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 ACBD5 0 genome.wustl.edu 37 10 27494141 27494141 + Nonsense_Mutation SNP G G A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 10 27494141 27494141 G A SNP ACBD5 ENST00000375888 human ensembl 74_37 -1 known nonsense c.1468 p.Q490* 0.002 pirsf_M-assoc_diazepam-bd-inh pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,pirsf_M-assoc_diazepam-bd-inh,prints_Acyl-CoA-binding_protein - no_errors ACBD5 HGNC ENSG00000107897 tier1 - - 117 0 0.00 98 22 18.33 ACHE 0 genome.wustl.edu 37 7 100490027 100490027 + Missense_Mutation SNP C C T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 7 100490027 100490027 C T SNP ACHE ENST00000302913 human ensembl 74_37 -1 known missense c.1481 p.R494Q 0.279 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors ACHE HGNC ENSG00000087085 tier1 - - 93 0 0.00 46 24 34.29 ACSM2A 0 genome.wustl.edu 37 16 20491929 20491929 + Missense_Mutation SNP G G T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 16 20491929 20491929 G T SNP ACSM2A ENST00000219054 human ensembl 74_37 +1 known missense c.1316 p.G439V 0.986 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM2A HGNC ENSG00000183747 tier1 - - 172 0 0.00 141 37 20.79 ACTRT2 0 genome.wustl.edu 37 1 2938272 2938272 + Missense_Mutation SNP G G C TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 1 2938272 2938272 G C SNP ACTRT2 ENST00000378404 human ensembl 74_37 +1 known missense c.22 p.D8H 0.937 pfam_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTRT2 HGNC ENSG00000169717 136 0 0.00 60 4 6.25 ADAM29 0 genome.wustl.edu 37 4 175898646 175898646 + Missense_Mutation SNP G G T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 4 175898646 175898646 G T SNP ADAM29 ENST00000359240 human ensembl 74_37 +1 known missense c.1970 p.G657V 0.442 NULL pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM29 HGNC ENSG00000168594 tier1 - - 61 0 0.00 31 10 24.39 AK2 0 genome.wustl.edu 37 1 33476353 33476353 + RNA SNP C C T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 1 33476353 33476353 C T SNP AK2 ENST00000491241 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors AK2 HGNC ENSG00000004455 tier1 rs66599471 - 39 0 0.00 30 9 23.08 ANKRD11 0 genome.wustl.edu 37 16 89350504 89350504 + Missense_Mutation SNP C C T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 16 89350504 89350504 C T SNP ANKRD11 ENST00000301030 human ensembl 74_37 -1 known missense c.2446 p.E816K 0.983 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 tier1 - - 23 0 0.00 21 15 41.67 ARID1A 0 genome.wustl.edu 37 1 27105808 27105809 + Frame_Shift_Del DEL AG AG - TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 1 27105808 27105809 AG - DEL ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_del c.5419_5420 p.S1807fs 1.000:1.000 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 ARID1A HGNC ENSG00000117713 tier1 72 0 0.00 47 22 31.88 ATAD3B 0 genome.wustl.edu 37 1 1420548 1420548 + Silent SNP C C A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 1 1420548 1420548 C A SNP ATAD3B ENST00000308647 human ensembl 74_37 +1 known silent c.903 p.I301 0.996 NULL pfam_DUF3523,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors ATAD3B HGNC ENSG00000160072 tier1 - - 50 0 0.00 27 4 12.90 AXL 0 genome.wustl.edu 37 19 41758857 41758857 + Silent SNP C C G TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 19 41758857 41758857 C G SNP AXL ENST00000301178 human ensembl 74_37 +1 known silent c.1911 p.L637 0.159 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_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AXL HGNC ENSG00000167601 tier1 - - 129 0 0.00 116 13 10.00 BIRC6 0 genome.wustl.edu 37 2 32750043 32750043 + Silent SNP G G A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 2 32750043 32750043 G A SNP BIRC6 ENST00000421745 human ensembl 74_37 +1 known silent c.11712 p.A3904 0.997 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 tier1 - - 8 0 0.00 7 7 50.00 CDKN2A 0 genome.wustl.edu 37 9 21974679 21974679 + Nonsense_Mutation SNP G G A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 9 21974679 21974679 G A SNP CDKN2A ENST00000446177 human ensembl 74_37 -1 known nonsense c.148 p.Q50* 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors CDKN2A HGNC ENSG00000147889 tier1 - - 336 0 0.00 195 111 36.27 CLIP2 0 genome.wustl.edu 37 7 73768230 73768230 + Silent SNP C C T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 7 73768230 73768230 C T SNP CLIP2 ENST00000223398 human ensembl 74_37 +1 known silent c.699 p.G233 0.040 pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain - no_errors CLIP2 HGNC ENSG00000106665 tier1 - - 205 0 0.00 188 19 9.18 CNTLN 0 genome.wustl.edu 37 9 17462981 17462983 + In_Frame_Del DEL AAG AAG - TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 9 17462981 17462983 AAG - DEL CNTLN ENST00000380647 human ensembl 74_37 +1 known in_frame_del c.3374_3376 p.E1127in_frame_del 1.000:1.000:1.000 NULL superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 tier1 60 0 0.00 57 10 14.93 CNTNAP3B 0 genome.wustl.edu 37 9 43844265 43844265 + Frame_Shift_Del DEL G G - TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 9 43844265 43844265 G - DEL CNTNAP3B ENST00000377564 human ensembl 74_37 +1 known frame_shift_del c.1599 p.L534fs 0.000 superfamily_ConA-like_lec_gl_sf,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 CNTNAP3B HGNC ENSG00000154529 tier1 23 0 0.00 15 4 21.05 DNAH7 0 genome.wustl.edu 37 2 196681514 196681514 + Missense_Mutation SNP C C T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 2 196681514 196681514 C T SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known missense c.9599 p.R3200H 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 tier1 - - 83 0 0.00 89 7 7.29 DOK4 0 genome.wustl.edu 37 16 57509498 57509498 + Missense_Mutation SNP C C T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 16 57509498 57509498 C T SNP DOK4 ENST00000340099 human ensembl 74_37 -1 known missense c.209 p.R70Q 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors DOK4 HGNC ENSG00000125170 26 0 0.00 18 3 14.29 DSC2 0 genome.wustl.edu 37 18 28650780 28650780 + Missense_Mutation SNP G G A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 18 28650780 28650780 G A SNP DSC2 ENST00000280904 human ensembl 74_37 -1 known missense c.2162 p.T721M 0.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin,prints_Desmosomal_cadherin - no_errors DSC2 HGNC ENSG00000134755 tier1 - - 84 0 0.00 52 24 31.58 DSP 0 genome.wustl.edu 37 6 7569519 7569519 + Missense_Mutation SNP C C T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 6 7569519 7569519 C T SNP DSP ENST00000379802 human ensembl 74_37 +1 known missense c.1520 p.S507F 1.000 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 tier1 - - 146 0 0.00 125 22 14.97 ECSIT 0 genome.wustl.edu 37 19 11617222 11617222 + Missense_Mutation SNP G G C TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 19 11617222 11617222 G C SNP ECSIT ENST00000270517 human ensembl 74_37 -1 known missense c.1073 p.A358G 1.000 NULL pfam_ECSIT - no_errors ECSIT HGNC ENSG00000130159 tier1 - - 154 0 0.00 84 19 18.45 ENSG00000271452 0 genome.wustl.edu 37 2 75897436 75897436 + RNA SNP G G A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 2 75897436 75897436 G A SNP ENSG00000271452 ENST00000604219 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-342K6.2 Clone_based_vega_gene ENSG00000271452 tier1 - - 41 0 0.00 42 15 26.32 ERC1 0 genome.wustl.edu 37 12 1221445 1221445 + Missense_Mutation SNP C C T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 12 1221445 1221445 C T SNP ERC1 ENST00000360905 human ensembl 74_37 +1 known missense c.1382 p.A461V 1.000 pfam_CAZ_cplx_RIM-bd_prot pfam_CAZ_cplx_RIM-bd_prot,pfam_Rab-bd_FIP-RBD,superfamily_Prefoldin - no_errors ERC1 HGNC ENSG00000082805 tier1 - - 139 0 0.00 141 41 22.53 EXOC6B 0 genome.wustl.edu 37 2 72740271 72740271 + Missense_Mutation SNP C C G TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 2 72740271 72740271 C G SNP EXOC6B ENST00000272427 human ensembl 74_37 -1 known missense c.1157 p.R386P 1.000 pirsf_Sec15 pfam_Sec15,pirsf_Sec15 - no_errors EXOC6B HGNC ENSG00000144036 28 0 0.00 50 6 10.71 FAM188A 0 genome.wustl.edu 37 10 15875637 15875637 + Missense_Mutation SNP G G A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 10 15875637 15875637 G A SNP FAM188A ENST00000277632 human ensembl 74_37 -1 known missense c.722 p.S241L 1.000 NULL NULL - no_errors FAM188A HGNC ENSG00000148481 tier1 - - 70 0 0.00 66 6 8.33 FARP1 0 genome.wustl.edu 37 13 99083428 99083428 + Missense_Mutation SNP C C A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 13 99083428 99083428 C A SNP FARP1 ENST00000376586 human ensembl 74_37 +1 known missense c.2037 p.N679K 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors FARP1 HGNC ENSG00000152767 20 0 0.00 21 3 12.50 FLJ20444 0 genome.wustl.edu 37 9 66513785 66513785 + RNA SNP C C T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 9 66513785 66513785 C T SNP FLJ20444 ENST00000586625 human ensembl 74_37 -1 known rna NULL NULL 0.996 - - - no_errors RP11-262H14.3 Clone_based_vega_gene ENSG00000234665 tier1 - - 19 0 0.00 14 5 26.32 GFER 0 genome.wustl.edu 37 16 2034718 2034718 + Missense_Mutation SNP A A G TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 16 2034718 2034718 A G SNP GFER ENST00000567719 human ensembl 74_37 +1 putative missense c.4 p.N2D 0.036 NULL pfam_ERV/ALR_sulphydryl_oxidase,superfamily_ERV/ALR_sulphydryl_oxidase - no_errors GFER HGNC ENSG00000127554 tier1 - - 102 0 0.00 61 13 17.57 GOLGA8EP 0 genome.wustl.edu 37 15 23445373 23445373 + RNA SNP G G A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 15 23445373 23445373 G A SNP GOLGA8EP ENST00000526079 human ensembl 74_37 +1 known rna NULL NULL 0.230 - - - no_errors GOLGA8EP HGNC ENSG00000175676 tier1 - - 58 0 0.00 39 8 17.02 GPR45 0 genome.wustl.edu 37 2 105858679 105858679 + Missense_Mutation SNP G G A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 2 105858679 105858679 G A SNP GPR45 ENST00000258456 human ensembl 74_37 +1 known missense c.364 p.V122M 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR45 HGNC ENSG00000135973 tier1 - - 100 0 0.00 76 49 39.20 GSE1 0 genome.wustl.edu 37 16 85696619 85696619 + Missense_Mutation SNP G G A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 16 85696619 85696619 G A SNP GSE1 ENST00000253458 human ensembl 74_37 +1 known missense c.2293 p.E765K 1.000 pfam_GSE-like pfam_GSE-like - no_errors GSE1 HGNC ENSG00000131149 tier1 - - 100 0 0.00 82 9 9.89 HIC1 0 genome.wustl.edu 37 17 1961553 1961553 + Silent SNP G G A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 17 1961553 1961553 G A SNP HIC1 ENST00000322941 human ensembl 74_37 +1 known silent c.1626 p.K542 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors HIC1 HGNC ENSG00000177374 tier1 - - 43 0 0.00 29 6 17.14 HIC1 0 genome.wustl.edu 37 17 1961558 1961558 + Missense_Mutation SNP T T G TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 17 1961558 1961558 T G SNP HIC1 ENST00000322941 human ensembl 74_37 +1 known missense c.1631 p.F544C 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors HIC1 HGNC ENSG00000177374 41 0 0.00 29 4 12.12 HIC1 0 genome.wustl.edu 37 17 1961606 1961606 + Missense_Mutation SNP T T G TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 17 1961606 1961606 T G SNP HIC1 ENST00000322941 human ensembl 74_37 +1 known missense c.1679 p.L560R 1.000 pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors HIC1 HGNC ENSG00000177374 39 0 0.00 22 2 8.33 HKDC1 0 genome.wustl.edu 37 10 70992788 70992788 + Missense_Mutation SNP G G A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 10 70992788 70992788 G A SNP HKDC1 ENST00000354624 human ensembl 74_37 +1 known missense c.394 p.D132N 1.000 pfam_Hexokinase_N pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HKDC1 HGNC ENSG00000156510 tier1 - - 111 0 0.00 73 21 22.34 HTR1A 0 genome.wustl.edu 37 5 63256685 63256685 + Missense_Mutation SNP C C T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 5 63256685 63256685 C T SNP HTR1A ENST00000323865 human ensembl 74_37 -1 known missense c.862 p.A288T 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt - no_errors HTR1A HGNC ENSG00000178394 tier1 - - 60 0 0.00 48 7 12.73 ITGA9 0 genome.wustl.edu 37 3 37695243 37695243 + Silent SNP C C G TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 3 37695243 37695243 C G SNP ITGA9 ENST00000264741 human ensembl 74_37 +1 known silent c.1878 p.A626 0.024 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA9 HGNC ENSG00000144668 tier1 - - 92 0 0.00 108 7 6.09 JMJD1C 0 genome.wustl.edu 37 10 64967264 64967264 + Missense_Mutation SNP T T C TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 10 64967264 64967264 T C SNP JMJD1C ENST00000399262 human ensembl 74_37 -1 known missense c.4165 p.N1389D 0.995 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD1C HGNC ENSG00000171988 tier1 - - 120 0 0.00 166 14 7.78 KIF21B 0 genome.wustl.edu 37 1 200959739 200959739 + Missense_Mutation SNP C C A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 1 200959739 200959739 C A SNP KIF21B ENST00000422435 human ensembl 74_37 -1 known missense c.2800 p.V934F 0.840 NULL pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21B HGNC ENSG00000116852 tier1 - - 82 0 0.00 58 12 17.14 KIF4B 0 genome.wustl.edu 37 5 154395601 154395601 + Missense_Mutation SNP C C T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 5 154395601 154395601 C T SNP KIF4B ENST00000435029 human ensembl 74_37 +1 known missense c.2182 p.R728W 0.973 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 tier1 - - 61 0 0.00 43 8 15.69 KLF3 0 genome.wustl.edu 37 4 38690456 38690456 + Missense_Mutation SNP C C T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 4 38690456 38690456 C T SNP KLF3 ENST00000261438 human ensembl 74_37 +1 known missense c.308 p.P103L 0.994 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF3 HGNC ENSG00000109787 tier1 - - 126 0 0.00 90 18 16.67 KRT7 0 genome.wustl.edu 37 12 52629105 52629105 + Missense_Mutation SNP C C T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 12 52629105 52629105 C T SNP KRT7 ENST00000331817 human ensembl 74_37 +1 known missense c.491 p.A164V 0.788 pfam_IF pfam_IF,superfamily_Prefoldin,superfamily_Chorismate_mutase_type_II,prints_Keratin_II - no_errors KRT7 HGNC ENSG00000135480 tier1 - - 93 0 0.00 78 10 11.36 LMBRD1 0 genome.wustl.edu 37 6 70410688 70410688 + Missense_Mutation SNP C C T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 6 70410688 70410688 C T SNP LMBRD1 ENST00000370577 human ensembl 74_37 -1 known missense c.1157 p.R386Q 1.000 NULL pfam_LMBR1-like_membr_prot - no_errors LMBRD1 HGNC ENSG00000168216 tier1 - - 17 0 0.00 20 6 23.08 LPAL2 0 genome.wustl.edu 37 6 160903753 160903753 + RNA SNP G G T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 6 160903753 160903753 G T SNP LPAL2 ENST00000335388 human ensembl 74_37 -1 known rna NULL NULL 0.061 - - - no_errors LPAL2 HGNC ENSG00000213071 tier1 - - 358 0 0.00 214 87 28.90 LPAR5 0 genome.wustl.edu 37 12 6730347 6730347 + Missense_Mutation SNP C C T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 12 6730347 6730347 C T SNP LPAR5 ENST00000329858 human ensembl 74_37 -1 known missense c.68 p.R23H 0.159 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors LPAR5 HGNC ENSG00000184574 tier1 - - 30 0 0.00 23 6 20.69 LRP1B 0 genome.wustl.edu 37 2 141298575 141298575 + Missense_Mutation SNP C C G TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 2 141298575 141298575 C G SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.7480 p.D2494H 1.000 smart_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,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 LRP1B HGNC ENSG00000168702 tier1 - - 117 0 0.00 88 9 9.28 LRRTM3 0 genome.wustl.edu 37 10 68687575 68687575 + Missense_Mutation SNP T T G TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 10 68687575 68687575 T G SNP LRRTM3 ENST00000361320 human ensembl 74_37 +1 known missense c.901 p.W301G 1.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM3 HGNC ENSG00000198739 tier1 - - 146 0 0.00 144 31 17.71 MCAM 0 genome.wustl.edu 37 11 119182977 119182977 + Missense_Mutation SNP G G C TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 11 119182977 119182977 G C SNP MCAM ENST00000264036 human ensembl 74_37 -1 known missense c.1023 p.N341K 1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MCAM HGNC ENSG00000076706 tier1 - - 155 0 0.00 143 17 10.62 MEF2D 0 genome.wustl.edu 37 1 156446840 156446840 + Silent SNP G G A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 1 156446840 156446840 G A SNP MEF2D ENST00000348159 human ensembl 74_37 -1 known silent c.819 p.I273 1.000 NULL pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox - no_errors MEF2D HGNC ENSG00000116604 tier1 - - 155 0 0.00 114 25 17.99 MUC16 0 genome.wustl.edu 37 19 9073400 9073400 + Silent SNP C C T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 19 9073400 9073400 C T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.14046 p.Q4682 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 207 0 0.00 145 18 11.04 MUSK 0 genome.wustl.edu 37 9 113530150 113530150 + Missense_Mutation SNP T T A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 9 113530150 113530150 T A SNP MUSK ENST00000374448 human ensembl 74_37 +1 known missense c.971 p.V324E 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,pfscan_Frizzled_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Frizzled_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MUSK HGNC ENSG00000030304 tier1 - - 109 0 0.00 101 25 19.23 NEK9 0 genome.wustl.edu 37 14 75574178 75574178 + Missense_Mutation SNP C C T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 14 75574178 75574178 C T SNP NEK9 ENST00000238616 human ensembl 74_37 -1 known missense c.1195 p.G399S 1.000 superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Prot_kinase_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_RCC1/BLIP-II,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK9 HGNC ENSG00000119638 tier1 - - 55 0 0.00 27 9 25.00 NFE2L1 0 genome.wustl.edu 37 17 46133882 46133882 + Silent SNP C C T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 17 46133882 46133882 C T SNP NFE2L1 ENST00000362042 human ensembl 74_37 +1 known silent c.645 p.T215 1.000 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2L1 HGNC ENSG00000082641 tier1 - - 255 0 0.00 153 83 35.17 NHS 0 genome.wustl.edu 37 X 17743694 17743694 + Missense_Mutation SNP G G A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 X 17743694 17743694 G A SNP NHS ENST00000380060 human ensembl 74_37 +1 known missense c.1405 p.G469S 0.999 NULL NULL - no_errors NHS HGNC ENSG00000188158 tier1 - - 118 0 0.00 117 8 6.40 NOLC1 0 genome.wustl.edu 37 10 103917849 103917849 + Missense_Mutation SNP A A C TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 10 103917849 103917849 A C SNP NOLC1 ENST00000405356 human ensembl 74_37 +1 known missense c.485 p.K162T 1.000 NULL pfam_SRP40_C,pfscan_LisH_dimerisation - no_errors NOLC1 HGNC ENSG00000166197 tier1 - - 112 0 0.00 64 6 8.57 NPIPA1 0 genome.wustl.edu 37 16 15023266 15023266 + RNA SNP C C G TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 16 15023266 15023266 C G SNP NPIPA1 ENST00000472413 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors NPIPA1 HGNC ENSG00000183426 tier1 - - 73 0 0.00 34 4 10.53 NT5C1B 0 genome.wustl.edu 37 2 18767572 18767572 + Missense_Mutation SNP G G T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 2 18767572 18767572 G T SNP NT5C1B ENST00000359846 human ensembl 74_37 -1 known missense c.386 p.S129Y 0.062 NULL pfam_5-nucleotidase - no_errors NT5C1B HGNC ENSG00000185013 tier1 - - 73 0 0.00 95 9 8.65 OBSCN 0 genome.wustl.edu 37 1 228437821 228437821 + Nonsense_Mutation SNP C C T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 1 228437821 228437821 C T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known nonsense c.4189 p.R1397* 0.046 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 tier1 - - 173 0 0.00 154 22 12.50 OR10S1 0 genome.wustl.edu 37 11 123847795 123847795 + Missense_Mutation SNP C C A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 11 123847795 123847795 C A SNP OR10S1 ENST00000531945 human ensembl 74_37 -1 known missense c.604 p.A202S 0.994 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10S1 HGNC ENSG00000196248 tier1 - - 86 0 0.00 73 6 7.59 OR10X1 0 genome.wustl.edu 37 1 158549358 158549358 + Missense_Mutation SNP G G A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 1 158549358 158549358 G A SNP OR10X1 ENST00000368150 human ensembl 74_37 -1 known missense c.332 p.T111I 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10X1 HGNC ENSG00000186400 tier1 - - 64 0 0.00 69 8 10.39 OR5D13 0 genome.wustl.edu 37 11 55541233 55541233 + Missense_Mutation SNP G G T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 11 55541233 55541233 G T SNP OR5D13 ENST00000361760 human ensembl 74_37 +1 known missense c.320 p.C107F 0.007 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 OR5D13 HGNC ENSG00000198877 tier1 - - 158 0 0.00 145 45 23.68 OR8H1 0 genome.wustl.edu 37 11 56058019 56058019 + Missense_Mutation SNP G G A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 11 56058019 56058019 G A SNP OR8H1 ENST00000313022 human ensembl 74_37 -1 known missense c.520 p.R174C 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 OR8H1 HGNC ENSG00000181693 tier1 - - 99 0 0.00 58 23 28.40 OR9A3P 0 genome.wustl.edu 37 7 141563288 141563288 + RNA SNP G G T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 7 141563288 141563288 G T SNP OR9A3P ENST00000482472 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors OR9A3P HGNC ENSG00000240031 tier1 - - 72 0 0.00 62 11 15.07 PAPPA2 0 genome.wustl.edu 37 1 176709278 176709278 + Missense_Mutation SNP C C T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 1 176709278 176709278 C T SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known missense c.4097 p.S1366L 0.992 NULL pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 tier1 - - 65 0 0.00 74 15 16.85 PCDHB5 0 genome.wustl.edu 37 5 140516509 140516509 + Missense_Mutation SNP G G A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 5 140516509 140516509 G A SNP PCDHB5 ENST00000231134 human ensembl 74_37 +1 known missense c.1493 p.R498H 0.003 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB5 HGNC ENSG00000113209 tier1 - - 297 0 0.00 232 34 12.78 PCDHGA11 0 genome.wustl.edu 37 5 140801789 140801789 + Missense_Mutation SNP C C T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 5 140801789 140801789 C T SNP PCDHGA11 ENST00000398587 human ensembl 74_37 +1 known missense c.995 p.T332M 0.017 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA11 HGNC ENSG00000253873 tier1 - - 93 0 0.00 74 14 15.91 PCDHGA2 0 genome.wustl.edu 37 5 140718933 140718933 + Missense_Mutation SNP G G T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 5 140718933 140718933 G T SNP PCDHGA2 ENST00000394576 human ensembl 74_37 +1 known missense c.395 p.R132L 0.987 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA2 HGNC ENSG00000081853 tier1 - - 137 0 0.00 90 6 6.25 PDCD2 0 genome.wustl.edu 37 6 170893419 170893419 + Missense_Mutation SNP C C T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 6 170893419 170893419 C T SNP PDCD2 ENST00000541970 human ensembl 74_37 -1 known missense c.251 p.C84Y 1.000 NULL pfam_PDCD2_C,pfam_Znf_MYND,pfscan_Znf_MYND - no_errors PDCD2 HGNC ENSG00000071994 tier1 - - 59 0 0.00 32 4 11.11 PGBD1 0 genome.wustl.edu 37 6 28269496 28269496 + Missense_Mutation SNP A A G TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 6 28269496 28269496 A G SNP PGBD1 ENST00000259883 human ensembl 74_37 +1 known missense c.1865 p.Y622C 1.000 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,pfscan_SRCR,pfscan_Tscrpt_reg_SCAN - no_errors PGBD1 HGNC ENSG00000137338 tier1 - - 170 0 0.00 130 8 5.80 PRKAR1B 0 genome.wustl.edu 37 7 590184 590184 + Frame_Shift_Del DEL C C - TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 7 590184 590184 C - DEL PRKAR1B ENST00000360274 human ensembl 74_37 -1 known frame_shift_del c.1029 p.L345fs 0.089 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin - no_errors PRKAR1B HGNC ENSG00000188191 tier1 47 0 0.00 27 3 10.00 PTPRK 0 genome.wustl.edu 37 6 128388717 128388717 + Missense_Mutation SNP C C T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 6 128388717 128388717 C T SNP PTPRK ENST00000368227 human ensembl 74_37 -1 known missense c.2104 p.A702T 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRK HGNC ENSG00000152894 tier1 - - 70 0 0.00 66 6 8.33 RASSF5 0 genome.wustl.edu 37 1 206760022 206760022 + RNA SNP C C G TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 1 206760022 206760022 C G SNP RASSF5 ENST00000491368 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors RASSF5 HGNC ENSG00000136653 tier1 - - 37 0 0.00 37 4 9.76 RPGRIP1L 0 genome.wustl.edu 37 16 53686795 53686795 + Nonsense_Mutation SNP G G A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 16 53686795 53686795 G A SNP RPGRIP1L ENST00000379925 human ensembl 74_37 -1 known nonsense c.1804 p.R602* 1.000 pfam_DUF3250 pfam_DUF3250,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RPGRIP1L HGNC ENSG00000103494 tier1 - - 53 0 0.00 47 13 21.67 SH3BP2 0 genome.wustl.edu 37 4 2828987 2828987 + Silent SNP C C T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 4 2828987 2828987 C T SNP SH3BP2 ENST00000503393 human ensembl 74_37 +1 known silent c.630 p.Y210 0.364 NULL pfam_Pleckstrin_homology,pfam_SH2,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_SH2 - no_errors SH3BP2 HGNC ENSG00000087266 tier1 rs200183258 - 123 0 0.00 64 29 31.18 SLC22A20 0 genome.wustl.edu 37 11 64981480 64981481 + RNA INS - - C TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 11 64981480 64981481 - C INS SLC22A20 ENST00000525264 human ensembl 74_37 +1 known rna NULL NULL 0.964:0.963 - - - no_errors SLC22A20 HGNC ENSG00000197847 tier1 31 0 0.00 32 2 5.88 SLC38A8 0 genome.wustl.edu 37 16 84067015 84067015 + Missense_Mutation SNP G G A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 16 84067015 84067015 G A SNP SLC38A8 ENST00000299709 human ensembl 74_37 -1 known missense c.448 p.R150C 0.995 pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease - no_errors SLC38A8 HGNC ENSG00000166558 tier1 rs141999728 - 153 0 0.00 130 19 12.75 SLC47A1 0 genome.wustl.edu 37 17 19458975 19458975 + Missense_Mutation SNP G G A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 17 19458975 19458975 G A SNP SLC47A1 ENST00000542886 human ensembl 74_37 +1 known missense c.613 p.E205K 0.434 NULL pfam_MATE - no_errors SLC47A1 HGNC ENSG00000142494 tier1 - - 99 0 0.00 81 37 31.36 SLCO6A1 0 genome.wustl.edu 37 5 101726703 101726703 + Missense_Mutation SNP C C A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 5 101726703 101726703 C A SNP SLCO6A1 ENST00000379807 human ensembl 74_37 -1 known missense c.1861 p.V621L 0.001 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO6A1 HGNC ENSG00000205359 tier1 - - 117 0 0.00 95 5 5.00 SLCO6A1 0 genome.wustl.edu 37 5 101834464 101834464 + Missense_Mutation SNP G G T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 5 101834464 101834464 G T SNP SLCO6A1 ENST00000379807 human ensembl 74_37 -1 known missense c.85 p.P29T 0.000 NULL pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO6A1 HGNC ENSG00000205359 tier1 - - 270 0 0.00 215 48 18.25 SORL1 0 genome.wustl.edu 37 11 121425900 121425900 + Missense_Mutation SNP T T C TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 11 121425900 121425900 T C SNP SORL1 ENST00000260197 human ensembl 74_37 +1 known missense c.2444 p.L815P 1.000 smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors SORL1 HGNC ENSG00000137642 tier1 - - 149 0 0.00 150 14 8.54 SPTA1 0 genome.wustl.edu 37 1 158623116 158623116 + Nonsense_Mutation SNP G G A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 1 158623116 158623116 G A SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known nonsense c.3136 p.R1046* 0.009 superfamily_SH3_domain,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 tier1 - - 142 0 0.00 120 11 8.40 SYNE1 0 genome.wustl.edu 37 6 152671358 152671358 + Missense_Mutation SNP T T C TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 6 152671358 152671358 T C SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.11846 p.D3949G 1.000 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 116 0 0.00 77 16 17.20 SYT4 0 genome.wustl.edu 37 18 40851725 40851725 + Missense_Mutation SNP C C T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 18 40851725 40851725 C T SNP SYT4 ENST00000255224 human ensembl 74_37 -1 known missense c.922 p.V308I 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin - no_errors SYT4 HGNC ENSG00000132872 tier1 - - 124 0 0.00 87 43 33.08 TIMM50 0 genome.wustl.edu 37 19 39976401 39976401 + Missense_Mutation SNP C C T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 19 39976401 39976401 C T SNP TIMM50 ENST00000314349 human ensembl 74_37 +1 known missense c.755 p.T252M 1.000 pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF - no_errors TIMM50 HGNC ENSG00000105197 tier1 - - 96 0 0.00 86 18 17.31 TMEM132B 0 genome.wustl.edu 37 12 126138910 126138910 + Missense_Mutation SNP C C A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 12 126138910 126138910 C A SNP TMEM132B ENST00000299308 human ensembl 74_37 +1 known missense c.2891 p.P964Q 0.987 NULL NULL - no_errors TMEM132B HGNC ENSG00000139364 tier1 - - 58 0 0.00 74 7 8.64 TPH2 0 genome.wustl.edu 37 12 72372741 72372741 + Missense_Mutation SNP G G C TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 12 72372741 72372741 G C SNP TPH2 ENST00000333850 human ensembl 74_37 +1 known missense c.815 p.G272A 1.000 pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase - no_errors TPH2 HGNC ENSG00000139287 tier1 - - 162 0 0.00 128 13 9.22 TPSAB1 0 genome.wustl.edu 37 16 1292161 1292161 + Missense_Mutation SNP C C A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 16 1292161 1292161 C A SNP TPSAB1 ENST00000338844 human ensembl 74_37 +1 known missense c.748 p.Q250K 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TPSAB1 HGNC ENSG00000172236 tier1 - - 64 0 0.00 35 4 10.26 TRMT6 0 genome.wustl.edu 37 20 5930953 5930953 + Silent SNP C C T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 20 5930953 5930953 C T SNP TRMT6 ENST00000203001 human ensembl 74_37 -1 known silent c.99 p.V33 1.000 pfam_EIF3_gamma,pirsf_tRNA_m1A_mtfrase pfam_EIF3_gamma,pirsf_tRNA_m1A_mtfrase - no_errors TRMT6 HGNC ENSG00000089195 tier1 - - 136 0 0.00 169 18 9.63 TRPA1 0 genome.wustl.edu 37 8 72935326 72935326 + Missense_Mutation SNP C C T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 8 72935326 72935326 C T SNP TRPA1 ENST00000262209 human ensembl 74_37 -1 known missense c.3175 p.E1059K 1.000 NULL pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 tier1 - - 47 0 0.00 39 14 26.42 TRPC3 0 genome.wustl.edu 37 4 122853759 122853759 + Silent SNP G G A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 4 122853759 122853759 G A SNP TRPC3 ENST00000379645 human ensembl 74_37 -1 known silent c.654 p.D218 1.000 superfamily_Ankyrin_rpt-contain_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,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC3 HGNC ENSG00000138741 tier1 - - 62 0 0.00 35 11 23.91 TRPS1 0 genome.wustl.edu 37 8 116599496 116599496 + Missense_Mutation SNP T T A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 8 116599496 116599496 T A SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known missense c.2432 p.D811V 1.000 NULL pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 tier1 - - 388 0 0.00 449 29 6.05 TRPS1 0 genome.wustl.edu 37 8 116599497 116599497 + Missense_Mutation SNP C C A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 8 116599497 116599497 C A SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known missense c.2431 p.D811Y 1.000 NULL pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 tier1 - - 393 0 0.00 454 31 6.39 UBN1 0 genome.wustl.edu 37 16 4924474 4924474 + Missense_Mutation SNP C C G TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 16 4924474 4924474 C G SNP UBN1 ENST00000262376 human ensembl 74_37 +1 known missense c.2063 p.A688G 0.030 NULL NULL - no_errors UBN1 HGNC ENSG00000118900 tier1 - - 307 0 0.00 260 15 5.45 UNCX 0 genome.wustl.edu 37 7 1273299 1273299 + Missense_Mutation SNP C C A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 7 1273299 1273299 C A SNP UNCX ENST00000316333 human ensembl 74_37 +1 known missense c.418 p.L140M 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors UNCX HGNC ENSG00000164853 tier1 - - 159 0 0.00 112 16 12.40 USP34 0 genome.wustl.edu 37 2 61515931 61515931 + Missense_Mutation SNP G G T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 2 61515931 61515931 G T SNP USP34 ENST00000398571 human ensembl 74_37 -1 known missense c.4630 p.H1544N 1.000 NULL pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP34 HGNC ENSG00000115464 tier1 - - 118 0 0.00 129 24 15.69 VPS13C 0 genome.wustl.edu 37 15 62219421 62219421 + Missense_Mutation SNP T T C TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 15 62219421 62219421 T C SNP VPS13C ENST00000261517 human ensembl 74_37 -1 known missense c.6385 p.T2129A 0.304 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 tier1 - - 242 0 0.00 221 60 21.28 ZNF548 0 genome.wustl.edu 37 19 57901470 57901470 + Missense_Mutation SNP G G A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 19 57901470 57901470 G A SNP ZNF548 ENST00000336128 human ensembl 74_37 +1 known missense c.3 p.M1I 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF548 HGNC ENSG00000188785 tier1 - - 102 0 0.00 94 24 20.34 ZNF548 0 genome.wustl.edu 37 19 57901471 57901471 + Missense_Mutation SNP A A C TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 19 57901471 57901471 A C SNP ZNF548 ENST00000336128 human ensembl 74_37 +1 known missense c.4 p.N2H 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF548 HGNC ENSG00000188785 tier1 - - 100 0 0.00 96 23 19.33 ZNF786 0 genome.wustl.edu 37 7 148768363 148768363 + Missense_Mutation SNP G G A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 7 148768363 148768363 G A SNP ZNF786 ENST00000491431 human ensembl 74_37 -1 known missense c.1501 p.L501F 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 ZNF786 HGNC ENSG00000197362 tier1 - - 90 0 0.00 91 6 6.19 MEF2D 0 genome.wustl.edu 37 1 156446840 156446840 + Silent SNP G G A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 1 156446840 156446840 G A SNP MEF2D ENST00000348159 human ensembl 74_37 -1 known silent c.819 p.I273 1.000 NULL pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox - no_errors MEF2D HGNC ENSG00000116604 123 0 0 92 23 20 OR10X1 0 genome.wustl.edu 37 1 158549358 158549358 + Missense_Mutation SNP G G A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 1 158549358 158549358 G A SNP OR10X1 ENST00000368150 human ensembl 74_37 -1 known missense c.332 p.T111I 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10X1 HGNC ENSG00000186400 58 0 0 60 8 11.7647 SPTA1 0 genome.wustl.edu 37 1 158623116 158623116 + Nonsense_Mutation SNP G G A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 1 158623116 158623116 G A SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known nonsense c.3136 p.R1046* 0.009 superfamily_SH3_domain,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 136 0 0 112 11 8.94309 PAPPA2 0 genome.wustl.edu 37 1 176709278 176709278 + Missense_Mutation SNP C C T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 1 176709278 176709278 C T SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known missense c.4097 p.S1366L 0.992 NULL pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 60 0 0 70 14 16.6667 KIF21B 0 genome.wustl.edu 37 1 200959739 200959739 + Missense_Mutation SNP C C A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 1 200959739 200959739 C A SNP KIF21B ENST00000422435 human ensembl 74_37 -1 known missense c.2800 p.V934F 0.840 NULL pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21B HGNC ENSG00000116852 76 0 0 55 12 17.9104 OBSCN 0 genome.wustl.edu 37 1 228437821 228437821 + Nonsense_Mutation SNP C C T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 1 228437821 228437821 C T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known nonsense c.4189 p.R1397* 0.046 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 163 0 0 140 22 13.5802 GGPS1 0 genome.wustl.edu 37 1 235505812 235505812 + Missense_Mutation SNP G G C TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 1 235505812 235505812 G C SNP GGPS1 ENST00000282841 human ensembl 74_37 +1 known missense c.628 p.E210Q 1.000 pfam_Polyprenyl_synt,superfamily_Terpenoid_synth pfam_Polyprenyl_synt,superfamily_Terpenoid_synth - no_errors GGPS1 HGNC ENSG00000152904 76 0 0 70 4 5.40541 ACTRT2 0 genome.wustl.edu 37 1 2938272 2938272 + Missense_Mutation SNP G G C TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 1 2938272 2938272 G C SNP ACTRT2 ENST00000378404 human ensembl 74_37 +1 known missense c.22 p.D8H 0.937 pfam_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTRT2 HGNC ENSG00000169717 116 0 0 51 4 7.27273 INSL5 0 genome.wustl.edu 37 1 67266857 67266857 + Silent SNP G G T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 1 67266857 67266857 G T SNP INSL5 ENST00000304526 human ensembl 74_37 -1 known silent c.48 p.A16 0.011 superfamily_Insulin-like pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like - no_errors INSL5 HGNC ENSG00000172410 61 0 0 41 4 8.88889 BRDT 0 genome.wustl.edu 37 1 92442753 92442753 + Nonsense_Mutation SNP C C T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 1 92442753 92442753 C T SNP BRDT ENST00000362005 human ensembl 74_37 +1 known nonsense c.772 p.Q258* 1.000 superfamily_Bromodomain pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRDT HGNC ENSG00000137948 64 0 0 62 4 6.06061 NOLC1 0 genome.wustl.edu 37 10 103917849 103917849 + Missense_Mutation SNP A A C TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 10 103917849 103917849 A C SNP NOLC1 ENST00000405356 human ensembl 74_37 +1 known missense c.485 p.K162T 1.000 NULL pfam_SRP40_C,pfscan_LisH_dimerisation - no_errors NOLC1 HGNC ENSG00000166197 102 0 0 58 4 6.45161 FAM188A 0 genome.wustl.edu 37 10 15875637 15875637 + Missense_Mutation SNP G G A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 10 15875637 15875637 G A SNP FAM188A ENST00000277632 human ensembl 74_37 -1 known missense c.722 p.S241L 1.000 NULL NULL - no_errors FAM188A HGNC ENSG00000148481 56 0 0 58 5 7.93651 ACBD5 0 genome.wustl.edu 37 10 27494141 27494141 + Nonsense_Mutation SNP G G A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 10 27494141 27494141 G A SNP ACBD5 ENST00000375888 human ensembl 74_37 -1 known nonsense c.1468 p.Q490* 0.002 pirsf_M-assoc_diazepam-bd-inh pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,pirsf_M-assoc_diazepam-bd-inh,prints_Acyl-CoA-binding_protein - no_errors ACBD5 HGNC ENSG00000107897 96 0 0 81 21 20.5882 JMJD1C 0 genome.wustl.edu 37 10 64967264 64967264 + Missense_Mutation SNP T T C TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 10 64967264 64967264 T C SNP JMJD1C ENST00000399262 human ensembl 74_37 -1 known missense c.4165 p.N1389D 0.995 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD1C HGNC ENSG00000171988 109 0 0 151 14 8.48485 LRRTM3 0 genome.wustl.edu 37 10 68687575 68687575 + Missense_Mutation SNP T T G TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 10 68687575 68687575 T G SNP LRRTM3 ENST00000361320 human ensembl 74_37 +1 known missense c.901 p.W301G 1.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM3 HGNC ENSG00000198739 132 0 0 135 26 16.1491 HKDC1 0 genome.wustl.edu 37 10 70992788 70992788 + Missense_Mutation SNP G G A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 10 70992788 70992788 G A SNP HKDC1 ENST00000354624 human ensembl 74_37 +1 known missense c.394 p.D132N 1.000 pfam_Hexokinase_N pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HKDC1 HGNC ENSG00000156510 107 0 0 69 17 19.7674 MCAM 0 genome.wustl.edu 37 11 119182977 119182977 + Missense_Mutation SNP G G C TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 11 119182977 119182977 G C SNP MCAM ENST00000264036 human ensembl 74_37 -1 known missense c.1023 p.N341K 1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MCAM HGNC ENSG00000076706 134 0 0 118 14 10.6061 SORL1 0 genome.wustl.edu 37 11 121425900 121425900 + Missense_Mutation SNP T T C TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 11 121425900 121425900 T C SNP SORL1 ENST00000260197 human ensembl 74_37 +1 known missense c.2444 p.L815P 1.000 smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors SORL1 HGNC ENSG00000137642 131 0 0 135 13 8.78378 OR10S1 0 genome.wustl.edu 37 11 123847795 123847795 + Missense_Mutation SNP C C A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 11 123847795 123847795 C A SNP OR10S1 ENST00000531945 human ensembl 74_37 -1 known missense c.604 p.A202S 0.994 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10S1 HGNC ENSG00000196248 75 0 0 64 6 8.57143 OR5D13 0 genome.wustl.edu 37 11 55541233 55541233 + Missense_Mutation SNP G G T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 11 55541233 55541233 G T SNP OR5D13 ENST00000361760 human ensembl 74_37 +1 known missense c.320 p.C107F 0.007 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 OR5D13 HGNC ENSG00000198877 151 0 0 133 42 24 OR8H1 0 genome.wustl.edu 37 11 56058019 56058019 + Missense_Mutation SNP G G A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 11 56058019 56058019 G A SNP OR8H1 ENST00000313022 human ensembl 74_37 -1 known missense c.520 p.R174C 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 OR8H1 HGNC ENSG00000181693 91 0 0 51 21 29.1667 ERC1 0 genome.wustl.edu 37 12 1221445 1221445 + Missense_Mutation SNP C C T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 12 1221445 1221445 C T SNP ERC1 ENST00000360905 human ensembl 74_37 +1 known missense c.1382 p.A461V 1.000 pfam_CAZ_cplx_RIM-bd_prot pfam_CAZ_cplx_RIM-bd_prot,pfam_Rab-bd_FIP-RBD,superfamily_Prefoldin - no_errors ERC1 HGNC ENSG00000082805 125 0 0 127 39 23.494 TMEM132B 0 genome.wustl.edu 37 12 126138910 126138910 + Missense_Mutation SNP C C A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 12 126138910 126138910 C A SNP TMEM132B ENST00000299308 human ensembl 74_37 +1 known missense c.2891 p.P964Q 0.987 NULL NULL - no_errors TMEM132B HGNC ENSG00000139364 54 0 0 70 7 9.09091 RIMBP2 0 genome.wustl.edu 37 12 130912805 130912805 + Missense_Mutation SNP G G T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 12 130912805 130912805 G T SNP RIMBP2 ENST00000261655 human ensembl 74_37 -1 known missense c.2280 p.D760E 0.993 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain - no_errors RIMBP2 HGNC ENSG00000060709 91 0 0 91 5 5.20833 KRT7 0 genome.wustl.edu 37 12 52629105 52629105 + Missense_Mutation SNP C C T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 12 52629105 52629105 C T SNP KRT7 ENST00000331817 human ensembl 74_37 +1 known missense c.491 p.A164V 0.788 pfam_IF pfam_IF,superfamily_Prefoldin,superfamily_Chorismate_mutase_type_II,prints_Keratin_II - no_errors KRT7 HGNC ENSG00000135480 79 0 0 64 6 8.57143 LPAR5 0 genome.wustl.edu 37 12 6730347 6730347 + Missense_Mutation SNP C C T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 12 6730347 6730347 C T SNP LPAR5 ENST00000329858 human ensembl 74_37 -1 known missense c.68 p.R23H 0.159 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors LPAR5 HGNC ENSG00000184574 29 0 0 19 5 20.8333 TPH2 0 genome.wustl.edu 37 12 72372741 72372741 + Missense_Mutation SNP G G C TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 12 72372741 72372741 G C SNP TPH2 ENST00000333850 human ensembl 74_37 +1 known missense c.815 p.G272A 1.000 pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase - no_errors TPH2 HGNC ENSG00000139287 146 0 0 113 12 9.6 FARP1 0 genome.wustl.edu 37 13 99083428 99083428 + Missense_Mutation SNP C C A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 13 99083428 99083428 C A SNP FARP1 ENST00000376586 human ensembl 74_37 +1 known missense c.2037 p.N679K 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors FARP1 HGNC ENSG00000152767 19 0 0 20 3 13.0435 NEK9 0 genome.wustl.edu 37 14 75574178 75574178 + Missense_Mutation SNP C C T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 14 75574178 75574178 C T SNP NEK9 ENST00000238616 human ensembl 74_37 -1 known missense c.1195 p.G399S 1.000 superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Prot_kinase_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_RCC1/BLIP-II,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK9 HGNC ENSG00000119638 49 0 0 25 7 21.875 VPS13C 0 genome.wustl.edu 37 15 62219421 62219421 + Missense_Mutation SNP T T C TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 15 62219421 62219421 T C SNP VPS13C ENST00000261517 human ensembl 74_37 -1 known missense c.6385 p.T2129A 0.304 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 203 0 0 191 47 19.7479 HEXA 0 genome.wustl.edu 37 15 72641576 72641576 + Missense_Mutation SNP C C T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 15 72641576 72641576 C T SNP HEXA ENST00000268097 human ensembl 74_37 -1 known missense c.830 p.C277Y 1.000 pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_20_cat-core,pfam_Glyco_hydro_20b,superfamily_Glycoside_hydrolase_SF,prints_Beta_hexosaminidase_sua/sub - no_errors HEXA HGNC ENSG00000213614 73 0 0 54 4 6.89655 TPSAB1 0 genome.wustl.edu 37 16 1292161 1292161 + Missense_Mutation SNP C C A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 16 1292161 1292161 C A SNP TPSAB1 ENST00000338844 human ensembl 74_37 +1 known missense c.748 p.Q250K 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TPSAB1 HGNC ENSG00000172236 64 0 0 35 4 10.2564 GFER 0 genome.wustl.edu 37 16 2034718 2034718 + Missense_Mutation SNP A A G TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 16 2034718 2034718 A G SNP GFER ENST00000567719 human ensembl 74_37 +1 putative missense c.4 p.N2D 0.036 NULL pfam_ERV/ALR_sulphydryl_oxidase,superfamily_ERV/ALR_sulphydryl_oxidase - no_errors GFER HGNC ENSG00000127554 91 0 0 56 13 18.8406 ACSM2A 0 genome.wustl.edu 37 16 20491929 20491929 + Missense_Mutation SNP G G T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 16 20491929 20491929 G T SNP ACSM2A ENST00000219054 human ensembl 74_37 +1 known missense c.1316 p.G439V 0.986 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM2A HGNC ENSG00000183747 155 0 0 126 32 20.2532 RPGRIP1L 0 genome.wustl.edu 37 16 53686795 53686795 + Nonsense_Mutation SNP G G A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 16 53686795 53686795 G A SNP RPGRIP1L ENST00000379925 human ensembl 74_37 -1 known nonsense c.1804 p.R602* 1.000 pfam_DUF3250 pfam_DUF3250,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RPGRIP1L HGNC ENSG00000103494 51 0 0 44 12 21.4286 SLC38A8 0 genome.wustl.edu 37 16 84067015 84067015 + Missense_Mutation SNP G G A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 16 84067015 84067015 G A SNP SLC38A8 ENST00000299709 human ensembl 74_37 -1 known missense c.448 p.R150C 0.995 pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease - no_errors SLC38A8 HGNC ENSG00000166558 142 0 0 118 18 13.2353 GSE1 0 genome.wustl.edu 37 16 85696619 85696619 + Missense_Mutation SNP G G A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 16 85696619 85696619 G A SNP GSE1 ENST00000253458 human ensembl 74_37 +1 known missense c.2293 p.E765K 1.000 pfam_GSE-like pfam_GSE-like - no_errors GSE1 HGNC ENSG00000131149 85 0 0 63 8 11.2676 ANKRD11 0 genome.wustl.edu 37 16 89350504 89350504 + Missense_Mutation SNP C C T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 16 89350504 89350504 C T SNP ANKRD11 ENST00000301030 human ensembl 74_37 -1 known missense c.2446 p.E816K 0.983 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 21 0 0 19 15 44.1176 SLC47A1 0 genome.wustl.edu 37 17 19458975 19458975 + Missense_Mutation SNP G G A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 17 19458975 19458975 G A SNP SLC47A1 ENST00000542886 human ensembl 74_37 +1 known missense c.613 p.E205K 0.434 NULL pfam_MATE - no_errors SLC47A1 HGNC ENSG00000142494 89 0 0 69 31 31 NFE2L1 0 genome.wustl.edu 37 17 46133882 46133882 + Silent SNP C C T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 17 46133882 46133882 C T SNP NFE2L1 ENST00000362042 human ensembl 74_37 +1 known silent c.645 p.T215 1.000 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2L1 HGNC ENSG00000082641 244 0 0 146 81 35.6828 DSC2 0 genome.wustl.edu 37 18 28650780 28650780 + Missense_Mutation SNP G G A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 18 28650780 28650780 G A SNP DSC2 ENST00000280904 human ensembl 74_37 -1 known missense c.2162 p.T721M 0.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin,prints_Desmosomal_cadherin - no_errors DSC2 HGNC ENSG00000134755 77 0 0 46 21 31.3433 SYT4 0 genome.wustl.edu 37 18 40851725 40851725 + Missense_Mutation SNP C C T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 18 40851725 40851725 C T SNP SYT4 ENST00000255224 human ensembl 74_37 -1 known missense c.922 p.V308I 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin - no_errors SYT4 HGNC ENSG00000132872 110 0 0 81 39 32.5 ECSIT 0 genome.wustl.edu 37 19 11617222 11617222 + Missense_Mutation SNP G G C TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 19 11617222 11617222 G C SNP ECSIT ENST00000270517 human ensembl 74_37 -1 known missense c.1073 p.A358G 1.000 NULL pfam_ECSIT - no_errors ECSIT HGNC ENSG00000130159 128 0 0 74 15 16.8539 TIMM50 0 genome.wustl.edu 37 19 39976401 39976401 + Missense_Mutation SNP C C T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 19 39976401 39976401 C T SNP TIMM50 ENST00000314349 human ensembl 74_37 +1 known missense c.755 p.T252M 1.000 pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF - no_errors TIMM50 HGNC ENSG00000105197 88 0 0 75 15 16.6667 AXL 0 genome.wustl.edu 37 19 41758857 41758857 + Silent SNP C C G TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 19 41758857 41758857 C G SNP AXL ENST00000301178 human ensembl 74_37 +1 known silent c.1911 p.L637 0.159 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_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AXL HGNC ENSG00000167601 108 0 0 103 11 9.64912 SIRT6 0 genome.wustl.edu 37 19 4180847 4180847 + Nonsense_Mutation SNP C C T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 19 4180847 4180847 C T SNP SIRT6 ENST00000337491 human ensembl 74_37 -1 known nonsense c.126 p.W42* 0.219 pfscan_Ssirtuin_cat_dom pfam_Sirtuin,pfscan_Ssirtuin_cat_dom - no_errors SIRT6 HGNC ENSG00000077463 66 0 0 36 3 7.69231 ZNF548 0 genome.wustl.edu 37 19 57901470 57901470 + Missense_Mutation SNP G G A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 19 57901470 57901470 G A SNP ZNF548 ENST00000336128 human ensembl 74_37 +1 known missense c.3 p.M1I 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF548 HGNC ENSG00000188785 91 0 0 77 18 18.9474 ZNF548 0 genome.wustl.edu 37 19 57901471 57901471 + Missense_Mutation SNP A A C TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 19 57901471 57901471 A C SNP ZNF548 ENST00000336128 human ensembl 74_37 +1 known missense c.4 p.N2H 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF548 HGNC ENSG00000188785 91 0 0 78 18 18.75 LRRC8E 0 genome.wustl.edu 37 19 7965572 7965572 + Missense_Mutation SNP G G A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 19 7965572 7965572 G A SNP LRRC8E ENST00000306708 human ensembl 74_37 +1 known missense c.2165 p.R722H 0.589 smart_Leu-rich_rpt_typical-subtyp pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8E HGNC ENSG00000171017 120 0 0 92 19 17.1171 MUC16 0 genome.wustl.edu 37 19 9073400 9073400 + Silent SNP C C T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 19 9073400 9073400 C T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.14046 p.Q4682 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 187 0 0 131 15 10.274 GPR45 0 genome.wustl.edu 37 2 105858679 105858679 + Missense_Mutation SNP G G A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 2 105858679 105858679 G A SNP GPR45 ENST00000258456 human ensembl 74_37 +1 known missense c.364 p.V122M 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR45 HGNC ENSG00000135973 95 0 0 67 46 40.708 LRP1B 0 genome.wustl.edu 37 2 141298575 141298575 + Missense_Mutation SNP C C G TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 2 141298575 141298575 C G SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.7480 p.D2494H 1.000 smart_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,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 LRP1B HGNC ENSG00000168702 99 0 0 79 7 8.13953 NT5C1B 0 genome.wustl.edu 37 2 18767572 18767572 + Missense_Mutation SNP G G T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 2 18767572 18767572 G T SNP NT5C1B ENST00000359846 human ensembl 74_37 -1 known missense c.386 p.S129Y 0.062 NULL pfam_5-nucleotidase - no_errors NT5C1B HGNC ENSG00000185013 65 0 0 85 7 7.6087 DNAH7 0 genome.wustl.edu 37 2 196681514 196681514 + Missense_Mutation SNP C C T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 2 196681514 196681514 C T SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known missense c.9599 p.R3200H 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 68 0 0 80 7 8.04598 COL6A3 0 genome.wustl.edu 37 2 238274467 238274467 + Silent SNP G G A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 2 238274467 238274467 G A SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known silent c.5712 p.D1904 0.000 smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 105 0 0 81 12 12.9032 BIRC6 0 genome.wustl.edu 37 2 32750043 32750043 + Silent SNP G G A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 2 32750043 32750043 G A SNP BIRC6 ENST00000421745 human ensembl 74_37 +1 known silent c.11712 p.A3904 0.997 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 8 0 0 6 6 50 USP34 0 genome.wustl.edu 37 2 61515931 61515931 + Missense_Mutation SNP G G T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 2 61515931 61515931 G T SNP USP34 ENST00000398571 human ensembl 74_37 -1 known missense c.4630 p.H1544N 1.000 NULL pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP34 HGNC ENSG00000115464 108 0 0 122 21 14.6853 EXOC6B 0 genome.wustl.edu 37 2 72740271 72740271 + Missense_Mutation SNP C C G TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 2 72740271 72740271 C G SNP EXOC6B ENST00000272427 human ensembl 74_37 -1 known missense c.1157 p.R386P 1.000 pirsf_Sec15 pfam_Sec15,pirsf_Sec15 - no_errors EXOC6B HGNC ENSG00000144036 26 0 0 45 6 11.7647 FRG1B 0 genome.wustl.edu 37 20 29628300 29628300 + Missense_Mutation SNP G G A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 20 29628300 29628300 G A SNP FRG1B ENST00000278882 human ensembl 74_37 +1 known missense c.302 p.S101N 1.000 pfam_FRG1,superfamily_Actin_cross-linking pfam_FRG1,superfamily_Actin_cross-linking - no_errors FRG1B HGNC ENSG00000149531 106 1 0.934579 120 9 6.97674 TRMT6 0 genome.wustl.edu 37 20 5930953 5930953 + Silent SNP C C T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 20 5930953 5930953 C T SNP TRMT6 ENST00000203001 human ensembl 74_37 -1 known silent c.99 p.V33 1.000 pfam_EIF3_gamma,pirsf_tRNA_m1A_mtfrase pfam_EIF3_gamma,pirsf_tRNA_m1A_mtfrase - no_errors TRMT6 HGNC ENSG00000089195 121 0 0 146 18 10.9756 ITGA9 0 genome.wustl.edu 37 3 37695243 37695243 + Silent SNP C C G TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 3 37695243 37695243 C G SNP ITGA9 ENST00000264741 human ensembl 74_37 +1 known silent c.1878 p.A626 0.024 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA9 HGNC ENSG00000144668 85 0 0 94 7 6.93069 TRPC3 0 genome.wustl.edu 37 4 122853759 122853759 + Silent SNP G G A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 4 122853759 122853759 G A SNP TRPC3 ENST00000379645 human ensembl 74_37 -1 known silent c.654 p.D218 1.000 superfamily_Ankyrin_rpt-contain_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,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC3 HGNC ENSG00000138741 60 0 0 34 11 24.4444 SH3BP2 0 genome.wustl.edu 37 4 2828987 2828987 + Silent SNP C C T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 4 2828987 2828987 C T SNP SH3BP2 ENST00000503393 human ensembl 74_37 +1 known silent c.630 p.Y210 0.364 NULL pfam_Pleckstrin_homology,pfam_SH2,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_SH2 - no_errors SH3BP2 HGNC ENSG00000087266 101 0 0 54 23 29.8701 KLF3 0 genome.wustl.edu 37 4 38690456 38690456 + Missense_Mutation SNP C C T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 4 38690456 38690456 C T SNP KLF3 ENST00000261438 human ensembl 74_37 +1 known missense c.308 p.P103L 0.994 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF3 HGNC ENSG00000109787 109 0 0 83 16 16.1616 RASSF6 0 genome.wustl.edu 37 4 74442188 74442188 + Missense_Mutation SNP C C T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 4 74442188 74442188 C T SNP RASSF6 ENST00000342081 human ensembl 74_37 -1 known missense c.973 p.E325K 1.000 pfscan_SARAH_dom pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH_dom - no_errors RASSF6 HGNC ENSG00000169435 20 0 0 14 3 17.6471 SLCO6A1 0 genome.wustl.edu 37 5 101834464 101834464 + Missense_Mutation SNP G G T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 5 101834464 101834464 G T SNP SLCO6A1 ENST00000379807 human ensembl 74_37 -1 known missense c.85 p.P29T 0.000 NULL pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO6A1 HGNC ENSG00000205359 258 0 0 203 48 19.1235 PCDHB5 0 genome.wustl.edu 37 5 140516509 140516509 + Missense_Mutation SNP G G A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 5 140516509 140516509 G A SNP PCDHB5 ENST00000231134 human ensembl 74_37 +1 known missense c.1493 p.R498H 0.003 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB5 HGNC ENSG00000113209 253 0 0 205 32 13.5021 PCDHGA2 0 genome.wustl.edu 37 5 140718933 140718933 + Missense_Mutation SNP G G T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 5 140718933 140718933 G T SNP PCDHGA2 ENST00000394576 human ensembl 74_37 +1 known missense c.395 p.R132L 0.987 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA2 HGNC ENSG00000081853 119 0 0 86 6 6.52174 PCDHGA11 0 genome.wustl.edu 37 5 140801789 140801789 + Missense_Mutation SNP C C T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 5 140801789 140801789 C T SNP PCDHGA11 ENST00000398587 human ensembl 74_37 +1 known missense c.995 p.T332M 0.017 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA11 HGNC ENSG00000253873 90 0 0 73 13 15.1163 KIF4B 0 genome.wustl.edu 37 5 154395601 154395601 + Missense_Mutation SNP C C T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 5 154395601 154395601 C T SNP KIF4B ENST00000435029 human ensembl 74_37 +1 known missense c.2182 p.R728W 0.973 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 58 0 0 43 8 15.6863 HTR1A 0 genome.wustl.edu 37 5 63256685 63256685 + Missense_Mutation SNP C C T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 5 63256685 63256685 C T SNP HTR1A ENST00000323865 human ensembl 74_37 -1 known missense c.862 p.A288T 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt - no_errors HTR1A HGNC ENSG00000178394 59 0 0 47 7 12.963 PTPRK 0 genome.wustl.edu 37 6 128388717 128388717 + Missense_Mutation SNP C C T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 6 128388717 128388717 C T SNP PTPRK ENST00000368227 human ensembl 74_37 -1 known missense c.2104 p.A702T 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRK HGNC ENSG00000152894 63 0 0 60 6 9.09091 SYNE1 0 genome.wustl.edu 37 6 152671358 152671358 + Missense_Mutation SNP T T C TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 6 152671358 152671358 T C SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.11846 p.D3949G 1.000 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 104 0 0 72 13 15.2941 LPAL2 0 genome.wustl.edu 37 6 160903753 160903753 + RNA SNP G G T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 6 160903753 160903753 G T SNP LPAL2 ENST00000335388 human ensembl 74_37 -1 known rna NULL NULL 0.061 - - - no_errors LPAL2 HGNC ENSG00000213071 312 0 0 193 78 28.7823 LMBRD1 0 genome.wustl.edu 37 6 70410688 70410688 + Missense_Mutation SNP C C T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 6 70410688 70410688 C T SNP LMBRD1 ENST00000370577 human ensembl 74_37 -1 known missense c.1157 p.R386Q 1.000 NULL pfam_LMBR1-like_membr_prot - no_errors LMBRD1 HGNC ENSG00000168216 15 0 0 14 6 30 RIMS1 0 genome.wustl.edu 37 6 72889501 72889501 + Missense_Mutation SNP C C T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 6 72889501 72889501 C T SNP RIMS1 ENST00000521978 human ensembl 74_37 +1 known missense c.695 p.A232V 0.000 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 81 0 0 79 7 8.13953 DSP 0 genome.wustl.edu 37 6 7569519 7569519 + Missense_Mutation SNP C C T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 6 7569519 7569519 C T SNP DSP ENST00000379802 human ensembl 74_37 +1 known missense c.1520 p.S507F 1.000 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 134 0 0 120 21 14.8936 ACHE 0 genome.wustl.edu 37 7 100490027 100490027 + Missense_Mutation SNP C C T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 7 100490027 100490027 C T SNP ACHE ENST00000302913 human ensembl 74_37 -1 known missense c.1481 p.R494Q 0.279 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors ACHE HGNC ENSG00000087085 90 0 0 45 22 32.8358 UNCX 0 genome.wustl.edu 37 7 1273299 1273299 + Missense_Mutation SNP C C A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 7 1273299 1273299 C A SNP UNCX ENST00000316333 human ensembl 74_37 +1 known missense c.418 p.L140M 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors UNCX HGNC ENSG00000164853 131 0 0 91 12 11.6505 ZNF786 0 genome.wustl.edu 37 7 148768363 148768363 + Missense_Mutation SNP G G A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 7 148768363 148768363 G A SNP ZNF786 ENST00000491431 human ensembl 74_37 -1 known missense c.1501 p.L501F 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 ZNF786 HGNC ENSG00000197362 76 0 0 74 5 6.32911 CLIP2 0 genome.wustl.edu 37 7 73768230 73768230 + Silent SNP C C T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 7 73768230 73768230 C T SNP CLIP2 ENST00000223398 human ensembl 74_37 +1 known silent c.699 p.G233 0.040 pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain - no_errors CLIP2 HGNC ENSG00000106665 186 0 0 166 19 10.2703 TRPS1 0 genome.wustl.edu 37 8 116599496 116599496 + Missense_Mutation SNP T T A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 8 116599496 116599496 T A SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known missense c.2432 p.D811V 1.000 NULL pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 348 0 0 402 26 6.07477 TRPS1 0 genome.wustl.edu 37 8 116599497 116599497 + Missense_Mutation SNP C C A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 8 116599497 116599497 C A SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known missense c.2431 p.D811Y 1.000 NULL pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 352 0 0 406 27 6.23557 TRPA1 0 genome.wustl.edu 37 8 72935326 72935326 + Missense_Mutation SNP C C T TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 8 72935326 72935326 C T SNP TRPA1 ENST00000262209 human ensembl 74_37 -1 known missense c.3175 p.E1059K 1.000 NULL pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 46 0 0 32 13 28.8889 MUSK 0 genome.wustl.edu 37 9 113530150 113530150 + Missense_Mutation SNP T T A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 9 113530150 113530150 T A SNP MUSK ENST00000374448 human ensembl 74_37 +1 known missense c.971 p.V324E 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,pfscan_Frizzled_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Frizzled_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MUSK HGNC ENSG00000030304 95 0 0 90 22 19.6429 MLLT3 0 genome.wustl.edu 37 9 20414346 20414346 + Silent SNP G G A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 9 20414346 20414346 G A SNP MLLT3 ENST00000380338 human ensembl 74_37 -1 known silent c.498 p.S166 0.975 NULL pfam_YEATS,pfscan_YEATS - no_errors MLLT3 HGNC ENSG00000171843 57 0 0 47 4 7.84314 CDKN2A 0 genome.wustl.edu 37 9 21974679 21974679 + Nonsense_Mutation SNP G G A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 9 21974679 21974679 G A SNP CDKN2A ENST00000446177 human ensembl 74_37 -1 known nonsense c.148 p.Q50* 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors CDKN2A HGNC ENSG00000147889 316 0 0 184 109 37.2014 NHS 0 genome.wustl.edu 37 X 17743694 17743694 + Missense_Mutation SNP G G A TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 X 17743694 17743694 G A SNP NHS ENST00000380060 human ensembl 74_37 +1 known missense c.1405 p.G469S 0.999 NULL NULL - no_errors NHS HGNC ENSG00000188158 103 0 0 107 8 6.95652 ARID1A 0 genome.wustl.edu 37 1 27105808 27105809 + Frame_Shift_Del DEL AG AG - TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 1 27105808 27105809 AG - DEL ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_del c.5419_5420 p.S1807fs 1.000:1.000 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 ARID1A HGNC ENSG00000117713 72 0 0 49 22 30.9859 KDM6B 0 genome.wustl.edu 37 17 7751859 7751861 + In_Frame_Del DEL CAC CAC - TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 CAC CAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 17 7751859 7751861 CAC - DEL KDM6B ENST00000254846 human ensembl 74_37 +1 known in_frame_del c.2253_2255 p.T755in_frame_del 0.000:0.006:0.963 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM6B HGNC ENSG00000132510 62 0 0 55 6 9.83607 CNTLN 0 genome.wustl.edu 37 9 17462981 17462983 + In_Frame_Del DEL AAG AAG - TCGA-MX-A663-01A-11D-A31L-08 TCGA-MX-A663-10A-01D-A31J-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6e1b304-b107-47fb-820c-d8bbb33b3fd5 5dc65a67-9f1d-4802-9dac-58bae3e00d80 9 17462981 17462983 AAG - DEL CNTLN ENST00000380647 human ensembl 74_37 +1 known in_frame_del c.3374_3376 p.E1127in_frame_del 1.000:1.000:1.000 NULL superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 60 0 0 62 8 11.4286