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 ABCA12 26154 genome.wustl.edu 37 2 215875193 215875193 + Silent SNP T T C TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 2 215875193 215875193 T C SNP ABCA12 ENST00000272895 human ensembl 70_37 -1 known silent c.2334 p.T778 0.997 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ABHD8 79575 genome.wustl.edu 37 19 17405201 17405201 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 19 17405201 17405201 C T SNP ABHD8 ENST00000247706 human ensembl 70_37 -1 known missense c.1045 p.E349K 1.000 pfam_AB_hydrolase_1 pfam_AB_hydrolase_1,prints_AB_hydrolase_1,prints_Epox_hydrolase-like - no_errors ABHD8 HGNC ADAMTS7 11173 genome.wustl.edu 37 15 79056093 79056093 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 15 79056093 79056093 C T SNP ADAMTS7 ENST00000388820 human ensembl 70_37 -1 known missense c.4688 p.R1563Q 0.303 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS7 HGNC APOBEC3G 60489 genome.wustl.edu 37 22 39479831 39479831 + Missense_Mutation SNP G G T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 22 39479831 39479831 G T SNP APOBEC3G ENST00000407997 human ensembl 70_37 +1 known missense c.677 p.R226L 0.005 pfam_APOBEC_N pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC3G HGNC APOBR 55911 genome.wustl.edu 37 16 28507445 28507445 + Missense_Mutation SNP G G C TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 16 28507445 28507445 G C SNP APOBR ENST00000564831 human ensembl 70_37 +1 known missense c.1083 p.E361D 0.310 NULL NULL - no_errors APOBR HGNC ARHGAP4 393 genome.wustl.edu 37 X 153176375 153176375 + Splice_Site SNP C C G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 X 153176375 153176375 C G SNP ARHGAP4 ENST00000350060 human ensembl 70_37 -1 known splice_site c.1681+1 e14+1 1.000 - - - no_errors ARHGAP4 HGNC ARHGEF9 23229 genome.wustl.edu 37 X 62898257 62898257 + Missense_Mutation SNP A A T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 X 62898257 62898257 A T SNP ARHGEF9 ENST00000253401 human ensembl 70_37 -1 known missense c.757 p.L253M 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF9 HGNC ARPC2 10109 genome.wustl.edu 37 2 219082250 219082250 + Missense_Mutation SNP C C G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 2 219082250 219082250 C G SNP ARPC2 ENST00000295685 human ensembl 70_37 +1 known missense c.57 p.F19L 1.000 NULL pfam_P34-arc - no_errors ARPC2 HGNC ASTE1 28990 genome.wustl.edu 37 3 130743916 130743916 + Missense_Mutation SNP C C G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 3 130743916 130743916 C G SNP ASTE1 ENST00000264992 human ensembl 70_37 -1 known missense c.235 p.D79H 0.997 pfam_XPG_DNA_repair_N pfam_XPG_DNA_repair_N - no_errors ASTE1 HGNC ATF6B 1388 genome.wustl.edu 37 6 32083725 32083725 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 6 32083725 32083725 C T SNP ATF6B ENST00000375203 human ensembl 70_37 -1 known missense c.1903 p.A635T 0.003 NULL pfam_bZIP,smart_bZIP,pfscan_bZIP - no_errors ATF6B HGNC ATP2B2 491 genome.wustl.edu 37 3 10417157 10417157 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 3 10417157 10417157 C T SNP ATP2B2 ENST00000352432 human ensembl 70_37 -1 known missense c.1373 p.G458E 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B2 HGNC ATP2B3 492 genome.wustl.edu 37 X 152807877 152807877 + Nonsense_Mutation SNP C C G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 X 152807877 152807877 C G SNP ATP2B3 ENST00000263519 human ensembl 70_37 +1 known nonsense c.761 p.S254* 0.997 pfam_ATPase_P-typ_ATPase-assoc-dom,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B3 HGNC AUH 549 genome.wustl.edu 37 9 94123919 94123919 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 9 94123919 94123919 C T SNP AUH ENST00000375731 human ensembl 70_37 -1 known missense c.253 p.E85K 1.000 NULL pfam_Crotonase_core - no_errors AUH HGNC BBX 56987 genome.wustl.edu 37 3 107474452 107474452 + Nonsense_Mutation SNP C C G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 3 107474452 107474452 C G SNP BBX ENST00000325805 human ensembl 70_37 +1 known nonsense c.833 p.S278* 1.000 pfam_TF_HMG_box_BBX_DUF2028 pfam_TF_HMG_box_BBX_DUF2028,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors BBX HGNC BIRC6 57448 genome.wustl.edu 37 2 32640932 32640932 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 2 32640932 32640932 C T SNP BIRC6 ENST00000421745 human ensembl 70_37 +1 known missense c.2573 p.S858L 1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC BUB1 699 genome.wustl.edu 37 2 111408297 111408297 + Missense_Mutation SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 2 111408297 111408297 G A SNP BUB1 ENST00000302759 human ensembl 70_37 -1 known missense c.2029 p.R677C 0.000 NULL pfam_Mad3_BUB1_I,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors BUB1 HGNC BUB1B 701 genome.wustl.edu 37 15 40477477 40477477 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 15 40477477 40477477 C T SNP BUB1B ENST00000412359 human ensembl 70_37 +1 known missense c.905 p.S302F 0.001 NULL pfam_Mad3_BUB1_I,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I - no_errors BUB1B HGNC C2orf78 388960 genome.wustl.edu 37 2 74044086 74044086 + Missense_Mutation SNP G G T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 2 74044086 74044086 G T SNP C2orf78 ENST00000409561 human ensembl 70_37 +1 novel missense c.2736 p.M912I 0.002 NULL NULL - no_errors C2orf78 HGNC C5orf34 375444 genome.wustl.edu 37 5 43509274 43509274 + Missense_Mutation SNP C C G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 5 43509274 43509274 C G SNP C5orf34 ENST00000306862 human ensembl 70_37 -1 known missense c.168 p.R56S 1.000 NULL NULL - no_errors C5orf34 HGNC C6orf222 389384 genome.wustl.edu 37 6 36298020 36298020 + Missense_Mutation SNP G G T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 6 36298020 36298020 G T SNP C6orf222 ENST00000437635 human ensembl 70_37 -1 known missense c.448 p.H150N 0.044 NULL NULL - no_errors C6orf222 HGNC CACNA1G 8913 genome.wustl.edu 37 17 48653249 48653251 + In_Frame_Del DEL CAC CAC - TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 CAC CAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 17 48653249 48653251 CAC - DEL CACNA1G ENST00000359106 human ensembl 70_37 +1 known in_frame_del c.1486_1488 p.H499in_frame_del 0.985:1.000:1.000 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1G HGNC CADM3 57863 genome.wustl.edu 37 1 159162383 159162383 + Missense_Mutation SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 1 159162383 159162383 G A SNP CADM3 ENST00000368124 human ensembl 70_37 +1 known missense c.347 p.R116Q 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like - no_errors CADM3 HGNC CAMK2D 817 genome.wustl.edu 37 4 114386752 114386752 + Missense_Mutation SNP G G T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 4 114386752 114386752 G T SNP CAMK2D ENST00000454265 human ensembl 70_37 -1 known missense c.1117 p.Q373K 1.000 pfam_Ca/CaM-dep_prot_kinase-assoc,superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CAMK2D HGNC CCDC37 348807 genome.wustl.edu 37 3 126151933 126151933 + Silent SNP G G C TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 3 126151933 126151933 G C SNP CCDC37 ENST00000393425 human ensembl 70_37 +1 known silent c.1311 p.L437 1.000 superfamily_SuperAg_toxin_C_Staph/Strep superfamily_SuperAg_toxin_C_Staph/Strep - no_errors CCDC37 HGNC CCL22 6367 genome.wustl.edu 37 16 57397455 57397455 + Silent SNP C C A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 16 57397455 57397455 C A SNP CCL22 ENST00000219235 human ensembl 70_37 +1 known silent c.237 p.P79 0.924 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXCL8/IL8 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXCL8/IL8 - no_errors CCL22 HGNC CCPG1 9236 genome.wustl.edu 37 15 55677852 55677852 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 15 55677852 55677852 C T SNP CCPG1 ENST00000310958 human ensembl 70_37 -1 known missense c.121 p.E41K 0.125 NULL NULL - no_errors CCPG1 HGNC CD101 9398 genome.wustl.edu 37 1 117559730 117559730 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 1 117559730 117559730 C T SNP CD101 ENST00000256652 human ensembl 70_37 +1 known missense c.1247 p.S416F 0.146 pfam_Ig_V-set,pfam_Ig_I-set,pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors CD101 HGNC CELF6 60677 genome.wustl.edu 37 15 72582590 72582590 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 15 72582590 72582590 C T SNP CELF6 ENST00000569547 human ensembl 70_37 -1 known missense c.401 p.R134Q 1.000 pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF6 HGNC CHN2 1124 genome.wustl.edu 37 7 29438048 29438048 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 7 29438048 29438048 C T SNP CHN2 ENST00000539406 human ensembl 70_37 +1 known missense c.461 p.A154V 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SH2,superfamily_Rho_GTPase_activation_prot,smart_SH2,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_DAG/PE-bd - no_errors CHN2 HGNC CIITA 4261 genome.wustl.edu 37 16 11002911 11002911 + Silent SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 16 11002911 11002911 C T SNP CIITA ENST00000324288 human ensembl 70_37 +1 known silent c.2683 p.L895 0.964 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,prints_MHC_II_transact - no_errors CIITA HGNC CIRBP-AS1 148046 genome.wustl.edu 37 19 1270036 1270036 + RNA SNP G G C TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 19 1270036 1270036 G C SNP CIRBP-AS1 ENST00000585832 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors CIRBP-AS1 HGNC CLSTN2 64084 genome.wustl.edu 37 3 140281742 140281742 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 3 140281742 140281742 C T SNP CLSTN2 ENST00000458420 human ensembl 70_37 +1 known missense c.2302 p.R768W 0.850 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN2 HGNC CNTN3 5067 genome.wustl.edu 37 3 74344283 74344283 + Missense_Mutation SNP G G T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 3 74344283 74344283 G T SNP CNTN3 ENST00000263665 human ensembl 70_37 -1 known missense c.2506 p.L836M 0.862 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN3 HGNC COBL 23242 genome.wustl.edu 37 7 51258767 51258768 + Frame_Shift_Del DEL CA CA - TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 7 51258767 51258768 CA - DEL COBL ENST00000395542 human ensembl 70_37 -1 known frame_shift_del c.465_464 p.V155fs 1.000:1.000 pfam_Cordon-bleu_domain pfam_Cordon-bleu_domain,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors COBL HGNC COL27A1 85301 genome.wustl.edu 37 9 116930553 116930553 + Missense_Mutation SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 9 116930553 116930553 G A SNP COL27A1 ENST00000356083 human ensembl 70_37 +1 known missense c.718 p.D240N 0.998 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL27A1 HGNC COL3A1 1281 genome.wustl.edu 37 2 189864098 189864098 + Missense_Mutation SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 2 189864098 189864098 G A SNP COL3A1 ENST00000304636 human ensembl 70_37 +1 known missense c.2110 p.E704K 0.999 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL3A1 HGNC COL6A3 1293 genome.wustl.edu 37 2 238243461 238243461 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 2 238243461 238243461 C T SNP COL6A3 ENST00000295550 human ensembl 70_37 -1 known missense c.9037 p.E3013K 0.980 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC COX8A 1351 genome.wustl.edu 37 11 63742188 63742188 + Missense_Mutation SNP G G C TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 11 63742188 63742188 G C SNP COX8A ENST00000314133 human ensembl 70_37 +1 known missense c.36 p.L12F 0.669 NULL pfam_Cyt_c_oxidase_su8,superfamily_Cyt_c_oxidase_su8 - no_errors COX8A HGNC CPD 1362 genome.wustl.edu 37 17 28783348 28783348 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 17 28783348 28783348 C T SNP CPD ENST00000225719 human ensembl 70_37 +1 known missense c.3412 p.P1138S 1.000 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPD HGNC CPT1B 1375 genome.wustl.edu 37 22 51014666 51014666 + Silent SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 22 51014666 51014666 C T SNP CPT1B ENST00000312108 human ensembl 70_37 -1 known silent c.660 p.Q220 1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CPT1B HGNC CRK 1398 genome.wustl.edu 37 17 1326941 1326941 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 17 1326941 1326941 C T SNP CRK ENST00000300574 human ensembl 70_37 -1 known missense c.781 p.G261S 1.000 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain pfam_SH3_2,pfam_SH2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH2,smart_SH3_domain,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain - no_errors CRK HGNC CYB5R1 51706 genome.wustl.edu 37 1 202935026 202935026 + Missense_Mutation SNP G G C TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 1 202935026 202935026 G C SNP CYB5R1 ENST00000367249 human ensembl 70_37 -1 known missense c.334 p.L112V 1.000 pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl pfam_OxRdtase_FAD/NAD-bd,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Phe_hydroxylase - no_errors CYB5R1 HGNC DACH1 1602 genome.wustl.edu 37 13 72204688 72204688 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 13 72204688 72204688 C T SNP DACH1 ENST00000359684 human ensembl 70_37 -1 known missense c.1132 p.G378S 1.000 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH1 HGNC DAXX 1616 genome.wustl.edu 37 6 33288313 33288313 + Silent SNP C C G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 6 33288313 33288313 C G SNP DAXX ENST00000266000 human ensembl 70_37 -1 known silent c.1095 p.R365 0.120 pfam_Daxx pfam_Daxx - no_errors DAXX HGNC DDX43 55510 genome.wustl.edu 37 6 74121973 74121973 + Missense_Mutation SNP G G C TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 6 74121973 74121973 G C SNP DDX43 ENST00000370336 human ensembl 70_37 +1 known missense c.1326 p.L442F 1.000 smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_KH_dom_type_1,smart_KH_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_KH_dom_type_1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX43 HGNC DOCK11 139818 genome.wustl.edu 37 X 117695418 117695418 + Missense_Mutation SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 X 117695418 117695418 G A SNP DOCK11 ENST00000276202 human ensembl 70_37 +1 known missense c.631 p.E211K 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK11 HGNC DST 667 genome.wustl.edu 37 6 56437583 56437583 + Missense_Mutation SNP G G T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 6 56437583 56437583 G T SNP DST ENST00000370754 human ensembl 70_37 -1 known missense c.13423 p.P4475T 1.000 superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC DUSP10 11221 genome.wustl.edu 37 1 221875661 221875662 + RNA INS - - A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 1 221875661 221875662 - A INS DUSP10 ENST00000468085 human ensembl 70_37 -1 known rna NULL NULL 0.001:0.040 - - - no_errors DUSP10 HGNC DYM 54808 genome.wustl.edu 37 18 46783450 46783450 + Missense_Mutation SNP A A C TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 18 46783450 46783450 A C SNP DYM ENST00000269445 human ensembl 70_37 -1 known missense c.1390 p.L464V 0.989 pfam_Dymeclin,superfamily_ARM-type_fold pfam_Dymeclin,superfamily_ARM-type_fold - no_errors DYM HGNC ECHDC2 55268 genome.wustl.edu 37 1 53377455 53377455 + Silent SNP A A G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 1 53377455 53377455 A G SNP ECHDC2 ENST00000371522 human ensembl 70_37 -1 known silent c.129 p.T43 0.994 NULL pfam_Crotonase_core - no_errors ECHDC2 HGNC EFNB2 1948 genome.wustl.edu 37 13 107148128 107148128 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 13 107148128 107148128 C T SNP EFNB2 ENST00000245323 human ensembl 70_37 -1 known missense c.467 p.R156K 1.000 pfam_Ephrin,superfamily_Cupredoxin pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNB2 HGNC EFS 10278 genome.wustl.edu 37 14 23828654 23828654 + Missense_Mutation SNP G G T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 14 23828654 23828654 G T SNP EFS ENST00000216733 human ensembl 70_37 -1 known missense c.1033 p.P345T 1.000 NULL pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors EFS HGNC EIF4G1 1981 genome.wustl.edu 37 3 184038632 184038632 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 3 184038632 184038632 C T SNP EIF4G1 ENST00000442406 human ensembl 70_37 +1 known missense c.140 p.A47V 1.000 NULL NULL - no_errors EIF4G1 HGNC ELTD1 64123 genome.wustl.edu 37 1 79358831 79358831 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 1 79358831 79358831 C T SNP ELTD1 ENST00000370742 human ensembl 70_37 -1 known missense c.1793 p.R598H 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors ELTD1 HGNC ENSG00000105642 0 genome.wustl.edu 37 19 18092652 18092652 + RNA SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 19 18092652 18092652 G A SNP ENSG00000105642 ENST00000601725 human ensembl 70_37 +1 known rna NULL NULL 0.970 - - - no_errors CTB-52I2.8 Clone_based_vega_gene ENSG00000224905 0 genome.wustl.edu 37 21 15461085 15461085 + RNA DEL G G - TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 21 15461085 15461085 G - DEL ENSG00000224905 ENST00000448463 human ensembl 70_37 +1 known rna NULL NULL 0.024 - - - no_errors AP001347.6 Clone_based_vega_gene ENSG00000232220 0 genome.wustl.edu 37 19 54379103 54379104 + RNA INS - - A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 19 54379103 54379104 - A INS ENSG00000232220 ENST00000413496 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors AC008440.5 Clone_based_vega_gene ENSG00000233858 0 genome.wustl.edu 37 8 49504301 49504301 + RNA SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 8 49504301 49504301 G A SNP ENSG00000233858 ENST00000430626 human ensembl 70_37 +1 known rna NULL NULL 0.007 - - - no_errors AC026904.1 Clone_based_vega_gene ENSG00000258727 0 genome.wustl.edu 37 14 24030408 24030408 + RNA SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 14 24030408 24030408 G A SNP ENSG00000258727 ENST00000555968 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-66N24.3 Clone_based_vega_gene ENSG00000261546 0 genome.wustl.edu 37 16 89180980 89180980 + RNA SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 16 89180980 89180980 G A SNP ENSG00000261546 ENST00000562782 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2555A7.3 Clone_based_vega_gene EPS8 2059 genome.wustl.edu 37 12 15813561 15813561 + Missense_Mutation SNP C C A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 12 15813561 15813561 C A SNP EPS8 ENST00000281172 human ensembl 70_37 -1 known missense c.924 p.R308S 1.000 NULL pfam_PTB,pfam_SH3_domain,pfam_PTyr_interaction_dom,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTyr_interaction_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors EPS8 HGNC F2RL2 2151 genome.wustl.edu 37 5 75913661 75913661 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 5 75913661 75913661 C T SNP F2RL2 ENST00000296641 human ensembl 70_37 -1 known missense c.871 p.A291T 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2_purnocptor pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Prot_act_rcpt_3,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt,prints_P2_purnocptor - no_errors F2RL2 HGNC FAM73A 374986 genome.wustl.edu 37 1 78245408 78245408 + Missense_Mutation SNP G G T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 1 78245408 78245408 G T SNP FAM73A ENST00000370791 human ensembl 70_37 +1 known missense c.68 p.G23V 0.000 NULL pfam_DUF2217 - no_errors FAM73A HGNC FASTKD1 79675 genome.wustl.edu 37 2 170428398 170428398 + Missense_Mutation SNP C C G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 2 170428398 170428398 C G SNP FASTKD1 ENST00000453153 human ensembl 70_37 -1 known missense c.142 p.D48H 0.990 NULL pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTKD1 HGNC FBN2 2201 genome.wustl.edu 37 5 127704974 127704974 + Missense_Mutation SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 5 127704974 127704974 G A SNP FBN2 ENST00000262464 human ensembl 70_37 -1 known missense c.2149 p.R717C 1.000 pfam_TB_dom,superfamily_TB_dom,pirsf_FBN pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN2 HGNC FCGBP 8857 genome.wustl.edu 37 19 40421395 40421395 + Silent SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 19 40421395 40421395 C T SNP FCGBP ENST00000221347 human ensembl 70_37 -1 known silent c.2526 p.P842 0.000 smart_VWF_C,smart_Fol_N pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC FCRL5 83416 genome.wustl.edu 37 1 157490329 157490329 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 1 157490329 157490329 C T SNP FCRL5 ENST00000356953 human ensembl 70_37 -1 known missense c.2524 p.A842T 0.000 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCRL5 HGNC FECH 2235 genome.wustl.edu 37 18 55226399 55226399 + Missense_Mutation SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 18 55226399 55226399 G A SNP FECH ENST00000382873 human ensembl 70_37 -1 known missense c.800 p.S267F 1.000 pfam_Ferrochelatase,tigrfam_Ferrochelatase pfam_Ferrochelatase,tigrfam_Ferrochelatase - no_errors FECH HGNC FERMT2 10979 genome.wustl.edu 37 14 53324533 53324533 + RNA SNP T T G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 14 53324533 53324533 T G SNP FERMT2 ENST00000557255 human ensembl 70_37 -1 known rna NULL NULL 0.536 - - - no_errors FERMT2 HGNC FOXI1 2299 genome.wustl.edu 37 5 169533237 169533237 + Silent SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 5 169533237 169533237 G A SNP FOXI1 ENST00000306268 human ensembl 70_37 +1 known silent c.276 p.Q92 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXI1 HGNC FRMD4A 55691 genome.wustl.edu 37 10 13743412 13743412 + Silent SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 10 13743412 13743412 C T SNP FRMD4A ENST00000357447 human ensembl 70_37 -1 known silent c.903 p.P301 0.468 pfam_FERM_PH-like_C,pfscan_FERM_domain pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4A HGNC GAB4 128954 genome.wustl.edu 37 22 17445751 17445751 + Missense_Mutation SNP G G T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 22 17445751 17445751 G T SNP GAB4 ENST00000400588 human ensembl 70_37 -1 known missense c.1381 p.H461N 0.882 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB4 HGNC GABBR1 2550 genome.wustl.edu 37 6 29574685 29574685 + Missense_Mutation SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 6 29574685 29574685 G A SNP GABBR1 ENST00000377034 human ensembl 70_37 -1 known missense c.2206 p.R736W 0.998 pfam_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,pfscan_Sushi_SCR_CCP,pfscan_GPCR_3_C - no_errors GABBR1 HGNC GMFG 9535 genome.wustl.edu 37 19 39826106 39826106 + Missense_Mutation SNP G G T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 19 39826106 39826106 G T SNP GMFG ENST00000597595 human ensembl 70_37 -1 known missense c.69 p.F23L 1.000 pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,pirsf_GMF-beta pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,pirsf_GMF-beta - no_errors GMFG HGNC GNB5 10681 genome.wustl.edu 37 15 52446256 52446256 + Missense_Mutation SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 15 52446256 52446256 G A SNP GNB5 ENST00000261837 human ensembl 70_37 -1 known missense c.256 p.R86W 1.000 superfamily_WD40_repeat_dom,pirsf_Guanine_nucleotide-bd_bsu pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep - no_errors GNB5 HGNC GPR98 84059 genome.wustl.edu 37 5 90074700 90074700 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 5 90074700 90074700 C T SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known missense c.12868 p.R4290C 1.000 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC GRAMD4 23151 genome.wustl.edu 37 22 47068805 47068805 + Missense_Mutation SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 22 47068805 47068805 G A SNP GRAMD4 ENST00000361034 human ensembl 70_37 +1 known missense c.1150 p.A384T 0.992 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD4 HGNC GRIN2B 2904 genome.wustl.edu 37 12 13717247 13717247 + Silent SNP C C G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 12 13717247 13717247 C G SNP GRIN2B ENST00000279593 human ensembl 70_37 -1 known silent c.2925 p.L975 0.997 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2B HGNC HAPLN2 60484 genome.wustl.edu 37 1 156594401 156594401 + Missense_Mutation SNP G G C TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 1 156594401 156594401 G C SNP HAPLN2 ENST00000255039 human ensembl 70_37 +1 known missense c.565 p.E189Q 1.000 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link,prints_Link pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like,prints_Link - no_errors HAPLN2 HGNC HCFC2 29915 genome.wustl.edu 37 12 104458473 104458473 + Silent SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 12 104458473 104458473 C T SNP HCFC2 ENST00000229330 human ensembl 70_37 +1 known silent c.135 p.I45 0.999 NULL pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors HCFC2 HGNC HERC5 51191 genome.wustl.edu 37 4 89426997 89426997 + Missense_Mutation SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 4 89426997 89426997 G A SNP HERC5 ENST00000264350 human ensembl 70_37 +1 known missense c.3043 p.E1015K 0.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Haem_Oase-like_multi-hlx,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC5 HGNC HHLA1 10086 genome.wustl.edu 37 8 133113482 133113482 + Silent SNP T T C TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 8 133113482 133113482 T C SNP HHLA1 ENST00000434736 human ensembl 70_37 -1 novel silent c.213 p.G71 0.000 NULL NULL - no_errors HHLA1 HGNC HIF1AN 55662 genome.wustl.edu 37 10 102295784 102295784 + Silent SNP C C G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 10 102295784 102295784 C G SNP HIF1AN ENST00000299163 human ensembl 70_37 +1 known silent c.69 p.L23 0.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors HIF1AN HGNC HIP1 3092 genome.wustl.edu 37 7 75192305 75192305 + Silent SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 7 75192305 75192305 G A SNP HIP1 ENST00000336926 human ensembl 70_37 -1 known silent c.954 p.A318 0.885 NULL pfam_ANTH,pfam_ILWEQ,pfam_Epsin_dom_N,superfamily_ENTH_VHS,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Epsin-like_N,smart_ILWEQ,pfscan_Epsin-like_N,pfscan_ILWEQ - no_errors HIP1 HGNC HUWE1 10075 genome.wustl.edu 37 X 53643957 53643957 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 X 53643957 53643957 C T SNP HUWE1 ENST00000262854 human ensembl 70_37 -1 known missense c.1931 p.R644Q 1.000 pfam_E3_Ub_ligase_DUF913,superfamily_ARM-type_fold pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC IFNA8 3445 genome.wustl.edu 37 9 21409239 21409239 + Silent SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 9 21409239 21409239 C T SNP IFNA8 ENST00000380205 human ensembl 70_37 +1 known silent c.64 p.L22 0.999 pfam_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA8 HGNC IGHV4-59 28392 genome.wustl.edu 37 14 107083491 107083491 + Missense_Mutation SNP G G C TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 14 107083491 107083491 G C SNP IGHV4-59 ENST00000455737 human ensembl 70_37 -1 known missense c.113 p.S38C 0.900 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors IGHV4-59 HGNC IL19 29949 genome.wustl.edu 37 1 207015960 207015960 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 1 207015960 207015960 C T SNP IL19 ENST00000340758 human ensembl 70_37 +1 known missense c.641 p.S214L 0.001 superfamily_4_helix_cytokine-like_core pfam_Interleukin-10/19/20/24,superfamily_4_helix_cytokine-like_core,prints_Interleukin-19,prints_Interleukin-24 - no_errors IL19 HGNC INSL5 10022 genome.wustl.edu 37 1 67263926 67263926 + Missense_Mutation SNP C C G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 1 67263926 67263926 C G SNP INSL5 ENST00000304526 human ensembl 70_37 -1 known missense c.178 p.E60Q 0.723 pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like - no_errors INSL5 HGNC IPP 3652 genome.wustl.edu 37 1 46165596 46165596 + RNA SNP G G T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 1 46165596 46165596 G T SNP IPP ENST00000495072 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors IPP HGNC ITIH4 3700 genome.wustl.edu 37 3 52847505 52847505 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 3 52847505 52847505 C T SNP ITIH4 ENST00000266041 human ensembl 70_37 -1 known missense c.2725 p.E909K 0.978 pfam_ITI_HC_C pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH4 HGNC KAT5 10524 genome.wustl.edu 37 11 65481086 65481086 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 11 65481086 65481086 C T SNP KAT5 ENST00000341318 human ensembl 70_37 +1 known missense c.563 p.S188L 1.000 NULL pfam_MOZ_SAS,pfam_Tudor-knot,superfamily_Acyl_CoA_acyltransferase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow - no_errors KAT5 HGNC KCNH8 131096 genome.wustl.edu 37 3 19190254 19190254 + Silent SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 3 19190254 19190254 C T SNP KCNH8 ENST00000328405 human ensembl 70_37 +1 known silent c.43 p.L15 1.000 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH8 HGNC KCNT1 57582 genome.wustl.edu 37 9 138660689 138660689 + Silent SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 9 138660689 138660689 C T SNP KCNT1 ENST00000298480 human ensembl 70_37 +1 known silent c.1416 p.I472 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2 - no_errors KCNT1 HGNC KDM6B 23135 genome.wustl.edu 37 17 7750482 7750482 + Frame_Shift_Del DEL C C - TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 17 7750482 7750482 C - DEL KDM6B ENST00000254846 human ensembl 70_37 +1 known frame_shift_del c.969 p.P325fs 0.895 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM6B HGNC KIAA1549 57670 genome.wustl.edu 37 7 138588413 138588413 + Missense_Mutation SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 7 138588413 138588413 G A SNP KIAA1549 ENST00000422774 human ensembl 70_37 -1 known missense c.3590 p.A1197V 1.000 NULL NULL - no_errors KIAA1549 HGNC KIAA1841 84542 genome.wustl.edu 37 2 61385089 61385089 + Missense_Mutation SNP C C G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 2 61385089 61385089 C G SNP KIAA1841 ENST00000398622 human ensembl 70_37 +1 known missense c.77 p.S26C 0.000 NULL NULL - no_errors KIAA1841 HGNC KIAA1841 84542 genome.wustl.edu 37 2 61385090 61385090 + Silent SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 2 61385090 61385090 C T SNP KIAA1841 ENST00000398622 human ensembl 70_37 +1 known silent c.78 p.S26 0.001 NULL NULL - no_errors KIAA1841 HGNC KIAA2018 205717 genome.wustl.edu 37 3 113374816 113374816 + Missense_Mutation SNP C C G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 3 113374816 113374816 C G SNP KIAA2018 ENST00000316407 human ensembl 70_37 -1 known missense c.5713 p.D1905H 1.000 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors KIAA2018 HGNC KIF20B 9585 genome.wustl.edu 37 10 91479209 91479209 + Nonsense_Mutation SNP G G T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 10 91479209 91479209 G T SNP KIF20B ENST00000416354 human ensembl 70_37 +1 known nonsense c.1468 p.E490* 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20B HGNC KIFC3 3801 genome.wustl.edu 37 16 57819413 57819413 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 16 57819413 57819413 C T SNP KIFC3 ENST00000539578 human ensembl 70_37 -1 known missense c.104 p.S35N 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIFC3 HGNC LEPR 3953 genome.wustl.edu 37 1 66098839 66098839 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 1 66098839 66098839 C T SNP LEPR ENST00000371060 human ensembl 70_37 +1 known missense c.2678 p.T893M 0.834 NULL pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LEPR HGNC LOC100505501 100505501 genome.wustl.edu 37 8 60032383 60032384 + RNA INS - - C TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 8 60032383 60032384 - C INS LOC100505501 ENST00000523683 human ensembl 70_37 +1 known rna NULL NULL 0.051:0.109 - - - no_errors RP11-25K19.1 Clone_based_vega_gene LRP1B 53353 genome.wustl.edu 37 2 141806683 141806683 + Missense_Mutation SNP T T C TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 2 141806683 141806683 T C SNP LRP1B ENST00000389484 human ensembl 70_37 -1 known missense c.1661 p.N554S 1.000 superfamily_Growth_fac_rcpt,smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1B HGNC LRRC10 376132 genome.wustl.edu 37 12 70004462 70004462 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 12 70004462 70004462 C T SNP LRRC10 ENST00000361484 human ensembl 70_37 -1 known missense c.157 p.E53K 0.997 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC10 HGNC LRRC41 10489 genome.wustl.edu 37 1 46726876 46726877 + RNA INS - - T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 1 46726876 46726877 - T INS LRRC41 ENST00000496156 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.001 - - - no_errors LRRC41 HGNC MAU2 23383 genome.wustl.edu 37 19 19449665 19449665 + Silent SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 19 19449665 19449665 G A SNP MAU2 ENST00000262815 human ensembl 70_37 +1 known silent c.468 p.T156 0.226 pfam_Cohesin_loading_factor pfam_Cohesin_loading_factor,smart_TPR_repeat - no_errors MAU2 HGNC MBTD1 54799 genome.wustl.edu 37 17 49302481 49302481 + Silent SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 17 49302481 49302481 G A SNP MBTD1 ENST00000415868 human ensembl 70_37 -1 known silent c.42 p.S14 1.000 NULL pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS - no_errors MBTD1 HGNC MCTP1 79772 genome.wustl.edu 37 5 94046549 94046549 + Missense_Mutation SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 5 94046549 94046549 G A SNP MCTP1 ENST00000515393 human ensembl 70_37 -1 known missense c.2804 p.P935L 1.000 pfam_PRibTrfase_C pfam_C2_Ca-dep,pfam_PRibTrfase_C,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_C2_dom - no_errors MCTP1 HGNC MED13L 23389 genome.wustl.edu 37 12 116457130 116457130 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 12 116457130 116457130 C T SNP MED13L ENST00000281928 human ensembl 70_37 -1 known missense c.908 p.G303D 1.000 pfam_Mediator_Med13_N_met/fun pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13L HGNC MGAT3 4248 genome.wustl.edu 37 22 39883520 39883520 + Silent SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 22 39883520 39883520 C T SNP MGAT3 ENST00000341184 human ensembl 70_37 +1 known silent c.168 p.V56 0.913 NULL pfam_Glyco_trans_17 - no_errors MGAT3 HGNC MGAT3 4248 genome.wustl.edu 37 22 39883979 39883979 + Missense_Mutation SNP C C G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 22 39883979 39883979 C G SNP MGAT3 ENST00000341184 human ensembl 70_37 +1 known missense c.627 p.I209M 1.000 pfam_Glyco_trans_17 pfam_Glyco_trans_17 - no_errors MGAT3 HGNC MOSPD1 56180 genome.wustl.edu 37 X 134033227 134033228 + RNA INS - - G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 X 134033227 134033228 - G INS MOSPD1 ENST00000462060 human ensembl 70_37 -1 known rna NULL NULL 0.001:0.000 - - - no_errors MOSPD1 HGNC MTUS1 57509 genome.wustl.edu 37 8 17612715 17612715 + Missense_Mutation SNP G G C TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 8 17612715 17612715 G C SNP MTUS1 ENST00000262102 human ensembl 70_37 -1 known missense c.602 p.S201C 0.004 NULL superfamily_Ferritin/RNR-like - no_errors MTUS1 HGNC MXRA8 54587 genome.wustl.edu 37 1 1289241 1289241 + Missense_Mutation SNP G G C TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 1 1289241 1289241 G C SNP MXRA8 ENST00000445648 human ensembl 70_37 -1 known missense c.1308 p.I436M 0.271 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors MXRA8 HGNC NADSYN1 55191 genome.wustl.edu 37 11 71184348 71184348 + Missense_Mutation SNP G G T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 11 71184348 71184348 G T SNP NADSYN1 ENST00000319023 human ensembl 70_37 +1 known missense c.484 p.V162L 0.999 pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Gln-dep_NAD_synthase,pfscan_C-N_Hydrolase pfam_C-N_Hydrolase,pfam_NAD/GMP_synthase,superfamily_C-N_Hydrolase,pirsf_Gln-dep_NAD_synthase,pfscan_C-N_Hydrolase,tigrfam_NAD_synthase - no_errors NADSYN1 HGNC NKD2 85409 genome.wustl.edu 37 5 1037712 1037712 + Silent SNP A A C TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 5 1037712 1037712 A C SNP NKD2 ENST00000537972 human ensembl 70_37 +1 known silent c.865 p.R289 0.006 NULL pfscan_EF_HAND_2 - no_errors NKD2 HGNC NR1D1 9572 genome.wustl.edu 37 17 38252730 38252730 + Missense_Mutation SNP G G C TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 17 38252730 38252730 G C SNP NR1D1 ENST00000246672 human ensembl 70_37 -1 known missense c.570 p.F190L 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR1D1 HGNC NTRK3 4916 genome.wustl.edu 37 15 88680772 88680772 + Missense_Mutation SNP A A G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 15 88680772 88680772 A G SNP NTRK3 ENST00000360948 human ensembl 70_37 -1 known missense c.485 p.F162S 1.000 smart_Cys-rich_flank_reg_C pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_3,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NTRK3 HGNC NUP205 23165 genome.wustl.edu 37 7 135327944 135327944 + Silent SNP C C A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 7 135327944 135327944 C A SNP NUP205 ENST00000285968 human ensembl 70_37 +1 known silent c.5397 p.T1799 1.000 NULL pfam_DUF3414 - no_errors NUP205 HGNC OR6C76 390326 genome.wustl.edu 37 12 55820622 55820622 + Missense_Mutation SNP G G C TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 12 55820622 55820622 G C SNP OR6C76 ENST00000328314 human ensembl 70_37 +1 known missense c.585 p.M195I 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C76 HGNC OR6C76 390326 genome.wustl.edu 37 12 55820808 55820808 + Silent SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 12 55820808 55820808 G A SNP OR6C76 ENST00000328314 human ensembl 70_37 +1 known silent c.771 p.V257 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C76 HGNC OR7E5P 219445 genome.wustl.edu 37 12 52501261 52501261 + RNA SNP G G T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 12 52501261 52501261 G T SNP OR7E5P ENST00000546390 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors OR7E5P HGNC PAX1 5075 genome.wustl.edu 37 20 21687070 21687070 + Missense_Mutation SNP C C G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 20 21687070 21687070 C G SNP PAX1 ENST00000444366 human ensembl 70_37 +1 novel missense c.209 p.S70C 0.202 NULL pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX1 HGNC PBLD 64081 genome.wustl.edu 37 10 70055968 70055968 + RNA DEL A A - TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 10 70055968 70055968 A - DEL PBLD ENST00000478192 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PBLD HGNC PBX3 5090 genome.wustl.edu 37 9 128729186 128729186 + RNA SNP G G T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 9 128729186 128729186 G T SNP PBX3 ENST00000492314 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors PBX3 HGNC PCSK7 9159 genome.wustl.edu 37 11 117078531 117078532 + RNA INS - - TTCA TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 11 117078531 117078532 - TTCA INS PCSK7 ENST00000533135 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors PCSK7 HGNC PDXK 8566 genome.wustl.edu 37 21 45165934 45165934 + RNA SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 21 45165934 45165934 G A SNP PDXK ENST00000468392 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors PDXK HGNC PIGQ 9091 genome.wustl.edu 37 16 628881 628881 + Missense_Mutation SNP C C G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 16 628881 628881 C G SNP PIGQ ENST00000026218 human ensembl 70_37 +1 known missense c.1166 p.S389W 1.000 pfam_GlcNAc_Gpi1 pfam_GlcNAc_Gpi1 - no_errors PIGQ HGNC PLEKHA1 59338 genome.wustl.edu 37 10 124189979 124189979 + RNA SNP A A G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 10 124189979 124189979 A G SNP PLEKHA1 ENST00000479786 human ensembl 70_37 +1 known rna NULL NULL 0.015 - - - no_errors PLEKHA1 HGNC PNO1 56902 genome.wustl.edu 37 2 68388847 68388847 + Silent SNP G G C TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 2 68388847 68388847 G C SNP PNO1 ENST00000263657 human ensembl 70_37 +1 known silent c.390 p.L130 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom - no_errors PNO1 HGNC PRKCG 5582 genome.wustl.edu 37 19 54406378 54406378 + Missense_Mutation SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 19 54406378 54406378 G A SNP PRKCG ENST00000540413 human ensembl 70_37 +1 known missense c.1627 p.V543I 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_Ca-dep,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd,prints_C2_dom - no_errors PRKCG HGNC PRRX1 5396 genome.wustl.edu 37 1 170688882 170688882 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 1 170688882 170688882 C T SNP PRRX1 ENST00000239461 human ensembl 70_37 +1 known missense c.257 p.S86L 1.000 superfamily_Homeodomain-like pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain - no_errors PRRX1 HGNC PSMB10 5699 genome.wustl.edu 37 16 67970623 67970626 + Frame_Shift_Del DEL CCCT CCCT - TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 CCCT CCCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 16 67970623 67970626 CCCT - DEL PSMB10 ENST00000358514 human ensembl 70_37 -1 known frame_shift_del c.30_27 p.G10fs 1.000:0.999:0.928:0.344 NULL pfam_Proteasome_sua/b,pfam_Proteasome_bsu_C,prints_Pept_T1A_subB - no_errors PSMB10 HGNC PTCHD3 374308 genome.wustl.edu 37 10 27702727 27702727 + Silent SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 10 27702727 27702727 C T SNP PTCHD3 ENST00000438700 human ensembl 70_37 -1 known silent c.453 p.A151 0.007 NULL pfam_Patched,pfscan_SSD - no_errors PTCHD3 HGNC PTEN 5728 genome.wustl.edu 37 10 89717661 89717661 + Nonsense_Mutation SNP C C G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 10 89717661 89717661 C G SNP PTEN ENST00000371953 human ensembl 70_37 +1 known nonsense c.686 p.S229* 1.000 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC PTPRF 5792 genome.wustl.edu 37 1 44070878 44070878 + Missense_Mutation SNP G G C TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 1 44070878 44070878 G C SNP PTPRF ENST00000359947 human ensembl 70_37 +1 known missense c.3153 p.Q1051H 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRF HGNC PUF60 22827 genome.wustl.edu 37 8 144904017 144904017 + Missense_Mutation SNP T T C TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 8 144904017 144904017 T C SNP PUF60 ENST00000526683 human ensembl 70_37 -1 known missense c.178 p.T60A 1.000 tigrfam_PolyU-bd pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PolyU-bd - no_errors PUF60 HGNC RAB11FIP1 80223 genome.wustl.edu 37 8 37734763 37734763 + Missense_Mutation SNP C C A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 8 37734763 37734763 C A SNP RAB11FIP1 ENST00000330843 human ensembl 70_37 -1 known missense c.678 p.L226F 1.000 NULL pfam_Rab-bd_FIP-RBD,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors RAB11FIP1 HGNC RAB11FIP3 9727 genome.wustl.edu 37 16 570765 570765 + Missense_Mutation SNP C C A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 16 570765 570765 C A SNP RAB11FIP3 ENST00000457159 human ensembl 70_37 +1 known missense c.2332 p.R778S 1.000 pfam_Rab-bd_FIP-RBD pfam_Rab-bd_FIP-RBD,pfscan_EF_HAND_2 - no_errors RAB11FIP3 HGNC RARB 5915 genome.wustl.edu 37 3 25542806 25542806 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 3 25542806 25542806 C T SNP RARB ENST00000404969 human ensembl 70_37 +1 known missense c.461 p.S154F 1.000 pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors RARB HGNC RASGRP2 10235 genome.wustl.edu 37 11 64507254 64507254 + Missense_Mutation SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 11 64507254 64507254 G A SNP RASGRP2 ENST00000377494 human ensembl 70_37 -1 known missense c.550 p.H184Y 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRP2 HGNC RASSF7 8045 genome.wustl.edu 37 11 561798 561798 + Silent SNP G G C TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 11 561798 561798 G C SNP RASSF7 ENST00000344375 human ensembl 70_37 +1 known silent c.30 p.L10 1.000 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc - no_errors RASSF7 HGNC RRBP1 6238 genome.wustl.edu 37 20 17639306 17639306 + Missense_Mutation SNP G G T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 20 17639306 17639306 G T SNP RRBP1 ENST00000246043 human ensembl 70_37 -1 known missense c.1847 p.P616Q 0.971 NULL pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom - no_errors RRBP1 HGNC RYR1 6261 genome.wustl.edu 37 19 38995490 38995490 + Missense_Mutation SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 19 38995490 38995490 G A SNP RYR1 ENST00000359596 human ensembl 70_37 +1 known missense c.8170 p.E2724K 1.000 NULL 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,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC SAPCD2 89958 genome.wustl.edu 37 9 139960103 139960105 + In_Frame_Del DEL CTC CTC - TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 9 139960103 139960105 CTC - DEL SAPCD2 ENST00000409687 human ensembl 70_37 -1 known in_frame_del c.702_700 p.E234in_frame_del 1.000:1.000:1.000 pfam_APC_dom pfam_APC_dom - no_errors SAPCD2 HGNC SBF1 6305 genome.wustl.edu 37 22 50902823 50902823 + Missense_Mutation SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 22 50902823 50902823 G A SNP SBF1 ENST00000380817 human ensembl 70_37 -1 known missense c.1684 p.R562W 0.986 pfam_SBF2 pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF1 HGNC SCFD2 152579 genome.wustl.edu 37 4 53752028 53752028 + Silent SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 4 53752028 53752028 G A SNP SCFD2 ENST00000401642 human ensembl 70_37 -1 known silent c.1848 p.S616 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors SCFD2 HGNC SEC24A 10802 genome.wustl.edu 37 5 134010893 134010893 + Silent SNP C C G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 5 134010893 134010893 C G SNP SEC24A ENST00000398844 human ensembl 70_37 +1 known silent c.1137 p.L379 0.999 NULL pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom - no_errors SEC24A HGNC SLC12A5 57468 genome.wustl.edu 37 20 44665926 44665926 + Missense_Mutation SNP C C G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 20 44665926 44665926 C G SNP SLC12A5 ENST00000454036 human ensembl 70_37 +1 known missense c.583 p.L195V 1.000 pfam_AA-permease_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A5 HGNC SLC17A7 57030 genome.wustl.edu 37 19 49934353 49934353 + Missense_Mutation SNP G G C TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 19 49934353 49934353 G C SNP SLC17A7 ENST00000221485 human ensembl 70_37 -1 known missense c.1308 p.I436M 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A7 HGNC SLC35E1 79939 genome.wustl.edu 37 19 16664607 16664607 + Silent SNP G G C TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 19 16664607 16664607 G C SNP SLC35E1 ENST00000595753 human ensembl 70_37 -1 known silent c.1116 p.L372 0.003 NULL pfam_DUF250,pfam_DMT,pfam_UAA - no_errors SLC35E1 HGNC SLC45A2 51151 genome.wustl.edu 37 5 33963886 33963886 + Nonsense_Mutation SNP G G T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 5 33963886 33963886 G T SNP SLC45A2 ENST00000296589 human ensembl 70_37 -1 known nonsense c.798 p.Y266* 0.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A2 HGNC SLC9A2 6549 genome.wustl.edu 37 2 103324666 103324666 + Missense_Mutation SNP C C G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 2 103324666 103324666 C G SNP SLC9A2 ENST00000233969 human ensembl 70_37 +1 known missense c.2157 p.F719L 0.996 prints_Na/H_exchanger_2 pfam_Cation/H_exchanger,prints_Na/H_exchanger_2,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A2 HGNC SLCO2A1 6578 genome.wustl.edu 37 3 133663963 133663963 + Missense_Mutation SNP C C G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 3 133663963 133663963 C G SNP SLCO2A1 ENST00000310926 human ensembl 70_37 -1 known missense c.1437 p.M479I 0.001 pfam_OA_transporter,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO2A1 HGNC SOCS2 8835 genome.wustl.edu 37 12 93968515 93968516 + Frame_Shift_Ins INS - - T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 12 93968515 93968516 - T INS SOCS2 ENST00000340600 human ensembl 70_37 +1 known frame_shift_ins c.157_158 p.M53fs 1.000:1.000 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2,prints_SH2 - no_errors SOCS2 HGNC SORCS1 114815 genome.wustl.edu 37 10 108466392 108466392 + Missense_Mutation SNP G G T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 10 108466392 108466392 G T SNP SORCS1 ENST00000344440 human ensembl 70_37 -1 known missense c.1144 p.L382M 1.000 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC SPARCL1 8404 genome.wustl.edu 37 4 88416150 88416150 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 4 88416150 88416150 C T SNP SPARCL1 ENST00000282470 human ensembl 70_37 -1 known missense c.184 p.D62N 0.918 pirsf_SPARC-like_p1 pfam_SPARC/Testican_Ca-bd-dom,pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Prot_inh_Kazal,pirsf_SPARC-like_p1,pfscan_EF_HAND_2 - no_errors SPARCL1 HGNC SPATA31D3 389762 genome.wustl.edu 37 9 84562977 84562977 + RNA SNP C C G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 9 84562977 84562977 C G SNP SPATA31D3 ENST00000334208 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SPATA31D3 HGNC SPINT1 6692 genome.wustl.edu 37 15 41146702 41146702 + Missense_Mutation SNP G G C TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 15 41146702 41146702 G C SNP SPINT1 ENST00000344051 human ensembl 70_37 +1 known missense c.1096 p.E366Q 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_Prot_inh_Kunz-m,pfam_MANSC_N,pfam_LDrepeatLR_classA_rpt,superfamily_Prot_inh_Kunz-m,superfamily_LDrepeatLR_classA_rpt,superfamily_PKD_dom,smart_MANSC_N,smart_Prot_inh_Kunz-m,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_MANSC,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors SPINT1 HGNC STAM2 10254 genome.wustl.edu 37 2 153004816 153004817 + Splice_Site INS - - A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 2 153004816 153004817 - A INS STAM2 ENST00000263904 human ensembl 70_37 -1 known splice_site_ins c.126-3_126-2 e3-2 1.000:0.002 - - - no_errors STAM2 HGNC STK11 6794 genome.wustl.edu 37 19 1218457 1218457 + Missense_Mutation SNP T T A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 19 1218457 1218457 T A SNP STK11 ENST00000326873 human ensembl 70_37 +1 known missense c.332 p.I111N 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STK11 HGNC STK11 6794 genome.wustl.edu 37 19 1218458 1218458 + Silent SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 19 1218458 1218458 C T SNP STK11 ENST00000326873 human ensembl 70_37 +1 known silent c.333 p.I111 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STK11 HGNC STK11 6794 genome.wustl.edu 37 19 1221966 1221966 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 19 1221966 1221966 C T SNP STK11 ENST00000326873 human ensembl 70_37 +1 known missense c.881 p.P294L 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STK11 HGNC TAP2 6891 genome.wustl.edu 37 6 32805780 32805780 + Silent SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 6 32805780 32805780 G A SNP TAP2 ENST00000374897 human ensembl 70_37 -1 known silent c.231 p.V77 0.997 prints_ABC_B3,tigrfam_Ag_transporter2 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_ABC_B3,prints_ABC_B2,tigrfam_Ag_transporter2 - no_errors TAP2 HGNC TAS2R1 50834 genome.wustl.edu 37 5 9629839 9629839 + Silent SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 5 9629839 9629839 G A SNP TAS2R1 ENST00000382492 human ensembl 70_37 -1 known silent c.306 p.F102 1.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R1 HGNC TCHH 7062 genome.wustl.edu 37 1 152083004 152083004 + Missense_Mutation SNP C C G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 1 152083004 152083004 C G SNP TCHH ENST00000368804 human ensembl 70_37 -1 known missense c.2689 p.E897Q 0.144 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors TCHH HGNC TENM4 26011 genome.wustl.edu 37 11 78381478 78381478 + Nonsense_Mutation SNP G G C TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 11 78381478 78381478 G C SNP TENM4 ENST00000278550 human ensembl 70_37 -1 known nonsense c.5912 p.S1971* 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC TGFB1I1 7041 genome.wustl.edu 37 16 31488298 31488298 + Silent SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 16 31488298 31488298 C T SNP TGFB1I1 ENST00000394863 human ensembl 70_37 +1 known silent c.1086 p.S362 1.000 pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM - no_errors TGFB1I1 HGNC THBS2 7058 genome.wustl.edu 37 6 169640669 169640669 + Missense_Mutation SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 6 169640669 169640669 G A SNP THBS2 ENST00000366787 human ensembl 70_37 -1 known missense c.910 p.L304F 0.955 NULL pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS2 HGNC THBS2 7058 genome.wustl.edu 37 6 169648967 169648967 + Missense_Mutation SNP C C G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 6 169648967 169648967 C G SNP THBS2 ENST00000366787 human ensembl 70_37 -1 known missense c.154 p.V52L 0.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS2 HGNC TIGD3 220359 genome.wustl.edu 37 11 65124400 65124400 + Nonsense_Mutation SNP C C A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 11 65124400 65124400 C A SNP TIGD3 ENST00000309880 human ensembl 70_37 +1 known nonsense c.1121 p.S374* 0.000 NULL pfam_HTH_CenpB_DNA-bd_dom,pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD3 HGNC TMEM102 284114 genome.wustl.edu 37 17 7340051 7340051 + Silent SNP G G T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 17 7340051 7340051 G T SNP TMEM102 ENST00000323206 human ensembl 70_37 +1 known silent c.753 p.P251 0.000 NULL NULL - no_errors TMEM102 HGNC TMEM131 23505 genome.wustl.edu 37 2 98388811 98388811 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 2 98388811 98388811 C T SNP TMEM131 ENST00000186436 human ensembl 70_37 -1 known missense c.4397 p.S1466N 1.000 NULL pfam_DUF3651_TMEM131 - no_errors TMEM131 HGNC TMEM167B 56900 genome.wustl.edu 37 1 109635591 109635591 + Silent SNP C C G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 1 109635591 109635591 C G SNP TMEM167B ENST00000338272 human ensembl 70_37 +1 known silent c.90 p.L30 0.998 pfam_DUF1242 pfam_DUF1242 - no_errors TMEM167B HGNC TNFRSF21 27242 genome.wustl.edu 37 6 47200714 47200714 + Silent SNP C C A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 6 47200714 47200714 C A SNP TNFRSF21 ENST00000296861 human ensembl 70_37 -1 known silent c.1755 p.V585 0.995 superfamily_DEATH-like pfam_Death,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_21 - no_errors TNFRSF21 HGNC TPR 7175 genome.wustl.edu 37 1 186296624 186296624 + Missense_Mutation SNP C C G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 1 186296624 186296624 C G SNP TPR ENST00000367478 human ensembl 70_37 -1 known missense c.5857 p.E1953Q 0.995 NULL pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC TRERF1 55809 genome.wustl.edu 37 6 42235961 42235961 + Frame_Shift_Del DEL G G - TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 6 42235961 42235961 G - DEL TRERF1 ENST00000541110 human ensembl 70_37 -1 known frame_shift_del c.1368 p.S457fs 0.206 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2 - no_errors TRERF1 HGNC TRPM5 29850 genome.wustl.edu 37 11 2442305 2442305 + Missense_Mutation SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 11 2442305 2442305 G A SNP TRPM5 ENST00000452833 human ensembl 70_37 -1 known missense c.422 p.S141L 0.983 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors TRPM5 HGNC TSPAN11 441631 genome.wustl.edu 37 12 31116776 31116776 + Missense_Mutation SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 12 31116776 31116776 G A SNP TSPAN11 ENST00000261177 human ensembl 70_37 +1 known missense c.100 p.V34I 0.937 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN11 HGNC TSPEAR 54084 genome.wustl.edu 37 21 45945555 45945555 + Silent SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 21 45945555 45945555 C T SNP TSPEAR ENST00000323084 human ensembl 70_37 -1 known silent c.1317 p.A439 0.696 pfam_EPTP,pfscan_EAR pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR - no_errors TSPEAR HGNC TSSC2 7261 genome.wustl.edu 37 11 3426097 3426097 + RNA SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 11 3426097 3426097 G A SNP TSSC2 ENST00000533775 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors TSSC2 HGNC TUBGCP2 10844 genome.wustl.edu 37 10 135096699 135096699 + Silent SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 10 135096699 135096699 G A SNP TUBGCP2 ENST00000543663 human ensembl 70_37 -1 known silent c.2256 p.G752 1.000 pfam_Spc97_Spc98 pfam_Spc97_Spc98,superfamily_Ocr - no_errors TUBGCP2 HGNC TXNRD1 7296 genome.wustl.edu 37 12 104682685 104682685 + Missense_Mutation SNP C C G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 12 104682685 104682685 C G SNP TXNRD1 ENST00000378070 human ensembl 70_37 +1 known missense c.128 p.S43C 0.000 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,superfamily_FAD/NAD-linked_Rdtase_dimer,superfamily_Thioredoxin-like_fold,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Thioredoxin/glutathione_Rdtase - no_errors TXNRD1 HGNC UBQLN1 29979 genome.wustl.edu 37 9 86276830 86276830 + Missense_Mutation SNP G G C TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 9 86276830 86276830 G C SNP UBQLN1 ENST00000376395 human ensembl 70_37 -1 known missense c.1642 p.Q548E 1.000 pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk pfam_Ubiquitin,pfam_SUMO,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN1 HGNC UGT1A1 54658 genome.wustl.edu 37 2 234669139 234669139 + Missense_Mutation SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 2 234669139 234669139 G A SNP UGT1A1 ENST00000305208 human ensembl 70_37 +1 known missense c.206 p.R69K 0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A1 HGNC UPF3B 65109 genome.wustl.edu 37 X 118971800 118971800 + Missense_Mutation SNP C C G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 X 118971800 118971800 C G SNP UPF3B ENST00000276201 human ensembl 70_37 -1 known missense c.1222 p.E408Q 0.959 NULL pfam_Nonsense_mediated_decay_UPF3 - no_errors UPF3B HGNC USP24 23358 genome.wustl.edu 37 1 55538465 55538465 + Missense_Mutation SNP C C G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 1 55538465 55538465 C G SNP USP24 ENST00000294383 human ensembl 70_37 -1 known missense c.7596 p.Q2532H 1.000 NULL pfam_Peptidase_C19,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19 - no_errors USP24 HGNC USP32 84669 genome.wustl.edu 37 17 58303502 58303502 + Missense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 17 58303502 58303502 C T SNP USP32 ENST00000300896 human ensembl 70_37 -1 known missense c.1330 p.E444K 0.984 pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_EF_hand_Ca-bd,smart_Pept_C19_DUSP,pfscan_EF_HAND_2,pfscan_Peptidase_C19,prints_Recoverin - no_errors USP32 HGNC USP42 84132 genome.wustl.edu 37 7 6189273 6189273 + Silent SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 7 6189273 6189273 G A SNP USP42 ENST00000306177 human ensembl 70_37 +1 known silent c.1446 p.S482 0.216 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP42 HGNC USP51 158880 genome.wustl.edu 37 X 55515232 55515232 + Silent SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 X 55515232 55515232 C T SNP USP51 ENST00000500968 human ensembl 70_37 -1 known silent c.141 p.A47 0.000 NULL pfam_Peptidase_C19,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP51 HGNC UTP3 57050 genome.wustl.edu 37 4 71554620 71554622 + In_Frame_Del DEL GAG GAG - TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 4 71554620 71554622 GAG - DEL UTP3 ENST00000254803 human ensembl 70_37 +1 known in_frame_del c.226_228 p.E79in_frame_del 0.044:0.001:0.001 NULL pfam_Sas10_C_dom,pfam_Sas10/Utp3/C1D - no_errors UTP3 HGNC VSTM2L 128434 genome.wustl.edu 37 20 36572449 36572449 + Missense_Mutation SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 20 36572449 36572449 G A SNP VSTM2L ENST00000373461 human ensembl 70_37 +1 known missense c.409 p.E137K 1.000 pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like - no_errors VSTM2L HGNC WWP2 11060 genome.wustl.edu 37 16 69971535 69971535 + Nonsense_Mutation SNP C C T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 16 69971535 69971535 C T SNP WWP2 ENST00000356003 human ensembl 70_37 +1 known nonsense c.2323 p.Q775* 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_Rsp5_WWP,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_WW_Rsp5_WWP - no_errors WWP2 HGNC ZFP41 286128 genome.wustl.edu 37 8 144332125 144332125 + Missense_Mutation SNP G G C TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 8 144332125 144332125 G C SNP ZFP41 ENST00000330701 human ensembl 70_37 +1 known missense c.112 p.E38Q 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP41 HGNC ZNF207 7756 genome.wustl.edu 37 17 30696449 30696449 + Missense_Mutation SNP A A T TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 17 30696449 30696449 A T SNP ZNF207 ENST00000394670 human ensembl 70_37 +1 known missense c.1300 p.M434L 1.000 NULL smart_Znf_C2H2-like - no_errors ZNF207 HGNC ZNF582 147948 genome.wustl.edu 37 19 56895986 56895986 + Missense_Mutation SNP C C A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 19 56895986 56895986 C A SNP ZNF582 ENST00000301310 human ensembl 70_37 -1 known missense c.800 p.S267I 0.000 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 ZNF582 HGNC ZNF597 146434 genome.wustl.edu 37 16 3490834 3490834 + Missense_Mutation SNP C C G TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 16 3490834 3490834 C G SNP ZNF597 ENST00000301744 human ensembl 70_37 -1 known missense c.133 p.E45Q 0.021 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF597 HGNC ZNF653 115950 genome.wustl.edu 37 19 11597904 11597904 + Missense_Mutation SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7f762575-e13b-4901-afd9-c1eb92ff718f ed9e7b75-2998-4c55-8fc3-7c2ade72eb95 19 11597904 11597904 G A SNP ZNF653 ENST00000293771 human ensembl 70_37 -1 known missense c.1241 p.T414M 0.029 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF653 HGNC