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 ADORA3 0 genome.wustl.edu 37 1 112045632 112045632 + Silent SNP G G A TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 1 112045632 112045632 G A SNP ADORA3 ENST00000369716 human ensembl 74_37 -1 known silent c.345 p.T115 0.027 pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adeno_A3_rcpt,prints_GPCR_Rhodpsn - no_errors ADORA3 HGNC ENSG00000121933 48 0 0 70 24 25.5319 ST7L 0 genome.wustl.edu 37 1 113126609 113126609 + Missense_Mutation SNP G G A TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 1 113126609 113126609 G A SNP ST7L ENST00000358039 human ensembl 74_37 -1 known missense c.841 p.H281Y 1.000 pfam_ST7 pfam_ST7 - no_errors ST7L HGNC ENSG00000007341 122 0 0 87 56 39.1608 NBPF10 0 genome.wustl.edu 37 1 145367767 145367767 + Missense_Mutation SNP G G A TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 1 145367767 145367767 G A SNP NBPF10 ENST00000342960 human ensembl 74_37 +1 known missense c.10363 p.E3455K 0.000 NULL pfam_NBPF_dom - no_errors NBPF10 HGNC ENSG00000163386 61 0 0 79 5 5.95238 ANKRD34A 0 genome.wustl.edu 37 1 145474797 145474797 + Missense_Mutation SNP G G A TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 1 145474797 145474797 G A SNP ANKRD34A ENST00000323397 human ensembl 74_37 +1 known missense c.1469 p.G490E 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD34A HGNC ENSG00000181039 23 0 0 33 2 5.71429 HAPLN2 0 genome.wustl.edu 37 1 156594403 156594403 + Missense_Mutation SNP G G T TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 1 156594403 156594403 G T SNP HAPLN2 ENST00000255039 human ensembl 74_37 +1 known missense c.567 p.E189D 1.000 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link,prints_Link pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like_dom,prints_Link - no_errors HAPLN2 HGNC ENSG00000132702 17 0 0 47 4 7.84314 OR2T8 0 genome.wustl.edu 37 1 248084854 248084854 + Missense_Mutation SNP A A G TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 1 248084854 248084854 A G SNP OR2T8 ENST00000319968 human ensembl 74_37 +1 known missense c.535 p.T179A 0.009 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T8 HGNC ENSG00000177462 20 0 0 27 11 28.9474 SRRM1 0 genome.wustl.edu 37 1 24993374 24993374 + Missense_Mutation SNP C C A TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 1 24993374 24993374 C A SNP SRRM1 ENST00000447431 human ensembl 74_37 +1 known missense c.1733 p.P578H 1.000 NULL pfam_PWI_dom,superfamily_PWI_dom,smart_PWI_dom - no_errors SRRM1 HGNC ENSG00000133226 44 0 0 102 7 6.42202 PEF1 0 genome.wustl.edu 37 1 32098238 32098238 + Silent SNP G G A TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 1 32098238 32098238 G A SNP PEF1 ENST00000373703 human ensembl 74_37 -1 known silent c.483 p.N161 1.000 smart_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors PEF1 HGNC ENSG00000162517 45 0 0 42 6 12.5 PRDM16 0 genome.wustl.edu 37 1 3334448 3334448 + Silent SNP G G A TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 1 3334448 3334448 G A SNP PRDM16 ENST00000270722 human ensembl 74_37 +1 known silent c.2748 p.A916 0.240 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM16 HGNC ENSG00000142611 249 0 0 200 141 41.349 FAM183A 0 genome.wustl.edu 37 1 43621984 43621984 + Nonstop_Mutation SNP G G T TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 1 43621984 43621984 G T SNP FAM183A ENST00000410048 human ensembl 74_37 +1 putative nonstop c.321 p.*107Y 0.124 NULL NULL - no_errors FAM183A HGNC ENSG00000186973 131 0 0 105 78 42.623 PIK3CD 0 genome.wustl.edu 37 1 9784136 9784136 + Nonsense_Mutation SNP C C T TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 1 9784136 9784136 C T SNP PIK3CD ENST00000536656 human ensembl 74_37 +1 known nonsense c.2776 p.R926* 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CD HGNC ENSG00000171608 189 0 0 142 102 41.8033 PHYH 0 genome.wustl.edu 37 10 13340203 13340203 + Missense_Mutation SNP G G A TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 10 13340203 13340203 G A SNP PHYH ENST00000263038 human ensembl 74_37 -1 known missense c.118 p.H40Y 0.000 NULL pfam_Phytyl_CoA_dOase - no_errors PHYH HGNC ENSG00000107537 55 0 0 31 2 6.06061 ANKRD22 0 genome.wustl.edu 37 10 90591731 90591731 + Missense_Mutation SNP A A C TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 10 90591731 90591731 A C SNP ANKRD22 ENST00000371930 human ensembl 74_37 -1 known missense c.74 p.V25G 0.023 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD22 HGNC ENSG00000152766 407 1 0.245098 184 90 32.8467 CXCR5 0 genome.wustl.edu 37 11 118765361 118765361 + Missense_Mutation SNP A A T TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 11 118765361 118765361 A T SNP CXCR5 ENST00000292174 human ensembl 74_37 +1 known missense c.1108 p.T370S 0.996 prints_Chemokine_CXCR5 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR5,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR4,prints_ATII_rcpt - no_errors CXCR5 HGNC ENSG00000160683 48 0 0 58 18 23.6842 MRGPRX2 0 genome.wustl.edu 37 11 19077306 19077306 + Missense_Mutation SNP C C A TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 11 19077306 19077306 C A SNP MRGPRX2 ENST00000329773 human ensembl 74_37 -1 known missense c.644 p.G215V 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX2 HGNC ENSG00000183695 54 0 0 62 19 23.4568 DAGLA 0 genome.wustl.edu 37 11 61504739 61504739 + Missense_Mutation SNP G G A TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 11 61504739 61504739 G A SNP DAGLA ENST00000257215 human ensembl 74_37 +1 known missense c.1457 p.R486H 1.000 pfam_Lipase_3 pfam_Lipase_3 - no_errors DAGLA HGNC ENSG00000134780 294 0 0 252 119 32.0755 MALAT1 0 genome.wustl.edu 37 11 65268685 65268685 + RNA SNP A A G TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 11 65268685 65268685 A G SNP MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MALAT1 HGNC ENSG00000251562 45 0 0 22 19 46.3415 SIPA1 0 genome.wustl.edu 37 11 65413832 65413832 + Silent SNP G G A TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 11 65413832 65413832 G A SNP SIPA1 ENST00000394224 human ensembl 74_37 +1 known silent c.1404 p.T468 0.093 pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1 HGNC ENSG00000213445 73 0 0 42 48 53.3333 GAB2 0 genome.wustl.edu 37 11 77937657 77937657 + Missense_Mutation SNP C C G TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 11 77937657 77937657 C G SNP GAB2 ENST00000361507 human ensembl 74_37 -1 known missense c.1061 p.R354P 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB2 HGNC ENSG00000033327 100 0 0 66 47 41.5929 ULK1 0 genome.wustl.edu 37 12 132403762 132403762 + Missense_Mutation SNP G G C TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 12 132403762 132403762 G C SNP ULK1 ENST00000321867 human ensembl 74_37 +1 known missense c.2517 p.E839D 1.000 pfam_Ser/Thr_kinase_C,pirsf_Ser/Thr_kin_STPK_Ulk-1/2 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK1 HGNC ENSG00000177169 25 0 0 43 15 25.8621 CD163 0 genome.wustl.edu 37 12 7635248 7635248 + Missense_Mutation SNP G G A TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 12 7635248 7635248 G A SNP CD163 ENST00000359156 human ensembl 74_37 -1 known missense c.3238 p.R1080W 0.036 NULL pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR - no_errors CD163 HGNC ENSG00000177575 203 2 0.97561 158 185 53.9359 ZNF705A 0 genome.wustl.edu 37 12 8329955 8329955 + Missense_Mutation SNP C C G TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 12 8329955 8329955 C G SNP ZNF705A ENST00000359286 human ensembl 74_37 +1 known missense c.679 p.P227A 0.951 pfscan_Znf_C2H2 pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF705A HGNC ENSG00000196946 70 0 0 87 22 20.1835 CCER1 0 genome.wustl.edu 37 12 91347821 91347821 + Silent SNP G G A TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 12 91347821 91347821 G A SNP CCER1 ENST00000358859 human ensembl 74_37 -1 known silent c.699 p.N233 0.000 NULL NULL - no_errors CCER1 HGNC ENSG00000197651 338 0 0 183 222 54.8148 KLRG1 0 genome.wustl.edu 37 12 9162024 9162024 + Missense_Mutation SNP T T A TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 12 9162024 9162024 T A SNP KLRG1 ENST00000266551 human ensembl 74_37 +1 known missense c.461 p.I154N 0.951 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors KLRG1 HGNC ENSG00000139187 48 0 0 64 26 28.8889 RB1 0 genome.wustl.edu 37 13 48941648 48941648 + Nonsense_Mutation SNP C C T TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 13 48941648 48941648 C T SNP RB1 ENST00000267163 human ensembl 74_37 +1 known nonsense c.958 p.R320* 1.000 NULL pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 52 0 0 5 82 94.2529 LOC101930578 0 genome.wustl.edu 37 13 52864001 52864001 + RNA SNP A A G TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 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 17 0 0 45 5 10 AHNAK2 0 genome.wustl.edu 37 14 105412294 105412294 + Missense_Mutation SNP A A G TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 14 105412294 105412294 A G SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.9494 p.L3165S 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 270 2 0.735294 51 7 12.069 OR4K2 0 genome.wustl.edu 37 14 20344654 20344654 + Missense_Mutation SNP C C A TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 14 20344654 20344654 C A SNP OR4K2 ENST00000298642 human ensembl 74_37 +1 known missense c.228 p.F76L 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K2 HGNC ENSG00000165762 218 0 0 179 43 19.3694 OR4K1 0 genome.wustl.edu 37 14 20404344 20404344 + Silent SNP G G A TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 14 20404344 20404344 G A SNP OR4K1 ENST00000285600 human ensembl 74_37 +1 known silent c.519 p.E173 0.889 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K1 HGNC ENSG00000155249 110 0 0 113 16 12.4031 PSMA3 0 genome.wustl.edu 37 14 58724709 58724709 + Missense_Mutation SNP G G A TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 14 58724709 58724709 G A SNP PSMA3 ENST00000216455 human ensembl 74_37 +1 known missense c.397 p.G133S 1.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N - no_errors PSMA3 HGNC ENSG00000100567 64 0 0 42 20 32.2581 CYP11A1 0 genome.wustl.edu 37 15 74637521 74637521 + Silent SNP G G T TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 15 74637521 74637521 G T SNP CYP11A1 ENST00000268053 human ensembl 74_37 -1 known silent c.489 p.A163 0.026 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_mitochondrial,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP11A1 HGNC ENSG00000140459 104 0 0 18 84 82.3529 DNAH9 0 genome.wustl.edu 37 17 11648301 11648301 + Missense_Mutation SNP C C T TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 17 11648301 11648301 C T SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.6299 p.A2100V 1.000 superfamily_P-loop_NTPase 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 DNAH9 HGNC ENSG00000007174 64 0 0 33 37 52.8571 RNF112 0 genome.wustl.edu 37 17 19314763 19314763 + Silent SNP G G A TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 17 19314763 19314763 G A SNP RNF112 ENST00000461366 human ensembl 74_37 +1 novel silent c.42 p.R14 1.000 NULL pfam_Guanylate-bd_N,superfamily_P-loop_NTPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF112 HGNC ENSG00000128482 19 0 0 38 5 11.6279 UBBP4 0 genome.wustl.edu 37 17 21730916 21730916 + Missense_Mutation SNP G G T TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 17 21730916 21730916 G T SNP UBBP4 ENST00000578713 human ensembl 74_37 +1 putative missense c.218 p.R73L 1.000 pfam_Ubiquitin_dom,pfscan_Ubiquitin_supergroup pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors UBBP4 HGNC ENSG00000263563 58 0 0 98 6 5.76923 CLUH 0 genome.wustl.edu 37 17 2597254 2597254 + Missense_Mutation SNP C C A TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 17 2597254 2597254 C A SNP CLUH ENST00000435359 human ensembl 74_37 -1 known missense c.3054 p.E1018D 1.000 NULL superfamily_GSKIP_dom - no_errors CLUH HGNC ENSG00000132361 52 0 0 48 7 12.7273 SLC6A4 0 genome.wustl.edu 37 17 28538390 28538390 + Silent SNP C C T TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 17 28538390 28538390 C T SNP SLC6A4 ENST00000261707 human ensembl 74_37 -1 known silent c.1257 p.A419 0.531 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfam_Na/ntran_symport_serotonin_N,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_serotonin_N - no_errors SLC6A4 HGNC ENSG00000108576 48 0 0 51 15 22.7273 MYO1D 0 genome.wustl.edu 37 17 30986445 30986445 + RNA SNP A A C TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 17 30986445 30986445 A C SNP MYO1D ENST00000581059 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MYO1D HGNC ENSG00000176658 28 0 0 24 10 29.4118 SLFN12L 0 genome.wustl.edu 37 17 33806364 33806364 + Silent SNP G G A TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 17 33806364 33806364 G A SNP SLFN12L ENST00000449046 human ensembl 74_37 -1 known silent c.958 p.L320 0.004 pfam_ATPase_AAA-4 pfam_ATPase_AAA-4 - no_errors SLFN12L HGNC ENSG00000205045 9 0 0 7 6 46.1538 CDC27 0 genome.wustl.edu 37 17 45234725 45234725 + Silent SNP T T C TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 17 45234725 45234725 T C SNP CDC27 ENST00000531206 human ensembl 74_37 -1 known silent c.501 p.T167 0.999 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CDC27 HGNC ENSG00000004897 72 0 0 63 10 13.6986 TP53 0 genome.wustl.edu 37 17 7577082 7577082 + Missense_Mutation SNP C C T TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 17 7577082 7577082 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.856 p.E286K 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 67 0 0 7 49 87.5 SETBP1 0 genome.wustl.edu 37 18 42532899 42532899 + Silent SNP G G A TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 18 42532899 42532899 G A SNP SETBP1 ENST00000282030 human ensembl 74_37 +1 known silent c.3594 p.P1198 0.000 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 114 0 0 83 42 33.6 RAB27B 0 genome.wustl.edu 37 18 52555243 52555243 + Missense_Mutation SNP G G T TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 18 52555243 52555243 G T SNP RAB27B ENST00000262094 human ensembl 74_37 +1 known missense c.361 p.A121S 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB27B HGNC ENSG00000041353 127 0 0 115 45 28.125 LAMA1 0 genome.wustl.edu 37 18 7026103 7026103 + Silent SNP C C T TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 18 7026103 7026103 C T SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known silent c.2277 p.A759 0.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 16 0 0 3 25 89.2857 ZNF253 0 genome.wustl.edu 37 19 20003002 20003002 + Nonsense_Mutation SNP G G T TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 19 20003002 20003002 G T SNP ZNF253 ENST00000589717 human ensembl 74_37 +1 known nonsense c.946 p.E316* 0.552 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF253 HGNC ENSG00000256771 43 0 0 57 14 19.7183 ZNF98 0 genome.wustl.edu 37 19 22574985 22574985 + Missense_Mutation SNP T T A TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 19 22574985 22574985 T A SNP ZNF98 ENST00000357774 human ensembl 74_37 -1 known missense c.1052 p.K351I 0.253 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF98 HGNC ENSG00000197360 35 0 0 4 28 87.5 ZNF726 0 genome.wustl.edu 37 19 24115353 24115353 + Silent SNP T T C TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 19 24115353 24115353 T C SNP ZNF726 ENST00000322487 human ensembl 74_37 +1 known silent c.435 p.S145 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF726 HGNC ENSG00000213967 34 0 0 44 16 26.6667 SLC7A10 0 genome.wustl.edu 37 19 33706780 33706780 + Missense_Mutation SNP C C G TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 19 33706780 33706780 C G SNP SLC7A10 ENST00000253188 human ensembl 74_37 -1 known missense c.251 p.G84A 1.000 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A10 HGNC ENSG00000130876 18 0 0 36 12 25 KLK1 0 genome.wustl.edu 37 19 51322541 51322541 + Missense_Mutation SNP A A T TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 19 51322541 51322541 A T SNP KLK1 ENST00000301420 human ensembl 74_37 -1 known missense c.698 p.V233D 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors KLK1 HGNC ENSG00000167748 62 0 0 139 22 13.6646 MZF1 0 genome.wustl.edu 37 19 59080638 59080638 + Nonstop_Mutation SNP A A C TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 19 59080638 59080638 A C SNP MZF1 ENST00000594108 human ensembl 74_37 -1 putative nonstop c.778 p.*260G 0.192 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN - no_errors MZF1 HGNC ENSG00000099326 77 0 0 119 53 30.814 VAV1 0 genome.wustl.edu 37 19 6828175 6828175 + Missense_Mutation SNP T T A TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 19 6828175 6828175 T A SNP VAV1 ENST00000602142 human ensembl 74_37 +1 known missense c.1016 p.L339H 0.989 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH3_domain,prints_SH2,prints_SM22_calponin - no_errors VAV1 HGNC ENSG00000141968 53 0 0 50 38 43.1818 PNPLA6 0 genome.wustl.edu 37 19 7623881 7623881 + Silent SNP A A G TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 19 7623881 7623881 A G SNP PNPLA6 ENST00000414982 human ensembl 74_37 +1 known silent c.3573 p.V1191 0.995 superfamily_Acyl_Trfase/lysoPLipase pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA6 HGNC ENSG00000032444 47 0 0 64 44 40.7407 AFF3 0 genome.wustl.edu 37 2 100623465 100623465 + Missense_Mutation SNP G G A TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 2 100623465 100623465 G A SNP AFF3 ENST00000356421 human ensembl 74_37 -1 known missense c.577 p.L193F 0.997 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC ENSG00000144218 46 0 0 36 41 53.2468 CNTNAP5 0 genome.wustl.edu 37 2 125671839 125671839 + Missense_Mutation SNP G G A TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 2 125671839 125671839 G A SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known missense c.3895 p.E1299K 1.000 NULL pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 56 0 0 35 12 25.5319 CACNB4 0 genome.wustl.edu 37 2 152737347 152737347 + Silent SNP G G A TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 2 152737347 152737347 G A SNP CACNB4 ENST00000539935 human ensembl 74_37 -1 known silent c.357 p.S119 1.000 superfamily_SH3_domain,pfscan_SH3_domain pfam_GK/Ca_channel_bsu,pfam_VDCC_L_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_SH3_domain,prints_VDCC_L_bsu - no_errors CACNB4 HGNC ENSG00000182389 28 0 0 19 7 26.9231 KANSL1L 0 genome.wustl.edu 37 2 211018370 211018370 + Missense_Mutation SNP A A T TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 2 211018370 211018370 A T SNP KANSL1L ENST00000281772 human ensembl 74_37 -1 known missense c.937 p.F313I 1.000 NULL NULL - no_errors KANSL1L HGNC ENSG00000144445 120 0 0 85 38 30.8943 DYNLRB1 0 genome.wustl.edu 37 20 33104255 33104255 + RNA SNP C C A TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 20 33104255 33104255 C A SNP DYNLRB1 ENST00000480759 human ensembl 74_37 +1 known rna NULL NULL 0.017 - - - no_errors DYNLRB1 HGNC ENSG00000125971 230 0 0 194 116 37.4194 CDC25B 0 genome.wustl.edu 37 20 3777323 3777323 + Missense_Mutation SNP T T G TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 20 3777323 3777323 T G SNP CDC25B ENST00000245960 human ensembl 74_37 +1 known missense c.145 p.S49A 0.998 NULL pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase - no_errors CDC25B HGNC ENSG00000101224 10 0 0 30 3 9.09091 RIMS4 0 genome.wustl.edu 37 20 43386771 43386771 + Silent SNP C C T TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 20 43386771 43386771 C T SNP RIMS4 ENST00000541604 human ensembl 74_37 -1 known silent c.294 p.L98 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RIMS4 HGNC ENSG00000101098 53 0 0 46 33 41.7722 SLC17A9 0 genome.wustl.edu 37 20 61594078 61594078 + Silent SNP C C T TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 20 61594078 61594078 C T SNP SLC17A9 ENST00000370351 human ensembl 74_37 +1 known silent c.600 p.Y200 0.993 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A9 HGNC ENSG00000101194 200 0 0 244 69 22.0447 MICAL3 0 genome.wustl.edu 37 22 18389499 18389499 + Missense_Mutation SNP C C T TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 22 18389499 18389499 C T SNP MICAL3 ENST00000441493 human ensembl 74_37 -1 known missense c.80 p.G27E 1.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL3 HGNC ENSG00000243156 166 0 0 83 90 52.0231 POM121L9P 0 genome.wustl.edu 37 22 24659809 24659809 + RNA SNP G G A TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 22 24659809 24659809 G A SNP POM121L9P ENST00000414583 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors POM121L9P HGNC ENSG00000128262 8 0 0 9 3 25 TPST2 0 genome.wustl.edu 37 22 26932452 26932452 + Silent SNP C C T TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 22 26932452 26932452 C T SNP TPST2 ENST00000338754 human ensembl 74_37 -1 known silent c.843 p.K281 1.000 superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors TPST2 HGNC ENSG00000128294 23 0 0 23 16 41.0256 SPSB4 0 genome.wustl.edu 37 3 140785640 140785640 + Missense_Mutation SNP C C A TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 3 140785640 140785640 C A SNP SPSB4 ENST00000310546 human ensembl 74_37 +1 known missense c.694 p.P232T 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_SOCS_C,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_SOCS_C,pfscan_B30.2/SPRY,pfscan_SOCS_C - no_errors SPSB4 HGNC ENSG00000175093 31 0 0 7 33 82.5 SCN10A 0 genome.wustl.edu 37 3 38768533 38768533 + Missense_Mutation SNP A A C TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 3 38768533 38768533 A C SNP SCN10A ENST00000449082 human ensembl 74_37 -1 known missense c.2651 p.L884R 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 97 0 0 98 39 28.4672 IL17RB 0 genome.wustl.edu 37 3 53880617 53880617 + Missense_Mutation SNP T T C TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 3 53880617 53880617 T C SNP IL17RB ENST00000288167 human ensembl 74_37 +1 known missense c.2 p.M1T 0.367 NULL pfam_SEFIR - no_errors IL17RB HGNC ENSG00000056736 11 0 0 16 9 36 ANKRD50 0 genome.wustl.edu 37 4 125593582 125593582 + Missense_Mutation SNP G G T TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 4 125593582 125593582 G T SNP ANKRD50 ENST00000504087 human ensembl 74_37 -1 known missense c.850 p.L284I 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD50 HGNC ENSG00000151458 32 0 0 3 12 80 LARS 0 genome.wustl.edu 37 5 145543919 145543919 + Missense_Mutation SNP T T A TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 5 145543919 145543919 T A SNP LARS ENST00000394434 human ensembl 74_37 -1 known missense c.548 p.Y183F 1.000 tigrfam_Leu-tRNA-synth_Ia_arc/euk pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Cys-tRNA/MSH_ligase,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Leu-tRNA-synth_Ia_arc/euk - no_errors LARS HGNC ENSG00000133706 217 0 0 38 49 56.3218 TLX3 0 genome.wustl.edu 37 5 170736747 170736747 + Silent SNP C C A TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 5 170736747 170736747 C A SNP TLX3 ENST00000296921 human ensembl 74_37 +1 known silent c.378 p.P126 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors TLX3 HGNC ENSG00000164438 26 0 0 47 4 7.84314 TBC1D9B 0 genome.wustl.edu 37 5 179292392 179292392 + RNA SNP G G A TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 5 179292392 179292392 G A SNP TBC1D9B ENST00000518085 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors TBC1D9B HGNC ENSG00000197226 62 0 0 29 13 30.9524 RNF130 0 genome.wustl.edu 37 5 179382632 179382632 + RNA SNP C C T TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 5 179382632 179382632 C T SNP RNF130 ENST00000520564 human ensembl 74_37 -1 putative rna NULL NULL 1.000 - - - no_errors RNF130 HGNC ENSG00000113269 56 0 0 7 16 69.5652 CDH12 0 genome.wustl.edu 37 5 21755828 21755828 + Missense_Mutation SNP G G A TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 5 21755828 21755828 G A SNP CDH12 ENST00000382254 human ensembl 74_37 -1 known missense c.1757 p.T586I 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH12 HGNC ENSG00000154162 88 0 0 147 34 18.7845 NPR3 0 genome.wustl.edu 37 5 32712408 32712408 + Missense_Mutation SNP C C T TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 5 32712408 32712408 C T SNP NPR3 ENST00000265074 human ensembl 74_37 +1 known missense c.526 p.R176C 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_Ntpep_rcpt - no_errors NPR3 HGNC ENSG00000113389 113 0 0 345 74 17.6611 DAB2 0 genome.wustl.edu 37 5 39377141 39377141 + Missense_Mutation SNP G G A TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 5 39377141 39377141 G A SNP DAB2 ENST00000320816 human ensembl 74_37 -1 known missense c.1748 p.A583V 0.002 NULL pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors DAB2 HGNC ENSG00000153071 105 0 0 375 93 19.8718 HCN1 0 genome.wustl.edu 37 5 45695964 45695964 + Missense_Mutation SNP C C T TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 5 45695964 45695964 C T SNP HCN1 ENST00000303230 human ensembl 74_37 -1 known missense c.232 p.A78T 0.995 NULL pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN1 HGNC ENSG00000164588 15 0 0 19 80 80.8081 MAP1B 0 genome.wustl.edu 37 5 71489953 71489953 + Silent SNP C C T TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 5 71489953 71489953 C T SNP MAP1B ENST00000296755 human ensembl 74_37 +1 known silent c.771 p.L257 1.000 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 121 0 0 55 20 26.6667 HIST1H4F 0 genome.wustl.edu 37 6 26240797 26240797 + Silent SNP G G T TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 6 26240797 26240797 G T SNP HIST1H4F ENST00000377745 human ensembl 74_37 +1 known silent c.144 p.S48 0.668 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4F HGNC ENSG00000198327 51 0 0 73 25 25.5102 SCAND3 0 genome.wustl.edu 37 6 28539899 28539899 + Missense_Mutation SNP T T C TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 6 28539899 28539899 T C SNP SCAND3 ENST00000452236 human ensembl 74_37 -1 known missense c.3767 p.D1256G 0.973 pfam_HATC_dom_C,superfamily_RNaseH-like_dom pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC_dom_C,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN - no_errors SCAND3 HGNC ENSG00000232040 63 0 0 49 34 40.9639 SKIV2L 0 genome.wustl.edu 37 6 31933769 31933769 + Silent SNP A A G TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 6 31933769 31933769 A G SNP SKIV2L ENST00000375394 human ensembl 74_37 +1 known silent c.2181 p.A727 0.587 superfamily_P-loop_NTPase,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_C pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SKIV2L HGNC ENSG00000204351 24 0 0 21 10 32.2581 FAM50B 0 genome.wustl.edu 37 6 3850236 3850236 + Missense_Mutation SNP C C T TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 6 3850236 3850236 C T SNP FAM50B ENST00000380272 human ensembl 74_37 +1 novel missense c.191 p.T64M 0.991 NULL pfam_XAP5 - no_errors FAM50B HGNC ENSG00000145945 28 0 0 36 31 46.2687 HMGCLL1 0 genome.wustl.edu 37 6 55381357 55381357 + Silent SNP T T C TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 6 55381357 55381357 T C SNP HMGCLL1 ENST00000398661 human ensembl 74_37 -1 known silent c.432 p.P144 0.987 pfam_PYR_CT,pfscan_PYR_CT pfam_PYR_CT,pfscan_PYR_CT - no_errors HMGCLL1 HGNC ENSG00000146151 84 0 0 76 12 13.6364 RIMS1 0 genome.wustl.edu 37 6 72984124 72984124 + Silent SNP G G A TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 6 72984124 72984124 G A SNP RIMS1 ENST00000521978 human ensembl 74_37 +1 known silent c.3471 p.P1157 1.000 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 34 0 0 39 22 36.0656 GJA10 0 genome.wustl.edu 37 6 90604457 90604457 + Missense_Mutation SNP G G T TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 6 90604457 90604457 G T SNP GJA10 ENST00000369352 human ensembl 74_37 +1 known missense c.270 p.L90F 0.999 pfam_Connexin_N,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJA10 HGNC ENSG00000135355 75 0 0 62 15 19.4805 GRM8 0 genome.wustl.edu 37 7 126173853 126173853 + Missense_Mutation SNP G G A TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 7 126173853 126173853 G A SNP GRM8 ENST00000339582 human ensembl 74_37 -1 known missense c.1583 p.T528M 0.864 pfam_GPCR_3_9-Cys_dom pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C - no_errors GRM8 HGNC ENSG00000179603 78 0 0 91 34 27.2 SLC13A4 0 genome.wustl.edu 37 7 135366192 135366192 + RNA SNP C C G TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 7 135366192 135366192 C G SNP SLC13A4 ENST00000491630 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SLC13A4 HGNC ENSG00000164707 23 0 0 13 5 27.7778 ATG9B 0 genome.wustl.edu 37 7 150714339 150714339 + Silent SNP A A G TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 7 150714339 150714339 A G SNP ATG9B ENST00000377974 human ensembl 74_37 -1 known silent c.2073 p.T691 0.587 NULL pfam_Autophagy-rel_prot_9 - no_errors ATG9B HGNC ENSG00000181652 54 0 0 38 19 33.3333 DPP6 0 genome.wustl.edu 37 7 154237681 154237681 + Silent SNP T T A TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 7 154237681 154237681 T A SNP DPP6 ENST00000377770 human ensembl 74_37 +1 known silent c.522 p.T174 0.055 NULL pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40 - no_errors DPP6 HGNC ENSG00000130226 19 0 0 12 8 40 IKZF1 0 genome.wustl.edu 37 7 50450356 50450356 + Silent SNP C C T TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 7 50450356 50450356 C T SNP IKZF1 ENST00000331340 human ensembl 74_37 +1 known silent c.540 p.Y180 0.967 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF1 HGNC ENSG00000185811 29 0 0 20 20 50 PRKDC 0 genome.wustl.edu 37 8 48772214 48772214 + Silent SNP G G A TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 8 48772214 48772214 G A SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known silent c.6162 p.S2054 0.997 pfam_NUC194,superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 141 0 0 26 89 77.3913 TNC 0 genome.wustl.edu 37 9 117845084 117845084 + Silent SNP A A G TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 9 117845084 117845084 A G SNP TNC ENST00000350763 human ensembl 74_37 -1 known silent c.2134 p.L712 0.940 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNC HGNC ENSG00000041982 42 0 0 41 9 18 FAM73B 0 genome.wustl.edu 37 9 131830597 131830597 + Missense_Mutation SNP A A T TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 9 131830597 131830597 A T SNP FAM73B ENST00000358369 human ensembl 74_37 +1 known missense c.1390 p.S464C 1.000 pfam_DUF2217 pfam_DUF2217 - no_errors FAM73B HGNC ENSG00000148343 47 0 0 53 5 8.62069 LAMC3 0 genome.wustl.edu 37 9 133914363 133914363 + Silent SNP C C T TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 9 133914363 133914363 C T SNP LAMC3 ENST00000361069 human ensembl 74_37 +1 known silent c.1089 p.H363 1.000 pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC3 HGNC ENSG00000050555 76 0 0 85 34 28.5714 PRRC2B 0 genome.wustl.edu 37 9 134322501 134322501 + Missense_Mutation SNP G G C TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 9 134322501 134322501 G C SNP PRRC2B ENST00000357304 human ensembl 74_37 +1 known missense c.885 p.Q295H 1.000 NULL pfam_BAT2_N - no_errors PRRC2B HGNC ENSG00000130723 61 0 0 40 15 27.2727 IRS4 0 genome.wustl.edu 37 X 107979402 107979402 + Missense_Mutation SNP G G A TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e X 107979402 107979402 G A SNP IRS4 ENST00000372129 human ensembl 74_37 -1 known missense c.173 p.T58M 0.043 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 89 0 0 58 45 43.6893 CPXCR1 0 genome.wustl.edu 37 X 88009104 88009104 + Missense_Mutation SNP G G A TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e X 88009104 88009104 G A SNP CPXCR1 ENST00000276127 human ensembl 74_37 +1 known missense c.689 p.R230H 0.000 NULL pfscan_Znf_C2H2 - no_errors CPXCR1 HGNC ENSG00000147183 39 0 0 4 24 85.7143 KCND3 0 genome.wustl.edu 37 1 112524444 112524445 + Frame_Shift_Ins INS - - G TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 1 112524444 112524445 - G INS KCND3 ENST00000315987 human ensembl 74_37 -1 known frame_shift_ins c.905_904 p.R302fs 1.000:1.000 pfam_Ion_trans_dom,prints_K_chnl,prints_K_chnl_volt-dep_Kv pfam_K_chnl_volt-dep_Kv4_C,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.3,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 - no_errors KCND3 HGNC ENSG00000171385 92 0 0 141 12 7.84314 MYO16 0 genome.wustl.edu 37 13 109518544 109518544 + Frame_Shift_Del DEL T T - TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 13 109518544 109518544 T - DEL MYO16 ENST00000356711 human ensembl 74_37 +1 known frame_shift_del c.1313 p.L439fs 0.833 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 77 0 0 149 33 18.1319 PRKD1 0 genome.wustl.edu 37 14 30103740 30103740 + Frame_Shift_Del DEL T T - TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 14 30103740 30103740 T - DEL PRKD1 ENST00000331968 human ensembl 74_37 -1 known frame_shift_del c.1198 p.T400fs 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKD1 HGNC ENSG00000184304 220 0 0 115 73 38.8298 SLC7A10 0 genome.wustl.edu 37 19 33706778 33706778 + Frame_Shift_Del DEL C C - TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 19 33706778 33706778 C - DEL SLC7A10 ENST00000253188 human ensembl 74_37 -1 known frame_shift_del c.253 p.V85fs 0.924 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A10 HGNC ENSG00000130876 18 0 0 39 12 23.5294 PTH2 0 genome.wustl.edu 37 19 49926531 49926533 + In_Frame_Del DEL CAG CAG - TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 19 49926531 49926533 CAG - DEL PTH2 ENST00000270631 human ensembl 74_37 -1 known in_frame_del c.66_64 p.L22in_frame_del 0.016:0.132:0.132 NULL NULL - no_errors PTH2 HGNC ENSG00000142538 25 0 0 88 5 5.37634 KCNQ2 0 genome.wustl.edu 37 20 62046425 62046441 + Frame_Shift_Del DEL GGCAGCCACGCCTCGGG GGCAGCCACGCCTCGGG - TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 GGCAGCCACGCCTCGGG GGCAGCCACGCCTCGGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 20 62046425 62046441 GGCAGCCACGCCTCGGG - DEL KCNQ2 ENST00000354587 human ensembl 74_37 -1 known frame_shift_del c.1272_1256 p.P419fs 1.000:1.000:0.893:0.635:0.694:0.716:0.707:0.730:0.728:0.667:0.995:0.998:0.949:1.000:1.000:1.000:1.000 NULL pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ2 HGNC ENSG00000075043 60 0 0 47 9 16.0714 CCDC170 0 genome.wustl.edu 37 6 151936585 151936585 + Frame_Shift_Del DEL C C - TCGA-BR-A4CR-01A-11D-A24D-08 TCGA-BR-A4CR-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6c2e6ade-14ed-45e9-bc73-dde1f69349ee 9ee683c7-c2ae-4b00-a340-e6d0daf7384e 6 151936585 151936585 C - DEL CCDC170 ENST00000367290 human ensembl 74_37 +1 known frame_shift_del c.1739 p.T580fs 1.000 superfamily_Prefoldin superfamily_Prefoldin,superfamily_Smac_DIABLO-like - no_errors CCDC170 HGNC ENSG00000120262 191 0 0 134 83 38.2488