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 KCNA3 0 genome.wustl.edu 37 1 111217025 111217025 + Missense_Mutation SNP C C T TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 1 111217025 111217025 C T SNP KCNA3 ENST00000369769 human ensembl 74_37 -1 known missense c.407 p.R136H 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv1.3,prints_K_chnl_volt-dep_Kv1 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.3,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA3 HGNC ENSG00000177272 209 0 0 146 23 13.6095 FBXO44 0 genome.wustl.edu 37 1 11716012 11716012 + Silent SNP C C A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 1 11716012 11716012 C A SNP FBXO44 ENST00000251547 human ensembl 74_37 +1 known silent c.120 p.L40 1.000 pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom pfam_F-box-assoc_dom,pfam_F-box_dom,superfamily_Galactose-bd-like,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom,pfscan_F-box-assoc_dom - no_errors FBXO44 HGNC ENSG00000132879 165 0 0 98 15 13.2743 SPAG17 0 genome.wustl.edu 37 1 118616478 118616478 + Missense_Mutation SNP T T C TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 1 118616478 118616478 T C SNP SPAG17 ENST00000336338 human ensembl 74_37 -1 known missense c.2384 p.Q795R 1.000 NULL NULL - no_errors SPAG17 HGNC ENSG00000155761 91 0 0 67 10 12.987 PRAMEF12 0 genome.wustl.edu 37 1 12836227 12836227 + Missense_Mutation SNP T T A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 1 12836227 12836227 T A SNP PRAMEF12 ENST00000357726 human ensembl 74_37 +1 known missense c.829 p.S277T 0.000 NULL NULL - no_errors PRAMEF12 HGNC ENSG00000116726 223 0 0 181 19 9.5 FLG 0 genome.wustl.edu 37 1 152282723 152282723 + Missense_Mutation SNP C C T TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 1 152282723 152282723 C T SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.4639 p.E1547K 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 555 0 0 464 61 11.619 C1orf112 0 genome.wustl.edu 37 1 169819474 169819474 + Silent SNP C C A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 1 169819474 169819474 C A SNP C1orf112 ENST00000286031 human ensembl 74_37 +1 known silent c.2232 p.S744 0.994 NULL NULL - no_errors C1orf112 HGNC ENSG00000000460 33 0 0 22 2 8.33333 SUCO 0 genome.wustl.edu 37 1 172501643 172501643 + Missense_Mutation SNP T T C TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 1 172501643 172501643 T C SNP SUCO ENST00000608151 human ensembl 74_37 +1 known missense c.31 p.S11P 0.000 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUCO HGNC ENSG00000094975 29 0 0 30 3 9.09091 PIK3C2B 0 genome.wustl.edu 37 1 204433201 204433201 + Missense_Mutation SNP T T C TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 1 204433201 204433201 T C SNP PIK3C2B ENST00000367187 human ensembl 74_37 -1 known missense c.1249 p.R417G 0.995 pfam_PI3K_Ras-bd_dom,smart_PI3K_Ras-bd_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2B HGNC ENSG00000133056 258 0 0 170 18 9.57447 OBSCN 0 genome.wustl.edu 37 1 228399516 228399516 + Missense_Mutation SNP G G A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 1 228399516 228399516 G A SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.32 p.R11H 1.000 pfam_Ig_I-set,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 37 0 0 23 6 20.6897 OBSCN 0 genome.wustl.edu 37 1 228434292 228434292 + Missense_Mutation SNP C C G TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 1 228434292 228434292 C G SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.3821 p.A1274G 0.014 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 190 0 0 78 56 41.791 CNKSR1 0 genome.wustl.edu 37 1 26515312 26515312 + Silent SNP T T G TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 1 26515312 26515312 T G SNP CNKSR1 ENST00000374253 human ensembl 74_37 +1 known silent c.1761 p.G587 0.350 NULL pfam_CRIC_domain_Chordata,pfam_Pleckstrin_homology,pfam_SAM_type1,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR1 HGNC ENSG00000142675 175 1 0.568182 92 27 22.6891 HMGN2 0 genome.wustl.edu 37 1 26801762 26801762 + RNA SNP G G T TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 1 26801762 26801762 G T SNP HMGN2 ENST00000460563 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HMGN2 HGNC ENSG00000198830 9 0 0 3 10 76.9231 YIPF1 0 genome.wustl.edu 37 1 54348919 54348919 + Missense_Mutation SNP G G T TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 1 54348919 54348919 G T SNP YIPF1 ENST00000539954 human ensembl 74_37 -1 known missense c.137 p.A46E 0.942 NULL pfam_Yip1,superfamily_Ribonuclease/ribotoxin - no_errors YIPF1 HGNC ENSG00000058799 88 0 0 61 11 15.2778 IL12RB2 0 genome.wustl.edu 37 1 67795312 67795312 + Missense_Mutation SNP A A C TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 1 67795312 67795312 A C SNP IL12RB2 ENST00000262345 human ensembl 74_37 +1 known missense c.707 p.K236T 0.107 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_IgC2-like_lig-bd,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL12RB2 HGNC ENSG00000081985 88 0 0 73 15 17.0455 ZNF511 0 genome.wustl.edu 37 10 135123307 135123307 + Silent SNP C C G TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 10 135123307 135123307 C G SNP ZNF511 ENST00000368554 human ensembl 74_37 +1 known silent c.60 p.A20 0.001 smart_Znf_C2H2-like smart_Znf_C2H2-like - no_errors ZNF511 HGNC ENSG00000198546 145 0 0 108 12 10 NSUN6 0 genome.wustl.edu 37 10 18835004 18835004 + Missense_Mutation SNP C C T TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 10 18835004 18835004 C T SNP NSUN6 ENST00000377304 human ensembl 74_37 -1 known missense c.1268 p.R423Q 1.000 NULL pfam_Fmu/NOL1/Nop2p,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_PUA,superfamily_PUA-like_domain,pfscan_PUA,prints_RCMT - no_errors NSUN6 HGNC ENSG00000241058 273 0 0 251 29 10.3571 ANKRD30A 0 genome.wustl.edu 37 10 37505192 37505192 + Missense_Mutation SNP C C T TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 10 37505192 37505192 C T SNP ANKRD30A ENST00000361713 human ensembl 74_37 +1 known missense c.2785 p.R929C 0.006 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ENSG00000148513 58 0 0 43 4 8.51064 ZNF488 0 genome.wustl.edu 37 10 48371149 48371149 + Missense_Mutation SNP G G A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 10 48371149 48371149 G A SNP ZNF488 ENST00000395702 human ensembl 74_37 +1 known missense c.617 p.R206Q 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF488 HGNC ENSG00000165388 117 0 0 134 14 9.45946 PRKCQ 0 genome.wustl.edu 37 10 6540467 6540467 + Missense_Mutation SNP G G A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 10 6540467 6540467 G A SNP PRKCQ ENST00000263125 human ensembl 74_37 -1 known missense c.433 p.R145C 1.000 pirsf_Prot_kin_PKC_delta pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKCQ HGNC ENSG00000065675 97 0 0 76 4 5 CDH23 0 genome.wustl.edu 37 10 73270759 73270759 + Splice_Site SNP G G A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 10 73270759 73270759 G A SNP CDH23 ENST00000461841 human ensembl 74_37 +1 known splice_site c.471+1 e5+1 1.000 - - - no_errors CDH23 HGNC ENSG00000107736 141 0 0 104 14 11.8644 PRB3 0 genome.wustl.edu 37 12 11420535 11420535 + Missense_Mutation SNP T T G TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 12 11420535 11420535 T G SNP PRB3 ENST00000538488 human ensembl 74_37 -1 known missense c.585 p.Q195H 0.000 NULL NULL - no_errors PRB3 HGNC ENSG00000197870 399 0 0 309 21 6.36364 RIMBP2 0 genome.wustl.edu 37 12 130898829 130898829 + Silent SNP A A G TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 12 130898829 130898829 A G SNP RIMBP2 ENST00000261655 human ensembl 74_37 -1 known silent c.2493 p.L831 0.031 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain - no_errors RIMBP2 HGNC ENSG00000060709 106 0 0 73 7 8.75 KRT75 0 genome.wustl.edu 37 12 52822136 52822136 + Missense_Mutation SNP C C G TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 12 52822136 52822136 C G SNP KRT75 ENST00000252245 human ensembl 74_37 -1 known missense c.1286 p.R429P 0.997 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT75 HGNC ENSG00000170454 143 0 0 44 47 51.6484 NAV3 0 genome.wustl.edu 37 12 78444643 78444643 + Missense_Mutation SNP G G T TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 12 78444643 78444643 G T SNP NAV3 ENST00000397909 human ensembl 74_37 +1 known missense c.2232 p.L744F 0.997 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 94 0 0 75 8 9.63855 UGGT2 0 genome.wustl.edu 37 13 96511868 96511868 + Missense_Mutation SNP T T A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 13 96511868 96511868 T A SNP UGGT2 ENST00000376747 human ensembl 74_37 -1 known missense c.3802 p.N1268Y 1.000 pfam_Glyco_trans_8 pfam_UDP-g_GGtrans,pfam_Glyco_trans_8 - no_errors UGGT2 HGNC ENSG00000102595 49 0 0 27 3 10 SOS2 0 genome.wustl.edu 37 14 50666457 50666457 + Missense_Mutation SNP A A T TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 14 50666457 50666457 A T SNP SOS2 ENST00000216373 human ensembl 74_37 -1 known missense c.462 p.H154Q 1.000 pfam_Histone_core_D,superfamily_Histone-fold pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS2 HGNC ENSG00000100485 82 0 0 54 6 10 PTGDR 0 genome.wustl.edu 37 14 52734889 52734889 + Silent SNP G G A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 14 52734889 52734889 G A SNP PTGDR ENST00000306051 human ensembl 74_37 +1 known silent c.357 p.S119 0.996 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Pglndn_D_rcpt,prints_Prostanoid_rcpt - no_errors PTGDR HGNC ENSG00000168229 295 0 0 216 24 10 GOLGA8EP 0 genome.wustl.edu 37 15 23443504 23443504 + RNA SNP G G A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 15 23443504 23443504 G A SNP GOLGA8EP ENST00000526079 human ensembl 74_37 +1 known rna NULL NULL 0.008 - - - no_errors GOLGA8EP HGNC ENSG00000175676 67 0 0 42 5 10.6383 TP53BP1 0 genome.wustl.edu 37 15 43748491 43748491 + Missense_Mutation SNP C C T TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 15 43748491 43748491 C T SNP TP53BP1 ENST00000382044 human ensembl 74_37 -1 known missense c.2315 p.R772K 0.919 NULL pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TP53BP1 HGNC ENSG00000067369 80 0 0 61 27 30.6818 SLC24A5 0 genome.wustl.edu 37 15 48429089 48429089 + Missense_Mutation SNP G G A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 15 48429089 48429089 G A SNP SLC24A5 ENST00000341459 human ensembl 74_37 +1 known missense c.800 p.G267E 1.000 tigrfam_K/Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A5 HGNC ENSG00000188467 75 0 0 54 10 15.625 PIGW 0 genome.wustl.edu 37 17 34893858 34893858 + Missense_Mutation SNP G G T TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 17 34893858 34893858 G T SNP PIGW ENST00000328396 human ensembl 74_37 +1 known missense c.908 p.R303L 0.998 pfam_GWT1,pirsf_GWT1 pfam_GWT1,pirsf_GWT1 - no_errors PIGW HGNC ENSG00000184886 105 0 0 85 10 10.5263 KRT31 0 genome.wustl.edu 37 17 39553526 39553526 + Missense_Mutation SNP C C T TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 17 39553526 39553526 C T SNP KRT31 ENST00000251645 human ensembl 74_37 -1 known missense c.266 p.R89Q 0.808 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT31 HGNC ENSG00000094796 146 0 0 91 30 24.7934 RNF165 0 genome.wustl.edu 37 18 44013236 44013236 + Missense_Mutation SNP G G A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 18 44013236 44013236 G A SNP RNF165 ENST00000269439 human ensembl 74_37 +1 known missense c.145 p.A49T 0.877 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF165 HGNC ENSG00000141622 34 0 0 29 7 19.4444 CCBE1 0 genome.wustl.edu 37 18 57107014 57107014 + Silent SNP G G A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 18 57107014 57107014 G A SNP CCBE1 ENST00000439986 human ensembl 74_37 -1 known silent c.810 p.P270 0.238 pfam_Collagen pfam_Collagen,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors CCBE1 HGNC ENSG00000183287 94 0 0 86 19 18.0952 LAMA1 0 genome.wustl.edu 37 18 7011407 7011407 + Silent SNP C C G TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 18 7011407 7011407 C G SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known silent c.3579 p.G1193 0.738 pfscan_Laminin_B_type_IV 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 25 0 0 9 8 47.0588 ANKRD12 0 genome.wustl.edu 37 18 9204526 9204526 + Silent SNP T T G TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 18 9204526 9204526 T G SNP ANKRD12 ENST00000262126 human ensembl 74_37 +1 known silent c.288 p.S96 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ENSG00000101745 58 0 0 46 6 11.5385 ILF3 0 genome.wustl.edu 37 19 10781680 10781680 + Missense_Mutation SNP C C T TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 19 10781680 10781680 C T SNP ILF3 ENST00000449870 human ensembl 74_37 +1 known missense c.34 p.R12C 1.000 NULL pfam_DZF,pfam_dsRNA-bd_dom,smart_DZF,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors ILF3 HGNC ENSG00000129351 33 0 0 29 2 6.45161 TSHZ3 0 genome.wustl.edu 37 19 31769921 31769921 + Missense_Mutation SNP G G A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 19 31769921 31769921 G A SNP TSHZ3 ENST00000240587 human ensembl 74_37 -1 known missense c.778 p.R260C 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 320 0 0 270 39 12.6214 LRFN3 0 genome.wustl.edu 37 19 36431169 36431169 + Missense_Mutation SNP G G A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 19 36431169 36431169 G A SNP LRFN3 ENST00000246529 human ensembl 74_37 +1 known missense c.842 p.R281H 1.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN3 HGNC ENSG00000126243 48 0 0 24 6 20 APBA3 0 genome.wustl.edu 37 19 3752514 3752514 + Missense_Mutation SNP C C T TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 19 3752514 3752514 C T SNP APBA3 ENST00000316757 human ensembl 74_37 -1 known missense c.1387 p.A463T 0.268 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA3 HGNC ENSG00000011132 17 0 0 4 4 50 CIC 0 genome.wustl.edu 37 19 42795827 42795827 + Missense_Mutation SNP G G C TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 19 42795827 42795827 G C SNP CIC ENST00000575354 human ensembl 74_37 +1 known missense c.2816 p.G939A 0.998 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors CIC HGNC ENSG00000079432 207 0 0 98 43 30.4965 ETHE1 0 genome.wustl.edu 37 19 44011007 44011007 + Missense_Mutation SNP C C A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 19 44011007 44011007 C A SNP ETHE1 ENST00000292147 human ensembl 74_37 -1 known missense c.760 p.A254S 0.082 NULL pfam_Beta-lactamas-like,smart_Beta-lactamas-like - no_errors ETHE1 HGNC ENSG00000105755 104 0 0 81 12 12.9032 SIGLEC22P 0 genome.wustl.edu 37 19 51715100 51715100 + RNA SNP C C T TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 19 51715100 51715100 C T SNP SIGLEC22P ENST00000602065 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SIGLEC22P HGNC ENSG00000268849 140 0 0 85 14 14.1414 SIGLEC10 0 genome.wustl.edu 37 19 51920084 51920084 + Missense_Mutation SNP G G A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 19 51920084 51920084 G A SNP SIGLEC10 ENST00000339313 human ensembl 74_37 -1 known missense c.542 p.T181M 0.006 pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC10 HGNC ENSG00000142512 111 0 0 78 12 13.3333 ZNF835 0 genome.wustl.edu 37 19 57175776 57175776 + Missense_Mutation SNP G G A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 19 57175776 57175776 G A SNP ZNF835 ENST00000537055 human ensembl 74_37 -1 known missense c.791 p.A264V 0.014 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF835 HGNC ENSG00000127903 69 0 0 25 4 13.7931 ZNF418 0 genome.wustl.edu 37 19 58438782 58438782 + Missense_Mutation SNP C C A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 19 58438782 58438782 C A SNP ZNF418 ENST00000396147 human ensembl 74_37 -1 known missense c.767 p.R256I 0.006 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 ZNF418 HGNC ENSG00000196724 146 0 0 108 18 14.2857 MAP2K7 0 genome.wustl.edu 37 19 7977041 7977041 + Missense_Mutation SNP A A G TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 19 7977041 7977041 A G SNP MAP2K7 ENST00000545011 human ensembl 74_37 +1 known missense c.1213 p.K405E 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 MAP2K7 HGNC ENSG00000076984 126 0 0 76 36 32.1429 FBXL12 0 genome.wustl.edu 37 19 9922033 9922033 + Missense_Mutation SNP G G A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 19 9922033 9922033 G A SNP FBXL12 ENST00000247977 human ensembl 74_37 -1 known missense c.520 p.R174C 0.001 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXL12 HGNC ENSG00000127452 131 0 0 88 19 17.757 COBLL1 0 genome.wustl.edu 37 2 165584554 165584554 + Nonsense_Mutation SNP G G A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 2 165584554 165584554 G A SNP COBLL1 ENST00000194871 human ensembl 74_37 -1 known nonsense c.745 p.Q249* 1.000 pfam_Cordon-bleu_ubiquitin_domain pfam_Cordon-bleu_ubiquitin_domain,pfscan_WH2_dom - no_errors COBLL1 HGNC ENSG00000082438 90 0 0 61 13 17.5676 TTN 0 genome.wustl.edu 37 2 179418418 179418418 + Missense_Mutation SNP C C T TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 2 179418418 179418418 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.81610 p.E27204K 0.997 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 77 0 0 59 6 9.23077 TTN 0 genome.wustl.edu 37 2 179659907 179659907 + Missense_Mutation SNP C C G TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 2 179659907 179659907 C G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.987 p.K329N 1.000 NULL 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 94 0 0 70 22 23.913 DYTN 0 genome.wustl.edu 37 2 207528029 207528029 + Nonsense_Mutation SNP C C A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 2 207528029 207528029 C A SNP DYTN ENST00000452335 human ensembl 74_37 -1 known nonsense c.1231 p.G411* 0.000 NULL pfam_EF-hand_dom_typ2,pfam_EF-hand_dom_typ1,pfam_Znf_ZZ,smart_Znf_ZZ,pfscan_Znf_ZZ - no_errors DYTN HGNC ENSG00000232125 89 0 0 61 9 12.8571 SPEG 0 genome.wustl.edu 37 2 220353344 220353344 + Silent SNP C C T TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 2 220353344 220353344 C T SNP SPEG ENST00000312358 human ensembl 74_37 +1 novel silent c.7983 p.N2661 0.955 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,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 SPEG HGNC ENSG00000072195 102 0 0 72 17 19.1011 NYAP2 0 genome.wustl.edu 37 2 226447619 226447619 + Missense_Mutation SNP G G A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 2 226447619 226447619 G A SNP NYAP2 ENST00000272907 human ensembl 74_37 +1 known missense c.1486 p.G496R 1.000 NULL NULL - no_errors NYAP2 HGNC ENSG00000144460 73 0 0 53 10 15.873 COL4A3 0 genome.wustl.edu 37 2 228124582 228124582 + Missense_Mutation SNP G G A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 2 228124582 228124582 G A SNP COL4A3 ENST00000396578 human ensembl 74_37 +1 known missense c.1103 p.R368H 0.841 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A3 HGNC ENSG00000169031 115 0 0 109 16 12.8 ARMC9 0 genome.wustl.edu 37 2 232100085 232100085 + Silent SNP C C T TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 2 232100085 232100085 C T SNP ARMC9 ENST00000349938 human ensembl 74_37 +1 known silent c.771 p.S257 0.993 NULL superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors ARMC9 HGNC ENSG00000135931 67 0 0 61 4 6.15385 LTBP1 0 genome.wustl.edu 37 2 33246091 33246091 + Silent SNP G G A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 2 33246091 33246091 G A SNP LTBP1 ENST00000354476 human ensembl 74_37 +1 known silent c.681 p.S227 0.045 NULL 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,pfscan_EG-like_dom - no_errors LTBP1 HGNC ENSG00000049323 327 0 0 295 36 10.8761 EIF2AK2 0 genome.wustl.edu 37 2 37365428 37365428 + Missense_Mutation SNP A A C TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 2 37365428 37365428 A C SNP EIF2AK2 ENST00000233057 human ensembl 74_37 -1 known missense c.672 p.S224R 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_dsRNA-bd_dom,superfamily_Kinase-like_dom,smart_dsRNA-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_dsRNA-bd_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EIF2AK2 HGNC ENSG00000055332 71 0 0 48 9 15.7895 GPR75 0 genome.wustl.edu 37 2 54080761 54080761 + Missense_Mutation SNP C C T TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 2 54080761 54080761 C T SNP GPR75 ENST00000394705 human ensembl 74_37 -1 known missense c.1133 p.R378Q 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR75 HGNC ENSG00000119737 114 0 0 112 18 13.8462 ANKRD36B 0 genome.wustl.edu 37 2 98206320 98206320 + RNA SNP C C A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 2 98206320 98206320 C A SNP ANKRD36B ENST00000443455 human ensembl 74_37 -1 known rna NULL NULL 0.022 - - - no_errors ANKRD36B HGNC ENSG00000196912 11 0 0 4 4 50 STK4 0 genome.wustl.edu 37 20 43625835 43625835 + Missense_Mutation SNP C C G TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 20 43625835 43625835 C G SNP STK4 ENST00000372806 human ensembl 74_37 +1 known missense c.719 p.P240R 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Mst1_SARAH_domain,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SARAH_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors STK4 HGNC ENSG00000101109 130 0 0 116 11 8.66142 CTCFL 0 genome.wustl.edu 37 20 56098733 56098733 + Missense_Mutation SNP T T C TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 20 56098733 56098733 T C SNP CTCFL ENST00000423479 human ensembl 74_37 -1 known missense c.529 p.T177A 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CTCFL HGNC ENSG00000124092 170 1 0.584795 185 37 16.6667 CTCFL 0 genome.wustl.edu 37 20 56099114 56099114 + Missense_Mutation SNP C C G TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 20 56099114 56099114 C G SNP CTCFL ENST00000423479 human ensembl 74_37 -1 known missense c.148 p.E50Q 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CTCFL HGNC ENSG00000124092 321 0 0 324 66 16.9231 PCK1 0 genome.wustl.edu 37 20 56136536 56136536 + Silent SNP A A G TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 20 56136536 56136536 A G SNP PCK1 ENST00000319441 human ensembl 74_37 +1 known silent c.69 p.L23 0.998 superfamily_PEP_carboxykinase_N,pirsf_PEP_carboxykinase_GTP pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N,pirsf_PEP_carboxykinase_GTP - no_errors PCK1 HGNC ENSG00000124253 223 0 0 209 28 11.8143 PCK1 0 genome.wustl.edu 37 20 56137798 56137798 + Silent SNP G G A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 20 56137798 56137798 G A SNP PCK1 ENST00000319441 human ensembl 74_37 +1 known silent c.453 p.S151 0.065 pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N,pirsf_PEP_carboxykinase_GTP pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N,pirsf_PEP_carboxykinase_GTP - no_errors PCK1 HGNC ENSG00000124253 84 0 0 91 10 9.90099 PCK1 0 genome.wustl.edu 37 20 56137807 56137807 + Silent SNP A A G TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 20 56137807 56137807 A G SNP PCK1 ENST00000319441 human ensembl 74_37 +1 known silent c.462 p.S154 0.828 pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N,pirsf_PEP_carboxykinase_GTP pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N,pirsf_PEP_carboxykinase_GTP - no_errors PCK1 HGNC ENSG00000124253 82 0 0 94 11 10.4762 NELFCD 0 genome.wustl.edu 37 20 57561860 57561860 + Missense_Mutation SNP A A C TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 20 57561860 57561860 A C SNP NELFCD ENST00000602795 human ensembl 74_37 +1 known missense c.282 p.E94D 1.000 pfam_TH1 pfam_TH1 - no_errors NELFCD HGNC ENSG00000101158 188 0 0 213 31 12.7049 MTG2 0 genome.wustl.edu 37 20 60768615 60768615 + Missense_Mutation SNP G G A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 20 60768615 60768615 G A SNP MTG2 ENST00000370823 human ensembl 74_37 +1 known missense c.139 p.G47S 0.007 NULL pfam_GTP1_OBG_dom,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GTP1_OBG_dom,pirsf_GTP-bd_Obg/CgtA,prints_GTP_binding_domain,tigrfam_GTP-bd_Obg/CgtA,tigrfam_Small_GTP-bd_dom - no_errors MTG2 HGNC ENSG00000101181 85 0 0 81 13 13.8298 LAMA5 0 genome.wustl.edu 37 20 60901986 60901986 + Missense_Mutation SNP G G A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 20 60901986 60901986 G A SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known missense c.5149 p.H1717Y 1.000 pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV 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 251 0 0 183 32 14.8837 LAMA5 0 genome.wustl.edu 37 20 60902389 60902389 + Missense_Mutation SNP G G A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 20 60902389 60902389 G A SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known missense c.5012 p.T1671M 0.000 pfscan_Laminin_B_type_IV 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 45 0 0 34 12 26.087 RPS21 0 genome.wustl.edu 37 20 60962943 60962943 + Silent SNP T T C TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 20 60962943 60962943 T C SNP RPS21 ENST00000370592 human ensembl 74_37 +1 known silent c.159 p.Y53 0.075 pfam_Ribosomal_S21e,pirsf_Ribosomal_S21e pfam_Ribosomal_S21e,pirsf_Ribosomal_S21e - no_errors RPS21 HGNC ENSG00000171858 98 0 0 112 19 14.5038 NTSR1 0 genome.wustl.edu 37 20 61391604 61391604 + Silent SNP C C A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 20 61391604 61391604 C A SNP NTSR1 ENST00000370501 human ensembl 74_37 +1 known silent c.1242 p.R414 0.996 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_NT1_rcpt,prints_GPCR_Rhodpsn,prints_NT_rcpt - no_errors NTSR1 HGNC ENSG00000101188 106 0 0 88 16 15.3846 DIDO1 0 genome.wustl.edu 37 20 61538601 61538601 + Silent SNP C C T TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 20 61538601 61538601 C T SNP DIDO1 ENST00000266070 human ensembl 74_37 -1 known silent c.1272 p.A424 0.682 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 294 0 0 279 28 9.12052 PRPF6 0 genome.wustl.edu 37 20 62657327 62657327 + Silent SNP C C T TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 20 62657327 62657327 C T SNP PRPF6 ENST00000266079 human ensembl 74_37 +1 known silent c.1944 p.A648 0.580 smart_HAT pfam_PRP1_N,smart_HAT,smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors PRPF6 HGNC ENSG00000101161 423 0 0 401 48 10.6904 CECR2 0 genome.wustl.edu 37 22 17983950 17983950 + Missense_Mutation SNP G G A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 22 17983950 17983950 G A SNP CECR2 ENST00000400573 human ensembl 74_37 +1 novel missense c.706 p.E236K 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors CECR2 HGNC ENSG00000099954 102 0 0 77 23 23 BMS1P20 0 genome.wustl.edu 37 22 22664141 22664141 + RNA SNP G G A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 22 22664141 22664141 G A SNP BMS1P20 ENST00000426066 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors BMS1P20 HGNC ENSG00000236850 125 0 0 94 6 6 P4HTM 0 genome.wustl.edu 37 3 49042339 49042339 + Missense_Mutation SNP C C G TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 3 49042339 49042339 C G SNP P4HTM ENST00000343546 human ensembl 74_37 +1 known missense c.933 p.S311R 0.096 smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors P4HTM HGNC ENSG00000178467 188 0 0 76 39 33.913 BSN 0 genome.wustl.edu 37 3 49680049 49680049 + Missense_Mutation SNP A A C TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 3 49680049 49680049 A C SNP BSN ENST00000296452 human ensembl 74_37 +1 known missense c.982 p.S328R 1.000 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 53 0 0 46 4 8 FAM212A 0 genome.wustl.edu 37 3 49842272 49842272 + Missense_Mutation SNP G G A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 3 49842272 49842272 G A SNP FAM212A ENST00000333323 human ensembl 74_37 +1 known missense c.716 p.R239K 1.000 NULL NULL - no_errors FAM212A HGNC ENSG00000185614 234 0 0 108 50 31.6456 ANK2 0 genome.wustl.edu 37 4 114264209 114264209 + Missense_Mutation SNP G G A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 4 114264209 114264209 G A SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known missense c.4159 p.G1387S 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 78 0 0 59 12 16.9014 ENPP6 0 genome.wustl.edu 37 4 185038990 185038990 + Silent SNP G G A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 4 185038990 185038990 G A SNP ENPP6 ENST00000296741 human ensembl 74_37 -1 known silent c.597 p.Y199 0.128 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ENPP6 HGNC ENSG00000164303 106 0 0 75 12 13.7931 BRD8 0 genome.wustl.edu 37 5 137503737 137503737 + Missense_Mutation SNP C C A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 5 137503737 137503737 C A SNP BRD8 ENST00000254900 human ensembl 74_37 -1 known missense c.673 p.G225C 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 173 1 0.574713 83 38 31.405 BRD8 0 genome.wustl.edu 37 5 137503739 137503739 + Missense_Mutation SNP G G A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 5 137503739 137503739 G A SNP BRD8 ENST00000254900 human ensembl 74_37 -1 known missense c.671 p.S224F 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 171 0 0 78 55 41.3534 PCDHA7 0 genome.wustl.edu 37 5 140215213 140215213 + Silent SNP C C T TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 5 140215213 140215213 C T SNP PCDHA7 ENST00000525929 human ensembl 74_37 +1 known silent c.1245 p.R415 0.951 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA7 HGNC ENSG00000204963 315 0 0 208 38 15.4472 PCDHGB4 0 genome.wustl.edu 37 5 140769318 140769318 + Missense_Mutation SNP G G A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 5 140769318 140769318 G A SNP PCDHGB4 ENST00000519479 human ensembl 74_37 +1 known missense c.1867 p.E623K 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB4 HGNC ENSG00000253953 141 0 0 68 10 12.8205 GRIA1 0 genome.wustl.edu 37 5 153077664 153077664 + Missense_Mutation SNP G G A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 5 153077664 153077664 G A SNP GRIA1 ENST00000448073 human ensembl 74_37 +1 known missense c.1225 p.G409S 0.922 NULL pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA1 HGNC ENSG00000155511 86 0 0 53 8 13.1148 RNF145 0 genome.wustl.edu 37 5 158630642 158630642 + Missense_Mutation SNP T T C TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 5 158630642 158630642 T C SNP RNF145 ENST00000518802 human ensembl 74_37 -1 known missense c.74 p.K25R 0.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF145 HGNC ENSG00000145860 53 0 0 30 6 16.6667 DOCK2 0 genome.wustl.edu 37 5 169435708 169435708 + Missense_Mutation SNP C C T TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 5 169435708 169435708 C T SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known missense c.3190 p.R1064W 1.000 superfamily_ARM-type_fold,superfamily_Ferritin-like_SF pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 144 0 0 90 18 16.6667 AACSP1 0 genome.wustl.edu 37 5 178202284 178202284 + RNA SNP T T C TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 5 178202284 178202284 T C SNP AACSP1 ENST00000503486 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors AACSP1 HGNC ENSG00000250420 8 0 0 2 3 60 HLA-DRB6 0 genome.wustl.edu 37 6 32521700 32521700 + RNA SNP G G A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 6 32521700 32521700 G A SNP HLA-DRB6 ENST00000411500 human ensembl 74_37 -1 known rna NULL NULL 0.023 - - - no_errors HLA-DRB6 HGNC ENSG00000229391 24 0 0 13 3 18.75 TREML3P 0 genome.wustl.edu 37 6 41185458 41185458 + RNA SNP A A C TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 6 41185458 41185458 A C SNP TREML3P ENST00000564680 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors TREML3P HGNC ENSG00000184106 41 0 0 21 4 16 ABCC10 0 genome.wustl.edu 37 6 43406375 43406375 + Missense_Mutation SNP G G A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 6 43406375 43406375 G A SNP ABCC10 ENST00000372530 human ensembl 74_37 +1 known missense c.1969 p.V657M 0.320 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC10 HGNC ENSG00000124574 108 0 0 88 12 12 LRRN3 0 genome.wustl.edu 37 7 110764041 110764041 + Nonsense_Mutation SNP C C T TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 7 110764041 110764041 C T SNP LRRN3 ENST00000308478 human ensembl 74_37 +1 known nonsense c.1213 p.Q405* 1.000 smart_Cys-rich_flank_reg_C pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRRN3 HGNC ENSG00000173114 110 0 0 62 12 16.2162 ST7 0 genome.wustl.edu 37 7 116776295 116776295 + Missense_Mutation SNP G G T TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 7 116776295 116776295 G T SNP ST7 ENST00000465133 human ensembl 74_37 +1 putative missense c.673 p.V225F 0.990 NULL pfam_ST7 - no_errors ST7 HGNC ENSG00000004866 106 0 0 89 11 11 SLC13A1 0 genome.wustl.edu 37 7 122765622 122765622 + Splice_Site SNP C C A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 7 122765622 122765622 C A SNP SLC13A1 ENST00000194130 human ensembl 74_37 -1 known splice_site c.1240+1 e11+1 1.000 - - - no_errors SLC13A1 HGNC ENSG00000081800 90 0 0 61 5 7.57576 ABCA13 0 genome.wustl.edu 37 7 48314798 48314798 + Silent SNP G G T TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 7 48314798 48314798 G T SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known silent c.5535 p.G1845 0.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 58 0 0 40 4 9.09091 STYXL1 0 genome.wustl.edu 37 7 75643121 75643121 + Missense_Mutation SNP T T C TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 7 75643121 75643121 T C SNP STYXL1 ENST00000248600 human ensembl 74_37 -1 known missense c.392 p.Y131C 0.999 pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors STYXL1 HGNC ENSG00000127952 379 0 0 275 64 18.8791 BLK 0 genome.wustl.edu 37 8 11400775 11400775 + Silent SNP G G A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 8 11400775 11400775 G A SNP BLK ENST00000259089 human ensembl 74_37 +1 known silent c.42 p.P14 0.559 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors BLK HGNC ENSG00000136573 103 0 0 69 13 15.8537 TG 0 genome.wustl.edu 37 8 133925324 133925324 + Missense_Mutation SNP C C T TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 8 133925324 133925324 C T SNP TG ENST00000220616 human ensembl 74_37 +1 known missense c.4192 p.R1398C 0.889 pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 65 0 0 59 14 19.1781 DOCK5 0 genome.wustl.edu 37 8 25216495 25216495 + Missense_Mutation SNP G G T TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 8 25216495 25216495 G T SNP DOCK5 ENST00000276440 human ensembl 74_37 +1 known missense c.2867 p.C956F 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK5 HGNC ENSG00000147459 211 0 0 111 34 23.4483 PXDNL 0 genome.wustl.edu 37 8 52322023 52322023 + Missense_Mutation SNP G G A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 8 52322023 52322023 G A SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known missense c.2161 p.R721W 0.969 superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 80 0 0 50 10 16.6667 RGS20 0 genome.wustl.edu 37 8 54871000 54871000 + Missense_Mutation SNP G G T TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 8 54871000 54871000 G T SNP RGS20 ENST00000297313 human ensembl 74_37 +1 known missense c.1149 p.E383D 0.999 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS20 HGNC ENSG00000147509 24 0 0 17 5 22.7273 TRIM32 0 genome.wustl.edu 37 9 119461675 119461675 + Missense_Mutation SNP A A T TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 9 119461675 119461675 A T SNP TRIM32 ENST00000373983 human ensembl 74_37 +1 known missense c.1654 p.I552F 1.000 NULL pfam_NHL_repeat,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM32 HGNC ENSG00000119401 84 0 0 61 5 7.57576 CACNA1B 0 genome.wustl.edu 37 9 140773594 140773594 + Missense_Mutation SNP C C T TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 9 140773594 140773594 C T SNP CACNA1B ENST00000371355 human ensembl 74_37 +1 known missense c.373 p.P125S 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC ENSG00000148408 46 0 0 48 9 15.7895 CER1 0 genome.wustl.edu 37 9 14720143 14720143 + Missense_Mutation SNP C C T TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 9 14720143 14720143 C T SNP CER1 ENST00000380911 human ensembl 74_37 -1 known missense c.749 p.G250E 0.000 pfam_Cys_knot,pirsf_Cerberus pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C,pirsf_Cerberus,pfscan_Cys_knot_C - no_errors CER1 HGNC ENSG00000147869 80 0 0 85 20 19.0476 ENSG00000231242 0 genome.wustl.edu 37 9 69083073 69083073 + RNA SNP G G T TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 9 69083073 69083073 G T SNP ENSG00000231242 ENST00000412376 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-87H9.3 Clone_based_vega_gene ENSG00000231242 10 0 0 2 2 50 MT-RNR2 0 genome.wustl.edu 37 MT 2573 2573 + RNA SNP G G A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 MT 2573 2573 G A SNP MT-RNR2 ENST00000387347 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR2 HGNC ENSG00000210082 179 0 0 2 7 77.7778 SLITRK2 0 genome.wustl.edu 37 X 144904988 144904988 + Nonsense_Mutation SNP C C T TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 X 144904988 144904988 C T SNP SLITRK2 ENST00000370490 human ensembl 74_37 +1 known nonsense c.1045 p.Q349* 1.000 smart_LRR-contain_N pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK2 HGNC ENSG00000185985 53 0 0 29 10 25.641 MAGEB1 0 genome.wustl.edu 37 X 30269612 30269612 + Silent SNP G G A TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 X 30269612 30269612 G A SNP MAGEB1 ENST00000378981 human ensembl 74_37 +1 known silent c.1002 p.A334 0.000 NULL pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB1 HGNC ENSG00000214107 70 0 0 55 4 6.77966 PCDH11X 0 genome.wustl.edu 37 X 91132884 91132884 + Missense_Mutation SNP C C T TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 X 91132884 91132884 C T SNP PCDH11X ENST00000373094 human ensembl 74_37 +1 known missense c.1645 p.P549S 0.003 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 75 0 0 63 5 7.35294 DNM1P47 0 genome.wustl.edu 37 15 102293062 102293064 + RNA DEL CTC CTC - TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 15 102293062 102293064 CTC - DEL DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 1.000:1.000:0.999 - - - no_errors DNM1P47 HGNC ENSG00000259660 32 0 0 26 4 13.3333 SERPINB10 0 genome.wustl.edu 37 18 61584739 61584739 + Frame_Shift_Del DEL A A - TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 18 61584739 61584739 A - DEL SERPINB10 ENST00000238508 human ensembl 74_37 +1 known frame_shift_del c.218 p.R76fs 0.998 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB10 HGNC ENSG00000242550 25 0 0 14 2 12.5 TAF1B 0 genome.wustl.edu 37 2 9989571 9989571 + Frame_Shift_Del DEL A A - TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 2 9989571 9989571 A - DEL TAF1B ENST00000263663 human ensembl 74_37 +1 known frame_shift_del c.187 p.N66fs 0.991 NULL pfam_TF_Rrn7 - no_errors TAF1B HGNC ENSG00000115750 8 0 0 11 4 26.6667 KIAA1109 0 genome.wustl.edu 37 4 123236709 123236720 + In_Frame_Del DEL AATGCTCTGGGC AATGCTCTGGGC - TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 AATGCTCTGGGC AATGCTCTGGGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 4 123236709 123236720 AATGCTCTGGGC - DEL KIAA1109 ENST00000264501 human ensembl 74_37 +1 known in_frame_del c.10405_10416 p.ALGN3470in_frame_del 1.000:1.000:0.999:1.000:1.000:0.993:1.000:1.000:1.000:1.000:1.000:0.997 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 200 0 0 166 13 7.26257 MIR574 0 genome.wustl.edu 37 4 38869679 38869680 + RNA INS - - GT TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 4 38869679 38869680 - GT INS MIR574 ENST00000385209 human ensembl 74_37 +1 known rna NULL NULL 1.000:1.000 - - - no_errors MIR574 HGNC ENSG00000207944 18 0 0 5 2 28.5714 LOC101927550 0 genome.wustl.edu 37 7 98630588 98630588 + RNA DEL A A - TCGA-HU-8610-01A-22D-2394-08 TCGA-HU-8610-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1469c2ef-0b9a-4029-baae-b234b857894b 001cfcd7-98cd-427a-9fed-2c6ed7999033 7 98630588 98630588 A - DEL LOC101927550 ENST00000360902 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AC004893.11 Clone_based_vega_gene ENSG00000242687 25 0 0 18 3 14.2857