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 MT-ATP6 4508 genome.wustl.edu 36 MT 8731 8731 + Silent SNP A G G novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe MT 8731 8731 A G SNP MT-ATP6 ENST00000361899 human ensembl 54_36p +1 known silent c.204 p.W68 NULL HMMPfam_ATP-synt_A,superfamily_ATPase_F0_A HMMPfam_ATP-synt_A,superfamily_ATPase_F0_A,PatternScan_ATPASE_A - no_errors CNTN6 27255 genome.wustl.edu 36 3 1402457 1402457 + Missense_Mutation SNP G G A novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 3 1402457 1402457 G A SNP CNTN6 NM_014461 human genbank 54_36p +1 reviewed missense c.2680 p.V894I 0.997 superfamily_FN_III-like superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2,HMMSmart_IG,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3 - no_errors ENSG00000185986 0 genome.wustl.edu 36 5 1627405 1627405 + Missense_Mutation SNP C C G novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 5 1627405 1627405 C G SNP ENSG00000185986 ENST00000354559 human ensembl 54_36p -1 known missense c.246 p.Q82H 0.989 HMMPfam_Succ_DH_flav_C,superfamily_Succ_DH_flav_C HMMPfam_Succ_DH_flav_C,superfamily_Succ_DH_flav_C - no_errors SGSM2 9905 genome.wustl.edu 36 17 2211725 2211725 + Missense_Mutation SNP G T T novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 17 2211725 2211725 G T SNP SGSM2 NM_014853 human genbank 54_36p +1 validated missense c.178 p.A60S 1.000 HMMPfam_RUN HMMPfam_RUN,HMMSmart_RUN,superfamily_RabGAP_TBC,HMMSmart_TBC,HMMPfam_TBC - no_errors EIF3B 8662 genome.wustl.edu 36 7 2369866 2369866 + Missense_Mutation SNP G G A novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 7 2369866 2369866 G A SNP EIF3B NM_001037283 human genbank 54_36p +1 validated missense c.944 p.R315H 1.000 superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1,superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain,HMMPfam_eIF2A - no_errors THOC6 79228 genome.wustl.edu 36 16 3017646 3017646 + Missense_Mutation SNP C C G novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 16 3017646 3017646 C G SNP THOC6 NM_024339 human genbank 54_36p +1 validated missense c.1013 p.S338C 1.000 NULL superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1 - no_errors ZNF213 7760 genome.wustl.edu 36 16 3129055 3129055 + Missense_Mutation SNP C C G novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 16 3129055 3129055 C G SNP ZNF213 NM_004220 human genbank 54_36p +1 validated missense c.676 p.L226V 1.000 superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349 HMMPfam_SCAN,HMMSmart_SM00431,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors RFX3 5991 genome.wustl.edu 36 9 3253047 3253047 + Missense_Mutation SNP C C G novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 9 3253047 3253047 C G SNP RFX3 NM_134428 human genbank 54_36p -1 reviewed missense c.1493 p.R498T 1.000 NULL "HMMPfam_RFX1_trans_act,HMMPfam_RFX_DNA_binding,superfamily_""Winged helix"" DNA-binding domain" - no_errors KCNA5 3741 genome.wustl.edu 36 12 5024724 5024724 + Missense_Mutation SNP G G A novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 12 5024724 5024724 G A SNP KCNA5 NM_002234 human genbank 54_36p +1 reviewed missense c.1150 p.G384R 0.016 superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans superfamily_POZ domain,HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans - no_errors ALG1 56052 genome.wustl.edu 36 16 5065432 5065432 + Missense_Mutation SNP G G A novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 16 5065432 5065432 G A SNP ALG1 NM_019109 human genbank 54_36p +1 reviewed missense c.433 p.G145S 0.964 superfamily_SSF53756 superfamily_SSF53756,HMMPfam_Glycos_transf_1 - no_errors USP42 84132 genome.wustl.edu 36 7 6149157 6149157 + Silent SNP G G C novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 7 6149157 6149157 G C SNP USP42 ENST00000404835 human ensembl 54_36p +1 known silent c.864 p.S288 1.000 superfamily_Cysteine proteinases,HMMPfam_UCH superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2,PatternScan_IG_MHC - no_errors CHD4 1108 genome.wustl.edu 36 12 6580434 6580434 + Silent SNP A A G novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 12 6580434 6580434 A G SNP CHD4 NM_001273 human genbank 54_36p -1 reviewed silent c.846 p.D282 0.985 NULL HMMPfam_CHDNT,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,HMMSmart_SM00298,superfamily_Chromo domain-like,PatternScan_CHROMO_1,HMMPfam_Chromo,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_SNF2_N,PatternScan_DEAH_ATP_HELICASE,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_DUF1087,HMMPfam_DUF1086,HMMPfam_CHDCT2 - no_errors FOXJ2 55810 genome.wustl.edu 36 12 8096673 8096673 + Missense_Mutation SNP A A T novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 12 8096673 8096673 A T SNP FOXJ2 NM_018416 human genbank 54_36p +1 validated missense c.1685 p.E562V 1.000 NULL "HMMSmart_SM00339,superfamily_""Winged helix"" DNA-binding domain,HMMPfam_Fork_head,PatternScan_FORK_HEAD_2" - no_errors ENSG00000205959 0 genome.wustl.edu 36 4 8563070 8563070 + Silent SNP C T T novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 4 8563070 8563070 C T SNP ENSG00000205959 ENST00000382488 human ensembl 54_36p +1 known silent c.693 p.P231 0.000 NULL NULL - no_errors CPZ 8532 genome.wustl.edu 36 4 8656648 8656648 + Missense_Mutation SNP C T T novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 4 8656648 8656648 C T SNP CPZ NM_001014447 human genbank 54_36p +1 reviewed missense c.542 p.T181I 0.066 superfamily_Zn-dependent exopeptidases HMMPfam_Fz,superfamily_Frizzled cysteine-rich domain,HMMSmart_SM00063,superfamily_Zn-dependent exopeptidases,HMMPfam_Peptidase_M14,HMMSmart_SM00631,PatternScan_CARBOXYPEPT_ZN_2,superfamily_Carboxypeptidase regulatory domain - no_errors TARDBP 23435 genome.wustl.edu 36 1 11004786 11004786 + Nonsense_Mutation SNP G G T novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 1 11004786 11004786 G T SNP TARDBP NM_007375 human genbank 54_36p +1 reviewed nonsense c.733 p.G245* 1.000 superfamily_RNA-binding domain RBD,HMMSmart_SM00360 superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1 - no_errors ZNF44 51710 genome.wustl.edu 36 19 12245464 12245464 + Missense_Mutation SNP A A C novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 19 12245464 12245464 A C SNP ZNF44 NM_016264 human genbank 54_36p -1 provisional missense c.606 p.C202W 1.000 superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors NBAS 51594 genome.wustl.edu 36 2 15334445 15334445 + Silent SNP C C T novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 2 15334445 15334445 C T SNP NBAS NM_015909 human genbank 54_36p -1 validated silent c.5370 p.K1790 0.991 NULL superfamily_WD40 repeat-like,HMMPfam_Sec39,PatternScan_RIBOSOMAL_S14 - no_errors ELA2A 63036 genome.wustl.edu 36 1 15656215 15656215 + Missense_Mutation SNP G G T novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 1 15656215 15656215 G T SNP ELA2A NM_033440 human genbank 54_36p +1 reviewed missense c.88 p.V30F 0.999 superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER - no_errors RDH14 57665 genome.wustl.edu 36 2 18600493 18600493 + Missense_Mutation SNP C C G novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 2 18600493 18600493 C G SNP RDH14 NM_020905 human genbank 54_36p -1 validated missense c.456 p.K152N 1.000 superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_adh_short superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_adh_short - no_errors MRTO4 51154 genome.wustl.edu 36 1 19456595 19456595 + Missense_Mutation SNP G G A novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 1 19456595 19456595 G A SNP MRTO4 NM_016183 human genbank 54_36p +1 reviewed missense c.334 p.V112M 1.000 HMMPfam_Ribosomal_L10 HMMPfam_Ribosomal_L10 - no_errors KIAA1967 57805 genome.wustl.edu 36 8 22519593 22519593 + Missense_Mutation SNP C C T novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 8 22519593 22519593 C T SNP KIAA1967 NM_021174 human genbank 54_36p +1 validated missense c.109 p.P37S 1.000 NULL NULL - no_errors AP1G2 8906 genome.wustl.edu 36 14 23106246 23106246 + Missense_Mutation SNP G G A novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 14 23106246 23106246 G A SNP AP1G2 NM_003917 human genbank 54_36p -1 reviewed missense c.118 p.R40C 1.000 superfamily_ARM-type_fold,HMMPfam_Adaptin_N superfamily_ARM-type_fold,HMMPfam_Adaptin_N,superfamily_Clath_adapt,HMMPfam_Alpha_adaptinC2,HMMSmart_Alpha_adaptinC2 - no_errors PALB2 79728 genome.wustl.edu 36 16 23553870 23553870 + Missense_Mutation SNP A A G novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 16 23553870 23553870 A G SNP PALB2 NM_024675 human genbank 54_36p -1 reviewed missense c.1498 p.S500P 0.000 NULL PatternScan_WD_REPEATS_1,superfamily_WD40_like - no_errors NLP 22981 genome.wustl.edu 36 20 25407747 25407747 + Silent SNP C C T novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 20 25407747 25407747 C T SNP NLP NM_025176 human genbank 54_36p -1 validated silent c.2013 p.V671 0.783 NULL superfamily_SSF47473,HMMSmart_EFh,HMMPfam_efhand,PatternScan_EF_HAND_1 - no_errors HIST1H1E 3008 genome.wustl.edu 36 6 26264779 26264779 + Missense_Mutation SNP C C A novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 6 26264779 26264779 C A SNP HIST1H1E NM_005321 human genbank 54_36p +1 reviewed missense c.182 p.A61D 1.000 "superfamily_""Winged helix"" DNA-binding domain,HMMSmart_SM00526,HMMPfam_Linker_histone" "superfamily_""Winged helix"" DNA-binding domain,HMMSmart_SM00526,HMMPfam_Linker_histone" - no_errors KIF13B 23303 genome.wustl.edu 36 8 29032371 29032371 + Missense_Mutation SNP G T T novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 8 29032371 29032371 G T SNP KIF13B NM_015254 human genbank 54_36p -1 validated missense c.3593 p.A1198E 1.000 NULL HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_SMAD/FHA domain,HMMPfam_FHA,superfamily_Cap-Gly domain,HMMPfam_CAP_GLY,PatternScan_CAP_GLY_1 - no_errors TRPM1 4308 genome.wustl.edu 36 15 29121699 29121699 + Missense_Mutation SNP T T C novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 15 29121699 29121699 T C SNP TRPM1 NM_002420 human genbank 54_36p -1 reviewed missense c.1768 p.K590E 1.000 NULL HMMPfam_Ion_trans - no_errors KLF13 51621 genome.wustl.edu 36 15 29451664 29451664 + Missense_Mutation SNP C T T novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 15 29451664 29451664 C T SNP KLF13 NM_015995 human genbank 54_36p +1 validated missense c.737 p.A246V 1.000 superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_SSF57667 - no_errors SCRN1 9805 genome.wustl.edu 36 7 29946871 29946871 + Missense_Mutation SNP C C G novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 7 29946871 29946871 C G SNP SCRN1 NM_014766 human genbank 54_36p -1 reviewed missense c.691 p.D231H 1.000 NULL NULL - no_errors FBXO7 25793 genome.wustl.edu 36 22 31205251 31205251 + Missense_Mutation SNP G G T novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 22 31205251 31205251 G T SNP FBXO7 NM_012179 human genbank 54_36p +1 reviewed missense c.406 p.D136Y 0.016 NULL superfamily_SSF81383,HMMPfam_F-box,HMMSmart_FBOX - no_errors PDE1C 5137 genome.wustl.edu 36 7 31844103 31844103 + Missense_Mutation SNP G G C novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 7 31844103 31844103 G C SNP PDE1C NM_005020 human genbank 54_36p -1 provisional missense c.988 p.R330G 1.000 superfamily_SSF109604,HMMSmart_HDc,HMMPfam_PDEase_I HMMPfam_PDEase_I_N,superfamily_SSF109604,HMMSmart_HDc,HMMPfam_PDEase_I,PatternScan_PDEASE_I - no_errors NOTCH4 4855 genome.wustl.edu 36 6 32288889 32288889 + Splice_Site SNP C C T novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 6 32288889 32288889 C T SNP NOTCH4 NM_004557 human genbank 54_36p -1 reviewed splice_site c.2438+1 e15+1 0.843 - - - no_errors LOC100131609 0 genome.wustl.edu 36 6 32401962 32401962 + RNA SNP G G A novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 6 32401962 32401962 G A SNP LOC100131609 XR_039222 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene C10orf68 79741 genome.wustl.edu 36 10 33175320 33175320 + Silent SNP A A G novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 10 33175320 33175320 A G SNP C10orf68 NM_024688 human genbank 54_36p +1 validated silent c.1344 p.K448 0.001 NULL NULL - no_errors LOC401847 401847 genome.wustl.edu 36 16 33513022 33513022 + Missense_Mutation SNP C C A novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 16 33513022 33513022 C A SNP LOC401847 XM_001718104 human genbank 54_36p +1 model missense c.826 p.L276M 0.997 HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00406 superfamily_Alkaline phosphatase-like,HMMPfam_Phosphodiest,HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00406 - no_errors ALG10 84920 genome.wustl.edu 36 12 34070354 34070354 + Missense_Mutation SNP T T C novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 12 34070354 34070354 T C SNP ALG10 NM_032834 human genbank 54_36p +1 validated missense c.659 p.L220P 0.024 HMMPfam_DIE2_ALG10 HMMPfam_DIE2_ALG10 - no_errors C9orf131 138724 genome.wustl.edu 36 9 35034783 35034783 + Silent SNP C C T novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 9 35034783 35034783 C T SNP C9orf131 NM_203299 human genbank 54_36p +1 validated silent c.2157 p.S719 0.065 NULL NULL - no_errors LOC728707 728707 genome.wustl.edu 36 5 37541531 37541531 + RNA SNP C C T novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 5 37541531 37541531 C T SNP LOC728707 XR_015588 human genbank 54_36p -1 model rna NULL NULL 0.042 - - - pseudogene RUNDC1 146923 genome.wustl.edu 36 17 38396827 38396827 + Missense_Mutation SNP G G A novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 17 38396827 38396827 G A SNP RUNDC1 NM_173079 human genbank 54_36p +1 validated missense c.1410 p.M470I 1.000 HMMPfam_RUN HMMPfam_RUN,HMMSmart_SM00593 - no_errors SH3BGR 6450 genome.wustl.edu 36 21 39805568 39805568 + Missense_Mutation SNP C C T novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 21 39805568 39805568 C T SNP SH3BGR NM_007341 human genbank 54_36p +1 validated missense c.716 p.S239F 0.750 NULL superfamily_Thiordxn-like_fd,HMMPfam_SH3BGR - no_errors TTC17 55761 genome.wustl.edu 36 11 43468373 43468373 + Silent SNP G G A novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 11 43468373 43468373 G A SNP TTC17 NM_018259 human genbank 54_36p +1 provisional silent c.3039 p.T1013 0.035 superfamily_SSF48452 superfamily_SSF48452,HMMPfam_TPR_1,HMMSmart_TPR - no_errors NFE2L1 4779 genome.wustl.edu 36 17 43491558 43491558 + Silent SNP C C T novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 17 43491558 43491558 C T SNP NFE2L1 NM_003204 human genbank 54_36p +1 validated silent c.1875 p.F625 1.000 superfamily_A DNA-binding domain in eukaryotic transcription factors superfamily_A DNA-binding domain in eukaryotic transcription factors,HMMPfam_bZIP_2,HMMSmart_SM00338,PatternScan_BZIP_BASIC - no_errors LOC553158 553158 genome.wustl.edu 36 22 43589254 43589254 + Missense_Mutation SNP C C T novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 22 43589254 43589254 C T SNP LOC553158 NM_181334 human genbank 54_36p +1 reviewed missense c.446 p.P149L 1.000 superfamily_CRAL_TRIO_C,HMMSmart_SEC14 superfamily_CRAL_TRIO_C,HMMSmart_SEC14,superfamily_Rho_GAP,HMMSmart_RhoGAP,HMMPfam_RhoGAP - no_errors ZNF197 10168 genome.wustl.edu 36 3 44658804 44658804 + Missense_Mutation SNP C C G novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 3 44658804 44658804 C G SNP ZNF197 NM_006991 human genbank 54_36p +1 reviewed missense c.1178 p.T393S 0.936 superfamily_C2H2 and C2HC zinc fingers HMMPfam_SCAN,HMMSmart_SM00431,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2 - no_errors PRX 57716 genome.wustl.edu 36 19 45594215 45594215 + Missense_Mutation SNP C A A novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 19 45594215 45594215 C A SNP PRX NM_181882 human genbank 54_36p -1 reviewed missense c.1884 p.E628D 0.000 NULL HMMPfam_PDZ,superfamily_PDZ domain-like,HMMSmart_SM00228 - no_errors EGLN2 112398 genome.wustl.edu 36 19 46004925 46004925 + Missense_Mutation SNP G A A novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 19 46004925 46004925 G A SNP EGLN2 NM_053046 human genbank 54_36p +1 reviewed missense c.1006 p.V336M 0.990 HMMSmart_SM00702,HMMPfam_2OG-FeII_Oxy HMMSmart_SM00702,HMMPfam_2OG-FeII_Oxy - no_errors SETD2 29072 genome.wustl.edu 36 3 47073689 47073689 + Missense_Mutation SNP C C G novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 3 47073689 47073689 C G SNP SETD2 NM_014159 human genbank 54_36p -1 reviewed missense c.5080 p.V1694L 1.000 NULL superfamily_Ferritin/RR_like,superfamily_SSF82199,HMMSmart_AWS,HMMPfam_SET,HMMSmart_SET,HMMSmart_PostSET,superfamily_WW_Rsp5_WWP,HMMSmart_WW,HMMPfam_WW,PatternScan_WW_DOMAIN_1,HMMPfam_SRI_2 - no_errors GPR110 266977 genome.wustl.edu 36 6 47085854 47085854 + Missense_Mutation SNP G G A novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 6 47085854 47085854 G A SNP GPR110 NM_153840 human genbank 54_36p -1 validated missense c.1276 p.R426W 0.000 NULL superfamily_SEA domain,HMMPfam_SEA,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2 - no_errors CALM2 805 genome.wustl.edu 36 2 47242931 47242931 + Missense_Mutation SNP T T C novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 2 47242931 47242931 T C SNP CALM2 NM_001743 human genbank 54_36p -1 provisional missense c.283 p.K95E 1.000 superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1 superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1 - no_errors KLRAQ1 129285 genome.wustl.edu 36 2 48555333 48555333 + Missense_Mutation SNP G G A novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 2 48555333 48555333 G A SNP KLRAQ1 NM_152994 human genbank 54_36p +1 validated missense c.1096 p.E366K 1.000 HMMPfam_TTKRSYEDQ HMMPfam_KLRAQ,HMMPfam_TTKRSYEDQ - no_errors GPD1 2819 genome.wustl.edu 36 12 48786952 48786952 + Silent SNP C C A novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 12 48786952 48786952 C A SNP GPD1 NM_005276 human genbank 54_36p +1 provisional silent c.597 p.I199 1.000 HMMPfam_NAD_Gly3P_dh_C,superfamily_6DGDH_C_like superfamily_NAD(P)-bd,HMMPfam_NAD_Gly3P_dh_N,HMMPfam_NAD_Gly3P_dh_C,superfamily_6DGDH_C_like,PatternScan_NAD_G3PDH - no_errors CRISP3 10321 genome.wustl.edu 36 6 49812123 49812123 + Silent SNP C C T novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 6 49812123 49812123 C T SNP CRISP3 NM_006061 human genbank 54_36p -1 provisional silent c.129 p.V43 0.951 superfamily_SCP-like_extracellular,HMMSmart_SCP,HMMPfam_SCP superfamily_SCP-like_extracellular,HMMSmart_SCP,HMMPfam_SCP,PatternScan_CRISP_1,PatternScan_CRISP_2,HMMPfam_Crisp - no_errors MST1R 4486 genome.wustl.edu 36 3 49899853 49899853 + Missense_Mutation SNP G G T novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 3 49899853 49899853 G T SNP MST1R NM_002447 human genbank 54_36p -1 validated missense c.4094 p.P1365H 0.925 superfamily_Protein kinase-like (PK-like) superfamily_Sema domain,HMMSmart_SM00630,HMMPfam_Sema,superfamily_Plexin repeat,HMMPfam_PSI,HMMSmart_SM00423,superfamily_E set domains,HMMSmart_SM00429,HMMPfam_TIG,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR - no_errors OR4C13 283092 genome.wustl.edu 36 11 49930737 49930737 + Missense_Mutation SNP T T C novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 11 49930737 49930737 T C SNP OR4C13 NM_001001955 human genbank 54_36p +1 provisional missense c.187 p.Y63H 0.000 superfamily_SSF81321,HMMPfam_7tm_1 PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1 - no_errors LOC130728 130728 genome.wustl.edu 36 2 49959609 49959609 + RNA SNP A A G novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 2 49959609 49959609 A G SNP LOC130728 XR_017361 human genbank 54_36p +1 model rna NULL NULL 0.997 - - - pseudogene PKHD1 5314 genome.wustl.edu 36 6 51632396 51632396 + Missense_Mutation SNP A A C novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 6 51632396 51632396 A C SNP PKHD1 NM_138694 human genbank 54_36p -1 reviewed missense c.10487 p.L3496W 0.611 NULL superfamily_E set domains,HMMSmart_SM00429,HMMPfam_TIG,HMMSmart_SM00710,HMMPfam_G8,superfamily_Pectin lyase-like - no_errors TMEM14A 28978 genome.wustl.edu 36 6 52654651 52654651 + Missense_Mutation SNP G G A novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 6 52654651 52654651 G A SNP TMEM14A NM_014051 human genbank 54_36p +1 validated missense c.152 p.R51Q 0.989 HMMPfam_Tmemb_14 HMMPfam_Tmemb_14 - no_errors PLEKHA4 57664 genome.wustl.edu 36 19 54054661 54054661 + Missense_Mutation SNP C C T novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 19 54054661 54054661 C T SNP PLEKHA4 NM_020904 human genbank 54_36p -1 provisional missense c.569 p.R190H 0.015 NULL superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233 - no_errors SILV 6490 genome.wustl.edu 36 12 54641752 54641752 + Silent SNP T T G novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 12 54641752 54641752 T G SNP SILV NM_006928 human genbank 54_36p -1 validated silent c.108 p.S36 0.979 NULL superfamily_PKD domain,HMMPfam_PKD,HMMSmart_SM00089 - no_errors HCRTR2 3062 genome.wustl.edu 36 6 55221496 55221496 + Silent SNP T T G novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 6 55221496 55221496 T G SNP HCRTR2 NM_001526 human genbank 54_36p +1 reviewed silent c.324 p.L108 1.000 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,HMMPfam_Orexin_rec2 - no_errors ZNF83 55769 genome.wustl.edu 36 19 57809433 57809433 + Missense_Mutation SNP T T C novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 19 57809433 57809433 T C SNP ZNF83 NM_001105549 human genbank 54_36p -1 validated missense c.197 p.H66R 0.003 NULL superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors PHACTR3 116154 genome.wustl.edu 36 20 57814502 57814502 + Missense_Mutation SNP C C T novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 20 57814502 57814502 C T SNP PHACTR3 NM_080672 human genbank 54_36p +1 reviewed missense c.1186 p.R396W 0.957 NULL HMMSmart_SM00707,HMMPfam_RPEL - no_errors ERN1 2081 genome.wustl.edu 36 17 59476501 59476501 + Missense_Mutation SNP G G T novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 17 59476501 59476501 G T SNP ERN1 NM_001433 human genbank 54_36p -1 reviewed missense c.2603 p.A868D 0.912 HMMPfam_Ribonuc_2-5A superfamily_Quinoprotein alcohol dehydrogenase-like,HMMSmart_SM00564,HMMPfam_PQQ,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST,HMMPfam_Ribonuc_2-5A,HMMSmart_SM00580 - no_errors KHDRBS2 202559 genome.wustl.edu 36 6 62746032 62746032 + Missense_Mutation SNP C C G novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 6 62746032 62746032 C G SNP KHDRBS2 NM_152688 human genbank 54_36p -1 validated missense c.381 p.L127F 1.000 HMMSmart_KH,superfamily_SSF54791 HMMSmart_KH,superfamily_SSF54791,HMMPfam_KH_1 - no_errors ZNF551 90233 genome.wustl.edu 36 19 62889711 62889711 + Missense_Mutation SNP T T C novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 19 62889711 62889711 T C SNP ZNF551 NM_138347 human genbank 54_36p +1 validated missense c.208 p.S70P 0.071 HMMSmart_SM00349 superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors EDC4 23644 genome.wustl.edu 36 16 66473479 66473479 + Missense_Mutation SNP C C A novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 16 66473479 66473479 C A SNP EDC4 NM_014329 human genbank 54_36p +1 validated missense c.3126 p.S1042R 0.590 NULL superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40 - no_errors HEXA 3073 genome.wustl.edu 36 15 70428576 70428576 + Missense_Mutation SNP T C C novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 15 70428576 70428576 T C SNP HEXA NM_000520 human genbank 54_36p -1 reviewed missense c.884 p.N295S 0.981 HMMPfam_Glyco_hydro_20,superfamily_(Trans)glycosidases superfamily_beta-N-acetylhexosaminidase-like domain,HMMPfam_Glyco_hydro_20b,HMMPfam_Glyco_hydro_20,superfamily_(Trans)glycosidases - no_errors CARD14 79092 genome.wustl.edu 36 17 75783969 75783969 + Missense_Mutation SNP C T T rs61751630 unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 17 75783969 75783969 C T SNP CARD14 NM_024110 human genbank 54_36p +1 reviewed missense c.1517 p.P506L 0.006 NULL superfamily_DEATH domain,HMMPfam_CARD,superfamily_PDZ domain-like,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors ZFHX4 79776 genome.wustl.edu 36 8 77780592 77780592 + Missense_Mutation SNP G G T novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 8 77780592 77780592 G T SNP ZFHX4 NM_024721 human genbank 54_36p +1 validated missense c.1714 p.A572S 0.856 NULL HMMSmart_SM00355,PatternScan_SOMATOTROPIN_2,superfamily_C2H2 and C2HC zinc fingers,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2,HMMSmart_SM00451,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1 - no_errors CSNK1D 1453 genome.wustl.edu 36 17 77806636 77806636 + Missense_Mutation SNP C C A novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 17 77806636 77806636 C A SNP CSNK1D NM_001893 human genbank 54_36p -1 reviewed missense c.294 p.R98S 0.988 superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,HMMSmart_SM00219,HMMSmart_SM00220 superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors POU4F1 5457 genome.wustl.edu 36 13 78073779 78073779 + Missense_Mutation SNP C G G novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 13 78073779 78073779 C G SNP POU4F1 NM_006237 human genbank 54_36p -1 validated missense c.1032 p.M344I 1.000 superfamily_Homeodomain-like HMMPfam_Pou,HMMSmart_SM00352,superfamily_lambda repressor-like DNA-binding domains,PatternScan_POU_1,PatternScan_POU_2,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1 - no_errors CMYA5 202333 genome.wustl.edu 36 5 79066188 79066188 + Silent SNP G G A novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 5 79066188 79066188 G A SNP CMYA5 NM_153610 human genbank 54_36p +1 validated silent c.5844 p.P1948 0.000 NULL superfamily_FN_III-like,HMMPfam_fn3,HMMSmart_FN3,HMMPfam_SPRY - no_errors LOC728979 728979 genome.wustl.edu 36 5 86215942 86215942 + RNA SNP G G A novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 5 86215942 86215942 G A SNP LOC728979 XR_015799 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene RGPD2 729857 genome.wustl.edu 36 2 87852941 87852941 + Missense_Mutation SNP C C T novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 2 87852941 87852941 C T SNP RGPD2 NM_001078170 human genbank 54_36p -1 provisional missense c.2869 p.V957M 1.000 HMMPfam_GRIP,HMMSmart_Grip superfamily_SSF50729,HMMSmart_RanBD,HMMPfam_Ran_BP1,HMMPfam_GRIP,HMMSmart_Grip - no_errors ZNF804B 219578 genome.wustl.edu 36 7 88801838 88801838 + Missense_Mutation SNP C C T novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 7 88801838 88801838 C T SNP ZNF804B NM_181646 human genbank 54_36p +1 provisional missense c.1606 p.P536S 1.000 NULL HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors LOC100128771 0 genome.wustl.edu 36 9 97948665 97948665 + RNA SNP C C T novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 9 97948665 97948665 C T SNP LOC100128771 XR_037860 human genbank 54_36p +1 model rna NULL NULL 0.009 - - - pseudogene TMEM130 222865 genome.wustl.edu 36 7 98298722 98298722 + Nonsense_Mutation SNP C C T novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 7 98298722 98298722 C T SNP TMEM130 NM_152913 human genbank 54_36p -1 validated nonsense c.323 p.W108* 1.000 NULL superfamily_PKD domain - no_errors MITD1 129531 genome.wustl.edu 36 2 99163864 99163864 + Missense_Mutation SNP C C T novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 2 99163864 99163864 C T SNP MITD1 NM_138798 human genbank 54_36p -1 provisional missense c.13 p.G5R 0.000 NULL HMMSmart_MIT,HMMPfam_MIT - no_errors GNPTAB 79158 genome.wustl.edu 36 12 100714653 100714653 + Nonsense_Mutation SNP G G A novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 12 100714653 100714653 G A SNP GNPTAB NM_024312 human genbank 54_36p -1 validated nonsense c.136 p.R46* 1.000 NULL HMMSmart_SM00004,HMMPfam_Notch,superfamily_Notch domain,HMMPfam_DMAP_binding,PatternScan_EF_HAND_1 - no_errors TMEM182 130827 genome.wustl.edu 36 2 102747314 102747314 + Silent SNP A A C novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 2 102747314 102747314 A C SNP TMEM182 NM_144632 human genbank 54_36p +1 validated silent c.327 p.A109 0.783 NULL NULL - no_errors PDZD7 79955 genome.wustl.edu 36 10 102767941 102767941 + Missense_Mutation SNP C C A novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 10 102767941 102767941 C A SNP PDZD7 NM_024895 human genbank 54_36p -1 provisional missense c.1427 p.R476L 0.963 NULL superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228 - no_errors SH3PXD2A 9644 genome.wustl.edu 36 10 105352417 105352417 + Missense_Mutation SNP C C T novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 10 105352417 105352417 C T SNP SH3PXD2A NM_014631 human genbank 54_36p -1 validated missense c.2464 p.A822T 0.155 superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_1 HMMPfam_PX,HMMSmart_SM00312,superfamily_PX domain,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326 - no_errors COL17A1 1308 genome.wustl.edu 36 10 105801951 105801951 + Missense_Mutation SNP G G T novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 10 105801951 105801951 G T SNP COL17A1 NM_000494 human genbank 54_36p -1 reviewed missense c.1954 p.P652T 0.820 NULL HMMPfam_Collagen - no_errors COL4A5 1287 genome.wustl.edu 36 X 107810567 107810567 + Silent SNP T T G novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe X 107810567 107810567 T G SNP COL4A5 NM_033380 human genbank 54_36p +1 reviewed silent c.3945 p.G1315 0.968 HMMPfam_Collagen HMMPfam_Collagen,superfamily_C-type_lectin_fold,HMMPfam_C4,HMMSmart_C4 - no_errors FAM70B 348013 genome.wustl.edu 36 13 113606057 113606057 + Missense_Mutation SNP G A A novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 13 113606057 113606057 G A SNP FAM70B NM_182614 human genbank 54_36p -1 provisional missense c.698 p.P233L 0.868 NULL NULL - no_errors MED13L 23389 genome.wustl.edu 36 12 115159725 115159725 + Missense_Mutation SNP T T C novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 12 115159725 115159725 T C SNP MED13L NM_015335 human genbank 54_36p -1 validated missense c.241 p.K81E 1.000 NULL HMMPfam_TRAP_240kDa - no_errors KSR2 283455 genome.wustl.edu 36 12 116480712 116480712 + Missense_Mutation SNP G G C novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 12 116480712 116480712 G C SNP KSR2 NM_173598 human genbank 54_36p -1 validated missense c.1012 p.L338V 1.000 NULL superfamily_Cysteine-rich domain,HMMSmart_SM00109,HMMPfam_C1_1,PatternScan_ZF_DAG_PE_1,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST - no_errors KSR2 283455 genome.wustl.edu 36 12 116683321 116683321 + Silent SNP C T T novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 12 116683321 116683321 C T SNP KSR2 NM_173598 human genbank 54_36p -1 validated silent c.501 p.P167 0.488 NULL HMMSmart_SM00219,HMMPfam_C1_1,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,superfamily_Cysteine-rich domain - no_errors TMEM177 80775 genome.wustl.edu 36 2 120155410 120155410 + Silent SNP C C T novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 2 120155410 120155410 C T SNP TMEM177 NM_001105198 human genbank 54_36p +1 validated silent c.511 p.L171 0.184 NULL NULL - no_errors SORL1 6653 genome.wustl.edu 36 11 120898535 120898535 + Missense_Mutation SNP C C A novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 11 120898535 120898535 C A SNP SORL1 NM_003105 human genbank 54_36p +1 reviewed missense c.1435 p.Q479K 1.000 superfamily_Oligoxyloglucan reducing end-specific cellobiohydrolase,HMMSmart_SM00602 superfamily_Oligoxyloglucan reducing end-specific cellobiohydrolase,HMMSmart_SM00602,superfamily_YWTD domain,HMMSmart_SM00135,HMMPfam_Ldl_recept_b,PatternScan_EGF_2,superfamily_LDL receptor-like module,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1,PatternScan_COPPER_BLUE,superfamily_Fibronectin type III,HMMPfam_fn3,HMMSmart_SM00060 - no_errors BRWD2 55717 genome.wustl.edu 36 10 122653561 122653561 + Missense_Mutation SNP G G C novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 10 122653561 122653561 G C SNP BRWD2 NM_018117 human genbank 54_36p +1 reviewed missense c.2944 p.E982Q 1.000 NULL superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,PatternScan_WD_REPEATS_1 - no_errors OR1L4 254973 genome.wustl.edu 36 9 124526435 124526435 + Missense_Mutation SNP C C A novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 9 124526435 124526435 C A SNP OR1L4 NM_001005235 human genbank 54_36p +1 provisional missense c.346 p.L116M 0.171 superfamily_SSF81321,HMMPfam_7tm_1 PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1 - no_errors MYLK 4638 genome.wustl.edu 36 3 124940438 124940438 + Missense_Mutation SNP A A C novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 3 124940438 124940438 A C SNP MYLK NM_053025 human genbank 54_36p -1 reviewed missense c.584 p.L195R 1.000 superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408 superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors GAPVD1 26130 genome.wustl.edu 36 9 127123533 127123533 + Missense_Mutation SNP G G A novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 9 127123533 127123533 G A SNP GAPVD1 NM_015635 human genbank 54_36p +1 validated missense c.1603 p.V535I 1.000 NULL superfamily_Rho_GAP,HMMPfam_RasGAP,superfamily_SSF109993,HMMSmart_VPS9,HMMPfam_VPS9 - no_errors ALDH1L1 10840 genome.wustl.edu 36 3 127355066 127355066 + Missense_Mutation SNP C C T novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 3 127355066 127355066 C T SNP ALDH1L1 NM_012190 human genbank 54_36p -1 reviewed missense c.769 p.E257K 0.003 superfamily_FMT_C_like,HMMPfam_Formyl_trans_C PatternScan_PHOSPHOPANTETHEINE,HMMPfam_Formyl_trans_N,superfamily_formyl_transf,PatternScan_GART,superfamily_FMT_C_like,HMMPfam_Formyl_trans_C,superfamily_ACP_like,superfamily_Aldehyde_DH/Histidinol_DH,HMMPfam_Aldedh,PatternScan_ALDEHYDE_DEHYDR_GLU,PatternScan_ALDEHYDE_DEHYDR_CYS - no_errors ADAMTS19 171019 genome.wustl.edu 36 5 129067859 129067859 + Missense_Mutation SNP G G A novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 5 129067859 129067859 G A SNP ADAMTS19 NM_133638 human genbank 54_36p +1 reviewed missense c.3170 p.R1057H 0.305 superfamily_TSP-1 type 1 repeat,HMMPfam_TSP_1,HMMSmart_SM00209 "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,HMMSmart_SM00608,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_PLAC" - no_errors POTEE 0 genome.wustl.edu 36 2 131737846 131737846 + Missense_Mutation SNP A A G novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 2 131737846 131737846 A G SNP POTEE NM_001083538 human genbank 54_36p +1 validated missense c.2348 p.E783G 1.000 superfamily_Actin-like ATPase domain,HMMPfam_Actin,HMMSmart_SM00268 superfamily_Ankyrin repeat,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Actin-like ATPase domain,HMMPfam_Actin,HMMSmart_SM00268,PatternScan_ACTINS_ACT_LIKE,PatternScan_ACTINS_2 - no_errors HNRNPA0 10949 genome.wustl.edu 36 5 137116947 137116947 + Silent SNP G G A novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 5 137116947 137116947 G A SNP HNRNPA0 NM_006805 human genbank 54_36p -1 reviewed silent c.708 p.G236 0.987 NULL superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1 - no_errors PIK3CB 5291 genome.wustl.edu 36 3 139866616 139866616 + Missense_Mutation SNP G G T novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 3 139866616 139866616 G T SNP PIK3CB NM_006219 human genbank 54_36p -1 provisional missense c.2624 p.A875D 1.000 superfamily_Kinase_like,HMMPfam_PI3_PI4_kinase,HMMSmart_PI3Kc HMMPfam_PI3K_p85B,HMMSmart_PI3K_p85B,superfamily_SSF54236,HMMPfam_PI3K_rbd,HMMSmart_PI3K_rbd,HMMSmart_PI3K_C2,superfamily_C2_CaLB,HMMPfam_PI3K_C2,superfamily_ARM-type_fold,HMMSmart_PI3Ka,HMMPfam_PI3Ka,superfamily_Kinase_like,HMMPfam_PI3_PI4_kinase,HMMSmart_PI3Kc,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2 - no_errors PRKAB2 5565 genome.wustl.edu 36 1 145100736 145100736 + Missense_Mutation SNP C C T novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 1 145100736 145100736 C T SNP PRKAB2 NM_005399 human genbank 54_36p -1 reviewed missense c.579 p.M193I 1.000 HMMPfam_AMPKBI HMMPfam_AMPKBI - no_errors GIMAP1 170575 genome.wustl.edu 36 7 150048367 150048367 + Silent SNP G G A novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 7 150048367 150048367 G A SNP GIMAP1 NM_130759 human genbank 54_36p +1 reviewed silent c.342 p.A114 0.012 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_AIG1 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_AIG1 - no_errors CPA3 1359 genome.wustl.edu 36 3 150084160 150084160 + Silent SNP G G C novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 3 150084160 150084160 G C SNP CPA3 NM_001870 human genbank 54_36p +1 reviewed silent c.849 p.T283 0.992 superfamily_Zn-dependent exopeptidases,HMMSmart_SM00631,HMMPfam_Peptidase_M14 superfamily_Protease propeptides/inhibitors,HMMPfam_Propep_M14,superfamily_Zn-dependent exopeptidases,HMMSmart_SM00631,HMMPfam_Peptidase_M14,PatternScan_CARBOXYPEPT_ZN_2 - no_errors RPTN 126638 genome.wustl.edu 36 1 150394808 150394808 + Missense_Mutation SNP C C A novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 1 150394808 150394808 C A SNP RPTN ENST00000316073 human ensembl 54_36p -1 known missense c.1391 p.G464V 0.075 NULL superfamily_EF-hand,HMMPfam_S_100,HMMPfam_efhand,PatternScan_S100_CABP,PatternScan_EF_HAND_1 - no_errors AGAP3 116988 genome.wustl.edu 36 7 150471573 150471573 + Missense_Mutation SNP C C A novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 7 150471573 150471573 C A SNP AGAP3 NM_031946 human genbank 54_36p +1 validated missense c.2486 p.S829Y 1.000 superfamily_Ankyrin repeat,HMMPfam_Ank HMMSmart_SM00173,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175,HMMPfam_Miro,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_Pyk2-associated protein beta ARF-GAP domain,HMMPfam_ArfGap,HMMSmart_SM00105,superfamily_Ankyrin repeat,HMMPfam_Ank - no_errors RIF1 55183 genome.wustl.edu 36 2 151997864 151997864 + Missense_Mutation SNP A A G novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 2 151997864 151997864 A G SNP RIF1 NM_018151 human genbank 54_36p +1 validated missense c.953 p.K318R 1.000 superfamily_ARM repeat superfamily_ARM repeat,PatternScan_ABC_TRANSPORTER_1 - no_errors TRIM2 23321 genome.wustl.edu 36 4 154411080 154411080 + Missense_Mutation SNP G G C novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 4 154411080 154411080 G C SNP TRIM2 NM_015271 human genbank 54_36p +1 validated missense c.93 p.K31N 1.000 superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4 superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_BBOX,HMMSmart_BBC,HMMPfam_Filamin,HMMSmart_IG_FLMN,superfamily_Ig_E-set,superfamily_SSF101898,HMMPfam_NHL - no_errors FAM78B 149297 genome.wustl.edu 36 1 164306482 164306482 + Missense_Mutation SNP C C T novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 1 164306482 164306482 C T SNP FAM78B NM_001017961 human genbank 54_36p -1 predicted missense c.406 p.V136I 1.000 NULL NULL - no_errors SLC38A11 151258 genome.wustl.edu 36 2 165502120 165502120 + Silent SNP T T A novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 2 165502120 165502120 T A SNP SLC38A11 NM_173512 human genbank 54_36p -1 provisional silent c.369 p.S123 0.041 HMMPfam_Aa_trans HMMPfam_Aa_trans - no_errors C1orf114 57821 genome.wustl.edu 36 1 167654879 167654879 + Missense_Mutation SNP C C T novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 1 167654879 167654879 C T SNP C1orf114 NM_021179 human genbank 54_36p -1 predicted missense c.1211 p.S404N 1.000 NULL NULL - no_errors LOC401218 401218 genome.wustl.edu 36 5 172122688 172122688 + RNA SNP C C G novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 5 172122688 172122688 C G SNP LOC401218 XR_042344 human genbank 54_36p -1 model rna NULL NULL 0.646 - - - pseudogene FAM5B 57795 genome.wustl.edu 36 1 175516505 175516505 + Missense_Mutation SNP C C T novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 1 175516505 175516505 C T SNP FAM5B NM_021165 human genbank 54_36p +1 provisional missense c.1570 p.R524C 1.000 NULL HMMSmart_SM00457 - no_errors SEC16B 89866 genome.wustl.edu 36 1 176168485 176168485 + Missense_Mutation SNP G G A novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 1 176168485 176168485 G A SNP SEC16B NM_033127 human genbank 54_36p -1 validated missense c.2903 p.P968L 0.005 NULL PatternScan_PHOSPHOPANTETHEINE - no_errors NPHS2 7827 genome.wustl.edu 36 1 177792793 177792793 + Missense_Mutation SNP C C G novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 1 177792793 177792793 C G SNP NPHS2 NM_014625 human genbank 54_36p -1 reviewed missense c.730 p.D244H 0.997 HMMSmart_SM00244,HMMPfam_Band_7,PatternScan_BAND_7 HMMSmart_SM00244,HMMPfam_Band_7,PatternScan_BAND_7 - no_errors TTN 7273 genome.wustl.edu 36 2 179148382 179148382 + Missense_Mutation SNP C C T novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 2 179148382 179148382 C T SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.58666 p.G19556S 1.000 superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like,superfamily_WD40 repeat-like,superfamily_Positive stranded ssRNA viruses,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3 superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like,superfamily_WD40 repeat-like,superfamily_Positive stranded ssRNA viruses,HMMPfam_Titin_Z,HMMSmart_SM00406,PatternScan_IG_MHC,HMMPfam_PPAK,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,PatternScan_FGGY_KINASES_1,PatternScan_PEROXIDASE_1,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_TYR - no_errors TTN 7273 genome.wustl.edu 36 2 179194488 179194488 + Missense_Mutation SNP C C T novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 2 179194488 179194488 C T SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.33254 p.R11085Q 1.000 HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,HMMPfam_ig,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_IG_MHC,HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_PPAK,PatternScan_PROTEIN_KINASE_TYR,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Protein kinase-like (PK-like),superfamily_WD40 repeat-like,HMMPfam_I-set,HMMPfam_ig,HMMPfam_Titin_Z,HMMPfam_Pkinase,PatternScan_FGGY_KINASES_1,PatternScan_PEROXIDASE_1,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses - no_errors LAMC1 3915 genome.wustl.edu 36 1 181346337 181346337 + Missense_Mutation SNP T T A novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 1 181346337 181346337 T A SNP LAMC1 NM_002293 human genbank 54_36p +1 reviewed missense c.946 p.C316S 1.000 HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_SSF57196,PatternScan_EGF_1,PatternScan_EGF_LAM_1 HMMSmart_LamNT,HMMPfam_Laminin_N,HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_SSF57196,PatternScan_EGF_1,PatternScan_EGF_LAM_1,superfamily_Grow_fac_recept,HMMSmart_LamB,HMMPfam_Laminin_B,PatternScan_EGF_2 - no_errors ZNF804A 91752 genome.wustl.edu 36 2 185509557 185509557 + Missense_Mutation SNP G G A novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 2 185509557 185509557 G A SNP ZNF804A NM_194250 human genbank 54_36p +1 provisional missense c.1189 p.E397K 0.283 NULL HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors F11 2160 genome.wustl.edu 36 4 187438530 187438530 + Missense_Mutation SNP G A A novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 4 187438530 187438530 G A SNP F11 NM_000128 human genbank 54_36p +1 reviewed missense c.1025 p.G342E 0.759 HMMSmart_SM00223,PatternScan_APPLE,HMMPfam_PAN_1 HMMSmart_SM00223,PatternScan_APPLE,HMMPfam_PAN_1,superfamily_Hairpin loop containing domain-like,superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER - no_errors LPP 4026 genome.wustl.edu 36 3 190073210 190073210 + Missense_Mutation SNP G G C novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 3 190073210 190073210 G C SNP LPP NM_005578 human genbank 54_36p +1 validated missense c.1675 p.D559H 1.000 superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00132,HMMPfam_LIM superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM - no_errors IPO9 55705 genome.wustl.edu 36 1 200084201 200084201 + Missense_Mutation SNP G G A novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 1 200084201 200084201 G A SNP IPO9 NM_018085 human genbank 54_36p +1 validated missense c.370 p.V124M 1.000 superfamily_ARM repeat superfamily_ARM repeat,HMMPfam_IBN_N - no_errors CR1 1378 genome.wustl.edu 36 1 205851754 205851754 + Silent SNP C C A novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 1 205851754 205851754 C A SNP CR1 NM_000651 human genbank 54_36p +1 reviewed silent c.6405 p.L2135 0.001 superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032 superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032 - no_errors WDR69 164781 genome.wustl.edu 36 2 228477942 228477942 + Silent SNP C C A novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 2 228477942 228477942 C A SNP WDR69 NM_178821 human genbank 54_36p +1 provisional silent c.702 p.I234 1.000 superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1 superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1 - no_errors KIAA1383 54627 genome.wustl.edu 36 1 231009398 231009398 + Missense_Mutation SNP G G C novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 1 231009398 231009398 G C SNP KIAA1383 NM_019090 human genbank 54_36p +1 validated missense c.2006 p.R669T 0.167 NULL NULL - no_errors DGKD 8527 genome.wustl.edu 36 2 234033146 234033146 + Missense_Mutation SNP G G T novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 2 234033146 234033146 G T SNP DGKD NM_152879 human genbank 54_36p +1 reviewed missense c.2699 p.R900L 1.000 HMMPfam_DAGK_acc,HMMSmart_SM00045 superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,HMMPfam_DAGK_cat,HMMSmart_SM00046,HMMPfam_DAGK_acc,HMMSmart_SM00045,superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_2 - no_errors UGT1A4 54657 genome.wustl.edu 36 2 234345819 234345819 + Missense_Mutation SNP G G T novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 2 234345819 234345819 G T SNP UGT1A4 NM_007120 human genbank 54_36p +1 reviewed missense c.1480 p.G494C 0.986 HMMPfam_UDPGT superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_UDPGT,PatternScan_UDPGT - no_errors FMN2 56776 genome.wustl.edu 36 1 238353262 238353262 + Silent SNP G G A novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 1 238353262 238353262 G A SNP FMN2 NM_020066 human genbank 54_36p +1 validated silent c.2205 p.S735 0.478 NULL PatternScan_LECTIN_LEGUME_BETA,HMMSmart_SM00498,HMMPfam_Drf_FH1,superfamily_Formin homology 2 domain (FH2 domain),HMMPfam_FH2 - no_errors PPPDE1 51029 genome.wustl.edu 36 1 242919230 242919230 + Missense_Mutation SNP G G A novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 1 242919230 242919230 G A SNP PPPDE1 NM_016076 human genbank 54_36p +1 validated missense c.172 p.G58R 1.000 HMMPfam_DUF862 HMMPfam_DUF862 - no_errors TP53 7157 genome.wustl.edu 36 17 7519012 7519013 + Frame_Shift_Ins INS - - T novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 17 7519012 7519013 - T INS TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_ins c.562_561 p.L187fs 0.381:0.265 HMMPfam_P53,superfamily_p53-like transcription factors HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain - no_errors MRTO4 51154 genome.wustl.edu 36 1 19456591 19456592 + Frame_Shift_Del DEL GG GG - novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 GG GG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 1 19456591 19456592 GG - DEL MRTO4 NM_016183 human genbank 54_36p +1 reviewed frame_shift_del c.330_331 p.E111fs 0.990:1.000 HMMPfam_Ribosomal_L10 HMMPfam_Ribosomal_L10 (deletion:cds_exon[19456535,19456602]) no_errors NCOA1 8648 genome.wustl.edu 36 2 24839131 24839132 + Frame_Shift_Del DEL AG AG - novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 AG AG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 2 24839131 24839132 AG - DEL NCOA1 NM_003743 human genbank 54_36p +1 reviewed frame_shift_del c.4137_4138 p.E1380fs 1.000:1.000 NULL superfamily_HLH helix-loop-helix DNA-binding domain,HMMPfam_HLH,HMMSmart_SM00353,HMMPfam_PAS,HMMSmart_SM00091,superfamily_PYP-like sensor domain (PAS domain),HMMPfam_SRC-1,superfamily_Nuclear receptor coactivator interlocking domain,HMMPfam_Nuc_rec_co-act,HMMPfam_DUF1518 (deletion:cds_exon[24839060,24839149]) no_errors RB1 5925 genome.wustl.edu 36 13 47849158 47849158 + Frame_Shift_Del DEL A A - novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 13 47849158 47849158 A - DEL RB1 NM_000321 human genbank 54_36p +1 reviewed frame_shift_del c.1319 p.I441fs 0.984 HMMPfam_RB_A,superfamily_Cyclin-like HMMPfam_RB_A,superfamily_Cyclin-like,HMMPfam_RB_B,HMMSmart_SM00385,HMMPfam_Rb_C (deletion:cds_exon[47849055,47849171]) no_errors CCDC104 112942 genome.wustl.edu 36 2 55624647 55624647 + Frame_Shift_Del DEL C C - novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 2 55624647 55624647 C - DEL CCDC104 NM_080667 human genbank 54_36p +1 validated frame_shift_del c.710 p.S238fs 0.948 NULL NULL (deletion:cds_exon[55624578,55624714]) no_errors TNRC18 27320 genome.wustl.edu 36 7 62670733 62670734 + In_Frame_Ins INS - - GCT novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 7 62670733 62670734 - GCT INS TNRC18 XM_376618 human genbank 54_36p -1 model in_frame_ins c.1486_1485 p.495in_frame_insS 1.000:1.000 NULL NULL - pseudogene HNF1A 6927 genome.wustl.edu 36 12 119919013 119919014 + Frame_Shift_Ins INS - - TCATTCAT novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 12 119919013 119919014 - TCATTCAT INS HNF1A ENST00000344370 human ensembl 54_36p +1 known frame_shift_ins c.1394_1395 p.F469fs 0.219:0.228 HMMPfam_HNF-1B_C superfamily_Dimerization cofactor of HNF-1 alpha,HMMPfam_HNF-1_N,superfamily_lambda repressor-like DNA-binding domains,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1,HMMPfam_HNF-1B_C,HMMPfam_HNF-1A_C - no_errors FGFR4 2264 genome.wustl.edu 36 5 176449742 176449743 + Frame_Shift_Ins INS - - GTGT novel unknown TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d45bb919-f2fd-4ac0-ae04-fac8e2105a31 05712782-d79d-460a-9809-dded595d46fe 5 176449742 176449743 - GTGT INS FGFR4 ENST00000377207 human ensembl 54_36p +1 known frame_shift_ins c.67_68 p.V27fs 0.378:0.377 NULL PatternScan_EGF_2,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_I-set,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR - no_start_codon