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 ABCA1 0 genome.wustl.edu 37 9 107562106 107562106 + Missense_Mutation SNP A A T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 9 107562106 107562106 A T SNP ABCA1 ENST00000374736 human ensembl 74_37 -1 known missense c.4937 p.V1646E 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA1 HGNC ENSG00000165029 66 0 0.00 54 14 20.29 ACIN1 0 genome.wustl.edu 37 14 23559205 23559205 + Missense_Mutation SNP C C A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 14 23559205 23559205 C A SNP ACIN1 ENST00000262710 human ensembl 74_37 -1 known missense c.596 p.S199I 1.000 NULL pfam_SAP_dom,smart_SAP_dom,pfscan_SAP_dom - no_errors ACIN1 HGNC ENSG00000100813 28 0 0.00 23 4 14.81 ACTR8 0 genome.wustl.edu 37 3 53910032 53910032 + Missense_Mutation SNP C C T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 3 53910032 53910032 C T SNP ACTR8 ENST00000335754 human ensembl 74_37 -1 known missense c.854 p.G285E 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related - no_errors ACTR8 HGNC ENSG00000113812 39 0 0.00 40 15 27.27 ADAMTSL3 0 genome.wustl.edu 37 15 84651856 84651856 + Missense_Mutation SNP C C T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 15 84651856 84651856 C T SNP ADAMTSL3 ENST00000286744 human ensembl 74_37 +1 known missense c.3476 p.S1159F 0.024 NULL pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL3 HGNC ENSG00000156218 22 0 0.00 17 4 19.05 ADRA1A 0 genome.wustl.edu 37 8 26721982 26721982 + Missense_Mutation SNP C C A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 8 26721982 26721982 C A SNP ADRA1A ENST00000380586 human ensembl 74_37 -1 known missense c.505 p.A169S 0.998 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA1A_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRA1A HGNC ENSG00000120907 16 0 0.00 15 3 16.67 AKT1S1 0 genome.wustl.edu 37 19 50374931 50374931 + Missense_Mutation SNP C C T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 19 50374931 50374931 C T SNP AKT1S1 ENST00000344175 human ensembl 74_37 -1 known missense c.500 p.C167Y 0.000 NULL NULL - no_errors AKT1S1 HGNC ENSG00000204673 49 0 0.00 70 9 11.39 AMER2 0 genome.wustl.edu 37 13 25743791 25743791 + Missense_Mutation SNP C C A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 13 25743791 25743791 C A SNP AMER2 ENST00000515384 human ensembl 74_37 -1 known missense c.1967 p.G656V 1.000 NULL pfam_Uncharacterised_FAM123 - no_errors AMER2 HGNC ENSG00000165566 43 0 0.00 34 3 8.11 ANGEL2 0 genome.wustl.edu 37 1 213174199 213174199 + Missense_Mutation SNP C C A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 1 213174199 213174199 C A SNP ANGEL2 ENST00000366962 human ensembl 74_37 -1 known missense c.1190 p.W397L 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors ANGEL2 HGNC ENSG00000174606 68 0 0.00 55 4 6.78 ANK2 0 genome.wustl.edu 37 4 114279017 114279017 + Missense_Mutation SNP C C A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 4 114279017 114279017 C A SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known missense c.9243 p.D3081E 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 23 0 0.00 9 17 65.38 ANKRD30B 0 genome.wustl.edu 37 18 14851601 14851601 + Silent SNP C C T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 18 14851601 14851601 C T SNP ANKRD30B ENST00000358984 human ensembl 74_37 +1 known silent c.3301 p.L1101 0.001 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30B HGNC ENSG00000180777 64 0 0.00 69 9 11.54 AR 0 genome.wustl.edu 37 X 66765188 66765188 + Missense_Mutation SNP A A T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e X 66765188 66765188 A T SNP AR ENST00000374690 human ensembl 74_37 +1 known missense c.200 p.Q67L 0.999 pfam_Andrgn_rcpt pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt - no_errors AR HGNC ENSG00000169083 17 0 0.00 21 6 22.22 AR 0 genome.wustl.edu 37 X 66765191 66765191 + Missense_Mutation SNP A A T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e X 66765191 66765191 A T SNP AR ENST00000374690 human ensembl 74_37 +1 known missense c.203 p.Q68L 1.000 pfam_Andrgn_rcpt pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt - no_errors AR HGNC ENSG00000169083 17 0 0.00 19 7 25.93 ARID1B 0 genome.wustl.edu 37 6 157522154 157522154 + Nonsense_Mutation SNP C C T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 6 157522154 157522154 C T SNP ARID1B ENST00000367148 human ensembl 74_37 +1 known nonsense c.4546 p.Q1516* 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1B HGNC ENSG00000049618 19 0 0.00 25 6 19.35 ARMCX4 0 genome.wustl.edu 37 X 100746775 100746775 + Missense_Mutation SNP G G A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e X 100746775 100746775 G A SNP ARMCX4 ENST00000423738 human ensembl 74_37 +1 putative missense c.3199 p.E1067K 0.000 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo - no_errors ARMCX4 HGNC ENSG00000196440 22 0 0.00 14 7 33.33 ATP10A 0 genome.wustl.edu 37 15 25959047 25959047 + Silent SNP C C T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 15 25959047 25959047 C T SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known silent c.2118 p.A706 0.132 superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10A HGNC ENSG00000206190 50 0 0.00 31 8 20.51 ATP1B4 0 genome.wustl.edu 37 X 119509235 119509235 + Missense_Mutation SNP G G T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e X 119509235 119509235 G T SNP ATP1B4 ENST00000218008 human ensembl 74_37 +1 known missense c.571 p.D191Y 1.000 pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta - no_errors ATP1B4 HGNC ENSG00000101892 24 0 0.00 13 8 38.10 ATRNL1 0 genome.wustl.edu 37 10 117486857 117486857 + Missense_Mutation SNP C C G TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 10 117486857 117486857 C G SNP ATRNL1 ENST00000355044 human ensembl 74_37 +1 known missense c.3895 p.P1299A 1.000 NULL pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRNL1 HGNC ENSG00000107518 47 0 0.00 27 20 42.55 AXDND1 0 genome.wustl.edu 37 1 179364289 179364289 + Missense_Mutation SNP C C T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 1 179364289 179364289 C T SNP AXDND1 ENST00000367618 human ensembl 74_37 +1 known missense c.1061 p.A354V 0.825 NULL pfam_Axonemal_dynein_light_chain - no_errors AXDND1 HGNC ENSG00000162779 64 0 0.00 47 4 7.84 BAGE2 0 genome.wustl.edu 37 21 11039362 11039362 + RNA SNP T T G TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 21 11039362 11039362 T G SNP BAGE2 ENST00000470054 human ensembl 74_37 -1 known rna NULL NULL 0.033 - - - no_errors BAGE2 HGNC ENSG00000187172 190 0 0.00 185 22 10.63 BAGE2 0 genome.wustl.edu 37 21 11098810 11098810 + RNA SNP G G A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 21 11098810 11098810 G A SNP BAGE2 ENST00000470054 human ensembl 74_37 -1 known rna NULL NULL 0.076 - - - no_errors BAGE2 HGNC ENSG00000187172 42 0 0.00 34 5 12.50 BBS5 0 genome.wustl.edu 37 2 170361081 170361081 + Missense_Mutation SNP G G C TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 2 170361081 170361081 G C SNP BBS5 ENST00000295240 human ensembl 74_37 +1 known missense c.1015 p.V339L 1.000 pfam_BBL5,pirsf_BBL5 pfam_BBL5,smart_DM16_repeat,pirsf_BBL5 - no_errors BBS5 HGNC ENSG00000163093 74 0 0.00 45 26 36.62 BNC1 0 genome.wustl.edu 37 15 83926243 83926243 + Missense_Mutation SNP T T A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 15 83926243 83926243 T A SNP BNC1 ENST00000345382 human ensembl 74_37 -1 known missense c.2936 p.N979I 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC1 HGNC ENSG00000169594 72 0 0.00 68 4 5.48 BRINP3 0 genome.wustl.edu 37 1 190068039 190068039 + Silent SNP G G A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 1 190068039 190068039 G A SNP BRINP3 ENST00000367462 human ensembl 74_37 -1 known silent c.1410 p.S470 0.995 NULL pfam_MACPF,smart_MACPF - no_errors BRINP3 HGNC ENSG00000162670 26 0 0.00 12 5 29.41 C10orf112 0 genome.wustl.edu 37 10 19820137 19820137 + Missense_Mutation SNP T T G TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 10 19820137 19820137 T G SNP C10orf112 ENST00000454679 human ensembl 74_37 +1 known missense c.3433 p.F1145V 0.983 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_LDrepeatLR_classA_rpt,prints_MAM_dom - no_errors C10orf112 HGNC ENSG00000204740 84 0 0.00 40 18 31.03 C22orf34 0 genome.wustl.edu 37 22 50016913 50016913 + Missense_Mutation SNP A A C TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 22 50016913 50016913 A C SNP C22orf34 ENST00000444628 human ensembl 74_37 -1 known missense c.981 p.D327E 0.000 NULL NULL - no_errors C22orf34 HGNC ENSG00000188511 74 0 0.00 28 28 50.00 C6orf15 0 genome.wustl.edu 37 6 31079655 31079655 + Missense_Mutation SNP C C T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 6 31079655 31079655 C T SNP C6orf15 ENST00000259870 human ensembl 74_37 -1 known missense c.481 p.G161S 0.001 NULL NULL - no_errors C6orf15 HGNC ENSG00000204542 36 0 0.00 18 4 18.18 CACNA1C 0 genome.wustl.edu 37 12 2224508 2224508 + Silent SNP C C T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 12 2224508 2224508 C T SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known silent c.168 p.I56 0.994 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 18 0 0.00 5 8 61.54 CACNA1E 0 genome.wustl.edu 37 1 181452908 181452908 + Missense_Mutation SNP G G T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 1 181452908 181452908 G T SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known missense c.28 p.A10S 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 62 0 0.00 67 4 5.63 CACNA1H 0 genome.wustl.edu 37 16 1245071 1245071 + Nonsense_Mutation SNP C C A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 16 1245071 1245071 C A SNP CACNA1H ENST00000348261 human ensembl 74_37 +1 known nonsense c.399 p.C133* 0.324 prints_VDCC_T_a1su pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 81 0 0.00 67 4 5.63 CAPN13 0 genome.wustl.edu 37 2 30987153 30987153 + Missense_Mutation SNP C C A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 2 30987153 30987153 C A SNP CAPN13 ENST00000295055 human ensembl 74_37 -1 known missense c.544 p.D182Y 0.001 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN13 HGNC ENSG00000162949 41 0 0.00 22 14 38.89 CARD10 0 genome.wustl.edu 37 22 37906323 37906323 + Nonsense_Mutation SNP C C A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 22 37906323 37906323 C A SNP CARD10 ENST00000251973 human ensembl 74_37 -1 known nonsense c.805 p.E269* 0.999 NULL pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD - no_errors CARD10 HGNC ENSG00000100065 14 0 0.00 11 4 26.67 CCDC144CP 0 genome.wustl.edu 37 17 20245688 20245688 + RNA SNP G G A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 17 20245688 20245688 G A SNP CCDC144CP ENST00000580574 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors CCDC144CP HGNC ENSG00000154898 179 0 0.00 149 32 17.68 CCDC80 0 genome.wustl.edu 37 3 112337841 112337841 + Missense_Mutation SNP G G T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 3 112337841 112337841 G T SNP CCDC80 ENST00000206423 human ensembl 74_37 -1 known missense c.2146 p.L716I 1.000 NULL NULL - no_errors CCDC80 HGNC ENSG00000091986 21 0 0.00 33 13 28.26 CD163L1 0 genome.wustl.edu 37 12 7527976 7527976 + Missense_Mutation SNP G G A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 12 7527976 7527976 G A SNP CD163L1 ENST00000313599 human ensembl 74_37 -1 known missense c.2902 p.H968Y 0.000 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors CD163L1 HGNC ENSG00000177675 52 0 0.00 18 13 41.94 CD1B 0 genome.wustl.edu 37 1 158299215 158299215 + Silent SNP C C A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 1 158299215 158299215 C A SNP CD1B ENST00000368168 human ensembl 74_37 -1 known silent c.831 p.L277 0.022 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1B HGNC ENSG00000158485 49 0 0.00 30 16 34.78 CD1E 0 genome.wustl.edu 37 1 158326360 158326360 + Missense_Mutation SNP A A G TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 1 158326360 158326360 A G SNP CD1E ENST00000368167 human ensembl 74_37 +1 known missense c.977 p.D326G 0.000 NULL pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1E HGNC ENSG00000158488 70 0 0.00 53 13 19.70 CDC14A 0 genome.wustl.edu 37 1 100908535 100908535 + Nonsense_Mutation SNP G G T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 1 100908535 100908535 G T SNP CDC14A ENST00000361544 human ensembl 74_37 +1 known nonsense c.502 p.E168* 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors CDC14A HGNC ENSG00000079335 48 0 0.00 50 4 7.41 CDH17 0 genome.wustl.edu 37 8 95189941 95189941 + Silent SNP G G C TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 8 95189941 95189941 G C SNP CDH17 ENST00000027335 human ensembl 74_37 -1 known silent c.159 p.A53 0.052 superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH17 HGNC ENSG00000079112 63 0 0.00 56 5 8.20 CERK 0 genome.wustl.edu 37 22 47097574 47097574 + Missense_Mutation SNP C C T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 22 47097574 47097574 C T SNP CERK ENST00000216264 human ensembl 74_37 -1 known missense c.749 p.G250D 1.000 pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom pfam_Diacylglycerol_kinase_cat_dom,superfamily_ATP-NAD_kinase_PpnK-typ,smart_Diacylglycerol_kinase_cat_dom - no_errors CERK HGNC ENSG00000100422 21 0 0.00 14 3 16.67 CHL1 0 genome.wustl.edu 37 3 386284 386284 + Missense_Mutation SNP A A C TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 3 386284 386284 A C SNP CHL1 ENST00000256509 human ensembl 74_37 +1 known missense c.740 p.K247T 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CHL1 HGNC ENSG00000134121 54 0 0.00 34 23 40.35 CLRN1-AS1 0 genome.wustl.edu 37 3 150570302 150570302 + RNA SNP T T C TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 3 150570302 150570302 T C SNP CLRN1-AS1 ENST00000476886 human ensembl 74_37 +1 known rna NULL NULL 0.116 - - - no_errors CLRN1-AS1 HGNC ENSG00000239265 31 0 0.00 21 8 27.59 CNTNAP5 0 genome.wustl.edu 37 2 125547505 125547505 + Missense_Mutation SNP T T G TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 2 125547505 125547505 T G SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known missense c.2776 p.F926V 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 31 0 0.00 37 4 9.76 COL11A1 0 genome.wustl.edu 37 1 103343652 103343652 + Missense_Mutation SNP C C A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 1 103343652 103343652 C A SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known missense c.5380 p.D1794Y 1.000 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 66 0 0.00 35 22 38.60 COL11A1 0 genome.wustl.edu 37 1 103380335 103380335 + Silent SNP T T C TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 1 103380335 103380335 T C SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known silent c.3885 p.E1295 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 45 0 0.00 48 11 18.64 COL3A1 0 genome.wustl.edu 37 2 189864069 189864069 + Missense_Mutation SNP T T C TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 2 189864069 189864069 T C SNP COL3A1 ENST00000304636 human ensembl 74_37 +1 known missense c.2081 p.L694P 0.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL3A1 HGNC ENSG00000168542 55 0 0.00 35 11 23.91 COPA 0 genome.wustl.edu 37 1 160262334 160262334 + Missense_Mutation SNP C C T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 1 160262334 160262334 C T SNP COPA ENST00000368069 human ensembl 74_37 -1 known missense c.2927 p.R976H 1.000 pfam_Coatomer_asu_C,pirsf_Coatomer_asu pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors COPA HGNC ENSG00000122218 29 0 0.00 38 2 5.00 CPM 0 genome.wustl.edu 37 12 69252831 69252831 + Missense_Mutation SNP C C A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 12 69252831 69252831 C A SNP CPM ENST00000338356 human ensembl 74_37 -1 known missense c.961 p.D321Y 1.000 superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Aste_AspA,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPM HGNC ENSG00000135678 58 0 0.00 48 5 9.43 CPXCR1 0 genome.wustl.edu 37 X 88009209 88009209 + Missense_Mutation SNP T T G TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e X 88009209 88009209 T G SNP CPXCR1 ENST00000276127 human ensembl 74_37 +1 known missense c.794 p.V265G 0.000 NULL pfscan_Znf_C2H2 - no_errors CPXCR1 HGNC ENSG00000147183 58 0 0.00 26 46 63.89 CRY1 0 genome.wustl.edu 37 12 107399004 107399004 + Nonsense_Mutation SNP G G T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 12 107399004 107399004 G T SNP CRY1 ENST00000008527 human ensembl 74_37 -1 known nonsense c.290 p.S97* 1.000 pfam_DNA_photolyase_N,superfamily_DNA_photolyase_N pfam_Photolyase_FAD-bd/Cryptochr_C,pfam_DNA_photolyase_N,superfamily_Photolyase_FAD-bd/Cryptochr_C,superfamily_DNA_photolyase_N - no_errors CRY1 HGNC ENSG00000008405 44 0 0.00 39 4 9.30 CSMD3 0 genome.wustl.edu 37 8 113348960 113348960 + Silent SNP T T G TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 8 113348960 113348960 T G SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known silent c.6940 p.R2314 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 36 0 0.00 32 15 31.91 CSMD3 0 genome.wustl.edu 37 8 113363470 113363470 + Missense_Mutation SNP G G T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 8 113363470 113363470 G T SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.6259 p.H2087N 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 29 0 0.00 27 2 6.90 CTDP1 0 genome.wustl.edu 37 18 77477873 77477873 + Silent SNP G G A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 18 77477873 77477873 G A SNP CTDP1 ENST00000299543 human ensembl 74_37 +1 known silent c.2274 p.P758 0.001 pfam_FCP1_C pfam_FCP1_C,pfam_NIF,superfamily_HAD-like_dom,superfamily_BRCT_dom,superfamily_Single_hybrid_motif,smart_NIF,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_NIF,tigrfam_FCP1_euk - no_errors CTDP1 HGNC ENSG00000060069 66 0 0.00 38 40 51.28 CTNND2 0 genome.wustl.edu 37 5 11411748 11411748 + Silent SNP G G T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 5 11411748 11411748 G T SNP CTNND2 ENST00000304623 human ensembl 74_37 -1 known silent c.339 p.I113 0.999 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 36 0 0.00 37 7 15.91 CUL4B 0 genome.wustl.edu 37 X 119672585 119672585 + Silent SNP G G T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e X 119672585 119672585 G T SNP CUL4B ENST00000404115 human ensembl 74_37 -1 known silent c.1836 p.A612 0.997 pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL4B HGNC ENSG00000158290 49 0 0.00 39 4 9.09 CYP46A1 0 genome.wustl.edu 37 14 100184390 100184390 + Splice_Site SNP G G T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 14 100184390 100184390 G T SNP CYP46A1 ENST00000261835 human ensembl 74_37 +1 known splice_site c.908-1 e10-1 0.993 - - - no_errors CYP46A1 HGNC ENSG00000036530 40 0 0.00 36 4 10.00 DAPK1 0 genome.wustl.edu 37 9 90322065 90322065 + Missense_Mutation SNP C C T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 9 90322065 90322065 C T SNP DAPK1 ENST00000469640 human ensembl 74_37 +1 known missense c.4154 p.A1385V 1.000 pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt - no_errors DAPK1 HGNC ENSG00000196730 21 0 0.00 20 3 13.04 DENND4C 0 genome.wustl.edu 37 9 19336364 19336364 + Nonsense_Mutation SNP C C T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 9 19336364 19336364 C T SNP DENND4C ENST00000602925 human ensembl 74_37 +1 known nonsense c.2686 p.Q896* 1.000 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4C HGNC ENSG00000137145 43 0 0.00 43 3 6.52 DGKZ 0 genome.wustl.edu 37 11 46393632 46393632 + Missense_Mutation SNP G G A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 11 46393632 46393632 G A SNP DGKZ ENST00000454345 human ensembl 74_37 +1 known missense c.1403 p.R468H 1.000 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKZ HGNC ENSG00000149091 59 0 0.00 49 3 5.77 DIAPH2 0 genome.wustl.edu 37 X 96192269 96192269 + Missense_Mutation SNP A A T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e X 96192269 96192269 A T SNP DIAPH2 ENST00000324765 human ensembl 74_37 +1 known missense c.1127 p.Q376L 1.000 pfam_FH3_dom,superfamily_ARM-type_fold pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DIAPH2 HGNC ENSG00000147202 39 0 0.00 21 16 43.24 DNAH11 0 genome.wustl.edu 37 7 21641052 21641052 + Missense_Mutation SNP C C A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 7 21641052 21641052 C A SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known missense c.3464 p.S1155Y 0.114 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 66 0 0.00 57 29 33.72 DNAH3 0 genome.wustl.edu 37 16 20976007 20976007 + Missense_Mutation SNP C C T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 16 20976007 20976007 C T SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.9199 p.D3067N 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 21 0 0.00 12 11 47.83 DPF1 0 genome.wustl.edu 37 19 38709597 38709597 + Missense_Mutation SNP C C T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 19 38709597 38709597 C T SNP DPF1 ENST00000355526 human ensembl 74_37 -1 known missense c.481 p.E161K 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_C2H2-like,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2 - no_errors DPF1 HGNC ENSG00000011332 34 0 0.00 66 4 5.71 DRD1 0 genome.wustl.edu 37 5 174869940 174869940 + Missense_Mutation SNP G G A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 5 174869940 174869940 G A SNP DRD1 ENST00000393752 human ensembl 74_37 -1 known missense c.163 p.R55W 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D1_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt,prints_ADR_fam - no_errors DRD1 HGNC ENSG00000184845 14 0 0.00 9 5 35.71 DSP 0 genome.wustl.edu 37 6 7583070 7583070 + Missense_Mutation SNP C C A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 6 7583070 7583070 C A SNP DSP ENST00000379802 human ensembl 74_37 +1 known missense c.5575 p.Q1859K 1.000 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 39 0 0.00 43 4 8.51 DST 0 genome.wustl.edu 37 6 56365979 56365979 + Nonsense_Mutation SNP C C A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 6 56365979 56365979 C A SNP DST ENST00000370754 human ensembl 74_37 -1 known nonsense c.19702 p.E6568* 1.000 pfam_Spectrin_repeat,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 65 0 0.00 55 3 5.17 ECHDC3 0 genome.wustl.edu 37 10 11805265 11805265 + Missense_Mutation SNP C C A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 10 11805265 11805265 C A SNP ECHDC3 ENST00000379215 human ensembl 74_37 +1 known missense c.634 p.Q212K 0.993 pfam_Crotonase_core_superfam pfam_Crotonase_core_superfam - no_errors ECHDC3 HGNC ENSG00000134463 44 0 0.00 61 4 6.15 EFCAB10 0 genome.wustl.edu 37 7 105207563 105207563 + RNA DEL C C - TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 7 105207563 105207563 C 0 DEL EFCAB10 ENST00000490493 human ensembl 74_37 -1 known rna NULL NULL 0.975 - - - no_errors EFCAB10 HGNC ENSG00000185055 21 0 0.00 8 12 60.00 EMR1 0 genome.wustl.edu 37 19 6904062 6904062 + Missense_Mutation SNP G G A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 19 6904062 6904062 G A SNP EMR1 ENST00000312053 human ensembl 74_37 +1 known missense c.818 p.R273H 0.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like - no_errors EMR1 HGNC ENSG00000174837 39 0 0.00 36 4 10.00 ENSG00000255470 0 genome.wustl.edu 37 11 18210806 18210806 + Silent SNP A A G TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 11 18210806 18210806 A G SNP ENSG00000255470 ENST00000527671 human ensembl 74_37 -1 novel silent c.112 p.L38 0.988 NULL NULL - no_errors RP11-113D6.6 Clone_based_vega_gene ENSG00000255470 63 0 0.00 26 17 39.53 ENSG00000264151 0 genome.wustl.edu 37 18 25081766 25081767 + RNA INS - - T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 18 25081766 25081767 0 T INS ENSG00000264151 ENST00000584546 human ensembl 74_37 -1 known rna NULL NULL 0.079:0.061 - - - no_errors RP11-739N10.1 Clone_based_vega_gene ENSG00000264151 15 0 0.00 10 5 33.33 EPHA6 0 genome.wustl.edu 37 3 97124070 97124070 + Silent SNP T T C TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 3 97124070 97124070 T C SNP EPHA6 ENST00000389672 human ensembl 74_37 +1 known silent c.1683 p.A561 0.997 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA6 HGNC ENSG00000080224 62 0 0.00 39 8 17.02 ERBB2 0 genome.wustl.edu 37 17 37881021 37881021 + Missense_Mutation SNP C C T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 17 37881021 37881021 C T SNP ERBB2 ENST00000269571 human ensembl 74_37 +1 known missense c.2350 p.R784C 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 69 0 0.00 106 29 21.48 EVC2 0 genome.wustl.edu 37 4 5664869 5664869 + Silent SNP G G A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 4 5664869 5664869 G A SNP EVC2 ENST00000344408 human ensembl 74_37 -1 known silent c.1110 p.S370 0.025 pfam_Limbin pfam_Limbin - no_errors EVC2 HGNC ENSG00000173040 39 0 0.00 16 20 55.56 EVX2 0 genome.wustl.edu 37 2 176948260 176948260 + Missense_Mutation SNP G G A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 2 176948260 176948260 G A SNP EVX2 ENST00000308618 human ensembl 74_37 -1 known missense c.245 p.T82M 0.999 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Antifreeze_1,prints_Homeobox_metazoa - no_errors EVX2 HGNC ENSG00000174279 69 0 0.00 45 12 21.05 FAM120A 0 genome.wustl.edu 37 9 96326653 96326653 + Missense_Mutation SNP A A G TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 9 96326653 96326653 A G SNP FAM120A ENST00000333936 human ensembl 74_37 +1 known missense c.3272 p.Q1091R 1.000 NULL NULL - no_errors FAM120A HGNC ENSG00000048828 27 0 0.00 18 4 18.18 FAT4 0 genome.wustl.edu 37 4 126336650 126336650 + Missense_Mutation SNP G G A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 4 126336650 126336650 G A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.6532 p.A2178T 0.998 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 60 0 0.00 37 2 5.13 FBXO27 0 genome.wustl.edu 37 19 39516071 39516071 + Missense_Mutation SNP C C T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 19 39516071 39516071 C T SNP FBXO27 ENST00000292853 human ensembl 74_37 -1 known missense c.832 p.V278M 0.000 pfam_F-box-assoc_dom,superfamily_Galactose-bd-like,pfscan_F-box-assoc_dom pfam_F-box-assoc_dom,pfam_F-box_dom,superfamily_Galactose-bd-like,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom,pfscan_F-box-assoc_dom - no_errors FBXO27 HGNC ENSG00000161243 71 0 0.00 48 34 41.46 FEN1 0 genome.wustl.edu 37 11 61563401 61563401 + Silent SNP C C T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 11 61563401 61563401 C T SNP FEN1 ENST00000305885 human ensembl 74_37 +1 known silent c.568 p.L190 1.000 pfam_XPG-I_dom,smart_XPG-I_dom pfam_XPG_DNA_repair_N,pfam_XPG-I_dom,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2 - no_errors FEN1 HGNC ENSG00000168496 25 0 0.00 20 6 23.08 FGR 0 genome.wustl.edu 37 1 27942113 27942113 + Missense_Mutation SNP C C T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 1 27942113 27942113 C T SNP FGR ENST00000374003 human ensembl 74_37 -1 known missense c.850 p.G284S 0.988 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 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 FGR HGNC ENSG00000000938 30 0 0.00 19 8 29.63 FOXP1 0 genome.wustl.edu 37 3 71247109 71247109 + Silent SNP A A C TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 3 71247109 71247109 A C SNP FOXP1 ENST00000318779 human ensembl 74_37 -1 putative silent c.291 p.V97 0.000 NULL NULL - no_errors FOXP1 HGNC ENSG00000114861 45 0 0.00 74 32 30.19 FOXP1 0 genome.wustl.edu 37 3 71247201 71247201 + Missense_Mutation SNP G G T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 3 71247201 71247201 G T SNP FOXP1 ENST00000318779 human ensembl 74_37 -1 putative missense c.199 p.Q67K 0.000 NULL NULL - no_errors FOXP1 HGNC ENSG00000114861 31 0 0.00 76 6 7.32 GABRP 0 genome.wustl.edu 37 5 170239137 170239137 + Missense_Mutation SNP G G A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 5 170239137 170239137 G A SNP GABRP ENST00000265294 human ensembl 74_37 +1 known missense c.1198 p.G400S 0.991 superfamily_Neurotrans-gated_channel_TM,prints_GABAAp_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAp_rcpt,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRP HGNC ENSG00000094755 69 0 0.00 79 16 16.84 GALNT18 0 genome.wustl.edu 37 11 11354261 11354261 + Missense_Mutation SNP C C T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 11 11354261 11354261 C T SNP GALNT18 ENST00000227756 human ensembl 74_37 -1 known missense c.1396 p.D466N 1.000 superfamily_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT18 HGNC ENSG00000110328 33 0 0.00 53 3 5.36 GAS2L2 0 genome.wustl.edu 37 17 34077215 34077215 + Nonsense_Mutation SNP G G A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 17 34077215 34077215 G A SNP GAS2L2 ENST00000254466 human ensembl 74_37 -1 known nonsense c.508 p.Q170* 1.000 superfamily_CH-domain pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L2 HGNC ENSG00000132139 42 0 0.00 33 2 5.71 GBP2 0 genome.wustl.edu 37 1 89573945 89573945 + Silent SNP G G A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 1 89573945 89573945 G A SNP GBP2 ENST00000370466 human ensembl 74_37 -1 known silent c.1689 p.F563 0.000 pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP2 HGNC ENSG00000162645 66 0 0.00 62 16 20.51 GJB5 0 genome.wustl.edu 37 1 35223091 35223091 + Missense_Mutation SNP A A G TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 1 35223091 35223091 A G SNP GJB5 ENST00000338513 human ensembl 74_37 +1 known missense c.160 p.N54D 1.000 pfam_Connexin_N,smart_Connexin_N,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin311 - no_errors GJB5 HGNC ENSG00000189280 115 0 0.00 75 20 21.05 GOLGA6L5 0 genome.wustl.edu 37 15 85053127 85053127 + RNA SNP T T G TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 15 85053127 85053127 T G SNP GOLGA6L5 ENST00000414190 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors GOLGA6L5 HGNC ENSG00000230373 104 0 0.00 69 7 9.21 GPHN 0 genome.wustl.edu 37 14 67382739 67382739 + Missense_Mutation SNP G G T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 14 67382739 67382739 G T SNP GPHN ENST00000478722 human ensembl 74_37 +1 known missense c.409 p.G137W 1.000 pfam_Mopterin-bd_dom,superfamily_Mopterin-bd_dom,smart_Mopterin-bd_dom,tigrfam_Mo_cofactor_synthesis pfam_Mopterin-bd_dom,pfam_MoeA_linker/N,pfam_MoeA_C_domain_IV,superfamily_MoeA_linker/N,superfamily_Mopterin-bd_dom,superfamily_MoeA_C_domain_IV,smart_Mopterin-bd_dom,tigrfam_Mo_cofactor_synthesis - no_errors GPHN HGNC ENSG00000171723 61 0 0.00 66 4 5.71 GPR124 0 genome.wustl.edu 37 8 37691252 37691252 + Missense_Mutation SNP G G A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 8 37691252 37691252 G A SNP GPR124 ENST00000412232 human ensembl 74_37 +1 known missense c.1343 p.R448H 0.989 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom - no_errors GPR124 HGNC ENSG00000020181 35 0 0.00 30 9 23.08 GPR19 0 genome.wustl.edu 37 12 12814459 12814459 + Missense_Mutation SNP A A C TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 12 12814459 12814459 A C SNP GPR19 ENST00000332427 human ensembl 74_37 -1 known missense c.924 p.S308R 0.995 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR19 HGNC ENSG00000183150 47 0 0.00 22 22 50.00 GRIA1 0 genome.wustl.edu 37 5 152873587 152873587 + Missense_Mutation SNP T T C TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 5 152873587 152873587 T C SNP GRIA1 ENST00000448073 human ensembl 74_37 +1 known missense c.212 p.I71T 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA1 HGNC ENSG00000155511 37 0 0.00 25 10 28.57 GRID2IP 0 genome.wustl.edu 37 7 6537450 6537450 + Silent SNP C C T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 7 6537450 6537450 C T SNP GRID2IP ENST00000457091 human ensembl 74_37 -1 putative silent c.3591 p.G1197 0.127 smart_FH2_Formin pfam_FH2_Formin,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_FH2_Formin,pfscan_PDZ - no_errors GRID2IP HGNC ENSG00000215045 33 0 0.00 19 10 34.48 GRPEL2 0 genome.wustl.edu 37 5 148730657 148730657 + Missense_Mutation SNP G G C TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 5 148730657 148730657 G C SNP GRPEL2 ENST00000329271 human ensembl 74_37 +1 known missense c.490 p.E164Q 1.000 pfam_GrpE,superfamily_GrpE_head pfam_GrpE,superfamily_GrpE_head,prints_GrpE - no_errors GRPEL2 HGNC ENSG00000164284 16 0 0.00 26 2 7.14 GUCY2F 0 genome.wustl.edu 37 X 108638591 108638591 + Silent SNP A A C TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e X 108638591 108638591 A C SNP GUCY2F ENST00000218006 human ensembl 74_37 -1 known silent c.2403 p.T801 0.975 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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Haem_no_assoc-bd,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors GUCY2F HGNC ENSG00000101890 16 0 0.00 2 9 75.00 HCN1 0 genome.wustl.edu 37 5 45396616 45396616 + Missense_Mutation SNP G G A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 5 45396616 45396616 G A SNP HCN1 ENST00000303230 human ensembl 74_37 -1 known missense c.1208 p.S403L 1.000 superfamily_cNMP-bd-like pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN1 HGNC ENSG00000164588 37 0 0.00 29 8 21.62 HIST1H1B 0 genome.wustl.edu 37 6 27834859 27834859 + Missense_Mutation SNP T T C TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 6 27834859 27834859 T C SNP HIST1H1B ENST00000331442 human ensembl 74_37 -1 known missense c.449 p.K150R 0.999 NULL pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1B HGNC ENSG00000184357 34 0 0.00 14 19 55.88 HIST1H1C 0 genome.wustl.edu 37 6 26056307 26056307 + Missense_Mutation SNP T T C TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 6 26056307 26056307 T C SNP HIST1H1C ENST00000343677 human ensembl 74_37 -1 known missense c.350 p.K117R 1.000 NULL pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1C HGNC ENSG00000187837 30 0 0.00 12 21 63.64 HMCN1 0 genome.wustl.edu 37 1 185891577 185891577 + Missense_Mutation SNP T T G TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 1 185891577 185891577 T G SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.967 p.F323V 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 50 0 0.00 52 9 14.75 HMCN1 0 genome.wustl.edu 37 1 186031030 186031030 + Nonsense_Mutation SNP C C T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 1 186031030 186031030 C T SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known nonsense c.7360 p.Q2454* 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 74 0 0.00 48 4 7.69 HSPA9 0 genome.wustl.edu 37 5 137895569 137895569 + Missense_Mutation SNP G G T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 5 137895569 137895569 G T SNP HSPA9 ENST00000297185 human ensembl 74_37 -1 known missense c.1394 p.P465Q 1.000 pfam_Hsp_70_fam,tigrfam_Chaperone_DnaK pfam_Hsp_70_fam,pfam_MreB_Mrl,pfam_Carb_kinase_FGGY_C,prints_Hsp_70_fam,tigrfam_Chaperone_DnaK - no_errors HSPA9 HGNC ENSG00000113013 76 0 0.00 59 4 6.35 HTR3D 0 genome.wustl.edu 37 3 183756275 183756275 + Missense_Mutation SNP T T C TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 3 183756275 183756275 T C SNP HTR3D ENST00000382489 human ensembl 74_37 +1 known missense c.998 p.V333A 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd - no_errors HTR3D HGNC ENSG00000186090 42 0 0.00 33 8 19.51 HVCN1 0 genome.wustl.edu 37 12 111099082 111099082 + Missense_Mutation SNP C C T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 12 111099082 111099082 C T SNP HVCN1 ENST00000242607 human ensembl 74_37 -1 known missense c.193 p.E65K 0.059 NULL pfam_Ion_trans_dom - no_errors HVCN1 HGNC ENSG00000122986 129 0 0.00 53 61 53.51 IGF1R 0 genome.wustl.edu 37 15 99434636 99434636 + Silent SNP G G A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 15 99434636 99434636 G A SNP IGF1R ENST00000268035 human ensembl 74_37 +1 known silent c.723 p.A241 0.001 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors IGF1R HGNC ENSG00000140443 27 0 0.00 21 4 16.00 IQGAP1 0 genome.wustl.edu 37 15 91016157 91016157 + Missense_Mutation SNP G G A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 15 91016157 91016157 G A SNP IQGAP1 ENST00000268182 human ensembl 74_37 +1 known missense c.2264 p.R755H 0.868 pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_WW_dom,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP - no_errors IQGAP1 HGNC ENSG00000140575 31 0 0.00 37 2 5.13 ITGA2 0 genome.wustl.edu 37 5 52385875 52385875 + Missense_Mutation SNP G G T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 5 52385875 52385875 G T SNP ITGA2 ENST00000296585 human ensembl 74_37 +1 known missense c.3448 p.V1150F 0.227 prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA2 HGNC ENSG00000164171 104 0 0.00 87 13 13.00 ITPKB 0 genome.wustl.edu 37 1 226825421 226825421 + Silent SNP G G T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 1 226825421 226825421 G T SNP ITPKB ENST00000272117 human ensembl 74_37 -1 known silent c.2584 p.R862 0.991 pfam_IPK pfam_IPK - no_errors ITPKB HGNC ENSG00000143772 28 0 0.00 21 2 8.70 KCNN2 0 genome.wustl.edu 37 5 113698686 113698686 + Missense_Mutation SNP G G A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 5 113698686 113698686 G A SNP KCNN2 ENST00000264773 human ensembl 74_37 +1 known missense c.214 p.E72K 1.000 NULL pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN2 HGNC ENSG00000080709 39 0 0.00 27 4 12.12 KCNQ3 0 genome.wustl.edu 37 8 133184938 133184938 + Silent SNP G G T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 8 133184938 133184938 G T SNP KCNQ3 ENST00000388996 human ensembl 74_37 -1 known silent c.1047 p.G349 0.970 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ3 HGNC ENSG00000184156 24 0 0.00 15 6 28.57 KCNQ5 0 genome.wustl.edu 37 6 73904395 73904395 + Missense_Mutation SNP G G T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 6 73904395 73904395 G T SNP KCNQ5 ENST00000402622 human ensembl 74_37 +1 known missense c.2087 p.R696I 0.982 NULL pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ5 HGNC ENSG00000185760 34 0 0.00 21 2 8.70 KDM5B 0 genome.wustl.edu 37 1 202709863 202709863 + Missense_Mutation SNP G G A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 1 202709863 202709863 G A SNP KDM5B ENST00000367264 human ensembl 74_37 -1 known missense c.3131 p.A1044V 0.001 pfam_Lys_sp_deMease_like_dom pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5B HGNC ENSG00000117139 36 0 0.00 37 4 9.76 KDM6B 0 genome.wustl.edu 37 17 7752830 7752830 + Missense_Mutation SNP G G A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 17 7752830 7752830 G A SNP KDM6B ENST00000254846 human ensembl 74_37 +1 known missense c.3224 p.R1075Q 0.904 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM6B HGNC ENSG00000132510 75 0 0.00 28 39 58.21 KIAA0100 0 genome.wustl.edu 37 17 26958852 26958852 + Missense_Mutation SNP C C T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 17 26958852 26958852 C T SNP KIAA0100 ENST00000528896 human ensembl 74_37 -1 known missense c.4082 p.R1361Q 1.000 NULL pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC ENSG00000007202 20 0 0.00 27 4 12.90 KIF4B 0 genome.wustl.edu 37 5 154396400 154396400 + Missense_Mutation SNP T T G TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 5 154396400 154396400 T G SNP KIF4B ENST00000435029 human ensembl 74_37 +1 known missense c.2981 p.L994R 0.976 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4B HGNC ENSG00000226650 38 0 0.00 39 17 30.36 KIR2DL2 0 genome.wustl.edu 37 GL000209.1 18675 18675 + Silent SNP C C T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e GL000209.1 18675 18675 C T SNP KIR2DL2 ENST00000400875 human ensembl 74_37 +1 known silent c.996 p.I332 NULL NULL pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2 - no_errors KIR2DL2 HGNC ENSG00000215764 153 0 0.00 110 30 21.43 KLB 0 genome.wustl.edu 37 4 39408705 39408705 + Silent SNP C C T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 4 39408705 39408705 C T SNP KLB ENST00000257408 human ensembl 74_37 +1 known silent c.136 p.L46 0.005 NULL pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors KLB HGNC ENSG00000134962 32 0 0.00 23 13 36.11 KLKB1 0 genome.wustl.edu 37 4 187175794 187175794 + Missense_Mutation SNP G G C TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 4 187175794 187175794 G C SNP KLKB1 ENST00000264690 human ensembl 74_37 +1 known missense c.1366 p.D456H 0.928 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,smart_Apple,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Peptidase_S1,prints_Apple,prints_Peptidase_S1A - no_errors KLKB1 HGNC ENSG00000164344 35 0 0.00 38 3 7.32 LBX1 0 genome.wustl.edu 37 10 102987416 102987416 + Missense_Mutation SNP C C T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 10 102987416 102987416 C T SNP LBX1 ENST00000370193 human ensembl 74_37 -1 known missense c.457 p.A153T 0.996 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif - no_errors LBX1 HGNC ENSG00000138136 58 0 0.00 54 11 16.92 LCN9 0 genome.wustl.edu 37 9 138557177 138557177 + Missense_Mutation SNP G G A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 9 138557177 138557177 G A SNP LCN9 ENST00000277526 human ensembl 74_37 +1 known missense c.394 p.E132K 0.000 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Maj_urinary,prints_Odour-bd,prints_Blactoglobulin - no_errors LCN9 HGNC ENSG00000148386 58 0 0.00 43 10 18.87 LENG9 0 genome.wustl.edu 37 19 54973785 54973785 + Missense_Mutation SNP G G A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 19 54973785 54973785 G A SNP LENG9 ENST00000333834 human ensembl 74_37 -1 known missense c.991 p.P331S 0.000 superfamily_RNA_ligase/cNuc_Pdiesterase superfamily_RNA_ligase/cNuc_Pdiesterase,smart_Znf_CCCH - no_errors LENG9 HGNC ENSG00000182909 45 0 0.00 50 10 16.67 LINC00852 0 genome.wustl.edu 37 3 10326652 10326652 + RNA SNP G G A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 3 10326652 10326652 G A SNP LINC00852 ENST00000475197 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LINC00852 HGNC ENSG00000231177 52 0 0.00 25 22 46.81 LOC100190940 0 genome.wustl.edu 37 12 130521297 130521297 + RNA SNP G G A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 12 130521297 130521297 G A SNP LOC100190940 ENST00000291374 human ensembl 74_37 -1 known rna NULL NULL 0.808 - - - no_errors RP11-474D1.3 Clone_based_vega_gene ENSG00000214039 45 0 0.00 37 12 24.49 LPAL2 0 genome.wustl.edu 37 6 160908455 160908455 + RNA SNP G G T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 6 160908455 160908455 G T SNP LPAL2 ENST00000335388 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LPAL2 HGNC ENSG00000213071 53 0 0.00 47 4 7.69 LRFN5 0 genome.wustl.edu 37 14 42360955 42360955 + Missense_Mutation SNP C C T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 14 42360955 42360955 C T SNP LRFN5 ENST00000298119 human ensembl 74_37 +1 known missense c.1888 p.P630S 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN5 HGNC ENSG00000165379 40 0 0.00 37 2 5.13 LRP2 0 genome.wustl.edu 37 2 170115563 170115563 + Missense_Mutation SNP G G A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 2 170115563 170115563 G A SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.2485 p.R829W 0.983 smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 36 0 0.00 27 10 27.03 LSM14B 0 genome.wustl.edu 37 20 60705584 60705584 + Splice_Site SNP A A G TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 20 60705584 60705584 A G SNP LSM14B ENST00000253001 human ensembl 74_37 +1 known splice_site c.674-2 e6-2 0.995 - - - no_errors LSM14B HGNC ENSG00000149657 36 0 0.00 41 5 10.87 LY9 0 genome.wustl.edu 37 1 160784259 160784259 + Silent SNP C C T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 1 160784259 160784259 C T SNP LY9 ENST00000263285 human ensembl 74_37 +1 known silent c.780 p.V260 0.187 smart_Ig_sub smart_Ig_sub,pfscan_Ig-like_dom - no_errors LY9 HGNC ENSG00000122224 11 0 0.00 15 7 31.82 MAML2 0 genome.wustl.edu 37 11 95712485 95712485 + Missense_Mutation SNP C C T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 11 95712485 95712485 C T SNP MAML2 ENST00000524717 human ensembl 74_37 -1 known missense c.3098 p.S1033N 0.966 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML2 HGNC ENSG00000184384 41 0 0.00 38 18 32.14 MAOA 0 genome.wustl.edu 37 X 43591035 43591035 + Missense_Mutation SNP G G A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e X 43591035 43591035 G A SNP MAOA ENST00000338702 human ensembl 74_37 +1 known missense c.890 p.R297Q 1.000 pfam_Amino_oxidase pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_mOase_FAD-bd,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_FAD_bind_dom,prints_Flavin_amine_oxidase - no_errors MAOA HGNC ENSG00000189221 28 0 0.00 30 14 31.82 MAP4K2 0 genome.wustl.edu 37 11 64564480 64564480 + Missense_Mutation SNP C C T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 11 64564480 64564480 C T SNP MAP4K2 ENST00000294066 human ensembl 74_37 -1 known missense c.1381 p.G461R 1.000 NULL pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors MAP4K2 HGNC ENSG00000168067 87 0 0.00 57 20 25.97 MCOLN1 0 genome.wustl.edu 37 19 7592758 7592758 + Missense_Mutation SNP A A G TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 19 7592758 7592758 A G SNP MCOLN1 ENST00000264079 human ensembl 74_37 +1 known missense c.689 p.N230S 1.000 NULL pfam_PKD1_2_channel,superfamily_Glycoside_hydrolase_SF - no_errors MCOLN1 HGNC ENSG00000090674 73 0 0.00 35 43 55.13 MED1 0 genome.wustl.edu 37 17 37576108 37576108 + Missense_Mutation SNP T T G TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 17 37576108 37576108 T G SNP MED1 ENST00000300651 human ensembl 74_37 -1 known missense c.1159 p.S387R 0.998 pfam_Mediator_Med1_met/fun pfam_Mediator_Med1_met/fun - no_errors MED1 HGNC ENSG00000125686 56 0 0.00 46 28 37.84 MED12L 0 genome.wustl.edu 37 3 151087236 151087236 + Missense_Mutation SNP C C A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 3 151087236 151087236 C A SNP MED12L ENST00000474524 human ensembl 74_37 +1 known missense c.3458 p.P1153H 0.977 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 90 0 0.00 72 4 5.26 MED13 0 genome.wustl.edu 37 17 60072604 60072604 + Missense_Mutation SNP G G T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 17 60072604 60072604 G T SNP MED13 ENST00000397786 human ensembl 74_37 -1 known missense c.2090 p.P697Q 1.000 NULL pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC ENSG00000108510 54 0 0.00 62 10 13.89 MLLT3 0 genome.wustl.edu 37 9 20414379 20414379 + Silent SNP G G A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 9 20414379 20414379 G A SNP MLLT3 ENST00000380338 human ensembl 74_37 -1 known silent c.465 p.S155 0.991 NULL pfam_YEATS,pfscan_YEATS - no_errors MLLT3 HGNC ENSG00000171843 53 0 0.00 37 4 9.76 MOB3C 0 genome.wustl.edu 37 1 47078649 47078649 + Silent SNP C C T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 1 47078649 47078649 C T SNP MOB3C ENST00000271139 human ensembl 74_37 -1 known silent c.501 p.P167 0.237 pfam_Mob1_phocein,superfamily_Mob1_phocein pfam_Mob1_phocein,superfamily_Mob1_phocein - no_errors MOB3C HGNC ENSG00000142961 61 0 0.00 32 7 17.95 MPDZ 0 genome.wustl.edu 37 9 13247762 13247762 + Missense_Mutation SNP T T G TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 9 13247762 13247762 T G SNP MPDZ ENST00000319217 human ensembl 74_37 -1 known missense c.55 p.T19P 1.000 pfam_L27_2,pfscan_L27 pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC ENSG00000107186 51 0 0.00 20 4 16.67 MROH8 0 genome.wustl.edu 37 20 35752070 35752070 + Missense_Mutation SNP C C G TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 20 35752070 35752070 C G SNP MROH8 ENST00000400441 human ensembl 74_37 -1 known missense c.1918 p.D640H 0.545 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH8 HGNC ENSG00000101353 37 0 0.00 45 4 8.16 MSH5 0 genome.wustl.edu 37 6 31708323 31708323 + Missense_Mutation SNP C C T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 6 31708323 31708323 C T SNP MSH5 ENST00000375742 human ensembl 74_37 +1 known missense c.80 p.P27L 0.008 NULL pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH5 HGNC ENSG00000204410 18 0 0.00 13 13 50.00 MT1F 0 genome.wustl.edu 37 16 56693025 56693025 + Silent SNP C C T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 16 56693025 56693025 C T SNP MT1F ENST00000394501 human ensembl 74_37 +1 known silent c.138 p.A46 1.000 pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert - no_errors MT1F HGNC ENSG00000198417 91 0 0.00 69 19 21.59 MTHFR 0 genome.wustl.edu 37 1 11855311 11855311 + Missense_Mutation SNP G G A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 1 11855311 11855311 G A SNP MTHFR ENST00000376583 human ensembl 74_37 -1 known missense c.998 p.A333V 0.985 pfam_Mehydrof_redctse,tigrfam_Fadh2_euk pfam_Mehydrof_redctse,tigrfam_Fadh2_euk - no_errors MTHFR HGNC ENSG00000177000 15 0 0.00 28 3 9.68 MUC12 0 genome.wustl.edu 37 7 100646855 100646855 + Missense_Mutation SNP C C A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 7 100646855 100646855 C A SNP MUC12 ENST00000536621 human ensembl 74_37 +1 known missense c.13011 p.D4337E 0.001 NULL pfam_SEA_dom - no_errors MUC12 HGNC ENSG00000205277 230 0 0.00 187 25 11.79 MUC17 0 genome.wustl.edu 37 7 100685498 100685498 + Missense_Mutation SNP G G T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 7 100685498 100685498 G T SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.10801 p.V3601F 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 94 0 0.00 78 5 6.02 MYH2 0 genome.wustl.edu 37 17 10428384 10428384 + Splice_Site SNP T T G TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 17 10428384 10428384 T G SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known splice_site c.4663-2 e32-2 0.992 - - - no_errors MYH2 HGNC ENSG00000125414 63 0 0.00 27 24 47.06 MYH4 0 genome.wustl.edu 37 17 10356581 10356581 + Missense_Mutation SNP T T G TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 17 10356581 10356581 T G SNP MYH4 ENST00000255381 human ensembl 74_37 -1 known missense c.2999 p.K1000T 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 136 0 0.00 61 49 44.55 NBAS 0 genome.wustl.edu 37 2 15618399 15618399 + Missense_Mutation SNP G G T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 2 15618399 15618399 G T SNP NBAS ENST00000281513 human ensembl 74_37 -1 known missense c.1098 p.D366E 0.978 superfamily_Quino_amine_DH_bsu pfam_Sec39,superfamily_Quino_amine_DH_bsu - no_errors NBAS HGNC ENSG00000151779 31 0 0.00 54 4 6.90 NCAPD2 0 genome.wustl.edu 37 12 6624087 6624087 + Splice_Site SNP G G T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 12 6624087 6624087 G T SNP NCAPD2 ENST00000315579 human ensembl 74_37 +1 known splice_site c.987+1 e8+1 1.000 - - - no_errors NCAPD2 HGNC ENSG00000010292 25 0 0.00 34 2 5.56 NEB 0 genome.wustl.edu 37 2 152392295 152392295 + Missense_Mutation SNP T T G TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 2 152392295 152392295 T G SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.21222 p.E7074D 0.979 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 30 0 0.00 19 15 44.12 NFATC3 0 genome.wustl.edu 37 16 68224878 68224878 + Missense_Mutation SNP G G A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 16 68224878 68224878 G A SNP NFATC3 ENST00000346183 human ensembl 74_37 +1 known missense c.2306 p.C769Y 1.000 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC3 HGNC ENSG00000072736 27 0 0.00 31 4 11.43 NPAP1 0 genome.wustl.edu 37 15 24923216 24923216 + Silent SNP A A G TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 15 24923216 24923216 A G SNP NPAP1 ENST00000329468 human ensembl 74_37 +1 known silent c.2202 p.Q734 0.000 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 24 0 0.00 22 9 29.03 NPAS2 0 genome.wustl.edu 37 2 101549428 101549428 + Missense_Mutation SNP C C T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 2 101549428 101549428 C T SNP NPAS2 ENST00000542504 human ensembl 74_37 +1 known missense c.433 p.L145F 1.000 superfamily_bHLH_dom,prints_Nuc_translocat pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS - no_errors NPAS2 HGNC ENSG00000170485 27 0 0.00 19 5 20.83 NSUN3 0 genome.wustl.edu 37 3 93813066 93813066 + Missense_Mutation SNP G G C TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 3 93813066 93813066 G C SNP NSUN3 ENST00000314622 human ensembl 74_37 +1 known missense c.549 p.L183F 0.014 pfam_Fmu/NOL1/Nop2p pfam_Fmu/NOL1/Nop2p,prints_RCMT - no_errors NSUN3 HGNC ENSG00000178694 47 0 0.00 39 7 15.22 NUPR1 0 genome.wustl.edu 37 16 28549402 28549402 + Missense_Mutation SNP C C T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 16 28549402 28549402 C T SNP NUPR1 ENST00000324873 human ensembl 74_37 -1 known missense c.187 p.E63K 1.000 pfam_Nuclear_phosphoprot_p8_DNA-bd pfam_Nuclear_phosphoprot_p8_DNA-bd - no_errors NUPR1 HGNC ENSG00000176046 27 0 0.00 38 15 28.30 NYX 0 genome.wustl.edu 37 X 41332760 41332760 + Silent SNP G G T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e X 41332760 41332760 G T SNP NYX ENST00000342595 human ensembl 74_37 +1 known silent c.54 p.L18 0.990 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors NYX HGNC ENSG00000188937 20 0 0.00 12 15 55.56 OPTC 0 genome.wustl.edu 37 1 203472138 203472138 + Splice_Site SNP G G A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 1 203472138 203472138 G A SNP OPTC ENST00000367222 human ensembl 74_37 +1 known splice_site c.828+1 e5+1 1.000 - - - no_errors OPTC HGNC ENSG00000188770 26 0 0.00 18 5 21.74 OR10A5 0 genome.wustl.edu 37 11 6867411 6867411 + Silent SNP T T C TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 11 6867411 6867411 T C SNP OR10A5 ENST00000379831 human ensembl 74_37 +1 known silent c.510 p.S170 0.940 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10A5 HGNC ENSG00000166363 40 0 0.00 28 11 28.21 OR2A1 0 genome.wustl.edu 37 7 144015576 144015576 + Missense_Mutation SNP A A G TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 7 144015576 144015576 A G SNP OR2A1 ENST00000408951 human ensembl 74_37 +1 known missense c.359 p.D120G 0.997 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 OR2A1 HGNC ENSG00000221970 97 0 0.00 94 10 9.62 OR2F1 0 genome.wustl.edu 37 7 143657735 143657735 + Silent SNP C C T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 7 143657735 143657735 C T SNP OR2F1 ENST00000392899 human ensembl 74_37 +1 known silent c.672 p.T224 0.005 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2F1 HGNC ENSG00000213215 53 0 0.00 55 3 5.17 OR2T33 0 genome.wustl.edu 37 1 248436861 248436861 + Missense_Mutation SNP C C T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 1 248436861 248436861 C T SNP OR2T33 ENST00000318021 human ensembl 74_37 -1 known missense c.256 p.G86R 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T33 HGNC ENSG00000177212 134 0 0.00 112 88 44.00 OR4C6 0 genome.wustl.edu 37 11 55432790 55432790 + Missense_Mutation SNP A A C TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 11 55432790 55432790 A C SNP OR4C6 ENST00000314259 human ensembl 74_37 +1 known missense c.148 p.S50R 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C6 HGNC ENSG00000181903 28 0 0.00 11 8 42.11 OR5R1 0 genome.wustl.edu 37 11 56185440 56185440 + Missense_Mutation SNP T T A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 11 56185440 56185440 T A SNP OR5R1 ENST00000312253 human ensembl 74_37 -1 known missense c.269 p.N90I 0.063 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5R1 HGNC ENSG00000174942 16 0 0.00 16 9 36.00 OR8B2 0 genome.wustl.edu 37 11 124252988 124252988 + Missense_Mutation SNP G G C TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 11 124252988 124252988 G C SNP OR8B2 ENST00000375013 human ensembl 74_37 -1 known missense c.252 p.N84K 0.042 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8B2 HGNC ENSG00000204293 49 0 0.00 29 6 17.14 PARVB 0 genome.wustl.edu 37 22 44514957 44514957 + Missense_Mutation SNP A A G TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 22 44514957 44514957 A G SNP PARVB ENST00000406477 human ensembl 74_37 +1 known missense c.412 p.R138G 0.325 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors PARVB HGNC ENSG00000188677 25 0 0.00 30 4 11.76 PASD1 0 genome.wustl.edu 37 X 150840247 150840247 + Missense_Mutation SNP A A C TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e X 150840247 150840247 A C SNP PASD1 ENST00000370357 human ensembl 74_37 +1 known missense c.1433 p.N478T 0.000 NULL superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PASD1 HGNC ENSG00000166049 17 0 0.00 17 17 50.00 PCDH19 0 genome.wustl.edu 37 X 99551696 99551696 + Missense_Mutation SNP C C A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e X 99551696 99551696 C A SNP PCDH19 ENST00000373034 human ensembl 74_37 -1 known missense c.3026 p.G1009V 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH19 HGNC ENSG00000165194 18 0 0.00 12 12 50.00 PCK2 0 genome.wustl.edu 37 14 24569441 24569441 + Missense_Mutation SNP G G C TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 14 24569441 24569441 G C SNP PCK2 ENST00000396973 human ensembl 74_37 +1 known missense c.1253 p.G418A 0.000 NULL pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N - no_errors PCK2 HGNC ENSG00000100889 29 0 0.00 16 3 15.79 PCLO 0 genome.wustl.edu 37 7 82532030 82532030 + Missense_Mutation SNP G G T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 7 82532030 82532030 G T SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.13465 p.H4489N 0.996 superfamily_PDZ pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 80 0 0.00 69 4 5.48 PDE1B 0 genome.wustl.edu 37 12 54970422 54970422 + Missense_Mutation SNP C C A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 12 54970422 54970422 C A SNP PDE1B ENST00000243052 human ensembl 74_37 +1 known missense c.1444 p.R482S 1.000 NULL pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1B HGNC ENSG00000123360 46 0 0.00 44 3 6.38 PDZD2 0 genome.wustl.edu 37 5 31983574 31983574 + Missense_Mutation SNP T T G TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 5 31983574 31983574 T G SNP PDZD2 ENST00000282493 human ensembl 74_37 +1 known missense c.790 p.F264V 0.052 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 28 0 0.00 19 12 38.71 PFKM 0 genome.wustl.edu 37 12 48539352 48539352 + Missense_Mutation SNP G G T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 12 48539352 48539352 G T SNP PFKM ENST00000312352 human ensembl 74_37 +1 known missense c.2204 p.R735L 1.000 superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk - no_errors PFKM HGNC ENSG00000152556 14 0 0.00 16 2 11.11 PIK3CA 0 genome.wustl.edu 37 3 178936096 178936096 + Missense_Mutation SNP G G C TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 3 178936096 178936096 G C SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.1638 p.Q546H 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_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 75 0 0.00 74 9 10.84 PKHD1L1 0 genome.wustl.edu 37 8 110465006 110465006 + Missense_Mutation SNP A A C TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 8 110465006 110465006 A C SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.6567 p.K2189N 0.000 pfam_G8_domain 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 88 0 0.00 74 15 16.85 PLAU 0 genome.wustl.edu 37 10 75673062 75673062 + Missense_Mutation SNP G G A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 10 75673062 75673062 G A SNP PLAU ENST00000372764 human ensembl 74_37 +1 known missense c.383 p.R128Q 0.011 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Peptidase_S1,pfam_Kringle,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PLAU HGNC ENSG00000122861 31 0 0.00 20 9 31.03 PLB1 0 genome.wustl.edu 37 2 28804940 28804940 + Silent SNP C C T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 2 28804940 28804940 C T SNP PLB1 ENST00000329020 human ensembl 74_37 +1 known silent c.636 p.H212 0.001 pfam_Lipase_GDSL pfam_Lipase_GDSL - no_errors PLB1 HGNC ENSG00000163803 45 0 0.00 39 8 17.02 PLEKHH2 0 genome.wustl.edu 37 2 43927611 43927611 + Missense_Mutation SNP C C T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 2 43927611 43927611 C T SNP PLEKHH2 ENST00000282406 human ensembl 74_37 +1 known missense c.1514 p.T505M 0.174 NULL pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH2 HGNC ENSG00000152527 36 0 0.00 32 2 5.88 PRB4 0 genome.wustl.edu 37 12 11461446 11461446 + Silent SNP A A G TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 12 11461446 11461446 A G SNP PRB4 ENST00000279575 human ensembl 74_37 -1 known silent c.471 p.P157 0.000 NULL NULL - no_errors PRB4 HGNC ENSG00000230657 112 0 0.00 57 37 39.36 PRG4 0 genome.wustl.edu 37 1 186276565 186276565 + Missense_Mutation SNP A A G TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 1 186276565 186276565 A G SNP PRG4 ENST00000445192 human ensembl 74_37 +1 known missense c.1714 p.T572A 0.000 NULL pfam_Somatomedin_B_dom,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom - no_errors PRG4 HGNC ENSG00000116690 89 0 0.00 76 5 5.88 PRICKLE2 0 genome.wustl.edu 37 3 64132935 64132935 + Missense_Mutation SNP G G T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 3 64132935 64132935 G T SNP PRICKLE2 ENST00000295902 human ensembl 74_37 -1 known missense c.1231 p.Q411K 0.996 NULL pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE2 HGNC ENSG00000163637 53 0 0.00 58 4 6.35 PRKCB 0 genome.wustl.edu 37 16 24196805 24196805 + Missense_Mutation SNP G G T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 16 24196805 24196805 G T SNP PRKCB ENST00000303531 human ensembl 74_37 +1 known missense c.1639 p.D547Y 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,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_C2_dom - no_errors PRKCB HGNC ENSG00000166501 16 0 0.00 19 7 26.92 PRKCG 0 genome.wustl.edu 37 19 54401237 54401237 + Missense_Mutation SNP T T A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 19 54401237 54401237 T A SNP PRKCG ENST00000540413 human ensembl 74_37 +1 known missense c.964 p.S322T 1.000 pirsf_Protein_kinase_C_a/b/g pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,prints_DAG/PE-bd,prints_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors PRKCG HGNC ENSG00000126583 71 0 0.00 92 7 6.93 PRKD2 0 genome.wustl.edu 37 19 47181788 47181788 + Missense_Mutation SNP A A T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 19 47181788 47181788 A T SNP PRKD2 ENST00000291281 human ensembl 74_37 -1 known missense c.2203 p.W735R 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_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKD2 HGNC ENSG00000105287 67 0 0.00 62 22 25.88 PRKRIR 0 genome.wustl.edu 37 11 76063648 76063648 + Silent SNP A A G TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 11 76063648 76063648 A G SNP PRKRIR ENST00000260045 human ensembl 74_37 -1 known silent c.546 p.P182 0.868 NULL pfam_Znf_C2CH,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors PRKRIR HGNC ENSG00000137492 100 0 0.00 65 19 22.62 PRR14L 0 genome.wustl.edu 37 22 32108594 32108594 + Missense_Mutation SNP G G A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 22 32108594 32108594 G A SNP PRR14L ENST00000397493 human ensembl 74_37 -1 known missense c.5231 p.P1744L 0.927 NULL NULL - no_errors PRR14L HGNC ENSG00000183530 19 0 0.00 10 6 37.50 PSG4 0 genome.wustl.edu 37 19 43699178 43699178 + Missense_Mutation SNP G G C TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 19 43699178 43699178 G C SNP PSG4 ENST00000405312 human ensembl 74_37 -1 known missense c.957 p.I319M 0.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG4 HGNC ENSG00000243137 349 0 0.00 272 68 20.00 PSG4 0 genome.wustl.edu 37 19 43699189 43699189 + Missense_Mutation SNP A A C TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 19 43699189 43699189 A C SNP PSG4 ENST00000405312 human ensembl 74_37 -1 known missense c.946 p.Y316D 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG4 HGNC ENSG00000243137 360 0 0.00 286 74 20.56 PTPN13 0 genome.wustl.edu 37 4 87610245 87610245 + Silent SNP C C T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 4 87610245 87610245 C T SNP PTPN13 ENST00000436978 human ensembl 74_37 +1 known silent c.448 p.L150 0.999 pirsf_Tyr_Pase_non-rcpt_typ-13,superfamily_PAZ_dom,smart_KIND pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 50 0 0.00 60 4 6.25 PTPRN 0 genome.wustl.edu 37 2 220162692 220162692 + Missense_Mutation SNP C C T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 2 220162692 220162692 C T SNP PTPRN ENST00000295718 human ensembl 74_37 -1 known missense c.1802 p.R601Q 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN HGNC ENSG00000054356 41 0 0.00 51 8 13.56 PTX3 0 genome.wustl.edu 37 3 157160233 157160233 + Missense_Mutation SNP T T G TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 3 157160233 157160233 T G SNP PTX3 ENST00000295927 human ensembl 74_37 +1 known missense c.611 p.L204R 0.993 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_LamG-like,prints_Pentaxin - no_errors PTX3 HGNC ENSG00000163661 76 0 0.00 35 24 40.68 PYCRL 0 genome.wustl.edu 37 8 144687987 144687987 + Silent SNP G G A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 8 144687987 144687987 G A SNP PYCRL ENST00000220966 human ensembl 74_37 -1 known silent c.744 p.T248 0.617 superfamily_6-PGluconate_DH_C-like,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase superfamily_6-PGluconate_DH_C-like,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase - no_errors PYCRL HGNC ENSG00000104524 54 0 0.00 37 22 37.29 RC3H1 0 genome.wustl.edu 37 1 173934234 173934234 + Silent SNP C C A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 1 173934234 173934234 C A SNP RC3H1 ENST00000258349 human ensembl 74_37 -1 known silent c.1359 p.L453 1.000 NULL pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING - no_errors RC3H1 HGNC ENSG00000135870 46 0 0.00 51 4 7.27 RGAG4 0 genome.wustl.edu 37 X 71350747 71350747 + Missense_Mutation SNP G G A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e X 71350747 71350747 G A SNP RGAG4 ENST00000479991 human ensembl 74_37 -1 known missense c.644 p.A215V 0.859 pfam_Retrotrans_gag_dom pfam_Retrotrans_gag_dom - no_errors RGAG4 HGNC ENSG00000242732 38 0 0.00 60 4 6.25 ROBO3 0 genome.wustl.edu 37 11 124738938 124738938 + Missense_Mutation SNP C C T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 11 124738938 124738938 C T SNP ROBO3 ENST00000397801 human ensembl 74_37 +1 known missense c.401 p.A134V 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO3 HGNC ENSG00000154134 24 0 0.00 20 6 23.08 RPL10 0 genome.wustl.edu 37 X 153627911 153627911 + Missense_Mutation SNP G G A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e X 153627911 153627911 G A SNP RPL10 ENST00000344746 human ensembl 74_37 +1 known missense c.166 p.E56K 1.000 pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,pirsf_Ribosomal_L10e,tigrfam_Ribosomal_L10e pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,pirsf_Ribosomal_L10e,tigrfam_Ribosomal_L10e - no_errors RPL10 HGNC ENSG00000147403 28 0 0.00 23 5 17.86 RPL26P30 0 genome.wustl.edu 37 11 2356846 2356846 + RNA SNP C C T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 11 2356846 2356846 C T SNP RPL26P30 ENST00000602923 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RPL26P30 HGNC ENSG00000236264 59 0 0.00 61 18 22.78 RPSAP58 0 genome.wustl.edu 37 19 24010127 24010127 + Nonsense_Mutation SNP G G A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 19 24010127 24010127 G A SNP RPSAP58 ENST00000354585 human ensembl 74_37 +1 known nonsense c.164 p.W55* 1.000 pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,tigrfam_Ribosomal_S2_euk/arc pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,prints_Ribosomal_S2,tigrfam_Ribosomal_S2_euk/arc - no_errors RPSAP58 HGNC ENSG00000205246 60 0 0.00 35 12 25.53 SALL2 0 genome.wustl.edu 37 14 21992981 21992981 + Missense_Mutation SNP C C T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 14 21992981 21992981 C T SNP SALL2 ENST00000327430 human ensembl 74_37 -1 known missense c.881 p.R294Q 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL2 HGNC ENSG00000165821 27 0 0.00 40 6 13.04 SAMD9 0 genome.wustl.edu 37 7 92734549 92734549 + Silent SNP T T G TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 7 92734549 92734549 T G SNP SAMD9 ENST00000379958 human ensembl 74_37 -1 known silent c.862 p.R288 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_SAM,pfscan_SAM - no_errors SAMD9 HGNC ENSG00000205413 40 0 0.00 18 15 45.45 SARS 0 genome.wustl.edu 37 1 109780381 109780381 + Missense_Mutation SNP G G T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 1 109780381 109780381 G T SNP SARS ENST00000369923 human ensembl 74_37 +1 known missense c.1482 p.K494N 1.000 pirsf_Ser-tRNA-ligase_type_1 pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Ser-tRNA-synth_1_N,superfamily_tRNA-bd_arm,pirsf_Ser-tRNA-ligase_type_1,pfscan_aa-tRNA-synth_II,prints_Ser-tRNA-ligase_type_1,tigrfam_Ser-tRNA-ligase_type_1 - no_errors SARS HGNC ENSG00000031698 59 0 0.00 41 4 8.70 SCAPER 0 genome.wustl.edu 37 15 77064234 77064234 + Missense_Mutation SNP C C A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 15 77064234 77064234 C A SNP SCAPER ENST00000324767 human ensembl 74_37 -1 known missense c.1097 p.R366L 0.000 NULL smart_Znf_U1 - no_errors SCAPER HGNC ENSG00000140386 24 0 0.00 36 2 5.26 SCN5A 0 genome.wustl.edu 37 3 38651390 38651390 + Missense_Mutation SNP T T G TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 3 38651390 38651390 T G SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known missense c.769 p.T257P 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 25 0 0.00 24 11 31.43 SEC14L1 0 genome.wustl.edu 37 17 75190773 75190773 + Missense_Mutation SNP C C G TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 17 75190773 75190773 C G SNP SEC14L1 ENST00000392476 human ensembl 74_37 +1 known missense c.489 p.I163M 0.067 pfam_PRELI/MSF1,pfscan_PRELI/MSF1 pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1 - no_errors SEC14L1 HGNC ENSG00000129657 34 0 0.00 35 2 5.41 SELL 0 genome.wustl.edu 37 1 169677719 169677719 + Missense_Mutation SNP T T G TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 1 169677719 169677719 T G SNP SELL ENST00000236147 human ensembl 74_37 -1 known missense c.350 p.N117T 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pirsf_L-selectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_EG-like_dom,smart_Sushi_SCR_CCP,pirsf_L-selectin,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily - no_errors SELL HGNC ENSG00000188404 56 0 0.00 44 19 30.16 SETX 0 genome.wustl.edu 37 9 135205659 135205659 + Missense_Mutation SNP T T G TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 9 135205659 135205659 T G SNP SETX ENST00000372169 human ensembl 74_37 -1 known missense c.1326 p.E442D 1.000 NULL superfamily_P-loop_NTPase - no_errors SETX HGNC ENSG00000107290 16 0 0.00 19 6 24.00 SI 0 genome.wustl.edu 37 3 164714372 164714372 + Missense_Mutation SNP A A C TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 3 164714372 164714372 A C SNP SI ENST00000264382 human ensembl 74_37 -1 known missense c.4643 p.L1548R 1.000 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 48 0 0.00 39 18 31.58 SKOR1 0 genome.wustl.edu 37 15 68120279 68120279 + Missense_Mutation SNP G G A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 15 68120279 68120279 G A SNP SKOR1 ENST00000380035 human ensembl 74_37 +1 known missense c.2113 p.A705T 0.145 NULL pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like - no_errors SKOR1 HGNC ENSG00000188779 20 0 0.00 8 4 33.33 SLAMF8 0 genome.wustl.edu 37 1 159805039 159805039 + Missense_Mutation SNP G G A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 1 159805039 159805039 G A SNP SLAMF8 ENST00000289707 human ensembl 74_37 +1 known missense c.847 p.D283N 0.571 NULL pfscan_Ig-like_dom - no_errors SLAMF8 HGNC ENSG00000158714 49 0 0.00 46 16 25.81 SLC22A16 0 genome.wustl.edu 37 6 110763546 110763546 + Missense_Mutation SNP C C A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 6 110763546 110763546 C A SNP SLC22A16 ENST00000368919 human ensembl 74_37 -1 known missense c.1084 p.V362F 0.002 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A16 HGNC ENSG00000004809 65 0 0.00 68 5 6.85 SLC27A6 0 genome.wustl.edu 37 5 128326101 128326101 + Missense_Mutation SNP G G A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 5 128326101 128326101 G A SNP SLC27A6 ENST00000262462 human ensembl 74_37 +1 known missense c.913 p.V305M 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A6 HGNC ENSG00000113396 60 0 0.00 58 4 6.45 SLC39A6 0 genome.wustl.edu 37 18 33689576 33689576 + Missense_Mutation SNP C C T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 18 33689576 33689576 C T SNP SLC39A6 ENST00000269187 human ensembl 74_37 -1 known missense c.2248 p.V750M 1.000 NULL pfam_ZIP - no_errors SLC39A6 HGNC ENSG00000141424 26 0 0.00 24 2 7.69 SLIT3 0 genome.wustl.edu 37 5 168199825 168199825 + Missense_Mutation SNP G G A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 5 168199825 168199825 G A SNP SLIT3 ENST00000519560 human ensembl 74_37 -1 known missense c.1420 p.R474C 1.000 pfam_Cys-rich_flank_reg_C,smart_Cys-rich_flank_reg_C pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT3 HGNC ENSG00000184347 147 0 0.00 109 43 28.29 SMAD4 0 genome.wustl.edu 37 18 48603032 48603032 + Nonsense_Mutation SNP C C T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 18 48603032 48603032 C T SNP SMAD4 ENST00000342988 human ensembl 74_37 +1 known nonsense c.1333 p.R445* 1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD4 HGNC ENSG00000141646 72 0 0.00 27 31 53.45 SMC2 0 genome.wustl.edu 37 9 106885419 106885419 + Missense_Mutation SNP G G A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 9 106885419 106885419 G A SNP SMC2 ENST00000286398 human ensembl 74_37 +1 known missense c.2163 p.M721I 1.000 superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC2 HGNC ENSG00000136824 43 0 0.00 16 5 23.81 SMG8 0 genome.wustl.edu 37 17 57288842 57288842 + Missense_Mutation SNP A A C TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 17 57288842 57288842 A C SNP SMG8 ENST00000300917 human ensembl 74_37 +1 known missense c.1430 p.K477T 1.000 pfam_Smg8/Smg9 pfam_Smg8/Smg9 - no_errors SMG8 HGNC ENSG00000167447 42 0 0.00 38 11 22.45 SMPD1 0 genome.wustl.edu 37 11 6412634 6412634 + Silent SNP C C T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 11 6412634 6412634 C T SNP SMPD1 ENST00000342245 human ensembl 74_37 +1 known silent c.339 p.R113 0.241 superfamily_Saposin-like,smart_SaposinB,pirsf_Sphingomy_PDE,pfscan_SaposinB pfam_PEstase_dom,superfamily_Saposin-like,smart_SaposinB,pirsf_Sphingomy_PDE,pfscan_SaposinB - no_errors SMPD1 HGNC ENSG00000166311 10 0 0.00 10 3 23.08 SNRPA1 0 genome.wustl.edu 37 15 101827875 101827875 + Silent SNP C C T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 15 101827875 101827875 C T SNP SNRPA1 ENST00000254193 human ensembl 74_37 -1 known silent c.342 p.S114 0.007 NULL smart_U2A'_phosphoprotein32A_C - no_errors SNRPA1 HGNC ENSG00000131876 48 0 0.00 47 4 7.84 SORCS3 0 genome.wustl.edu 37 10 106937852 106937852 + Missense_Mutation SNP G G A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 10 106937852 106937852 G A SNP SORCS3 ENST00000369701 human ensembl 74_37 +1 known missense c.1930 p.D644N 1.000 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS3 HGNC ENSG00000156395 136 0 0.00 135 26 16.15 SP3 0 genome.wustl.edu 37 2 174820856 174820856 + Missense_Mutation SNP C C G TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 2 174820856 174820856 C G SNP SP3 ENST00000310015 human ensembl 74_37 -1 known missense c.384 p.Q128H 1.000 superfamily_Galactose-bd-like pfam_Znf_C2H2,superfamily_Galactose-bd-like,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP3 HGNC ENSG00000172845 71 0 0.00 49 14 22.22 SPATA31D4 0 genome.wustl.edu 37 9 84547720 84547720 + RNA SNP G G C TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 9 84547720 84547720 G C SNP SPATA31D4 ENST00000341875 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SPATA31D4 HGNC ENSG00000189357 31 0 0.00 26 3 10.34 SPECC1L 0 genome.wustl.edu 37 22 24718716 24718716 + Missense_Mutation SNP G G A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 22 24718716 24718716 G A SNP SPECC1L ENST00000314328 human ensembl 74_37 +1 known missense c.1768 p.V590M 1.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_bHLH_dom,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1L HGNC ENSG00000100014 14 0 0.00 7 6 46.15 SPTA1 0 genome.wustl.edu 37 1 158612245 158612245 + Missense_Mutation SNP G G C TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 1 158612245 158612245 G C SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.4693 p.L1565V 1.000 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 36 0 0.00 20 8 28.57 SPTAN1 0 genome.wustl.edu 37 9 131344063 131344063 + Silent SNP G G A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 9 131344063 131344063 G A SNP SPTAN1 ENST00000358161 human ensembl 74_37 +1 known silent c.1464 p.A488 0.950 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF_hand_dom,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC ENSG00000197694 77 0 0.00 44 21 32.31 STAP1 0 genome.wustl.edu 37 4 68459027 68459027 + Missense_Mutation SNP C C T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 4 68459027 68459027 C T SNP STAP1 ENST00000265404 human ensembl 74_37 +1 known missense c.779 p.T260I 0.999 smart_SH2,pfscan_SH2 pfam_SH2,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_SH2 - no_errors STAP1 HGNC ENSG00000035720 95 0 0.00 47 35 42.68 SVEP1 0 genome.wustl.edu 37 9 113168502 113168502 + Silent SNP C C T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 9 113168502 113168502 C T SNP SVEP1 ENST00000401783 human ensembl 74_37 -1 known silent c.9378 p.P3126 0.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 74 0 0.00 47 23 32.86 SYNE1 0 genome.wustl.edu 37 6 152652864 152652864 + Missense_Mutation SNP C C G TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 6 152652864 152652864 C G SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.12956 p.S4319T 0.230 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 54 0 0.00 46 21 31.34 TBX2 0 genome.wustl.edu 37 17 59485501 59485501 + Silent SNP C C T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 17 59485501 59485501 C T SNP TBX2 ENST00000240328 human ensembl 74_37 +1 novel silent c.1773 p.P591 0.720 NULL pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box,prints_TF_Brachyury - no_errors TBX2 HGNC ENSG00000121068 18 0 0.00 14 6 30.00 TBX22 0 genome.wustl.edu 37 X 79279597 79279597 + Missense_Mutation SNP G G T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e X 79279597 79279597 G T SNP TBX22 ENST00000373294 human ensembl 74_37 +1 known missense c.392 p.G131V 0.998 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX22 HGNC ENSG00000122145 41 0 0.00 26 29 52.73 TDRKH 0 genome.wustl.edu 37 1 151749017 151749017 + Silent SNP A A G TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 1 151749017 151749017 A G SNP TDRKH ENST00000368822 human ensembl 74_37 -1 known silent c.942 p.A314 0.848 pfam_Tudor pfam_KH_dom_type_1,pfam_Tudor,smart_KH_dom,smart_Tudor,pfscan_Tudor,pfscan_KH_dom_type_1 - no_errors TDRKH HGNC ENSG00000182134 27 0 0.00 35 12 25.53 TENM3 0 genome.wustl.edu 37 4 183651467 183651467 + Silent SNP C C T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 4 183651467 183651467 C T SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known silent c.2700 p.D900 0.966 superfamily_CarboxyPept-like_regulatory pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 38 0 0.00 31 18 36.73 TGFB1I1 0 genome.wustl.edu 37 16 31485023 31485023 + Missense_Mutation SNP A A G TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 16 31485023 31485023 A G SNP TGFB1I1 ENST00000567066 human ensembl 74_37 +1 known missense c.34 p.R12G 0.912 NULL NULL - no_errors TGFB1I1 HGNC ENSG00000140682 33 0 0.00 27 13 32.50 TLE4 0 genome.wustl.edu 37 9 82267549 82267549 + Silent SNP C C T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 9 82267549 82267549 C T SNP TLE4 ENST00000376520 human ensembl 74_37 +1 known silent c.432 p.L144 0.988 NULL pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE4 HGNC ENSG00000106829 20 0 0.00 17 4 19.05 TM4SF20 0 genome.wustl.edu 37 2 228243936 228243936 + Missense_Mutation SNP C C A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 2 228243936 228243936 C A SNP TM4SF20 ENST00000304568 human ensembl 74_37 -1 known missense c.49 p.V17F 0.657 pfam_L6_membrane pfam_L6_membrane - no_errors TM4SF20 HGNC ENSG00000168955 51 0 0.00 60 4 6.25 TMEM8B 0 genome.wustl.edu 37 9 35846965 35846965 + Silent SNP C C T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 9 35846965 35846965 C T SNP TMEM8B ENST00000377988 human ensembl 74_37 +1 known silent c.792 p.V264 1.000 pfam_DUF3522 pfam_DUF3522 - no_errors TMEM8B HGNC ENSG00000137103 66 0 0.00 87 16 15.53 TMTC1 0 genome.wustl.edu 37 12 29812910 29812910 + Missense_Mutation SNP C C A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 12 29812910 29812910 C A SNP TMTC1 ENST00000381224 human ensembl 74_37 -1 known missense c.703 p.V235F 0.003 NULL pfam_DUF1736,pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC1 HGNC ENSG00000133687 29 0 0.00 27 9 25.00 TP53 0 genome.wustl.edu 37 17 7577539 7577539 + Missense_Mutation SNP G G A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 17 7577539 7577539 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.742 p.R248W 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 54 0 0.00 24 27 52.94 TRIM2 0 genome.wustl.edu 37 4 154215568 154215568 + Missense_Mutation SNP G G T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 4 154215568 154215568 G T SNP TRIM2 ENST00000338700 human ensembl 74_37 +1 known missense c.717 p.Q239H 1.000 smart_Bbox_C pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM2 HGNC ENSG00000109654 42 0 0.00 36 2 5.26 TRPC6 0 genome.wustl.edu 37 11 101374848 101374848 + Silent SNP A A G TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 11 101374848 101374848 A G SNP TRPC6 ENST00000344327 human ensembl 74_37 -1 known silent c.852 p.A284 0.914 pfam_TRP_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC6 HGNC ENSG00000137672 49 0 0.00 44 17 27.87 TTC39A 0 genome.wustl.edu 37 1 51755785 51755785 + Missense_Mutation SNP T T G TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 1 51755785 51755785 T G SNP TTC39A ENST00000447632 human ensembl 74_37 -1 known missense c.1493 p.E498A 1.000 pfam_OMP_IML2_mit/TPR_39 pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat - no_errors TTC39A HGNC ENSG00000085831 20 0 0.00 20 7 25.93 TTN 0 genome.wustl.edu 37 2 179605401 179605401 + Missense_Mutation SNP T T C TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 2 179605401 179605401 T C SNP TTN ENST00000342175 human ensembl 74_37 -1 known missense c.12046 p.S4016G 0.014 superfamily_RNaseH-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 44 0 0.00 41 12 22.64 TTPA 0 genome.wustl.edu 37 8 63976767 63976767 + Missense_Mutation SNP G G A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 8 63976767 63976767 G A SNP TTPA ENST00000260116 human ensembl 74_37 -1 known missense c.661 p.R221W 0.997 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran - no_errors TTPA HGNC ENSG00000137561 56 0 0.00 32 6 15.79 TUBGCP3 0 genome.wustl.edu 37 13 113140382 113140382 + Silent SNP G G A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 13 113140382 113140382 G A SNP TUBGCP3 ENST00000261965 human ensembl 74_37 -1 known silent c.2649 p.N883 0.294 NULL pfam_TUBGCP - no_errors TUBGCP3 HGNC ENSG00000126216 40 0 0.00 19 17 47.22 TUBGCP4 0 genome.wustl.edu 37 15 43678414 43678414 + Silent SNP G G A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 15 43678414 43678414 G A SNP TUBGCP4 ENST00000260383 human ensembl 74_37 +1 known silent c.900 p.L300 1.000 pfam_TUBGCP pfam_TUBGCP - no_errors TUBGCP4 HGNC ENSG00000137822 37 0 0.00 30 6 16.67 UQCRFS1 0 genome.wustl.edu 37 19 29698831 29698831 + Missense_Mutation SNP G G A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 19 29698831 29698831 G A SNP UQCRFS1 ENST00000304863 human ensembl 74_37 -1 known missense c.449 p.A150V 1.000 superfamily_Rieske_2Fe-2S,tigrfam_Ubiquinol_cyt_c_Rdtase_Fe-S-su pfam_Ubiqinol_cyt_c_Rdtase_N,pfam_Ubiquinol_cyt_Rdtase_TM,pfam_Rieske_2Fe-2S,superfamily_Rieske_2Fe-2S,superfamily_Globular_prot_asu/bsu,prints_Rieske_Fe-S_prot_C,tigrfam_Ubiquinol_cyt_c_Rdtase_Fe-S-su - no_errors UQCRFS1 HGNC ENSG00000169021 63 0 0.00 58 19 24.68 USP38 0 genome.wustl.edu 37 4 144134913 144134913 + Missense_Mutation SNP G G A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 4 144134913 144134913 G A SNP USP38 ENST00000307017 human ensembl 74_37 +1 known missense c.1784 p.R595Q 0.089 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP38 HGNC ENSG00000170185 20 0 0.00 14 11 44.00 VIM-AS1 0 genome.wustl.edu 37 10 17256594 17256594 + RNA SNP A A G TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 10 17256594 17256594 A G SNP VIM-AS1 ENST00000437232 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors VIM-AS1 HGNC ENSG00000229124 19 0 0.00 22 10 31.25 ZC3H7A 0 genome.wustl.edu 37 16 11876195 11876195 + Missense_Mutation SNP C C T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 16 11876195 11876195 C T SNP ZC3H7A ENST00000355758 human ensembl 74_37 -1 known missense c.16 p.E6K 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H7A HGNC ENSG00000122299 39 0 0.00 54 7 11.48 ZCCHC12 0 genome.wustl.edu 37 X 117959408 117959408 + Silent SNP A A G TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e X 117959408 117959408 A G SNP ZCCHC12 ENST00000310164 human ensembl 74_37 +1 known silent c.201 p.Q67 0.999 NULL superfamily_Znf_CCHC - no_errors ZCCHC12 HGNC ENSG00000174460 14 0 0.00 2 12 85.71 ZIC1 0 genome.wustl.edu 37 3 147128873 147128873 + Missense_Mutation SNP C C T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 3 147128873 147128873 C T SNP ZIC1 ENST00000282928 human ensembl 74_37 +1 known missense c.974 p.T325M 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC1 HGNC ENSG00000152977 33 0 0.00 30 15 33.33 ZNF208 0 genome.wustl.edu 37 19 22155194 22155194 + Missense_Mutation SNP T T A TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 19 22155194 22155194 T A SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel missense c.2642 p.K881I 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF208 HGNC ENSG00000160321 27 0 0.00 13 10 43.48 ZNF347 0 genome.wustl.edu 37 19 53644629 53644629 + Silent SNP A A C TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 19 53644629 53644629 A C SNP ZNF347 ENST00000452676 human ensembl 74_37 -1 known silent c.1455 p.P485 0.027 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 ZNF347 HGNC ENSG00000197937 68 0 0.00 76 27 26.21 ZNF354A 0 genome.wustl.edu 37 5 178140243 178140243 + Missense_Mutation SNP T T G TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 5 178140243 178140243 T G SNP ZNF354A ENST00000335815 human ensembl 74_37 -1 known missense c.636 p.K212N 1.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF354A HGNC ENSG00000169131 149 0 0.00 136 60 30.61 ZNF491 0 genome.wustl.edu 37 19 11917123 11917123 + Nonsense_Mutation SNP C C T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 19 11917123 11917123 C T SNP ZNF491 ENST00000323169 human ensembl 74_37 +1 known nonsense c.355 p.R119* 0.008 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF491 HGNC ENSG00000177599 34 0 0.00 20 30 60.00 ZNF559 0 genome.wustl.edu 37 19 9449168 9449168 + Splice_Site SNP A A G TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 19 9449168 9449168 A G SNP ZNF559 ENST00000393883 human ensembl 74_37 +1 known splice_site c.1-2 e1-2 0.001 - - - no_errors ZNF559 HGNC ENSG00000188321 49 0 0.00 33 24 42.11 ZNF600 0 genome.wustl.edu 37 19 53270131 53270131 + Missense_Mutation SNP C C T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 19 53270131 53270131 C T SNP ZNF600 ENST00000338230 human ensembl 74_37 -1 known missense c.878 p.R293H 0.981 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF600 HGNC ENSG00000189190 73 0 0.00 75 36 32.43 ZNF677 0 genome.wustl.edu 37 19 53741076 53741076 + Missense_Mutation SNP G G T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 19 53741076 53741076 G T SNP ZNF677 ENST00000333952 human ensembl 74_37 -1 known missense c.904 p.Q302K 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 ZNF677 HGNC ENSG00000197928 47 0 0.00 33 13 28.26 ZNF763 0 genome.wustl.edu 37 19 12089019 12089019 + Missense_Mutation SNP T T G TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 19 12089019 12089019 T G SNP ZNF763 ENST00000538752 human ensembl 74_37 +1 known missense c.340 p.F114V 0.358 NULL pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF763 HGNC ENSG00000197054 40 0 0.00 32 34 51.52 ZNF93 0 genome.wustl.edu 37 19 20045515 20045515 + Missense_Mutation SNP A A C TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 19 20045515 20045515 A C SNP ZNF93 ENST00000343769 human ensembl 74_37 +1 known missense c.1751 p.K584T 0.998 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 ZNF93 HGNC ENSG00000184635 76 0 0.00 21 23 52.27 ZSWIM3 0 genome.wustl.edu 37 20 44505670 44505670 + Missense_Mutation SNP C C T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 5f717602-cfc7-4f44-993c-c6720e73bd58 82845513-d7b1-4105-9755-79715706372e 20 44505670 44505670 C T SNP ZSWIM3 ENST00000255152 human ensembl 74_37 +1 known missense c.473 p.S158F 0.011 NULL pfam_Znf_SWIM,pfam_MULE_transposase_dom,pfam_Transposase,smart_Znf_PMZ,pfscan_Znf_SWIM - no_errors ZSWIM3 HGNC ENSG00000132801 20 0 0.00 30 5 14.29