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 TRIM33 0 genome.wustl.edu 37 1 114968300 114968300 + Missense_Mutation SNP T T A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 1 114968300 114968300 T A SNP TRIM33 ENST00000358465 human ensembl 74_37 -1 known missense c.1466 p.N489I 1.000 NULL pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Bromodomain,prints_Bromodomain - no_errors TRIM33 HGNC ENSG00000197323 131 1 0.757576 79 63 44.3662 NBPF10 0 genome.wustl.edu 37 1 145367767 145367767 + Missense_Mutation SNP G G A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 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 55 0 0 42 4 8.69565 GABPB2 0 genome.wustl.edu 37 1 151090703 151090703 + Missense_Mutation SNP A A G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 1 151090703 151090703 A G SNP GABPB2 ENST00000368918 human ensembl 74_37 +1 known missense c.1318 p.R440G 0.004 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 GABPB2 HGNC ENSG00000143458 94 0 0 71 16 18.3908 FLG 0 genome.wustl.edu 37 1 152282658 152282658 + Silent SNP G G A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 1 152282658 152282658 G A SNP FLG ENST00000368799 human ensembl 74_37 -1 known silent c.4704 p.A1568 0.000 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 415 1 0.240385 332 147 30.6889 CHRNB2 0 genome.wustl.edu 37 1 154544415 154544415 + Silent SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 1 154544415 154544415 C T SNP CHRNB2 ENST00000368476 human ensembl 74_37 +1 known silent c.1116 p.G372 0.005 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB2 HGNC ENSG00000160716 14 0 0 5 8 61.5385 FCRL1 0 genome.wustl.edu 37 1 157771760 157771760 + Silent SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 1 157771760 157771760 C T SNP FCRL1 ENST00000368176 human ensembl 74_37 -1 known silent c.831 p.E277 0.745 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL1 HGNC ENSG00000163534 129 0 0 95 29 23.3871 CD5L 0 genome.wustl.edu 37 1 157804383 157804383 + Nonsense_Mutation SNP G G A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 1 157804383 157804383 G A SNP CD5L ENST00000368174 human ensembl 74_37 -1 known nonsense c.532 p.Q178* 1.000 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors CD5L HGNC ENSG00000073754 162 0 0 115 34 22.8188 KIAA1614 0 genome.wustl.edu 37 1 180905367 180905367 + Missense_Mutation SNP A A T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 1 180905367 180905367 A T SNP KIAA1614 ENST00000367588 human ensembl 74_37 +1 known missense c.2322 p.E774D 0.002 NULL NULL - no_errors KIAA1614 HGNC ENSG00000135835 138 0 0 122 15 10.9489 ZNF648 0 genome.wustl.edu 37 1 182026306 182026306 + Silent SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 1 182026306 182026306 C T SNP ZNF648 ENST00000339948 human ensembl 74_37 -1 novel silent c.840 p.A280 0.023 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF648 HGNC ENSG00000179930 29 0 0 12 11 47.8261 KCNT2 0 genome.wustl.edu 37 1 196205114 196205114 + Splice_Site SNP A A G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 1 196205114 196205114 A G SNP KCNT2 ENST00000294725 human ensembl 74_37 -1 known splice_site c.3296+2 e27+2 1.000 - - - no_errors KCNT2 HGNC ENSG00000162687 140 0 0 123 15 10.8696 PPP2R5A 0 genome.wustl.edu 37 1 212534003 212534003 + Missense_Mutation SNP G G A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 1 212534003 212534003 G A SNP PPP2R5A ENST00000261461 human ensembl 74_37 +1 known missense c.1352 p.R451H 1.000 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5A HGNC ENSG00000066027 43 0 0 53 6 10.1695 FAM71A 0 genome.wustl.edu 37 1 212798999 212798999 + Silent SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 1 212798999 212798999 C T SNP FAM71A ENST00000294829 human ensembl 74_37 +1 known silent c.780 p.P260 0.000 NULL pfam_DUF3699 - no_errors FAM71A HGNC ENSG00000162771 159 0 0 144 24 14.2857 ACTN2 0 genome.wustl.edu 37 1 236917358 236917358 + Missense_Mutation SNP C C G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 1 236917358 236917358 C G SNP ACTN2 ENST00000366578 human ensembl 74_37 +1 known missense c.1951 p.P651A 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN2 HGNC ENSG00000077522 119 0 0 78 32 29.0909 TXLNA 0 genome.wustl.edu 37 1 32658837 32658837 + Missense_Mutation SNP A A T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 1 32658837 32658837 A T SNP TXLNA ENST00000373609 human ensembl 74_37 +1 known missense c.1187 p.E396V 1.000 pfam_Taxilin_fam pfam_Taxilin_fam - no_errors TXLNA HGNC ENSG00000084652 76 0 0 80 8 9.09091 JAK1 0 genome.wustl.edu 37 1 65304184 65304184 + Silent SNP G G C TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 1 65304184 65304184 G C SNP JAK1 ENST00000342505 human ensembl 74_37 -1 known silent c.2931 p.L977 0.991 pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak1,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors JAK1 HGNC ENSG00000162434 38 0 0 39 13 25 ELTD1 0 genome.wustl.edu 37 1 79387436 79387436 + Missense_Mutation SNP C C G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 1 79387436 79387436 C G SNP ELTD1 ENST00000370742 human ensembl 74_37 -1 known missense c.1119 p.W373C 1.000 pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors ELTD1 HGNC ENSG00000162618 63 0 0 56 10 15.1515 CLSTN1 0 genome.wustl.edu 37 1 9791209 9791209 + RNA SNP G G A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 1 9791209 9791209 G A SNP CLSTN1 ENST00000477264 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CLSTN1 HGNC ENSG00000171603 106 0 0 48 26 35.1351 SH3PXD2A 0 genome.wustl.edu 37 10 105526894 105526894 + Missense_Mutation SNP C C A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 10 105526894 105526894 C A SNP SH3PXD2A ENST00000369774 human ensembl 74_37 -1 known missense c.187 p.G63C 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain - no_errors SH3PXD2A HGNC ENSG00000107957 38 0 0 35 4 10.2564 HSPA12A 0 genome.wustl.edu 37 10 118458177 118458177 + Missense_Mutation SNP G G A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 10 118458177 118458177 G A SNP HSPA12A ENST00000369209 human ensembl 74_37 -1 known missense c.515 p.A172V 1.000 NULL NULL - no_errors HSPA12A HGNC ENSG00000165868 131 0 0 133 7 5 ENKUR 0 genome.wustl.edu 37 10 25279504 25279504 + Missense_Mutation SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 10 25279504 25279504 C T SNP ENKUR ENST00000331161 human ensembl 74_37 -1 known missense c.482 p.R161Q 1.000 NULL NULL - no_errors ENKUR HGNC ENSG00000151023 37 0 0 27 7 20.5882 FRMPD2 0 genome.wustl.edu 37 10 49393656 49393656 + Missense_Mutation SNP C C A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 10 49393656 49393656 C A SNP FRMPD2 ENST00000374201 human ensembl 74_37 -1 known missense c.2299 p.A767S 0.000 superfamily_PDZ pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam - no_errors FRMPD2 HGNC ENSG00000170324 83 0 0 78 12 13.3333 CSTF2T 0 genome.wustl.edu 37 10 53458048 53458048 + Missense_Mutation SNP C C A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 10 53458048 53458048 C A SNP CSTF2T ENST00000331173 human ensembl 74_37 -1 known missense c.1262 p.R421L 0.854 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CSTF2T HGNC ENSG00000177613 148 0 0 169 27 13.7755 TET1 0 genome.wustl.edu 37 10 70446291 70446291 + Missense_Mutation SNP G G C TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 10 70446291 70446291 G C SNP TET1 ENST00000373644 human ensembl 74_37 +1 known missense c.5231 p.R1744T 0.997 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 138 0 0 113 32 22.069 CDH23 0 genome.wustl.edu 37 10 73538045 73538045 + Missense_Mutation SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 10 73538045 73538045 C T SNP CDH23 ENST00000224721 human ensembl 74_37 +1 putative missense c.5182 p.R1728C 0.994 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 76 0 0 48 11 18.6441 OIT3 0 genome.wustl.edu 37 10 74658610 74658610 + Missense_Mutation SNP G G A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 10 74658610 74658610 G A SNP OIT3 ENST00000334011 human ensembl 74_37 +1 known missense c.250 p.A84T 1.000 NULL pfam_ZP_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors OIT3 HGNC ENSG00000138315 68 0 0 71 16 18.3908 PLCE1 0 genome.wustl.edu 37 10 95931103 95931103 + Silent SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 10 95931103 95931103 C T SNP PLCE1 ENST00000260766 human ensembl 74_37 +1 known silent c.1659 p.V553 0.392 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC ENSG00000138193 191 0 0 192 21 9.85915 MUC2 0 genome.wustl.edu 37 11 1087573 1087573 + Silent SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 11 1087573 1087573 C T SNP MUC2 ENST00000441003 human ensembl 74_37 +1 known silent c.3324 p.C1108 0.963 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 41 0 0 28 3 9.67742 SERGEF 0 genome.wustl.edu 37 11 18010292 18010292 + Missense_Mutation SNP C C A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 11 18010292 18010292 C A SNP SERGEF ENST00000265965 human ensembl 74_37 -1 known missense c.696 p.E232D 0.997 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,prints_Reg_chr_condens,pfscan_Reg_chr_condens - no_errors SERGEF HGNC ENSG00000129158 45 0 0 44 7 13.7255 AMBRA1 0 genome.wustl.edu 37 11 46430169 46430169 + Silent SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 11 46430169 46430169 C T SNP AMBRA1 ENST00000458649 human ensembl 74_37 -1 known silent c.3297 p.V1099 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AMBRA1 HGNC ENSG00000110497 72 0 0 69 14 16.8675 OR1S1 0 genome.wustl.edu 37 11 57982414 57982414 + Silent SNP G G A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 11 57982414 57982414 G A SNP OR1S1 ENST00000309433 human ensembl 74_37 +1 known silent c.198 p.T66 0.000 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 OR1S1 HGNC ENSG00000172774 168 0 0 148 68 31.4815 CNTF 0 genome.wustl.edu 37 11 58391931 58391931 + Missense_Mutation SNP C C A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 11 58391931 58391931 C A SNP CNTF ENST00000361987 human ensembl 74_37 +1 known missense c.539 p.S180Y 0.575 pfam_Ciliary_neurotrophic_fac_CNTF,superfamily_4_helix_cytokine-like_core pfam_Ciliary_neurotrophic_fac_CNTF,superfamily_4_helix_cytokine-like_core - no_errors CNTF HGNC ENSG00000242689 81 0 0 95 18 15.9292 MYO7A 0 genome.wustl.edu 37 11 76905526 76905526 + Missense_Mutation SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 11 76905526 76905526 C T SNP MYO7A ENST00000409709 human ensembl 74_37 +1 known missense c.4280 p.T1427M 0.989 superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7A HGNC ENSG00000137474 23 0 0 21 3 12.5 GRM5 0 genome.wustl.edu 37 11 88300299 88300299 + Missense_Mutation SNP T T G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 11 88300299 88300299 T G SNP GRM5 ENST00000305447 human ensembl 74_37 -1 known missense c.2552 p.K851T 1.000 prints_GPCR_3_mtglu_rcpt_5 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C - no_errors GRM5 HGNC ENSG00000168959 102 0 0 95 14 12.844 OLR1 0 genome.wustl.edu 37 12 10312524 10312524 + Silent SNP A A G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 12 10312524 10312524 A G SNP OLR1 ENST00000309539 human ensembl 74_37 -1 known silent c.777 p.A259 0.637 pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors OLR1 HGNC ENSG00000173391 111 0 0 91 35 27.7778 RPH3A 0 genome.wustl.edu 37 12 113316957 113316957 + Missense_Mutation SNP A A G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 12 113316957 113316957 A G SNP RPH3A ENST00000389385 human ensembl 74_37 +1 known missense c.1205 p.Y402C 0.880 superfamily_C2_dom pfam_C2_dom,pfam_Znf_FYVE-typ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel,prints_Synaptotagmin,prints_C2_dom - no_errors RPH3A HGNC ENSG00000089169 188 0 0 162 37 18.593 ABCC9 0 genome.wustl.edu 37 12 21997801 21997801 + Missense_Mutation SNP G G T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 12 21997801 21997801 G T SNP ABCC9 ENST00000261200 human ensembl 74_37 -1 known missense c.3145 p.L1049I 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2 - no_errors ABCC9 HGNC ENSG00000069431 60 0 0 55 15 21.4286 ANO6 0 genome.wustl.edu 37 12 45797015 45797015 + Missense_Mutation SNP A A C TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 12 45797015 45797015 A C SNP ANO6 ENST00000425752 human ensembl 74_37 +1 known missense c.1773 p.R591S 0.997 pfam_Anoctamin pfam_Anoctamin - no_errors ANO6 HGNC ENSG00000177119 62 0 0 49 8 14.0351 BIN2 0 genome.wustl.edu 37 12 51717838 51717838 + Missense_Mutation SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 12 51717838 51717838 C T SNP BIN2 ENST00000267012 human ensembl 74_37 -1 known missense c.49 p.V17M 1.000 smart_BAR_dom pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom,prints_Amphiphysin - no_errors BIN2 HGNC ENSG00000110934 87 0 0 72 5 6.49351 IKZF4 0 genome.wustl.edu 37 12 56420729 56420729 + Missense_Mutation SNP G G A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 12 56420729 56420729 G A SNP IKZF4 ENST00000262032 human ensembl 74_37 +1 known missense c.451 p.G151S 0.998 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF4 HGNC ENSG00000123411 41 0 0 27 12 30.7692 B4GALNT3 0 genome.wustl.edu 37 12 666773 666773 + Splice_Site SNP G G C TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 12 666773 666773 G C SNP B4GALNT3 ENST00000266383 human ensembl 74_37 +1 known splice_site c.2381-1 e16-1 1.000 - - - no_errors B4GALNT3 HGNC ENSG00000139044 65 0 0 50 24 32.4324 SLC2A3 0 genome.wustl.edu 37 12 8074062 8074062 + Missense_Mutation SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 12 8074062 8074062 C T SNP SLC2A3 ENST00000075120 human ensembl 74_37 -1 known missense c.1438 p.V480I 0.000 NULL pfam_Sub_transporter,pfam_MFS,pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,prints_Glc_transpt_3,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A3 HGNC ENSG00000059804 466 0 0 498 51 9.28962 COL4A1 0 genome.wustl.edu 37 13 110831620 110831620 + Missense_Mutation SNP C C A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 13 110831620 110831620 C A SNP COL4A1 ENST00000375820 human ensembl 74_37 -1 known missense c.2342 p.R781I 0.989 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC ENSG00000187498 116 0 0 139 21 13.125 TPTE2 0 genome.wustl.edu 37 13 20041401 20041401 + Missense_Mutation SNP A A C TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 13 20041401 20041401 A C SNP TPTE2 ENST00000382977 human ensembl 74_37 -1 known missense c.476 p.I159S 0.000 pfam_Ion_trans_dom pfam_Tensin_phosphatase_C2-dom,pfam_Ion_trans_dom,pfam_Dual-sp_phosphatase_cat-dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE2 HGNC ENSG00000132958 40 0 0 42 5 10.6383 SLITRK6 0 genome.wustl.edu 37 13 86369127 86369127 + Missense_Mutation SNP A A C TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 13 86369127 86369127 A C SNP SLITRK6 ENST00000400286 human ensembl 74_37 -1 known missense c.1517 p.L506R 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK6 HGNC ENSG00000184564 74 0 0 81 32 28.3186 DYNC1H1 0 genome.wustl.edu 37 14 102478443 102478443 + Missense_Mutation SNP C C A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 14 102478443 102478443 C A SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known missense c.6850 p.L2284M 1.000 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 124 0 0 89 6 6.31579 RNF31 0 genome.wustl.edu 37 14 24624667 24624667 + Missense_Mutation SNP G G C TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 14 24624667 24624667 G C SNP RNF31 ENST00000324103 human ensembl 74_37 +1 known missense c.2349 p.K783N 1.000 smart_Znf_C6HC pfam_PUB_domain,pfam_Znf_C6HC,superfamily_UBA-like,superfamily_DEATH-like_dom,superfamily_Znf_FYVE_PHD,smart_Znf_RanBP2,smart_Znf_C6HC,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RanBP2 - no_errors RNF31 HGNC ENSG00000092098 125 0 0 70 14 16.6667 DACT1 0 genome.wustl.edu 37 14 59112668 59112668 + Missense_Mutation SNP G G A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 14 59112668 59112668 G A SNP DACT1 ENST00000335867 human ensembl 74_37 +1 known missense c.1327 p.A443T 0.000 NULL NULL - no_errors DACT1 HGNC ENSG00000165617 131 0 0 94 12 11.3208 FNTB 0 genome.wustl.edu 37 14 65507581 65507581 + Silent SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 14 65507581 65507581 C T SNP FNTB ENST00000447296 human ensembl 74_37 +1 known silent c.868 p.L290 1.000 pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_Prenyltrans,pfam_Transcrpt_activator_Churchill,superfamily_Terpenoid_cyclase/PrenylTrfase - no_errors FNTB HGNC ENSG00000257365 118 0 0 90 17 15.8879 TRPM1 0 genome.wustl.edu 37 15 31318418 31318418 + Missense_Mutation SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 15 31318418 31318418 C T SNP TRPM1 ENST00000542188 human ensembl 74_37 -1 known missense c.3604 p.V1202M 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM1 HGNC ENSG00000134160 69 0 0 46 9 16.3636 MEIS2 0 genome.wustl.edu 37 15 37390190 37390190 + Missense_Mutation SNP G G A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 15 37390190 37390190 G A SNP MEIS2 ENST00000561208 human ensembl 74_37 -1 known missense c.223 p.R75W 1.000 NULL pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors MEIS2 HGNC ENSG00000134138 102 0 0 54 10 15.625 TTBK2 0 genome.wustl.edu 37 15 43038032 43038032 + Silent SNP G G A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 15 43038032 43038032 G A SNP TTBK2 ENST00000267890 human ensembl 74_37 -1 known silent c.3696 p.P1232 0.999 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TTBK2 HGNC ENSG00000128881 177 0 0 131 62 32.1244 FBN1 0 genome.wustl.edu 37 15 48712976 48712976 + Missense_Mutation SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 15 48712976 48712976 C T SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known missense c.7727 p.R2576H 1.000 pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 64 0 0 73 10 12.0482 ACAN 0 genome.wustl.edu 37 15 89384998 89384998 + Silent SNP C C A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 15 89384998 89384998 C A SNP ACAN ENST00000439576 human ensembl 74_37 +1 known silent c.657 p.G219 1.000 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link,prints_Link pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors ACAN HGNC ENSG00000157766 109 0 0 86 17 16.5049 CIITA 0 genome.wustl.edu 37 16 11001447 11001447 + Missense_Mutation SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 16 11001447 11001447 C T SNP CIITA ENST00000324288 human ensembl 74_37 +1 known missense c.2098 p.R700W 0.000 pfscan_NACHT_NTPase superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,prints_MHC_II_transact - no_errors CIITA HGNC ENSG00000179583 172 0 0 101 18 15.1261 TNP2 0 genome.wustl.edu 37 16 11362819 11362819 + Missense_Mutation SNP G G A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 16 11362819 11362819 G A SNP TNP2 ENST00000312693 human ensembl 74_37 -1 known missense c.301 p.R101C 0.025 pfam_TP2 pfam_TP2 - no_errors TNP2 HGNC ENSG00000178279 91 0 0 91 14 13.3333 BAIAP3 0 genome.wustl.edu 37 16 1392041 1392041 + Silent SNP C C A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 16 1392041 1392041 C A SNP BAIAP3 ENST00000324385 human ensembl 74_37 +1 known silent c.936 p.V312 1.000 superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_Munc13_subgr_dom-2,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors BAIAP3 HGNC ENSG00000007516 78 0 0 52 5 8.77193 DNAH3 0 genome.wustl.edu 37 16 20976432 20976432 + Missense_Mutation SNP T T A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 16 20976432 20976432 T A SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.8774 p.K2925I 1.000 superfamily_Prefoldin pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 287 0 0 184 79 30.038 DNAH3 0 genome.wustl.edu 37 16 20976433 20976433 + Missense_Mutation SNP T T G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 16 20976433 20976433 T G SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.8773 p.K2925Q 0.999 superfamily_Prefoldin pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 287 0 0 180 80 30.7692 PKD1 0 genome.wustl.edu 37 16 2161261 2161261 + Missense_Mutation SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 16 2161261 2161261 C T SNP PKD1 ENST00000262304 human ensembl 74_37 -1 known missense c.3907 p.A1303T 0.191 pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,tigrfam_Polycystin_cat pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 65 0 0 38 16 29.6296 ECI1 0 genome.wustl.edu 37 16 2296861 2296861 + Missense_Mutation SNP G G C TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 16 2296861 2296861 G C SNP ECI1 ENST00000301729 human ensembl 74_37 -1 known missense c.293 p.S98W 0.973 pfam_Crotonase_core_superfam pfam_Crotonase_core_superfam - no_errors ECI1 HGNC ENSG00000167969 179 0 0 135 10 6.89655 KIF22 0 genome.wustl.edu 37 16 29809747 29809747 + Missense_Mutation SNP T T C TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 16 29809747 29809747 T C SNP KIF22 ENST00000160827 human ensembl 74_37 +1 known missense c.319 p.S107P 0.989 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_RuvA_2-like,smart_Kinesin_motor_dom,smart_Hlx-hairpin-Hlx_DNA-bd_motif,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF22 HGNC ENSG00000079616 131 0 0 111 6 5.12821 DOC2A 0 genome.wustl.edu 37 16 30018255 30018255 + Missense_Mutation SNP C C A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 16 30018255 30018255 C A SNP DOC2A ENST00000350119 human ensembl 74_37 -1 known missense c.729 p.E243D 0.999 pirsf_Doc2 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pirsf_Doc2,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom - no_errors DOC2A HGNC ENSG00000149927 58 0 0 24 9 27.2727 CREBBP 0 genome.wustl.edu 37 16 3786799 3786799 + Missense_Mutation SNP A A T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 16 3786799 3786799 A T SNP CREBBP ENST00000262367 human ensembl 74_37 -1 known missense c.4412 p.I1471N 1.000 pfam_Histone_H3-K56_AcTrfase_RTT109 pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 140 0 0 122 28 18.6667 THAP11 0 genome.wustl.edu 37 16 67876787 67876787 + Silent SNP G G A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 16 67876787 67876787 G A SNP THAP11 ENST00000303596 human ensembl 74_37 +1 known silent c.330 p.Q110 0.954 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP11 HGNC ENSG00000168286 115 0 0 60 18 23.0769 THAP11 0 genome.wustl.edu 37 16 67876796 67876796 + Silent SNP A A G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 16 67876796 67876796 A G SNP THAP11 ENST00000303596 human ensembl 74_37 +1 known silent c.339 p.Q113 0.098 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP11 HGNC ENSG00000168286 129 1 0.769231 75 15 16.6667 CRISPLD2 0 genome.wustl.edu 37 16 84940234 84940234 + Missense_Mutation SNP G G T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 16 84940234 84940234 G T SNP CRISPLD2 ENST00000262424 human ensembl 74_37 +1 known missense c.1480 p.A494S 0.807 NULL pfam_LCCL,pfam_CAP_domain,superfamily_CAP_domain,superfamily_LCCL,smart_Allrgn_V5/Tpx1,smart_LCCL,pfscan_LCCL,prints_Allrgn_V5/Tpx1 - no_errors CRISPLD2 HGNC ENSG00000103196 127 0 0 109 33 23.2394 RAB11FIP4 0 genome.wustl.edu 37 17 29848243 29848243 + Missense_Mutation SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 17 29848243 29848243 C T SNP RAB11FIP4 ENST00000325874 human ensembl 74_37 +1 known missense c.623 p.S208L 1.000 NULL pfam_Rab-bd_FIP-RBD,pfscan_EF_hand_dom - no_errors RAB11FIP4 HGNC ENSG00000131242 261 0 0 252 23 8.36364 KRT24 0 genome.wustl.edu 37 17 38854498 38854498 + Missense_Mutation SNP T T G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 17 38854498 38854498 T G SNP KRT24 ENST00000264651 human ensembl 74_37 -1 known missense c.1569 p.K523N 0.070 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT24 HGNC ENSG00000167916 76 0 0 79 16 16.8421 ITGA3 0 genome.wustl.edu 37 17 48156529 48156529 + Silent SNP G G A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 17 48156529 48156529 G A SNP ITGA3 ENST00000320031 human ensembl 74_37 +1 known silent c.2490 p.L830 1.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA3 HGNC ENSG00000005884 125 0 0 123 17 12.1429 TP53 0 genome.wustl.edu 37 17 7578500 7578500 + Nonsense_Mutation SNP G G A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 17 7578500 7578500 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known nonsense c.430 p.Q144* 0.999 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 77 0 0 37 28 43.0769 TSPAN10 0 genome.wustl.edu 37 17 79612272 79612272 + Silent SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 17 79612272 79612272 C T SNP TSPAN10 ENST00000328585 human ensembl 74_37 +1 known silent c.291 p.I97 0.000 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN10 HGNC ENSG00000182612 127 0 0 94 36 27.6923 TBCD 0 genome.wustl.edu 37 17 80726295 80726295 + Splice_Site SNP G G A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 17 80726295 80726295 G A SNP TBCD ENST00000355528 human ensembl 74_37 +1 known splice_site c.436-1 e5-1 1.000 - - - no_errors TBCD HGNC ENSG00000141556 301 0 0 268 41 13.2686 DSG3 0 genome.wustl.edu 37 18 29044178 29044178 + Silent SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 18 29044178 29044178 C T SNP DSG3 ENST00000257189 human ensembl 74_37 +1 known silent c.1104 p.T368 0.010 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin - no_errors DSG3 HGNC ENSG00000134757 52 0 0 47 5 9.61538 PQLC1 0 genome.wustl.edu 37 18 77679319 77679319 + Missense_Mutation SNP C C A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 18 77679319 77679319 C A SNP PQLC1 ENST00000397778 human ensembl 74_37 -1 known missense c.473 p.G158V 1.000 NULL smart_CTNS - no_errors PQLC1 HGNC ENSG00000122490 82 0 0 43 18 29.5082 KANK2 0 genome.wustl.edu 37 19 11289026 11289026 + Silent SNP G G A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 19 11289026 11289026 G A SNP KANK2 ENST00000432929 human ensembl 74_37 -1 known silent c.1539 p.N513 0.983 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK2 HGNC ENSG00000197256 44 0 0 36 4 10 ZNF433 0 genome.wustl.edu 37 19 12128997 12128997 + Missense_Mutation SNP C C G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 19 12128997 12128997 C G SNP ZNF433 ENST00000344980 human ensembl 74_37 -1 known missense c.123 p.R41S 0.046 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF433 HGNC ENSG00000197647 92 0 0 61 4 6.15385 ACTN4 0 genome.wustl.edu 37 19 39218653 39218653 + Missense_Mutation SNP A A C TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 19 39218653 39218653 A C SNP ACTN4 ENST00000252699 human ensembl 74_37 +1 known missense c.2405 p.E802A 1.000 NULL pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN4 HGNC ENSG00000130402 41 0 0 28 4 12.5 SPIB 0 genome.wustl.edu 37 19 50926202 50926202 + Missense_Mutation SNP T T A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 19 50926202 50926202 T A SNP SPIB ENST00000595883 human ensembl 74_37 +1 known missense c.247 p.Y83N 0.998 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors SPIB HGNC ENSG00000269404 200 1 0.497512 158 25 13.6612 MBOAT7 0 genome.wustl.edu 37 19 54678121 54678121 + Missense_Mutation SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 19 54678121 54678121 C T SNP MBOAT7 ENST00000245615 human ensembl 74_37 -1 known missense c.1036 p.A346T 1.000 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors MBOAT7 HGNC ENSG00000125505 64 0 0 56 14 20 NLRP11 0 genome.wustl.edu 37 19 56329269 56329269 + Splice_Site SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 19 56329269 56329269 C T SNP NLRP11 ENST00000443188 human ensembl 74_37 -1 known splice_site c.271+1 e1+1 0.359 - - - no_errors NLRP11 HGNC ENSG00000179873 91 0 0 135 16 10.596 ZNF835 0 genome.wustl.edu 37 19 57175530 57175530 + Missense_Mutation SNP A A G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 19 57175530 57175530 A G SNP ZNF835 ENST00000537055 human ensembl 74_37 -1 known missense c.1037 p.V346A 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF835 HGNC ENSG00000127903 49 0 0 29 15 34.0909 SPOPL 0 genome.wustl.edu 37 2 139326567 139326567 + Missense_Mutation SNP T T A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 2 139326567 139326567 T A SNP SPOPL ENST00000280098 human ensembl 74_37 +1 known missense c.1096 p.L366I 1.000 NULL pfam_BTB_POZ,pfam_MATH,superfamily_TRAF-like,superfamily_BTB/POZ_fold,smart_MATH,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_MATH - no_errors SPOPL HGNC ENSG00000144228 328 0 0 341 32 8.57909 SLC4A10 0 genome.wustl.edu 37 2 162821608 162821608 + Silent SNP G G A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 2 162821608 162821608 G A SNP SLC4A10 ENST00000446997 human ensembl 74_37 +1 known silent c.3084 p.T1028 1.000 tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A10 HGNC ENSG00000144290 30 0 0 24 5 17.2414 TTN 0 genome.wustl.edu 37 2 179584365 179584365 + Missense_Mutation SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 2 179584365 179584365 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.20122 p.E6708K 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 149 0 0 126 15 10.6383 FSIP2 0 genome.wustl.edu 37 2 186678329 186678329 + Missense_Mutation SNP C C A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 2 186678329 186678329 C A SNP FSIP2 ENST00000343098 human ensembl 74_37 +1 known missense c.20152 p.L6718I 1.000 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 30 0 0 22 4 15.3846 HSPD1 0 genome.wustl.edu 37 2 198362005 198362005 + Missense_Mutation SNP T T C TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 2 198362005 198362005 T C SNP HSPD1 ENST00000345042 human ensembl 74_37 -1 known missense c.286 p.K96E 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chaprnin_Cpn60 pfam_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,superfamily_Cpn60/TCP-1,prints_Chaprnin_Cpn60,prints_Chaperone_TCP-1,tigrfam_Chaprnin_Cpn60 - no_errors HSPD1 HGNC ENSG00000144381 99 0 0 86 13 13.1313 ERBB4 0 genome.wustl.edu 37 2 212286786 212286786 + Silent SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 2 212286786 212286786 C T SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known silent c.2910 p.L970 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB4 HGNC ENSG00000178568 86 0 0 42 11 20.7547 SPEG 0 genome.wustl.edu 37 2 220355285 220355285 + Missense_Mutation SNP C C A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 2 220355285 220355285 C A SNP SPEG ENST00000312358 human ensembl 74_37 +1 novel missense c.9076 p.H3026N 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors SPEG HGNC ENSG00000072195 94 0 0 78 14 15.2174 HJURP 0 genome.wustl.edu 37 2 234749815 234749815 + Missense_Mutation SNP C C A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 2 234749815 234749815 C A SNP HJURP ENST00000411486 human ensembl 74_37 -1 known missense c.1611 p.Q537H 0.000 NULL pfam_HJURP,pfam_HJURP_C,pfam_Centromere_Scm3_N - no_errors HJURP HGNC ENSG00000123485 122 0 0 120 15 11.1111 ACTG2 0 genome.wustl.edu 37 2 74129543 74129543 + Missense_Mutation SNP C C A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 2 74129543 74129543 C A SNP ACTG2 ENST00000345517 human ensembl 74_37 +1 known missense c.183 p.S61R 1.000 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTG2 HGNC ENSG00000163017 66 0 0 69 9 11.5385 CTNNA2 0 genome.wustl.edu 37 2 80808879 80808879 + Missense_Mutation SNP G G T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 2 80808879 80808879 G T SNP CTNNA2 ENST00000361291 human ensembl 74_37 +1 known missense c.2044 p.D682Y 1.000 pfam_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 60 0 0 70 5 6.66667 ADAM17 0 genome.wustl.edu 37 2 9630307 9630307 + Nonstop_Mutation SNP T T A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 2 9630307 9630307 T A SNP ADAM17 ENST00000310823 human ensembl 74_37 -1 known nonstop c.2474 p.*825L 0.844 NULL pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAM17 HGNC ENSG00000151694 55 0 0 57 8 12.3077 ADAM33 0 genome.wustl.edu 37 20 3654882 3654882 + Missense_Mutation SNP A A G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 20 3654882 3654882 A G SNP ADAM33 ENST00000356518 human ensembl 74_37 -1 known missense c.650 p.V217A 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM33 HGNC ENSG00000149451 136 0 0 110 13 10.5691 RALGAPB 0 genome.wustl.edu 37 20 37137784 37137784 + Missense_Mutation SNP C C G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 20 37137784 37137784 C G SNP RALGAPB ENST00000262879 human ensembl 74_37 +1 known missense c.805 p.L269V 1.000 NULL superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPB HGNC ENSG00000170471 115 0 0 138 13 8.60927 PTPRT 0 genome.wustl.edu 37 20 40714431 40714431 + Silent SNP G G A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 20 40714431 40714431 G A SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known silent c.3966 p.F1322 0.214 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 114 0 0 158 24 13.1868 SLC2A10 0 genome.wustl.edu 37 20 45354654 45354654 + Missense_Mutation SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 20 45354654 45354654 C T SNP SLC2A10 ENST00000359271 human ensembl 74_37 +1 known missense c.979 p.P327S 0.049 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt - no_errors SLC2A10 HGNC ENSG00000197496 120 0 0 140 12 7.89474 ZGPAT 0 genome.wustl.edu 37 20 62339972 62339972 + Missense_Mutation SNP C C G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 20 62339972 62339972 C G SNP ZGPAT ENST00000328969 human ensembl 74_37 +1 known missense c.40 p.R14G 0.055 NULL pfam_G_patch_dom,smart_Znf_CCCH,smart_G_patch_dom,pfscan_G_patch_dom - no_errors ZGPAT HGNC ENSG00000197114 87 0 0 111 10 8.26446 UCKL1 0 genome.wustl.edu 37 20 62577873 62577873 + Missense_Mutation SNP G G C TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 20 62577873 62577873 G C SNP UCKL1 ENST00000354216 human ensembl 74_37 -1 known missense c.237 p.I79M 1.000 NULL pfam_PRK/URK,pfam_CPT,superfamily_P-loop_NTPase,prints_Uridine_kinase,prints_PRK,tigrfam_Uridine_kinase - no_errors UCKL1 HGNC ENSG00000198276 77 0 0 76 6 7.31707 DSCAM 0 genome.wustl.edu 37 21 41496224 41496224 + Silent SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 21 41496224 41496224 C T SNP DSCAM ENST00000400454 human ensembl 74_37 -1 known silent c.3594 p.A1198 0.215 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 172 0 0 91 39 30 KRTAP10-5 0 genome.wustl.edu 37 21 46000423 46000423 + Silent SNP G G A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 21 46000423 46000423 G A SNP KRTAP10-5 ENST00000400372 human ensembl 74_37 -1 known silent c.33 p.S11 0.022 NULL NULL - no_errors KRTAP10-5 HGNC ENSG00000241123 185 0 0 113 14 11.0236 PTTG1IP 0 genome.wustl.edu 37 21 46271452 46271452 + Missense_Mutation SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 21 46271452 46271452 C T SNP PTTG1IP ENST00000445724 human ensembl 74_37 -1 known missense c.259 p.A87T 0.000 NULL NULL - no_errors PTTG1IP HGNC ENSG00000183255 125 0 0 96 6 5.88235 DEPDC5 0 genome.wustl.edu 37 22 32275619 32275619 + Missense_Mutation SNP A A G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 22 32275619 32275619 A G SNP DEPDC5 ENST00000266091 human ensembl 74_37 +1 known missense c.3848 p.H1283R 1.000 NULL pfam_IML1,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC5 HGNC ENSG00000100150 133 0 0 89 28 23.9316 ARHGAP31 0 genome.wustl.edu 37 3 119133443 119133443 + Silent SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 3 119133443 119133443 C T SNP ARHGAP31 ENST00000264245 human ensembl 74_37 +1 known silent c.2667 p.D889 0.891 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP31 HGNC ENSG00000031081 140 0 0 149 23 13.3721 ARHGAP31 0 genome.wustl.edu 37 3 119133998 119133998 + Silent SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 3 119133998 119133998 C T SNP ARHGAP31 ENST00000264245 human ensembl 74_37 +1 known silent c.3222 p.S1074 0.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP31 HGNC ENSG00000031081 290 0 0 210 65 23.6364 NEK11 0 genome.wustl.edu 37 3 130887684 130887684 + Missense_Mutation SNP A A G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 3 130887684 130887684 A G SNP NEK11 ENST00000383366 human ensembl 74_37 +1 known missense c.1187 p.H396R 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK11 HGNC ENSG00000114670 31 0 0 17 9 34.6154 XRN1 0 genome.wustl.edu 37 3 142048403 142048403 + Missense_Mutation SNP A A G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 3 142048403 142048403 A G SNP XRN1 ENST00000264951 human ensembl 74_37 -1 known missense c.4274 p.M1425T 0.967 pirsf_5_3_exoribonuclease_1 pfam_Put_53exo,pirsf_5_3_exoribonuclease_1 - no_errors XRN1 HGNC ENSG00000114127 44 0 0 45 12 21.0526 HPS3 0 genome.wustl.edu 37 3 148881673 148881673 + Silent SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 3 148881673 148881673 C T SNP HPS3 ENST00000296051 human ensembl 74_37 +1 known silent c.2526 p.H842 0.021 pirsf_HPS3 pirsf_HPS3 - no_errors HPS3 HGNC ENSG00000163755 37 0 0 31 4 11.4286 SI 0 genome.wustl.edu 37 3 164712098 164712098 + Missense_Mutation SNP T T A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 3 164712098 164712098 T A SNP SI ENST00000264382 human ensembl 74_37 -1 known missense c.4788 p.Q1596H 1.000 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 43 0 0 47 5 9.61538 EPHA3 0 genome.wustl.edu 37 3 89456511 89456511 + Missense_Mutation SNP T T G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 3 89456511 89456511 T G SNP EPHA3 ENST00000336596 human ensembl 74_37 +1 known missense c.1687 p.L563V 0.988 pirsf_Tyr_kinase_ephrin_rcpt pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA3 HGNC ENSG00000044524 38 0 0 45 4 8.16327 SLC9B1 0 genome.wustl.edu 37 4 103912856 103912856 + Nonsense_Mutation SNP C C A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 4 103912856 103912856 C A SNP SLC9B1 ENST00000296422 human ensembl 74_37 -1 known nonsense c.13 p.E5* 0.017 NULL pfam_Cation/H_exchanger - no_errors SLC9B1 HGNC ENSG00000164037 12 0 0 3 2 40 KIAA1109 0 genome.wustl.edu 37 4 123271022 123271022 + Missense_Mutation SNP G G T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 4 123271022 123271022 G T SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known missense c.13642 p.V4548F 1.000 pfam_Fragile_site-assoc_C pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 133 1 0.746269 149 11 6.875 FAT4 0 genome.wustl.edu 37 4 126370306 126370306 + Missense_Mutation SNP T T A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 4 126370306 126370306 T A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.8135 p.M2712K 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 97 0 0 86 25 22.5225 TKTL2 0 genome.wustl.edu 37 4 164393459 164393459 + Silent SNP G G T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 4 164393459 164393459 G T SNP TKTL2 ENST00000280605 human ensembl 74_37 -1 known silent c.1428 p.T476 0.999 pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors TKTL2 HGNC ENSG00000151005 137 0 0 116 36 23.6842 TLL1 0 genome.wustl.edu 37 4 166795130 166795130 + Missense_Mutation SNP T T A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 4 166795130 166795130 T A SNP TLL1 ENST00000061240 human ensembl 74_37 +1 known missense c.74 p.L25Q 0.124 pirsf_BMP_1/tolloid-like pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL1 HGNC ENSG00000038295 259 0 0 283 37 11.5625 AADAT 0 genome.wustl.edu 37 4 170985953 170985953 + Missense_Mutation SNP C C G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 4 170985953 170985953 C G SNP AADAT ENST00000509167 human ensembl 74_37 -1 known missense c.1063 p.A355P 0.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors AADAT HGNC ENSG00000109576 53 0 0 47 10 17.5439 SLIT2 0 genome.wustl.edu 37 4 20618788 20618788 + Missense_Mutation SNP A A T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 4 20618788 20618788 A T SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known missense c.4103 p.D1368V 1.000 smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 87 0 0 92 11 10.6796 GABRG1 0 genome.wustl.edu 37 4 46067511 46067511 + Missense_Mutation SNP T T C TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 4 46067511 46067511 T C SNP GABRG1 ENST00000295452 human ensembl 74_37 -1 known missense c.412 p.N138D 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg1_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG1 HGNC ENSG00000163285 37 0 0 21 7 25 GABRB1 0 genome.wustl.edu 37 4 47033961 47033961 + Silent SNP G G A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 4 47033961 47033961 G A SNP GABRB1 ENST00000295454 human ensembl 74_37 +1 known silent c.111 p.V37 1.000 superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB1 HGNC ENSG00000163288 208 0 0 147 46 23.8342 JAKMIP1 0 genome.wustl.edu 37 4 6107560 6107560 + Silent SNP G G A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 4 6107560 6107560 G A SNP JAKMIP1 ENST00000409021 human ensembl 74_37 -1 known silent c.264 p.R88 0.988 NULL NULL - no_errors JAKMIP1 HGNC ENSG00000152969 54 0 0 34 16 32 UGT2A2 0 genome.wustl.edu 37 4 70505297 70505297 + Nonsense_Mutation SNP A A T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 4 70505297 70505297 A T SNP UGT2A2 ENST00000457664 human ensembl 74_37 -1 known nonsense c.62 p.L21* 0.389 NULL pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2A2 HGNC ENSG00000271271 48 0 0 44 6 12 RUFY3 0 genome.wustl.edu 37 4 71654634 71654634 + Missense_Mutation SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 4 71654634 71654634 C T SNP RUFY3 ENST00000417478 human ensembl 74_37 +1 known missense c.1363 p.R455W 1.000 NULL pfam_Run,superfamily_Prefoldin,smart_Run,pfscan_Run - no_errors RUFY3 HGNC ENSG00000018189 92 0 0 50 35 41.1765 PPEF2 0 genome.wustl.edu 37 4 76794425 76794425 + Missense_Mutation SNP C C A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 4 76794425 76794425 C A SNP PPEF2 ENST00000286719 human ensembl 74_37 -1 known missense c.1361 p.G454V 1.000 pirsf_Ser/Thr-Pase_EF-hand_contain,pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase pirsf_Ser/Thr-Pase_EF-hand_contain,pfam_PEstase_dom,pfam_PPP_dom,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_dom,prints_Ser/Thr-sp_prot-phosphatase,pfscan_EF_hand_dom - no_errors PPEF2 HGNC ENSG00000156194 81 0 0 59 20 25.3165 ARHGAP24 0 genome.wustl.edu 37 4 86863309 86863309 + Missense_Mutation SNP A A T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 4 86863309 86863309 A T SNP ARHGAP24 ENST00000395184 human ensembl 74_37 +1 known missense c.482 p.D161V 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP24 HGNC ENSG00000138639 56 0 0 46 11 19.2982 ARHGAP24 0 genome.wustl.edu 37 4 86863412 86863412 + Missense_Mutation SNP G G T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 4 86863412 86863412 G T SNP ARHGAP24 ENST00000395184 human ensembl 74_37 +1 known missense c.585 p.K195N 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP24 HGNC ENSG00000138639 64 0 0 51 15 22.7273 ARHGAP24 0 genome.wustl.edu 37 4 86921732 86921732 + Nonsense_Mutation SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 4 86921732 86921732 C T SNP ARHGAP24 ENST00000395184 human ensembl 74_37 +1 known nonsense c.2104 p.R702* 1.000 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP24 HGNC ENSG00000138639 51 0 0 44 12 21.4286 SLCO6A1 0 genome.wustl.edu 37 5 101709135 101709135 + Missense_Mutation SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 5 101709135 101709135 C T SNP SLCO6A1 ENST00000379807 human ensembl 74_37 -1 known missense c.2081 p.R694H 0.000 superfamily_MFS_dom_general_subst_transpt pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO6A1 HGNC ENSG00000205359 68 0 0 32 16 33.3333 SPARC 0 genome.wustl.edu 37 5 151051184 151051184 + Missense_Mutation SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 5 151051184 151051184 C T SNP SPARC ENST00000231061 human ensembl 74_37 -1 known missense c.280 p.V94M 1.000 smart_Fol_N,smart_Kazal_dom pfam_SPARC/Testican_Ca-bd-dom,pfam_Follistatin/Osteonectin_EGF,pfam_Kazal_dom,smart_Fol_N,smart_Kazal_dom - no_errors SPARC HGNC ENSG00000113140 234 0 0 142 99 41.0788 DOCK2 0 genome.wustl.edu 37 5 169188588 169188588 + Missense_Mutation SNP C C A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 5 169188588 169188588 C A SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known missense c.2513 p.S838Y 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 157 0 0 144 27 15.7895 HTR1A 0 genome.wustl.edu 37 5 63256773 63256773 + Silent SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 5 63256773 63256773 C T SNP HTR1A ENST00000323865 human ensembl 74_37 -1 known silent c.774 p.S258 0.004 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt - no_errors HTR1A HGNC ENSG00000178394 161 0 0 115 7 5.7377 CCNC 0 genome.wustl.edu 37 6 100009499 100009499 + Silent SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 6 100009499 100009499 C T SNP CCNC ENST00000520429 human ensembl 74_37 -1 known silent c.198 p.T66 0.973 pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_CyclinC pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_CyclinC - no_errors CCNC HGNC ENSG00000112237 60 0 0 48 7 12.7273 TPD52L1 0 genome.wustl.edu 37 6 125584070 125584070 + Missense_Mutation SNP G G C TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 6 125584070 125584070 G C SNP TPD52L1 ENST00000534000 human ensembl 74_37 +1 known missense c.577 p.G193R 0.002 NULL pfam_TPD52 - no_errors TPD52L1 HGNC ENSG00000111907 48 0 0 40 16 28.5714 DHX16 0 genome.wustl.edu 37 6 30638885 30638885 + Missense_Mutation SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 6 30638885 30638885 C T SNP DHX16 ENST00000376442 human ensembl 74_37 -1 known missense c.374 p.R125Q 1.000 NULL pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX16 HGNC ENSG00000204560 243 0 0 226 47 17.2161 COL11A2 0 genome.wustl.edu 37 6 33141499 33141499 + Silent SNP G G T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 6 33141499 33141499 G T SNP COL11A2 ENST00000341947 human ensembl 74_37 -1 known silent c.2607 p.P869 0.643 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A2 HGNC ENSG00000204248 48 0 0 41 9 18 CUTA 0 genome.wustl.edu 37 6 33385863 33385863 + Splice_Site SNP C C G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 6 33385863 33385863 C G SNP CUTA ENST00000374500 human ensembl 74_37 -1 known splice_site c.99+1 e1+1 1.000 - - - no_errors CUTA HGNC ENSG00000112514 99 0 0 64 18 21.9512 FRS3 0 genome.wustl.edu 37 6 41738614 41738614 + Missense_Mutation SNP C C A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 6 41738614 41738614 C A SNP FRS3 ENST00000259748 human ensembl 74_37 -1 known missense c.1222 p.G408W 0.998 NULL pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors FRS3 HGNC ENSG00000137218 84 0 0 50 21 29.5775 AARS2 0 genome.wustl.edu 37 6 44270564 44270564 + Missense_Mutation SNP G G A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 6 44270564 44270564 G A SNP AARS2 ENST00000244571 human ensembl 74_37 -1 known missense c.2339 p.A780V 0.999 superfamily_Thr/Ala-tRNA-synth_IIc_edit,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-lgiase_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc - no_errors AARS2 HGNC ENSG00000124608 41 0 0 36 3 7.69231 SUPT3H 0 genome.wustl.edu 37 6 45332990 45332990 + Missense_Mutation SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 6 45332990 45332990 C T SNP SUPT3H ENST00000306867 human ensembl 74_37 -1 known missense c.49 p.G17R 1.000 NULL pfam_TFIID-18,superfamily_Histone-fold - no_errors SUPT3H HGNC ENSG00000196284 71 0 0 44 7 13.7255 BMP5 0 genome.wustl.edu 37 6 55639028 55639028 + Silent SNP G G A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 6 55639028 55639028 G A SNP BMP5 ENST00000370830 human ensembl 74_37 -1 known silent c.846 p.N282 0.988 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP5 HGNC ENSG00000112175 92 0 0 106 17 13.8211 KCNQ5 0 genome.wustl.edu 37 6 73900347 73900347 + Silent SNP A A T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 6 73900347 73900347 A T SNP KCNQ5 ENST00000402622 human ensembl 74_37 +1 known silent c.1659 p.P553 0.074 pfam_K_chnl_volt-dep_KCNQ_C pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ5 HGNC ENSG00000185760 39 0 0 24 10 29.4118 CUX1 0 genome.wustl.edu 37 7 101821910 101821910 + Missense_Mutation SNP G G T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 7 101821910 101821910 G T SNP CUX1 ENST00000360264 human ensembl 74_37 +1 known missense c.1023 p.Q341H 1.000 superfamily_LemA-like_dom pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors CUX1 HGNC ENSG00000257923 28 0 0 16 11 40.7407 AASS 0 genome.wustl.edu 37 7 121773576 121773576 + Missense_Mutation SNP C C G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 7 121773576 121773576 C G SNP AASS ENST00000393376 human ensembl 74_37 -1 known missense c.205 p.D69H 1.000 pfam_AlaDH/PNT_N pfam_Saccharopine_DH/HSpermid_syn,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N - no_errors AASS HGNC ENSG00000008311 49 0 0 65 4 5.7971 ABCB8 0 genome.wustl.edu 37 7 150733041 150733041 + Nonsense_Mutation SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 7 150733041 150733041 C T SNP ABCB8 ENST00000297504 human ensembl 74_37 +1 known nonsense c.1051 p.Q351* 0.878 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB8 HGNC ENSG00000197150 63 0 0 47 9 16.0714 ABCA13 0 genome.wustl.edu 37 7 48450173 48450173 + Missense_Mutation SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 7 48450173 48450173 C T SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.12127 p.R4043C 0.788 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 178 0 0 164 55 25.1142 PCLO 0 genome.wustl.edu 37 7 82579130 82579130 + Missense_Mutation SNP G G A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 7 82579130 82579130 G A SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.10774 p.R3592C 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 60 0 0 80 27 25.2336 ABCB1 0 genome.wustl.edu 37 7 87179782 87179782 + Splice_Site SNP A A G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 7 87179782 87179782 A G SNP ABCB1 ENST00000265724 human ensembl 74_37 -1 known splice_site c.1224+2 e10+2 1.000 - - - no_errors ABCB1 HGNC ENSG00000085563 48 0 0 40 8 16.6667 CCDC132 0 genome.wustl.edu 37 7 92887535 92887535 + Missense_Mutation SNP A A G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 7 92887535 92887535 A G SNP CCDC132 ENST00000305866 human ensembl 74_37 +1 known missense c.487 p.K163E 1.000 pfam_Vacuolar_sorting-assoc_54 pfam_Vacuolar_sorting-assoc_54,pfam_DUF2451_C - no_errors CCDC132 HGNC ENSG00000004766 43 0 0 26 9 25.7143 OR2AE1 0 genome.wustl.edu 37 7 99473925 99473925 + Silent SNP G G T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 7 99473925 99473925 G T SNP OR2AE1 ENST00000316368 human ensembl 74_37 -1 known silent c.732 p.L244 0.596 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2AE1 HGNC ENSG00000244623 92 0 0 93 41 30.597 UBR5 0 genome.wustl.edu 37 8 103297970 103297970 + Nonsense_Mutation SNP A A C TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 8 103297970 103297970 A C SNP UBR5 ENST00000520539 human ensembl 74_37 -1 known nonsense c.5255 p.L1752* 1.000 NULL pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 70 0 0 85 54 38.8489 CSMD3 0 genome.wustl.edu 37 8 113933973 113933973 + Missense_Mutation SNP A A C TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 8 113933973 113933973 A C SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.1516 p.S506A 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 53 0 0 99 12 10.8108 TRPS1 0 genome.wustl.edu 37 8 116427158 116427158 + Nonsense_Mutation SNP A A C TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 8 116427158 116427158 A C SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known nonsense c.2978 p.L993* 1.000 NULL pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 155 0 0 316 29 8.4058 HAS2 0 genome.wustl.edu 37 8 122626532 122626532 + Silent SNP C C G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 8 122626532 122626532 C G SNP HAS2 ENST00000303924 human ensembl 74_37 -1 known silent c.1476 p.V492 0.995 NULL pfam_Chitin_synth_fng - no_errors HAS2 HGNC ENSG00000170961 131 0 0 190 26 12.037 FAM86B2 0 genome.wustl.edu 37 8 12286292 12286292 + Nonsense_Mutation SNP G G A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 8 12286292 12286292 G A SNP FAM86B2 ENST00000262365 human ensembl 74_37 -1 known nonsense c.592 p.R198* 0.898 pfam_Nicotinamide_N-MeTfrase-like pfam_Nicotinamide_N-MeTfrase-like - no_errors FAM86B2 HGNC ENSG00000145002 69 0 0 39 7 15.2174 LRRC6 0 genome.wustl.edu 37 8 133584696 133584696 + Missense_Mutation SNP G G T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 8 133584696 133584696 G T SNP LRRC6 ENST00000250173 human ensembl 74_37 -1 known missense c.1259 p.P420H 0.961 NULL superfamily_HSP20-like_chaperone,smart_U2A'_phosphoprotein32A_C,pfscan_CS_dom - no_errors LRRC6 HGNC ENSG00000129295 111 0 0 199 13 6.13208 RNF122 0 genome.wustl.edu 37 8 33416224 33416224 + Nonsense_Mutation SNP G G A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 8 33416224 33416224 G A SNP RNF122 ENST00000256257 human ensembl 74_37 -1 known nonsense c.91 p.Q31* 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF122 HGNC ENSG00000133874 95 0 0 70 10 12.5 SOX17 0 genome.wustl.edu 37 8 55371955 55371955 + Silent SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 8 55371955 55371955 C T SNP SOX17 ENST00000297316 human ensembl 74_37 +1 known silent c.645 p.D215 1.000 pfam_Sox_C_TAD pfam_Sox_C_TAD,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX17 HGNC ENSG00000164736 17 0 0 17 5 22.7273 TRPA1 0 genome.wustl.edu 37 8 72951146 72951146 + Missense_Mutation SNP C C A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 8 72951146 72951146 C A SNP TRPA1 ENST00000262209 human ensembl 74_37 -1 known missense c.2249 p.G750V 0.995 NULL pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 57 0 0 57 7 10.9375 TDRD7 0 genome.wustl.edu 37 9 100257957 100257957 + Missense_Mutation SNP A A G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 9 100257957 100257957 A G SNP TDRD7 ENST00000355295 human ensembl 74_37 +1 known missense c.3089 p.N1030S 0.001 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD7 HGNC ENSG00000196116 161 0 0 138 15 9.80392 SVEP1 0 genome.wustl.edu 37 9 113265372 113265372 + Missense_Mutation SNP T T C TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 9 113265372 113265372 T C SNP SVEP1 ENST00000401783 human ensembl 74_37 -1 known missense c.1429 p.K477E 0.971 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 78 0 0 73 25 25.5102 TLR4 0 genome.wustl.edu 37 9 120475724 120475724 + Missense_Mutation SNP T T G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 9 120475724 120475724 T G SNP TLR4 ENST00000355622 human ensembl 74_37 +1 known missense c.1318 p.F440V 0.392 pirsf_Toll-like_receptor,smart_Leu-rich_rpt_typical-subtyp pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR4 HGNC ENSG00000136869 96 0 0 78 15 16.129 C5 0 genome.wustl.edu 37 9 123785724 123785724 + Silent SNP A A C TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 9 123785724 123785724 A C SNP C5 ENST00000223642 human ensembl 74_37 -1 known silent c.1074 p.A358 0.996 NULL pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn_comp_syst_dom - no_errors C5 HGNC ENSG00000106804 147 0 0 120 35 22.5806 CA9 0 genome.wustl.edu 37 9 35680798 35680798 + Missense_Mutation SNP T T C TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 9 35680798 35680798 T C SNP CA9 ENST00000378357 human ensembl 74_37 +1 known missense c.1286 p.V429A 0.014 NULL pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA9 HGNC ENSG00000107159 92 0 0 89 5 5.31915 ZNF484 0 genome.wustl.edu 37 9 95609461 95609461 + Silent SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 9 95609461 95609461 C T SNP ZNF484 ENST00000395506 human ensembl 74_37 -1 known silent c.1614 p.K538 0.009 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 ZNF484 HGNC ENSG00000127081 165 0 0 160 19 10.6145 PTCH1 0 genome.wustl.edu 37 9 98240429 98240429 + Missense_Mutation SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 9 98240429 98240429 C T SNP PTCH1 ENST00000331920 human ensembl 74_37 -1 known missense c.1255 p.V419M 1.000 pfam_Patched,tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC ENSG00000185920 84 0 0 90 16 15.0943 GUCY2F 0 genome.wustl.edu 37 X 108635293 108635293 + Silent SNP T T C TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 X 108635293 108635293 T C SNP GUCY2F ENST00000218006 human ensembl 74_37 -1 known silent c.2628 p.E876 0.997 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Haem_no_assoc-bd,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors GUCY2F HGNC ENSG00000101890 92 0 0 79 17 17.7083 UTP14A 0 genome.wustl.edu 37 X 129060230 129060230 + Missense_Mutation SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 X 129060230 129060230 C T SNP UTP14A ENST00000394422 human ensembl 74_37 +1 known missense c.1958 p.A653V 1.000 pfam_SSU_processome_Utp14 pfam_SSU_processome_Utp14 - no_errors UTP14A HGNC ENSG00000156697 91 0 0 75 7 8.53659 MAGEC3 0 genome.wustl.edu 37 X 140953351 140953351 + Missense_Mutation SNP A A T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 X 140953351 140953351 A T SNP MAGEC3 ENST00000298296 human ensembl 74_37 +1 known missense c.218 p.Q73L 0.001 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC3 HGNC ENSG00000165509 132 0 0 95 41 30.1471 MIR506 0 genome.wustl.edu 37 X 146312299 146312299 + RNA SNP T T C TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 X 146312299 146312299 T C SNP MIR506 ENST00000384998 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR506 HGNC ENSG00000207731 103 0 0 112 13 10.4 GABRA3 0 genome.wustl.edu 37 X 151358276 151358276 + Missense_Mutation SNP C C A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 X 151358276 151358276 C A SNP GABRA3 ENST00000370314 human ensembl 74_37 -1 known missense c.1069 p.A357S 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa3_rcpt,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRA3 HGNC ENSG00000011677 104 0 0 77 36 31.8584 F8 0 genome.wustl.edu 37 X 154225313 154225313 + Missense_Mutation SNP T T G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 X 154225313 154225313 T G SNP F8 ENST00000360256 human ensembl 74_37 -1 known missense c.323 p.K108T 1.000 pfam_Cu-oxidase_3,superfamily_Cupredoxin pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC ENSG00000185010 203 0 0 165 23 12.234 ASMTL 0 genome.wustl.edu 37 X 1557992 1557992 + Missense_Mutation SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 X 1557992 1557992 C T SNP ASMTL ENST00000381317 human ensembl 74_37 -1 known missense c.271 p.V91M 1.000 pfam_Maf,tigrfam_Maf pfam_Maf,pfam_O_MeTrfase_2,tigrfam_Maf - no_errors ASMTL HGNC ENSG00000169093 151 0 0 94 14 12.963 DMD 0 genome.wustl.edu 37 X 32366552 32366552 + Missense_Mutation SNP G G T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 X 32366552 32366552 G T SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.5419 p.L1807M 1.000 smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 43 0 0 34 5 12.8205 DMD 0 genome.wustl.edu 37 X 32583888 32583888 + Missense_Mutation SNP T T G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 X 32583888 32583888 T G SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.1923 p.E641D 1.000 smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 120 0 0 85 31 26.7241 DGKK 0 genome.wustl.edu 37 X 50111946 50111946 + RNA SNP T T G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 X 50111946 50111946 T G SNP DGKK ENST00000376025 human ensembl 74_37 -1 known rna NULL NULL 0.014 - - - no_errors DGKK HGNC ENSG00000204466 41 0 0 25 5 16.6667 MTMR8 0 genome.wustl.edu 37 X 63444310 63444310 + Missense_Mutation SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 X 63444310 63444310 C T SNP MTMR8 ENST00000453546 human ensembl 74_37 -1 known missense c.1987 p.V663I 0.946 pfam_SOCS_C,smart_SOCS_C pfam_Myotubularin-like_Pase_dom,pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors MTMR8 HGNC ENSG00000102043 51 0 0 50 16 24.2424 AR 0 genome.wustl.edu 37 X 66765645 66765645 + Silent SNP T T G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 X 66765645 66765645 T G SNP AR ENST00000374690 human ensembl 74_37 +1 known silent c.657 p.T219 0.095 pfam_Andrgn_rcpt,prints_Andrgn_rcpt pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt - no_errors AR HGNC ENSG00000169083 66 0 0 53 11 17.1875 AR 0 genome.wustl.edu 37 X 66766242 66766242 + Silent SNP T T A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 X 66766242 66766242 T A SNP AR ENST00000374690 human ensembl 74_37 +1 known silent c.1254 p.G418 0.100 pfam_Andrgn_rcpt pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt - no_errors AR HGNC ENSG00000169083 14 0 0 14 4 22.2222 MED12 0 genome.wustl.edu 37 X 70361778 70361778 + Missense_Mutation SNP G G A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 X 70361778 70361778 G A SNP MED12 ENST00000333646 human ensembl 74_37 +1 known missense c.6463 p.A2155T 1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12 - no_errors MED12 HGNC ENSG00000184634 61 0 0 40 8 16.6667 LPAR4 0 genome.wustl.edu 37 X 78011061 78011061 + Missense_Mutation SNP G G A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 X 78011061 78011061 G A SNP LPAR4 ENST00000435339 human ensembl 74_37 +1 known missense c.695 p.R232H 0.994 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_GPCR_Rhodpsn - no_errors LPAR4 HGNC ENSG00000147145 50 0 0 55 7 11.2903 PCDH11X 0 genome.wustl.edu 37 X 91133203 91133203 + Missense_Mutation SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 X 91133203 91133203 C T SNP PCDH11X ENST00000373094 human ensembl 74_37 +1 known missense c.1964 p.S655L 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 72 0 0 90 19 17.4312 NEK8 0 genome.wustl.edu 37 17 27068495 27068496 + Frame_Shift_Ins INS - - G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 17 27068495 27068496 - G INS NEK8 ENST00000268766 human ensembl 74_37 +1 known frame_shift_ins c.1956_1957 p.L653fs 0.041:0.996 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Prot_kinase_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_RCC1/BLIP-II,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_dom,prints_Reg_chr_condens,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK8 HGNC ENSG00000160602 108 0 0 68 19 21.8391 PARD3B 0 genome.wustl.edu 37 2 206165333 206165334 + Frame_Shift_Ins INS - - GA TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 2 206165333 206165334 - GA INS PARD3B ENST00000406610 human ensembl 74_37 +1 known frame_shift_ins c.2265_2266 p.V756fs 0.001:1.000 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3B HGNC ENSG00000116117 169 0 0 153 32 17.2973 UGT2B28 0 genome.wustl.edu 37 4 70146541 70146542 + Frame_Shift_Ins INS - - G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 4 70146541 70146542 - G INS UGT2B28 ENST00000335568 human ensembl 74_37 +1 known frame_shift_ins c.323_324 p.Y108fs 0.000:0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B28 HGNC ENSG00000135226 58 0 0 54 16 22.8571 FILIP1 0 genome.wustl.edu 37 6 76022220 76022222 + In_Frame_Del DEL GAA GAA - TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 6 76022220 76022222 GAA - DEL FILIP1 ENST00000237172 human ensembl 74_37 -1 known in_frame_del c.3328_3326 p.L1109in_frame_del 1.000:0.993:1.000 NULL pfam_Cortactin-binding_p2_N,prints_Tropomyosin - no_errors FILIP1 HGNC ENSG00000118407 181 0 0 145 25 14.7059