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 FNDC7 0 genome.wustl.edu 37 1 109265047 109265047 + Missense_Mutation SNP A A T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 1 109265047 109265047 A T SNP FNDC7 ENST00000271311 human ensembl 74_37 +1 known missense c.692 p.N231I 0.970 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC7 HGNC ENSG00000143107 53 0 0 36 10 21.7391 VPS13D 0 genome.wustl.edu 37 1 12337907 12337907 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 1 12337907 12337907 G A SNP VPS13D ENST00000358136 human ensembl 74_37 +1 known missense c.4262 p.R1421H 0.978 NULL pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 89 0 0 69 56 44.8 DHRS3 0 genome.wustl.edu 37 1 12677213 12677213 + Silent SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 1 12677213 12677213 C T SNP DHRS3 ENST00000376223 human ensembl 74_37 -1 known silent c.141 p.G47 0.969 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Polysac_CapD-like,smart_PKS/FAS_KR,prints_Glc/ribitol_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Polysac_CapD-like,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors DHRS3 HGNC ENSG00000162496 136 0 0 80 75 48.3871 PRDM2 0 genome.wustl.edu 37 1 14108601 14108601 + Silent SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 1 14108601 14108601 C T SNP PRDM2 ENST00000235372 human ensembl 74_37 +1 known silent c.4311 p.N1437 0.995 pirsf_RIZ_retinblastoma-bd_prot pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM2 HGNC ENSG00000116731 238 0 0 205 147 41.7614 SPRR1B 0 genome.wustl.edu 37 1 153005026 153005026 + Missense_Mutation SNP G G T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 1 153005026 153005026 G T SNP SPRR1B ENST00000307098 human ensembl 74_37 +1 known missense c.205 p.V69L 0.983 pfam_Cornifin pfam_Cornifin - no_errors SPRR1B HGNC ENSG00000169469 249 0 0 205 75 26.7857 IQGAP3 0 genome.wustl.edu 37 1 156524160 156524160 + Missense_Mutation SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 1 156524160 156524160 C T SNP IQGAP3 ENST00000361170 human ensembl 74_37 -1 known missense c.1315 p.V439M 1.000 NULL pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP - no_errors IQGAP3 HGNC ENSG00000183856 71 0 0 64 14 17.9487 SPTA1 0 genome.wustl.edu 37 1 158627279 158627279 + Missense_Mutation SNP T T G TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 1 158627279 158627279 T G SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.2793 p.E931D 0.999 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 97 0 0 33 128 79.5031 DCAF6 0 genome.wustl.edu 37 1 167944108 167944108 + Missense_Mutation SNP T T C TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 1 167944108 167944108 T C SNP DCAF6 ENST00000367840 human ensembl 74_37 +1 known missense c.293 p.F98S 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_IQ_motif_EF-hand-BS,pfscan_WD40_repeat_dom - no_errors DCAF6 HGNC ENSG00000143164 74 0 0 100 6 5.66038 RGS18 0 genome.wustl.edu 37 1 192153619 192153619 + Nonsense_Mutation SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 1 192153619 192153619 C T SNP RGS18 ENST00000367460 human ensembl 74_37 +1 known nonsense c.643 p.R215* 1.000 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS18 HGNC ENSG00000150681 57 0 0 68 21 23.5955 KCNT2 0 genome.wustl.edu 37 1 196250003 196250003 + Missense_Mutation SNP A A T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 1 196250003 196250003 A T SNP KCNT2 ENST00000294725 human ensembl 74_37 -1 known missense c.2897 p.L966H 0.977 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT2 HGNC ENSG00000162687 42 0 0 45 16 26.2295 CFH 0 genome.wustl.edu 37 1 196684775 196684775 + Silent SNP A A G TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 1 196684775 196684775 A G SNP CFH ENST00000367429 human ensembl 74_37 +1 known silent c.1572 p.T524 0.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFH HGNC ENSG00000000971 111 0 0 40 98 71.0145 CFHR5 0 genome.wustl.edu 37 1 196971772 196971772 + Nonsense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 1 196971772 196971772 G A SNP CFHR5 ENST00000367414 human ensembl 74_37 +1 known nonsense c.1380 p.W460* 0.676 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR5 HGNC ENSG00000134389 22 0 0 39 5 11.3636 PPP1R12B 0 genome.wustl.edu 37 1 202544208 202544208 + Nonsense_Mutation SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 1 202544208 202544208 C T SNP PPP1R12B ENST00000367270 human ensembl 74_37 +1 known nonsense c.619 p.R207* 1.000 NULL NULL - no_errors PPP1R12B HGNC ENSG00000077157 109 0 0 98 47 32.4138 PIK3C2B 0 genome.wustl.edu 37 1 204413547 204413547 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 1 204413547 204413547 G A SNP PIK3C2B ENST00000367187 human ensembl 74_37 -1 known missense c.2684 p.P895L 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2B HGNC ENSG00000133056 37 0 0 47 4 7.84314 DIEXF 0 genome.wustl.edu 37 1 210012275 210012275 + Missense_Mutation SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 1 210012275 210012275 C T SNP DIEXF ENST00000491415 human ensembl 74_37 +1 known missense c.1084 p.R362W 1.000 pfam_Digest_organ_expansion_fac-prd,superfamily_P-loop_NTPase pfam_Digest_organ_expansion_fac-prd,superfamily_P-loop_NTPase - no_errors DIEXF HGNC ENSG00000117597 221 1 0.45045 214 58 21.3235 USH2A 0 genome.wustl.edu 37 1 216462716 216462716 + Missense_Mutation SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 1 216462716 216462716 C T SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.1877 p.R626Q 0.997 pfam_EGF_laminin,smart_EGF_laminin pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 71 0 0 88 26 22.807 NUP133 0 genome.wustl.edu 37 1 229619858 229619858 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 1 229619858 229619858 G A SNP NUP133 ENST00000261396 human ensembl 74_37 -1 known missense c.1535 p.T512I 0.004 NULL pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N - no_errors NUP133 HGNC ENSG00000069248 32 0 0 41 14 25.4545 LUZP1 0 genome.wustl.edu 37 1 23415425 23415425 + Missense_Mutation SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 1 23415425 23415425 C T SNP LUZP1 ENST00000302291 human ensembl 74_37 -1 known missense c.3194 p.R1065Q 0.386 NULL NULL - no_errors LUZP1 HGNC ENSG00000169641 97 0 0 91 82 47.3988 RYR2 0 genome.wustl.edu 37 1 237619942 237619942 + Missense_Mutation SNP G G T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 1 237619942 237619942 G T SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.1513 p.V505F 0.717 pfam_Ca-rel_channel pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 105 0 0 84 24 22.2222 RPS6KA1 0 genome.wustl.edu 37 1 26888072 26888072 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 1 26888072 26888072 G A SNP RPS6KA1 ENST00000531382 human ensembl 74_37 +1 known missense c.1535 p.R512Q 0.998 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RPS6KA1 HGNC ENSG00000117676 156 0 0 123 13 9.55882 BMP8B 0 genome.wustl.edu 37 1 40253912 40253912 + Silent SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 1 40253912 40253912 G A SNP BMP8B ENST00000372827 human ensembl 74_37 -1 known silent c.246 p.H82 1.000 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu - no_errors BMP8B HGNC ENSG00000116985 24 0 0 22 8 26.6667 MUTYH 0 genome.wustl.edu 37 1 45799143 45799143 + Missense_Mutation SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 1 45799143 45799143 C T SNP MUTYH ENST00000450313 human ensembl 74_37 -1 known missense c.290 p.R97Q 0.986 superfamily_DNA_glycosylase pfam_HhH-GPD_domain,superfamily_DNA_glycosylase,superfamily_NUDIX_hydrolase_dom-like,smart_HhH-GPD_domain,smart_Endouclease3_FeS-loop_motif - no_errors MUTYH HGNC ENSG00000132781 103 0 0 63 35 35.7143 HPSE2 0 genome.wustl.edu 37 10 100481490 100481490 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 10 100481490 100481490 G A SNP HPSE2 ENST00000370552 human ensembl 74_37 -1 known missense c.880 p.R294W 1.000 pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF - no_errors HPSE2 HGNC ENSG00000172987 41 0 0 29 13 30.9524 PKD2L1 0 genome.wustl.edu 37 10 102051174 102051174 + Missense_Mutation SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 10 102051174 102051174 C T SNP PKD2L1 ENST00000318222 human ensembl 74_37 -1 known missense c.1891 p.A631T 0.000 NULL pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2,prints_PKD_1 - no_errors PKD2L1 HGNC ENSG00000107593 53 0 0 39 7 15.2174 PDCD11 0 genome.wustl.edu 37 10 105200216 105200216 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 10 105200216 105200216 G A SNP PDCD11 ENST00000369797 human ensembl 74_37 +1 known missense c.4318 p.E1440K 0.868 NULL pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1 - no_errors PDCD11 HGNC ENSG00000148843 42 0 0 25 16 39.0244 ZDHHC6 0 genome.wustl.edu 37 10 114194103 114194103 + Missense_Mutation SNP A A T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 10 114194103 114194103 A T SNP ZDHHC6 ENST00000369405 human ensembl 74_37 -1 known missense c.855 p.D285E 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfam_SH3_2,superfamily_SH3_domain,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC6 HGNC ENSG00000023041 57 0 0 46 12 20.6897 ACBD7 0 genome.wustl.edu 37 10 15120493 15120493 + RNA SNP A A C TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 10 15120493 15120493 A C SNP ACBD7 ENST00000496890 human ensembl 74_37 -1 known rna NULL NULL 0.034 - - - no_errors ACBD7 HGNC ENSG00000176244 68 0 0 54 17 23.9437 KIAA1217 0 genome.wustl.edu 37 10 24820922 24820922 + Missense_Mutation SNP G G T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 10 24820922 24820922 G T SNP KIAA1217 ENST00000376454 human ensembl 74_37 +1 known missense c.3246 p.K1082N 1.000 NULL pfam_AIP3_C - no_errors KIAA1217 HGNC ENSG00000120549 46 0 0 51 21 29.1667 TMEM72 0 genome.wustl.edu 37 10 45430339 45430339 + Missense_Mutation SNP G G T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 10 45430339 45430339 G T SNP TMEM72 ENST00000544540 human ensembl 74_37 +1 known missense c.231 p.K77N 0.022 NULL NULL - no_errors TMEM72 HGNC ENSG00000187783 326 0 0 288 19 6.18893 ATM 0 genome.wustl.edu 37 11 108199886 108199886 + Missense_Mutation SNP T T C TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 11 108199886 108199886 T C SNP ATM ENST00000278616 human ensembl 74_37 +1 known missense c.7228 p.F2410L 1.000 pfam_PIK-rel_kinase_FAT,superfamily_ARM-type_fold,pfscan_PIK_FAT pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 32 0 0 16 29 64.4444 C11orf65 0 genome.wustl.edu 37 11 108256664 108256664 + Missense_Mutation SNP G G T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 11 108256664 108256664 G T SNP C11orf65 ENST00000393084 human ensembl 74_37 -1 known missense c.770 p.S257Y 1.000 NULL NULL - no_errors C11orf65 HGNC ENSG00000166323 131 0 0 116 8 6.45161 POU2F3 0 genome.wustl.edu 37 11 120180168 120180168 + Missense_Mutation SNP T T C TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 11 120180168 120180168 T C SNP POU2F3 ENST00000260264 human ensembl 74_37 +1 known missense c.947 p.I316T 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU,prints_TF_octamer - no_errors POU2F3 HGNC ENSG00000137709 68 0 0 18 42 70 PARVA 0 genome.wustl.edu 37 11 12525930 12525930 + Missense_Mutation SNP C C G TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 11 12525930 12525930 C G SNP PARVA ENST00000334956 human ensembl 74_37 +1 known missense c.731 p.P244R 1.000 superfamily_CH-domain pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors PARVA HGNC ENSG00000197702 37 0 0 54 6 10 PAX6 0 genome.wustl.edu 37 11 31824271 31824271 + Missense_Mutation SNP T T A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 11 31824271 31824271 T A SNP PAX6 ENST00000379107 human ensembl 74_37 -1 known missense c.122 p.D41V 1.000 pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,prints_Paired_dom,pfscan_Paired_dom pfam_Paired_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,prints_Paired_dom,pfscan_Homeobox_dom,pfscan_Paired_dom - no_errors PAX6 HGNC ENSG00000007372 32 0 0 53 5 8.62069 MMP26 0 genome.wustl.edu 37 11 5010915 5010915 + Missense_Mutation SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 11 5010915 5010915 C T SNP MMP26 ENST00000300762 human ensembl 74_37 +1 known missense c.137 p.S46L 0.000 superfamily_Peptidoglycan-bd-like pfam_Pept_M10_metallopeptidase,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,prints_Pept_M10A - no_errors MMP26 HGNC ENSG00000167346 45 0 0 43 15 25.8621 OR4D6 0 genome.wustl.edu 37 11 59224503 59224503 + Missense_Mutation SNP G G C TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 11 59224503 59224503 G C SNP OR4D6 ENST00000300127 human ensembl 74_37 +1 known missense c.70 p.E24Q 0.002 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4D6 HGNC ENSG00000166884 124 0 0 127 16 11.1888 NRXN2 0 genome.wustl.edu 37 11 64416246 64416246 + Silent SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 11 64416246 64416246 G A SNP NRXN2 ENST00000265459 human ensembl 74_37 -1 known silent c.3243 p.D1081 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN2 HGNC ENSG00000110076 136 0 0 188 29 13.3641 SLC25A45 0 genome.wustl.edu 37 11 65144451 65144451 + Missense_Mutation SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 11 65144451 65144451 C T SNP SLC25A45 ENST00000398802 human ensembl 74_37 -1 known missense c.436 p.G146R 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A45 HGNC ENSG00000162241 90 0 0 113 13 10.3175 RBM14 0 genome.wustl.edu 37 11 66392900 66392900 + Missense_Mutation SNP C C G TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 11 66392900 66392900 C G SNP RBM14 ENST00000310137 human ensembl 74_37 +1 known missense c.1553 p.T518S 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM14 HGNC ENSG00000239306 110 0 0 240 13 5.13834 CABP4 0 genome.wustl.edu 37 11 67223873 67223873 + Missense_Mutation SNP G G C TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 11 67223873 67223873 G C SNP CABP4 ENST00000325656 human ensembl 74_37 +1 known missense c.501 p.E167D 1.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CABP4 HGNC ENSG00000175544 88 0 0 54 4 6.89655 PHOX2A 0 genome.wustl.edu 37 11 71954983 71954983 + Silent SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 11 71954983 71954983 G A SNP PHOX2A ENST00000298231 human ensembl 74_37 -1 known silent c.66 p.G22 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors PHOX2A HGNC ENSG00000165462 16 0 0 20 5 20 UBC 0 genome.wustl.edu 37 12 125396700 125396700 + Missense_Mutation SNP G G C TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 12 125396700 125396700 G C SNP UBC ENST00000339647 human ensembl 74_37 -1 known missense c.1618 p.L540V 0.981 pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors UBC HGNC ENSG00000150991 28 0 0 11 6 35.2941 UBC 0 genome.wustl.edu 37 12 125396928 125396928 + Missense_Mutation SNP G G C TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 12 125396928 125396928 G C SNP UBC ENST00000339647 human ensembl 74_37 -1 known missense c.1390 p.L464V 0.997 pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors UBC HGNC ENSG00000150991 24 0 0 23 7 23.3333 EP400 0 genome.wustl.edu 37 12 132479416 132479416 + Silent SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 12 132479416 132479416 C T SNP EP400 ENST00000333577 human ensembl 74_37 +1 known silent c.2850 p.D950 1.000 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 108 0 0 86 5 5.49451 KRAS 0 genome.wustl.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 12 25398285 25398285 C T SNP KRAS ENST00000256078 human ensembl 74_37 -1 known missense c.34 p.G12S 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors KRAS HGNC ENSG00000133703 22 0 0 15 20 57.1429 KRT7 0 genome.wustl.edu 37 12 52627391 52627391 + Missense_Mutation SNP C C G TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 12 52627391 52627391 C G SNP KRT7 ENST00000331817 human ensembl 74_37 +1 known missense c.311 p.S104C 1.000 pfam_IF pfam_IF,superfamily_Prefoldin,superfamily_Chorismate_mutase_type_II,prints_Keratin_II - no_errors KRT7 HGNC ENSG00000135480 157 0 0 128 27 17.4194 KRT8 0 genome.wustl.edu 37 12 53298786 53298786 + Missense_Mutation SNP C C A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 12 53298786 53298786 C A SNP KRT8 ENST00000552150 human ensembl 74_37 -1 putative missense c.64 p.A22S 0.031 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT8 HGNC ENSG00000170421 39 0 0 26 2 7.14286 ARHGAP9 0 genome.wustl.edu 37 12 57870956 57870956 + Missense_Mutation SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 12 57870956 57870956 C T SNP ARHGAP9 ENST00000356411 human ensembl 74_37 -1 known missense c.853 p.E285K 0.025 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_dom,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_dom,pfscan_RhoGAP_dom - no_errors ARHGAP9 HGNC ENSG00000123329 84 0 0 32 40 55.5556 XPOT 0 genome.wustl.edu 37 12 64816815 64816815 + Missense_Mutation SNP A A G TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 12 64816815 64816815 A G SNP XPOT ENST00000332707 human ensembl 74_37 +1 known missense c.1111 p.N371D 1.000 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors XPOT HGNC ENSG00000184575 33 0 0 45 14 23.7288 CHD4 0 genome.wustl.edu 37 12 6687229 6687229 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 12 6687229 6687229 G A SNP CHD4 ENST00000309577 human ensembl 74_37 -1 known missense c.5278 p.R1760W 0.999 pfam_CHD_C2 pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 123 0 0 70 36 33.9623 ZFC3H1 0 genome.wustl.edu 37 12 72038089 72038089 + Missense_Mutation SNP G G T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 12 72038089 72038089 G T SNP ZFC3H1 ENST00000378743 human ensembl 74_37 -1 known missense c.1289 p.A430E 0.981 NULL pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom - no_errors ZFC3H1 HGNC ENSG00000133858 15 0 0 21 2 8.69565 TPH2 0 genome.wustl.edu 37 12 72372834 72372834 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 12 72372834 72372834 G A SNP TPH2 ENST00000333850 human ensembl 74_37 +1 known missense c.908 p.R303Q 0.998 pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Trp_5_mOase pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase - no_errors TPH2 HGNC ENSG00000139287 208 0 0 185 62 25.1012 TPP2 0 genome.wustl.edu 37 13 103295691 103295691 + Nonsense_Mutation SNP G G T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 13 103295691 103295691 G T SNP TPP2 ENST00000376065 human ensembl 74_37 +1 known nonsense c.2140 p.E714* 1.000 NULL pfam_Peptidase_S8/S53_dom,pfam_Peptidase_S8A_TPPII,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel - no_errors TPP2 HGNC ENSG00000134900 22 0 0 20 2 9.09091 RNF17 0 genome.wustl.edu 37 13 25440297 25440297 + Missense_Mutation SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 13 25440297 25440297 C T SNP RNF17 ENST00000255324 human ensembl 74_37 +1 known missense c.4117 p.H1373Y 0.081 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING - no_errors RNF17 HGNC ENSG00000132972 58 0 0 61 21 25.6098 ATP8A2 0 genome.wustl.edu 37 13 26343356 26343356 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 13 26343356 26343356 G A SNP ATP8A2 ENST00000381655 human ensembl 74_37 +1 known missense c.2557 p.A853T 1.000 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8A2 HGNC ENSG00000132932 103 0 0 54 56 50.9091 WASF3 0 genome.wustl.edu 37 13 27216523 27216523 + Missense_Mutation SNP G G T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 13 27216523 27216523 G T SNP WASF3 ENST00000335327 human ensembl 74_37 +1 known missense c.116 p.R39L 1.000 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF3 HGNC ENSG00000132970 133 0 0 160 18 10.1124 LCP1 0 genome.wustl.edu 37 13 46718575 46718575 + Splice_Site SNP A A T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 13 46718575 46718575 A T SNP LCP1 ENST00000323076 human ensembl 74_37 -1 known splice_site c.1253+2 e10+2 1.000 - - - no_errors LCP1 HGNC ENSG00000136167 38 0 0 16 51 76.1194 PCDH8 0 genome.wustl.edu 37 13 53421450 53421450 + Silent SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 13 53421450 53421450 G A SNP PCDH8 ENST00000377942 human ensembl 74_37 -1 known silent c.1122 p.A374 0.078 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH8 HGNC ENSG00000136099 18 0 0 12 4 25 CDH24 0 genome.wustl.edu 37 14 23518308 23518308 + Missense_Mutation SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 14 23518308 23518308 C T SNP CDH24 ENST00000267383 human ensembl 74_37 -1 known missense c.1888 p.A630T 1.000 pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH24 HGNC ENSG00000139880 36 0 0 29 4 12.1212 NPAS3 0 genome.wustl.edu 37 14 34270262 34270262 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 14 34270262 34270262 G A SNP NPAS3 ENST00000356141 human ensembl 74_37 +1 known missense c.2749 p.V917I 0.981 NULL pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom - no_errors NPAS3 HGNC ENSG00000151322 17 0 0 12 7 36.8421 EML5 0 genome.wustl.edu 37 14 89130844 89130844 + Silent SNP A A G TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 14 89130844 89130844 A G SNP EML5 ENST00000554922 human ensembl 74_37 -1 known silent c.3402 p.D1134 0.047 superfamily_WD40_repeat_dom pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML5 HGNC ENSG00000165521 27 0 0 38 4 9.52381 SMEK1 0 genome.wustl.edu 37 14 91937312 91937312 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 14 91937312 91937312 G A SNP SMEK1 ENST00000554943 human ensembl 74_37 -1 known missense c.1529 p.A510V 1.000 superfamily_ARM-type_fold pfam_DUF625,superfamily_ARM-type_fold - no_errors SMEK1 HGNC ENSG00000100796 56 0 0 44 37 45.679 CATSPERB 0 genome.wustl.edu 37 14 92170986 92170986 + Missense_Mutation SNP A A G TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 14 92170986 92170986 A G SNP CATSPERB ENST00000256343 human ensembl 74_37 -1 known missense c.526 p.Y176H 0.213 NULL superfamily_Sialidases - no_errors CATSPERB HGNC ENSG00000133962 87 0 0 113 6 5.04202 UNC79 0 genome.wustl.edu 37 14 94063796 94063796 + Silent SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 14 94063796 94063796 C T SNP UNC79 ENST00000553484 human ensembl 74_37 +1 known silent c.3282 p.C1094 1.000 superfamily_ARM-type_fold superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 95 0 0 84 28 25 RYR3 0 genome.wustl.edu 37 15 33936587 33936587 + Missense_Mutation SNP A A G TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 15 33936587 33936587 A G SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.3632 p.K1211R 1.000 NULL pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 29 0 0 14 12 46.1538 SNX1 0 genome.wustl.edu 37 15 64422454 64422454 + Missense_Mutation SNP G G C TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 15 64422454 64422454 G C SNP SNX1 ENST00000559844 human ensembl 74_37 +1 known missense c.949 p.E317Q 1.000 pfam_Vps5_C pfam_Vps5_C,pfam_Sorting_nexin_N,pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX1 HGNC ENSG00000028528 45 0 0 44 11 20 RASGRF1 0 genome.wustl.edu 37 15 79339211 79339211 + Missense_Mutation SNP T T G TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 15 79339211 79339211 T G SNP RASGRF1 ENST00000419573 human ensembl 74_37 -1 known missense c.755 p.E252A 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF1 HGNC ENSG00000058335 126 0 0 130 30 18.75 CPEB1 0 genome.wustl.edu 37 15 83218272 83218272 + Missense_Mutation SNP T T G TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 15 83218272 83218272 T G SNP CPEB1 ENST00000562019 human ensembl 74_37 -1 known missense c.1352 p.N451T 0.998 pfscan_RRM_dom pfscan_RRM_dom - no_errors CPEB1 HGNC ENSG00000214575 93 0 0 144 16 10 MAN2A2 0 genome.wustl.edu 37 15 91459446 91459446 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 15 91459446 91459446 G A SNP MAN2A2 ENST00000360468 human ensembl 74_37 +1 known missense c.2954 p.R985H 0.946 pfam_Glyco_hydro_38_C,superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2A2 HGNC ENSG00000196547 155 0 0 276 51 15.5963 ROGDI 0 genome.wustl.edu 37 16 4849721 4849721 + Missense_Mutation SNP C C A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 16 4849721 4849721 C A SNP ROGDI ENST00000322048 human ensembl 74_37 -1 known missense c.398 p.S133I 0.998 pfam_RAVE2/Rogdi pfam_RAVE2/Rogdi - no_errors ROGDI HGNC ENSG00000067836 44 0 0 29 2 6.45161 ZNF423 0 genome.wustl.edu 37 16 49671081 49671081 + Missense_Mutation SNP T T G TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 16 49671081 49671081 T G SNP ZNF423 ENST00000262383 human ensembl 74_37 -1 known missense c.1982 p.K661T 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF423 HGNC ENSG00000102935 94 0 0 56 16 22.2222 SNX20 0 genome.wustl.edu 37 16 50709712 50709712 + Missense_Mutation SNP C C G TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 16 50709712 50709712 C G SNP SNX20 ENST00000330943 human ensembl 74_37 -1 known missense c.251 p.R84P 1.000 superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX20 HGNC ENSG00000167208 107 0 0 81 13 13.8298 MMP2 0 genome.wustl.edu 37 16 55519277 55519277 + Missense_Mutation SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 16 55519277 55519277 C T SNP MMP2 ENST00000219070 human ensembl 74_37 +1 known missense c.596 p.T199I 0.990 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A - no_errors MMP2 HGNC ENSG00000087245 139 0 0 153 27 15 CDH3 0 genome.wustl.edu 37 16 68718510 68718510 + Nonsense_Mutation SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 16 68718510 68718510 C T SNP CDH3 ENST00000264012 human ensembl 74_37 +1 known nonsense c.1207 p.Q403* 0.999 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH3 HGNC ENSG00000062038 383 0 0 324 96 22.8571 RBFOX1 0 genome.wustl.edu 37 16 7568167 7568167 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 16 7568167 7568167 G A SNP RBFOX1 ENST00000547372 human ensembl 74_37 +1 known missense c.175 p.A59T 1.000 pirsf_RNA-bd_Fox-1 pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom - no_errors RBFOX1 HGNC ENSG00000078328 328 0 0 267 16 5.65371 BCMO1 0 genome.wustl.edu 37 16 81298282 81298282 + Missense_Mutation SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 16 81298282 81298282 C T SNP BCMO1 ENST00000258168 human ensembl 74_37 +1 known missense c.509 p.T170M 1.000 pfam_Carotenoid_Oase pfam_Carotenoid_Oase - no_errors BCMO1 HGNC ENSG00000135697 91 0 0 82 23 21.9048 MSLN 0 genome.wustl.edu 37 16 817420 817420 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 16 817420 817420 G A SNP MSLN ENST00000382862 human ensembl 74_37 +1 known missense c.1570 p.V524M 0.015 pfam_Mesothelin pfam_Mesothelin - no_errors MSLN HGNC ENSG00000102854 219 0 0 123 21 14.5833 EVI2B 0 genome.wustl.edu 37 17 29631447 29631447 + Nonsense_Mutation SNP G G T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 17 29631447 29631447 G T SNP EVI2B ENST00000544462 human ensembl 74_37 -1 known nonsense c.1226 p.S409* 0.146 NULL NULL - no_errors EVI2B HGNC ENSG00000185862 72 0 0 108 28 20.5882 C17orf98 0 genome.wustl.edu 37 17 36991500 36991500 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 17 36991500 36991500 G A SNP C17orf98 ENST00000398575 human ensembl 74_37 -1 known missense c.407 p.P136L 1.000 NULL NULL - no_errors C17orf98 HGNC ENSG00000214556 105 0 0 108 34 23.9437 RUNDC1 0 genome.wustl.edu 37 17 41143004 41143004 + Silent SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 17 41143004 41143004 G A SNP RUNDC1 ENST00000361677 human ensembl 74_37 +1 known silent c.1113 p.R371 0.703 NULL pfam_Run,smart_Run,pfscan_Run - no_errors RUNDC1 HGNC ENSG00000198863 53 0 0 45 33 42.3077 FZD2 0 genome.wustl.edu 37 17 42636499 42636499 + Silent SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 17 42636499 42636499 C T SNP FZD2 ENST00000315323 human ensembl 74_37 +1 known silent c.1443 p.F481 1.000 pfam_Frizzled,pfscan_GPCR_2-like pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD2 HGNC ENSG00000180340 74 0 0 103 31 23.1343 NFE2L1 0 genome.wustl.edu 37 17 46128574 46128574 + Silent SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 17 46128574 46128574 C T SNP NFE2L1 ENST00000362042 human ensembl 74_37 +1 known silent c.94 p.L32 1.000 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2L1 HGNC ENSG00000082641 119 0 0 154 20 11.4943 BZRAP1 0 genome.wustl.edu 37 17 56386420 56386420 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 17 56386420 56386420 G A SNP BZRAP1 ENST00000355701 human ensembl 74_37 -1 known missense c.4213 p.R1405W 0.972 NULL pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain - no_errors BZRAP1 HGNC ENSG00000005379 201 0 0 191 54 22.0408 BZRAP1 0 genome.wustl.edu 37 17 56396519 56396519 + Missense_Mutation SNP A A G TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 17 56396519 56396519 A G SNP BZRAP1 ENST00000355701 human ensembl 74_37 -1 known missense c.1631 p.L544P 0.014 NULL pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain - no_errors BZRAP1 HGNC ENSG00000005379 8 0 0 9 3 25 RGS9 0 genome.wustl.edu 37 17 63200369 63200369 + Missense_Mutation SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 17 63200369 63200369 C T SNP RGS9 ENST00000262406 human ensembl 74_37 +1 known missense c.1153 p.R385C 1.000 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS9 HGNC ENSG00000108370 77 0 0 69 47 40.5172 AXIN2 0 genome.wustl.edu 37 17 63532604 63532604 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 17 63532604 63532604 G A SNP AXIN2 ENST00000307078 human ensembl 74_37 -1 known missense c.1975 p.R659W 0.995 NULL pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors AXIN2 HGNC ENSG00000168646 94 0 0 105 15 12.5 GPRC5C 0 genome.wustl.edu 37 17 72428204 72428204 + Silent SNP A A G TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 17 72428204 72428204 A G SNP GPRC5C ENST00000392627 human ensembl 74_37 +1 known silent c.27 p.Q9 0.768 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPRC5C HGNC ENSG00000170412 68 0 0 55 24 30.3797 TP53 0 genome.wustl.edu 37 17 7578403 7578403 + Missense_Mutation SNP C C A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 17 7578403 7578403 C A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.527 p.C176F 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 88 0 0 24 49 67.1233 SLC14A2 0 genome.wustl.edu 37 18 43262407 43262407 + Missense_Mutation SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 18 43262407 43262407 C T SNP SLC14A2 ENST00000255226 human ensembl 74_37 +1 known missense c.2686 p.R896C 1.000 NULL pfam_Urea_transporter - no_errors SLC14A2 HGNC ENSG00000132874 194 0 0 157 11 6.54762 DCC 0 genome.wustl.edu 37 18 50994343 50994343 + Missense_Mutation SNP G G T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 18 50994343 50994343 G T SNP DCC ENST00000442544 human ensembl 74_37 +1 known missense c.3699 p.K1233N 0.998 pfam_Neogenin_C pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DCC HGNC ENSG00000187323 85 0 0 74 22 22.9167 TRMT1 0 genome.wustl.edu 37 19 13226181 13226181 + Missense_Mutation SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 19 13226181 13226181 C T SNP TRMT1 ENST00000357720 human ensembl 74_37 -1 known missense c.553 p.A185T 1.000 pfam_TRM1,pfam_tRNA_Trfase_Trm5/Tyw2,tigrfam_TRM1 pfam_TRM1,pfam_Znf_CCCH,pfam_tRNA_Trfase_Trm5/Tyw2,smart_Znf_CCCH,tigrfam_TRM1 - no_errors TRMT1 HGNC ENSG00000104907 87 0 0 75 12 13.7931 ZNF430 0 genome.wustl.edu 37 19 21240536 21240536 + Silent SNP A A T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 19 21240536 21240536 A T SNP ZNF430 ENST00000261560 human ensembl 74_37 +1 known silent c.1422 p.A474 0.295 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 ZNF430 HGNC ENSG00000118620 58 0 0 49 6 10.9091 ANKRD27 0 genome.wustl.edu 37 19 33106644 33106644 + Missense_Mutation SNP C C A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 19 33106644 33106644 C A SNP ANKRD27 ENST00000306065 human ensembl 74_37 -1 known missense c.2095 p.A699S 0.002 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_VPS9,superfamily_Ankyrin_rpt-contain_dom,smart_VPS9_subgr,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_VPS9,prints_Ankyrin_rpt - no_errors ANKRD27 HGNC ENSG00000105186 107 0 0 56 50 47.1698 CEBPG 0 genome.wustl.edu 37 19 33870289 33870289 + Silent SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 19 33870289 33870289 C T SNP CEBPG ENST00000284000 human ensembl 74_37 +1 known silent c.144 p.P48 0.017 NULL pfam_bZIP,smart_bZIP,pfscan_bZIP - no_errors CEBPG HGNC ENSG00000153879 79 0 0 55 17 23.6111 ZNF566 0 genome.wustl.edu 37 19 36940522 36940522 + Missense_Mutation SNP C C A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 19 36940522 36940522 C A SNP ZNF566 ENST00000392170 human ensembl 74_37 -1 known missense c.617 p.G206V 0.998 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF566 HGNC ENSG00000186017 70 0 0 35 35 50 B9D2 0 genome.wustl.edu 37 19 41863923 41863923 + Missense_Mutation SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 19 41863923 41863923 C T SNP B9D2 ENST00000594416 human ensembl 74_37 -1 known missense c.188 p.R63Q 0.615 NULL pfam_B9_dom - no_errors B9D2 HGNC ENSG00000123810 72 0 0 42 41 49.3976 C5AR2 0 genome.wustl.edu 37 19 47844598 47844598 + Missense_Mutation SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 19 47844598 47844598 C T SNP C5AR2 ENST00000257267 human ensembl 74_37 +1 known missense c.542 p.P181L 0.021 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Anaphtx_C5AR1/C5AR2 - no_errors C5AR2 HGNC ENSG00000134830 112 0 0 75 34 31.1927 KPTN 0 genome.wustl.edu 37 19 47981013 47981013 + Silent SNP A A G TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 19 47981013 47981013 A G SNP KPTN ENST00000338134 human ensembl 74_37 -1 known silent c.813 p.D271 0.114 NULL NULL - no_errors KPTN HGNC ENSG00000118162 61 0 0 52 9 14.7541 SCAF1 0 genome.wustl.edu 37 19 50161535 50161535 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 19 50161535 50161535 G A SNP SCAF1 ENST00000360565 human ensembl 74_37 +1 known missense c.3818 p.R1273H 1.000 NULL NULL - no_errors SCAF1 HGNC ENSG00000126461 50 0 0 25 36 59.0164 ZNF320 0 genome.wustl.edu 37 19 53367302 53367302 + Nonsense_Mutation SNP C C A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 19 53367302 53367302 C A SNP ZNF320 ENST00000597909 human ensembl 74_37 -1 putative nonsense c.334 p.E112* 0.068 NULL pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF320 HGNC ENSG00000182986 68 0 0 43 42 49.4118 NLRP2 0 genome.wustl.edu 37 19 55494466 55494466 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 19 55494466 55494466 G A SNP NLRP2 ENST00000448584 human ensembl 74_37 +1 known missense c.1400 p.R467Q 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP2 HGNC ENSG00000022556 117 0 0 79 65 45.1389 NLRP13 0 genome.wustl.edu 37 19 56419255 56419255 + Missense_Mutation SNP G G C TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 19 56419255 56419255 G C SNP NLRP13 ENST00000342929 human ensembl 74_37 -1 known missense c.2350 p.L784V 0.675 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP13 HGNC ENSG00000173572 174 0 0 98 109 52.657 MUC16 0 genome.wustl.edu 37 19 9010994 9010994 + Missense_Mutation SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 19 9010994 9010994 C T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.38924 p.R12975Q 0.001 smart_SEA_dom pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 185 0 0 131 36 21.5569 MUC16 0 genome.wustl.edu 37 19 9073053 9073053 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 19 9073053 9073053 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.14393 p.T4798I 0.001 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 46 0 0 27 11 28.9474 MUC16 0 genome.wustl.edu 37 19 9076960 9076960 + Missense_Mutation SNP C C G TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 19 9076960 9076960 C G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.10486 p.E3496Q 0.041 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 99 0 0 60 27 31.0345 MAP4K4 0 genome.wustl.edu 37 2 102460759 102460759 + Nonsense_Mutation SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 2 102460759 102460759 C T SNP MAP4K4 ENST00000324219 human ensembl 74_37 +1 known nonsense c.1219 p.R407* 0.998 NULL pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors MAP4K4 HGNC ENSG00000071054 14 0 0 15 4 21.0526 RGPD4 0 genome.wustl.edu 37 2 108477264 108477264 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 2 108477264 108477264 G A SNP RGPD4 ENST00000354986 human ensembl 74_37 +1 known missense c.1801 p.G601R 1.000 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC ENSG00000196862 115 1 0.862069 142 18 11.25 ZC3H6 0 genome.wustl.edu 37 2 113088794 113088794 + Missense_Mutation SNP G G T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 2 113088794 113088794 G T SNP ZC3H6 ENST00000343936 human ensembl 74_37 +1 known missense c.2299 p.D767Y 0.883 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H6 HGNC ENSG00000188177 54 0 0 43 19 30.6452 CCDC74B 0 genome.wustl.edu 37 2 130897230 130897230 + Silent SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 2 130897230 130897230 G A SNP CCDC74B ENST00000392984 human ensembl 74_37 -1 known silent c.1347 p.A449 0.616 NULL NULL - no_errors CCDC74B HGNC ENSG00000152076 47 0 0 21 35 62.5 NCKAP5 0 genome.wustl.edu 37 2 133540023 133540023 + Missense_Mutation SNP G G T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 2 133540023 133540023 G T SNP NCKAP5 ENST00000317721 human ensembl 74_37 -1 known missense c.4361 p.A1454D 0.000 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 51 0 0 56 18 24.3243 LCT 0 genome.wustl.edu 37 2 136566344 136566344 + Missense_Mutation SNP C C A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 2 136566344 136566344 C A SNP LCT ENST00000264162 human ensembl 74_37 -1 known missense c.3573 p.E1191D 0.996 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCT HGNC ENSG00000115850 159 0 0 108 98 47.5728 NBAS 0 genome.wustl.edu 37 2 15614226 15614226 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 2 15614226 15614226 G A SNP NBAS ENST00000281513 human ensembl 74_37 -1 known missense c.1564 p.R522C 1.000 NULL pfam_Sec39,superfamily_Quino_amine_DH_bsu - no_errors NBAS HGNC ENSG00000151779 97 0 0 74 22 22.9167 TANC1 0 genome.wustl.edu 37 2 160086925 160086925 + Missense_Mutation SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 2 160086925 160086925 C T SNP TANC1 ENST00000263635 human ensembl 74_37 +1 known missense c.4988 p.S1663L 0.742 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC1 HGNC ENSG00000115183 110 0 0 63 78 55.3191 FAP 0 genome.wustl.edu 37 2 163029701 163029701 + Missense_Mutation SNP A A T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 2 163029701 163029701 A T SNP FAP ENST00000188790 human ensembl 74_37 -1 known missense c.2065 p.F689I 1.000 pfam_Peptidase_S9 pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors FAP HGNC ENSG00000078098 64 0 0 50 15 23.0769 TTN 0 genome.wustl.edu 37 2 179432952 179432952 + Missense_Mutation SNP G G T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 2 179432952 179432952 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.70203 p.N23401K 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 130 1 0.763359 146 36 19.7802 TTN 0 genome.wustl.edu 37 2 179452058 179452058 + Missense_Mutation SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 2 179452058 179452058 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.56176 p.G18726S 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 31 0 0 22 28 56 TTN 0 genome.wustl.edu 37 2 179584366 179584366 + Silent SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 2 179584366 179584366 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.20121 p.A6707 0.990 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 114 0 0 80 110 57.8947 DNAH7 0 genome.wustl.edu 37 2 196729451 196729451 + Missense_Mutation SNP G G T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 2 196729451 196729451 G T SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known missense c.6928 p.P2310T 0.056 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 121 0 0 133 59 30.7292 SLC4A3 0 genome.wustl.edu 37 2 220504270 220504270 + Silent SNP C C A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 2 220504270 220504270 C A SNP SLC4A3 ENST00000273063 human ensembl 74_37 +1 known silent c.3171 p.L1057 0.803 pfam_HCO3_transpt_C,prints_Anion_exchange,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk - no_errors SLC4A3 HGNC ENSG00000114923 120 0 0 70 19 21.3483 ACKR3 0 genome.wustl.edu 37 2 237489880 237489880 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 2 237489880 237489880 G A SNP ACKR3 ENST00000272928 human ensembl 74_37 +1 known missense c.772 p.V258M 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR7,prints_GPCR_Rhodpsn,prints_ATII_rcpt,prints_Formyl_pep_rcpt - no_errors ACKR3 HGNC ENSG00000144476 155 0 0 69 75 52.0833 RBM44 0 genome.wustl.edu 37 2 238726967 238726967 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 2 238726967 238726967 G A SNP RBM44 ENST00000316997 human ensembl 74_37 +1 known missense c.1408 p.D470N 0.994 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM44 HGNC ENSG00000177483 77 0 0 69 18 20.6897 PER2 0 genome.wustl.edu 37 2 239161666 239161666 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 2 239161666 239161666 G A SNP PER2 ENST00000254657 human ensembl 74_37 -1 known missense c.2998 p.P1000S 0.914 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PER2 HGNC ENSG00000132326 125 0 0 101 27 21.0938 ALK 0 genome.wustl.edu 37 2 29462633 29462633 + Silent SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 2 29462633 29462633 G A SNP ALK ENST00000389048 human ensembl 74_37 -1 known silent c.2268 p.G756 0.987 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ALK HGNC ENSG00000171094 86 0 0 36 15 29.4118 PRKCE 0 genome.wustl.edu 37 2 46411945 46411945 + Silent SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 2 46411945 46411945 C T SNP PRKCE ENST00000306156 human ensembl 74_37 +1 known silent c.2139 p.D713 0.935 pfam_Pkinase_C,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKCE HGNC ENSG00000171132 78 0 0 62 37 37.3737 SOCS5 0 genome.wustl.edu 37 2 46987047 46987047 + Missense_Mutation SNP A A G TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 2 46987047 46987047 A G SNP SOCS5 ENST00000306503 human ensembl 74_37 +1 known missense c.1378 p.K460E 1.000 smart_SH2,pfscan_SH2 pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS5 HGNC ENSG00000171150 101 0 0 69 38 35.514 ENSG00000273064 0 genome.wustl.edu 37 2 68480207 68480207 + RNA SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 2 68480207 68480207 C T SNP ENSG00000273064 ENST00000608069 human ensembl 74_37 +1 known rna NULL NULL 0.010 - - - no_errors RP11-474G23.3 Clone_based_vega_gene ENSG00000273064 52 0 0 46 24 34.2857 CTNNA2 0 genome.wustl.edu 37 2 80773040 80773040 + Missense_Mutation SNP T T A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 2 80773040 80773040 T A SNP CTNNA2 ENST00000361291 human ensembl 74_37 +1 known missense c.1494 p.N498K 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 44 0 0 46 8 14.8148 ADRA2B 0 genome.wustl.edu 37 2 96780826 96780826 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 2 96780826 96780826 G A SNP ADRA2B ENST00000409345 human ensembl 74_37 -1 known missense c.1063 p.R355C 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA2B_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA2B_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRA2B HGNC ENSG00000222040 43 0 0 26 4 13.3333 CST2 0 genome.wustl.edu 37 20 23805914 23805914 + Missense_Mutation SNP G G T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 20 23805914 23805914 G T SNP CST2 ENST00000304725 human ensembl 74_37 -1 known missense c.275 p.T92N 0.925 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST2 HGNC ENSG00000170369 217 0 0 224 95 29.7806 SLC4A11 0 genome.wustl.edu 37 20 3218214 3218214 + Nonsense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 20 3218214 3218214 G A SNP SLC4A11 ENST00000380059 human ensembl 74_37 -1 known nonsense c.193 p.Q65* 0.694 NULL pfam_HCO3_transpt_C,pfam_PTS_EIIA_type-2_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk - no_errors SLC4A11 HGNC ENSG00000088836 143 0 0 144 42 22.5806 SMOX 0 genome.wustl.edu 37 20 4163097 4163097 + Missense_Mutation SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 20 4163097 4163097 C T SNP SMOX ENST00000305958 human ensembl 74_37 +1 known missense c.971 p.P324L 0.979 pfam_Amino_oxidase pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom - no_errors SMOX HGNC ENSG00000088826 131 0 0 68 63 48.0916 TSHZ2 0 genome.wustl.edu 37 20 51871962 51871962 + Missense_Mutation SNP G G T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 20 51871962 51871962 G T SNP TSHZ2 ENST00000371497 human ensembl 74_37 +1 known missense c.1965 p.E655D 0.992 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ2 HGNC ENSG00000182463 95 0 0 214 12 5.30973 CDH26 0 genome.wustl.edu 37 20 58570907 58570907 + Missense_Mutation SNP A A C TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 20 58570907 58570907 A C SNP CDH26 ENST00000244047 human ensembl 74_37 +1 known missense c.1686 p.L562F 0.000 superfamily_Cadherin-like pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH26 HGNC ENSG00000124215 44 0 0 96 14 12.7273 FAM110A 0 genome.wustl.edu 37 20 825521 825521 + Missense_Mutation SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 20 825521 825521 C T SNP FAM110A ENST00000246100 human ensembl 74_37 +1 known missense c.74 p.P25L 1.000 NULL NULL - no_errors FAM110A HGNC ENSG00000125898 16 0 0 3 6 66.6667 BCR 0 genome.wustl.edu 37 22 23656786 23656786 + Missense_Mutation SNP C C G TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 22 23656786 23656786 C G SNP BCR ENST00000305877 human ensembl 74_37 +1 known missense c.3611 p.A1204G 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Bcr-Abl_oncoprot_oligo,pfam_DH-domain,pfam_C2_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_Bcr-Abl_oncoprot_oligo,superfamily_C2_dom,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RhoGAP_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain - no_errors BCR HGNC ENSG00000186716 64 0 0 47 7 12.963 BCR 0 genome.wustl.edu 37 22 23656790 23656790 + Silent SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 22 23656790 23656790 G A SNP BCR ENST00000305877 human ensembl 74_37 +1 known silent c.3615 p.T1205 0.194 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Bcr-Abl_oncoprot_oligo,pfam_DH-domain,pfam_C2_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_Bcr-Abl_oncoprot_oligo,superfamily_C2_dom,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RhoGAP_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain - no_errors BCR HGNC ENSG00000186716 63 0 0 48 7 12.7273 TBC1D10A 0 genome.wustl.edu 37 22 30689913 30689913 + Nonsense_Mutation SNP C C A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 22 30689913 30689913 C A SNP TBC1D10A ENST00000215790 human ensembl 74_37 -1 known nonsense c.892 p.E298* 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D10A HGNC ENSG00000099992 89 0 0 76 18 19.1489 PANX2 0 genome.wustl.edu 37 22 50615660 50615660 + Silent SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 22 50615660 50615660 G A SNP PANX2 ENST00000395842 human ensembl 74_37 +1 known silent c.519 p.A173 0.004 pfam_Innexin,pfscan_Innexin pfam_Innexin,pfscan_Innexin - no_errors PANX2 HGNC ENSG00000073150 42 0 0 32 14 30.4348 NXPE3 0 genome.wustl.edu 37 3 101540691 101540691 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 3 101540691 101540691 G A SNP NXPE3 ENST00000273347 human ensembl 74_37 +1 known missense c.1573 p.E525K 1.000 NULL pfam_NXPH/NXPE,superfamily_Ig_E-set - no_errors NXPE3 HGNC ENSG00000144815 111 0 0 40 80 66.6667 BBX 0 genome.wustl.edu 37 3 107435518 107435518 + Missense_Mutation SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 3 107435518 107435518 C T SNP BBX ENST00000325805 human ensembl 74_37 +1 known missense c.227 p.P76L 1.000 superfamily_HMG_box_dom pfam_TF_HMG_box_BBX_DUF2028,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors BBX HGNC ENSG00000114439 101 0 0 63 39 38.2353 GP9 0 genome.wustl.edu 37 3 128780765 128780765 + Missense_Mutation SNP C C G TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 3 128780765 128780765 C G SNP GP9 ENST00000307395 human ensembl 74_37 +1 known missense c.183 p.N61K 1.000 NULL pfam_LRR-contain_N,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C - no_errors GP9 HGNC ENSG00000169704 55 0 0 71 7 8.97436 PRR23B 0 genome.wustl.edu 37 3 138739150 138739150 + Silent SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 3 138739150 138739150 C T SNP PRR23B ENST00000329447 human ensembl 74_37 -1 known silent c.354 p.S118 0.000 pfam_UPF0572 pfam_UPF0572 - no_errors PRR23B HGNC ENSG00000184814 101 0 0 19 55 74.3243 MME 0 genome.wustl.edu 37 3 154886304 154886304 + Missense_Mutation SNP G G C TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 3 154886304 154886304 G C SNP MME ENST00000360490 human ensembl 74_37 +1 known missense c.1804 p.D602H 0.999 pfam_Peptidase_M13_C pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors MME HGNC ENSG00000196549 41 0 0 54 13 19.403 FNDC3B 0 genome.wustl.edu 37 3 171965381 171965381 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 3 171965381 171965381 G A SNP FNDC3B ENST00000336824 human ensembl 74_37 +1 known missense c.323 p.C108Y 1.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC3B HGNC ENSG00000075420 145 0 0 150 125 45.4545 SATB1 0 genome.wustl.edu 37 3 18435984 18435984 + Silent SNP T T C TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 3 18435984 18435984 T C SNP SATB1 ENST00000417717 human ensembl 74_37 -1 known silent c.1176 p.V392 0.934 pfam_Hmoeo_CUT,superfamily_Lambda_DNA-bd_dom,pfscan_Hmoeo_CUT pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors SATB1 HGNC ENSG00000182568 145 0 0 75 54 41.8605 EIF4A2 0 genome.wustl.edu 37 3 186503790 186503790 + Missense_Mutation SNP T T A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 3 186503790 186503790 T A SNP EIF4A2 ENST00000440191 human ensembl 74_37 +1 known missense c.470 p.V157D 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors EIF4A2 HGNC ENSG00000156976 50 0 0 71 37 34.2593 CLEC3B 0 genome.wustl.edu 37 3 45077363 45077363 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 3 45077363 45077363 G A SNP CLEC3B ENST00000296130 human ensembl 74_37 +1 known missense c.556 p.D186N 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC3B HGNC ENSG00000163815 81 0 0 52 33 38.8235 LAMB2 0 genome.wustl.edu 37 3 49166009 49166009 + Missense_Mutation SNP G G T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 3 49166009 49166009 G T SNP LAMB2 ENST00000305544 human ensembl 74_37 -1 known missense c.1900 p.Q634K 0.448 pfscan_Laminin_IV pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC ENSG00000172037 99 0 0 44 32 42.1053 UBA7 0 genome.wustl.edu 37 3 49847040 49847040 + Missense_Mutation SNP C C G TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 3 49847040 49847040 C G SNP UBA7 ENST00000333486 human ensembl 74_37 -1 known missense c.2023 p.G675R 0.992 superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 pfam_ThiF_NAD_FAD-bd,pfam_UBact_repeat,pfam_Ub-activating_enz_e1_C,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 - no_errors UBA7 HGNC ENSG00000182179 293 0 0 158 54 25.4717 GRM2 0 genome.wustl.edu 37 3 51749696 51749696 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 3 51749696 51749696 G A SNP GRM2 ENST00000395052 human ensembl 74_37 +1 known missense c.1907 p.R636H 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_GABA_rcpt_B - no_errors GRM2 HGNC ENSG00000164082 104 0 0 42 32 43.2432 FRMD4B 0 genome.wustl.edu 37 3 69231783 69231783 + Missense_Mutation SNP G G C TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 3 69231783 69231783 G C SNP FRMD4B ENST00000398540 human ensembl 74_37 -1 known missense c.2005 p.L669V 0.984 NULL pfam_DUF3338,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4B HGNC ENSG00000114541 234 0 0 166 68 29.0598 ARL13B 0 genome.wustl.edu 37 3 93699275 93699275 + Missense_Mutation SNP G G C TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 3 93699275 93699275 G C SNP ARL13B ENST00000394222 human ensembl 74_37 +1 known missense c.8 p.S3T 1.000 NULL pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom - no_errors ARL13B HGNC ENSG00000169379 94 0 0 55 4 6.77966 PRDM5 0 genome.wustl.edu 37 4 121739673 121739673 + Missense_Mutation SNP C C G TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 4 121739673 121739673 C G SNP PRDM5 ENST00000264808 human ensembl 74_37 -1 known missense c.485 p.G162A 0.856 pirsf_Znf_PRDM5 pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM5,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM5 HGNC ENSG00000138738 53 0 0 35 17 32.6923 FAT4 0 genome.wustl.edu 37 4 126242374 126242374 + Missense_Mutation SNP C C A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 4 126242374 126242374 C A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.4808 p.A1603E 1.000 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 149 0 0 90 33 26.8293 TLL1 0 genome.wustl.edu 37 4 166915615 166915615 + Silent SNP C C A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 4 166915615 166915615 C A SNP TLL1 ENST00000061240 human ensembl 74_37 +1 known silent c.444 p.A148 0.976 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 53 0 0 27 8 22.8571 CTNND2 0 genome.wustl.edu 37 5 11384956 11384956 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 5 11384956 11384956 G A SNP CTNND2 ENST00000304623 human ensembl 74_37 -1 known missense c.998 p.S333L 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 46 0 0 25 11 30.5556 SRFBP1 0 genome.wustl.edu 37 5 121311043 121311043 + Silent SNP A A G TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 5 121311043 121311043 A G SNP SRFBP1 ENST00000339397 human ensembl 74_37 +1 known silent c.159 p.R53 0.998 NULL pfam_Bud-site_select_BUD22 - no_errors SRFBP1 HGNC ENSG00000151304 99 0 0 80 32 28.5714 PCDHA9 0 genome.wustl.edu 37 5 140229774 140229774 + Missense_Mutation SNP T T C TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 5 140229774 140229774 T C SNP PCDHA9 ENST00000532602 human ensembl 74_37 +1 known missense c.1694 p.L565P 0.980 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA9 HGNC ENSG00000204961 227 0 0 113 64 36.1582 PCDHB13 0 genome.wustl.edu 37 5 140595824 140595824 + Missense_Mutation SNP C C A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 5 140595824 140595824 C A SNP PCDHB13 ENST00000341948 human ensembl 74_37 +1 known missense c.2129 p.A710E 0.002 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB13 HGNC ENSG00000187372 316 0 0 307 22 6.68693 SCGB3A2 0 genome.wustl.edu 37 5 147261702 147261702 + RNA SNP A A C TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 5 147261702 147261702 A C SNP SCGB3A2 ENST00000507160 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors SCGB3A2 HGNC ENSG00000164265 18 0 0 10 7 41.1765 PRDM9 0 genome.wustl.edu 37 5 23526712 23526712 + Silent SNP T T C TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 5 23526712 23526712 T C SNP PRDM9 ENST00000296682 human ensembl 74_37 +1 known silent c.1515 p.N505 0.002 NULL pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM9 HGNC ENSG00000164256 87 0 0 14 38 73.0769 PRDM9 0 genome.wustl.edu 37 5 23526955 23526955 + Silent SNP G G C TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 5 23526955 23526955 G C SNP PRDM9 ENST00000296682 human ensembl 74_37 +1 known silent c.1758 p.G586 0.990 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM9 HGNC ENSG00000164256 155 0 0 44 37 45.679 SEMA5A 0 genome.wustl.edu 37 5 9227000 9227000 + Missense_Mutation SNP G G C TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 5 9227000 9227000 G C SNP SEMA5A ENST00000382496 human ensembl 74_37 -1 known missense c.413 p.P138R 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5A HGNC ENSG00000112902 73 0 0 51 24 32 FAM184A 0 genome.wustl.edu 37 6 119338083 119338083 + Missense_Mutation SNP C C A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 6 119338083 119338083 C A SNP FAM184A ENST00000338891 human ensembl 74_37 -1 known missense c.1359 p.Q453H 0.996 NULL superfamily_Prefoldin - no_errors FAM184A HGNC ENSG00000111879 43 0 0 39 11 22 MAN1A1 0 genome.wustl.edu 37 6 119670147 119670147 + Silent SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 6 119670147 119670147 C T SNP MAN1A1 ENST00000368468 human ensembl 74_37 -1 known silent c.84 p.R28 1.000 NULL pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1A1 HGNC ENSG00000111885 31 0 0 34 7 17.0732 HEY2 0 genome.wustl.edu 37 6 126080780 126080780 + Silent SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 6 126080780 126080780 C T SNP HEY2 ENST00000368364 human ensembl 74_37 +1 known silent c.846 p.F282 0.030 NULL pfam_bHLH_dom,pfam_Orange,superfamily_bHLH_dom,smart_bHLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_bHLH_dom,prints_Antifreeze_1 - no_errors HEY2 HGNC ENSG00000135547 418 0 0 212 277 56.6462 MCUR1 0 genome.wustl.edu 37 6 13792193 13792193 + Missense_Mutation SNP G G T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 6 13792193 13792193 G T SNP MCUR1 ENST00000379170 human ensembl 74_37 -1 known missense c.941 p.T314K 1.000 pfam_DUF1640 pfam_DUF1640 - no_errors MCUR1 HGNC ENSG00000050393 55 0 0 48 13 21.3115 SYNE1 0 genome.wustl.edu 37 6 152690232 152690232 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 6 152690232 152690232 G A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.9682 p.P3228S 1.000 pfam_Spectrin_repeat,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 35 0 0 61 10 14.0845 SYNE1 0 genome.wustl.edu 37 6 152718079 152718079 + Missense_Mutation SNP G G T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 6 152718079 152718079 G T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.7387 p.L2463I 1.000 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 82 0 0 116 8 6.45161 ATXN1 0 genome.wustl.edu 37 6 16328351 16328351 + Missense_Mutation SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 6 16328351 16328351 C T SNP ATXN1 ENST00000244769 human ensembl 74_37 -1 known missense c.191 p.G64E 0.883 NULL pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 - no_errors ATXN1 HGNC ENSG00000124788 230 0 0 132 62 31.9588 C6orf118 0 genome.wustl.edu 37 6 165715680 165715680 + Missense_Mutation SNP A A C TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 6 165715680 165715680 A C SNP C6orf118 ENST00000230301 human ensembl 74_37 -1 known missense c.131 p.L44R 0.046 NULL superfamily_Ribonuclease/ribotoxin - no_errors C6orf118 HGNC ENSG00000112539 102 0 0 113 71 38.587 SNORD117 0 genome.wustl.edu 37 6 31504182 31504182 + RNA SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 6 31504182 31504182 G A SNP SNORD117 ENST00000364915 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors SNORD117 HGNC ENSG00000201785 82 0 0 89 51 36.4286 IRF4 0 genome.wustl.edu 37 6 394831 394831 + Missense_Mutation SNP T T C TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 6 394831 394831 T C SNP IRF4 ENST00000380956 human ensembl 74_37 +1 known missense c.227 p.L76P 0.984 pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF4 HGNC ENSG00000137265 218 0 0 164 15 8.37989 TFEB 0 genome.wustl.edu 37 6 41652678 41652678 + Missense_Mutation SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 6 41652678 41652678 C T SNP TFEB ENST00000230323 human ensembl 74_37 -1 known missense c.1090 p.A364T 0.020 pfam_bHLH_ZIP_TF_MiT/TFE pfam_bHLH_ZIP_TF_MiT/TFE,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TFEB HGNC ENSG00000112561 23 0 0 40 15 27.2727 KLC4 0 genome.wustl.edu 37 6 43029068 43029068 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 6 43029068 43029068 G A SNP KLC4 ENST00000259708 human ensembl 74_37 +1 known missense c.49 p.A17T 0.106 NULL pfam_Rabaptin_Rab5-bd_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light - no_errors KLC4 HGNC ENSG00000137171 105 0 0 225 71 23.9865 FAM83B 0 genome.wustl.edu 37 6 54806610 54806610 + Missense_Mutation SNP T T G TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 6 54806610 54806610 T G SNP FAM83B ENST00000306858 human ensembl 74_37 +1 known missense c.2841 p.I947M 0.470 NULL pfam_DUF1669 - no_errors FAM83B HGNC ENSG00000168143 74 0 0 123 16 11.5108 DST 0 genome.wustl.edu 37 6 56819242 56819242 + Silent SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 6 56819242 56819242 C T SNP DST ENST00000370754 human ensembl 74_37 -1 known silent c.144 p.P48 0.985 superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 31 0 0 69 21 23.3333 COL9A1 0 genome.wustl.edu 37 6 71004163 71004163 + Missense_Mutation SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 6 71004163 71004163 C T SNP COL9A1 ENST00000357250 human ensembl 74_37 -1 known missense c.403 p.D135N 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL9A1 HGNC ENSG00000112280 146 0 0 88 54 38.0282 KCNQ5 0 genome.wustl.edu 37 6 73332128 73332128 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 6 73332128 73332128 G A SNP KCNQ5 ENST00000402622 human ensembl 74_37 +1 known missense c.211 p.G71S 0.999 NULL 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 13 0 0 6 12 66.6667 IBTK 0 genome.wustl.edu 37 6 82936897 82936897 + Missense_Mutation SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 6 82936897 82936897 C T SNP IBTK ENST00000503400 human ensembl 74_37 -1 known missense c.666 p.M222I 0.001 NULL pfam_Ankyrin_rpt,pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Reg_chr_condens - no_errors IBTK HGNC ENSG00000005700 74 0 0 22 45 67.1642 MDN1 0 genome.wustl.edu 37 6 90417179 90417179 + Missense_Mutation SNP C C G TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 6 90417179 90417179 C G SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known missense c.7915 p.D2639H 1.000 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 34 0 0 37 12 24.4898 LMOD2 0 genome.wustl.edu 37 7 123302309 123302309 + Silent SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 7 123302309 123302309 C T SNP LMOD2 ENST00000458573 human ensembl 74_37 +1 known silent c.669 p.N223 1.000 NULL pfam_Tropomodulin,pfscan_WH2_dom - no_errors LMOD2 HGNC ENSG00000170807 48 0 0 18 43 70.4918 ADCK2 0 genome.wustl.edu 37 7 140373462 140373462 + Missense_Mutation SNP T T C TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 7 140373462 140373462 T C SNP ADCK2 ENST00000072869 human ensembl 74_37 +1 known missense c.332 p.F111S 0.654 NULL pfam_UbiB_dom,superfamily_Kinase-like_dom - no_errors ADCK2 HGNC ENSG00000133597 216 0 0 204 12 5.55556 CASP2 0 genome.wustl.edu 37 7 142989724 142989724 + Silent SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 7 142989724 142989724 C T SNP CASP2 ENST00000310447 human ensembl 74_37 +1 known silent c.408 p.Y136 0.902 pirsf_Caspase_IL-1_beta pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP2 HGNC ENSG00000106144 54 0 0 11 36 76.5957 OR2A2 0 genome.wustl.edu 37 7 143807364 143807364 + Missense_Mutation SNP A A C TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 7 143807364 143807364 A C SNP OR2A2 ENST00000408979 human ensembl 74_37 +1 known missense c.689 p.K230T 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2A2 HGNC ENSG00000221989 137 0 0 49 122 71.345 AGMO 0 genome.wustl.edu 37 7 15405215 15405215 + Missense_Mutation SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 7 15405215 15405215 C T SNP AGMO ENST00000342526 human ensembl 74_37 -1 known missense c.1187 p.R396H 0.928 NULL pfam_Fatty_acid_hydroxylase - no_errors AGMO HGNC ENSG00000187546 38 0 0 38 50 56.8182 PAXIP1-AS2 0 genome.wustl.edu 37 7 154738068 154738068 + Splice_Site SNP A A C TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 7 154738068 154738068 A C SNP PAXIP1-AS2 ENST00000411526 human ensembl 74_37 +1 known splice_site c.318-2 e4-2 1.000 - - - no_errors PAXIP1-AS2 HGNC ENSG00000214106 122 0 0 111 37 25 PTPRN2 0 genome.wustl.edu 37 7 157931128 157931128 + Silent SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 7 157931128 157931128 G A SNP PTPRN2 ENST00000404321 human ensembl 74_37 -1 known silent c.1059 p.D353 0.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN2 HGNC ENSG00000155093 134 0 0 139 27 16.2651 NFE2L3 0 genome.wustl.edu 37 7 26224557 26224557 + Silent SNP T T C TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 7 26224557 26224557 T C SNP NFE2L3 ENST00000056233 human ensembl 74_37 +1 known silent c.1239 p.D413 1.000 NULL pfam_bZIP,pfam_bZIP_Maf,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2L3 HGNC ENSG00000050344 89 0 0 72 73 50.3448 EPDR1 0 genome.wustl.edu 37 7 37989872 37989872 + Nonsense_Mutation SNP C C A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 7 37989872 37989872 C A SNP EPDR1 ENST00000559325 human ensembl 74_37 +1 known nonsense c.909 p.Y303* 1.000 pfam_Ependymin,smart_Ependymin pfam_Ependymin,smart_Ependymin,prints_Ependymin - no_errors EPDR1 HGNC ENSG00000086289 22 0 0 36 11 23.4043 ZNF479 0 genome.wustl.edu 37 7 57188696 57188696 + Nonsense_Mutation SNP A A T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 7 57188696 57188696 A T SNP ZNF479 ENST00000331162 human ensembl 74_37 -1 known nonsense c.426 p.Y142* 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF479 HGNC ENSG00000185177 96 0 0 112 34 23.2877 DNAJC30 0 genome.wustl.edu 37 7 73097334 73097334 + Silent SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 7 73097334 73097334 G A SNP DNAJC30 ENST00000395176 human ensembl 74_37 -1 known silent c.420 p.T140 0.086 NULL pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC30 HGNC ENSG00000176410 37 0 0 17 15 46.875 EXT1 0 genome.wustl.edu 37 8 118834812 118834812 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 8 118834812 118834812 G A SNP EXT1 ENST00000378204 human ensembl 74_37 -1 known missense c.1309 p.H437Y 1.000 NULL pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXT1 HGNC ENSG00000182197 46 0 0 59 4 6.34921 TG 0 genome.wustl.edu 37 8 134030213 134030213 + Missense_Mutation SNP G G T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 8 134030213 134030213 G T SNP TG ENST00000220616 human ensembl 74_37 +1 known missense c.6753 p.W2251C 1.000 pfam_CarbesteraseB,pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 55 0 0 43 18 29.5082 AGO2 0 genome.wustl.edu 37 8 141545600 141545600 + Silent SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 8 141545600 141545600 G A SNP AGO2 ENST00000220592 human ensembl 74_37 -1 known silent c.2238 p.F746 1.000 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO2 HGNC ENSG00000123908 117 0 0 131 32 19.6319 DLGAP2 0 genome.wustl.edu 37 8 1497185 1497185 + Missense_Mutation SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 8 1497185 1497185 C T SNP DLGAP2 ENST00000421627 human ensembl 74_37 +1 known missense c.326 p.P109L 1.000 NULL pfam_GKAP - no_errors DLGAP2 HGNC ENSG00000198010 29 0 0 43 5 10.4167 TEX15 0 genome.wustl.edu 37 8 30701748 30701748 + Missense_Mutation SNP A A G TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 8 30701748 30701748 A G SNP TEX15 ENST00000256246 human ensembl 74_37 -1 known missense c.4786 p.S1596P 0.000 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 99 0 0 115 31 21.2329 TEX15 0 genome.wustl.edu 37 8 30701929 30701929 + Silent SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 8 30701929 30701929 C T SNP TEX15 ENST00000256246 human ensembl 74_37 -1 known silent c.4605 p.P1535 0.000 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 165 1 0.60241 161 56 25.8065 TEX15 0 genome.wustl.edu 37 8 30704291 30704291 + Missense_Mutation SNP T T G TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 8 30704291 30704291 T G SNP TEX15 ENST00000256246 human ensembl 74_37 -1 known missense c.2243 p.K748T 0.015 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 47 0 0 59 18 23.3766 CPQ 0 genome.wustl.edu 37 8 98078419 98078419 + Nonsense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 8 98078419 98078419 G A SNP CPQ ENST00000220763 human ensembl 74_37 +1 known nonsense c.1236 p.W412* 1.000 pfam_Peptidase_M28,pfam_Peptidase_M20 pfam_Peptidase_M28,pfam_Peptidase_M20 - no_errors CPQ HGNC ENSG00000104324 73 0 0 80 17 17.5258 FAM78A 0 genome.wustl.edu 37 9 134136311 134136311 + Silent SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 9 134136311 134136311 C T SNP FAM78A ENST00000372271 human ensembl 74_37 -1 known silent c.750 p.P250 0.536 NULL NULL - no_errors FAM78A HGNC ENSG00000126882 184 0 0 105 80 43.2432 ADAMTS13 0 genome.wustl.edu 37 9 136279592 136279592 + RNA SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 9 136279592 136279592 G A SNP ADAMTS13 ENST00000485925 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ADAMTS13 HGNC ENSG00000160323 12 0 0 5 4 44.4444 ADAMTSL2 0 genome.wustl.edu 37 9 136405800 136405800 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 9 136405800 136405800 G A SNP ADAMTSL2 ENST00000393061 human ensembl 74_37 +1 known missense c.820 p.A274T 1.000 NULL pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL2 HGNC ENSG00000197859 92 0 0 89 11 11 RNA5SP284 0 genome.wustl.edu 37 9 68408948 68408948 + RNA SNP C C G TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 9 68408948 68408948 C G SNP RNA5SP284 ENST00000384547 human ensembl 74_37 +1 known rna NULL NULL 0.037 - - - no_errors RNA5SP284 HGNC ENSG00000207277 13 0 0 4 4 50 PTCH1 0 genome.wustl.edu 37 9 98241322 98241322 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 9 98241322 98241322 G A SNP PTCH1 ENST00000331920 human ensembl 74_37 -1 known missense c.1175 p.A392V 1.000 pfam_Patched,tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC ENSG00000185920 49 0 0 69 18 20.6897 MT-RNR1 0 genome.wustl.edu 37 MT 1362 1362 + RNA SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c MT 1362 1362 G A SNP MT-RNR1 ENST00000389680 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR1 HGNC ENSG00000211459 218 0 0 89 15 14.4231 MT-CO2 0 genome.wustl.edu 37 MT 8186 8186 + Nonsense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c MT 8186 8186 G A SNP MT-CO2 ENST00000361739 human ensembl 74_37 +1 known nonsense c.601 p.G201* NULL pfam_Cyt_c_oxidase_su2_C,superfamily_Cupredoxin,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2 pfam_Cyt_c_oxidase_su2_C,pfam_Cyt_c_oxidase_su2_TM_dom,superfamily_Cupredoxin,superfamily_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2 - no_errors MT-CO2 HGNC ENSG00000198712 210 0 0 31 68 68.6869 IGSF1 0 genome.wustl.edu 37 X 130412569 130412569 + Missense_Mutation SNP G G A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c X 130412569 130412569 G A SNP IGSF1 ENST00000370903 human ensembl 74_37 -1 known missense c.1922 p.P641L 0.813 NULL pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors IGSF1 HGNC ENSG00000147255 62 0 0 105 6 5.40541 KDM5C 0 genome.wustl.edu 37 X 53243871 53243871 + Silent SNP C C T TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c X 53243871 53243871 C T SNP KDM5C ENST00000375401 human ensembl 74_37 -1 known silent c.1122 p.A374 1.000 superfamily_Znf_FYVE_PHD,pfscan_Znf_PHD-finger pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5C HGNC ENSG00000126012 12 0 0 7 5 41.6667 SH3BGRL 0 genome.wustl.edu 37 X 80552778 80552778 + RNA SNP T T C TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c X 80552778 80552778 T C SNP SH3BGRL ENST00000463546 human ensembl 74_37 +1 known rna NULL NULL 0.974 - - - no_errors SH3BGRL HGNC ENSG00000131171 8 0 0 3 6 66.6667 COPB1 0 genome.wustl.edu 37 11 14520474 14520475 + Frame_Shift_Ins INS - - GGTTTCTG TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 11 14520474 14520475 - GGTTTCTG INS COPB1 ENST00000249923 human ensembl 74_37 -1 known frame_shift_ins c.1_2 p.M0fs 1.000:1.000 NULL pfam_Coatomer_bsu_C,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_COPB1 - no_errors COPB1 HGNC ENSG00000129083 35 0 0 32 4 11.1111 GAS6 0 genome.wustl.edu 37 13 114542799 114542799 + Frame_Shift_Del DEL T T - TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 13 114542799 114542799 T - DEL GAS6 ENST00000357389 human ensembl 74_37 -1 known frame_shift_del c.368 p.N123fs 0.196 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,pfam_GLA_domain,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain - no_errors GAS6 HGNC ENSG00000183087 249 0 0 65 79 54.8611 TTN-AS1 0 genome.wustl.edu 37 2 179479100 179479100 + RNA DEL A A - TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 2 179479100 179479100 A - DEL TTN-AS1 ENST00000456053 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors TTN-AS1 HGNC ENSG00000237298 60 0 0 66 16 19.5122 SGOL1 0 genome.wustl.edu 37 3 20216050 20216050 + Frame_Shift_Del DEL T T - TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 3 20216050 20216050 T - DEL SGOL1 ENST00000263753 human ensembl 74_37 -1 known frame_shift_del c.973 p.M325fs 0.000 NULL pfam_Shugoshin_N,pfam_Shugoshin_C - no_errors SGOL1 HGNC ENSG00000129810 23 0 0 23 3 11.5385 METTL14 0 genome.wustl.edu 37 4 119631250 119631261 + In_Frame_Del DEL TACAGAAGAAAT TACAGAAGAAAT - TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 TACAGAAGAAAT TACAGAAGAAAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 4 119631250 119631261 TACAGAAGAAAT - DEL METTL14 ENST00000388822 human ensembl 74_37 +1 known in_frame_del c.1164_1175 p.TEEI389in_frame_del 0.999:1.000:1.000:0.513:1.000:1.000:0.998:1.000:1.000:0.998:1.000:0.999 NULL pfam_MT-A70-like,pfscan_MT-A70-like - no_errors METTL14 HGNC ENSG00000145388 98 0 0 66 14 17.5 LPCAT1 0 genome.wustl.edu 37 5 1471036 1471052 + Frame_Shift_Del DEL CGCTCTGTGGGGAGAGA CGCTCTGTGGGGAGAGA - TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 CGCTCTGTGGGGAGAGA CGCTCTGTGGGGAGAGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 5 1471036 1471052 CGCTCTGTGGGGAGAGA - DEL LPCAT1 ENST00000283415 human ensembl 74_37 -1 known frame_shift_del c.1183_1180 p.S394fs 0.434:0.005:0.013:0.016 smart_EF_hand_dom,pfscan_EF_hand_dom pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors LPCAT1 HGNC ENSG00000153395 93 0 0 52 17 24.6377 DLX6 0 genome.wustl.edu 37 7 96635420 96635421 + In_Frame_Ins INS - - GCC TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 7 96635420 96635421 - GCC INS DLX6 ENST00000518156 human ensembl 74_37 +1 known in_frame_ins c.131_132 p.48in_frame_insP 0.990:1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX6 HGNC ENSG00000006377 14 0 0 11 6 35.2941 SETX 0 genome.wustl.edu 37 9 135158547 135158548 + RNA INS - - A TCGA-BR-A4CQ-01A-12D-A25D-08 TCGA-BR-A4CQ-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 890f6174-6b66-43a0-a669-1e45b3b86963 51dbd017-e043-4ae0-86d5-a4a2dd76bf2c 9 135158547 135158548 - A INS SETX ENST00000474172 human ensembl 74_37 -1 known rna NULL NULL 0.028:0.010 - - - no_errors SETX HGNC ENSG00000107290 14 0 0 15 4 21.0526