Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF UBE4B 0 genome.wustl.edu 37 1 10228247 10228247 + Silent SNP C C A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 1 10228247 10228247 C A SNP UBE4B ENST00000343090 human ensembl 74_37 +1 known silent c.3252 p.R1084 0.997 pfam_Ub_conjug_fac_E4_core pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain - no_errors UBE4B HGNC ENSG00000130939 34 0 0 22 4 15.3846 KIF1B 0 genome.wustl.edu 37 1 10363437 10363437 + Missense_Mutation SNP A A G TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 1 10363437 10363437 A G SNP KIF1B ENST00000377083 human ensembl 74_37 +1 known missense c.2194 p.I732V 1.000 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC ENSG00000054523 40 0 0 30 9 23.0769 DENND2C 0 genome.wustl.edu 37 1 115130565 115130565 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 1 115130565 115130565 G A SNP DENND2C ENST00000393274 human ensembl 74_37 -1 known missense c.2440 p.L814F 1.000 pfam_dDENN_dom,smart_dDENN_dom,pfscan_dDENN_dom pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2C HGNC ENSG00000175984 19 0 0 21 3 12.5 TSHB 0 genome.wustl.edu 37 1 115576036 115576036 + Missense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 1 115576036 115576036 C T SNP TSHB ENST00000256592 human ensembl 74_37 +1 known missense c.53 p.A18V 0.499 smart_Gonadotropin_bsu pfam_Cys_knot,smart_Gonadotropin_bsu - no_errors TSHB HGNC ENSG00000134200 52 0 0 44 8 15.3846 BCL9 0 genome.wustl.edu 37 1 147084944 147084944 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 1 147084944 147084944 G A SNP BCL9 ENST00000234739 human ensembl 74_37 +1 known missense c.316 p.D106N 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC ENSG00000116128 33 0 0 34 6 15 CD1C 0 genome.wustl.edu 37 1 158259915 158259915 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 1 158259915 158259915 G A SNP CD1C ENST00000368170 human ensembl 74_37 +1 known missense c.61 p.A21T 0.000 NULL pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1C HGNC ENSG00000158481 41 0 0 42 3 6.66667 SPTA1 0 genome.wustl.edu 37 1 158650415 158650415 + Silent SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 1 158650415 158650415 C T SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known silent c.636 p.G212 0.343 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 52 0 0 60 7 10.4478 NCSTN 0 genome.wustl.edu 37 1 160321051 160321051 + Missense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 1 160321051 160321051 C T SNP NCSTN ENST00000294785 human ensembl 74_37 +1 known missense c.622 p.P208S 0.925 NULL pfam_Nicastrin - no_errors NCSTN HGNC ENSG00000162736 36 0 0 29 7 19.4444 ESPNP 0 genome.wustl.edu 37 1 17017717 17017717 + RNA SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 1 17017717 17017717 C T SNP ESPNP ENST00000492551 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ESPNP HGNC ENSG00000268869 30 0 0 24 4 14.2857 ESPNP 0 genome.wustl.edu 37 1 17017734 17017734 + RNA SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 1 17017734 17017734 C T SNP ESPNP ENST00000492551 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ESPNP HGNC ENSG00000268869 21 0 0 18 4 18.1818 CFHR4 0 genome.wustl.edu 37 1 196874314 196874314 + Missense_Mutation SNP A A C TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 1 196874314 196874314 A C SNP CFHR4 ENST00000367416 human ensembl 74_37 +1 known missense c.330 p.E110D 0.001 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR4 HGNC ENSG00000134365 28 0 0 28 6 17.6471 ZBTB41 0 genome.wustl.edu 37 1 197168618 197168618 + Missense_Mutation SNP T T C TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 1 197168618 197168618 T C SNP ZBTB41 ENST00000367405 human ensembl 74_37 -1 known missense c.986 p.N329S 0.037 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB41 HGNC ENSG00000177888 47 0 0 36 8 18.1818 CR2 0 genome.wustl.edu 37 1 207642548 207642548 + Missense_Mutation SNP T T C TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 1 207642548 207642548 T C SNP CR2 ENST00000367057 human ensembl 74_37 +1 known missense c.788 p.V263A 0.023 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR2 HGNC ENSG00000117322 55 0 0 63 12 16 PTPN14 0 genome.wustl.edu 37 1 214556785 214556785 + Missense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 1 214556785 214556785 C T SNP PTPN14 ENST00000366956 human ensembl 74_37 -1 known missense c.2413 p.G805S 0.988 pirsf_Tyr_Pase_non-rcpt_typ-14/21 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN14 HGNC ENSG00000152104 46 0 0 36 3 7.69231 HSPG2 0 genome.wustl.edu 37 1 22188486 22188486 + Missense_Mutation SNP C C A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 1 22188486 22188486 C A SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.4863 p.E1621D 1.000 pfam_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF_laminin pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 72 0 0 39 12 23.5294 HEATR1 0 genome.wustl.edu 37 1 236735824 236735824 + Silent SNP T T C TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 1 236735824 236735824 T C SNP HEATR1 ENST00000366582 human ensembl 74_37 -1 known silent c.3594 p.E1198 0.997 superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC ENSG00000119285 26 0 0 15 3 16.6667 OR1C1 0 genome.wustl.edu 37 1 247921329 247921329 + Missense_Mutation SNP C C A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 1 247921329 247921329 C A SNP OR1C1 ENST00000408896 human ensembl 74_37 -1 known missense c.380 p.C127F 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1C1 HGNC ENSG00000221888 32 0 0 26 4 13.3333 PTPRU 0 genome.wustl.edu 37 1 29639111 29639111 + Silent SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 1 29639111 29639111 G A SNP PTPRU ENST00000345512 human ensembl 74_37 +1 known silent c.3150 p.A1050 0.061 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRU HGNC ENSG00000060656 25 0 0 14 5 26.3158 PRDM16 0 genome.wustl.edu 37 1 3335280 3335280 + Missense_Mutation SNP A A T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 1 3335280 3335280 A T SNP PRDM16 ENST00000270722 human ensembl 74_37 +1 known missense c.2911 p.R971W 1.000 pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM16 HGNC ENSG00000142611 40 0 0 29 8 21.6216 MEGF6 0 genome.wustl.edu 37 1 3409280 3409280 + Missense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 1 3409280 3409280 C T SNP MEGF6 ENST00000356575 human ensembl 74_37 -1 known missense c.4439 p.G1480E 0.000 smart_EG-like_dom,smart_EGF_laminin pfam_EGF_laminin,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MEGF6 HGNC ENSG00000162591 27 0 0 19 10 34.4828 HIVEP3 0 genome.wustl.edu 37 1 42047444 42047444 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 1 42047444 42047444 G A SNP HIVEP3 ENST00000247584 human ensembl 74_37 -1 known missense c.3025 p.R1009C 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 83 0 0 48 9 15.7895 CYP4A22 0 genome.wustl.edu 37 1 47610317 47610317 + Silent SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 1 47610317 47610317 C T SNP CYP4A22 ENST00000371891 human ensembl 74_37 +1 known silent c.993 p.S331 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV - no_errors CYP4A22 HGNC ENSG00000162365 54 0 0 52 6 10.3448 ELAVL4 0 genome.wustl.edu 37 1 50666696 50666696 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 1 50666696 50666696 G A SNP ELAVL4 ENST00000371821 human ensembl 74_37 +1 known missense c.1004 p.R335H 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_ELAD_HUD_SF pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL4 HGNC ENSG00000162374 59 0 0 51 7 12.069 HPSE2 0 genome.wustl.edu 37 10 100503772 100503772 + Missense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 10 100503772 100503772 C T SNP HPSE2 ENST00000370552 human ensembl 74_37 -1 known missense c.652 p.G218R 1.000 pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF - no_errors HPSE2 HGNC ENSG00000172987 28 0 0 11 3 21.4286 SEMA4G 0 genome.wustl.edu 37 10 102740027 102740027 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 10 102740027 102740027 G A SNP SEMA4G ENST00000210633 human ensembl 74_37 +1 known missense c.1277 p.R426H 0.960 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA4G HGNC ENSG00000095539 31 0 0 30 4 11.7647 PSD 0 genome.wustl.edu 37 10 104176654 104176654 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 10 104176654 104176654 G A SNP PSD ENST00000020673 human ensembl 74_37 -1 known missense c.142 p.R48W 0.033 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD HGNC ENSG00000059915 48 0 0 46 11 19.2982 MCMBP 0 genome.wustl.edu 37 10 121600366 121600366 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 10 121600366 121600366 G A SNP MCMBP ENST00000360003 human ensembl 74_37 -1 known missense c.1237 p.L413F 1.000 pfam_MCM_complex-bd pfam_MCM_complex-bd - no_errors MCMBP HGNC ENSG00000197771 18 0 0 13 2 13.3333 DPYSL4 0 genome.wustl.edu 37 10 134004331 134004331 + Silent SNP C C A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 10 134004331 134004331 C A SNP DPYSL4 ENST00000338492 human ensembl 74_37 +1 known silent c.120 p.G40 0.001 superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL4 HGNC ENSG00000151640 16 0 0 20 5 20 CUBN 0 genome.wustl.edu 37 10 17061890 17061890 + Silent SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 10 17061890 17061890 G A SNP CUBN ENST00000377833 human ensembl 74_37 -1 known silent c.4110 p.L1370 0.797 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 39 0 0 23 6 20.6897 MKX 0 genome.wustl.edu 37 10 28023604 28023604 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 10 28023604 28023604 G A SNP MKX ENST00000375790 human ensembl 74_37 -1 known missense c.619 p.R207W 0.001 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors MKX HGNC ENSG00000150051 50 0 0 41 5 10.8696 CHAT 0 genome.wustl.edu 37 10 50830161 50830161 + Silent SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 10 50830161 50830161 C T SNP CHAT ENST00000337653 human ensembl 74_37 +1 known silent c.717 p.I239 1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CHAT HGNC ENSG00000070748 109 0 0 81 18 18.1818 TET1 0 genome.wustl.edu 37 10 70333412 70333412 + Silent SNP A A G TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 10 70333412 70333412 A G SNP TET1 ENST00000373644 human ensembl 74_37 +1 known silent c.1317 p.P439 0.010 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 45 0 0 27 5 15.625 P4HA1 0 genome.wustl.edu 37 10 74804763 74804763 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 10 74804763 74804763 G A SNP P4HA1 ENST00000307116 human ensembl 74_37 -1 known missense c.1124 p.T375M 1.000 smart_Pro_4_hyd_alph pfam_Pro_4_hyd_alph_N,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors P4HA1 HGNC ENSG00000122884 34 0 0 24 5 17.2414 VCL 0 genome.wustl.edu 37 10 75874029 75874029 + Missense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 10 75874029 75874029 C T SNP VCL ENST00000211998 human ensembl 74_37 +1 known missense c.3037 p.R1013W 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin - no_errors VCL HGNC ENSG00000035403 38 0 0 36 2 5.26316 NRG3 0 genome.wustl.edu 37 10 84744956 84744956 + Silent SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 10 84744956 84744956 C T SNP NRG3 ENST00000404547 human ensembl 74_37 +1 known silent c.1758 p.D586 1.000 NULL pfscan_EG-like_dom - no_errors NRG3 HGNC ENSG00000185737 138 0 0 93 20 17.6991 LRIT2 0 genome.wustl.edu 37 10 85982145 85982145 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 10 85982145 85982145 G A SNP LRIT2 ENST00000538192 human ensembl 74_37 -1 known missense c.1214 p.T405I 1.000 superfamily_Fibronectin_type3 pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIT2 HGNC ENSG00000204033 29 0 0 27 4 12.9032 GRID1 0 genome.wustl.edu 37 10 87615903 87615903 + Silent SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 10 87615903 87615903 G A SNP GRID1 ENST00000327946 human ensembl 74_37 -1 known silent c.996 p.N332 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID1 HGNC ENSG00000182771 40 0 0 37 8 17.7778 POU2F3 0 genome.wustl.edu 37 11 120168972 120168972 + Splice_Site SNP A A G TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 11 120168972 120168972 A G SNP POU2F3 ENST00000260264 human ensembl 74_37 +1 known splice_site c.139-2 e4-2 1.000 - - - no_errors POU2F3 HGNC ENSG00000137709 244 0 0 163 43 20.8738 PANX3 0 genome.wustl.edu 37 11 124481615 124481615 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 11 124481615 124481615 G A SNP PANX3 ENST00000284288 human ensembl 74_37 +1 known missense c.163 p.A55T 1.000 pfam_Innexin,pfscan_Innexin pfam_Innexin,pfscan_Innexin - no_errors PANX3 HGNC ENSG00000154143 40 0 0 21 3 12.5 KCNA4 0 genome.wustl.edu 37 11 30033593 30033593 + Silent SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 11 30033593 30033593 G A SNP KCNA4 ENST00000328224 human ensembl 74_37 -1 known silent c.633 p.Y211 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv1 pfam_K_chnl_volt-dep_Kv1.4_TID,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA4 HGNC ENSG00000182255 27 0 0 22 3 12 MYBPC3 0 genome.wustl.edu 37 11 47361309 47361309 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 11 47361309 47361309 G A SNP MYBPC3 ENST00000399249 human ensembl 74_37 -1 known missense c.1960 p.R654C 1.000 pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPC3 HGNC ENSG00000134571 29 0 0 26 5 16.129 OR4C46 0 genome.wustl.edu 37 11 51515980 51515980 + Missense_Mutation SNP A A T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 11 51515980 51515980 A T SNP OR4C46 ENST00000328188 human ensembl 74_37 +1 known missense c.699 p.K233N 0.987 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C46 HGNC ENSG00000185926 26 0 0 21 8 27.5862 OR5W2 0 genome.wustl.edu 37 11 55681708 55681708 + Silent SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 11 55681708 55681708 C T SNP OR5W2 ENST00000344514 human ensembl 74_37 -1 known silent c.351 p.V117 0.946 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5W2 HGNC ENSG00000187612 42 0 0 29 5 14.7059 OR5M1 0 genome.wustl.edu 37 11 56380614 56380614 + Missense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 11 56380614 56380614 C T SNP OR5M1 ENST00000526538 human ensembl 74_37 -1 known missense c.365 p.R122H 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M1 HGNC ENSG00000255012 35 0 0 27 3 10 TMEM132A 0 genome.wustl.edu 37 11 60702763 60702763 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 11 60702763 60702763 G A SNP TMEM132A ENST00000005286 human ensembl 74_37 +1 known missense c.1879 p.A627T 0.996 NULL NULL - no_errors TMEM132A HGNC ENSG00000006118 10 0 0 5 3 37.5 AHNAK 0 genome.wustl.edu 37 11 62293791 62293791 + Missense_Mutation SNP T T C TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 11 62293791 62293791 T C SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known missense c.8098 p.M2700V 0.155 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 126 0 0 107 6 5.30973 AHNAK 0 genome.wustl.edu 37 11 62297323 62297323 + Silent SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 11 62297323 62297323 G A SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known silent c.4566 p.G1522 0.955 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 142 0 0 134 24 15.1899 GPR152 0 genome.wustl.edu 37 11 67219257 67219257 + Silent SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 11 67219257 67219257 G A SNP GPR152 ENST00000312457 human ensembl 74_37 -1 known silent c.939 p.F313 0.942 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR152 HGNC ENSG00000175514 66 0 0 44 11 20 CLNS1A 0 genome.wustl.edu 37 11 77340917 77340917 + Silent SNP T T C TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 11 77340917 77340917 T C SNP CLNS1A ENST00000525428 human ensembl 74_37 -1 known silent c.153 p.G51 0.998 NULL prints_ICln_channel - no_errors CLNS1A HGNC ENSG00000074201 28 0 0 25 6 19.3548 SCUBE2 0 genome.wustl.edu 37 11 9047254 9047254 + Missense_Mutation SNP T T C TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 11 9047254 9047254 T C SNP SCUBE2 ENST00000457346 human ensembl 74_37 -1 known missense c.2849 p.Y950C 0.993 superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors SCUBE2 HGNC ENSG00000175356 44 0 0 30 6 16.6667 NUAK1 0 genome.wustl.edu 37 12 106461416 106461416 + Missense_Mutation SNP C C A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 12 106461416 106461416 C A SNP NUAK1 ENST00000261402 human ensembl 74_37 -1 known missense c.1150 p.A384S 0.021 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors NUAK1 HGNC ENSG00000074590 64 0 0 52 9 14.7541 WSCD2 0 genome.wustl.edu 37 12 108634186 108634186 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 12 108634186 108634186 G A SNP WSCD2 ENST00000261400 human ensembl 74_37 +1 known missense c.1210 p.G404S 1.000 superfamily_P-loop_NTPase pfam_WSC_carb-bd,superfamily_P-loop_NTPase,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd - no_errors WSCD2 HGNC ENSG00000075035 144 1 0.689655 125 27 17.7632 UBE3B 0 genome.wustl.edu 37 12 109945375 109945375 + Missense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 12 109945375 109945375 C T SNP UBE3B ENST00000342494 human ensembl 74_37 +1 known missense c.1457 p.T486I 1.000 NULL pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3B HGNC ENSG00000151148 43 0 0 36 9 20 ATXN2 0 genome.wustl.edu 37 12 111908438 111908438 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 12 111908438 111908438 G A SNP ATXN2 ENST00000377617 human ensembl 74_37 -1 known missense c.3107 p.T1036M 0.996 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2 HGNC ENSG00000204842 50 0 0 51 10 16.3934 SDSL 0 genome.wustl.edu 37 12 113866986 113866986 + Missense_Mutation SNP C C A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 12 113866986 113866986 C A SNP SDSL ENST00000345635 human ensembl 74_37 +1 known missense c.236 p.A79D 0.998 pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF - no_errors SDSL HGNC ENSG00000139410 32 0 0 38 3 7.31707 GCN1L1 0 genome.wustl.edu 37 12 120621399 120621399 + Silent SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 12 120621399 120621399 C T SNP GCN1L1 ENST00000300648 human ensembl 74_37 -1 known silent c.399 p.K133 1.000 NULL pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors GCN1L1 HGNC ENSG00000089154 49 0 0 63 10 13.6986 TMEM132D 0 genome.wustl.edu 37 12 129559126 129559126 + Missense_Mutation SNP T T G TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 12 129559126 129559126 T G SNP TMEM132D ENST00000422113 human ensembl 74_37 -1 known missense c.2594 p.K865T 0.001 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 47 0 0 22 7 24.1379 ULK1 0 genome.wustl.edu 37 12 132396496 132396496 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 12 132396496 132396496 G A SNP ULK1 ENST00000321867 human ensembl 74_37 +1 known missense c.958 p.E320K 1.000 superfamily_Kinase-like_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK1 HGNC ENSG00000177169 38 0 0 38 13 25.4902 RECQL 0 genome.wustl.edu 37 12 21644547 21644547 + Silent SNP T T C TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 12 21644547 21644547 T C SNP RECQL ENST00000421138 human ensembl 74_37 -1 known silent c.120 p.K40 0.001 NULL pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_RQC_domain,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL HGNC ENSG00000004700 21 0 0 19 4 17.3913 SDR9C7 0 genome.wustl.edu 37 12 57317711 57317711 + Missense_Mutation SNP G G T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 12 57317711 57317711 G T SNP SDR9C7 ENST00000293502 human ensembl 74_37 -1 known missense c.848 p.A283D 1.000 NULL pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors SDR9C7 HGNC ENSG00000170426 28 0 0 33 9 21.4286 GRIP1 0 genome.wustl.edu 37 12 66765682 66765682 + Missense_Mutation SNP A A T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 12 66765682 66765682 A T SNP GRIP1 ENST00000359742 human ensembl 74_37 -1 known missense c.2804 p.M935K 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GRIP1 HGNC ENSG00000155974 23 0 0 15 5 25 CAND1 0 genome.wustl.edu 37 12 67696319 67696319 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 12 67696319 67696319 G A SNP CAND1 ENST00000545606 human ensembl 74_37 +1 known missense c.1217 p.R406H 1.000 superfamily_ARM-type_fold pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold - no_errors CAND1 HGNC ENSG00000111530 65 0 0 52 10 16.129 GALNT4 0 genome.wustl.edu 37 12 89917407 89917407 + Missense_Mutation SNP G G C TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 12 89917407 89917407 G C SNP GALNT4 ENST00000529983 human ensembl 74_37 -1 known missense c.920 p.P307R 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT4 HGNC ENSG00000257594 65 0 0 67 19 22.093 ARHGEF7 0 genome.wustl.edu 37 13 111862258 111862258 + Missense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 13 111862258 111862258 C T SNP ARHGEF7 ENST00000375741 human ensembl 74_37 +1 known missense c.440 p.S147L 1.000 superfamily_CH-domain pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_CH-domain,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain - no_errors ARHGEF7 HGNC ENSG00000102606 97 0 0 107 16 13.0081 TMCO3 0 genome.wustl.edu 37 13 114203987 114203987 + RNA SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 13 114203987 114203987 G A SNP TMCO3 ENST00000460039 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TMCO3 HGNC ENSG00000150403 11 0 0 6 3 33.3333 WASF3 0 genome.wustl.edu 37 13 27255334 27255334 + Missense_Mutation SNP G G T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 13 27255334 27255334 G T SNP WASF3 ENST00000335327 human ensembl 74_37 +1 known missense c.860 p.R287L 1.000 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF3 HGNC ENSG00000132970 48 0 0 52 14 21.2121 WASF3 0 genome.wustl.edu 37 13 27256945 27256945 + Silent SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 13 27256945 27256945 G A SNP WASF3 ENST00000335327 human ensembl 74_37 +1 known silent c.1185 p.P395 0.008 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF3 HGNC ENSG00000132970 29 0 0 36 4 10 DACH1 0 genome.wustl.edu 37 13 72255950 72255950 + Missense_Mutation SNP G G T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 13 72255950 72255950 G T SNP DACH1 ENST00000359684 human ensembl 74_37 -1 known missense c.947 p.S316Y 1.000 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH1 HGNC ENSG00000165659 41 0 0 24 3 11.1111 SLITRK6 0 genome.wustl.edu 37 13 86368839 86368839 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 13 86368839 86368839 G A SNP SLITRK6 ENST00000400286 human ensembl 74_37 -1 known missense c.1805 p.T602M 0.997 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK6 HGNC ENSG00000184564 47 0 0 47 12 20.339 MYH7 0 genome.wustl.edu 37 14 23887536 23887536 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 14 23887536 23887536 G A SNP MYH7 ENST00000355349 human ensembl 74_37 -1 known missense c.4052 p.T1351M 0.989 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 50 0 0 38 5 11.6279 RDH12 0 genome.wustl.edu 37 14 68191269 68191269 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 14 68191269 68191269 G A SNP RDH12 ENST00000267502 human ensembl 74_37 +1 known missense c.148 p.G50S 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors RDH12 HGNC ENSG00000139988 40 0 0 25 8 24.2424 AREL1 0 genome.wustl.edu 37 14 75140795 75140795 + Missense_Mutation SNP A A C TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 14 75140795 75140795 A C SNP AREL1 ENST00000356357 human ensembl 74_37 -1 known missense c.1100 p.F367C 1.000 NULL pfam_HECT,pfam_Filamin/ABP280_repeat-like,superfamily_HECT,superfamily_Ig_E-set,smart_HECT,pfscan_Filamin/ABP280_repeat-like,pfscan_HECT - no_errors AREL1 HGNC ENSG00000119682 10 0 0 10 7 41.1765 TMEM63C 0 genome.wustl.edu 37 14 77710781 77710781 + Silent SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 14 77710781 77710781 C T SNP TMEM63C ENST00000298351 human ensembl 74_37 +1 known silent c.1431 p.L477 0.000 pfam_DUF221 pfam_DUF221 - no_errors TMEM63C HGNC ENSG00000165548 73 0 0 57 8 12.3077 NRXN3 0 genome.wustl.edu 37 14 79175849 79175849 + Missense_Mutation SNP A A T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 14 79175849 79175849 A T SNP NRXN3 ENST00000554738 human ensembl 74_37 +1 known missense c.1505 p.K502I 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 69 0 0 49 14 22.2222 MKRN3 0 genome.wustl.edu 37 15 23812235 23812235 + Missense_Mutation SNP G G T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 15 23812235 23812235 G T SNP MKRN3 ENST00000314520 human ensembl 74_37 +1 known missense c.1306 p.G436W 0.258 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors MKRN3 HGNC ENSG00000179455 49 0 0 27 6 18.1818 NPAP1 0 genome.wustl.edu 37 15 24923936 24923936 + Missense_Mutation SNP T T A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 15 24923936 24923936 T A SNP NPAP1 ENST00000329468 human ensembl 74_37 +1 known missense c.2922 p.N974K 0.000 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 23 0 0 8 4 33.3333 CASC5 0 genome.wustl.edu 37 15 40914746 40914746 + Missense_Mutation SNP A A G TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 15 40914746 40914746 A G SNP CASC5 ENST00000346991 human ensembl 74_37 +1 known missense c.2362 p.M788V 0.999 NULL NULL - no_errors CASC5 HGNC ENSG00000137812 21 0 0 15 3 16.6667 SPATA5L1 0 genome.wustl.edu 37 15 45697549 45697549 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 15 45697549 45697549 G A SNP SPATA5L1 ENST00000305560 human ensembl 74_37 +1 known missense c.1121 p.R374K 0.998 superfamily_P-loop_NTPase pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors SPATA5L1 HGNC ENSG00000171763 32 0 0 19 3 13.6364 AP4E1 0 genome.wustl.edu 37 15 51250863 51250863 + Missense_Mutation SNP A A T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 15 51250863 51250863 A T SNP AP4E1 ENST00000261842 human ensembl 74_37 +1 known missense c.1723 p.I575F 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP4_complex_esu pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_bsu_C,superfamily_ARM-type_fold,pirsf_AP4_complex_esu - no_errors AP4E1 HGNC ENSG00000081014 49 0 0 48 13 21.3115 ZNF609 0 genome.wustl.edu 37 15 64968058 64968058 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 15 64968058 64968058 G A SNP ZNF609 ENST00000326648 human ensembl 74_37 +1 known missense c.3005 p.R1002Q 1.000 NULL pfscan_Znf_C2H2 - no_errors ZNF609 HGNC ENSG00000180357 142 0 0 88 20 18.5185 PML 0 genome.wustl.edu 37 15 74290464 74290464 + Silent SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 15 74290464 74290464 G A SNP PML ENST00000268058 human ensembl 74_37 +1 known silent c.249 p.A83 0.000 smart_Znf_RING,pfscan_Znf_RING pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors PML HGNC ENSG00000140464 23 0 0 27 4 12.9032 CACNA1H 0 genome.wustl.edu 37 16 1245065 1245065 + Missense_Mutation SNP G G C TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 16 1245065 1245065 G C SNP CACNA1H ENST00000348261 human ensembl 74_37 +1 known missense c.393 p.E131D 1.000 prints_VDCC_T_a1su pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 96 0 0 71 11 13.4146 CREBBP 0 genome.wustl.edu 37 16 3786141 3786141 + Missense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 16 3786141 3786141 C T SNP CREBBP ENST00000262367 human ensembl 74_37 -1 known missense c.4624 p.G1542S 1.000 pfam_Histone_H3-K56_AcTrfase_RTT109 pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 40 0 0 39 10 20.4082 GLIS2 0 genome.wustl.edu 37 16 4384894 4384894 + Silent SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 16 4384894 4384894 C T SNP GLIS2 ENST00000262366 human ensembl 74_37 +1 known silent c.438 p.A146 0.431 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS2 HGNC ENSG00000126603 52 0 0 37 9 19.5652 LONP2 0 genome.wustl.edu 37 16 48385682 48385682 + Missense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 16 48385682 48385682 C T SNP LONP2 ENST00000285737 human ensembl 74_37 +1 known missense c.2528 p.T843I 0.984 NULL pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_P-loop_NTPase,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Lon_bac/euk-typ - no_errors LONP2 HGNC ENSG00000102910 26 0 0 17 5 22.7273 ZNF423 0 genome.wustl.edu 37 16 49670153 49670153 + Silent SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 16 49670153 49670153 C T SNP ZNF423 ENST00000262383 human ensembl 74_37 -1 known silent c.2910 p.S970 0.462 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF423 HGNC ENSG00000102935 21 0 0 18 7 28 TOX3 0 genome.wustl.edu 37 16 52473731 52473731 + Silent SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 16 52473731 52473731 G A SNP TOX3 ENST00000219746 human ensembl 74_37 -1 known silent c.1137 p.L379 0.997 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX3 HGNC ENSG00000103460 118 0 0 108 33 23.4043 IRX5 0 genome.wustl.edu 37 16 54966510 54966510 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 16 54966510 54966510 G A SNP IRX5 ENST00000394636 human ensembl 74_37 +1 known missense c.350 p.R117Q 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX5 HGNC ENSG00000176842 67 0 0 47 10 17.5439 EFCAB5 0 genome.wustl.edu 37 17 28419089 28419089 + Missense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 17 28419089 28419089 C T SNP EFCAB5 ENST00000394835 human ensembl 74_37 +1 known missense c.4138 p.R1380C 0.074 NULL pfscan_EF_hand_dom - no_errors EFCAB5 HGNC ENSG00000176927 12 0 0 24 10 29.4118 ERBB2 0 genome.wustl.edu 37 17 37880261 37880261 + Missense_Mutation SNP G G T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 17 37880261 37880261 G T SNP ERBB2 ENST00000269571 human ensembl 74_37 +1 known missense c.2305 p.D769Y 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB2 HGNC ENSG00000141736 14 0 0 13 16 55.1724 CACNA1G 0 genome.wustl.edu 37 17 48684262 48684262 + Missense_Mutation SNP C C G TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 17 48684262 48684262 C G SNP CACNA1G ENST00000359106 human ensembl 74_37 +1 known missense c.4424 p.A1475G 1.000 pfam_Ion_trans_dom,prints_VDCCAlpha1 pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1G HGNC ENSG00000006283 20 0 0 12 13 52 DVL2 0 genome.wustl.edu 37 17 7130478 7130478 + Missense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 17 7130478 7130478 C T SNP DVL2 ENST00000005340 human ensembl 74_37 -1 known missense c.1474 p.V492I 0.996 pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom,prints_Dishevelled_fam pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_2,prints_Dishevelled_fam - no_errors DVL2 HGNC ENSG00000004975 109 0 0 65 20 23.5294 DNAI2 0 genome.wustl.edu 37 17 72305439 72305439 + Missense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 17 72305439 72305439 C T SNP DNAI2 ENST00000311014 human ensembl 74_37 +1 known missense c.1259 p.P420L 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DNAI2 HGNC ENSG00000171595 23 0 0 11 6 35.2941 RECQL5 0 genome.wustl.edu 37 17 73626708 73626708 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 17 73626708 73626708 G A SNP RECQL5 ENST00000317905 human ensembl 74_37 -1 known missense c.1709 p.T570I 0.004 NULL pfam_RecQ_helicase-like_5,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL5 HGNC ENSG00000108469 61 0 0 46 10 17.8571 FOXJ1 0 genome.wustl.edu 37 17 74134139 74134139 + Silent SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 17 74134139 74134139 G A SNP FOXJ1 ENST00000322957 human ensembl 74_37 -1 known silent c.561 p.D187 0.712 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head - no_errors FOXJ1 HGNC ENSG00000129654 33 0 0 20 6 23.0769 DNAH17 0 genome.wustl.edu 37 17 76499074 76499074 + Missense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 17 76499074 76499074 C T SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known missense c.4964 p.R1655Q 0.790 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 16 0 0 15 4 21.0526 HGS 0 genome.wustl.edu 37 17 79660574 79660574 + Missense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 17 79660574 79660574 C T SNP HGS ENST00000329138 human ensembl 74_37 +1 known missense c.704 p.P235L 1.000 pirsf_Ubi-bd_Hrs_VPS27 pfam_VHS,pfam_HRS_helical,pfam_Znf_FYVE,superfamily_ENTH_VHS,superfamily_Znf_FYVE_PHD,smart_VHS_subgr,smart_Znf_FYVE,pirsf_Ubi-bd_Hrs_VPS27,pfscan_Ubiquitin-int_motif,pfscan_VHS,pfscan_Znf_FYVE-rel - no_errors HGS HGNC ENSG00000185359 46 0 0 43 3 6.52174 POTEC 0 genome.wustl.edu 37 18 14542645 14542645 + Missense_Mutation SNP G G T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 18 14542645 14542645 G T SNP POTEC ENST00000358970 human ensembl 74_37 -1 known missense c.501 p.N167K 0.001 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEC HGNC ENSG00000183206 76 0 0 73 11 13.0952 ROCK1 0 genome.wustl.edu 37 18 18586552 18586552 + Nonsense_Mutation SNP C C A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 18 18586552 18586552 C A SNP ROCK1 ENST00000399799 human ensembl 74_37 -1 known nonsense c.1645 p.E549* 1.000 pirsf_Rho-assoc_coiled-coil_kin pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rho-bd_dom,pfam_HR1_rho-bd,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors ROCK1 HGNC ENSG00000067900 24 0 0 14 5 26.3158 EPB41L3 0 genome.wustl.edu 37 18 5397321 5397321 + Silent SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 18 5397321 5397321 C T SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known silent c.2577 p.E859 1.000 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L3 HGNC ENSG00000082397 51 0 0 27 5 15.625 CDH20 0 genome.wustl.edu 37 18 59195252 59195252 + Missense_Mutation SNP A A C TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 18 59195252 59195252 A C SNP CDH20 ENST00000262717 human ensembl 74_37 +1 known missense c.1070 p.N357T 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH20 HGNC ENSG00000101542 22 0 0 21 8 27.5862 SERPINB5 0 genome.wustl.edu 37 18 61170871 61170871 + Missense_Mutation SNP G G C TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 18 61170871 61170871 G C SNP SERPINB5 ENST00000382771 human ensembl 74_37 +1 known missense c.1044 p.L348F 0.995 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Serpin_B9/Maspin - no_errors SERPINB5 HGNC ENSG00000206075 40 0 0 39 26 40 ADNP2 0 genome.wustl.edu 37 18 77893967 77893967 + Missense_Mutation SNP C C G TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 18 77893967 77893967 C G SNP ADNP2 ENST00000262198 human ensembl 74_37 +1 known missense c.671 p.A224G 0.989 smart_Znf_C2H2-like superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ADNP2 HGNC ENSG00000101544 32 0 0 23 5 17.8571 MAST1 0 genome.wustl.edu 37 19 12975973 12975973 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 19 12975973 12975973 G A SNP MAST1 ENST00000251472 human ensembl 74_37 +1 known missense c.1619 p.R540Q 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST1 HGNC ENSG00000105613 43 0 0 29 8 21.6216 BRD4 0 genome.wustl.edu 37 19 15354170 15354170 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 19 15354170 15354170 G A SNP BRD4 ENST00000263377 human ensembl 74_37 -1 known missense c.2710 p.P904S 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD4 HGNC ENSG00000141867 8 0 0 4 3 42.8571 PIK3R2 0 genome.wustl.edu 37 19 18273827 18273827 + Missense_Mutation SNP A A G TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 19 18273827 18273827 A G SNP PIK3R2 ENST00000222254 human ensembl 74_37 +1 known missense c.1160 p.Y387C 0.968 pfam_SH2,smart_SH2,pfscan_SH2,prints_PI3kinase_P85 pfam_SH2,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R2 HGNC ENSG00000105647 34 0 0 17 4 19.0476 KIAA1683 0 genome.wustl.edu 37 19 18378193 18378193 + Nonsense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 19 18378193 18378193 G A SNP KIAA1683 ENST00000392413 human ensembl 74_37 -1 known nonsense c.157 p.Q53* 0.092 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors KIAA1683 HGNC ENSG00000130518 81 0 0 58 9 13.4328 FFAR1 0 genome.wustl.edu 37 19 35842694 35842694 + Silent SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 19 35842694 35842694 C T SNP FFAR1 ENST00000246553 human ensembl 74_37 +1 known silent c.240 p.P80 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR40_recept_FA pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR40_recept_FA,prints_GPR40-rel_orph,prints_GPCR_Rhodpsn - no_errors FFAR1 HGNC ENSG00000126266 12 0 0 9 4 30.7692 LRFN3 0 genome.wustl.edu 37 19 36431007 36431007 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 19 36431007 36431007 G A SNP LRFN3 ENST00000246529 human ensembl 74_37 +1 known missense c.680 p.R227H 0.998 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN3 HGNC ENSG00000126243 105 0 0 110 27 19.708 ZNF345 0 genome.wustl.edu 37 19 37368219 37368219 + Silent SNP C C A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 19 37368219 37368219 C A SNP ZNF345 ENST00000420450 human ensembl 74_37 +1 known silent c.487 p.R163 0.984 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF345 HGNC ENSG00000251247 39 0 0 23 22 48.8889 MEGF8 0 genome.wustl.edu 37 19 42873066 42873066 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 19 42873066 42873066 G A SNP MEGF8 ENST00000251268 human ensembl 74_37 +1 known missense c.6553 p.G2185R 0.998 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 47 0 0 32 37 53.6232 TEX101 0 genome.wustl.edu 37 19 43920055 43920055 + Missense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 19 43920055 43920055 C T SNP TEX101 ENST00000253435 human ensembl 74_37 +1 known missense c.38 p.T13I 0.000 NULL pfam_LY6_UPAR - no_errors TEX101 HGNC ENSG00000131126 181 0 0 188 30 13.7615 SIGLEC8 0 genome.wustl.edu 37 19 51958738 51958738 + Nonsense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 19 51958738 51958738 G A SNP SIGLEC8 ENST00000321424 human ensembl 74_37 -1 known nonsense c.985 p.R329* 0.030 pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC8 HGNC ENSG00000105366 38 0 0 18 5 21.7391 FPR3 0 genome.wustl.edu 37 19 52327945 52327945 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 19 52327945 52327945 G A SNP FPR3 ENST00000339223 human ensembl 74_37 +1 known missense c.944 p.R315H 0.858 prints_Formyl_pep_rcpt,prints_Anphylx_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt - no_errors FPR3 HGNC ENSG00000187474 51 0 0 59 20 25.3165 ZNF845 0 genome.wustl.edu 37 19 53855193 53855193 + Missense_Mutation SNP A A G TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 19 53855193 53855193 A G SNP ZNF845 ENST00000458035 human ensembl 74_37 +1 known missense c.1265 p.Q422R 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 ZNF845 HGNC ENSG00000213799 51 0 0 70 6 7.89474 ZNF845 0 genome.wustl.edu 37 19 53855509 53855509 + Missense_Mutation SNP A A T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 19 53855509 53855509 A T SNP ZNF845 ENST00000458035 human ensembl 74_37 +1 known missense c.1581 p.E527D 0.002 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 ZNF845 HGNC ENSG00000213799 39 0 0 35 7 16.6667 ZNF845 0 genome.wustl.edu 37 19 53855524 53855524 + Silent SNP T T C TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 19 53855524 53855524 T C SNP ZNF845 ENST00000458035 human ensembl 74_37 +1 known silent c.1596 p.F532 0.008 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 ZNF845 HGNC ENSG00000213799 43 0 0 37 10 21.2766 NCKAP5 0 genome.wustl.edu 37 2 133542904 133542904 + Missense_Mutation SNP G G T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 2 133542904 133542904 G T SNP NCKAP5 ENST00000317721 human ensembl 74_37 -1 known missense c.1480 p.Q494K 0.981 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 66 0 0 65 8 10.9589 DHRS9 0 genome.wustl.edu 37 2 169938324 169938324 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 2 169938324 169938324 G A SNP DHRS9 ENST00000432060 human ensembl 74_37 +1 known missense c.413 p.R138H 0.005 pfam_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors DHRS9 HGNC ENSG00000073737 31 0 0 29 4 12.1212 CIR1 0 genome.wustl.edu 37 2 175252479 175252479 + Missense_Mutation SNP T T C TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 2 175252479 175252479 T C SNP CIR1 ENST00000342016 human ensembl 74_37 -1 known missense c.101 p.Y34C 1.000 pfam_CIR_N_dom pfam_CIR_N_dom,superfamily_Znf_CCHC - no_errors CIR1 HGNC ENSG00000138433 8 0 0 22 4 15.3846 ASNSD1 0 genome.wustl.edu 37 2 190535319 190535319 + Missense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 2 190535319 190535319 C T SNP ASNSD1 ENST00000260952 human ensembl 74_37 +1 known missense c.1799 p.P600L 1.000 pfam_Asn_synthase pfam_Asn_synthase - no_errors ASNSD1 HGNC ENSG00000138381 31 0 0 33 13 28.2609 STAT1 0 genome.wustl.edu 37 2 191864393 191864393 + Missense_Mutation SNP T T C TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 2 191864393 191864393 T C SNP STAT1 ENST00000361099 human ensembl 74_37 -1 known missense c.500 p.Q167R 1.000 pfam_STAT_TF_alpha,superfamily_STAT_TF_coiled-coil pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT1_TAZ2-bd_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT1 HGNC ENSG00000115415 13 0 0 11 12 52.1739 INO80D 0 genome.wustl.edu 37 2 206869610 206869610 + Missense_Mutation SNP T T C TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 2 206869610 206869610 T C SNP INO80D ENST00000403263 human ensembl 74_37 -1 known missense c.2566 p.M856V 0.877 NULL NULL - no_errors INO80D HGNC ENSG00000114933 49 0 0 61 14 18.6667 EIF2B4 0 genome.wustl.edu 37 2 27592028 27592028 + Missense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 2 27592028 27592028 C T SNP EIF2B4 ENST00000347454 human ensembl 74_37 -1 known missense c.263 p.R88Q 0.827 NULL pfam_IF-2B-related - no_errors EIF2B4 HGNC ENSG00000115211 63 0 0 36 31 46.2687 FAM179A 0 genome.wustl.edu 37 2 29274846 29274846 + Missense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 2 29274846 29274846 C T SNP FAM179A ENST00000379558 human ensembl 74_37 +1 known missense c.2947 p.L983F 0.795 superfamily_ARM-type_fold pfam_CLASP_N_dom,superfamily_ARM-type_fold - no_errors FAM179A HGNC ENSG00000189350 8 0 0 12 3 20 PRKCE 0 genome.wustl.edu 37 2 46203658 46203658 + Missense_Mutation SNP A A T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 2 46203658 46203658 A T SNP PRKCE ENST00000306156 human ensembl 74_37 +1 known missense c.503 p.N168I 1.000 pirsf_Prot_kin_PKC_delta,prints_DAG/PE-bd pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKCE HGNC ENSG00000171132 54 0 0 41 12 22.6415 MITD1 0 genome.wustl.edu 37 2 99790441 99790441 + Missense_Mutation SNP T T G TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 2 99790441 99790441 T G SNP MITD1 ENST00000289359 human ensembl 74_37 -1 known missense c.190 p.K64Q 1.000 pfam_MIT,smart_MIT pfam_MIT,smart_MIT - no_errors MITD1 HGNC ENSG00000158411 12 0 0 7 7 50 ZNF343 0 genome.wustl.edu 37 20 2463941 2463941 + Nonsense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 20 2463941 2463941 G A SNP ZNF343 ENST00000278772 human ensembl 74_37 -1 known nonsense c.1666 p.R556* 0.005 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 ZNF343 HGNC ENSG00000088876 37 0 0 59 9 13.2353 FRG1B 0 genome.wustl.edu 37 20 29625947 29625947 + Missense_Mutation SNP T T C TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 20 29625947 29625947 T C SNP FRG1B ENST00000278882 human ensembl 74_37 +1 known missense c.191 p.I64T 1.000 pfam_FRG1,superfamily_Actin_cross-linking pfam_FRG1,superfamily_Actin_cross-linking - no_errors FRG1B HGNC ENSG00000149531 57 0 0 47 4 7.84314 NFS1 0 genome.wustl.edu 37 20 34278407 34278407 + Silent SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 20 34278407 34278407 G A SNP NFS1 ENST00000374092 human ensembl 74_37 -1 known silent c.489 p.C163 0.996 pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase,pirsf_Cysteine_dSase_NifS,tigrfam_Cys_deSase pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,pfam_DegT/StrS_aminotransferase,superfamily_PyrdxlP-dep_Trfase,pirsf_Cysteine_dSase_NifS,tigrfam_Cys_deSase - no_errors NFS1 HGNC ENSG00000244005 131 0 0 155 20 11.4286 CTNNBL1 0 genome.wustl.edu 37 20 36374931 36374931 + Missense_Mutation SNP A A G TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 20 36374931 36374931 A G SNP CTNNBL1 ENST00000405275 human ensembl 74_37 +1 known missense c.307 p.M103V 1.000 pfam_CTNNBL1_N,superfamily_ARM-type_fold pfam_CTNNBL1_N,superfamily_ARM-type_fold - no_errors CTNNBL1 HGNC ENSG00000132792 45 0 0 57 10 14.9254 SLC2A10 0 genome.wustl.edu 37 20 45354009 45354009 + Missense_Mutation SNP A A G TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 20 45354009 45354009 A G SNP SLC2A10 ENST00000359271 human ensembl 74_37 +1 known missense c.334 p.I112V 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt - no_errors SLC2A10 HGNC ENSG00000197496 43 0 0 54 12 18.1818 KCNB1 0 genome.wustl.edu 37 20 47989981 47989981 + Missense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 20 47989981 47989981 C T SNP KCNB1 ENST00000371741 human ensembl 74_37 -1 known missense c.2116 p.A706T 0.727 pfam_K_chnl_volt-dep_Kv2 pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.1,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB1 HGNC ENSG00000158445 33 0 0 41 4 8.88889 GNAS 0 genome.wustl.edu 37 20 57415346 57415346 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 20 57415346 57415346 G A SNP GNAS ENST00000313949 human ensembl 74_37 +1 known missense c.185 p.R62Q 1.000 pfam_NESP55 pfam_NESP55 - no_errors GNAS HGNC ENSG00000087460 67 0 0 79 23 22.549 NELFCD 0 genome.wustl.edu 37 20 57568760 57568760 + Nonsense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 20 57568760 57568760 C T SNP NELFCD ENST00000602795 human ensembl 74_37 +1 known nonsense c.1576 p.R526* 1.000 pfam_TH1 pfam_TH1 - no_errors NELFCD HGNC ENSG00000101158 40 0 0 61 10 14.0845 ZGPAT 0 genome.wustl.edu 37 20 62365998 62365998 + Silent SNP G G C TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 20 62365998 62365998 G C SNP ZGPAT ENST00000328969 human ensembl 74_37 +1 known silent c.873 p.V291 0.000 NULL pfam_G_patch_dom,smart_Znf_CCCH,smart_G_patch_dom,pfscan_G_patch_dom - no_errors ZGPAT HGNC ENSG00000197114 114 0 0 135 17 11.1842 MYT1 0 genome.wustl.edu 37 20 62836422 62836422 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 20 62836422 62836422 G A SNP MYT1 ENST00000536311 human ensembl 74_37 +1 known missense c.121 p.V41I 0.255 pfam_Znf_C2HC pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1 HGNC ENSG00000196132 49 0 0 43 16 27.1186 PLCB4 0 genome.wustl.edu 37 20 9402067 9402067 + Missense_Mutation SNP C C G TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 20 9402067 9402067 C G SNP PLCB4 ENST00000334005 human ensembl 74_37 +1 known missense c.2242 p.L748V 1.000 pirsf_PLC-beta,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB4 HGNC ENSG00000101333 30 0 0 36 8 18.1818 UMODL1 0 genome.wustl.edu 37 21 43496205 43496205 + Silent SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 21 43496205 43496205 G A SNP UMODL1 ENST00000408989 human ensembl 74_37 +1 known silent c.168 p.T56 0.000 pfam_EMI_domain,pfscan_EMI_domain pfam_ZP_dom,pfam_SEA_dom,pfam_EGF-like_Ca-bd_dom,pfam_EMI_domain,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_EGF-like_Ca-bd_dom,smart_Fibronectin_type3,smart_ZP_dom,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_ZP_dom,prints_ZP_dom - no_errors UMODL1 HGNC ENSG00000177398 64 0 0 53 14 20.8955 GAB4 0 genome.wustl.edu 37 22 17472957 17472957 + Missense_Mutation SNP T T C TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 22 17472957 17472957 T C SNP GAB4 ENST00000400588 human ensembl 74_37 -1 known missense c.284 p.N95S 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB4 HGNC ENSG00000215568 140 0 0 99 18 15.3846 ZNF74 0 genome.wustl.edu 37 22 20754927 20754927 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 22 20754927 20754927 G A SNP ZNF74 ENST00000357502 human ensembl 74_37 +1 putative missense c.142 p.G48S 0.023 NULL NULL - no_errors ZNF74 HGNC ENSG00000185252 60 0 0 32 9 21.9512 PIWIL3 0 genome.wustl.edu 37 22 25124344 25124344 + Missense_Mutation SNP T T C TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 22 25124344 25124344 T C SNP PIWIL3 ENST00000332271 human ensembl 74_37 -1 known missense c.1732 p.K578E 0.966 superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ_dom,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors PIWIL3 HGNC ENSG00000184571 34 0 0 24 6 20 PLA2G3 0 genome.wustl.edu 37 22 31533765 31533765 + Missense_Mutation SNP T T C TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 22 31533765 31533765 T C SNP PLA2G3 ENST00000215885 human ensembl 74_37 -1 known missense c.997 p.M333V 0.000 NULL pfam_PLipase_A2,superfamily_PLipase_A2_dom - no_errors PLA2G3 HGNC ENSG00000100078 134 0 0 104 10 8.77193 SFI1 0 genome.wustl.edu 37 22 31971284 31971284 + Missense_Mutation SNP G G C TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 22 31971284 31971284 G C SNP SFI1 ENST00000400288 human ensembl 74_37 +1 known missense c.990 p.W330C 0.976 NULL superfamily_Cyclin-like - no_errors SFI1 HGNC ENSG00000198089 37 0 0 36 2 5.26316 STXBP5L 0 genome.wustl.edu 37 3 120871364 120871364 + Missense_Mutation SNP A A G TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 3 120871364 120871364 A G SNP STXBP5L ENST00000273666 human ensembl 74_37 +1 known missense c.710 p.D237G 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5L HGNC ENSG00000145087 25 0 0 21 3 12.5 PTPLB 0 genome.wustl.edu 37 3 123301156 123301156 + Missense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 3 123301156 123301156 C T SNP PTPLB ENST00000383657 human ensembl 74_37 -1 known missense c.176 p.G59D 1.000 NULL pfam_Tyr_Pase-like_PTPLA - no_errors PTPLB HGNC ENSG00000206527 13 0 0 24 2 7.69231 CNTN6 0 genome.wustl.edu 37 3 1320162 1320162 + Missense_Mutation SNP C C A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 3 1320162 1320162 C A SNP CNTN6 ENST00000350110 human ensembl 74_37 +1 known missense c.424 p.L142I 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN6 HGNC ENSG00000134115 16 0 0 13 4 23.5294 MED12L 0 genome.wustl.edu 37 3 151073819 151073819 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 3 151073819 151073819 G A SNP MED12L ENST00000474524 human ensembl 74_37 +1 known missense c.2548 p.A850T 1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 29 0 0 24 9 27.2727 PIK3CA 0 genome.wustl.edu 37 3 178922370 178922370 + Missense_Mutation SNP A A G TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 3 178922370 178922370 A G SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.1139 p.N380S 1.000 pfam_PI3K_C2_dom,superfamily_C2_dom,smart_PI3K_C2_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 25 0 0 27 5 15.625 FGF12 0 genome.wustl.edu 37 3 192125831 192125831 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 3 192125831 192125831 G A SNP FGF12 ENST00000454309 human ensembl 74_37 -1 known missense c.182 p.P61L 0.998 NULL pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam,prints_Fibroblast_GF_fam - no_errors FGF12 HGNC ENSG00000114279 154 0 0 139 23 14.1975 MUC20 0 genome.wustl.edu 37 3 195451990 195451990 + Silent SNP G G T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 3 195451990 195451990 G T SNP MUC20 ENST00000447234 human ensembl 74_37 +1 known silent c.516 p.L172 0.001 NULL NULL - no_errors MUC20 HGNC ENSG00000176945 78 0 0 64 10 13.5135 WDR48 0 genome.wustl.edu 37 3 39107333 39107333 + Missense_Mutation SNP A A G TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 3 39107333 39107333 A G SNP WDR48 ENST00000302313 human ensembl 74_37 +1 known missense c.221 p.H74R 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_DUF3337,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR48 HGNC ENSG00000114742 19 0 0 18 3 14.2857 RHOA 0 genome.wustl.edu 37 3 49405954 49405954 + Missense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 3 49405954 49405954 C T SNP RHOA ENST00000418115 human ensembl 74_37 -1 known missense c.184 p.G62R 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOA HGNC ENSG00000067560 41 0 0 37 7 15.9091 FAT4 0 genome.wustl.edu 37 4 126372362 126372362 + Missense_Mutation SNP T T A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 4 126372362 126372362 T A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.10191 p.D3397E 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 76 0 0 43 7 14 PCDH10 0 genome.wustl.edu 37 4 134073070 134073070 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 4 134073070 134073070 G A SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known missense c.1775 p.R592H 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 35 0 0 23 7 23.3333 DCHS2 0 genome.wustl.edu 37 4 155219548 155219548 + Missense_Mutation SNP G G T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 4 155219548 155219548 G T SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known missense c.4553 p.T1518N 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 60 0 0 45 9 16.6667 PSD2 0 genome.wustl.edu 37 5 139189211 139189211 + Missense_Mutation SNP G G T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 5 139189211 139189211 G T SNP PSD2 ENST00000274710 human ensembl 74_37 +1 known missense c.186 p.K62N 0.003 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD2 HGNC ENSG00000146005 43 0 0 32 8 20 ENSG00000249034 0 genome.wustl.edu 37 5 140242770 140242770 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 5 140242770 140242770 G A SNP ENSG00000249034 ENST00000502505 human ensembl 74_37 -1 known missense c.206 p.T69M 0.040 NULL NULL - no_errors AC005609.1 Clone_based_ensembl_gene ENSG00000249034 20 0 0 15 3 16.6667 PCDHGA5 0 genome.wustl.edu 37 5 140745174 140745174 + Missense_Mutation SNP A A G TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 5 140745174 140745174 A G SNP PCDHGA5 ENST00000518069 human ensembl 74_37 +1 known missense c.1277 p.D426G 0.998 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA5 HGNC ENSG00000253485 82 0 0 80 12 13.0435 PCDHGC4 0 genome.wustl.edu 37 5 140864960 140864960 + Missense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 5 140864960 140864960 C T SNP PCDHGC4 ENST00000306593 human ensembl 74_37 +1 known missense c.220 p.H74Y 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC4 HGNC ENSG00000242419 45 0 0 34 7 17.0732 POU4F3 0 genome.wustl.edu 37 5 145719209 145719209 + Silent SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 5 145719209 145719209 G A SNP POU4F3 ENST00000230732 human ensembl 74_37 +1 known silent c.219 p.P73 0.994 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU4F3 HGNC ENSG00000091010 79 0 0 50 12 19.3548 POU4F3 0 genome.wustl.edu 37 5 145719700 145719700 + Missense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 5 145719700 145719700 C T SNP POU4F3 ENST00000230732 human ensembl 74_37 +1 known missense c.710 p.S237L 1.000 pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pfscan_POU_specific,prints_POU pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU4F3 HGNC ENSG00000091010 53 0 0 47 7 12.963 JAKMIP2 0 genome.wustl.edu 37 5 147012306 147012306 + Missense_Mutation SNP T T A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 5 147012306 147012306 T A SNP JAKMIP2 ENST00000265272 human ensembl 74_37 -1 known missense c.1713 p.Q571H 1.000 NULL NULL - no_errors JAKMIP2 HGNC ENSG00000176049 71 0 0 44 7 13.7255 SOX30 0 genome.wustl.edu 37 5 157078519 157078519 + Missense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 5 157078519 157078519 C T SNP SOX30 ENST00000265007 human ensembl 74_37 -1 known missense c.568 p.E190K 0.070 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX30 HGNC ENSG00000039600 103 0 0 69 15 17.8571 GABRG2 0 genome.wustl.edu 37 5 161569188 161569188 + Missense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 5 161569188 161569188 C T SNP GABRG2 ENST00000356592 human ensembl 74_37 +1 known missense c.788 p.S263F 0.782 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg2_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG2 HGNC ENSG00000113327 49 0 0 41 12 22.6415 PRDM9 0 genome.wustl.edu 37 5 23526774 23526774 + Missense_Mutation SNP A A G TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 5 23526774 23526774 A G SNP PRDM9 ENST00000296682 human ensembl 74_37 +1 known missense c.1577 p.Y526C 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM9 HGNC ENSG00000164256 67 0 0 54 14 20.5882 CDH10 0 genome.wustl.edu 37 5 24593377 24593377 + Missense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 5 24593377 24593377 C T SNP CDH10 ENST00000264463 human ensembl 74_37 -1 known missense c.223 p.V75I 1.000 pfam_Cadherin,superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH10 HGNC ENSG00000040731 41 0 0 48 8 14.2857 FST 0 genome.wustl.edu 37 5 52780919 52780919 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 5 52780919 52780919 G A SNP FST ENST00000256759 human ensembl 74_37 +1 known missense c.814 p.E272K 1.000 pfam_Kazal_dom,smart_Kazal_dom pfam_Kazal_dom,pfam_Follistatin/Osteonectin_EGF,superfamily_TB_dom,smart_Fol_N,smart_Kazal_dom - no_errors FST HGNC ENSG00000134363 55 0 0 46 26 36.1111 RASGRF2 0 genome.wustl.edu 37 5 80369248 80369248 + Silent SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 5 80369248 80369248 C T SNP RASGRF2 ENST00000265080 human ensembl 74_37 +1 known silent c.864 p.D288 0.135 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF2 HGNC ENSG00000113319 34 0 0 19 6 24 MEF2C 0 genome.wustl.edu 37 5 88018547 88018547 + Silent SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 5 88018547 88018547 G A SNP MEF2C ENST00000437473 human ensembl 74_37 -1 known silent c.1296 p.D432 0.999 NULL pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,prints_TF_MADSbox,pfscan_TF_MADSbox - no_errors MEF2C HGNC ENSG00000081189 80 0 0 48 9 15.7895 NR2F1 0 genome.wustl.edu 37 5 92923850 92923850 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 5 92923850 92923850 G A SNP NR2F1 ENST00000327111 human ensembl 74_37 +1 known missense c.691 p.V231I 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_COUP_TF,prints_Str_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_COUP_TF,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors NR2F1 HGNC ENSG00000175745 60 0 0 45 7 13.4615 REV3L 0 genome.wustl.edu 37 6 111701366 111701366 + Missense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 6 111701366 111701366 C T SNP REV3L ENST00000358835 human ensembl 74_37 -1 known missense c.1273 p.G425R 1.000 superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 29 0 0 28 9 24.3243 HEBP2 0 genome.wustl.edu 37 6 138734166 138734166 + Missense_Mutation SNP A A G TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 6 138734166 138734166 A G SNP HEBP2 ENST00000607197 human ensembl 74_37 +1 known missense c.569 p.N190S 1.000 pfam_SOUL_haem-bd,superfamily_Reg_factor_effector_dom pfam_SOUL_haem-bd,superfamily_Reg_factor_effector_dom - no_errors HEBP2 HGNC ENSG00000051620 66 0 0 45 8 15.0943 JARID2 0 genome.wustl.edu 37 6 15501636 15501636 + Missense_Mutation SNP A A G TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 6 15501636 15501636 A G SNP JARID2 ENST00000341776 human ensembl 74_37 +1 known missense c.2444 p.Y815C 0.997 NULL pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC ENSG00000008083 19 0 0 22 3 12 MLLT4 0 genome.wustl.edu 37 6 168265408 168265408 + Missense_Mutation SNP G G C TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 6 168265408 168265408 G C SNP MLLT4 ENST00000366806 human ensembl 74_37 +1 known missense c.283 p.E95Q 1.000 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors MLLT4 HGNC ENSG00000130396 69 0 0 89 12 11.8812 VARS2 0 genome.wustl.edu 37 6 30882769 30882769 + Silent SNP A A G TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 6 30882769 30882769 A G SNP VARS2 ENST00000541562 human ensembl 74_37 +1 known silent c.246 p.R82 0.949 NULL pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase - no_errors VARS2 HGNC ENSG00000137411 61 0 0 35 8 18.6047 LTA 0 genome.wustl.edu 37 6 31541465 31541465 + Missense_Mutation SNP C C A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 6 31541465 31541465 C A SNP LTA ENST00000418386 human ensembl 74_37 +1 known missense c.613 p.L205M 0.968 pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom,prints_TNF_beta,prints_TNF - no_errors LTA HGNC ENSG00000226979 89 0 0 72 15 17.2414 CLIC5 0 genome.wustl.edu 37 6 45917087 45917087 + Missense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 6 45917087 45917087 C T SNP CLIC5 ENST00000185206 human ensembl 74_37 -1 known missense c.682 p.G228S 1.000 superfamily_Thioredoxin-like_fold,tigrfam_Int_Cl_channel superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel - no_errors CLIC5 HGNC ENSG00000112782 67 0 0 82 12 12.766 KLHL31 0 genome.wustl.edu 37 6 53516915 53516915 + Silent SNP C C G TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 6 53516915 53516915 C G SNP KLHL31 ENST00000370905 human ensembl 74_37 -1 known silent c.1386 p.A462 0.005 pfam_Kelch_1,pfam_DUF1668_ORYSA,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_DUF1668_ORYSA,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL31 HGNC ENSG00000124743 18 0 0 16 7 30.4348 BAI3 0 genome.wustl.edu 37 6 70037747 70037747 + Missense_Mutation SNP T T G TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 6 70037747 70037747 T G SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known missense c.3001 p.F1001V 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 30 0 0 18 6 25 KHDC3L 0 genome.wustl.edu 37 6 74073551 74073551 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 6 74073551 74073551 G A SNP KHDC3L ENST00000370367 human ensembl 74_37 +1 known missense c.622 p.E208K 0.000 NULL NULL - no_errors KHDC3L HGNC ENSG00000203908 57 0 0 40 4 9.09091 SNAP91 0 genome.wustl.edu 37 6 84269910 84269910 + Silent SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 6 84269910 84269910 G A SNP SNAP91 ENST00000369694 human ensembl 74_37 -1 known silent c.2544 p.G848 0.998 NULL pfam_ANTH_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors SNAP91 HGNC ENSG00000065609 36 0 0 23 6 20.6897 TBX18 0 genome.wustl.edu 37 6 85472321 85472321 + Silent SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 6 85472321 85472321 G A SNP TBX18 ENST00000369663 human ensembl 74_37 -1 known silent c.438 p.A146 0.025 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box - no_errors TBX18 HGNC ENSG00000112837 91 0 0 92 8 8 POU3F2 0 genome.wustl.edu 37 6 99283682 99283682 + Missense_Mutation SNP T T A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 6 99283682 99283682 T A SNP POU3F2 ENST00000328345 human ensembl 74_37 +1 known missense c.933 p.F311L 1.000 pirsf_Transcription_factor_POU,pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pfscan_POU_specific,prints_POU pirsf_Transcription_factor_POU,pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU3F2 HGNC ENSG00000184486 180 0 0 158 27 14.5946 SSPO 0 genome.wustl.edu 37 7 149493689 149493689 + RNA SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 7 149493689 149493689 C T SNP SSPO ENST00000378016 human ensembl 74_37 +1 known rna NULL NULL 0.112 - - - no_errors SSPO HGNC ENSG00000197558 22 0 0 15 3 16.6667 HDAC9 0 genome.wustl.edu 37 7 18625092 18625092 + Nonsense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 7 18625092 18625092 C T SNP HDAC9 ENST00000441542 human ensembl 74_37 +1 known nonsense c.211 p.Q71* 1.000 pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC9 HGNC ENSG00000048052 25 0 0 20 9 31.0345 PKD1L1 0 genome.wustl.edu 37 7 47947797 47947797 + Missense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 7 47947797 47947797 C T SNP PKD1L1 ENST00000289672 human ensembl 74_37 -1 known missense c.1279 p.E427K 0.000 NULL pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 37 0 0 28 5 15.1515 GTF2IRD2P1 0 genome.wustl.edu 37 7 72685542 72685542 + RNA SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 7 72685542 72685542 G A SNP GTF2IRD2P1 ENST00000425256 human ensembl 74_37 -1 known rna NULL NULL 0.863 - - - no_errors GTF2IRD2P1 HGNC ENSG00000214544 68 0 0 76 4 5 CLDN12 0 genome.wustl.edu 37 7 90042693 90042693 + Missense_Mutation SNP A A G TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 7 90042693 90042693 A G SNP CLDN12 ENST00000287916 human ensembl 74_37 +1 known missense c.703 p.I235V 1.000 NULL prints_Claudin12 - no_errors CLDN12 HGNC ENSG00000157224 59 0 0 52 24 31.5789 SLC25A13 0 genome.wustl.edu 37 7 95822490 95822490 + Missense_Mutation SNP T T C TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 7 95822490 95822490 T C SNP SLC25A13 ENST00000416240 human ensembl 74_37 -1 known missense c.474 p.I158M 1.000 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A13 HGNC ENSG00000004864 28 0 0 29 9 23.6842 VPS13B 0 genome.wustl.edu 37 8 100790949 100790949 + Missense_Mutation SNP A A G TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 8 100790949 100790949 A G SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known missense c.7544 p.N2515S 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 45 0 0 44 7 13.7255 PKHD1L1 0 genome.wustl.edu 37 8 110464495 110464495 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 8 110464495 110464495 G A SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.6493 p.G2165S 0.999 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 31 0 0 27 3 10 VPS37A 0 genome.wustl.edu 37 8 17137897 17137897 + Missense_Mutation SNP C C A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 8 17137897 17137897 C A SNP VPS37A ENST00000324849 human ensembl 74_37 +1 known missense c.914 p.T305K 1.000 pfam_Mod_r pfam_Mod_r,superfamily_UBQ-conjugating_enzyme/RWD - no_errors VPS37A HGNC ENSG00000155975 13 0 0 10 3 23.0769 FGF17 0 genome.wustl.edu 37 8 21903764 21903764 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 8 21903764 21903764 G A SNP FGF17 ENST00000359441 human ensembl 74_37 +1 known missense c.212 p.R71H 0.999 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF17 HGNC ENSG00000158815 53 0 0 42 10 19.2308 KAT6A 0 genome.wustl.edu 37 8 41790128 41790128 + Missense_Mutation SNP G G C TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 8 41790128 41790128 G C SNP KAT6A ENST00000265713 human ensembl 74_37 -1 known missense c.5610 p.H1870Q 1.000 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6A HGNC ENSG00000083168 15 0 0 22 3 12 LYN 0 genome.wustl.edu 37 8 56866415 56866415 + Missense_Mutation SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 8 56866415 56866415 G A SNP LYN ENST00000519728 human ensembl 74_37 +1 known missense c.662 p.R221K 0.717 pfscan_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors LYN HGNC ENSG00000254087 28 0 0 26 6 18.75 CNGB3 0 genome.wustl.edu 37 8 87680379 87680379 + Missense_Mutation SNP G G C TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 8 87680379 87680379 G C SNP CNGB3 ENST00000320005 human ensembl 74_37 -1 known missense c.511 p.P171A 0.000 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB3 HGNC ENSG00000170289 38 0 0 30 7 18.9189 DCAF4L2 0 genome.wustl.edu 37 8 88885973 88885973 + Missense_Mutation SNP C C T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 8 88885973 88885973 C T SNP DCAF4L2 ENST00000319675 human ensembl 74_37 -1 known missense c.227 p.R76H 0.161 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4L2 HGNC ENSG00000176566 46 0 0 38 6 13.6364 MMP16 0 genome.wustl.edu 37 8 89081740 89081740 + RNA SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 8 89081740 89081740 G A SNP MMP16 ENST00000544227 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MMP16 HGNC ENSG00000156103 27 0 0 22 9 29.0323 OR13C8 0 genome.wustl.edu 37 9 107331805 107331805 + Silent SNP A A G TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 9 107331805 107331805 A G SNP OR13C8 ENST00000335040 human ensembl 74_37 +1 known silent c.357 p.A119 0.794 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C8 HGNC ENSG00000186943 33 0 0 37 4 9.7561 IRS4 0 genome.wustl.edu 37 X 107977572 107977572 + Missense_Mutation SNP T T G TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 X 107977572 107977572 T G SNP IRS4 ENST00000372129 human ensembl 74_37 -1 known missense c.2003 p.K668T 0.547 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 125 0 0 114 6 5 MCF2 0 genome.wustl.edu 37 X 138708381 138708381 + Silent SNP G G A TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 X 138708381 138708381 G A SNP MCF2 ENST00000370578 human ensembl 74_37 -1 known silent c.1093 p.L365 1.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2 HGNC ENSG00000101977 19 0 0 19 8 29.6296 SLITRK2 0 genome.wustl.edu 37 X 144905049 144905049 + Missense_Mutation SNP A A T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 X 144905049 144905049 A T SNP SLITRK2 ENST00000370490 human ensembl 74_37 +1 known missense c.1106 p.D369V 1.000 smart_LRR-contain_N pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK2 HGNC ENSG00000185985 21 0 0 9 12 57.1429 AFF2 0 genome.wustl.edu 37 X 148055009 148055009 + Silent SNP A A G TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 X 148055009 148055009 A G SNP AFF2 ENST00000370460 human ensembl 74_37 +1 known silent c.3276 p.K1092 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 21 0 0 17 6 26.087 DMD 0 genome.wustl.edu 37 X 32398721 32398721 + Missense_Mutation SNP G G T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 X 32398721 32398721 G T SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.4751 p.T1584K 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 33 0 0 23 9 28.125 SGIP1 0 genome.wustl.edu 37 1 67098778 67098781 + Splice_Site DEL GTAA GTAA - TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 GTAA GTAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 1 67098778 67098781 GTAA - DEL SGIP1 ENST00000237247 human ensembl 74_37 +1 known splice_site_del c.99+1_99+1 e3+1 1.000:1.000:1.000:1.000 - - - no_errors SGIP1 HGNC ENSG00000118473 74 0 0 63 9 12.5 PCDH9 0 genome.wustl.edu 37 13 67799994 67799994 + Frame_Shift_Del DEL T T - TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 13 67799994 67799994 T - DEL PCDH9 ENST00000377865 human ensembl 74_37 -1 known frame_shift_del c.2579 p.N860fs 1.000 pfam_Protocadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 56 0 0 48 10 17.2414 RSPRY1 0 genome.wustl.edu 37 16 57243061 57243062 + Frame_Shift_Ins INS - - T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 16 57243061 57243062 - T INS RSPRY1 ENST00000394420 human ensembl 74_37 +1 known frame_shift_ins c.478_479 p.T161fs 1.000:1.000 superfamily_ARM-type_fold pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING - no_errors RSPRY1 HGNC ENSG00000159579 61 0 0 60 12 16.6667 DSG2 0 genome.wustl.edu 37 18 29100918 29100919 + Frame_Shift_Ins INS - - T TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 18 29100918 29100919 - T INS DSG2 ENST00000261590 human ensembl 74_37 +1 known frame_shift_ins c.369_370 p.L125fs 0.305:0.180 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin - no_errors DSG2 HGNC ENSG00000046604 19 0 0 11 4 26.6667 CCDC9 0 genome.wustl.edu 37 19 47774760 47774761 + Frame_Shift_Ins INS - - G TCGA-HU-A4H0-01A-11D-A25D-08 TCGA-HU-A4H0-11A-11D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 7116cc90-f465-4e7e-aa27-48a83ed258e9 dcdf6e0b-30ac-405b-a44e-6086296e70e1 19 47774760 47774761 - G INS CCDC9 ENST00000221922 human ensembl 74_37 +1 known frame_shift_ins c.1421_1422 p.E475fs 0.496:0.674 NULL NULL - no_errors CCDC9 HGNC ENSG00000105321 57 0 0 69 13 15.8537