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 CELSR2 0 genome.wustl.edu 37 1 109806868 109806868 + Missense_Mutation SNP C C A TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 1 109806868 109806868 C A SNP CELSR2 ENST00000271332 human ensembl 74_37 +1 known missense c.5170 p.Q1724K 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 81 0 0 53 3 5.35714 SCNN1D 0 genome.wustl.edu 37 1 1226757 1226757 + Missense_Mutation SNP G G A TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 1 1226757 1226757 G A SNP SCNN1D ENST00000379116 human ensembl 74_37 +1 known missense c.2176 p.G726S 0.004 tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1D HGNC ENSG00000162572 10 0 0 9 3 25 PDE4DIP 0 genome.wustl.edu 37 1 144922018 144922018 + Silent SNP T T C TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 1 144922018 144922018 T C SNP PDE4DIP ENST00000369356 human ensembl 74_37 -1 known silent c.1011 p.Q337 0.789 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 96 0 0 79 6 7.05882 ECM1 0 genome.wustl.edu 37 1 150483405 150483405 + Missense_Mutation SNP G G T TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 1 150483405 150483405 G T SNP ECM1 ENST00000369049 human ensembl 74_37 +1 known missense c.520 p.A174S 0.025 pfam_ECM1 pfam_ECM1,superfamily_Serum_albumin-like - no_errors ECM1 HGNC ENSG00000143369 108 0 0 59 13 18.0556 PIGR 0 genome.wustl.edu 37 1 207112623 207112623 + Nonsense_Mutation SNP T T A TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 1 207112623 207112623 T A SNP PIGR ENST00000356495 human ensembl 74_37 -1 known nonsense c.229 p.K77* 0.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PIGR HGNC ENSG00000162896 49 0 0 41 4 8.88889 LAMB3 0 genome.wustl.edu 37 1 209800260 209800260 + Missense_Mutation SNP G G T TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 1 209800260 209800260 G T SNP LAMB3 ENST00000356082 human ensembl 74_37 -1 known missense c.1549 p.R517S 0.990 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB3 HGNC ENSG00000196878 42 0 0 35 2 5.40541 UBXN11 0 genome.wustl.edu 37 1 26608885 26608885 + Missense_Mutation SNP C C T TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 1 26608885 26608885 C T SNP UBXN11 ENST00000374221 human ensembl 74_37 -1 known missense c.1468 p.G490S 0.000 NULL pfam_SEP_domain,superfamily_SEP_domain,pfscan_UBX - no_errors UBXN11 HGNC ENSG00000158062 60 0 0 47 8 14.5455 INPP5B 0 genome.wustl.edu 37 1 38339763 38339763 + Missense_Mutation SNP T T C TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 1 38339763 38339763 T C SNP INPP5B ENST00000373023 human ensembl 74_37 -1 known missense c.2093 p.Q698R 1.000 NULL pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors INPP5B HGNC ENSG00000204084 39 0 0 28 4 12.5 SZT2 0 genome.wustl.edu 37 1 43907245 43907245 + Missense_Mutation SNP C C T TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 1 43907245 43907245 C T SNP SZT2 ENST00000562955 human ensembl 74_37 +1 known missense c.7411 p.R2471C 0.986 NULL NULL - no_errors SZT2 HGNC ENSG00000198198 136 1 0.729927 103 16 13.4454 SZT2 0 genome.wustl.edu 37 1 43913551 43913551 + Nonsense_Mutation SNP C C T TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 1 43913551 43913551 C T SNP SZT2 ENST00000562955 human ensembl 74_37 +1 known nonsense c.9301 p.R3101* 1.000 NULL NULL - no_errors SZT2 HGNC ENSG00000198198 111 0 0 99 7 6.60377 HSD17B7P2 0 genome.wustl.edu 37 10 38645343 38645343 + RNA SNP C C T TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 10 38645343 38645343 C T SNP HSD17B7P2 ENST00000494540 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors HSD17B7P2 HGNC ENSG00000099251 14 0 0 7 4 36.3636 ALOX5 0 genome.wustl.edu 37 10 45891347 45891347 + Nonsense_Mutation SNP C C T TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 10 45891347 45891347 C T SNP ALOX5 ENST00000374391 human ensembl 74_37 +1 known nonsense c.394 p.R132* 0.999 superfamily_LipOase_C pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C,pfscan_PLAT/LH2_dom - no_errors ALOX5 HGNC ENSG00000012779 53 0 0 39 4 9.30233 OR52N2 0 genome.wustl.edu 37 11 5841963 5841963 + Missense_Mutation SNP G G A TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 11 5841963 5841963 G A SNP OR52N2 ENST00000317037 human ensembl 74_37 +1 known missense c.398 p.R133H 0.001 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,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 OR52N2 HGNC ENSG00000180988 74 0 0 54 10 15.625 RIMBP2 0 genome.wustl.edu 37 12 130935771 130935771 + Missense_Mutation SNP G G C TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 12 130935771 130935771 G C SNP RIMBP2 ENST00000261655 human ensembl 74_37 -1 known missense c.422 p.S141C 0.855 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain - no_errors RIMBP2 HGNC ENSG00000060709 107 0 0 60 8 11.7647 SOX5 0 genome.wustl.edu 37 12 23687217 23687217 + Missense_Mutation SNP T T A TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 12 23687217 23687217 T A SNP SOX5 ENST00000451604 human ensembl 74_37 -1 known missense c.2228 p.E743V 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX5 HGNC ENSG00000134532 176 0 0 108 16 12.9032 KCNA1 0 genome.wustl.edu 37 12 5021648 5021648 + Silent SNP G G A TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 12 5021648 5021648 G A SNP KCNA1 ENST00000382545 human ensembl 74_37 +1 known silent c.1104 p.V368 0.988 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl 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,prints_K_chnl_volt-dep_Kv1.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3 - no_errors KCNA1 HGNC ENSG00000111262 200 0 0 126 14 10 WBP4 0 genome.wustl.edu 37 13 41657016 41657016 + Missense_Mutation SNP C C A TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 13 41657016 41657016 C A SNP WBP4 ENST00000379487 human ensembl 74_37 +1 known missense c.1097 p.S366Y 1.000 NULL pfam_WW_dom,pfam_Znf_U1-C,superfamily_WW_dom,smart_Znf_U1,smart_WW_dom,pfscan_WW_dom,pfscan_Znf_C2H2_matrin - no_errors WBP4 HGNC ENSG00000120688 41 0 0 25 3 10.7143 CEBPE 0 genome.wustl.edu 37 14 23586911 23586911 + Missense_Mutation SNP G G A TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 14 23586911 23586911 G A SNP CEBPE ENST00000206513 human ensembl 74_37 -1 known missense c.631 p.R211W 1.000 pfam_bZIP,smart_bZIP,pirsf_CCAAT/enhancer-binding,pfscan_bZIP pfam_bZIP,smart_bZIP,pirsf_CCAAT/enhancer-binding,pfscan_bZIP - no_errors CEBPE HGNC ENSG00000092067 99 0 0 55 4 6.77966 CMTM5 0 genome.wustl.edu 37 14 23847888 23847888 + Missense_Mutation SNP A A T TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 14 23847888 23847888 A T SNP CMTM5 ENST00000339180 human ensembl 74_37 +1 known missense c.290 p.H97L 0.000 NULL NULL - no_errors CMTM5 HGNC ENSG00000166091 42 0 0 31 2 6.06061 FANCM 0 genome.wustl.edu 37 14 45650889 45650889 + Missense_Mutation SNP G G A TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 14 45650889 45650889 G A SNP FANCM ENST00000267430 human ensembl 74_37 +1 known missense c.4367 p.R1456H 0.974 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors FANCM HGNC ENSG00000187790 20 0 0 19 3 13.6364 SYNE2 0 genome.wustl.edu 37 14 64457685 64457685 + Missense_Mutation SNP C C T TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 14 64457685 64457685 C T SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.2498 p.A833V 0.000 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 46 0 0 26 5 16.129 GALNT16 0 genome.wustl.edu 37 14 69814660 69814660 + Missense_Mutation SNP A A G TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 14 69814660 69814660 A G SNP GALNT16 ENST00000337827 human ensembl 74_37 +1 known missense c.1480 p.M494V 0.076 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT16 HGNC ENSG00000100626 99 0 0 56 6 9.67742 NEK9 0 genome.wustl.edu 37 14 75570609 75570609 + Missense_Mutation SNP C C T TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 14 75570609 75570609 C T SNP NEK9 ENST00000238616 human ensembl 74_37 -1 known missense c.1667 p.C556Y 1.000 superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Prot_kinase_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_RCC1/BLIP-II,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK9 HGNC ENSG00000119638 111 0 0 86 8 8.51064 SAMD15 0 genome.wustl.edu 37 14 77845346 77845346 + Missense_Mutation SNP G G A TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 14 77845346 77845346 G A SNP SAMD15 ENST00000216471 human ensembl 74_37 +1 known missense c.1585 p.E529K 0.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD15 HGNC ENSG00000100583 55 0 0 37 5 11.9048 ITFG1 0 genome.wustl.edu 37 16 47345222 47345222 + Silent SNP G G T TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 16 47345222 47345222 G T SNP ITFG1 ENST00000320640 human ensembl 74_37 -1 known silent c.999 p.T333 0.993 NULL NULL - no_errors ITFG1 HGNC ENSG00000129636 52 0 0 34 2 5.55556 ULK2 0 genome.wustl.edu 37 17 19748626 19748626 + Silent SNP C C T TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 17 19748626 19748626 C T SNP ULK2 ENST00000361658 human ensembl 74_37 -1 known silent c.534 p.P178 0.216 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,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser/Thr_kinase_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,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 ULK2 HGNC ENSG00000083290 104 0 0 75 7 8.53659 KRTAP4-9 0 genome.wustl.edu 37 17 39262083 39262083 + Missense_Mutation SNP A A C TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 17 39262083 39262083 A C SNP KRTAP4-9 ENST00000391415 human ensembl 74_37 +1 known missense c.443 p.N148T 0.000 NULL pfam_Keratin-assoc - no_errors KRTAP4-9 HGNC ENSG00000212722 36 0 0 23 3 11.5385 AXIN2 0 genome.wustl.edu 37 17 63537662 63537662 + Missense_Mutation SNP G G A TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 17 63537662 63537662 G A SNP AXIN2 ENST00000307078 human ensembl 74_37 -1 known missense c.970 p.P324S 1.000 NULL pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors AXIN2 HGNC ENSG00000168646 95 0 0 61 4 6.15385 ZNF532 0 genome.wustl.edu 37 18 56648785 56648785 + Missense_Mutation SNP C C T TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 18 56648785 56648785 C T SNP ZNF532 ENST00000336078 human ensembl 74_37 +1 known missense c.3347 p.P1116L 0.968 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF532 HGNC ENSG00000074657 61 0 0 33 2 5.71429 OR10H1 0 genome.wustl.edu 37 19 15918646 15918646 + Missense_Mutation SNP C C T TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 19 15918646 15918646 C T SNP OR10H1 ENST00000334920 human ensembl 74_37 -1 known missense c.202 p.V68I 0.000 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 OR10H1 HGNC ENSG00000186723 45 0 0 31 8 20.5128 POU2F2 0 genome.wustl.edu 37 19 42597998 42597998 + Missense_Mutation SNP C C A TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 19 42597998 42597998 C A SNP POU2F2 ENST00000342301 human ensembl 74_37 -1 known missense c.1181 p.S394I 1.000 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU,prints_TF_octamer - no_errors POU2F2 HGNC ENSG00000028277 291 0 0 191 18 8.61244 PNMAL2 0 genome.wustl.edu 37 19 46997652 46997652 + Missense_Mutation SNP G G C TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 19 46997652 46997652 G C SNP PNMAL2 ENST00000599531 human ensembl 74_37 -1 known missense c.1071 p.I357M 0.010 NULL NULL - no_errors PNMAL2 HGNC ENSG00000204851 111 0 0 79 9 10.2273 ZNF808 0 genome.wustl.edu 37 19 53057818 53057818 + Missense_Mutation SNP G G A TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 19 53057818 53057818 G A SNP ZNF808 ENST00000359798 human ensembl 74_37 +1 known missense c.1649 p.R550H 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF808 HGNC ENSG00000198482 178 0 0 107 11 9.32203 ZNF835 0 genome.wustl.edu 37 19 57175150 57175150 + Missense_Mutation SNP G G T TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 19 57175150 57175150 G T SNP ZNF835 ENST00000537055 human ensembl 74_37 -1 known missense c.1417 p.P473T 0.936 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF835 HGNC ENSG00000127903 175 0 0 126 11 8.0292 ZNF544 0 genome.wustl.edu 37 19 58774032 58774032 + Missense_Mutation SNP C C A TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 19 58774032 58774032 C A SNP ZNF544 ENST00000269829 human ensembl 74_37 +1 known missense c.2060 p.P687H 0.986 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 ZNF544 HGNC ENSG00000198131 278 0 0 181 22 10.8374 PSD4 0 genome.wustl.edu 37 2 113943470 113943470 + Silent SNP A A G TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 2 113943470 113943470 A G SNP PSD4 ENST00000245796 human ensembl 74_37 +1 known silent c.1266 p.G422 0.000 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD4 HGNC ENSG00000125637 10 0 0 8 5 38.4615 ITGA4 0 genome.wustl.edu 37 2 182322476 182322476 + Missense_Mutation SNP G G A TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 2 182322476 182322476 G A SNP ITGA4 ENST00000397033 human ensembl 74_37 +1 known missense c.95 p.R32H 0.010 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA4 HGNC ENSG00000115232 25 0 0 18 4 18.1818 DYTN 0 genome.wustl.edu 37 2 207527632 207527632 + Missense_Mutation SNP G G A TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 2 207527632 207527632 G A SNP DYTN ENST00000452335 human ensembl 74_37 -1 known missense c.1628 p.P543L 0.007 NULL pfam_EF-hand_dom_typ2,pfam_EF-hand_dom_typ1,pfam_Znf_ZZ,smart_Znf_ZZ,pfscan_Znf_ZZ - no_errors DYTN HGNC ENSG00000232125 191 1 0.520833 106 11 9.40171 VIL1 0 genome.wustl.edu 37 2 219290514 219290514 + Silent SNP C C G TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 2 219290514 219290514 C G SNP VIL1 ENST00000248444 human ensembl 74_37 +1 known silent c.327 p.G109 0.998 smart_Villin/Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors VIL1 HGNC ENSG00000127831 63 0 0 41 4 8.88889 BIRC6 0 genome.wustl.edu 37 2 32824836 32824836 + Missense_Mutation SNP T T A TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 2 32824836 32824836 T A SNP BIRC6 ENST00000421745 human ensembl 74_37 +1 known missense c.13861 p.Y4621N 1.000 pfam_UBQ-conjugat_E2,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 68 0 0 42 7 14.2857 POLR1A 0 genome.wustl.edu 37 2 86276114 86276114 + Nonsense_Mutation SNP G G A TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 2 86276114 86276114 G A SNP POLR1A ENST00000263857 human ensembl 74_37 -1 known nonsense c.2527 p.R843* 0.995 pfam_RNA_pol_Rpb1_4 pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N - no_errors POLR1A HGNC ENSG00000068654 43 0 0 34 5 12.8205 BPIFB4 0 genome.wustl.edu 37 20 31678530 31678530 + Silent SNP G G A TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 20 31678530 31678530 G A SNP BPIFB4 ENST00000375483 human ensembl 74_37 +1 known silent c.1068 p.G356 0.971 superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB4 HGNC ENSG00000186191 57 0 0 30 4 11.7647 DSCAM 0 genome.wustl.edu 37 21 42064772 42064772 + Missense_Mutation SNP C C T TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 21 42064772 42064772 C T SNP DSCAM ENST00000400454 human ensembl 74_37 -1 known missense c.472 p.V158I 1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 88 0 0 55 6 9.83607 POTEH 0 genome.wustl.edu 37 22 16287790 16287790 + Silent SNP G G A TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 22 16287790 16287790 G A SNP POTEH ENST00000343518 human ensembl 74_37 -1 known silent c.96 p.F32 0.002 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 POTEH HGNC ENSG00000198062 110 0 0 69 21 23.3333 UPB1 0 genome.wustl.edu 37 22 24896190 24896190 + Missense_Mutation SNP G G A TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 22 24896190 24896190 G A SNP UPB1 ENST00000326010 human ensembl 74_37 +1 known missense c.220 p.V74M 0.990 superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase - no_errors UPB1 HGNC ENSG00000100024 57 0 0 33 8 19.5122 PLCH1 0 genome.wustl.edu 37 3 155282805 155282805 + Missense_Mutation SNP G G A TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 3 155282805 155282805 G A SNP PLCH1 ENST00000340059 human ensembl 74_37 -1 known missense c.932 p.A311V 1.000 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC ENSG00000114805 105 0 0 58 8 12.1212 MUC4 0 genome.wustl.edu 37 3 195511273 195511273 + Missense_Mutation SNP G G A TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 3 195511273 195511273 G A SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.7178 p.A2393V 0.006 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 12 0 0 5 4 44.4444 CHL1 0 genome.wustl.edu 37 3 370003 370003 + Silent SNP C C T TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 3 370003 370003 C T SNP CHL1 ENST00000256509 human ensembl 74_37 +1 known silent c.351 p.I117 0.622 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CHL1 HGNC ENSG00000134121 101 0 0 65 6 8.4507 NOA1 0 genome.wustl.edu 37 4 57839516 57839516 + Missense_Mutation SNP C C T TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 4 57839516 57839516 C T SNP NOA1 ENST00000264230 human ensembl 74_37 -1 known missense c.1313 p.R438K 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors NOA1 HGNC ENSG00000084092 142 0 0 73 12 14.1176 UTP15 0 genome.wustl.edu 37 5 72875773 72875773 + Missense_Mutation SNP G G A TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 5 72875773 72875773 G A SNP UTP15 ENST00000296792 human ensembl 74_37 +1 known missense c.1411 p.E471K 1.000 pfam_U3_snoRNA-assocProt_15_C pfam_U3_snoRNA-assocProt_15_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors UTP15 HGNC ENSG00000164338 39 0 0 25 3 10.7143 FNDC1 0 genome.wustl.edu 37 6 159653822 159653822 + Missense_Mutation SNP C C T TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 6 159653822 159653822 C T SNP FNDC1 ENST00000297267 human ensembl 74_37 +1 known missense c.2278 p.R760W 0.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC1 HGNC ENSG00000164694 55 0 0 37 3 7.5 DST 0 genome.wustl.edu 37 6 56535574 56535574 + Missense_Mutation SNP T T C TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 6 56535574 56535574 T C SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.980 p.E327G 1.000 superfamily_CH-domain,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 24 0 0 7 4 36.3636 TRIM56 0 genome.wustl.edu 37 7 100732852 100732852 + Silent SNP G G A TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 7 100732852 100732852 G A SNP TRIM56 ENST00000306085 human ensembl 74_37 +1 known silent c.2259 p.P753 0.108 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_CheY-like_superfamily,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM56 HGNC ENSG00000169871 20 0 0 19 3 13.6364 IMMP2L 0 genome.wustl.edu 37 7 110303717 110303717 + Missense_Mutation SNP G G T TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 7 110303717 110303717 G T SNP IMMP2L ENST00000331762 human ensembl 74_37 -1 known missense c.469 p.Q157K 1.000 superfamily_Peptidase_S24_S26A/B/C pfam_Peptidase_S24_S26,superfamily_Peptidase_S24_S26A/B/C,prints_Pept_S26A_signal_pept_1,tigrfam_Pept_S26A_signal_pept_1 - no_errors IMMP2L HGNC ENSG00000184903 68 0 0 30 3 9.09091 GPR141 0 genome.wustl.edu 37 7 37780620 37780620 + Nonsense_Mutation SNP C C T TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 7 37780620 37780620 C T SNP GPR141 ENST00000334425 human ensembl 74_37 +1 known nonsense c.625 p.Q209* 0.031 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR141 HGNC ENSG00000187037 129 0 0 70 5 6.66667 PRKAR1B 0 genome.wustl.edu 37 7 720223 720223 + Silent SNP G G A TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 7 720223 720223 G A SNP PRKAR1B ENST00000360274 human ensembl 74_37 -1 known silent c.318 p.T106 0.001 pirsf_cAMP_dep_PK_reg_su pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin - no_errors PRKAR1B HGNC ENSG00000188191 37 0 0 25 3 10.7143 GSDMC 0 genome.wustl.edu 37 8 130763792 130763792 + Nonsense_Mutation SNP C C T TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 8 130763792 130763792 C T SNP GSDMC ENST00000276708 human ensembl 74_37 -1 known nonsense c.939 p.W313* 0.000 pfam_Gasdermin pfam_Gasdermin - no_errors GSDMC HGNC ENSG00000147697 77 0 0 39 3 7.14286 ALDOB 0 genome.wustl.edu 37 9 104187734 104187734 + Splice_Site SNP C C G TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 9 104187734 104187734 C G SNP ALDOB ENST00000374855 human ensembl 74_37 -1 known splice_site c.799+1 e6+1 1.000 - - - no_errors ALDOB HGNC ENSG00000136872 72 0 0 55 3 5.17241 BRINP1 0 genome.wustl.edu 37 9 121930162 121930162 + Missense_Mutation SNP C C T TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 9 121930162 121930162 C T SNP BRINP1 ENST00000265922 human ensembl 74_37 -1 known missense c.1486 p.D496N 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP1 HGNC ENSG00000078725 62 0 0 39 5 11.3636 BARHL1 0 genome.wustl.edu 37 9 135464778 135464778 + Missense_Mutation SNP G G A TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 9 135464778 135464778 G A SNP BARHL1 ENST00000263610 human ensembl 74_37 +1 known missense c.853 p.A285T 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors BARHL1 HGNC ENSG00000125492 57 0 0 33 4 10.8108 FAM214B 0 genome.wustl.edu 37 9 35107995 35107995 + Missense_Mutation SNP G G T TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 9 35107995 35107995 G T SNP FAM214B ENST00000322813 human ensembl 74_37 -1 known missense c.277 p.P93T 1.000 NULL NULL - no_errors FAM214B HGNC ENSG00000005238 56 0 0 35 5 12.5 KDM4C 0 genome.wustl.edu 37 9 7174616 7174616 + Nonsense_Mutation SNP A A T TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 9 7174616 7174616 A T SNP KDM4C ENST00000381309 human ensembl 74_37 +1 known nonsense c.3058 p.R1020* 1.000 superfamily_Chorismate_mutase_type_II 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 160 0 0 68 8 10.5263 COL4A6 0 genome.wustl.edu 37 X 107403018 107403018 + Missense_Mutation SNP G G T TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 X 107403018 107403018 G T SNP COL4A6 ENST00000418180 human ensembl 74_37 -1 known missense c.91 p.P31T 0.027 superfamily_C-type_lectin_fold,smart_Collagen_VI_NC pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A6 HGNC ENSG00000197565 63 0 0 44 4 8.33333 RBBP7 0 genome.wustl.edu 37 X 16870202 16870202 + Missense_Mutation SNP C C T TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 X 16870202 16870202 C T SNP RBBP7 ENST00000380087 human ensembl 74_37 -1 known missense c.1007 p.G336D 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Histone-bd_RBBP4_N,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors RBBP7 HGNC ENSG00000102054 262 0 0 167 19 10.2151 IQSEC2 0 genome.wustl.edu 37 X 53280269 53280269 + Missense_Mutation SNP C C G TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 X 53280269 53280269 C G SNP IQSEC2 ENST00000396435 human ensembl 74_37 -1 known missense c.1489 p.E497Q 1.000 NULL pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_P-loop_NTPase,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom - no_errors IQSEC2 HGNC ENSG00000124313 159 0 0 105 8 7.07965 KAL1 0 genome.wustl.edu 37 X 8591678 8591678 + Missense_Mutation SNP T T C TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 X 8591678 8591678 T C SNP KAL1 ENST00000262648 human ensembl 74_37 -1 known missense c.289 p.R97G 0.427 NULL pfam_Fibronectin_type3,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Fibronectin_type3,pfscan_Fibronectin_type3,prints_WAP-type_4-diS_core - no_errors KAL1 HGNC ENSG00000011201 36 0 0 18 4 18.1818 PCDH19 0 genome.wustl.edu 37 X 99662755 99662755 + Missense_Mutation SNP C C T TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 X 99662755 99662755 C T SNP PCDH19 ENST00000373034 human ensembl 74_37 -1 known missense c.841 p.V281I 0.998 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH19 HGNC ENSG00000165194 137 0 0 90 13 12.6214 FAM111B 0 genome.wustl.edu 37 11 58892376 58892377 + Frame_Shift_Ins INS - - A TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 11 58892376 58892377 - A INS FAM111B ENST00000343597 human ensembl 74_37 +1 known frame_shift_ins c.806_807 p.K273fs 0.000:0.000 NULL superfamily_Trypsin-like_Pept_dom - no_errors FAM111B HGNC ENSG00000189057 26 0 0 14 3 17.6471 KRTAP23-1 0 genome.wustl.edu 37 21 31720889 31720891 + In_Frame_Del DEL GGA GGA - TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 21 31720889 31720891 GGA - DEL KRTAP23-1 ENST00000334160 human ensembl 74_37 -1 known in_frame_del c.36_34 p.S12in_frame_del 0.072:0.101:0.242 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP23-1 HGNC ENSG00000186980 120 0 0 93 7 7 PDLIM5 0 genome.wustl.edu 37 4 95539322 95539323 + In_Frame_Ins INS - - GCA TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 4 95539322 95539323 - GCA INS PDLIM5 ENST00000317968 human ensembl 74_37 +1 known in_frame_ins c.1088_1089 p.365in_frame_insQ 1.000:1.000 NULL pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM5 HGNC ENSG00000163110 68 0 0 51 4 7.27273