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 ACADSB 0 genome.wustl.edu 37 10 124810675 124810675 + Silent SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 10 124810675 124810675 G A SNP ACADSB ENST00000358776 human ensembl 74_37 +1 known silent c.1101 p.A367 0.501 pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors ACADSB HGNC ENSG00000196177 tier1 rs145295182 - 56 0 0.00 27 12 30.77 ACHE 0 genome.wustl.edu 37 7 100491648 100491648 + Missense_Mutation SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 7 100491648 100491648 G A SNP ACHE ENST00000302913 human ensembl 74_37 -1 known missense c.206 p.A69V 0.988 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors ACHE HGNC ENSG00000087085 tier1 - - 89 0 0.00 42 33 44.00 ADAM12 0 genome.wustl.edu 37 10 127734653 127734653 + Nonsense_Mutation SNP C C A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 10 127734653 127734653 C A SNP ADAM12 ENST00000368679 human ensembl 74_37 -1 known nonsense c.1975 p.E659* 0.186 pfscan_EG-like_dom 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_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM12 HGNC ENSG00000148848 tier1 - - 45 0 0.00 30 24 43.64 ADORA3 0 genome.wustl.edu 37 1 112043252 112043253 + RNA DEL GA GA - TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 1 112043252 112043253 GA - DEL ADORA3 ENST00000486342 human ensembl 74_37 -1 putative rna NULL NULL 0.000:0.000 - - - no_errors ADORA3 HGNC ENSG00000121933 tier1 21 0 0.00 3 2 40.00 AMY2B 0 genome.wustl.edu 37 1 104116391 104116391 + Missense_Mutation SNP C C G TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 1 104116391 104116391 C G SNP AMY2B ENST00000361355 human ensembl 74_37 +1 known missense c.575 p.S192C 0.936 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase - no_errors AMY2B HGNC ENSG00000240038 tier1 - - 241 0 0.00 86 51 37.23 ANK2 0 genome.wustl.edu 37 4 114278181 114278181 + Nonsense_Mutation SNP G G T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 4 114278181 114278181 G T SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known nonsense c.8407 p.E2803* 0.004 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 28 0 0.00 25 2 7.14 ANKRD50 0 genome.wustl.edu 37 4 125592765 125592765 + Missense_Mutation SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 4 125592765 125592765 C T SNP ANKRD50 ENST00000504087 human ensembl 74_37 -1 known missense c.1667 p.G556D 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD50 HGNC ENSG00000151458 tier1 - - 55 0 0.00 19 14 42.42 APC 0 genome.wustl.edu 37 5 112175951 112175952 + Frame_Shift_Ins INS - - A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 5 112175951 112175952 - A INS APC ENST00000257430 human ensembl 74_37 +1 known frame_shift_ins c.4660_4661 p.T1556fs 0.925:0.945 NULL pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 tier1 55 0 0.00 7 16 69.57 ARHGEF15 0 genome.wustl.edu 37 17 8215725 8215725 + Missense_Mutation SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 17 8215725 8215725 C T SNP ARHGEF15 ENST00000361926 human ensembl 74_37 +1 known missense c.368 p.P123L 0.996 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF15 HGNC ENSG00000198844 tier1 - - 104 0 0.00 8 54 87.10 ARID4B 0 genome.wustl.edu 37 1 235409746 235409748 + In_Frame_Del DEL TCT TCT - TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 1 235409746 235409748 TCT - DEL ARID4B ENST00000264183 human ensembl 74_37 -1 known in_frame_del c.435_433 p.R145in_frame_del 1.000:1.000:1.000 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4B HGNC ENSG00000054267 tier1 106 0 0.00 72 27 27.27 ARL5C 0 genome.wustl.edu 37 17 37316924 37316924 + Silent SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 17 37316924 37316924 C T SNP ARL5C ENST00000269586 human ensembl 74_37 -1 known silent c.411 p.E137 0.983 pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARL5C HGNC ENSG00000141748 tier1 - - 72 0 0.00 142 805 85.01 AXL 0 genome.wustl.edu 37 19 41754709 41754709 + Silent SNP T T C TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 19 41754709 41754709 T C SNP AXL ENST00000301178 human ensembl 74_37 +1 known silent c.1695 p.A565 0.987 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 - - 56 0 0.00 26 10 27.78 AZI2 0 genome.wustl.edu 37 3 28364075 28364075 + RNA SNP C C G TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 3 28364075 28364075 C G SNP AZI2 ENST00000295748 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors AZI2 HGNC ENSG00000163512 tier1 - - 113 0 0.00 19 53 73.61 BAI3 0 genome.wustl.edu 37 6 70034887 70034887 + Silent SNP A A C TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 6 70034887 70034887 A C SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known silent c.2938 p.R980 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 tier1 - - 91 0 0.00 39 12 23.53 BICC1 0 genome.wustl.edu 37 10 60577321 60577321 + Splice_Site SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 10 60577321 60577321 G A SNP BICC1 ENST00000373886 human ensembl 74_37 +1 known splice_site c.2534-1 e19-1 1.000 - - - no_errors BICC1 HGNC ENSG00000122870 tier1 - - 73 0 0.00 33 14 29.79 BZRAP1 0 genome.wustl.edu 37 17 56397906 56397906 + Missense_Mutation SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 17 56397906 56397906 C T SNP BZRAP1 ENST00000355701 human ensembl 74_37 -1 known missense c.1459 p.V487M 0.997 NULL pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain - no_errors BZRAP1 HGNC ENSG00000005379 tier1 - - 120 0 0.00 41 62 60.19 C2CD3 0 genome.wustl.edu 37 11 73789404 73789404 + Silent SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 11 73789404 73789404 C T SNP C2CD3 ENST00000334126 human ensembl 74_37 -1 known silent c.4359 p.K1453 0.948 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom - no_errors C2CD3 HGNC ENSG00000168014 tier1 - - 110 0 0.00 39 4 9.30 C3orf79 0 genome.wustl.edu 37 3 153203846 153203846 + Missense_Mutation SNP C C A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 3 153203846 153203846 C A SNP C3orf79 ENST00000446603 human ensembl 74_37 +1 known missense c.175 p.P59T 0.001 NULL NULL - no_errors C3orf79 HGNC ENSG00000237787 tier1 - - 68 0 0.00 40 17 29.82 C6 0 genome.wustl.edu 37 5 41155094 41155094 + Missense_Mutation SNP T T A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 5 41155094 41155094 T A SNP C6 ENST00000263413 human ensembl 74_37 -1 known missense c.2081 p.Q694L 0.729 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal_dom,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt - no_errors C6 HGNC ENSG00000039537 tier1 - - 55 0 0.00 26 28 51.85 C8orf74 0 genome.wustl.edu 37 8 10532174 10532174 + Missense_Mutation SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 8 10532174 10532174 C T SNP C8orf74 ENST00000304519 human ensembl 74_37 +1 known missense c.67 p.R23C 0.223 NULL NULL - no_errors C8orf74 HGNC ENSG00000171060 tier1 - - 37 0 0.00 4 12 75.00 C9 0 genome.wustl.edu 37 5 39289010 39289010 + Missense_Mutation SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 5 39289010 39289010 G A SNP C9 ENST00000263408 human ensembl 74_37 -1 known missense c.1460 p.A487V 0.998 pfam_MACPF,smart_MACPF,prints_MAC_perforin pfam_MACPF,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt - no_errors C9 HGNC ENSG00000113600 tier1 - - 76 0 0.00 70 4 5.41 CA10 0 genome.wustl.edu 37 17 49731019 49731019 + Missense_Mutation SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 17 49731019 49731019 C T SNP CA10 ENST00000340813 human ensembl 74_37 -1 known missense c.562 p.V188I 1.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA10 HGNC ENSG00000154975 tier1 - - 86 0 0.00 34 41 54.67 CACNA1E 0 genome.wustl.edu 37 1 181732596 181732596 + Missense_Mutation SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 1 181732596 181732596 C T SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known missense c.4744 p.R1582C 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 tier1 - - 66 0 0.00 42 26 37.68 CACNA1E 0 genome.wustl.edu 37 1 181732614 181732614 + Missense_Mutation SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 1 181732614 181732614 C T SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known missense c.4762 p.R1588C 0.999 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 tier1 - - 71 0 0.00 43 15 25.86 CAMK1D 0 genome.wustl.edu 37 10 12802957 12802957 + Missense_Mutation SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 10 12802957 12802957 G A SNP CAMK1D ENST00000378847 human ensembl 74_37 +1 known missense c.310 p.G104R 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CAMK1D HGNC ENSG00000183049 tier1 - - 67 0 0.00 48 13 21.31 CAPZA1 0 genome.wustl.edu 37 1 113212706 113212706 + Nonsense_Mutation SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 1 113212706 113212706 G A SNP CAPZA1 ENST00000263168 human ensembl 74_37 +1 known nonsense c.813 p.W271* 1.000 pfam_CapZ_alpha,prints_CapZ_alpha pfam_CapZ_alpha,prints_CapZ_alpha - no_errors CAPZA1 HGNC ENSG00000116489 tier1 - - 51 0 0.00 13 13 50.00 CCDC73 0 genome.wustl.edu 37 11 32675584 32675584 + Splice_Site SNP C C A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 11 32675584 32675584 C A SNP CCDC73 ENST00000335185 human ensembl 74_37 -1 known splice_site c.775-1 e10-1 1.000 - - - no_errors CCDC73 HGNC ENSG00000186714 45 0 0.00 17 2 10.53 CCNB2 0 genome.wustl.edu 37 15 59408989 59408989 + Missense_Mutation SNP T T C TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 15 59408989 59408989 T C SNP CCNB2 ENST00000288207 human ensembl 74_37 +1 known missense c.698 p.F233S 0.998 pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCNB2 HGNC ENSG00000157456 tier1 - - 62 0 0.00 57 28 32.94 CCNJL 0 genome.wustl.edu 37 5 159680513 159680513 + Missense_Mutation SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 5 159680513 159680513 G A SNP CCNJL ENST00000393977 human ensembl 74_37 -1 known missense c.1180 p.P394S 0.948 NULL pfam_Cyclin_C-dom,pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNJL HGNC ENSG00000135083 81 0 0.00 50 4 7.41 CDH2 0 genome.wustl.edu 37 18 25570060 25570060 + Splice_Site SNP C C A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 18 25570060 25570060 C A SNP CDH2 ENST00000269141 human ensembl 74_37 -1 known splice_site c.1598+1 e10+1 1.000 - - - no_errors CDH2 HGNC ENSG00000170558 tier1 - - 94 0 0.00 26 12 31.58 CDH2 0 genome.wustl.edu 37 18 25570148 25570148 + Missense_Mutation SNP A A T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 18 25570148 25570148 A T SNP CDH2 ENST00000269141 human ensembl 74_37 -1 known missense c.1511 p.I504N 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH2 HGNC ENSG00000170558 tier1 - - 128 0 0.00 39 28 41.79 CHIC1 0 genome.wustl.edu 37 X 72804366 72804366 + Silent SNP A A G TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 X 72804366 72804366 A G SNP CHIC1 ENST00000373502 human ensembl 74_37 +1 known silent c.465 p.T155 0.967 pfam_Golgin_A_7/ERF4 pfam_Golgin_A_7/ERF4 - no_errors CHIC1 HGNC ENSG00000204116 tier1 - - 51 0 0.00 31 20 39.22 CHST3 0 genome.wustl.edu 37 10 73767768 73767768 + Missense_Mutation SNP G G T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 10 73767768 73767768 G T SNP CHST3 ENST00000373115 human ensembl 74_37 +1 known missense c.979 p.D327Y 0.008 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST3 HGNC ENSG00000122863 tier1 - - 18 0 0.00 5 4 44.44 CLCN1 0 genome.wustl.edu 37 7 143020445 143020445 + Missense_Mutation SNP G G T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 7 143020445 143020445 G T SNP CLCN1 ENST00000343257 human ensembl 74_37 +1 known missense c.740 p.S247I 1.000 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl_channel-1 - no_errors CLCN1 HGNC ENSG00000188037 61 0 0.00 51 4 7.27 COL20A1 0 genome.wustl.edu 37 20 61926504 61926504 + Silent SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 20 61926504 61926504 G A SNP COL20A1 ENST00000326996 human ensembl 74_37 +1 known silent c.45 p.L15 0.949 NULL pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL20A1 HGNC ENSG00000101203 tier1 - - 158 0 0.00 141 37 20.79 COL25A1 0 genome.wustl.edu 37 4 110223107 110223107 + Silent SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 4 110223107 110223107 G A SNP COL25A1 ENST00000399132 human ensembl 74_37 -1 known silent c.69 p.A23 0.000 NULL pfam_Collagen - no_errors COL25A1 HGNC ENSG00000188517 tier1 - - 117 0 0.00 82 18 18.00 CRYBB1 0 genome.wustl.edu 37 22 27008099 27008099 + Missense_Mutation SNP T T C TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 22 27008099 27008099 T C SNP CRYBB1 ENST00000215939 human ensembl 74_37 -1 known missense c.236 p.E79G 1.000 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBB1 HGNC ENSG00000100122 40 0 0.00 49 3 5.66 CSMD1 0 genome.wustl.edu 37 8 2857633 2857633 + Missense_Mutation SNP C C G TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 8 2857633 2857633 C G SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.8053 p.D2685H 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 tier1 - - 62 0 0.00 8 22 73.33 CSNK1E 0 genome.wustl.edu 37 22 38690402 38690402 + Missense_Mutation SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 22 38690402 38690402 G A SNP CSNK1E ENST00000359867 human ensembl 74_37 -1 known missense c.1024 p.R342C 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CSNK1E HGNC ENSG00000213923 tier1 - - 11 0 0.00 1 10 90.91 CXCR3 0 genome.wustl.edu 37 X 70837155 70837155 + Missense_Mutation SNP A A C TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 X 70837155 70837155 A C SNP CXCR3 ENST00000373691 human ensembl 74_37 -1 known missense c.308 p.L103R 0.996 prints_GPCR_Rhodpsn,prints_Chemokine_CXCR4,prints_Chemokine_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR3,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR4,prints_Chemokine_rcpt,prints_ATII_rcpt - no_errors CXCR3 HGNC ENSG00000186810 9 0 0.00 2 9 81.82 DDX11L1 0 genome.wustl.edu 37 1 13308 13308 + RNA SNP T T G TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 1 13308 13308 T G SNP DDX11L1 ENST00000456328 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors DDX11L1 HGNC ENSG00000223972 tier1 - - 44 0 0.00 30 6 16.67 DGKK 0 genome.wustl.edu 37 X 50165516 50165516 + RNA SNP G G T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 X 50165516 50165516 G T SNP DGKK ENST00000376025 human ensembl 74_37 -1 known rna NULL NULL 0.984 - - - no_errors DGKK HGNC ENSG00000204466 tier1 - - 73 0 0.00 14 51 78.46 DLEC1 0 genome.wustl.edu 37 3 38138760 38138760 + Missense_Mutation SNP G G T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 3 38138760 38138760 G T SNP DLEC1 ENST00000346219 human ensembl 74_37 +1 known missense c.2428 p.V810F 0.395 superfamily_PapD-like superfamily_PapD-like - no_errors DLEC1 HGNC ENSG00000008226 tier1 - - 104 0 0.00 54 4 6.90 DLG1 0 genome.wustl.edu 37 3 196857506 196857506 + Missense_Mutation SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 3 196857506 196857506 C T SNP DLG1 ENST00000346964 human ensembl 74_37 -1 known missense c.1156 p.E386K 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_MAGUK_PEST_N,pfam_L27_1,pfam_PDZ_assoc,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG1 HGNC ENSG00000075711 tier1 - - 55 0 0.00 32 30 48.39 DNAH10 0 genome.wustl.edu 37 12 124332541 124332541 + Missense_Mutation SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 12 124332541 124332541 G A SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known missense c.5494 p.G1832S 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 tier1 - - 50 0 0.00 20 21 51.22 DNM1P51 0 genome.wustl.edu 37 15 84959139 84959139 + RNA SNP G G C TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 15 84959139 84959139 G C SNP DNM1P51 ENST00000558801 human ensembl 74_37 -1 known rna NULL NULL 0.853 - - - no_errors DNM1P51 HGNC ENSG00000235370 tier1 - - 14 0 0.00 2 5 71.43 DNM1P51 0 genome.wustl.edu 37 15 84959829 84959829 + RNA SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 15 84959829 84959829 G A SNP DNM1P51 ENST00000558801 human ensembl 74_37 -1 known rna NULL NULL 0.264 - - - no_errors DNM1P51 HGNC ENSG00000235370 tier1 - - 19 0 0.00 15 9 37.50 DPYD 0 genome.wustl.edu 37 1 97839190 97839190 + Missense_Mutation SNP G G T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 1 97839190 97839190 G T SNP DPYD ENST00000370192 human ensembl 74_37 -1 known missense c.1985 p.A662E 1.000 pfam_Dihydroorotate_DH_1_2,pfam_tRNA_hU_synthase,tigrfam_Dihydroorotate_DH pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH - no_errors DPYD HGNC ENSG00000188641 76 0 0.00 30 2 6.25 EBF1 0 genome.wustl.edu 37 5 158139190 158139190 + Silent SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 5 158139190 158139190 G A SNP EBF1 ENST00000313708 human ensembl 74_37 -1 known silent c.1521 p.N507 0.640 NULL pfam_IPT,superfamily_Ig_E-set,superfamily_bHLH_dom,smart_IPT - no_errors EBF1 HGNC ENSG00000164330 tier1 - - 69 0 0.00 17 12 41.38 EBF4 0 genome.wustl.edu 37 20 2686365 2686365 + Missense_Mutation SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 20 2686365 2686365 G A SNP EBF4 ENST00000380648 human ensembl 74_37 +1 known missense c.268 p.V90M 1.000 NULL pfam_IPT,superfamily_Ig_E-set,smart_IPT - no_errors EBF4 HGNC ENSG00000088881 tier1 - - 132 0 0.00 86 21 19.63 EFCC1 0 genome.wustl.edu 37 3 128753059 128753059 + Missense_Mutation SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 3 128753059 128753059 G A SNP EFCC1 ENST00000436022 human ensembl 74_37 +1 known missense c.25 p.G9S 0.000 NULL NULL - no_errors EFCC1 HGNC ENSG00000114654 tier1 - - 61 0 0.00 40 8 16.67 EID3 0 genome.wustl.edu 37 12 104698038 104698038 + Nonsense_Mutation SNP C C A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 12 104698038 104698038 C A SNP EID3 ENST00000527879 human ensembl 74_37 +1 known nonsense c.326 p.S109* 0.000 pfam_Nse4_C pfam_Nse4_C - no_errors EID3 HGNC ENSG00000255150 tier1 - - 79 0 0.00 11 35 76.09 ELOVL5 0 genome.wustl.edu 37 6 53138125 53138125 + Missense_Mutation SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 6 53138125 53138125 G A SNP ELOVL5 ENST00000541407 human ensembl 74_37 -1 known missense c.595 p.L199F 0.902 pfam_GNS1_SUR4 pfam_GNS1_SUR4 - no_errors ELOVL5 HGNC ENSG00000012660 tier1 - - 109 0 0.00 78 30 27.78 EMID1 0 genome.wustl.edu 37 22 29650196 29650196 + Missense_Mutation SNP A A G TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 22 29650196 29650196 A G SNP EMID1 ENST00000334018 human ensembl 74_37 +1 known missense c.1124 p.E375G 1.000 NULL pfam_Collagen,pfam_EMI_domain,pfscan_EMI_domain - no_errors EMID1 HGNC ENSG00000186998 74 0 0.00 65 5 7.14 ENOX1 0 genome.wustl.edu 37 13 43900600 43900600 + Silent SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 13 43900600 43900600 C T SNP ENOX1 ENST00000261488 human ensembl 74_37 -1 known silent c.1098 p.S366 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ENOX1 HGNC ENSG00000120658 tier1 - - 118 0 0.00 102 19 15.70 ENSG00000205018 0 genome.wustl.edu 37 16 89017500 89017500 + Missense_Mutation SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 16 89017500 89017500 C T SNP ENSG00000205018 ENST00000378347 human ensembl 74_37 +1 putative missense c.974 p.P325L 0.729 NULL NULL - no_errors RP11-830F9.6 Clone_based_vega_gene ENSG00000205018 tier1 rs201099523 - 191 0 0.00 33 163 83.16 ENSG00000223579 0 genome.wustl.edu 37 22 20640840 20640840 + RNA SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 22 20640840 20640840 G A SNP ENSG00000223579 ENST00000577456 human ensembl 74_37 -1 known rna NULL NULL 0.052 - - - no_errors AC011718.2 Clone_based_vega_gene ENSG00000223579 185 0 0.00 141 14 9.03 ENSG00000251429 0 genome.wustl.edu 37 4 159198915 159198915 + RNA SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 4 159198915 159198915 G A SNP ENSG00000251429 ENST00000512016 human ensembl 74_37 +1 known rna NULL NULL 0.951 - - - no_errors RP11-597D13.7 Clone_based_vega_gene ENSG00000251429 tier1 - - 31 0 0.00 15 12 44.44 ENSG00000267243 0 genome.wustl.edu 37 19 29213649 29213649 + RNA SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 19 29213649 29213649 C T SNP ENSG00000267243 ENST00000590072 human ensembl 74_37 -1 known rna NULL NULL 0.715 - - - no_errors AC005307.3 Clone_based_vega_gene ENSG00000267243 tier1 - - 23 0 0.00 10 17 62.96 EPB41L3 0 genome.wustl.edu 37 18 5478309 5478309 + Silent SNP G G T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 18 5478309 5478309 G T SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known silent c.312 p.V104 0.998 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L3 HGNC ENSG00000082397 tier1 - - 90 0 0.00 77 15 16.30 ERBB2 0 genome.wustl.edu 37 17 37879610 37879610 + Missense_Mutation SNP T T A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 17 37879610 37879610 T A SNP ERBB2 ENST00000269571 human ensembl 74_37 +1 known missense c.1985 p.L662Q 0.998 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB2 HGNC ENSG00000141736 tier1 - - 79 0 0.00 1780 601 25.19 F3 0 genome.wustl.edu 37 1 95005863 95005863 + Silent SNP A A T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 1 95005863 95005863 A T SNP F3 ENST00000334047 human ensembl 74_37 -1 known silent c.162 p.I54 0.990 superfamily_Fibronectin_type3,pirsf_Tissue_fac/coagulation_fac-3,prints_Tissue_factor pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pirsf_Tissue_fac/coagulation_fac-3,prints_Tissue_factor - no_errors F3 HGNC ENSG00000117525 tier1 - - 111 0 0.00 56 30 34.88 FAM171A1 0 genome.wustl.edu 37 10 15256431 15256431 + Missense_Mutation SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 10 15256431 15256431 C T SNP FAM171A1 ENST00000378116 human ensembl 74_37 -1 known missense c.1156 p.E386K 0.073 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171A1 HGNC ENSG00000148468 50 0 0.00 42 5 10.42 FAM83B 0 genome.wustl.edu 37 6 54806542 54806542 + Nonsense_Mutation SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 6 54806542 54806542 C T SNP FAM83B ENST00000306858 human ensembl 74_37 +1 known nonsense c.2773 p.R925* 0.000 NULL pfam_DUF1669 - no_errors FAM83B HGNC ENSG00000168143 tier1 - - 57 0 0.00 36 15 29.41 FAM90A27P 0 genome.wustl.edu 37 19 53786091 53786091 + RNA SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 19 53786091 53786091 C T SNP FAM90A27P ENST00000599085 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors FAM90A27P HGNC ENSG00000189348 tier1 - - 136 0 0.00 44 24 35.29 FAT1 0 genome.wustl.edu 37 4 187521446 187521446 + Missense_Mutation SNP G G T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 4 187521446 187521446 G T SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known missense c.11709 p.S3903R 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 tier1 - - 42 0 0.00 34 4 10.53 FBN3 0 genome.wustl.edu 37 19 8156451 8156451 + Missense_Mutation SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 19 8156451 8156451 G A SNP FBN3 ENST00000270509 human ensembl 74_37 -1 known missense c.5929 p.P1977S 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 71 0 0.00 20 2 9.09 FBXL2 0 genome.wustl.edu 37 3 33406164 33406164 + Silent SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 3 33406164 33406164 G A SNP FBXL2 ENST00000484457 human ensembl 74_37 +1 known silent c.243 p.R81 1.000 smart_Leu-rich_rpt_Cys-con_subtyp pfam_Leu-rich_rpt,pfam_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL2 HGNC ENSG00000153558 tier1 - - 89 0 0.00 45 44 49.44 FGF1 0 genome.wustl.edu 37 5 141974989 141974989 + Missense_Mutation SNP A A G TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 5 141974989 141974989 A G SNP FGF1 ENST00000337706 human ensembl 74_37 -1 known missense c.334 p.Y112H 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF1 HGNC ENSG00000113578 76 0 0.00 45 3 6.25 FGF23 0 genome.wustl.edu 37 12 4479524 4479524 + Silent SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 12 4479524 4479524 G A SNP FGF23 ENST00000237837 human ensembl 74_37 -1 known silent c.741 p.F247 0.008 NULL pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF23 HGNC ENSG00000118972 tier1 - - 64 0 0.00 24 22 47.83 FGF7 0 genome.wustl.edu 37 15 49776663 49776663 + Nonsense_Mutation SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 15 49776663 49776663 C T SNP FGF7 ENST00000267843 human ensembl 74_37 +1 known nonsense c.547 p.Q183* 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF7 HGNC ENSG00000140285 tier1 - - 424 0 0.00 221 132 37.18 FGFRL1 0 genome.wustl.edu 37 4 1019076 1019076 + Missense_Mutation SNP T T A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 4 1019076 1019076 T A SNP FGFRL1 ENST00000264748 human ensembl 74_37 +1 known missense c.1456 p.S486T 0.992 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FGFRL1 HGNC ENSG00000127418 31 0 0.00 28 2 6.67 FLYWCH1 0 genome.wustl.edu 37 16 2980438 2980438 + Missense_Mutation SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 16 2980438 2980438 G A SNP FLYWCH1 ENST00000399667 human ensembl 74_37 +1 known missense c.353 p.R118K 0.965 pfam_Znf_FLYWCH pfam_Znf_FLYWCH - no_errors FLYWCH1 HGNC ENSG00000059122 tier1 - - 86 0 0.00 32 31 49.21 FNIP1 0 genome.wustl.edu 37 5 131039772 131039772 + Missense_Mutation SNP T T G TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 5 131039772 131039772 T G SNP FNIP1 ENST00000510461 human ensembl 74_37 -1 known missense c.1102 p.S368R 1.000 NULL NULL - no_errors FNIP1 HGNC ENSG00000217128 tier1 - - 99 0 0.00 32 17 34.69 GDF7 0 genome.wustl.edu 37 2 20870855 20870855 + Silent SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 2 20870855 20870855 C T SNP GDF7 ENST00000272224 human ensembl 74_37 +1 known silent c.1023 p.H341 0.972 NULL pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF7 HGNC ENSG00000143869 tier1 - - 8 0 0.00 8 7 46.67 GGN 0 genome.wustl.edu 37 19 38877401 38877401 + Silent SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 19 38877401 38877401 G A SNP GGN ENST00000334928 human ensembl 74_37 -1 known silent c.501 p.P167 0.002 NULL NULL - no_errors GGN HGNC ENSG00000179168 tier1 - - 16 0 0.00 8 6 42.86 GIMAP4 0 genome.wustl.edu 37 7 150269569 150269569 + Silent SNP C C A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 7 150269569 150269569 C A SNP GIMAP4 ENST00000255945 human ensembl 74_37 +1 known silent c.411 p.I137 0.019 pfam_AIG1,superfamily_P-loop_NTPase pfam_AIG1,superfamily_P-loop_NTPase - no_errors GIMAP4 HGNC ENSG00000133574 tier1 - - 57 0 0.00 34 10 22.73 GRIFIN 0 genome.wustl.edu 37 7 2515352 2515352 + RNA SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 7 2515352 2515352 C T SNP GRIFIN ENST00000417742 human ensembl 74_37 -1 known rna NULL NULL 0.028 - - - no_errors GRIFIN HGNC ENSG00000236734 tier1 - - 172 0 0.00 132 114 46.15 GRM1 0 genome.wustl.edu 37 6 146480607 146480607 + Missense_Mutation SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 6 146480607 146480607 G A SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known missense c.824 p.R275H 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC ENSG00000152822 31 0 0.00 25 2 7.41 GRM4 0 genome.wustl.edu 37 6 34003798 34003798 + Missense_Mutation SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 6 34003798 34003798 C T SNP GRM4 ENST00000374181 human ensembl 74_37 -1 known missense c.2089 p.A697T 0.993 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_4,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_GABA_rcpt_B - no_errors GRM4 HGNC ENSG00000124493 tier1 - - 61 0 0.00 35 28 44.44 GTF3C3 0 genome.wustl.edu 37 2 197643772 197643772 + Missense_Mutation SNP A A C TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 2 197643772 197643772 A C SNP GTF3C3 ENST00000263956 human ensembl 74_37 -1 known missense c.1238 p.V413G 1.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors GTF3C3 HGNC ENSG00000119041 tier1 - - 97 0 0.00 87 31 26.27 GYPA 0 genome.wustl.edu 37 4 145039887 145039887 + Missense_Mutation SNP G G T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 4 145039887 145039887 G T SNP GYPA ENST00000360771 human ensembl 74_37 -1 known missense c.251 p.A84D 0.000 pfam_Glycophorin,pirsf_Glycophorin pfam_Glycophorin,pirsf_Glycophorin - no_errors GYPA HGNC ENSG00000170180 79 0 0.00 46 3 6.12 HAS1 0 genome.wustl.edu 37 19 52222715 52222715 + Missense_Mutation SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 19 52222715 52222715 C T SNP HAS1 ENST00000601714 human ensembl 74_37 -1 known missense c.467 p.R156H 0.997 NULL pfam_Chitin_synth_fng,pfam_Glyco_trans_2 - no_errors HAS1 HGNC ENSG00000105509 tier1 - - 66 0 0.00 57 8 12.31 HDAC9 0 genome.wustl.edu 37 7 18674345 18674345 + Missense_Mutation SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 7 18674345 18674345 C T SNP HDAC9 ENST00000441542 human ensembl 74_37 +1 known missense c.892 p.P298S 1.000 pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC9 HGNC ENSG00000048052 tier1 - - 131 0 0.00 97 85 46.45 HERC2P4 0 genome.wustl.edu 37 16 32164283 32164283 + RNA SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 16 32164283 32164283 G A SNP HERC2P4 ENST00000563904 human ensembl 74_37 -1 known rna NULL NULL 0.968 - - - no_errors HERC2P4 HGNC ENSG00000230267 tier1 - - 290 0 0.00 153 94 37.90 HIP1 0 genome.wustl.edu 37 7 75183808 75183808 + Missense_Mutation SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 7 75183808 75183808 C T SNP HIP1 ENST00000336926 human ensembl 74_37 -1 known missense c.1981 p.V661I 0.414 NULL pfam_ANTH_dom,pfam_ILWEQ_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Epsin-like_N,smart_ILWEQ_dom,pfscan_Epsin-like_N,pfscan_ILWEQ_dom - no_errors HIP1 HGNC ENSG00000127946 tier1 - - 57 0 0.00 33 24 42.11 HIST1H4K 0 genome.wustl.edu 37 6 27799101 27799101 + Missense_Mutation SNP C C G TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 6 27799101 27799101 C G SNP HIST1H4K ENST00000357549 human ensembl 74_37 -1 known missense c.205 p.D69H 1.000 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4K HGNC ENSG00000197914 tier1 - - 36 0 0.00 27 14 34.15 HIVEP1 0 genome.wustl.edu 37 6 12126085 12126085 + Nonsense_Mutation SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 6 12126085 12126085 G A SNP HIVEP1 ENST00000379388 human ensembl 74_37 +1 known nonsense c.6057 p.W2019* 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 tier1 - - 29 0 0.00 18 18 50.00 HMX3 0 genome.wustl.edu 37 10 124895957 124895957 + Nonsense_Mutation SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 10 124895957 124895957 C T SNP HMX3 ENST00000357878 human ensembl 74_37 +1 known nonsense c.391 p.R131* 0.997 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HMX3 HGNC ENSG00000188620 tier1 - - 30 0 0.00 13 8 38.10 HOXB9 0 genome.wustl.edu 37 17 46700497 46700497 + Missense_Mutation SNP G G T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 17 46700497 46700497 G T SNP HOXB9 ENST00000311177 human ensembl 74_37 -1 known missense c.518 p.T173N 1.000 superfamily_Homeodomain-like,pirsf_Homeobox_Hox9 pfam_Hox9_activation_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Hox9,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXB9 HGNC ENSG00000170689 tier1 - - 44 0 0.00 38 4 9.52 HOXD4 0 genome.wustl.edu 37 2 177016482 177016482 + Missense_Mutation SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 2 177016482 177016482 G A SNP HOXD4 ENST00000306324 human ensembl 74_37 +1 known missense c.121 p.A41T 0.064 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXD4 HGNC ENSG00000170166 tier1 - - 117 0 0.00 87 11 11.11 HS3ST5 0 genome.wustl.edu 37 6 114378489 114378489 + Missense_Mutation SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 6 114378489 114378489 G A SNP HS3ST5 ENST00000312719 human ensembl 74_37 -1 known missense c.973 p.R325C 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST5 HGNC ENSG00000249853 tier1 - - 41 0 0.00 8 12 60.00 HSPA12A 0 genome.wustl.edu 37 10 118435975 118435975 + Missense_Mutation SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 10 118435975 118435975 C T SNP HSPA12A ENST00000369209 human ensembl 74_37 -1 known missense c.1325 p.R442Q 1.000 NULL NULL - no_errors HSPA12A HGNC ENSG00000165868 tier1 - - 59 0 0.00 26 10 27.78 IGSF11 0 genome.wustl.edu 37 3 118621687 118621687 + Missense_Mutation SNP G G T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 3 118621687 118621687 G T SNP IGSF11 ENST00000393775 human ensembl 74_37 -1 known missense c.976 p.P326T 1.000 NULL pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors IGSF11 HGNC ENSG00000144847 tier1 - - 56 0 0.00 39 6 13.33 INHBB 0 genome.wustl.edu 37 2 121106818 121106818 + Missense_Mutation SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 2 121106818 121106818 C T SNP INHBB ENST00000295228 human ensembl 74_37 +1 known missense c.592 p.R198W 1.000 pfam_TGF-b_N,prints_Inhibin_betaB pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaB,prints_Inhibin_asu - no_errors INHBB HGNC ENSG00000163083 tier1 - - 53 0 0.00 27 27 50.00 INPPL1 0 genome.wustl.edu 37 11 71942174 71942174 + Missense_Mutation SNP G G C TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 11 71942174 71942174 G C SNP INPPL1 ENST00000298229 human ensembl 74_37 +1 known missense c.1438 p.E480Q 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,pfam_SH2,pfam_SAM_2,pfam_SAM_type1,superfamily_Endo/exonuclease/phosphatase,superfamily_SAM/pointed,smart_SH2,smart_IPPc,smart_SAM,pfscan_SAM,pfscan_SH2,prints_SH2 - no_errors INPPL1 HGNC ENSG00000165458 tier1 - - 18 0 0.00 9 7 43.75 IRX1 0 genome.wustl.edu 37 5 3599749 3599749 + Silent SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 5 3599749 3599749 C T SNP IRX1 ENST00000302006 human ensembl 74_37 +1 known silent c.687 p.D229 0.994 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX1 HGNC ENSG00000170549 tier1 - - 29 0 0.00 14 8 36.36 JAK3 0 genome.wustl.edu 37 19 17942130 17942130 + Missense_Mutation SNP T T A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 19 17942130 17942130 T A SNP JAK3 ENST00000458235 human ensembl 74_37 -1 known missense c.2885 p.H962L 0.996 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,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors JAK3 HGNC ENSG00000105639 tier1 - - 133 0 0.00 55 26 32.10 JARID2 0 genome.wustl.edu 37 6 15487651 15487651 + Missense_Mutation SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 6 15487651 15487651 C T SNP JARID2 ENST00000341776 human ensembl 74_37 +1 known missense c.784 p.R262W 0.993 NULL pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC ENSG00000008083 tier1 - - 118 0 0.00 56 47 45.63 JPH1 0 genome.wustl.edu 37 8 75227448 75227448 + Missense_Mutation SNP C C A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 8 75227448 75227448 C A SNP JPH1 ENST00000342232 human ensembl 74_37 -1 known missense c.787 p.D263Y 0.993 pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH1 HGNC ENSG00000104369 tier1 - - 75 0 0.00 49 7 12.50 JPH3 0 genome.wustl.edu 37 16 87636607 87636607 + RNA SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 16 87636607 87636607 C T SNP JPH3 ENST00000301008 human ensembl 74_37 +1 known rna NULL NULL 0.943 - - - no_errors JPH3 HGNC ENSG00000154118 tier1 - - 28 0 0.00 20 6 23.08 KCNK1 0 genome.wustl.edu 37 1 233802494 233802494 + Missense_Mutation SNP T T A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 1 233802494 233802494 T A SNP KCNK1 ENST00000366621 human ensembl 74_37 +1 known missense c.509 p.I170N 0.462 pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TWIK1 pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TWIK1,prints_2pore_dom_K_chnl_TWIK,prints_2pore_dom_K_chnl - no_errors KCNK1 HGNC ENSG00000135750 tier1 - - 54 0 0.00 49 15 23.08 KIAA0319 0 genome.wustl.edu 37 6 24547415 24547415 + Missense_Mutation SNP C C A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 6 24547415 24547415 C A SNP KIAA0319 ENST00000378214 human ensembl 74_37 -1 known missense c.3197 p.S1066I 0.983 NULL pfam_PKD/REJ-like,superfamily_PKD_dom,smart_MANSC_N,smart_Fibronectin_type3,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom - no_errors KIAA0319 HGNC ENSG00000137261 tier1 - - 60 0 0.00 34 12 26.09 KIF16B 0 genome.wustl.edu 37 20 16360078 16360078 + Missense_Mutation SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 20 16360078 16360078 C T SNP KIF16B ENST00000408042 human ensembl 74_37 -1 known missense c.2569 p.E857K 0.997 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF16B HGNC ENSG00000089177 tier1 - - 62 0 0.00 32 13 28.89 KMT2D 0 genome.wustl.edu 37 12 49418397 49418397 + Missense_Mutation SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 12 49418397 49418397 G A SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known missense c.16016 p.A5339V 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 tier1 - - 60 0 0.00 60 4 6.25 KRTAP10-7 0 genome.wustl.edu 37 21 46020662 46020663 + Frame_Shift_Ins INS - - GA TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 21 46020662 46020663 - GA INS KRTAP10-7 ENST00000380102 human ensembl 74_37 +1 known frame_shift_ins c.141_142 p.A47fs 0.713:0.752 NULL NULL - no_errors KRTAP10-7 HGNC ENSG00000205441 tier1 66 0 0.00 17 2 10.53 LAMA1 0 genome.wustl.edu 37 18 6959479 6959479 + Missense_Mutation SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 18 6959479 6959479 C T SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.7639 p.V2547I 0.994 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 tier1 - - 73 0 0.00 24 58 70.73 LAMA5 0 genome.wustl.edu 37 20 60912701 60912701 + Silent SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 20 60912701 60912701 C T SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known silent c.2109 p.T703 0.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 tier1 rs143941434 - 51 0 0.00 61 12 16.44 LARS2 0 genome.wustl.edu 37 3 45588891 45588891 + Missense_Mutation SNP C C G TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 3 45588891 45588891 C G SNP LARS2 ENST00000265537 human ensembl 74_37 +1 known missense c.2581 p.R861G 0.989 tigrfam_Leu-tRNA-ligase_bac/mito pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Leu-tRNA-ligase_bac/mito,tigrfam_Leu-tRNA-ligase_bac/mito - no_errors LARS2 HGNC ENSG00000011376 tier1 - - 79 0 0.00 22 29 56.86 LCE2D 0 genome.wustl.edu 37 1 152636848 152636848 + Silent SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 1 152636848 152636848 C T SNP LCE2D ENST00000368784 human ensembl 74_37 +1 known silent c.267 p.P89 0.002 NULL NULL - no_errors LCE2D HGNC ENSG00000187223 tier1 - - 104 0 0.00 93 36 27.91 LEO1 0 genome.wustl.edu 37 15 52254643 52254643 + Missense_Mutation SNP G G T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 15 52254643 52254643 G T SNP LEO1 ENST00000299601 human ensembl 74_37 -1 known missense c.862 p.R288S 1.000 NULL pfam_Leo1 - no_errors LEO1 HGNC ENSG00000166477 tier1 - - 71 0 0.00 67 4 5.63 LIG4 0 genome.wustl.edu 37 13 108861355 108861355 + Missense_Mutation SNP A A T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 13 108861355 108861355 A T SNP LIG4 ENST00000356922 human ensembl 74_37 -1 known missense c.2262 p.F754L 1.000 pfam_DNA_ligase_IV pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_IV,pfam_BRCT_dom,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG4 HGNC ENSG00000174405 tier1 - - 57 0 0.00 18 17 48.57 LINC00905 0 genome.wustl.edu 37 19 16144930 16144930 + RNA SNP G G C TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 19 16144930 16144930 G C SNP LINC00905 ENST00000588838 human ensembl 74_37 +1 known rna NULL NULL 0.498 - - - no_errors LINC00905 HGNC ENSG00000167459 tier1 - - 52 0 0.00 142 8 5.33 LINC00943 0 genome.wustl.edu 37 12 127229599 127229599 + RNA SNP T T C TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 12 127229599 127229599 T C SNP LINC00943 ENST00000345111 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LINC00943 HGNC ENSG00000189238 tier1 - - 66 0 0.00 31 10 24.39 LMTK2 0 genome.wustl.edu 37 7 97821506 97821506 + Missense_Mutation SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 7 97821506 97821506 G A SNP LMTK2 ENST00000297293 human ensembl 74_37 +1 known missense c.1729 p.D577N 0.975 NULL 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK2 HGNC ENSG00000164715 tier1 - - 111 0 0.00 53 39 42.39 LOC101929532 0 genome.wustl.edu 37 2 163027647 163027647 + RNA SNP T T G TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 2 163027647 163027647 T G SNP LOC101929532 ENST00000418968 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AC007750.5 Clone_based_vega_gene ENSG00000236841 tier1 - - 22 0 0.00 8 10 55.56 LOC101929583 0 genome.wustl.edu 37 9 42856234 42856234 + RNA SNP T T C TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 9 42856234 42856234 T C SNP LOC101929583 ENST00000412301 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors AC129778.2 Clone_based_vega_gene ENSG00000184906 tier1 - - 82 0 0.00 8 2 20.00 LOXHD1 0 genome.wustl.edu 37 18 44065079 44065079 + Missense_Mutation SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 18 44065079 44065079 C T SNP LOXHD1 ENST00000536736 human ensembl 74_37 -1 known missense c.5899 p.E1967K 1.000 pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,pfscan_PLAT/LH2_dom pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom - no_errors LOXHD1 HGNC ENSG00000167210 tier1 - - 61 0 0.00 22 11 33.33 LRCH4 0 genome.wustl.edu 37 7 100180051 100180051 + Silent SNP G G C TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 7 100180051 100180051 G C SNP LRCH4 ENST00000310300 human ensembl 74_37 -1 known silent c.252 p.P84 0.005 NULL pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH4 HGNC ENSG00000077454 tier1 - - 83 0 0.00 87 12 12.12 LRP12 0 genome.wustl.edu 37 8 105601095 105601095 + Missense_Mutation SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 8 105601095 105601095 G A SNP LRP12 ENST00000424843 human ensembl 74_37 -1 known missense c.31 p.P11S 1.000 NULL pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 tier1 - - 132 0 0.00 68 88 56.41 LRRC39 0 genome.wustl.edu 37 1 100626108 100626108 + Missense_Mutation SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 1 100626108 100626108 C T SNP LRRC39 ENST00000370138 human ensembl 74_37 -1 known missense c.133 p.E45K 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC39 HGNC ENSG00000122477 tier1 - - 94 0 0.00 28 18 39.13 LRRC4B 0 genome.wustl.edu 37 19 51021013 51021013 + Missense_Mutation SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 19 51021013 51021013 G A SNP LRRC4B ENST00000389201 human ensembl 74_37 -1 known missense c.1957 p.P653S 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRC4B HGNC ENSG00000131409 tier1 - - 33 0 0.00 33 4 10.81 LSP1 0 genome.wustl.edu 37 11 1907990 1907990 + Missense_Mutation SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 11 1907990 1907990 G A SNP LSP1 ENST00000311604 human ensembl 74_37 +1 known missense c.746 p.R249H 0.999 pfam_Caldesmon_LSP,prints_Lymphspecific pfam_Caldesmon_LSP,prints_Lymphspecific - no_errors LSP1 HGNC ENSG00000130592 tier1 rs147990493 - 99 0 0.00 11 45 80.36 LY75 0 genome.wustl.edu 37 2 160734874 160734874 + Missense_Mutation SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 2 160734874 160734874 G A SNP LY75 ENST00000554112 human ensembl 74_37 -1 known missense c.1735 p.R579W 0.120 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors LY75 HGNC ENSG00000054219 tier1 - - 67 0 0.00 45 9 16.67 MAN2B2 0 genome.wustl.edu 37 4 6577022 6577023 + Frame_Shift_Ins INS - - A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 4 6577022 6577023 - A INS MAN2B2 ENST00000285599 human ensembl 74_37 +1 known frame_shift_ins c.85_86 p.A29fs 0.745:0.837 pfam_Glyco_hydro_38_N,superfamily_Glyco_hydro/deAcase_b/a-brl pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2B2 HGNC ENSG00000013288 tier1 9 0 0.00 4 2 33.33 MAP1B 0 genome.wustl.edu 37 5 71495042 71495042 + Missense_Mutation SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 5 71495042 71495042 G A SNP MAP1B ENST00000296755 human ensembl 74_37 +1 known missense c.5860 p.G1954R 0.020 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 tier1 - - 98 0 0.00 31 14 31.11 MICAL2 0 genome.wustl.edu 37 11 12183842 12183842 + Missense_Mutation SNP G G T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 11 12183842 12183842 G T SNP MICAL2 ENST00000256194 human ensembl 74_37 +1 known missense c.140 p.R47I 0.998 NULL pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL2 HGNC ENSG00000133816 tier1 - - 85 0 0.00 44 23 34.33 MLLT4-AS1 0 genome.wustl.edu 37 6 168227370 168227370 + RNA SNP C C A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 6 168227370 168227370 C A SNP MLLT4-AS1 ENST00000359760 human ensembl 74_37 -1 known rna NULL NULL 0.949 - - - no_errors MLLT4-AS1 HGNC ENSG00000198221 tier1 - - 51 0 0.00 19 24 55.81 MT-CO1 0 genome.wustl.edu 37 MT 6267 6267 + Missense_Mutation SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 MT 6267 6267 G A SNP MT-CO1 ENST00000361624 human ensembl 74_37 +1 known missense c.364 p.A122T NULL pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 - no_errors MT-CO1 HGNC ENSG00000198804 tier1 rs202216551 - 145 0 0.00 8 2 20.00 MT-ND5 0 genome.wustl.edu 37 MT 12682 12682 + Nonsense_Mutation SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 MT 12682 12682 C T SNP MT-ND5 ENST00000361567 human ensembl 74_37 +1 known nonsense c.346 p.Q116* NULL pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 tier1 - - 140 0 0.00 0 7 100.00 MT-RNR1 0 genome.wustl.edu 37 MT 1543 1543 + RNA SNP T T A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 MT 1543 1543 T A SNP MT-RNR1 ENST00000389680 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR1 HGNC ENSG00000211459 tier1 - - 149 0 0.00 8 2 20.00 MTERF 0 genome.wustl.edu 37 7 91509448 91509448 + RNA SNP C C A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 7 91509448 91509448 C A SNP MTERF ENST00000481516 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MTERF HGNC ENSG00000127989 tier1 - - 38 0 0.00 17 5 22.73 MVP 0 genome.wustl.edu 37 16 29856136 29856136 + Missense_Mutation SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 16 29856136 29856136 G A SNP MVP ENST00000357402 human ensembl 74_37 +1 known missense c.1957 p.A653T 1.000 NULL pfam_Vault_N,pfam_MVP_shoulder - no_errors MVP HGNC ENSG00000013364 tier1 - - 70 0 0.00 53 18 25.35 MYADM 0 genome.wustl.edu 37 19 54377589 54377589 + Missense_Mutation SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 19 54377589 54377589 G A SNP MYADM ENST00000336967 human ensembl 74_37 +1 known missense c.806 p.G269D 0.771 pfam_Marvel pfam_Marvel - no_errors MYADM HGNC ENSG00000179820 54 0 0.00 50 4 7.41 MYH3 0 genome.wustl.edu 37 17 10542658 10542658 + Missense_Mutation SNP G G T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 17 10542658 10542658 G T SNP MYH3 ENST00000226209 human ensembl 74_37 -1 known missense c.3059 p.S1020Y 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC ENSG00000109063 tier1 - - 76 0 0.00 32 4 11.11 NACA 0 genome.wustl.edu 37 12 57106389 57106389 + RNA SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 12 57106389 57106389 C T SNP NACA ENST00000548386 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors NACA HGNC ENSG00000196531 tier1 - - 83 0 0.00 38 7 15.56 NACA 0 genome.wustl.edu 37 12 57106408 57106408 + RNA SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 12 57106408 57106408 C T SNP NACA ENST00000548386 human ensembl 74_37 -1 known rna NULL NULL 0.299 - - - no_errors NACA HGNC ENSG00000196531 tier1 - - 64 0 0.00 31 6 16.22 NAPB 0 genome.wustl.edu 37 20 23383645 23383645 + Missense_Mutation SNP C C G TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 20 23383645 23383645 C G SNP NAPB ENST00000377026 human ensembl 74_37 -1 known missense c.163 p.A55P 1.000 prints_NSF_attach prints_NSF_attach - no_errors NAPB HGNC ENSG00000125814 tier1 - - 88 0 0.00 57 18 24.00 NAT8L 0 genome.wustl.edu 37 4 2065507 2065507 + Missense_Mutation SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 4 2065507 2065507 G A SNP NAT8L ENST00000423729 human ensembl 74_37 +1 known missense c.562 p.V188M 1.000 superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAT8L HGNC ENSG00000185818 tier1 - - 67 0 0.00 21 28 56.00 NEB 0 genome.wustl.edu 37 2 152466583 152466583 + Nonsense_Mutation SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 2 152466583 152466583 G A SNP NEB ENST00000397345 human ensembl 74_37 -1 known nonsense c.12070 p.Q4024* 0.986 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 tier1 - - 55 0 0.00 33 18 35.29 NEUROD4 0 genome.wustl.edu 37 12 55421010 55421010 + Missense_Mutation SNP T T G TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 12 55421010 55421010 T G SNP NEUROD4 ENST00000242994 human ensembl 74_37 +1 known missense c.787 p.F263V 1.000 pfam_Neurogenic_DUF,pirsf_TF_bHLH_NeuroD pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom - no_errors NEUROD4 HGNC ENSG00000123307 tier1 - - 68 0 0.00 47 8 14.55 NHLRC3 0 genome.wustl.edu 37 13 39613842 39613842 + Missense_Mutation SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 13 39613842 39613842 G A SNP NHLRC3 ENST00000379600 human ensembl 74_37 +1 known missense c.379 p.G127R 1.000 NULL pfam_NHL_repeat,pfscan_NHL_repeat_subgr - no_errors NHLRC3 HGNC ENSG00000188811 tier1 - - 99 0 0.00 128 22 14.57 NIT1 0 genome.wustl.edu 37 1 161088851 161088851 + RNA SNP A A T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 1 161088851 161088851 A T SNP NIT1 ENST00000461376 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NIT1 HGNC ENSG00000158793 tier1 - - 26 0 0.00 21 18 45.00 NKRF 0 genome.wustl.edu 37 X 118723469 118723469 + Missense_Mutation SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 X 118723469 118723469 G A SNP NKRF ENST00000542113 human ensembl 74_37 -1 known missense c.1964 p.A655V 1.000 pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd pfam_G_patch_dom,pfam_R3H_ss-bd,smart_dsRNA-bd_dom,smart_G_patch_dom,smart_R3H_ss-bd,pfscan_G_patch_dom,pfscan_R3H_ss-bd - no_errors NKRF HGNC ENSG00000186416 tier1 - - 21 0 0.00 5 34 87.18 NLRC3 0 genome.wustl.edu 37 16 3614982 3614982 + Missense_Mutation SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 16 3614982 3614982 C T SNP NLRC3 ENST00000448023 human ensembl 74_37 -1 known missense c.197 p.G66D 0.590 NULL superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRC3 HGNC ENSG00000167984 17 0 0.00 17 4 19.05 NME8 0 genome.wustl.edu 37 7 37896931 37896931 + Missense_Mutation SNP T T A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 7 37896931 37896931 T A SNP NME8 ENST00000199447 human ensembl 74_37 +1 known missense c.254 p.V85D 0.993 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase - no_errors NME8 HGNC ENSG00000086288 tier1 - - 42 0 0.00 32 13 28.89 NOX4 0 genome.wustl.edu 37 11 89224050 89224050 + Missense_Mutation SNP G G T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 11 89224050 89224050 G T SNP NOX4 ENST00000413594 human ensembl 74_37 -1 known missense c.91 p.L31I 0.009 NULL pfam_Fe_red_NAD-bd_6,pfam_Fe3_Rdtase_TM_dom,pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX4 HGNC ENSG00000086991 tier1 - - 19 0 0.00 0 4 100.00 NUDT8 0 genome.wustl.edu 37 11 67395621 67395621 + Silent SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 11 67395621 67395621 G A SNP NUDT8 ENST00000376693 human ensembl 74_37 -1 known silent c.507 p.P169 0.048 superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT8 HGNC ENSG00000167799 tier1 - - 54 0 0.00 41 387 90.42 NUP153 0 genome.wustl.edu 37 6 17675153 17675153 + Nonsense_Mutation SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 6 17675153 17675153 G A SNP NUP153 ENST00000537253 human ensembl 74_37 -1 known nonsense c.835 p.R279* 0.338 pfam_Nucleoporin_Nup153 pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors NUP153 HGNC ENSG00000124789 tier1 - - 115 0 0.00 89 14 13.59 NUP188 0 genome.wustl.edu 37 9 131742885 131742885 + Missense_Mutation SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 9 131742885 131742885 G A SNP NUP188 ENST00000372577 human ensembl 74_37 +1 known missense c.1270 p.E424K 1.000 pfam_Nucleoporin_Nup188 pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold - no_errors NUP188 HGNC ENSG00000095319 tier1 - - 113 0 0.00 107 10 8.55 OR4P4 0 genome.wustl.edu 37 11 55406281 55406281 + Nonsense_Mutation SNP G G T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 11 55406281 55406281 G T SNP OR4P4 ENST00000314612 human ensembl 74_37 +1 known nonsense c.448 p.G150* 0.565 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4P4 HGNC ENSG00000181927 tier1 - - 52 0 0.00 2 32 94.12 OR52E8 0 genome.wustl.edu 37 11 5878912 5878912 + Silent SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 11 5878912 5878912 C T SNP OR52E8 ENST00000537935 human ensembl 74_37 -1 known silent c.21 p.T7 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52E8 HGNC ENSG00000183269 tier1 - - 62 0 0.00 6 26 81.25 OR5L2 0 genome.wustl.edu 37 11 55595135 55595135 + Nonsense_Mutation SNP C C A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 11 55595135 55595135 C A SNP OR5L2 ENST00000378397 human ensembl 74_37 +1 known nonsense c.441 p.C147* 0.010 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5L2 HGNC ENSG00000205030 tier1 - - 62 0 0.00 30 17 36.17 OTOF 0 genome.wustl.edu 37 2 26698861 26698861 + Missense_Mutation SNP C C A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 2 26698861 26698861 C A SNP OTOF ENST00000272371 human ensembl 74_37 -1 known missense c.2912 p.S971I 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors OTOF HGNC ENSG00000115155 tier1 - - 99 0 0.00 84 30 26.32 OTOG 0 genome.wustl.edu 37 11 17634199 17634199 + Missense_Mutation SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 11 17634199 17634199 G A SNP OTOG ENST00000399391 human ensembl 74_37 +1 known missense c.6361 p.V2121M 0.979 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_AbfB,pfam_TIL_dom,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom - no_errors OTOG HGNC ENSG00000188162 tier1 - - 77 0 0.00 6 32 84.21 PATL2 0 genome.wustl.edu 37 15 44961491 44961491 + Nonsense_Mutation SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 15 44961491 44961491 G A SNP PATL2 ENST00000434130 human ensembl 74_37 -1 known nonsense c.1051 p.Q351* 0.999 pfam_Topo_II-assoc_PAT1 pfam_Topo_II-assoc_PAT1 - no_errors PATL2 HGNC ENSG00000229474 36 0 0.00 35 8 18.60 PCGF2 0 genome.wustl.edu 37 17 36892390 36892390 + Missense_Mutation SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 17 36892390 36892390 C T SNP PCGF2 ENST00000360797 human ensembl 74_37 -1 known missense c.610 p.E204K 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PCGF2 HGNC ENSG00000056661 tier1 - - 29 0 0.00 37 21 36.21 PCGF2 0 genome.wustl.edu 37 17 36892391 36892391 + Nonsense_Mutation SNP C C A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 17 36892391 36892391 C A SNP PCGF2 ENST00000579882 human ensembl 74_37 -1 putative nonsense c.613 p.G205* 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PCGF2 HGNC ENSG00000056661 tier1 - - 29 0 0.00 37 21 36.21 PCOLCE2 0 genome.wustl.edu 37 3 142561781 142561781 + Silent SNP T T A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 3 142561781 142561781 T A SNP PCOLCE2 ENST00000295992 human ensembl 74_37 -1 known silent c.558 p.V186 0.992 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Netrin_module_non-TIMP,superfamily_CUB_dom,superfamily_TIMP-like_OB-fold,smart_CUB_dom,smart_Netrin_module_non-TIMP,pfscan_CUB_dom,pfscan_Netrin_domain - no_errors PCOLCE2 HGNC ENSG00000163710 tier1 - - 63 0 0.00 64 17 20.99 PFKFB1 0 genome.wustl.edu 37 X 54961428 54961428 + Missense_Mutation SNP G G T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 X 54961428 54961428 G T SNP PFKFB1 ENST00000375006 human ensembl 74_37 -1 known missense c.1243 p.L415I 1.000 pirsf_Bifunct_6PFK/fruc_bisP_Ptase pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin - no_errors PFKFB1 HGNC ENSG00000158571 tier1 - - 33 0 0.00 31 4 11.43 PHTF1 0 genome.wustl.edu 37 1 114269063 114269063 + Silent SNP T T C TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 1 114269063 114269063 T C SNP PHTF1 ENST00000369604 human ensembl 74_37 -1 known silent c.465 p.G155 0.994 pfam_TF_homeodomain_male pfam_TF_homeodomain_male - no_errors PHTF1 HGNC ENSG00000116793 tier1 - - 62 0 0.00 7 20 74.07 PI4KA 0 genome.wustl.edu 37 22 21157593 21157593 + Missense_Mutation SNP A A T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 22 21157593 21157593 A T SNP PI4KA ENST00000255882 human ensembl 74_37 -1 known missense c.1477 p.C493S 1.000 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KA HGNC ENSG00000241973 tier1 - - 71 0 0.00 71 13 15.48 PIEZO1 0 genome.wustl.edu 37 16 88787614 88787614 + Silent SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 16 88787614 88787614 C T SNP PIEZO1 ENST00000301015 human ensembl 74_37 -1 novel silent c.5628 p.R1876 0.190 NULL pfam_Piezo - no_errors PIEZO1 HGNC ENSG00000103335 80 0 0.00 57 5 8.06 PIN1P1 0 genome.wustl.edu 37 1 70385058 70385058 + RNA SNP C C A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 1 70385058 70385058 C A SNP PIN1P1 ENST00000412108 human ensembl 74_37 +1 known rna NULL NULL 0.646 - - - no_errors PIN1P1 HGNC ENSG00000229359 tier1 - - 85 0 0.00 40 18 31.03 PLCE1 0 genome.wustl.edu 37 10 96039597 96039597 + Missense_Mutation SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 10 96039597 96039597 G A SNP PLCE1 ENST00000260766 human ensembl 74_37 +1 known missense c.4724 p.R1575Q 0.467 superfamily_PLC-like_Pdiesterase_TIM-brl pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC ENSG00000138193 tier1 - - 68 0 0.00 60 14 18.92 PLCH1 0 genome.wustl.edu 37 3 155198837 155198837 + Missense_Mutation SNP A A T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 3 155198837 155198837 A T SNP PLCH1 ENST00000340059 human ensembl 74_37 -1 known missense c.5002 p.F1668I 0.049 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC ENSG00000114805 tier1 - - 80 0 0.00 47 10 17.54 PLEKHA6 0 genome.wustl.edu 37 1 204192692 204192692 + Missense_Mutation SNP G G T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 1 204192692 204192692 G T SNP PLEKHA6 ENST00000272203 human ensembl 74_37 -1 known missense c.3053 p.P1018H 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA6 HGNC ENSG00000143850 tier1 - - 119 0 0.00 54 79 59.40 PLXDC1 0 genome.wustl.edu 37 17 37288207 37288207 + RNA SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 17 37288207 37288207 G A SNP PLXDC1 ENST00000493200 human ensembl 74_37 -1 known rna NULL NULL 0.008 - - - no_errors PLXDC1 HGNC ENSG00000161381 tier1 - - 71 0 0.00 152 1023 86.99 PLXDC1 0 genome.wustl.edu 37 17 37288288 37288288 + RNA SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 17 37288288 37288288 G A SNP PLXDC1 ENST00000493200 human ensembl 74_37 -1 known rna NULL NULL 0.008 - - - no_errors PLXDC1 HGNC ENSG00000161381 tier1 rs201621484 - 65 0 0.00 141 901 86.47 PLXDC1 0 genome.wustl.edu 37 17 37309219 37309219 + RNA SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 17 37309219 37309219 C T SNP PLXDC1 ENST00000577941 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors PLXDC1 HGNC ENSG00000161381 tier1 - - 58 0 0.00 119 519 81.35 PLXNA4 0 genome.wustl.edu 37 7 131825389 131825389 + Missense_Mutation SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 7 131825389 131825389 C T SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known missense c.5407 p.D1803N 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA4 HGNC ENSG00000221866 tier1 - - 116 0 0.00 46 33 41.77 PNISR 0 genome.wustl.edu 37 6 99849058 99849058 + Missense_Mutation SNP T T G TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 6 99849058 99849058 T G SNP PNISR ENST00000369239 human ensembl 74_37 -1 known missense c.1776 p.R592S 1.000 NULL NULL - no_errors PNISR HGNC ENSG00000132424 tier1 - - 58 0 0.00 21 18 46.15 POTEH-AS1 0 genome.wustl.edu 37 22 16277955 16277955 + RNA SNP A A G TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 22 16277955 16277955 A G SNP POTEH-AS1 ENST00000422014 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors POTEH-AS1 HGNC ENSG00000236666 tier1 - - 24 0 0.00 7 3 30.00 POU6F2 0 genome.wustl.edu 37 7 39379547 39379547 + Missense_Mutation SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 7 39379547 39379547 C T SNP POU6F2 ENST00000403058 human ensembl 74_37 +1 known missense c.818 p.P273L 1.000 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU6F2 HGNC ENSG00000106536 tier1 rs144939808 - 55 0 0.00 34 57 62.64 PRAMEF2 0 genome.wustl.edu 37 1 12918962 12918962 + Missense_Mutation SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 1 12918962 12918962 G A SNP PRAMEF2 ENST00000240189 human ensembl 74_37 +1 known missense c.98 p.R33K 0.000 NULL NULL - no_errors PRAMEF2 HGNC ENSG00000120952 tier1 - - 155 0 0.00 60 35 36.84 PRDM15 0 genome.wustl.edu 37 21 43274682 43274682 + Silent SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 21 43274682 43274682 G A SNP PRDM15 ENST00000269844 human ensembl 74_37 -1 known silent c.1629 p.G543 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM15 HGNC ENSG00000141956 82 0 0.00 46 3 6.12 PREX2 0 genome.wustl.edu 37 8 68993013 68993013 + Silent SNP A A T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 8 68993013 68993013 A T SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known silent c.1818 p.G606 0.442 superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 tier1 - - 137 0 0.00 104 33 24.09 PRIMA1 0 genome.wustl.edu 37 14 94187802 94187802 + Silent SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 14 94187802 94187802 G A SNP PRIMA1 ENST00000393140 human ensembl 74_37 -1 known silent c.450 p.N150 0.929 NULL NULL - no_errors PRIMA1 HGNC ENSG00000175785 tier1 - - 44 0 0.00 19 9 32.14 PRKRIR 0 genome.wustl.edu 37 11 76072076 76072076 + Missense_Mutation SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 11 76072076 76072076 G A SNP PRKRIR ENST00000260045 human ensembl 74_37 -1 known missense c.242 p.A81V 1.000 pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH pfam_Znf_C2CH,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors PRKRIR HGNC ENSG00000137492 108 0 0.00 52 5 8.77 PRSS3 0 genome.wustl.edu 37 9 33798037 33798037 + Silent SNP T T C TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 9 33798037 33798037 T C SNP PRSS3 ENST00000361005 human ensembl 74_37 +1 known silent c.582 p.T194 0.688 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 PRSS3 HGNC ENSG00000010438 64 0 0.00 38 4 9.52 PSD3 0 genome.wustl.edu 37 8 18541566 18541566 + RNA SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 8 18541566 18541566 C T SNP PSD3 ENST00000521878 human ensembl 74_37 -1 known rna NULL NULL 0.846 - - - no_errors PSD3 HGNC ENSG00000156011 tier1 - - 25 0 0.00 3 9 75.00 PSME2 0 genome.wustl.edu 37 14 24612868 24612868 + Missense_Mutation SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 14 24612868 24612868 C T SNP PSME2 ENST00000216802 human ensembl 74_37 -1 known missense c.565 p.A189T 1.000 pfam_Proteasome_activ_pa28_C,superfamily_Proteasome_activ_pa28 pfam_Proteasome_activ_pa28_C,pfam_Proteasome_activ_pa28_N,superfamily_Proteasome_activ_pa28 - no_errors PSME2 HGNC ENSG00000100911 tier1 - - 61 0 0.00 31 11 26.19 PTEN 0 genome.wustl.edu 37 10 89711968 89711968 + Missense_Mutation SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 10 89711968 89711968 C T SNP PTEN ENST00000371953 human ensembl 74_37 +1 known missense c.586 p.H196Y 1.000 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 33 0 0.00 35 2 5.41 PTPRN2 0 genome.wustl.edu 37 7 157903567 157903567 + Missense_Mutation SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 7 157903567 157903567 C T SNP PTPRN2 ENST00000404321 human ensembl 74_37 -1 known missense c.1666 p.V556I 0.000 pfam_Receptor_IA-2 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN2 HGNC ENSG00000155093 tier1 - - 61 0 0.00 32 25 43.86 PTPRZ1 0 genome.wustl.edu 37 7 121659264 121659264 + Missense_Mutation SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 7 121659264 121659264 G A SNP PTPRZ1 ENST00000393386 human ensembl 74_37 +1 known missense c.4930 p.V1644M 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRZ1 HGNC ENSG00000106278 tier1 - - 100 0 0.00 59 40 40.40 RAB3GAP1 0 genome.wustl.edu 37 2 135911238 135911238 + Missense_Mutation SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 2 135911238 135911238 C T SNP RAB3GAP1 ENST00000264158 human ensembl 74_37 +1 known missense c.2081 p.S694F 0.082 NULL NULL - no_errors RAB3GAP1 HGNC ENSG00000115839 tier1 - - 57 0 0.00 55 10 15.38 RABL5 0 genome.wustl.edu 37 7 100962252 100962252 + Missense_Mutation SNP G G T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 7 100962252 100962252 G T SNP RABL5 ENST00000315322 human ensembl 74_37 -1 known missense c.101 p.P34Q 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_MIRO-like,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_MIRO-like,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase - no_errors RABL5 HGNC ENSG00000128581 61 0 0.00 73 4 5.19 RAD9A 0 genome.wustl.edu 37 11 67165003 67165003 + Silent SNP G G T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 11 67165003 67165003 G T SNP RAD9A ENST00000307980 human ensembl 74_37 +1 known silent c.1149 p.L383 1.000 pirsf_Rad9 pfam_Rad9/Ddc1,pirsf_Rad9 - no_errors RAD9A HGNC ENSG00000172613 48 0 0.00 24 9 27.27 RCAN3 0 genome.wustl.edu 37 1 24857853 24857853 + Missense_Mutation SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 1 24857853 24857853 G A SNP RCAN3 ENST00000374395 human ensembl 74_37 +1 known missense c.341 p.G114E 1.000 pfam_Calcipressin pfam_Calcipressin - no_errors RCAN3 HGNC ENSG00000117602 tier1 - - 60 0 0.00 26 17 39.53 REEP3 0 genome.wustl.edu 37 10 65359025 65359025 + Silent SNP T T A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 10 65359025 65359025 T A SNP REEP3 ENST00000373758 human ensembl 74_37 +1 known silent c.399 p.A133 0.256 NULL pfam_TB2_DP1_HVA22 - no_errors REEP3 HGNC ENSG00000165476 41 0 0.00 38 7 15.56 RIC8A 0 genome.wustl.edu 37 11 209369 209369 + Missense_Mutation SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 11 209369 209369 G A SNP RIC8A ENST00000527696 human ensembl 74_37 +1 putative missense c.77 p.R26K 0.001 NULL pfam_Gua_nucleotide_exch_fac_Ric8,superfamily_ARM-type_fold,prints_Synembryn - no_errors RIC8A HGNC ENSG00000177963 tier1 - - 94 0 0.00 8 47 85.45 RN7SL185P 0 genome.wustl.edu 37 15 32686600 32686600 + RNA SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 15 32686600 32686600 C T SNP RN7SL185P ENST00000492212 human ensembl 74_37 -1 known rna NULL NULL 0.046 - - - no_errors RN7SL185P HGNC ENSG00000241459 tier1 - - 55 0 0.00 36 6 14.29 RNF19B 0 genome.wustl.edu 37 1 33412075 33412075 + Silent SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 1 33412075 33412075 C T SNP RNF19B ENST00000373456 human ensembl 74_37 -1 known silent c.1077 p.V359 0.997 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors RNF19B HGNC ENSG00000116514 tier1 - - 69 0 0.00 22 12 35.29 RNLS 0 genome.wustl.edu 37 10 90074274 90074274 + Silent SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 10 90074274 90074274 C T SNP RNLS ENST00000331772 human ensembl 74_37 -1 known silent c.825 p.P275 0.993 pfam_Amino_oxidase pfam_Amino_oxidase - no_errors RNLS HGNC ENSG00000184719 tier1 rs201629674 - 109 0 0.00 52 25 32.47 RNLS 0 genome.wustl.edu 37 10 90342968 90342968 + RNA SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 10 90342968 90342968 C T SNP RNLS ENST00000466945 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RNLS HGNC ENSG00000184719 tier1 - - 41 0 0.00 22 14 38.89 RP1 0 genome.wustl.edu 37 8 55542526 55542526 + Silent SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 8 55542526 55542526 G A SNP RP1 ENST00000220676 human ensembl 74_37 +1 known silent c.6084 p.L2028 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 tier1 - - 73 0 0.00 46 20 30.30 RPAP1 0 genome.wustl.edu 37 15 41819264 41819264 + Silent SNP G G T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 15 41819264 41819264 G T SNP RPAP1 ENST00000304330 human ensembl 74_37 -1 known silent c.1749 p.V583 0.701 NULL pfam_RNA_pol_II_AP1_C,pfam_RNA_pol_II_AP1_N,superfamily_ARM-type_fold - no_errors RPAP1 HGNC ENSG00000103932 tier1 - - 46 0 0.00 34 4 10.53 RPL23 0 genome.wustl.edu 37 17 37008985 37008985 + Missense_Mutation SNP C C G TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 17 37008985 37008985 C G SNP RPL23 ENST00000479035 human ensembl 74_37 -1 known missense c.98 p.G33A 1.000 pfam_Ribosomal_L14b/L23e,superfamily_Ribosomal_L14_dom pfam_Ribosomal_L14b/L23e,superfamily_Ribosomal_L14_dom - no_errors RPL23 HGNC ENSG00000125691 tier1 - - 51 0 0.00 95 716 88.18 RRAGC 0 genome.wustl.edu 37 1 39325198 39325200 + In_Frame_Del DEL CCG CCG - TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 CCG CCG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 1 39325198 39325200 CCG 0 DEL RRAGC ENST00000373001 human ensembl 74_37 -1 known in_frame_del c.121_119 p.A40in_frame_del 0.904:0.792:0.805 NULL pfam_Gtr1_RagA,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase - no_errors RRAGC HGNC ENSG00000116954 26 0 0.00 4 2 33.33 RYR2 0 genome.wustl.edu 37 1 237947132 237947132 + Missense_Mutation SNP G G C TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 1 237947132 237947132 G C SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.12138 p.K4046N 0.994 pfscan_EF_hand_dom pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 tier1 - - 43 0 0.00 53 5 8.47 RYR3 0 genome.wustl.edu 37 15 33954404 33954404 + Missense_Mutation SNP A A C TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 15 33954404 33954404 A C SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.4673 p.H1558P 1.000 NULL pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 tier1 - - 41 0 0.00 19 9 32.14 SALL1 0 genome.wustl.edu 37 16 51174769 51174769 + Missense_Mutation SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 16 51174769 51174769 G A SNP SALL1 ENST00000251020 human ensembl 74_37 -1 known missense c.1364 p.A455V 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 tier1 - - 63 0 0.00 20 31 60.78 SALL1 0 genome.wustl.edu 37 16 51175993 51175993 + Missense_Mutation SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 16 51175993 51175993 C T SNP SALL1 ENST00000251020 human ensembl 74_37 -1 known missense c.140 p.R47Q 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 tier1 - - 85 0 0.00 36 27 42.86 SAV1 0 genome.wustl.edu 37 14 51107485 51107485 + Silent SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 14 51107485 51107485 G A SNP SAV1 ENST00000324679 human ensembl 74_37 -1 known silent c.933 p.Y311 1.000 NULL pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_SARAH_dom,pfscan_WW_dom - no_errors SAV1 HGNC ENSG00000151748 tier1 - - 111 0 0.00 50 16 24.24 SCN8A 0 genome.wustl.edu 37 12 52099240 52099240 + Missense_Mutation SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 12 52099240 52099240 G A SNP SCN8A ENST00000354534 human ensembl 74_37 +1 known missense c.1174 p.V392I 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN8A HGNC ENSG00000196876 tier1 - - 85 0 0.00 40 31 43.66 SGSM3 0 genome.wustl.edu 37 22 40802502 40802502 + Missense_Mutation SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 22 40802502 40802502 C T SNP SGSM3 ENST00000248929 human ensembl 74_37 +1 known missense c.1021 p.P341S 1.000 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_Rab-GTPase-TBC_dom,superfamily_SH3_domain,smart_Rab-GTPase-TBC_dom,smart_SH3_domain,smart_Run,pfscan_Run,pfscan_SH3_domain,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM3 HGNC ENSG00000100359 63 0 0.00 67 4 5.63 SHKBP1 0 genome.wustl.edu 37 19 41096671 41096671 + Missense_Mutation SNP C C A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 19 41096671 41096671 C A SNP SHKBP1 ENST00000291842 human ensembl 74_37 +1 known missense c.1804 p.L602M 1.000 NULL pfam_T1-type_BTB,pfam_WD40_repeat,superfamily_BTB/POZ_fold,superfamily_WD40_repeat_dom,smart_BTB/POZ-like,smart_WD40_repeat,pfscan_BTB/POZ-like - no_errors SHKBP1 HGNC ENSG00000160410 tier1 - - 79 0 0.00 42 16 27.59 SKAP2 0 genome.wustl.edu 37 7 26779515 26779515 + Missense_Mutation SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 7 26779515 26779515 G A SNP SKAP2 ENST00000345317 human ensembl 74_37 -1 known missense c.376 p.R126C 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,prints_SH3_domain - no_errors SKAP2 HGNC ENSG00000005020 tier1 - - 136 0 0.00 151 20 11.70 SLC10A7 0 genome.wustl.edu 37 4 147442807 147442807 + Silent SNP A A G TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 4 147442807 147442807 A G SNP SLC10A7 ENST00000394062 human ensembl 74_37 -1 known silent c.63 p.A21 0.042 pirsf_Put_Na-Bile_cotransptr pfam_BilAc/Na_symport,pirsf_Put_Na-Bile_cotransptr - no_errors SLC10A7 HGNC ENSG00000120519 tier1 - - 80 0 0.00 21 38 64.41 SLC12A5 0 genome.wustl.edu 37 20 44681697 44681697 + Missense_Mutation SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 20 44681697 44681697 G A SNP SLC12A5 ENST00000454036 human ensembl 74_37 +1 known missense c.2548 p.D850N 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A5 HGNC ENSG00000124140 tier1 - - 46 0 0.00 25 13 34.21 SLC1A6 0 genome.wustl.edu 37 19 15061158 15061158 + Missense_Mutation SNP C C G TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 19 15061158 15061158 C G SNP SLC1A6 ENST00000221742 human ensembl 74_37 -1 known missense c.1544 p.G515A 0.997 pfam_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A6 HGNC ENSG00000105143 tier1 - - 43 0 0.00 134 16 10.67 SLC24A2 0 genome.wustl.edu 37 9 19516162 19516162 + Missense_Mutation SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 9 19516162 19516162 C T SNP SLC24A2 ENST00000341998 human ensembl 74_37 -1 known missense c.1975 p.V659I 0.996 NULL pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A2 HGNC ENSG00000155886 tier1 rs138630242 - 58 0 0.00 35 12 25.53 SLC47A1 0 genome.wustl.edu 37 17 19451353 19451353 + Missense_Mutation SNP T T C TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 17 19451353 19451353 T C SNP SLC47A1 ENST00000395585 human ensembl 74_37 +1 known missense c.362 p.L121P 0.997 pfam_MATE,tigrfam_MATE pfam_MATE,tigrfam_MATE - no_errors SLC47A1 HGNC ENSG00000142494 tier1 - - 60 0 0.00 9 12 57.14 SLC4A8 0 genome.wustl.edu 37 12 51855063 51855063 + Missense_Mutation SNP C C G TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 12 51855063 51855063 C G SNP SLC4A8 ENST00000453097 human ensembl 74_37 +1 known missense c.1089 p.I363M 1.000 pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A8 HGNC ENSG00000050438 tier1 - - 50 0 0.00 28 4 12.50 SLCO1C1 0 genome.wustl.edu 37 12 20885992 20885992 + Missense_Mutation SNP G G T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 12 20885992 20885992 G T SNP SLCO1C1 ENST00000381552 human ensembl 74_37 +1 known missense c.1336 p.G446C 1.000 pfam_OA_transporter,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO1C1 HGNC ENSG00000139155 tier1 - - 77 0 0.00 61 5 7.46 SLFN12 0 genome.wustl.edu 37 17 33738520 33738520 + Missense_Mutation SNP G G T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 17 33738520 33738520 G T SNP SLFN12 ENST00000304905 human ensembl 74_37 -1 known missense c.1574 p.T525K 0.000 NULL pfam_ATPase_AAA-4 - no_errors SLFN12 HGNC ENSG00000172123 tier1 - - 104 0 0.00 62 4 6.06 SNX18 0 genome.wustl.edu 37 5 53814766 53814766 + Silent SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 5 53814766 53814766 G A SNP SNX18 ENST00000326277 human ensembl 74_37 +1 known silent c.984 p.P328 0.138 pfam_Phox,superfamily_Phox,smart_Phox,pirsf_Snx9,pfscan_Phox pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain - no_errors SNX18 HGNC ENSG00000178996 tier1 - - 88 0 0.00 10 30 75.00 SOCS6 0 genome.wustl.edu 37 18 67992659 67992659 + Missense_Mutation SNP C C A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 18 67992659 67992659 C A SNP SOCS6 ENST00000397942 human ensembl 74_37 +1 known missense c.755 p.A252E 0.916 NULL pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS6 HGNC ENSG00000170677 49 0 0.00 26 2 6.90 SON 0 genome.wustl.edu 37 21 34927065 34927065 + Missense_Mutation SNP C C A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 21 34927065 34927065 C A SNP SON ENST00000356577 human ensembl 74_37 +1 known missense c.5528 p.S1843Y 1.000 NULL pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_dsRNA-bd_dom - no_errors SON HGNC ENSG00000159140 tier1 - - 34 0 0.00 14 24 63.16 SOX11 0 genome.wustl.edu 37 2 5833526 5833528 + In_Frame_Del DEL GAC GAC - TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 GAC GAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 2 5833526 5833528 GAC - DEL SOX11 ENST00000322002 human ensembl 74_37 +1 known in_frame_del c.673_675 p.D228in_frame_del 1.000:1.000:0.999 pirsf_SOX-12/11/4a pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom - no_errors SOX11 HGNC ENSG00000176887 tier1 19 0 0.00 16 3 15.79 SRL 0 genome.wustl.edu 37 16 4245563 4245563 + Missense_Mutation SNP G G T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 16 4245563 4245563 G T SNP SRL ENST00000399609 human ensembl 74_37 -1 known missense c.601 p.Q201K 1.000 pfam_Dynamin_GTPase,pfam_GTP_binding_domain,superfamily_P-loop_NTPase pfam_Dynamin_GTPase,pfam_GTP_binding_domain,superfamily_P-loop_NTPase - no_errors SRL HGNC ENSG00000185739 tier1 - - 76 0 0.00 34 13 27.66 SSR1 0 genome.wustl.edu 37 6 7288157 7288158 + Splice_Site INS - - A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 6 7288157 7288158 - A INS SSR1 ENST00000475213 human ensembl 74_37 -1 known splice_site_ins c.NULL NULL 0.292:0.226 - - - no_errors SSR1 HGNC ENSG00000124783 tier1 22 0 0.00 27 3 10.00 ST6GAL2 0 genome.wustl.edu 37 2 107459702 107459702 + Silent SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 2 107459702 107459702 G A SNP ST6GAL2 ENST00000361686 human ensembl 74_37 -1 known silent c.732 p.A244 0.000 NULL pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl - no_errors ST6GAL2 HGNC ENSG00000144057 33 0 0.00 18 3 14.29 STAP2 0 genome.wustl.edu 37 19 4333712 4333712 + Silent SNP C C A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 19 4333712 4333712 C A SNP STAP2 ENST00000600324 human ensembl 74_37 -1 known silent c.276 p.R92 0.000 NULL pfscan_SH2 - no_errors STAP2 HGNC ENSG00000178078 66 0 0.00 35 2 5.41 STK33 0 genome.wustl.edu 37 11 8494768 8494768 + Missense_Mutation SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 11 8494768 8494768 C T SNP STK33 ENST00000315204 human ensembl 74_37 -1 known missense c.281 p.G94D 0.007 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STK33 HGNC ENSG00000130413 77 0 0.00 45 3 6.12 SYMPK 0 genome.wustl.edu 37 19 46330851 46330851 + Nonsense_Mutation SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 19 46330851 46330851 G A SNP SYMPK ENST00000245934 human ensembl 74_37 -1 known nonsense c.2098 p.R700* 0.961 superfamily_ARM-type_fold pfam_DUF3453,pfam_Symplekin_C,superfamily_ARM-type_fold - no_errors SYMPK HGNC ENSG00000125755 tier1 - - 88 0 0.00 55 25 31.25 SYNE1 0 genome.wustl.edu 37 6 152644758 152644758 + Missense_Mutation SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 6 152644758 152644758 C T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.15772 p.V5258I 0.000 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 - - 39 0 0.00 10 17 62.96 SYNGR1 0 genome.wustl.edu 37 22 39760253 39760253 + Silent SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 22 39760253 39760253 C T SNP SYNGR1 ENST00000381535 human ensembl 74_37 +1 known silent c.54 p.S18 0.069 NULL pfam_Marvel - no_errors SYNGR1 HGNC ENSG00000100321 tier1 rs151233936 - 78 0 0.00 71 4 5.33 SYT9 0 genome.wustl.edu 37 11 7334873 7334873 + Missense_Mutation SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 11 7334873 7334873 G A SNP SYT9 ENST00000318881 human ensembl 74_37 +1 known missense c.745 p.A249T 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT9 HGNC ENSG00000170743 53 0 0.00 32 3 8.57 TAF5L 0 genome.wustl.edu 37 1 229730322 229730322 + Missense_Mutation SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 1 229730322 229730322 C T SNP TAF5L ENST00000258281 human ensembl 74_37 -1 known missense c.1492 p.A498T 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_TFIID-su_WD40-assoc_reg,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TAF5L HGNC ENSG00000135801 tier1 - - 65 0 0.00 66 5 7.04 TBP 0 genome.wustl.edu 37 6 170871043 170871043 + Silent SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 6 170871043 170871043 G A SNP TBP ENST00000230354 human ensembl 74_37 +1 known silent c.219 p.Q73 0.964 NULL pfam_TBP,prints_TBP - no_errors TBP HGNC ENSG00000112592 tier1 - - 80 0 0.00 57 4 6.56 TFAP4 0 genome.wustl.edu 37 16 4311926 4311926 + Nonsense_Mutation SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 16 4311926 4311926 G A SNP TFAP4 ENST00000204517 human ensembl 74_37 -1 known nonsense c.379 p.R127* 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TFAP4 HGNC ENSG00000090447 tier1 - - 69 0 0.00 35 17 32.08 THSD4 0 genome.wustl.edu 37 15 71535400 71535400 + Missense_Mutation SNP G G T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 15 71535400 71535400 G T SNP THSD4 ENST00000261862 human ensembl 74_37 +1 known missense c.877 p.G293W 0.998 pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors THSD4 HGNC ENSG00000187720 tier1 - - 59 0 0.00 50 4 7.41 TLR10 0 genome.wustl.edu 37 4 38774956 38774956 + Silent SNP T T C TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 4 38774956 38774956 T C SNP TLR10 ENST00000308973 human ensembl 74_37 -1 known silent c.2256 p.K752 0.718 pirsf_Toll-like_receptor,pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR10 HGNC ENSG00000174123 tier1 - - 121 0 0.00 60 4 6.25 TNKS1BP1 0 genome.wustl.edu 37 11 57068026 57068026 + Silent SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 11 57068026 57068026 C T SNP TNKS1BP1 ENST00000358252 human ensembl 74_37 -1 known silent c.5178 p.K1726 1.000 NULL NULL - no_errors TNKS1BP1 HGNC ENSG00000149115 tier1 - - 51 0 0.00 2 15 88.24 TOE1 0 genome.wustl.edu 37 1 45807158 45807158 + Missense_Mutation SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 1 45807158 45807158 C T SNP TOE1 ENST00000372090 human ensembl 74_37 +1 known missense c.250 p.R84C 1.000 pfam_RNase_CAF1,superfamily_RNaseH-like_dom pfam_RNase_CAF1,pfam_Znf_CCCH,superfamily_RNaseH-like_dom - no_errors TOE1 HGNC ENSG00000132773 27 0 0.00 15 6 28.57 TP53 0 genome.wustl.edu 37 17 7578190 7578190 + Missense_Mutation SNP T T C TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 17 7578190 7578190 T C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.659 p.Y220C 0.998 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 77 0 0.00 13 30 69.77 TPSG1 0 genome.wustl.edu 37 16 1272838 1272838 + Missense_Mutation SNP G G T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 16 1272838 1272838 G T SNP TPSG1 ENST00000234798 human ensembl 74_37 -1 known missense c.325 p.Q109K 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 TPSG1 HGNC ENSG00000116176 tier1 - - 113 0 0.00 36 69 65.71 TSEN2 0 genome.wustl.edu 37 3 12544842 12544842 + Missense_Mutation SNP G G T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 3 12544842 12544842 G T SNP TSEN2 ENST00000284995 human ensembl 74_37 +1 known missense c.390 p.K130N 0.199 pirsf_tRNA_splic_SEN2 pfam_tRNA_intron_Endonuc_cat-like,pfam_tRNA_intron_Endonuc_N,superfamily_tRNA_intron_Endonuc_cat-like,pirsf_tRNA_splic_SEN2 - no_errors TSEN2 HGNC ENSG00000154743 tier1 - - 61 0 0.00 56 4 6.67 TSPAN2 0 genome.wustl.edu 37 1 115604801 115604801 + Silent SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 1 115604801 115604801 G A SNP TSPAN2 ENST00000369516 human ensembl 74_37 -1 known silent c.225 p.F75 0.951 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN2 HGNC ENSG00000134198 tier1 - - 217 0 0.00 68 33 32.67 TTN 0 genome.wustl.edu 37 2 179434879 179434879 + Missense_Mutation SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 2 179434879 179434879 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.68276 p.R22759K 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 40 0 0.00 17 13 43.33 TTN 0 genome.wustl.edu 37 2 179593369 179593369 + Missense_Mutation SNP A A T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 2 179593369 179593369 A T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.15552 p.S5184R 0.993 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 51 0 0.00 48 4 7.69 TULP2 0 genome.wustl.edu 37 19 49388731 49388731 + Silent SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 19 49388731 49388731 G A SNP TULP2 ENST00000221399 human ensembl 74_37 -1 known silent c.1035 p.D345 0.983 pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C,prints_Tubby_N - no_errors TULP2 HGNC ENSG00000104804 tier1 - - 84 0 0.00 45 11 19.64 UFSP2 0 genome.wustl.edu 37 4 186329540 186329540 + Missense_Mutation SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 4 186329540 186329540 C T SNP UFSP2 ENST00000264689 human ensembl 74_37 -1 known missense c.881 p.R294H 0.890 pfam_Peptidase_C78_UfSP1/2 pfam_Peptidase_C78_UfSP1/2 - no_errors UFSP2 HGNC ENSG00000109775 tier1 - - 42 0 0.00 25 9 26.47 UNC13C 0 genome.wustl.edu 37 15 54556406 54556406 + Missense_Mutation SNP G G T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 15 54556406 54556406 G T SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known missense c.3489 p.K1163N 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 tier1 - - 64 0 0.00 52 4 7.14 USH2A 0 genome.wustl.edu 37 1 216256830 216256830 + Missense_Mutation SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 1 216256830 216256830 C T SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.5266 p.V1756I 0.472 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Laminin_G,pfscan_Laminin_G pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 tier1 rs143208990 - 134 0 0.00 125 37 22.84 USP12 0 genome.wustl.edu 37 13 27645219 27645219 + Missense_Mutation SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 13 27645219 27645219 C T SNP USP12 ENST00000282344 human ensembl 74_37 -1 known missense c.1000 p.D334N 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP12 HGNC ENSG00000152484 tier1 - - 76 0 0.00 51 36 41.38 VDAC1 0 genome.wustl.edu 37 5 133326757 133326757 + Missense_Mutation SNP A A G TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 5 133326757 133326757 A G SNP VDAC1 ENST00000265333 human ensembl 74_37 -1 known missense c.206 p.L69P 1.000 pfam_Porin_Euk/Tom40,prints_Porin_Euk pfam_Porin_Euk/Tom40,prints_Porin_Euk - no_errors VDAC1 HGNC ENSG00000213585 tier1 - - 101 0 0.00 57 38 40.00 VPS13D 0 genome.wustl.edu 37 1 12351120 12351120 + Missense_Mutation SNP G G C TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 1 12351120 12351120 G C SNP VPS13D ENST00000358136 human ensembl 74_37 +1 known missense c.5791 p.E1931Q 1.000 NULL pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 tier1 - - 26 0 0.00 8 6 42.86 WDFY1 0 genome.wustl.edu 37 2 224746742 224746742 + Missense_Mutation SNP G G C TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 2 224746742 224746742 G C SNP WDFY1 ENST00000233055 human ensembl 74_37 -1 known missense c.981 p.S327R 1.000 pfam_Znf_FYVE,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel pfam_WD40_repeat,pfam_Znf_FYVE,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,smart_WD40_repeat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDFY1 HGNC ENSG00000085449 tier1 - - 47 0 0.00 25 24 48.98 ZC3H10 0 genome.wustl.edu 37 12 56512094 56512094 + RNA SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 12 56512094 56512094 C T SNP ZC3H10 ENST00000549973 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ZC3H10 HGNC ENSG00000135482 tier1 - - 42 0 0.00 11 26 68.42 ZC3H13 0 genome.wustl.edu 37 13 46559748 46559748 + Silent SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 13 46559748 46559748 C T SNP ZC3H13 ENST00000242848 human ensembl 74_37 -1 known silent c.1404 p.R468 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 tier1 - - 38 0 0.00 33 17 33.33 ZMAT4 0 genome.wustl.edu 37 8 40438734 40438734 + Missense_Mutation SNP G G T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 8 40438734 40438734 G T SNP ZMAT4 ENST00000297737 human ensembl 74_37 -1 known missense c.624 p.N208K 1.000 pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZMAT4 HGNC ENSG00000165061 tier1 - - 84 0 0.00 10 41 80.39 ZNF281 0 genome.wustl.edu 37 1 200377974 200377974 + Missense_Mutation SNP C C A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 1 200377974 200377974 C A SNP ZNF281 ENST00000294740 human ensembl 74_37 -1 known missense c.860 p.R287I 0.996 pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF281 HGNC ENSG00000162702 tier1 - - 66 0 0.00 30 28 48.28 ZNF417 0 genome.wustl.edu 37 19 58420048 58420048 + Missense_Mutation SNP G G A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 19 58420048 58420048 G A SNP ZNF417 ENST00000312026 human ensembl 74_37 -1 known missense c.1598 p.S533F 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF417 HGNC ENSG00000173480 tier1 - - 135 0 0.00 90 9 9.09 ZNF562 0 genome.wustl.edu 37 19 9763683 9763683 + Missense_Mutation SNP G G C TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 19 9763683 9763683 G C SNP ZNF562 ENST00000448622 human ensembl 74_37 -1 known missense c.1223 p.T408S 0.081 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 ZNF562 HGNC ENSG00000171466 tier1 - - 101 0 0.00 18 28 60.87 ZNF672 0 genome.wustl.edu 37 1 249142293 249142293 + Missense_Mutation SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 1 249142293 249142293 C T SNP ZNF672 ENST00000306562 human ensembl 74_37 +1 known missense c.820 p.R274W 0.337 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF672 HGNC ENSG00000171161 tier1 - - 17 0 0.00 19 10 34.48 ZWILCH 0 genome.wustl.edu 37 15 66806415 66806415 + Silent SNP A A G TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 27a60b64-f5ce-45e1-981c-70cf419c8382 ff7c4baf-0683-4fa1-adf5-0afeb27decd2 15 66806415 66806415 A G SNP ZWILCH ENST00000307897 human ensembl 74_37 +1 known silent c.195 p.E65 0.998 pfam_RZZ-complex_zwilch pfam_RZZ-complex_zwilch - no_errors ZWILCH HGNC ENSG00000174442 58 0 0.00 52 3 5.45