wustl.edu 37 16 74530507 74530507 + Missense_Mutation SNP C C A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 16 74530507 74530507 C A SNP GLG1 ENST00000205061 human ensembl 74_37 -1 known missense c.810 p.L270F 1.000 pfam_Cys-rich_GLG1_repeat pfam_Cys-rich_GLG1_repeat - no_errors GLG1 HGNC ENSG00000090863 233 0 0 181 17 8.58586 FAM92B 0 genome.wustl.edu 37 16 85141652 85141652 + Missense_Mutation SNP C C A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 16 85141652 85141652 C A SNP FAM92B ENST00000539556 human ensembl 74_37 -1 known missense c.309 p.Q103H 0.808 pfam_FAM92 pfam_FAM92 - no_errors FAM92B HGNC ENSG00000153789 129 0 0 45 59 56.7308 ENSG00000231645 0 genome.wustl.edu 37 17 20418736 20418736 + RNA SNP G G A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 17 20418736 20418736 G A SNP ENSG00000231645 ENST00000581013 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors AC025627.9 Clone_based_vega_gene ENSG00000231645 64 0 0 11 40 78.4314 TP53 0 genome.wustl.edu 37 17 7579406 7579406 + Nonsense_Mutation SNP G G C TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 17 7579406 7579406 G C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known nonsense c.281 p.S94* 1.000 NULL pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 114 0 0 25 47 65.2778 ENSG00000256616 0 genome.wustl.edu 37 18 12076483 12076483 + RNA SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 18 12076483 12076483 C T SNP ENSG00000256616 ENST00000591780 human ensembl 74_37 -1 known rna NULL NULL 0.330 - - - no_errors RP11-815J4.6 Clone_based_vega_gene ENSG00000256616 18 0 0 2 6 75 POTEC 0 genome.wustl.edu 37 18 14542978 14542978 + Missense_Mutation SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 18 14542978 14542978 C T SNP POTEC ENST00000358970 human ensembl 74_37 -1 known missense c.168 p.M56I 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEC HGNC ENSG00000183206 874 0 0 650 80 10.9589 SMCHD1 0 genome.wustl.edu 37 18 2760681 2760681 + Missense_Mutation SNP T T C TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 18 2760681 2760681 T C SNP SMCHD1 ENST00000320876 human ensembl 74_37 +1 known missense c.4378 p.Y1460H 0.913 NULL pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_HATPase_ATP-bd,smart_SMC_hinge - no_errors SMCHD1 HGNC ENSG00000101596 59 0 0 29 11 27.5 NETO1 0 genome.wustl.edu 37 18 70526277 70526277 + Missense_Mutation SNP C C G TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 18 70526277 70526277 C G SNP NETO1 ENST00000327305 human ensembl 74_37 -1 known missense c.253 p.D85H 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt - no_errors NETO1 HGNC ENSG00000166342 95 0 0 47 39 45.3488 ZFP82 0 genome.wustl.edu 37 19 36885068 36885068 + Missense_Mutation SNP C C G TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 19 36885068 36885068 C G SNP ZFP82 ENST00000392171 human ensembl 74_37 -1 known missense c.174 p.M58I 0.001 smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP82 HGNC ENSG00000181007 36 0 0 30 6 16.6667 SCAF1 0 genome.wustl.edu 37 19 50156862 50156862 + Silent SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 19 50156862 50156862 C T SNP SCAF1 ENST00000360565 human ensembl 74_37 +1 known silent c.3216 p.D1072 0.003 NULL NULL - no_errors SCAF1 HGNC ENSG00000126461 13 0 0 1 7 87.5 BCL2L12 0 genome.wustl.edu 37 19 50172124 50172124 + Missense_Mutation SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 19 50172124 50172124 C T SNP BCL2L12 ENST00000246784 human ensembl 74_37 +1 known missense c.376 p.L126F 0.938 NULL NULL - no_errors BCL2L12 HGNC ENSG00000126453 114 0 0 82 14 14.5833 DUXA 0 genome.wustl.edu 37 19 57666682 57666682 + Missense_Mutation SNP G G A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 19 57666682 57666682 G A SNP DUXA ENST00000554048 human ensembl 74_37 -1 known missense c.497 p.A166V 0.001 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif - no_errors DUXA HGNC ENSG00000258873 64 0 0 56 36 39.1304 AFF3 0 genome.wustl.edu 37 2 100210469 100210469 + Missense_Mutation SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 2 100210469 100210469 C T SNP AFF3 ENST00000356421 human ensembl 74_37 -1 known missense c.1729 p.A577T 0.747 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC ENSG00000144218 112 0 0 59 51 46.3636 EDAR 0 genome.wustl.edu 37 2 109513576 109513576 + Silent SNP G G A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 2 109513576 109513576 G A SNP EDAR ENST00000376651 human ensembl 74_37 -1 known silent c.1230 p.A410 0.006 pfam_Death_domain,superfamily_DEATH-like_dom pfam_Death_domain,superfamily_DEATH-like_dom - no_errors EDAR HGNC ENSG00000135960 71 0 0 48 14 22.5806 FBLN7 0 genome.wustl.edu 37 2 112942907 112942907 + Missense_Mutation SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 2 112942907 112942907 C T SNP FBLN7 ENST00000331203 human ensembl 74_37 +1 known missense c.938 p.T313M 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,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 - no_errors FBLN7 HGNC ENSG00000144152 96 0 0 47 27 36.4865 LRP1B 0 genome.wustl.edu 37 2 141031994 141031994 + Missense_Mutation SNP T T C TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 2 141031994 141031994 T C SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.13141 p.N4381D 1.000 smart_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 64 0 0 36 28 43.75 LRP1B 0 genome.wustl.edu 37 2 141072650 141072650 + Missense_Mutation SNP G G C TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 2 141072650 141072650 G C SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.12659 p.T4220S 0.997 superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 58 0 0 36 18 33.3333 LRP1B 0 genome.wustl.edu 37 2 141473650 141473650 + Missense_Mutation SNP T T A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 2 141473650 141473650 T A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.5915 p.H1972L 1.000 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 133 0 0 99 10 9.17431 NEB 0 genome.wustl.edu 37 2 152425193 152425193 + Missense_Mutation SNP G G A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 2 152425193 152425193 G A SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.17573 p.T5858M 1.000 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 9 0 0 18 3 14.2857 EVX2 0 genome.wustl.edu 37 2 176946938 176946938 + Missense_Mutation SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 2 176946938 176946938 C T SNP EVX2 ENST00000308618 human ensembl 74_37 -1 known missense c.667 p.A223T 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Antifreeze_1,prints_Homeobox_metazoa - no_errors EVX2 HGNC ENSG00000174279 25 0 0 34 7 17.0732 SMC6 0 genome.wustl.edu 37 2 17847705 17847705 + Missense_Mutation SNP A A C TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 2 17847705 17847705 A C SNP SMC6 ENST00000381272 human ensembl 74_37 -1 known missense c.3221 p.L1074R 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors SMC6 HGNC ENSG00000163029 32 0 0 16 10 38.4615 TTN 0 genome.wustl.edu 37 2 179464329 179464329 + Missense_Mutation SNP C C A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 2 179464329 179464329 C A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.48595 p.V16199L 0.999 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 283 0 0 157 115 42.2794 TTN 0 genome.wustl.edu 37 2 179647717 179647717 + Silent SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 2 179647717 179647717 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.2916 p.P972 0.038 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 100 0 0 43 37 46.25 SF3B1 0 genome.wustl.edu 37 2 198257729 198257729 + Missense_Mutation SNP A A C TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 2 198257729 198257729 A C SNP SF3B1 ENST00000335508 human ensembl 74_37 -1 known missense c.3723 p.I1241M 1.000 superfamily_ARM-type_fold pfam_SF3b_su1,superfamily_ARM-type_fold - no_errors SF3B1 HGNC ENSG00000115524 86 0 0 66 15 18.5185 CYP20A1 0 genome.wustl.edu 37 2 204111644 204111644 + Missense_Mutation SNP T T G TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 2 204111644 204111644 T G SNP CYP20A1 ENST00000356079 human ensembl 74_37 +1 known missense c.289 p.S97A 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV - no_errors CYP20A1 HGNC ENSG00000119004 172 0 0 120 60 33.3333 FASTKD2 0 genome.wustl.edu 37 2 207655332 207655332 + Silent SNP T T C TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 2 207655332 207655332 T C SNP FASTKD2 ENST00000236980 human ensembl 74_37 +1 known silent c.1935 p.C645 0.993 pfam_RAP,smart_RAP pfam_FAST_Leu-rich,pfam_FAST_2,pfam_RAP,smart_RAP - no_errors FASTKD2 HGNC ENSG00000118246 194 0 0 108 59 35.3293 SPP2 0 genome.wustl.edu 37 2 234959729 234959729 + Missense_Mutation SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 2 234959729 234959729 C T SNP SPP2 ENST00000168148 human ensembl 74_37 +1 known missense c.200 p.S67L 0.912 pfam_Prot_inh_cystat pfam_Spp-24,pfam_Prot_inh_cystat - no_errors SPP2 HGNC ENSG00000072080 62 0 0 35 28 44.4444 TTC27 0 genome.wustl.edu 37 2 33007732 33007732 + Nonsense_Mutation SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 2 33007732 33007732 C T SNP TTC27 ENST00000317907 human ensembl 74_37 +1 known nonsense c.1819 p.R607* 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC27 HGNC ENSG00000018699 44 0 0 46 6 11.5385 SLC8A1 0 genome.wustl.edu 37 2 40366566 40366566 + Silent SNP G G A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 2 40366566 40366566 G A SNP SLC8A1 ENST00000332839 human ensembl 74_37 -1 known silent c.2520 p.F840 0.999 pfam_NaCa_Exmemb,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_domain,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex - no_errors SLC8A1 HGNC ENSG00000183023 61 0 0 28 17 37.7778 ALMS1 0 genome.wustl.edu 37 2 73677419 73677419 + Missense_Mutation SNP T T A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 2 73677419 73677419 T A SNP ALMS1 ENST00000264448 human ensembl 74_37 +1 known missense c.3762 p.D1254E 0.003 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 136 0 0 155 20 11.4286 C20orf26 0 genome.wustl.edu 37 20 20243679 20243679 + Missense_Mutation SNP C C A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 20 20243679 20243679 C A SNP C20orf26 ENST00000245957 human ensembl 74_37 +1 known missense c.2408 p.T803K 0.989 NULL superfamily_Acyl_CoA_acyltransferase - no_errors C20orf26 HGNC ENSG00000089101 98 0 0 141 35 19.8864 CD93 0 genome.wustl.edu 37 20 23064978 23064978 + Missense_Mutation SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 20 23064978 23064978 C T SNP CD93 ENST00000246006 human ensembl 74_37 -1 known missense c.1852 p.E618K 0.204 superfamily_MFS_dom_general_subst_transpt pirsf_CD93/CD141,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_MFS_dom_general_subst_transpt,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_C-type_lectin - no_errors CD93 HGNC ENSG00000125810 202 0 0 172 87 33.5907 TP53TG5 0 genome.wustl.edu 37 20 44003774 44003774 + Missense_Mutation SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 20 44003774 44003774 C T SNP TP53TG5 ENST00000372726 human ensembl 74_37 -1 known missense c.673 p.V225M 0.993 NULL NULL - no_errors TP53TG5 HGNC ENSG00000124251 90 0 0 113 9 7.37705 PARD6B 0 genome.wustl.edu 37 20 49366625 49366625 + Missense_Mutation SNP G G A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 20 49366625 49366625 G A SNP PARD6B ENST00000371610 human ensembl 74_37 +1 known missense c.719 p.R240H 1.000 superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_OPR_PB1,pfam_PDZ,superfamily_PDZ,smart_OPR_PB1,smart_PDZ,pfscan_PDZ - no_errors PARD6B HGNC ENSG00000124171 141 0 0 152 48 24 RAE1 0 genome.wustl.edu 37 20 55942112 55942112 + Missense_Mutation SNP G G A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 20 55942112 55942112 G A SNP RAE1 ENST00000371242 human ensembl 74_37 +1 known missense c.511 p.E171K 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors RAE1 HGNC ENSG00000101146 109 0 0 156 34 17.8947 NCAM2 0 genome.wustl.edu 37 21 22881188 22881188 + Silent SNP T T A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 21 22881188 22881188 T A SNP NCAM2 ENST00000400546 human ensembl 74_37 +1 known silent c.2094 p.G698 0.932 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh - no_errors NCAM2 HGNC ENSG00000154654 33 0 0 15 7 31.8182 LTN1 0 genome.wustl.edu 37 21 30357128 30357128 + Missense_Mutation SNP G G C TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 21 30357128 30357128 G C SNP LTN1 ENST00000389194 human ensembl 74_37 -1 known missense c.599 p.A200G 1.000 superfamily_ARM-type_fold pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors LTN1 HGNC ENSG00000198862 85 0 0 46 25 35.2113 CCT8L2 0 genome.wustl.edu 37 22 17073169 17073169 + Missense_Mutation SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 22 17073169 17073169 C T SNP CCT8L2 ENST00000359963 human ensembl 74_37 -1 known missense c.272 p.R91Q 0.823 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1 - no_errors CCT8L2 HGNC ENSG00000198445 62 0 0 38 14 26.9231 GSTT2 0 genome.wustl.edu 37 22 24323151 24323151 + Missense_Mutation SNP G G A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 22 24323151 24323151 G A SNP GSTT2 ENST00000215780 human ensembl 74_37 +1 known missense c.125 p.S42N 0.000 pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold - no_errors GSTT2 HGNC ENSG00000099984 145 0 0 104 13 11.1111 CHKB 0 genome.wustl.edu 37 22 51020991 51020991 + Missense_Mutation SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 22 51020991 51020991 C T SNP CHKB ENST00000406938 human ensembl 74_37 -1 known missense c.220 p.V74M 0.974 pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom pfam_Aminoglycoside_PTrfase,pfam_DUF227,superfamily_Kinase-like_dom - no_errors CHKB HGNC ENSG00000100288 13 0 0 8 3 27.2727 GOLGB1 0 genome.wustl.edu 37 3 121388080 121388080 + Missense_Mutation SNP C C A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 3 121388080 121388080 C A SNP GOLGB1 ENST00000340645 human ensembl 74_37 -1 known missense c.9285 p.K3095N 0.677 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 94 0 0 101 20 16.5289 GOLGB1 0 genome.wustl.edu 37 3 121413488 121413488 + Missense_Mutation SNP G G C TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 3 121413488 121413488 G C SNP GOLGB1 ENST00000340645 human ensembl 74_37 -1 known missense c.5867 p.S1956C 1.000 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 211 0 0 132 79 37.4408 DNAJB8 0 genome.wustl.edu 37 3 128181963 128181963 + Silent SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 3 128181963 128181963 C T SNP DNAJB8 ENST00000319153 human ensembl 74_37 -1 known silent c.126 p.A42 0.001 pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJB8 HGNC ENSG00000179407 235 0 0 99 72 42.1053 NPHP3 0 genome.wustl.edu 37 3 132416142 132416142 + Nonsense_Mutation SNP C C A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 3 132416142 132416142 C A SNP NPHP3 ENST00000337331 human ensembl 74_37 -1 known nonsense c.2050 p.E684* 1.000 superfamily_P-loop_NTPase pfam_TPR_1,pfam_TPR-3,superfamily_P-loop_NTPase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NPHP3 HGNC ENSG00000113971 148 0 0 116 13 10.0775 MUC4 0 genome.wustl.edu 37 3 195477791 195477791 + Silent SNP G G A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 3 195477791 195477791 G A SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known silent c.15840 p.I5280 0.591 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 ENSG00000145113 74 0 0 46 4 8 SCN5A 0 genome.wustl.edu 37 3 38618180 38618180 + Silent SNP G G C TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 3 38618180 38618180 G C SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known silent c.3483 p.V1161 1.000 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 13 0 0 14 5 26.3158 SCN10A 0 genome.wustl.edu 37 3 38748813 38748813 + Missense_Mutation SNP T T G TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 3 38748813 38748813 T G SNP SCN10A ENST00000449082 human ensembl 74_37 -1 known missense c.4343 p.K1448T 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 108 0 0 58 24 29.2683 ULK4 0 genome.wustl.edu 37 3 41954327 41954327 + Nonsense_Mutation SNP C C A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 3 41954327 41954327 C A SNP ULK4 ENST00000301831 human ensembl 74_37 -1 known nonsense c.868 p.E290* 0.004 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ULK4 HGNC ENSG00000168038 71 0 0 37 38 50.6667 RAD18 0 genome.wustl.edu 37 3 8932127 8932127 + Missense_Mutation SNP G G A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 3 8932127 8932127 G A SNP RAD18 ENST00000264926 human ensembl 74_37 -1 known missense c.1331 p.S444L 1.000 NULL pfam_SAP_dom,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_Rad18_put,smart_SAP_dom,pfscan_Znf_RING,pfscan_SAP_dom - no_errors RAD18 HGNC ENSG00000070950 110 0 0 17 32 65.3061 FBXW7 0 genome.wustl.edu 37 4 153250850 153250850 + Missense_Mutation SNP T T C TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 4 153250850 153250850 T C SNP FBXW7 ENST00000281708 human ensembl 74_37 -1 known missense c.1210 p.K404E 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC ENSG00000109670 116 0 0 16 72 81.8182 ENSG00000253917 0 genome.wustl.edu 37 4 3949933 3949933 + RNA SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 4 3949933 3949933 C T SNP ENSG00000253917 ENST00000281228 human ensembl 74_37 -1 known rna NULL NULL 0.397 - - - no_errors AC226119.5 Clone_based_vega_gene ENSG00000253917 47 0 0 38 3 7.31707 UBA6-AS1 0 genome.wustl.edu 37 4 68928785 68928785 + RNA SNP T T A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 4 68928785 68928785 T A SNP UBA6-AS1 ENST00000499180 human ensembl 74_37 +1 known rna NULL NULL 0.416 - - - no_errors UBA6-AS1 HGNC ENSG00000248049 90 0 0 25 52 67.5325 ADAMTS3 0 genome.wustl.edu 37 4 73177911 73177911 + RNA SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 4 73177911 73177911 C T SNP ADAMTS3 ENST00000511274 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors ADAMTS3 HGNC ENSG00000156140 19 0 0 5 19 79.1667 CHSY3 0 genome.wustl.edu 37 5 129520330 129520330 + Missense_Mutation SNP G G A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 5 129520330 129520330 G A SNP CHSY3 ENST00000305031 human ensembl 74_37 +1 known missense c.1495 p.V499I 0.963 pfam_Chond_GalNAc pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHSY3 HGNC ENSG00000198108 64 0 0 13 39 75 PCDHB7 0 genome.wustl.edu 37 5 140554431 140554431 + Missense_Mutation SNP G G A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 5 140554431 140554431 G A SNP PCDHB7 ENST00000231137 human ensembl 74_37 +1 known missense c.2015 p.R672Q 0.009 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC ENSG00000113212 393 0 0 142 73 33.9535 NMUR2 0 genome.wustl.edu 37 5 151775064 151775064 + Missense_Mutation SNP C C G TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 5 151775064 151775064 C G SNP NMUR2 ENST00000255262 human ensembl 74_37 -1 known missense c.893 p.S298T 0.914 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NeuromedU_rcpt_2 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NeuromedU_rcpt_2,prints_NeuromedU_rcpt,prints_GPCR_Rhodpsn - no_errors NMUR2 HGNC ENSG00000132911 92 0 0 41 4 8.88889 ADRA1B 0 genome.wustl.edu 37 5 159344848 159344848 + Silent SNP C C A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 5 159344848 159344848 C A SNP ADRA1B ENST00000306675 human ensembl 74_37 +1 known silent c.936 p.I312 0.974 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA1B_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRA1B HGNC ENSG00000170214 145 0 0 19 55 74.3243 ZNF622 0 genome.wustl.edu 37 5 16465699 16465699 + Missense_Mutation SNP C C G TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 5 16465699 16465699 C G SNP ZNF622 ENST00000308683 human ensembl 74_37 -1 known missense c.76 p.D26H 1.000 smart_Znf_U1,smart_Znf_C2H2-like pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF622 HGNC ENSG00000173545 79 0 0 67 37 35.5769 AHI1 0 genome.wustl.edu 37 6 135784313 135784313 + Missense_Mutation SNP T T C TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 6 135784313 135784313 T C SNP AHI1 ENST00000265602 human ensembl 74_37 -1 known missense c.881 p.Q294R 0.919 NULL pfam_WD40_repeat,pfam_SH3_domain,pfam_SH3_2,superfamily_WD40_repeat_dom,superfamily_SH3_domain,smart_WD40_repeat,smart_SH3_domain,pfscan_SH3_domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_SH3_domain - no_errors AHI1 HGNC ENSG00000135541 69 0 0 67 4 5.6338 HIST1H2AB 0 genome.wustl.edu 37 6 26033708 26033708 + Missense_Mutation SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 6 26033708 26033708 C T SNP HIST1H2AB ENST00000259791 human ensembl 74_37 -1 known missense c.89 p.R30Q 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AB HGNC ENSG00000137259 88 0 0 56 56 50 RGL2 0 genome.wustl.edu 37 6 33260908 33260908 + Missense_Mutation SNP G G T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 6 33260908 33260908 G T SNP RGL2 ENST00000497454 human ensembl 74_37 -1 known missense c.1892 p.A631D 0.588 NULL pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RGL2 HGNC ENSG00000237441 200 0 0 258 31 10.7266 KCTD20 0 genome.wustl.edu 37 6 36454780 36454780 + Missense_Mutation SNP G G A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 6 36454780 36454780 G A SNP KCTD20 ENST00000373731 human ensembl 74_37 +1 known missense c.1088 p.R363H 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD20 HGNC ENSG00000112078 177 0 0 122 104 46.0177 PRPF4B 0 genome.wustl.edu 37 6 4032190 4032190 + Nonsense_Mutation SNP G G T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 6 4032190 4032190 G T SNP PRPF4B ENST00000337659 human ensembl 74_37 +1 known nonsense c.439 p.E147* 1.000 NULL 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 PRPF4B HGNC ENSG00000112739 104 0 0 75 92 55.0898 UNC5CL 0 genome.wustl.edu 37 6 40998414 40998414 + Silent SNP G G T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 6 40998414 40998414 G T SNP UNC5CL ENST00000244565 human ensembl 74_37 -1 known silent c.1200 p.S400 0.984 NULL pfam_ZU5,pfam_Death_domain,superfamily_DEATH-like_dom,smart_ZU5,smart_Death_domain,pfscan_Death_domain,pfscan_ZU5 - no_errors UNC5CL HGNC ENSG00000124602 82 0 0 77 7 8.33333 USP49 0 genome.wustl.edu 37 6 41774587 41774587 + Silent SNP G G A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 6 41774587 41774587 G A SNP USP49 ENST00000373009 human ensembl 74_37 -1 known silent c.135 p.A45 1.000 pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP49 HGNC ENSG00000164663 138 0 0 147 18 10.9091 TFAP2D 0 genome.wustl.edu 37 6 50740473 50740473 + Missense_Mutation SNP G G A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 6 50740473 50740473 G A SNP TFAP2D ENST00000008391 human ensembl 74_37 +1 known missense c.1255 p.G419R 0.998 NULL pfam_TF_AP2_C,prints_TF_AP2_C - no_errors TFAP2D HGNC ENSG00000008197 65 0 0 75 14 15.7303 DSP 0 genome.wustl.edu 37 6 7565711 7565711 + Silent SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 6 7565711 7565711 C T SNP DSP ENST00000379802 human ensembl 74_37 +1 known silent c.897 p.S299 0.777 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 55 0 0 75 20 21.0526 GJB7 0 genome.wustl.edu 37 6 87994325 87994325 + Missense_Mutation SNP C C A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 6 87994325 87994325 C A SNP GJB7 ENST00000296882 human ensembl 74_37 -1 known missense c.306 p.E102D 0.919 pfam_Connexin_N pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJB7 HGNC ENSG00000164411 114 0 0 105 20 16 MUC17 0 genome.wustl.edu 37 7 100680453 100680453 + Missense_Mutation SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 7 100680453 100680453 C T SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.5756 p.S1919L 0.003 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 448 0 0 239 69 22.4026 PPP1R3A 0 genome.wustl.edu 37 7 113519744 113519744 + Missense_Mutation SNP T T G TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 7 113519744 113519744 T G SNP PPP1R3A ENST00000284601 human ensembl 74_37 -1 known missense c.1403 p.K468T 0.000 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC ENSG00000154415 59 0 0 61 21 25.6098 NUP205 0 genome.wustl.edu 37 7 135291543 135291543 + Missense_Mutation SNP A A G TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 7 135291543 135291543 A G SNP NUP205 ENST00000285968 human ensembl 74_37 +1 known missense c.2950 p.R984G 0.999 pfam_Nup186/Nup192/Nup205 pfam_Nup186/Nup192/Nup205 - no_errors NUP205 HGNC ENSG00000155561 121 0 0 45 52 53.6082 TTC26 0 genome.wustl.edu 37 7 138824648 138824648 + Missense_Mutation SNP G G T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 7 138824648 138824648 G T SNP TTC26 ENST00000464848 human ensembl 74_37 +1 known missense c.247 p.A83S 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC26 HGNC ENSG00000105948 59 0 0 54 10 15.625 KRBA1 0 genome.wustl.edu 37 7 149418620 149418620 + Missense_Mutation SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 7 149418620 149418620 C T SNP KRBA1 ENST00000255992 human ensembl 74_37 +1 known missense c.460 p.P154S 0.223 NULL NULL - no_errors KRBA1 HGNC ENSG00000133619 22 0 0 7 7 50 DNAH11 0 genome.wustl.edu 37 7 21621622 21621622 + Silent SNP T T C TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 7 21621622 21621622 T C SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known silent c.1693 p.L565 1.000 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 91 0 0 55 29 34.5238 DNAH11 0 genome.wustl.edu 37 7 21654888 21654888 + Nonsense_Mutation SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 7 21654888 21654888 C T SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known nonsense c.4009 p.R1337* 0.603 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 65 0 0 33 7 17.5 NCF1 0 genome.wustl.edu 37 7 74193734 74193734 + Missense_Mutation SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 7 74193734 74193734 C T SNP NCF1 ENST00000289473 human ensembl 74_37 +1 known missense c.361 p.R121C 1.000 superfamily_Phox,smart_Phox,pfscan_Phox,prints_P47PHOX pfam_SH3_domain,pfam_NADPH_oxidase_p47Phox_C,pfam_SH3_2,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain,prints_P47PHOX - no_errors NCF1 HGNC ENSG00000158517 52 0 0 32 12 27.2727 CSGALNACT1 0 genome.wustl.edu 37 8 19277976 19277976 + Missense_Mutation SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 8 19277976 19277976 C T SNP CSGALNACT1 ENST00000311540 human ensembl 74_37 -1 known missense c.1007 p.R336Q 0.996 pfam_Chond_GalNAc pfam_Chond_GalNAc - no_errors CSGALNACT1 HGNC ENSG00000147408 196 0 0 255 27 9.57447 AGPAT6 0 genome.wustl.edu 37 8 41467367 41467367 + Nonsense_Mutation SNP G G A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 8 41467367 41467367 G A SNP AGPAT6 ENST00000396987 human ensembl 74_37 +1 known nonsense c.429 p.W143* 1.000 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors AGPAT6 HGNC ENSG00000158669 118 0 0 75 35 31.8182 PPP1R42 0 genome.wustl.edu 37 8 67929969 67929969 + Missense_Mutation SNP G G A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 8 67929969 67929969 G A SNP PPP1R42 ENST00000522909 human ensembl 74_37 -1 known missense c.14 p.T5I 0.996 NULL pfam_Leu-rich_rpt - no_errors PPP1R42 HGNC ENSG00000178125 48 0 0 23 31 57.4074 CA2 0 genome.wustl.edu 37 8 86386597 86386597 + Missense_Mutation SNP A A G TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 8 86386597 86386597 A G SNP CA2 ENST00000520127 human ensembl 74_37 +1 known missense c.277 p.S93G 0.998 pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA2 HGNC ENSG00000104267 191 0 0 58 77 57.037 ZNF462 0 genome.wustl.edu 37 9 109689674 109689674 + Missense_Mutation SNP G G A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 9 109689674 109689674 G A SNP ZNF462 ENST00000457913 human ensembl 74_37 +1 known missense c.3481 p.E1161K 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 207 0 0 124 31 20 NSMF 0 genome.wustl.edu 37 9 140347581 140347581 + Missense_Mutation SNP A A G TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 9 140347581 140347581 A G SNP NSMF ENST00000371475 human ensembl 74_37 -1 known missense c.974 p.L325P 0.997 NULL superfamily_P-loop_NTPase - no_errors NSMF HGNC ENSG00000165802 47 0 0 39 5 11.3636 NPR2 0 genome.wustl.edu 37 9 35805937 35805937 + Missense_Mutation SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 9 35805937 35805937 C T SNP NPR2 ENST00000342694 human ensembl 74_37 +1 known missense c.2158 p.R720C 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors NPR2 HGNC ENSG00000159899 100 0 0 78 32 29.0909 KDM4C 0 genome.wustl.edu 37 9 7128217 7128217 + Missense_Mutation SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 9 7128217 7128217 C T SNP KDM4C ENST00000381309 human ensembl 74_37 +1 known missense c.2762 p.T921I 1.000 smart_Tudor pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,superfamily_Chorismate_mutase_type_II,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4C HGNC ENSG00000107077 66 0 0 46 33 41.7722 SPATA31D1 0 genome.wustl.edu 37 9 84606105 84606105 + Silent SNP C C A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 9 84606105 84606105 C A SNP SPATA31D1 ENST00000344803 human ensembl 74_37 +1 known silent c.720 p.P240 0.000 NULL NULL - no_errors SPATA31D1 HGNC ENSG00000214929 313 0 0 275 26 8.63787 ERCC6L2 0 genome.wustl.edu 37 9 98691121 98691121 + Missense_Mutation SNP G G A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 9 98691121 98691121 G A SNP ERCC6L2 ENST00000437817 human ensembl 74_37 +1 known missense c.1192 p.V398I 1.000 pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6L2 HGNC ENSG00000182150 97 0 0 85 17 16.6667 ZNF645 0 genome.wustl.edu 37 X 22291239 22291239 + Missense_Mutation SNP A A C TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 X 22291239 22291239 A C SNP ZNF645 ENST00000323684 human ensembl 74_37 +1 known missense c.131 p.N44T 0.481 NULL pfscan_Znf_RING,pfscan_Znf_C2H2 - no_errors ZNF645 HGNC ENSG00000175809 62 0 0 86 8 8.51064 ARSD 0 genome.wustl.edu 37 X 2832782 2832782 + RNA SNP C C T TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 X 2832782 2832782 C T SNP ARSD ENST00000217890 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors ARSD HGNC ENSG00000006756 162 0 0 143 22 13.3333 USP9X 0 genome.wustl.edu 37 X 41069826 41069826 + Missense_Mutation SNP G G A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 X 41069826 41069826 G A SNP USP9X ENST00000324545 human ensembl 74_37 +1 known missense c.5080 p.V1694M 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP9X HGNC ENSG00000124486 55 0 0 5 82 94.2529 RPS4X 0 genome.wustl.edu 37 X 71492543 71492543 + Missense_Mutation SNP G G A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 X 71492543 71492543 G A SNP RPS4X ENST00000316084 human ensembl 74_37 -1 known missense c.770 p.A257V 0.996 NULL pfam_Ribosomal_S4e_central_region,pfam_Ribosomal_S4e_N,pfam_S4_RNA-bd,pfam_KOW,smart_S4_RNA-bd,pirsf_Ribosomal_S4e,pfscan_S4_RNA-bd - no_errors RPS4X HGNC ENSG00000198034 30 0 0 28 2 6.66667 TBX22 0 genome.wustl.edu 37 X 79286562 79286562 + Silent SNP C C A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 X 79286562 79286562 C A SNP TBX22 ENST00000373294 human ensembl 74_37 +1 known silent c.1515 p.G505 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX22 HGNC ENSG00000122145 40 0 0 22 11 33.3333 PABPC5 0 genome.wustl.edu 37 X 90691445 90691445 + Missense_Mutation SNP G G A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 X 90691445 90691445 G A SNP PABPC5 ENST00000312600 human ensembl 74_37 +1 known missense c.869 p.R290Q 0.996 tigrfam_PABP_1234 pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC5 HGNC ENSG00000174740 46 0 0 30 6 16.6667 LOC101930657 0 genome.wustl.edu 37 1 745371 745371 + RNA DEL A A - TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 1 745371 745371 A - DEL LOC101930657 ENST00000412115 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors RP11-206L10.9 Clone_based_vega_gene ENSG00000237491 22 0 0 10 4 28.5714 PRR5L 0 genome.wustl.edu 37 11 36467865 36467865 + Frame_Shift_Del DEL A A - TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 11 36467865 36467865 A - DEL PRR5L ENST00000378867 human ensembl 74_37 +1 known frame_shift_del c.460 p.I154fs 1.000 pfam_HbrB pfam_HbrB - no_errors PRR5L HGNC ENSG00000135362 82 0 0 16 35 68.6275 TMEM132A 0 genome.wustl.edu 37 11 60703766 60703768 + In_Frame_Del DEL AGG AGG - TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 11 60703766 60703768 AGG - DEL TMEM132A ENST00000005286 human ensembl 74_37 +1 known in_frame_del c.2462_2464 p.E823in_frame_del 0.052:0.297:0.411 NULL NULL - no_errors TMEM132A HGNC ENSG00000006118 96 0 0 36 55 60.4396 AKAP11 0 genome.wustl.edu 37 13 42873858 42873859 + Frame_Shift_Ins INS - - A TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 13 42873858 42873859 - A INS AKAP11 ENST00000025301 human ensembl 74_37 +1 known frame_shift_ins c.976_977 p.S328fs 1.000:1.000 NULL NULL - no_errors AKAP11 HGNC ENSG00000023516 106 0 0 133 16 10.7383 LRP1B 0 genome.wustl.edu 37 2 141819648 141819648 + Frame_Shift_Del DEL T T - TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 2 141819648 141819648 T - DEL LRP1B ENST00000389484 human ensembl 74_37 -1 known frame_shift_del c.1208 p.N403fs 1.000 pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 163 0 0 85 46 35.1145 BBS5 0 genome.wustl.edu 37 2 170338792 170338792 + Frame_Shift_Del DEL A A - TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 2 170338792 170338792 A - DEL BBS5 ENST00000554017 human ensembl 74_37 +1 known frame_shift_del c.91 p.I31fs 1.000 pfam_BBL5,smart_DM16_repeat pfam_BBL5,pfam_Kelch_1,smart_DM16_repeat,smart_Kelch_1 - no_errors BBS5 HGNC ENSG00000163093 222 0 0 186 29 13.4884 SATB1 0 genome.wustl.edu 37 3 18456611 18456611 + Frame_Shift_Del DEL G G - TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 3 18456611 18456611 G - DEL SATB1 ENST00000417717 human ensembl 74_37 -1 known frame_shift_del c.631 p.L211fs 1.000 superfamily_Lambda_DNA-bd_dom pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors SATB1 HGNC ENSG00000182568 96 0 0 90 15 14.2857 AFF1 0 genome.wustl.edu 37 4 88011158 88011169 + In_Frame_Del DEL CTCCTTTGACAG CTCCTTTGACAG - TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 CTCCTTTGACAG CTCCTTTGACAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 4 88011158 88011169 CTCCTTTGACAG - DEL AFF1 ENST00000395146 human ensembl 74_37 +1 known in_frame_del c.1127_1138 p.PLTA377in_frame_del 0.998:0.995:1.000:0.998:0.946:0.796:0.996:1.000:1.000:1.000:1.000:1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF1 HGNC ENSG00000172493 94 0 0 70 6 7.89474 P4HA2 0 genome.wustl.edu 37 5 131528850 131528850 + RNA DEL C C - TCGA-BR-8678-01A-11D-2394-08 TCGA-BR-8678-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 69ab9742-cef4-48d6-af97-cbab33a0bb8f 69ead55b-d90a-4eff-86b6-b2bcfdb8f9a3 5 131528850 131528850 C - DEL P4HA2 ENST00000506807 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors P4HA2 HGNC ENSG00000072682 35 0 0 20 8 28.5714