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 AHNAK 79026 genome.wustl.edu 37 11 62288062 62288062 + Silent SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 11 62288062 62288062 G A SNP AHNAK ENST00000378024 human ensembl 70_37 -1 known silent c.13827 p.G4609 0.008 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC AIDA 64853 genome.wustl.edu 37 1 222867561 222867561 + Silent SNP T T A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 1 222867561 222867561 T A SNP AIDA ENST00000340020 human ensembl 70_37 -1 known silent c.225 p.A75 1.000 pfam_AIDA,superfamily_AIDA_N pfam_AIDA,superfamily_AIDA_N - no_errors AIDA HGNC AKR1CL1 340811 genome.wustl.edu 37 10 5204935 5204935 + Missense_Mutation SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 10 5204935 5204935 C T SNP AKR1CL1 ENST00000334314 human ensembl 70_37 -1 known missense c.142 p.G48S 0.079 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1CL1 HGNC AMBRA1 55626 genome.wustl.edu 37 11 46569840 46569840 + Missense_Mutation SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 11 46569840 46569840 C T SNP AMBRA1 ENST00000458649 human ensembl 70_37 -1 known missense c.91 p.E31K 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AMBRA1 HGNC ANKLE1 126549 genome.wustl.edu 37 19 17397487 17397487 + Missense_Mutation SNP G G T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 19 17397487 17397487 G T SNP ANKLE1 ENST00000598347 human ensembl 70_37 +1 putative missense c.1757 p.C586F 0.697 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Lactate_DH/Glyco_Ohase_4_C,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKLE1 HGNC ANKLE1 126549 genome.wustl.edu 37 19 17397497 17397497 + Silent SNP G G T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 19 17397497 17397497 G T SNP ANKLE1 ENST00000598347 human ensembl 70_37 +1 putative silent c.1767 p.V589 0.085 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Lactate_DH/Glyco_Ohase_4_C,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKLE1 HGNC ANO6 196527 genome.wustl.edu 37 12 45833645 45833645 + Missense_Mutation SNP T T G TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 12 45833645 45833645 T G SNP ANO6 ENST00000425752 human ensembl 70_37 +1 known missense c.2714 p.F905C 0.003 NULL pfam_Anoctamin - no_errors ANO6 HGNC ARHGAP19 84986 genome.wustl.edu 37 10 99018461 99018461 + RNA SNP G G T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 10 99018461 99018461 G T SNP ARHGAP19 ENST00000492211 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors ARHGAP19 HGNC ARHGEF15 22899 genome.wustl.edu 37 17 8215677 8215677 + Missense_Mutation SNP C C G TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 17 8215677 8215677 C G SNP ARHGEF15 ENST00000361926 human ensembl 70_37 +1 known missense c.320 p.S107C 0.262 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF15 HGNC ARHGEF28 64283 genome.wustl.edu 37 5 73236769 73236769 + Silent SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 5 73236769 73236769 G A SNP ARHGEF28 ENST00000545377 human ensembl 70_37 +1 known silent c.5127 p.P1709 0.000 NULL pfam_DH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors ARHGEF28 HGNC ARMC4 55130 genome.wustl.edu 37 10 28151524 28151524 + Missense_Mutation SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 10 28151524 28151524 C T SNP ARMC4 ENST00000305242 human ensembl 70_37 -1 known missense c.2638 p.V880I 1.000 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP/TIF31_domain,smart_Armadillo,pfscan_Armadillo - no_errors ARMC4 HGNC AXDND1 126859 genome.wustl.edu 37 1 179503884 179503884 + Missense_Mutation SNP A A G TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 1 179503884 179503884 A G SNP AXDND1 ENST00000367618 human ensembl 70_37 +1 known missense c.2818 p.R940G 0.886 NULL pfam_Axonemal_dynein_light_chain - no_errors AXDND1 HGNC AZI1 22994 genome.wustl.edu 37 17 79167808 79167808 + Missense_Mutation SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 17 79167808 79167808 G A SNP AZI1 ENST00000269392 human ensembl 70_37 -1 known missense c.2248 p.R750C 0.857 NULL superfamily_t-SNARE - no_errors AZI1 HGNC BRD8 10902 genome.wustl.edu 37 5 137486436 137486436 + Missense_Mutation SNP C C G TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 5 137486436 137486436 C G SNP BRD8 ENST00000254900 human ensembl 70_37 -1 known missense c.3118 p.E1040Q 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC C9orf123 90871 genome.wustl.edu 37 9 7799696 7799696 + Silent SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 9 7799696 7799696 G A SNP C9orf123 ENST00000358227 human ensembl 70_37 -1 known silent c.39 p.I13 0.001 NULL NULL - no_errors C9orf123 HGNC CASP8 841 genome.wustl.edu 37 2 202149611 202149611 + Missense_Mutation SNP T T A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 2 202149611 202149611 T A SNP CASP8 ENST00000358485 human ensembl 70_37 +1 known missense c.1052 p.I351N 0.754 pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_ICE_p20 pfam_DED,pfam_Pept_C14_cat,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP8 HGNC CBWD3 445571 genome.wustl.edu 37 9 70883977 70883977 + RNA SNP G G C TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 9 70883977 70883977 G C SNP CBWD3 ENST00000469687 human ensembl 70_37 +1 known rna NULL NULL 0.138 - - - no_errors CBWD3 HGNC CCDC107 203260 genome.wustl.edu 37 9 35658621 35658621 + Missense_Mutation SNP C C A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 9 35658621 35658621 C A SNP CCDC107 ENST00000426546 human ensembl 70_37 +1 known missense c.155 p.P52Q 0.141 NULL NULL - no_errors CCDC107 HGNC CCDC14 64770 genome.wustl.edu 37 3 123680158 123680158 + Missense_Mutation SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 3 123680158 123680158 G A SNP CCDC14 ENST00000488653 human ensembl 70_37 -1 known missense c.7 p.R3C 0.143 NULL NULL - no_errors CCDC14 HGNC CCDC144CP 348254 genome.wustl.edu 37 17 20243527 20243527 + RNA SNP A A T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 17 20243527 20243527 A T SNP CCDC144C ENST00000580574 human ensembl 70_37 +1 known rna NULL NULL 0.955 - - - no_errors CCDC144C HGNC CCR4 1233 genome.wustl.edu 37 3 32995849 32995849 + Missense_Mutation SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 3 32995849 32995849 G A SNP CCR4 ENST00000330953 human ensembl 70_37 +1 known missense c.935 p.R312H 1.000 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR4,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_ATII_rcpt,prints_Duffy_chemokine_rcpt - no_errors CCR4 HGNC CEP170 9859 genome.wustl.edu 37 1 243388488 243388488 + Missense_Mutation SNP A A C TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 1 243388488 243388488 A C SNP CEP170 ENST00000366542 human ensembl 70_37 -1 known missense c.95 p.L32R 1.000 pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Fibronectin_type3,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170 HGNC CHD9 80205 genome.wustl.edu 37 16 53243499 53243499 + Missense_Mutation SNP G G C TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 16 53243499 53243499 G C SNP CHD9 ENST00000398510 human ensembl 70_37 +1 known missense c.1558 p.E520Q 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD9 HGNC CHGA 1113 genome.wustl.edu 37 14 93393957 93393957 + Missense_Mutation SNP C C G TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 14 93393957 93393957 C G SNP CHGA ENST00000216492 human ensembl 70_37 +1 known missense c.250 p.L84V 0.125 pfam_Granin pfam_Granin,prints_Chromogranin_AB - no_errors CHGA HGNC CKAP2 26586 genome.wustl.edu 37 13 53036502 53036502 + Missense_Mutation SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 13 53036502 53036502 C T SNP CKAP2 ENST00000378037 human ensembl 70_37 +1 known missense c.1108 p.R370C 1.000 NULL NULL - no_errors CKAP2 HGNC CKAP5 9793 genome.wustl.edu 37 11 46831302 46831302 + Missense_Mutation SNP A A T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 11 46831302 46831302 A T SNP CKAP5 ENST00000415402 human ensembl 70_37 -1 known missense c.753 p.D251E 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CKAP5 HGNC CNGB1 1258 genome.wustl.edu 37 16 57931755 57931755 + Missense_Mutation SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 16 57931755 57931755 C T SNP CNGB1 ENST00000251102 human ensembl 70_37 -1 known missense c.3040 p.D1014N 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB1 HGNC CNGB1 1258 genome.wustl.edu 37 16 57951355 57951355 + Silent SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 16 57951355 57951355 G A SNP CNGB1 ENST00000251102 human ensembl 70_37 -1 known silent c.1983 p.F661 1.000 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB1 HGNC CROCCP2 84809 genome.wustl.edu 37 1 16945182 16945184 + RNA DEL AAT AAT - TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 AAT AAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 1 16945182 16945184 AAT - DEL CROCCP2 ENST00000412962 human ensembl 70_37 -1 known rna NULL NULL 0.016:0.018:0.018 - - - no_errors CROCCP2 HGNC CSHL1 1444 genome.wustl.edu 37 17 61987643 61987643 + Missense_Mutation SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 17 61987643 61987643 C T SNP CSHL1 ENST00000309894 human ensembl 70_37 -1 known missense c.350 p.R117Q 1.000 pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin - no_errors CSHL1 HGNC CYP2J2 1573 genome.wustl.edu 37 1 60359403 60359403 + Missense_Mutation SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 1 60359403 60359403 C T SNP CYP2J2 ENST00000371204 human ensembl 70_37 -1 known missense c.1429 p.E477K 0.743 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2J-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450_E_grp-I_CYP2D-like - no_errors CYP2J2 HGNC DAOA 267012 genome.wustl.edu 37 13 106142425 106142425 + Nonsense_Mutation SNP G G T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 13 106142425 106142425 G T SNP DAOA ENST00000375936 human ensembl 70_37 +1 known nonsense c.457 p.E153* 0.000 NULL NULL - no_errors DAOA HGNC DDX41 51428 genome.wustl.edu 37 5 176939169 176939169 + Missense_Mutation SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 5 176939169 176939169 C T SNP DDX41 ENST00000507955 human ensembl 70_37 -1 known missense c.1660 p.E554K 1.000 pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_Znf_CCHC,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX41 HGNC DMKN 93099 genome.wustl.edu 37 19 35997050 35997050 + Missense_Mutation SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 19 35997050 35997050 G A SNP DMKN ENST00000419602 human ensembl 70_37 -1 known missense c.983 p.A328V 0.000 NULL NULL - no_errors DMKN HGNC DNAH10 196385 genome.wustl.edu 37 12 124393810 124393810 + Missense_Mutation SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 12 124393810 124393810 C T SNP DNAH10 ENST00000409039 human ensembl 70_37 +1 known missense c.9464 p.S3155L 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase - no_errors DNAH10 HGNC E2F4 1874 genome.wustl.edu 37 16 67229811 67229811 + Missense_Mutation SNP G G T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 16 67229811 67229811 G T SNP E2F4 ENST00000379378 human ensembl 70_37 +1 known missense c.935 p.S312I 0.999 NULL pfam_E2F_TDP - no_errors E2F4 HGNC E2F4 1874 genome.wustl.edu 37 16 67229811 67229812 + In_Frame_Ins INS - - CAGCAT TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 16 67229811 67229812 - CAGCAT INS E2F4 ENST00000379378 human ensembl 70_37 +1 known in_frame_ins c.935_936 p.314in_frame_insIS 0.999:0.996 NULL pfam_E2F_TDP - no_errors E2F4 HGNC ENSG00000188474 0 genome.wustl.edu 37 19 12223527 12223527 + Missense_Mutation SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 19 12223527 12223527 C T SNP ENSG00000188474 ENST00000339302 human ensembl 70_37 +1 known missense c.1165 p.R389C 0.999 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF788 Uniprot_genename ENSG00000221278 0 genome.wustl.edu 37 X 14783100 14783100 + RNA SNP G G C TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e X 14783100 14783100 G C SNP ENSG00000221278 ENST00000408351 human ensembl 70_37 -1 novel rna NULL NULL 0.039 - - - no_errors AC003658.1 Clone_based_ensembl_gene ENSG00000237291 0 genome.wustl.edu 37 1 143169688 143169688 + RNA SNP A A C TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 1 143169688 143169688 A C SNP ENSG00000237291 ENST00000424474 human ensembl 70_37 +1 known rna NULL NULL 0.061 - - - no_errors BX571672.4 Clone_based_vega_gene ENSG00000238421 0 genome.wustl.edu 37 GL000192.1 545107 545107 + RNA SNP T T C TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e GL000192.1 545107 545107 T C SNP ENSG00000238421 ENST00000459549 human ensembl 70_37 -1 novel rna NULL NULL NULL - - - no_errors U1 RFAM ENSG00000241769 0 genome.wustl.edu 37 X 148615815 148615815 + RNA SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e X 148615815 148615815 C T SNP ENSG00000241769 ENST00000431214 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors AF011889.4 Clone_based_vega_gene ENSG00000251143 0 genome.wustl.edu 37 11 71729063 71729063 + RNA SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 11 71729063 71729063 G A SNP ENSG00000251143 ENST00000502284 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-849H4.4 Clone_based_vega_gene ENSG00000258276 0 genome.wustl.edu 37 14 20010516 20010516 + RNA SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 14 20010516 20010516 G A SNP ENSG00000258276 ENST00000547584 human ensembl 70_37 +1 known rna NULL NULL 0.036 - - - no_errors RP11-244H18.1 Clone_based_vega_gene ENSG00000263272 0 genome.wustl.edu 37 17 5328478 5328478 + RNA SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 17 5328478 5328478 C T SNP ENSG00000263272 ENST00000575890 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CTC-524C5.2 Clone_based_vega_gene ENSG00000265489 0 genome.wustl.edu 37 17 12663829 12663829 + RNA SNP T T A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 17 12663829 12663829 T A SNP ENSG00000265489 ENST00000584772 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-1090M7.1 Clone_based_vega_gene ENSG00000268146 0 genome.wustl.edu 37 1 244228156 244228156 + Missense_Mutation SNP T T G TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 1 244228156 244228156 T G SNP ENSG00000268146 ENST00000598000 human ensembl 70_37 +1 known missense c.241 p.Y81D 0.000 NULL NULL - no_errors AL590483.1 Clone_based_ensembl_gene EP400NL 347918 genome.wustl.edu 37 12 132611225 132611225 + RNA SNP G G T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 12 132611225 132611225 G T SNP EP400NL ENST00000475841 human ensembl 70_37 +1 known rna NULL NULL 0.221 - - - no_errors EP400NL HGNC FAM114A2 10827 genome.wustl.edu 37 5 153414396 153414396 + Missense_Mutation SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 5 153414396 153414396 C T SNP FAM114A2 ENST00000351797 human ensembl 70_37 -1 known missense c.118 p.E40K 0.467 NULL pfam_DUF719 - no_errors FAM114A2 HGNC FAM69C 125704 genome.wustl.edu 37 18 72114129 72114129 + Silent SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 18 72114129 72114129 G A SNP FAM69C ENST00000343998 human ensembl 70_37 -1 known silent c.588 p.Y196 0.056 superfamily_Kinase-like_dom pfam_Uncharacterised_FAM69,superfamily_Kinase-like_dom - no_errors FAM69C HGNC FAM90A27P 646508 genome.wustl.edu 37 19 53787417 53787417 + RNA SNP T T A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 19 53787417 53787417 T A SNP FAM90A27P ENST00000599085 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors FAM90A27P HGNC FBXO11 80204 genome.wustl.edu 37 2 48059985 48059985 + Missense_Mutation SNP T T G TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 2 48059985 48059985 T G SNP FBXO11 ENST00000403359 human ensembl 70_37 -1 known missense c.1076 p.N359T 1.000 superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom_cyclin-like pfam_Znf_N-recognin,pfam_F-box_dom_cyclin-like,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,smart_Znf_N-recognin_met,pfscan_F-box_dom_cyclin-like,pfscan_Znf_N-recognin,tigrfam_Para_beta_helix_rpt-2 - no_errors FBXO11 HGNC FGF18 8817 genome.wustl.edu 37 5 170883576 170883576 + Missense_Mutation SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 5 170883576 170883576 G A SNP FGF18 ENST00000274625 human ensembl 70_37 +1 known missense c.391 p.E131K 1.000 pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF - no_errors FGF18 HGNC FGL1 2267 genome.wustl.edu 37 8 17731893 17731893 + Missense_Mutation SNP C C A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 8 17731893 17731893 C A SNP FGL1 ENST00000221204 human ensembl 70_37 -1 known missense c.382 p.D128Y 1.000 pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors FGL1 HGNC FLVCR1-AS1 642946 genome.wustl.edu 37 1 213031340 213031340 + RNA SNP C C G TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 1 213031340 213031340 C G SNP FLVCR1-AS1 ENST00000356684 human ensembl 70_37 -1 known rna NULL NULL 0.077 - - - no_errors FLVCR1-AS1 HGNC GNAS 2778 genome.wustl.edu 37 20 57429140 57429140 + Missense_Mutation SNP C C G TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 20 57429140 57429140 C G SNP GNAS ENST00000371100 human ensembl 70_37 +1 putative missense c.820 p.P274A 0.992 NULL pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su - no_errors GNAS HGNC GPATCH8 23131 genome.wustl.edu 37 17 42501730 42501730 + Missense_Mutation SNP T T A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 17 42501730 42501730 T A SNP GPATCH8 ENST00000591680 human ensembl 70_37 -1 known missense c.479 p.H160L 1.000 pfam_Znf_C2H2_jaz,pfscan_Znf_C2H2 pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom - no_errors GPATCH8 HGNC GRIN2D 2906 genome.wustl.edu 37 19 48908592 48908592 + Missense_Mutation SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 19 48908592 48908592 G A SNP GRIN2D ENST00000263269 human ensembl 70_37 +1 known missense c.1067 p.R356H 0.525 NULL pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2D HGNC GRM1 2911 genome.wustl.edu 37 6 146755015 146755015 + Missense_Mutation SNP G G T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 6 146755015 146755015 G T SNP GRM1 ENST00000282753 human ensembl 70_37 +1 known missense c.2668 p.G890C 1.000 NULL pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,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 GTF2A1 2957 genome.wustl.edu 37 14 81659058 81659058 + Silent SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 14 81659058 81659058 G A SNP GTF2A1 ENST00000553612 human ensembl 70_37 -1 known silent c.738 p.A246 0.996 pfam_TFIIA_asu/bsu pfam_TFIIA_asu/bsu,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx - no_errors GTF2A1 HGNC H1F0 3005 genome.wustl.edu 37 22 38201875 38201875 + Missense_Mutation SNP G G C TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 22 38201875 38201875 G C SNP H1F0 ENST00000340857 human ensembl 70_37 +1 known missense c.324 p.K108N 1.000 NULL pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5 - no_errors H1F0 HGNC HAO1 54363 genome.wustl.edu 37 20 7915153 7915153 + Silent SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 20 7915153 7915153 G A SNP HAO1 ENST00000378789 human ensembl 70_37 -1 known silent c.267 p.D89 0.946 pfam_FMN-dep_DH,pirsf_Alpha-hydoxy_acid_DH_FMN pfam_FMN-dep_DH,pfam_Glu_synth_centr_C,pirsf_Alpha-hydoxy_acid_DH_FMN - no_errors HAO1 HGNC HLA-A 3105 genome.wustl.edu 37 6 29911302 29911302 + Nonsense_Mutation SNP G G T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 6 29911302 29911302 G T SNP HLA-A ENST00000376806 human ensembl 70_37 +1 known nonsense c.601 p.E201* 0.975 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-A HGNC HMHA1 23526 genome.wustl.edu 37 19 1080508 1080508 + Nonsense_Mutation SNP C C G TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 19 1080508 1080508 C G SNP HMHA1 ENST00000313093 human ensembl 70_37 +1 known nonsense c.1874 p.S625* 0.084 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_FCH,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors HMHA1 HGNC HOXD10 3236 genome.wustl.edu 37 2 176982188 176982188 + Missense_Mutation SNP G G C TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 2 176982188 176982188 G C SNP HOXD10 ENST00000249501 human ensembl 70_37 +1 known missense c.627 p.E209D 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXD10 HGNC HRNR 388697 genome.wustl.edu 37 1 152192981 152192981 + Missense_Mutation SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 1 152192981 152192981 C T SNP HRNR ENST00000368801 human ensembl 70_37 -1 known missense c.1124 p.G375E 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors HRNR HGNC INVS 27130 genome.wustl.edu 37 9 103060280 103060280 + Missense_Mutation SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 9 103060280 103060280 C T SNP INVS ENST00000262457 human ensembl 70_37 +1 known missense c.3079 p.R1027C 0.890 NULL pfam_Ankyrin_rpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_IQ_motif_EF-hand-BS,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ankyrin_rpt - no_errors INVS HGNC KCNB2 9312 genome.wustl.edu 37 8 73849283 73849283 + Missense_Mutation SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 8 73849283 73849283 G A SNP KCNB2 ENST00000523207 human ensembl 70_37 +1 known missense c.1693 p.E565K 0.597 pfam_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv2.2 pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB2 HGNC KIAA0125 9834 genome.wustl.edu 37 14 106391574 106391574 + RNA SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 14 106391574 106391574 C T SNP KIAA0125 ENST00000482999 human ensembl 70_37 +1 known rna NULL NULL 0.010 - - - no_errors KIAA0125 HGNC KIAA0232 9778 genome.wustl.edu 37 4 6860223 6860223 + Missense_Mutation SNP C C G TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 4 6860223 6860223 C G SNP KIAA0232 ENST00000307659 human ensembl 70_37 +1 known missense c.508 p.Q170E 1.000 NULL NULL - no_errors KIAA0232 HGNC KIAA1217 56243 genome.wustl.edu 37 10 24825775 24825775 + Missense_Mutation SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 10 24825775 24825775 G A SNP KIAA1217 ENST00000376454 human ensembl 70_37 +1 known missense c.3487 p.V1163I 0.999 NULL pfam_AIP3_C - no_errors KIAA1217 HGNC KIAA1244 57221 genome.wustl.edu 37 6 138613167 138613167 + Silent SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 6 138613167 138613167 C T SNP KIAA1244 ENST00000251691 human ensembl 70_37 +1 known silent c.3345 p.L1115 1.000 superfamily_ARM-type_fold pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold,superfamily_Sec7,smart_Sec7 - no_errors KIAA1244 HGNC KIAA1407 57577 genome.wustl.edu 37 3 113753989 113753989 + Missense_Mutation SNP C C G TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 3 113753989 113753989 C G SNP KIAA1407 ENST00000295878 human ensembl 70_37 -1 known missense c.601 p.E201Q 1.000 NULL NULL - no_errors KIAA1407 HGNC KPNA1 3836 genome.wustl.edu 37 3 122144682 122144682 + RNA SNP T T C TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 3 122144682 122144682 T C SNP KPNA1 ENST00000470904 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors KPNA1 HGNC LINC00670 284034 genome.wustl.edu 37 17 12493990 12493990 + RNA SNP G G T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 17 12493990 12493990 G T SNP LINC00670 ENST00000313495 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors LINC00670 HGNC LOC100128682 100128682 genome.wustl.edu 37 19 35899196 35899196 + RNA SNP T T A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 19 35899196 35899196 T A SNP LOC100128682 ENST00000536898 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors AC002511.1 Clone_based_vega_gene LOC440993 440993 genome.wustl.edu 37 3 195435185 195435185 + RNA SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 3 195435185 195435185 C T SNP LOC440993 ENST00000417704 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors AC069513.3 Clone_based_vega_gene LONRF3 79836 genome.wustl.edu 37 X 118124432 118124432 + Splice_Site SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e X 118124432 118124432 G A SNP LONRF3 ENST00000371628 human ensembl 70_37 +1 known splice_site c.1325-1 e5-1 0.975 - - - no_errors LONRF3 HGNC LPHN3 23284 genome.wustl.edu 37 4 62800635 62800635 + Missense_Mutation SNP G G T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 4 62800635 62800635 G T SNP LPHN3 ENST00000507625 human ensembl 70_37 +1 known missense c.2190 p.Q730H 0.997 pfam_DUF3497 pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN3 HGNC LRIG2 9860 genome.wustl.edu 37 1 113657360 113657360 + Missense_Mutation SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 1 113657360 113657360 C T SNP LRIG2 ENST00000361127 human ensembl 70_37 +1 known missense c.2392 p.H798Y 0.935 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRIG2 HGNC LYPLAL1 127018 genome.wustl.edu 37 1 219347293 219347293 + Missense_Mutation SNP A A T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 1 219347293 219347293 A T SNP LYPLAL1 ENST00000366928 human ensembl 70_37 +1 known missense c.61 p.S21C 1.000 pfam_PLipase/COase/thioEstase pfam_PLipase/COase/thioEstase,pfam_Dienelactn_hydro,pfam_Esterase_put - no_errors LYPLAL1 HGNC MIER2 54531 genome.wustl.edu 37 19 308613 308613 + Missense_Mutation SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 19 308613 308613 G A SNP MIER2 ENST00000264819 human ensembl 70_37 -1 known missense c.1162 p.R388C 0.005 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors MIER2 HGNC MIR3654 100500804 genome.wustl.edu 37 11 62327752 62327752 + Splice_Site SNP A A C TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 11 62327752 62327752 A C SNP MIR3654 ENST00000496634 human ensembl 70_37 -1 known splice_site c.1578+2 e9+2 0.079 - - - no_errors MIR3654 HGNC MT-ATP8 4509 genome.wustl.edu 37 MT 8517 8517 + Nonsense_Mutation SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e MT 8517 8517 G A SNP MT-ATP8 ENST00000361851 human ensembl 70_37 +1 known nonsense c.152 p.W51* NULL pfam_ATPase_F0-cplx_su8_mt_metazoan pfam_ATPase_F0-cplx_su8_mt_metazoan - no_errors MT-ATP8 HGNC MUC12 10071 genome.wustl.edu 37 7 100641744 100641744 + Missense_Mutation SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 7 100641744 100641744 C T SNP MUC12 ENST00000379442 human ensembl 70_37 +1 known missense c.8329 p.R2777C 0.000 NULL pfam_SEA - no_errors MUC12 HGNC MUC4 4585 genome.wustl.edu 37 3 195507794 195507794 + Missense_Mutation SNP G G C TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 3 195507794 195507794 G C SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.10657 p.L3553V 0.001 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC MYH8 4626 genome.wustl.edu 37 17 10317337 10317337 + Silent SNP G G T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 17 10317337 10317337 G T SNP MYH8 ENST00000403437 human ensembl 70_37 -1 known silent c.1029 p.G343 0.961 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC NIPAL1 152519 genome.wustl.edu 37 4 48037979 48037979 + Silent SNP G G T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 4 48037979 48037979 G T SNP NIPAL1 ENST00000295461 human ensembl 70_37 +1 known silent c.1023 p.L341 1.000 pfam_Mg_trans_NIPA pfam_Mg_trans_NIPA,pfam_DMT - no_errors NIPAL1 HGNC NKX2-2 4821 genome.wustl.edu 37 20 21494232 21494232 + Missense_Mutation SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 20 21494232 21494232 C T SNP NKX2-2 ENST00000377142 human ensembl 70_37 -1 known missense c.76 p.G26S 0.995 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors NKX2-2 HGNC NPC1L1 29881 genome.wustl.edu 37 7 44575553 44575553 + Silent SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 7 44575553 44575553 G A SNP NPC1L1 ENST00000289547 human ensembl 70_37 -1 known silent c.1869 p.D623 0.978 pfam_Patched pfam_Patched,pfscan_SSD - no_errors NPC1L1 HGNC NUP205 23165 genome.wustl.edu 37 7 135330313 135330313 + Silent SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 7 135330313 135330313 G A SNP NUP205 ENST00000285968 human ensembl 70_37 +1 known silent c.5781 p.S1927 0.995 NULL pfam_DUF3414 - no_errors NUP205 HGNC PARD3B 117583 genome.wustl.edu 37 2 206265774 206265774 + Missense_Mutation SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 2 206265774 206265774 G A SNP PARD3B ENST00000406610 human ensembl 70_37 +1 known missense c.2668 p.E890K 0.964 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3B HGNC PCDHB16 57717 genome.wustl.edu 37 5 140562422 140562422 + Silent SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 5 140562422 140562422 C T SNP PCDHB16 ENST00000361016 human ensembl 70_37 +1 known silent c.288 p.C96 0.212 pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB16 HGNC PCDHGA11 56105 genome.wustl.edu 37 5 140801036 140801036 + Missense_Mutation SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 5 140801036 140801036 G A SNP PCDHGA11 ENST00000398587 human ensembl 70_37 +1 known missense c.242 p.R81Q 0.391 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA11 HGNC PEX6 5190 genome.wustl.edu 37 6 42942701 42942701 + Missense_Mutation SNP C C G TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 6 42942701 42942701 C G SNP PEX6 ENST00000304611 human ensembl 70_37 -1 known missense c.958 p.E320Q 1.000 NULL pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors PEX6 HGNC PLIN4 729359 genome.wustl.edu 37 19 4504605 4504605 + Missense_Mutation SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 19 4504605 4504605 C T SNP PLIN4 ENST00000301286 human ensembl 70_37 -1 novel missense c.3940 p.E1314K 0.000 pfam_Perilipin pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom - no_errors PLIN4 HGNC PNPLA6 10908 genome.wustl.edu 37 19 7606555 7606555 + Silent SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 19 7606555 7606555 C T SNP PNPLA6 ENST00000414982 human ensembl 70_37 +1 known silent c.1180 p.L394 0.958 NULL pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA6 HGNC PNPLA8 50640 genome.wustl.edu 37 7 108154978 108154978 + Nonsense_Mutation SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 7 108154978 108154978 G A SNP PNPLA8 ENST00000257694 human ensembl 70_37 -1 known nonsense c.958 p.Q320* 0.366 NULL pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_ARM-type_fold - no_errors PNPLA8 HGNC POLD1 5424 genome.wustl.edu 37 19 50906837 50906837 + Missense_Mutation SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 19 50906837 50906837 C T SNP POLD1 ENST00000440232 human ensembl 70_37 +1 known missense c.1225 p.R409W 1.000 pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 - no_errors POLD1 HGNC PRRC2C 23215 genome.wustl.edu 37 1 171509483 171509483 + Missense_Mutation SNP G G C TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 1 171509483 171509483 G C SNP PRRC2C ENST00000392078 human ensembl 70_37 +1 known missense c.2878 p.E960Q 1.000 NULL pfam_BAT2_N - no_errors PRRC2C HGNC PTPRC 5788 genome.wustl.edu 37 1 198701657 198701657 + Nonsense_Mutation SNP C C G TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 1 198701657 198701657 C G SNP PTPRC ENST00000442510 human ensembl 70_37 +1 known nonsense c.2114 p.S705* 1.000 pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRC HGNC PTPRJ 5795 genome.wustl.edu 37 11 48149588 48149588 + Silent SNP G G T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 11 48149588 48149588 G T SNP PTPRJ ENST00000418331 human ensembl 70_37 +1 known silent c.1350 p.V450 0.952 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRJ HGNC PTPRT 11122 genome.wustl.edu 37 20 41385239 41385239 + Missense_Mutation SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 20 41385239 41385239 C T SNP PTPRT ENST00000373198 human ensembl 70_37 -1 known missense c.722 p.R241H 0.998 pfscan_Ig-like pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC QRICH2 84074 genome.wustl.edu 37 17 74287142 74287142 + Silent SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 17 74287142 74287142 G A SNP QRICH2 ENST00000262765 human ensembl 70_37 -1 known silent c.3168 p.A1056 0.011 NULL NULL - no_errors QRICH2 HGNC RABGGTB 5876 genome.wustl.edu 37 1 76255553 76255553 + RNA SNP C C A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 1 76255553 76255553 C A SNP RABGGTB ENST00000461653 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RABGGTB HGNC RALYL 138046 genome.wustl.edu 37 8 85441636 85441636 + Missense_Mutation SNP A A G TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 8 85441636 85441636 A G SNP RALYL ENST00000521268 human ensembl 70_37 +1 known missense c.80 p.N27S 1.000 pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors RALYL HGNC RARG 5916 genome.wustl.edu 37 12 53607872 53607872 + Missense_Mutation SNP G G C TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 12 53607872 53607872 G C SNP RARG ENST00000394426 human ensembl 70_37 -1 known missense c.784 p.L262V 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors RARG HGNC RBM10 8241 genome.wustl.edu 37 X 47040962 47040962 + Missense_Mutation SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e X 47040962 47040962 C T SNP RBM10 ENST00000377604 human ensembl 70_37 +1 known missense c.1492 p.R498C 0.942 NULL pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM10 HGNC RGPD3 653489 genome.wustl.edu 37 2 107052631 107052631 + Missense_Mutation SNP T T C TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 2 107052631 107052631 T C SNP RGPD3 ENST00000304514 human ensembl 70_37 -1 known missense c.1706 p.H569R 1.000 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD3 HGNC ROBO1 6091 genome.wustl.edu 37 3 78649291 78649291 + Missense_Mutation SNP C C G TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 3 78649291 78649291 C G SNP ROBO1 ENST00000464233 human ensembl 70_37 -1 known missense c.4913 p.R1638T 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors ROBO1 HGNC ROPN1B 152015 genome.wustl.edu 37 3 125694413 125694413 + Missense_Mutation SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 3 125694413 125694413 G A SNP ROPN1B ENST00000251776 human ensembl 70_37 +1 known missense c.124 p.E42K 1.000 superfamily_cAMP_dep_PK_reg_su_I/II_a/b superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors ROPN1B HGNC RSPRY1 89970 genome.wustl.edu 37 16 57238640 57238640 + Missense_Mutation SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 16 57238640 57238640 G A SNP RSPRY1 ENST00000394420 human ensembl 70_37 +1 known missense c.70 p.E24K 0.996 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING - no_errors RSPRY1 HGNC RYR1 6261 genome.wustl.edu 37 19 38964397 38964397 + Missense_Mutation SNP G G C TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 19 38964397 38964397 G C SNP RYR1 ENST00000359596 human ensembl 70_37 +1 known missense c.4146 p.K1382N 1.000 pfscan_B30.2/SPRY pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC SAP30 8819 genome.wustl.edu 37 4 174292224 174292224 + RNA SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 4 174292224 174292224 C T SNP SAP30 ENST00000504618 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors SAP30 HGNC SCN2A 6326 genome.wustl.edu 37 2 166211085 166211085 + Silent SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 2 166211085 166211085 C T SNP SCN2A ENST00000283256 human ensembl 70_37 +1 known silent c.3303 p.L1101 1.000 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC SDC2 6383 genome.wustl.edu 37 8 97614702 97614702 + Silent SNP A A G TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 8 97614702 97614702 A G SNP SDC2 ENST00000302190 human ensembl 70_37 +1 known silent c.252 p.P84 0.006 pfam_Syndecan pfam_Syndecan,smart_Neurexin-like - no_errors SDC2 HGNC SGCE 8910 genome.wustl.edu 37 7 94257516 94257516 + Missense_Mutation SNP C C G TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 7 94257516 94257516 C G SNP SGCE ENST00000445866 human ensembl 70_37 -1 known missense c.388 p.E130Q 1.000 pfam_Sarcoglycan_2,superfamily_Cadherin-like,smart_Cadg pfam_Sarcoglycan_2,superfamily_Cadherin-like,smart_Cadg - no_errors SGCE HGNC SIGLEC12 89858 genome.wustl.edu 37 19 52001468 52001468 + Silent SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 19 52001468 52001468 G A SNP SIGLEC12 ENST00000291707 human ensembl 70_37 -1 known silent c.1209 p.V403 0.003 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC12 HGNC SIPA1L1 26037 genome.wustl.edu 37 14 72196849 72196849 + Silent SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 14 72196849 72196849 G A SNP SIPA1L1 ENST00000555818 human ensembl 70_37 +1 known silent c.4755 p.S1585 0.781 pfam_DUF3401 pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L1 HGNC SLC13A1 6561 genome.wustl.edu 37 7 122774466 122774466 + Silent SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 7 122774466 122774466 G A SNP SLC13A1 ENST00000194130 human ensembl 70_37 -1 known silent c.930 p.F310 1.000 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A1 HGNC SLC36A2 153201 genome.wustl.edu 37 5 150696640 150696640 + Missense_Mutation SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 5 150696640 150696640 G A SNP SLC36A2 ENST00000335244 human ensembl 70_37 -1 known missense c.1190 p.A397V 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC36A2 HGNC SLC5A9 200010 genome.wustl.edu 37 1 48713406 48713406 + RNA SNP C C G TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 1 48713406 48713406 C G SNP SLC5A9 ENST00000471020 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SLC5A9 HGNC SMG1 23049 genome.wustl.edu 37 16 18826564 18826564 + Silent SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 16 18826564 18826564 G A SNP SMG1 ENST00000389467 human ensembl 70_37 -1 known silent c.10557 p.V3519 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC SNORD115-14 100033451 genome.wustl.edu 37 15 25440072 25440072 + RNA SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 15 25440072 25440072 C T SNP SNORD115-14 ENST00000363090 human ensembl 70_37 +1 known rna NULL NULL 0.132 - - - no_errors SNORD115-14 HGNC SOX12 6666 genome.wustl.edu 37 20 306784 306784 + Missense_Mutation SNP G G C TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 20 306784 306784 G C SNP SOX12 ENST00000342665 human ensembl 70_37 +1 known missense c.216 p.K72N 1.000 pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pirsf_SOX-12/11/4a,pfscan_HMG_superfamily pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pirsf_SOX-12/11/4a,pfscan_HMG_superfamily - no_errors SOX12 HGNC SPOCD1 90853 genome.wustl.edu 37 1 32279571 32279571 + Missense_Mutation SNP G G T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 1 32279571 32279571 G T SNP SPOCD1 ENST00000360482 human ensembl 70_37 -1 known missense c.1364 p.P455Q 0.000 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,superfamily_TFIIS_cen_dom,smart_TFS2M - no_errors SPOCD1 HGNC SPTA1 6708 genome.wustl.edu 37 1 158627368 158627368 + Nonsense_Mutation SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 1 158627368 158627368 G A SNP SPTA1 ENST00000368148 human ensembl 70_37 -1 known nonsense c.2704 p.Q902* 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC SPTBN4 57731 genome.wustl.edu 37 19 41030459 41030459 + Missense_Mutation SNP T T G TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 19 41030459 41030459 T G SNP SPTBN4 ENST00000344104 human ensembl 70_37 +1 known missense c.3866 p.I1289S 0.000 smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain - no_errors SPTBN4 HGNC SRCAP 10847 genome.wustl.edu 37 16 30718640 30718640 + Missense_Mutation SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 16 30718640 30718640 C T SNP SRCAP ENST00000262518 human ensembl 70_37 +1 known missense c.443 p.S148F 1.000 pfam_HSA,smart_HAS_subgr,pfscan_Helicase/SANT-assoc_DNA-bd pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC SRPK3 26576 genome.wustl.edu 37 X 153050593 153050593 + Missense_Mutation SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e X 153050593 153050593 C T SNP SRPK3 ENST00000370101 human ensembl 70_37 +1 known missense c.1484 p.S495L 0.997 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors SRPK3 HGNC ST3GAL6 10402 genome.wustl.edu 37 3 98507025 98507025 + Missense_Mutation SNP G G T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 3 98507025 98507025 G T SNP ST3GAL6 ENST00000394162 human ensembl 70_37 +1 known missense c.577 p.D193Y 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL6 HGNC STC2 8614 genome.wustl.edu 37 5 172745253 172745253 + Splice_Site SNP C C A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 5 172745253 172745253 C A SNP STC2 ENST00000265087 human ensembl 70_37 -1 known splice_site c.507-1 e4-1 1.000 - - - no_errors STC2 HGNC SYNE2 23224 genome.wustl.edu 37 14 64685172 64685172 + Silent SNP G G T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 14 64685172 64685172 G T SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known silent c.19599 p.L6533 0.485 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC TATDN1 83940 genome.wustl.edu 37 8 125528235 125528235 + Missense_Mutation SNP C C G TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 8 125528235 125528235 C G SNP TATDN1 ENST00000276692 human ensembl 70_37 -1 known missense c.239 p.R80T 1.000 pfam_TatD_family,pirsf_TatD_family pfam_TatD_family,pirsf_TatD_family - no_errors TATDN1 HGNC TFAP2A 7020 genome.wustl.edu 37 6 10404781 10404781 + Missense_Mutation SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 6 10404781 10404781 C T SNP TFAP2A ENST00000379604 human ensembl 70_37 -1 known missense c.724 p.E242K 1.000 pfam_TF_AP2_C pfam_TF_AP2_C,prints_TF_AP2_C,prints_TF_AP2_alpha_N - no_errors TFAP2A HGNC TICRR 90381 genome.wustl.edu 37 15 90119090 90119090 + Silent SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 15 90119090 90119090 C T SNP TICRR ENST00000268138 human ensembl 70_37 +1 known silent c.273 p.P91 0.014 NULL NULL - no_errors TICRR HGNC TMCC2 9911 genome.wustl.edu 37 1 205210732 205210732 + Missense_Mutation SNP C C G TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 1 205210732 205210732 C G SNP TMCC2 ENST00000358024 human ensembl 70_37 +1 known missense c.307 p.Q103E 1.000 NULL pfam_Predicted_TM_coiled-coil_2,superfamily_t-SNARE - no_errors TMCC2 HGNC TNKS2 80351 genome.wustl.edu 37 10 93610994 93610994 + Missense_Mutation SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 10 93610994 93610994 G A SNP TNKS2 ENST00000371627 human ensembl 70_37 +1 known missense c.2716 p.E906K 1.000 pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS2 HGNC TNXB 7148 genome.wustl.edu 37 6 32035601 32035601 + Silent SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 6 32035601 32035601 C T SNP TNXB ENST00000375247 human ensembl 70_37 -1 known silent c.6381 p.V2127 0.976 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC TRAPPC1 58485 genome.wustl.edu 37 17 7835148 7835148 + Splice_Site SNP C C G TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 17 7835148 7835148 C G SNP TRAPPC1 ENST00000540486 human ensembl 70_37 -1 known splice_site c.1-1 e1-1 1.000 - - - no_errors TRAPPC1 HGNC TRIM9 114088 genome.wustl.edu 37 14 51561087 51561087 + Missense_Mutation SNP C C G TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 14 51561087 51561087 C G SNP TRIM9 ENST00000338969 human ensembl 70_37 -1 known missense c.571 p.D191H 1.000 superfamily_Znf_FYVE_PHD,smart_Znf_B-box,pfscan_Znf_B-box pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM9 HGNC TRIP12 9320 genome.wustl.edu 37 2 230650475 230650475 + Nonsense_Mutation SNP C C A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 2 230650475 230650475 C A SNP TRIP12 ENST00000283943 human ensembl 70_37 -1 known nonsense c.4867 p.E1623* 1.000 superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom - no_errors TRIP12 HGNC TXK 7294 genome.wustl.edu 37 4 48069682 48069682 + Missense_Mutation SNP G G C TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 4 48069682 48069682 G C SNP TXK ENST00000264316 human ensembl 70_37 -1 known missense c.1556 p.A519G 0.000 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors TXK HGNC TYMP 1890 genome.wustl.edu 37 22 50967988 50967988 + Missense_Mutation SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 22 50967988 50967988 C T SNP TYMP ENST00000252029 human ensembl 70_37 -1 known missense c.151 p.E51K 0.290 pfam_Glycosyl_Trfase_fam3_N_dom,superfamily_Glycosyl_Trfase_fam3_N_dom,pirsf_Pyrmidine_PPase,tigrfam_Pyrmidine_PPas_bac/euk pfam_Glycosyl_Trfase_fam3,pfam_Glycosyl_Trfase_fam3_N_dom,pfam_PYNP_C,superfamily_Glycosyl_Trfase_fam3,superfamily_PYNP_C,superfamily_Glycosyl_Trfase_fam3_N_dom,smart_PYNP_C,pirsf_Pyrmidine_PPase,tigrfam_Pyrmidine_PPas_bac/euk - no_errors TYMP HGNC UROC1 131669 genome.wustl.edu 37 3 126202258 126202258 + Missense_Mutation SNP G G C TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 3 126202258 126202258 G C SNP UROC1 ENST00000290868 human ensembl 70_37 -1 known missense c.1844 p.A615G 0.999 pfam_Urocanase_dom,superfamily_Urocanase_dom,pirsf_Urocanase pfam_Urocanase_dom,superfamily_Urocanase_dom,pirsf_Urocanase - no_errors UROC1 HGNC USP9X 8239 genome.wustl.edu 37 X 41055965 41055965 + Missense_Mutation SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e X 41055965 41055965 G A SNP USP9X ENST00000324545 human ensembl 70_37 +1 known missense c.4207 p.E1403K 1.000 NULL pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP9X HGNC UTP6 55813 genome.wustl.edu 37 17 30228608 30228608 + Silent SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 17 30228608 30228608 G A SNP UTP6 ENST00000261708 human ensembl 70_37 -1 known silent c.39 p.L13 0.988 pfam_U3_snoRNA_assoc-6 pfam_U3_snoRNA_assoc-6,smart_HAT - no_errors UTP6 HGNC VN1R2 317701 genome.wustl.edu 37 19 53761980 53761980 + Nonsense_Mutation SNP G G T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 19 53761980 53761980 G T SNP VN1R2 ENST00000341702 human ensembl 70_37 +1 known nonsense c.352 p.G118* 0.000 pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1 pfam_Vmron_rcpt_1,pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1 - no_errors VN1R2 HGNC VPS13D 55187 genome.wustl.edu 37 1 12433879 12433879 + Missense_Mutation SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 1 12433879 12433879 C T SNP VPS13D ENST00000358136 human ensembl 70_37 +1 known missense c.10883 p.S3628L 0.999 NULL pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC VSIG4 11326 genome.wustl.edu 37 X 65242172 65242172 + Missense_Mutation SNP G G T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e X 65242172 65242172 G T SNP VSIG4 ENST00000374737 human ensembl 70_37 -1 known missense c.1133 p.A378D 0.006 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like - no_errors VSIG4 HGNC WDFY4 57705 genome.wustl.edu 37 10 50014080 50014080 + Missense_Mutation SNP C C A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 10 50014080 50014080 C A SNP WDFY4 ENST00000325239 human ensembl 70_37 +1 known missense c.4678 p.P1560T 1.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY4 HGNC WDR24 84219 genome.wustl.edu 37 16 736989 736989 + Missense_Mutation SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 16 736989 736989 C T SNP WDR24 ENST00000248142 human ensembl 70_37 -1 known missense c.1477 p.E493K 0.997 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR24 HGNC WDR24 84219 genome.wustl.edu 37 16 737621 737621 + Silent SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 16 737621 737621 C T SNP WDR24 ENST00000248142 human ensembl 70_37 -1 known silent c.990 p.E330 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR24 HGNC WNK1 65125 genome.wustl.edu 37 12 993814 993814 + Splice_Site SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 12 993814 993814 G A SNP WNK1 ENST00000530271 human ensembl 70_37 +1 known splice_site c.5339-1 e21-1 1.000 - - - no_errors WNK1 HGNC XIST 7503 genome.wustl.edu 37 X 73047699 73047699 + RNA SNP G G T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e X 73047699 73047699 G T SNP XIST ENST00000429829 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC XKR7 343702 genome.wustl.edu 37 20 30585091 30585091 + Missense_Mutation SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 20 30585091 30585091 G A SNP XKR7 ENST00000217299 human ensembl 70_37 +1 known missense c.1571 p.R524Q 1.000 NULL pfam_Transport_prot_XK - no_errors XKR7 HGNC ZBTB38 253461 genome.wustl.edu 37 3 141161572 141161572 + Silent SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 3 141161572 141161572 G A SNP ZBTB38 ENST00000321464 human ensembl 70_37 +1 known silent c.345 p.L115 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB38 HGNC ZFYVE9 9372 genome.wustl.edu 37 1 52704665 52704665 + Missense_Mutation SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 1 52704665 52704665 G A SNP ZFYVE9 ENST00000287727 human ensembl 70_37 +1 known missense c.1576 p.E526K 1.000 pirsf_Znf_FYVE_SARA/endofin pfam_DUF3480,pfam_SARA_Smad-bd,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel - no_errors ZFYVE9 HGNC ZNF135 7694 genome.wustl.edu 37 19 58578900 58578900 + Missense_Mutation SNP G G C TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 19 58578900 58578900 G C SNP ZNF135 ENST00000401053 human ensembl 70_37 +1 known missense c.1120 p.G374R 1.000 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 ZNF135 HGNC ZNF142 7701 genome.wustl.edu 37 2 219503090 219503090 + Missense_Mutation SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 2 219503090 219503090 G A SNP ZNF142 ENST00000411696 human ensembl 70_37 -1 known missense c.5036 p.A1679V 0.441 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF142 HGNC ZNF557 79230 genome.wustl.edu 37 19 7083388 7083388 + Missense_Mutation SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 19 7083388 7083388 C T SNP ZNF557 ENST00000252840 human ensembl 70_37 +1 known missense c.926 p.S309L 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 ZNF557 HGNC ZNF623 9831 genome.wustl.edu 37 8 144733545 144733545 + Silent SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 8 144733545 144733545 C T SNP ZNF623 ENST00000501748 human ensembl 70_37 +1 known silent c.1503 p.N501 0.637 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF623 HGNC ZNF720 124411 genome.wustl.edu 37 16 31724630 31724630 + RNA SNP C C G TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 16 31724630 31724630 C G SNP ZNF720 ENST00000531864 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors ZNF720 HGNC ZNF724P 440519 genome.wustl.edu 37 19 23405220 23405220 + Silent SNP C C T TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 19 23405220 23405220 C T SNP ZNF724P ENST00000418100 human ensembl 70_37 -1 novel silent c.1827 p.K609 0.120 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 ZNF724P HGNC ZNF737 100129842 genome.wustl.edu 37 19 20736569 20736569 + Missense_Mutation SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8d29518-a652-4a57-ae67-a1c223f02851 ccaafdac-76a5-43c5-9202-e078e70d121e 19 20736569 20736569 G A SNP ZNF737 ENST00000427401 human ensembl 70_37 -1 known missense c.76 p.R26W 0.861 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF737 HGNC