#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
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	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ABCC8	6833	genome.wustl.edu	37	11	17496468	17496468	+	Silent	SNP	C	C	A			TCGA-C8-A1HO-01A-11D-A13L-09	TCGA-C8-A1HO-10A-01D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6fb921c-78fe-4852-b2a5-edd5a02ae923	dd0c6efe-1e1d-4031-aaaa-6823475036af	g.chr11:17496468C>A	ENST00000389817.3	-	2	323	c.255G>T	c.(253-255)ctG>ctT	p.L85L	ABCC8_ENST00000302539.4_Silent_p.L85L			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	85					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	TCTCACACACCAGGACGAAGA	0.547																																						dbGAP											0													214.0	150.0	172.0					11																	17496468		2200	4293	6493	-	-	-	SO:0001819	synonymous_variant	0			L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.255G>T	11.37:g.17496468C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMX8|E3UYX6|O75948|Q16583	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.L85	ENST00000389817.3	37	c.255	CCDS31437.1	11																																																																																			ABCC8	-	NULL	ENSG00000006071		0.547	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCC8	HGNC	protein_coding	OTTHUMT00000389093.1	135	0.00	0	C	NM_000352		17496468	17496468	-1	no_errors	ENST00000302539	ensembl	human	known	69_37n	silent	95	46.93	84	SNP	1.000	A
ANKRD44	91526	genome.wustl.edu	37	2	197986120	197986120	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A1HO-01A-11D-A13L-09	TCGA-C8-A1HO-10A-01D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6fb921c-78fe-4852-b2a5-edd5a02ae923	dd0c6efe-1e1d-4031-aaaa-6823475036af	g.chr2:197986120G>A	ENST00000328737.2	-	8	843	c.767C>T	c.(766-768)gCc>gTc	p.A256V	ANKRD44_ENST00000337207.5_Missense_Mutation_p.A256V|ANKRD44_ENST00000539527.1_Missense_Mutation_p.A209V|ANKRD44_ENST00000450567.1_Missense_Mutation_p.A256V|ANKRD44_ENST00000409919.1_Missense_Mutation_p.A281V|ANKRD44_ENST00000282272.8_Missense_Mutation_p.A273V|ANKRD44_ENST00000409153.1_Missense_Mutation_p.A281V			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	281										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ATGAGTGGAGGCAGCAGCAAA	0.443																																						dbGAP											0													204.0	160.0	175.0					2																	197986120		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.767C>T	2.37:g.197986120G>A	ENSP00000331516:p.Ala256Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.A256V	ENST00000328737.2	37	c.767		2	.	.	.	.	.	.	.	.	.	.	G	18.39	3.613137	0.66672	.	.	ENSG00000065413	ENST00000424317;ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207;ENST00000409153;ENST00000539527;ENST00000409919	T;T;T;T;T;T;T;T	0.69306	-0.14;-0.14;-0.39;-0.39;-0.39;-0.14;-0.39;-0.39	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.71728	0.3374	N	0.25789	0.76	0.80722	D	1	B;D	0.76494	0.012;0.999	B;D	0.80764	0.06;0.994	T	0.64993	-0.6276	10	0.17832	T	0.49	.	19.1568	0.93514	0.0:0.0:1.0:0.0	.	209;281	F5H682;Q8N8A2-3	.;.	V	78;273;256;256;256;281;209;281	ENSP00000403415:A78V;ENSP00000282272:A273V;ENSP00000331516:A256V;ENSP00000402420:A256V;ENSP00000338794:A256V;ENSP00000387141:A281V;ENSP00000437825:A209V;ENSP00000387233:A281V	ENSP00000282272:A273V	A	-	2	0	ANKRD44	197694365	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.482000	0.73613	2.832000	0.97577	0.655000	0.94253	GCC	ANKRD44	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000065413		0.443	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	ANKRD44	HGNC	protein_coding	OTTHUMT00000335113.1	99	0.00	0	G	NM_153697		197986120	197986120	-1	no_errors	ENST00000328737	ensembl	human	known	69_37n	missense	94	39.74	62	SNP	1.000	A
BBS10	79738	genome.wustl.edu	37	12	76741035	76741035	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A1HO-01A-11D-A13L-09	TCGA-C8-A1HO-10A-01D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6fb921c-78fe-4852-b2a5-edd5a02ae923	dd0c6efe-1e1d-4031-aaaa-6823475036af	g.chr12:76741035C>T	ENST00000393262.3	-	2	813	c.730G>A	c.(730-732)Gat>Aat	p.D244N		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	244					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|regulation of protein complex assembly (GO:0043254)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell projection (GO:0042995)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						ACAGAAAAATCTTTCTGAAGC	0.423									Bardet-Biedl syndrome																													dbGAP											0													80.0	71.0	74.0					12																	76741035		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	BC026355	CCDS9014.2	12q21.2	2014-06-17	2006-04-28	2006-04-28	ENSG00000179941	ENSG00000179941		"""Heat Shock Proteins / Chaperonins"""	26291	protein-coding gene	gene with protein product		610148	"""chromosome 12 open reading frame 58"""	C12orf58		16582908	Standard	NM_024685		Approved	FLJ23560	uc001syd.1	Q8TAM1	OTTHUMG00000147352	ENST00000393262.3:c.730G>A	12.37:g.76741035C>T	ENSP00000376946:p.Asp244Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96CW2|Q9H5D2	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1	p.D244N	ENST00000393262.3	37	c.730	CCDS9014.2	12	.	.	.	.	.	.	.	.	.	.	C	19.37	3.814900	0.70912	.	.	ENSG00000179941	ENST00000393262	T	0.78816	-1.21	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.86451	0.5936	M	0.72118	2.19	0.49051	D	0.999743	D	0.89917	1.0	D	0.77557	0.99	D	0.87192	0.2235	10	0.87932	D	0	-16.4622	13.8018	0.63204	0.0:0.8468:0.1532:0.0	.	244	Q8TAM1	BBS10_HUMAN	N	244	ENSP00000376946:D244N	ENSP00000376946:D244N	D	-	1	0	BBS10	75265166	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.009000	0.57110	2.827000	0.97445	0.650000	0.86243	GAT	BBS10	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1	ENSG00000179941		0.423	BBS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS10	HGNC	protein_coding	OTTHUMT00000303983.2	57	0.00	0	C	NM_024685		76741035	76741035	-1	no_errors	ENST00000393262	ensembl	human	known	69_37n	missense	38	39.68	25	SNP	1.000	T
C1orf35	79169	genome.wustl.edu	37	1	228289836	228289836	+	Frame_Shift_Del	DEL	T	T	-			TCGA-C8-A1HO-01A-11D-A13L-09	TCGA-C8-A1HO-10A-01D-A188-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6fb921c-78fe-4852-b2a5-edd5a02ae923	dd0c6efe-1e1d-4031-aaaa-6823475036af	g.chr1:228289836delT	ENST00000272139.4	-	6	712	c.478delA	c.(478-480)accfs	p.T160fs	C1orf35_ENST00000472617.1_5'UTR	NM_024319.2	NP_077295.1	Q9BU76	MMTA2_HUMAN	chromosome 1 open reading frame 35	160							poly(A) RNA binding (GO:0044822)			large_intestine(1)|lung(1)|skin(1)	3		Prostate(94;0.0488)				GCTGCCGAGGTCCCGGGCCCG	0.746																																						dbGAP											0													4.0	9.0	8.0					1																	228289836		1897	3936	5833	-	-	-	SO:0001589	frameshift_variant	0			AY137773	CCDS1566.1	1q42.13	2012-06-25			ENSG00000143793	ENSG00000143793			19032	protein-coding gene	gene with protein product	"""multiple myeloma tumor-associated protein 2"""					12545221	Standard	NM_024319		Approved	MGC4174, MMTAG2	uc001hrx.3	Q9BU76	OTTHUMG00000037793	ENST00000272139.4:c.478delA	1.37:g.228289836delT	ENSP00000272139:p.Thr160fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P5Y0|Q6ZTZ6|Q6ZWA6|Q8IZH3	Frame_Shift_Del	DEL	pfam_Kinase_phosphorylation_domain	p.T160fs	ENST00000272139.4	37	c.478	CCDS1566.1	1																																																																																			C1orf35	-	NULL	ENSG00000143793		0.746	C1orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf35	HGNC	protein_coding	OTTHUMT00000092245.1	14	0.00	0	T	NM_024319		228289836	228289836	-1	no_errors	ENST00000272139	ensembl	human	known	69_37n	frame_shift_del	2	40.00	2	DEL	0.000	-
C2orf71	388939	genome.wustl.edu	37	2	29293999	29293999	+	Silent	SNP	G	G	T			TCGA-C8-A1HO-01A-11D-A13L-09	TCGA-C8-A1HO-10A-01D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6fb921c-78fe-4852-b2a5-edd5a02ae923	dd0c6efe-1e1d-4031-aaaa-6823475036af	g.chr2:29293999G>T	ENST00000331664.5	-	1	3128	c.3129C>A	c.(3127-3129)acC>acA	p.T1043T		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	1043	Pro-rich.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GCCGCTTTGTGGTGGGTGGGC	0.677																																						dbGAP											0													37.0	44.0	41.0					2																	29293999		1950	4110	6060	-	-	-	SO:0001819	synonymous_variant	0				CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.3129C>A	2.37:g.29293999G>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.T1043	ENST00000331664.5	37	c.3129	CCDS42669.1	2																																																																																			C2orf71	-	NULL	ENSG00000179270		0.677	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	C2orf71	HGNC	protein_coding	OTTHUMT00000324924.3	22	0.00	0	G	NM_001029883		29293999	29293999	-1	no_errors	ENST00000331664	ensembl	human	novel	69_37n	silent	30	25.00	10	SNP	0.000	T
CDH1	999	genome.wustl.edu	37	16	68856122	68856122	+	Missense_Mutation	SNP	G	G	A	rs587781696		TCGA-C8-A1HO-01A-11D-A13L-09	TCGA-C8-A1HO-10A-01D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6fb921c-78fe-4852-b2a5-edd5a02ae923	dd0c6efe-1e1d-4031-aaaa-6823475036af	g.chr16:68856122G>A	ENST00000261769.5	+	12	2121	c.1930G>A	c.(1930-1932)Gac>Aac	p.D644N	RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000422392.2_Missense_Mutation_p.D583N|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	644	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		TCAGTACAACGACCCAAGTGG	0.488			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													dbGAP	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	0													77.0	64.0	69.0					16																	68856122		2198	4300	6498	-	-	-	SO:0001583	missense	0	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.1930G>A	16.37:g.68856122G>A	ENSP00000261769:p.Asp644Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D644N	ENST00000261769.5	37	c.1930	CCDS10869.1	16	.	.	.	.	.	.	.	.	.	.	G	1.917	-0.449167	0.04572	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000422392	T;T	0.50001	0.76;0.76	5.68	4.72	0.59763	Cadherin (2);Cadherin-like (1);	0.583249	0.15433	N	0.262600	T	0.32615	0.0835	L	0.31578	0.945	0.09310	N	1	P;B	0.42584	0.784;0.011	B;B	0.41646	0.362;0.005	T	0.18587	-1.0332	10	0.02654	T	1	.	11.1669	0.48547	0.1407:0.0:0.8593:0.0	.	583;644	Q9UII8;P12830	.;CADH1_HUMAN	N	644;662;583	ENSP00000261769:D644N;ENSP00000414946:D583N	ENSP00000261769:D644N	D	+	1	0	CDH1	67413623	0.014000	0.17966	0.214000	0.23707	0.136000	0.21042	1.708000	0.37899	2.697000	0.92050	0.632000	0.83419	GAC	CDH1	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000039068		0.488	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	44	0.00	0	G	NM_004360		68856122	68856122	+1	no_errors	ENST00000261769	ensembl	human	known	69_37n	missense	33	46.77	29	SNP	0.001	A
DSC1	1823	genome.wustl.edu	37	18	28742499	28742499	+	Missense_Mutation	SNP	A	A	G			TCGA-C8-A1HO-01A-11D-A13L-09	TCGA-C8-A1HO-10A-01D-A188-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6fb921c-78fe-4852-b2a5-edd5a02ae923	dd0c6efe-1e1d-4031-aaaa-6823475036af	g.chr18:28742499A>G	ENST00000257198.5	-	1	320	c.59T>C	c.(58-60)cTc>cCc	p.L20P	DSC1_ENST00000257197.3_Missense_Mutation_p.L20P|RP11-408H20.2_ENST00000581836.1_RNA	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	20					homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			ACTCACCAGGAGAGAGAAAAG	0.522																																						dbGAP											0													85.0	85.0	85.0					18																	28742499		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"""Cadherins / Major cadherins"""	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.59T>C	18.37:g.28742499A>G	ENSP00000257198:p.Leu20Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9HB01	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_pro_dom,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Desmocollin,prints_Cadherin,prints_Desmo_cadherin	p.L20P	ENST00000257198.5	37	c.59	CCDS11894.1	18	.	.	.	.	.	.	.	.	.	.	A	18.09	3.546700	0.65198	.	.	ENSG00000134765	ENST00000257197;ENST00000257198	T;T	0.61980	0.06;0.09	5.05	5.05	0.67936	.	0.192767	0.26324	N	0.025038	T	0.76471	0.3992	M	0.71036	2.16	0.54753	D	0.999984	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	T	0.79057	-0.1959	10	0.87932	D	0	.	11.4565	0.50185	1.0:0.0:0.0:0.0	.	20;20	Q08554;Q9HB00	DSC1_HUMAN;.	P	20	ENSP00000257197:L20P;ENSP00000257198:L20P	ENSP00000257197:L20P	L	-	2	0	DSC1	26996497	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	4.243000	0.58721	2.013000	0.59113	0.459000	0.35465	CTC	DSC1	-	NULL	ENSG00000134765		0.522	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DSC1	HGNC	protein_coding	OTTHUMT00000254946.1	59	0.00	0	A	NM_004948, NM_024421		28742499	28742499	-1	no_errors	ENST00000257198	ensembl	human	known	69_37n	missense	38	43.48	30	SNP	0.999	G
EFEMP1	2202	genome.wustl.edu	37	2	56097974	56097974	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C8-A1HO-01A-11D-A13L-09	TCGA-C8-A1HO-10A-01D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6fb921c-78fe-4852-b2a5-edd5a02ae923	dd0c6efe-1e1d-4031-aaaa-6823475036af	g.chr2:56097974G>A	ENST00000394555.2	-	10	1636	c.1201C>T	c.(1201-1203)Cga>Tga	p.R401*	EFEMP1_ENST00000424836.2_Nonsense_Mutation_p.R263*|EFEMP1_ENST00000394554.1_Nonsense_Mutation_p.R401*|EFEMP1_ENST00000355426.3_Nonsense_Mutation_p.R401*	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	401	Mediates interaction with TIMP3.				epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|negative regulation of chondrocyte differentiation (GO:0032331)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|epidermal growth factor-activated receptor activity (GO:0005006)			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CTATCAGATCGGATGCTCATG	0.428																																					GBM(92;934 1319 7714 28760 40110)	dbGAP											0													102.0	99.0	100.0					2																	56097974		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U03877	CCDS1857.1	2p16	2013-01-08	2011-01-25		ENSG00000115380	ENSG00000115380		"""Fibulins"""	3218	protein-coding gene	gene with protein product	"""fibulin 3"""	601548	"""fibrillin-like"", ""EGF-containing fibulin-like extracellular matrix protein 1"""	DHRD, FBNL		8812496, 7799918	Standard	NM_001039348		Approved	S1-5, FBLN3, MTLV	uc002rzi.3	Q12805	OTTHUMG00000129343	ENST00000394555.2:c.1201C>T	2.37:g.56097974G>A	ENSP00000378058:p.Arg401*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3I4|B4DW75|D6W5D2|Q541U7	Nonsense_Mutation	SNP	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	p.R401*	ENST00000394555.2	37	c.1201	CCDS1857.1	2	.	.	.	.	.	.	.	.	.	.	G	37	6.432343	0.97564	.	.	ENSG00000115380	ENST00000394555;ENST00000394554;ENST00000405693;ENST00000424836;ENST00000355426	.	.	.	5.65	4.76	0.60689	.	0.000000	0.53938	D	0.000048	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	16.094	0.81109	0.0:0.0:0.865:0.135	.	.	.	.	X	401;401;257;263;401	.	ENSP00000347596:R401X	R	-	1	2	EFEMP1	55951478	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.712000	0.61888	1.484000	0.48361	0.655000	0.94253	CGA	EFEMP1	-	NULL	ENSG00000115380		0.428	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFEMP1	HGNC	protein_coding	OTTHUMT00000251491.2	126	0.00	0	G			56097974	56097974	-1	no_errors	ENST00000355426	ensembl	human	known	69_37n	nonsense	105	38.24	65	SNP	1.000	A
GOLGA8K	653125	genome.wustl.edu	37	15	32686900	32686900	+	Silent	SNP	C	C	T			TCGA-C8-A1HO-01A-11D-A13L-09	TCGA-C8-A1HO-10A-01D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6fb921c-78fe-4852-b2a5-edd5a02ae923	dd0c6efe-1e1d-4031-aaaa-6823475036af	g.chr15:32686900C>T	ENST00000512626.2	-	14	1242	c.1242G>A	c.(1240-1242)acG>acA	p.T414T	RN7SL185P_ENST00000492212.2_RNA|AC139426.1_ENST00000408517.1_RNA					golgin A8 family, member K																		TCAGCTGGGCCGTTAGCTGCT	0.632																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0				CCDS61577.1	15q13.3	2012-10-05			ENSG00000249931	ENSG00000249931			38652	protein-coding gene	gene with protein product							Standard	NM_001282493		Approved			D6RF30	OTTHUMG00000175395	ENST00000512626.2:c.1242G>A	15.37:g.32686900C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.T391	ENST00000512626.2	37	c.1173		15																																																																																			RP13-395E19.1	-	NULL	ENSG00000249931		0.632	GOLGA8K-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal	protein_coding	GOLGA8J	Clone_based_vega_gene	protein_coding	OTTHUMT00000371108.2	59	0.00	0	C	XM_003118652.2		32686900	32686900	-1	no_errors	ENST00000512626	ensembl	human	novel	69_37n	silent	17	29.17	7	SNP	0.792	T
IRS4	8471	genome.wustl.edu	37	X	107978002	107978002	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A1HO-01A-11D-A13L-09	TCGA-C8-A1HO-10A-01D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6fb921c-78fe-4852-b2a5-edd5a02ae923	dd0c6efe-1e1d-4031-aaaa-6823475036af	g.chrX:107978002C>T	ENST00000372129.2	-	1	1649	c.1573G>A	c.(1573-1575)Gag>Aag	p.E525K	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	525					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CCCTGTCCCTCGCCTGAACAC	0.627																																						dbGAP											0													136.0	136.0	136.0					X																	107978002		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1573G>A	X.37:g.107978002C>T	ENSP00000361202:p.Glu525Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1	p.E525K	ENST00000372129.2	37	c.1573	CCDS14544.1	X	.	.	.	.	.	.	.	.	.	.	C	6.874	0.530644	0.13127	.	.	ENSG00000133124	ENST00000372129	T	0.33654	1.4	4.25	2.46	0.29980	.	0.396443	0.21853	N	0.068157	T	0.15305	0.0369	N	0.08118	0	0.09310	N	1	B	0.24368	0.102	B	0.17098	0.017	T	0.13872	-1.0493	10	0.31617	T	0.26	-0.3898	4.9365	0.13943	0.0:0.6679:0.2127:0.1194	.	525	O14654	IRS4_HUMAN	K	525	ENSP00000361202:E525K	ENSP00000361202:E525K	E	-	1	0	IRS4	107864658	0.000000	0.05858	0.003000	0.11579	0.354000	0.29330	0.657000	0.24963	0.540000	0.28808	0.600000	0.82982	GAG	IRS4	-	NULL	ENSG00000133124		0.627	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS4	HGNC	protein_coding	OTTHUMT00000057879.1	136	0.73	1	C	NM_003604		107978002	107978002	-1	no_errors	ENST00000372129	ensembl	human	known	69_37n	missense	24	71.76	61	SNP	0.071	T
KCNU1	157855	genome.wustl.edu	37	8	36644922	36644922	+	Missense_Mutation	SNP	G	G	T			TCGA-C8-A1HO-01A-11D-A13L-09	TCGA-C8-A1HO-10A-01D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6fb921c-78fe-4852-b2a5-edd5a02ae923	dd0c6efe-1e1d-4031-aaaa-6823475036af	g.chr8:36644922G>T	ENST00000399881.3	+	2	331	c.294G>T	c.(292-294)caG>caT	p.Q98H		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	98					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TTTCAGCCCAGACCTTTGTGG	0.423																																						dbGAP											0													89.0	86.0	87.0					8																	36644922		1916	4118	6034	-	-	-	SO:0001583	missense	0			BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.294G>T	8.37:g.36644922G>T	ENSP00000382770:p.Gln98His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2,prints_K_chnl_Ca-activ_BK_asu	p.Q98H	ENST00000399881.3	37	c.294	CCDS55220.1	8	.	.	.	.	.	.	.	.	.	.	G	17.97	3.519583	0.64634	.	.	ENSG00000215262	ENST00000523973;ENST00000399881	T;T	0.47177	0.85;0.85	5.48	3.68	0.42216	.	.	.	.	.	T	0.63686	0.2532	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.64262	-0.6449	9	0.87932	D	0	-4.9537	8.4124	0.32651	0.1796:0.0:0.8204:0.0	.	98	A8MYU2	KCNU1_HUMAN	H	98	ENSP00000429951:Q98H;ENSP00000382770:Q98H	ENSP00000382770:Q98H	Q	+	3	2	KCNU1	36764080	1.000000	0.71417	0.999000	0.59377	0.917000	0.54804	0.760000	0.26475	0.803000	0.34113	0.655000	0.94253	CAG	KCNU1	-	NULL	ENSG00000215262		0.423	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	KCNU1	HGNC	protein_coding	OTTHUMT00000376631.1	83	0.00	0	G	NM_001031836		36644922	36644922	+1	no_errors	ENST00000399881	ensembl	human	known	69_37n	missense	285	12.58	41	SNP	1.000	T
KIF26A	26153	genome.wustl.edu	37	14	104638201	104638202	+	Frame_Shift_Ins	INS	-	-	G	rs372972875		TCGA-C8-A1HO-01A-11D-A13L-09	TCGA-C8-A1HO-10A-01D-A188-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6fb921c-78fe-4852-b2a5-edd5a02ae923	dd0c6efe-1e1d-4031-aaaa-6823475036af	g.chr14:104638201_104638202insG	ENST00000423312.2	+	6	1255_1256	c.1255_1256insG	c.(1255-1257)cggfs	p.R419fs	KIF26A_ENST00000315264.7_Frame_Shift_Ins_p.R280fs	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	419	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CGCAGGCCCCCGGCGAGCCGCC	0.688																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"""Kinesins"""	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.1257dupG	14.37:g.104638203_104638203dupG	ENSP00000388241:p.Arg419fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TAZ7|Q96GK3|Q9UFL3	Frame_Shift_Ins	INS	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R420fs	ENST00000423312.2	37	c.1255_1256	CCDS45171.1	14																																																																																			KIF26A	-	smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000066735		0.688	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIF26A	HGNC	protein_coding	OTTHUMT00000414356.1	32	0.00	0	-			104638201	104638202	+1	no_errors	ENST00000423312	ensembl	human	known	69_37n	frame_shift_ins	8	27.27	3	INS	0.804:0.791	G
MAP2K4	6416	genome.wustl.edu	37	17	12011212	12011212	+	Nonsense_Mutation	SNP	A	A	T			TCGA-C8-A1HO-01A-11D-A13L-09	TCGA-C8-A1HO-10A-01D-A188-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6fb921c-78fe-4852-b2a5-edd5a02ae923	dd0c6efe-1e1d-4031-aaaa-6823475036af	g.chr17:12011212A>T	ENST00000353533.5	+	5	682	c.619A>T	c.(619-621)Aaa>Taa	p.K207*	MAP2K4_ENST00000415385.3_Nonsense_Mutation_p.K218*|MAP2K4_ENST00000581941.1_3'UTR	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	207	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		AATTTTAGGCAAAATCACTTT	0.318			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																	dbGAP		Rec	yes		17	17p11.2	6416	mitogen-activated protein kinase kinase 4		E	11	Whole gene deletion(10)|Unknown(1)	ovary(4)|breast(4)|biliary_tract(1)|large_intestine(1)|pancreas(1)											131.0	143.0	139.0					17																	12011212		2202	4299	6501	-	-	-	SO:0001587	stop_gained	0			L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.619A>T	17.37:g.12011212A>T	ENSP00000262445:p.Lys207*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_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_cat_dom	p.K218*	ENST00000353533.5	37	c.652	CCDS11162.1	17	.	.	.	.	.	.	.	.	.	.	A	36	5.708560	0.96821	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465;ENST00000536413	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.5441	0.68015	1.0:0.0:0.0:0.0	.	.	.	.	X	207;218;184;79	.	ENSP00000262445:K207X	K	+	1	0	MAP2K4	11951937	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.303000	0.96183	2.073000	0.62155	0.459000	0.35465	AAA	MAP2K4	-	pfam_Prot_kinase_cat_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_cat_dom	ENSG00000065559		0.318	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP2K4	HGNC	protein_coding	OTTHUMT00000441226.1	111	0.00	0	A			12011212	12011212	+1	no_errors	ENST00000415385	ensembl	human	known	69_37n	nonsense	24	72.73	64	SNP	1.000	T
MAP3K5	4217	genome.wustl.edu	37	6	136878950	136878950	+	Silent	SNP	C	C	G			TCGA-C8-A1HO-01A-11D-A13L-09	TCGA-C8-A1HO-10A-01D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6fb921c-78fe-4852-b2a5-edd5a02ae923	dd0c6efe-1e1d-4031-aaaa-6823475036af	g.chr6:136878950C>G	ENST00000359015.4	-	30	4431	c.4071G>C	c.(4069-4071)ggG>ggC	p.G1357G	MAP3K5_ENST00000355845.4_Silent_p.G604G	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1357					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TGCACAGCATCCCTCCCCTGT	0.373																																						dbGAP											0													131.0	115.0	120.0					6																	136878950		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.4071G>C	6.37:g.136878950C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIA0|B4DGB2|Q5THN3|Q99461	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G1357	ENST00000359015.4	37	c.4071	CCDS5179.1	6																																																																																			MAP3K5	-	superfamily_SAM/pointed	ENSG00000197442		0.373	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K5	HGNC	protein_coding	OTTHUMT00000042383.1	82	0.00	0	C			136878950	136878950	-1	no_errors	ENST00000359015	ensembl	human	known	69_37n	silent	22	69.44	50	SNP	0.996	G
MAP4K1	11184	genome.wustl.edu	37	19	39096100	39096100	+	Silent	SNP	C	C	T			TCGA-C8-A1HO-01A-11D-A13L-09	TCGA-C8-A1HO-10A-01D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6fb921c-78fe-4852-b2a5-edd5a02ae923	dd0c6efe-1e1d-4031-aaaa-6823475036af	g.chr19:39096100C>T	ENST00000591517.1	-	19	1423	c.1395G>A	c.(1393-1395)gaG>gaA	p.E465E	MAP4K1_ENST00000396857.2_Silent_p.E465E|MAP4K1_ENST00000423454.2_Silent_p.E127E|MAP4K1_ENST00000586296.1_Intron|MAP4K1_ENST00000589130.1_Silent_p.E461E|MAP4K1_ENST00000589002.1_5'Flank	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	465					activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCTTGTCAAGCTCCCGGGAGG	0.597																																						dbGAP											0													14.0	15.0	15.0					19																	39096100		1787	4043	5830	-	-	-	SO:0001819	synonymous_variant	0			U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6863	protein-coding gene	gene with protein product	"""hematopoietic progenitor kinase 1"""	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.1395G>A	19.37:g.39096100C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Citron,smart_Citron	p.S169N	ENST00000591517.1	37	c.506	CCDS59385.1	19																																																																																			MAP4K1	-	NULL	ENSG00000104814		0.597	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	MAP4K1	HGNC	protein_coding	OTTHUMT00000453390.1	38	0.00	0	C	NM_001042600		39096100	39096100	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000591921	ensembl	human	novel	69_37n	missense	18	41.94	13	SNP	0.053	T
MUC4	4585	genome.wustl.edu	37	3	195515766	195515766	+	Silent	SNP	A	A	G			TCGA-C8-A1HO-01A-11D-A13L-09	TCGA-C8-A1HO-10A-01D-A188-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6fb921c-78fe-4852-b2a5-edd5a02ae923	dd0c6efe-1e1d-4031-aaaa-6823475036af	g.chr3:195515766A>G	ENST00000463781.3	-	2	3144	c.2685T>C	c.(2683-2685)agT>agC	p.S895S	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.S895S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	900	Ser-rich.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGAGAGGCACTGGGAGAAG	0.607																																						dbGAP											0													75.0	78.0	77.0					3																	195515766		2071	4189	6260	-	-	-	SO:0001819	synonymous_variant	0			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.2685T>C	3.37:g.195515766A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom	p.S895	ENST00000463781.3	37	c.2685	CCDS54700.1	3																																																																																			MUC4	-	NULL	ENSG00000145113		0.607	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	154	0.64	1	A	NM_018406		195515766	195515766	-1	no_errors	ENST00000463781	ensembl	human	known	69_37n	silent	108	31.87	51	SNP	0.000	G
NARF	26502	genome.wustl.edu	37	17	80422247	80422247	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A1HO-01A-11D-A13L-09	TCGA-C8-A1HO-10A-01D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6fb921c-78fe-4852-b2a5-edd5a02ae923	dd0c6efe-1e1d-4031-aaaa-6823475036af	g.chr17:80422247G>A	ENST00000309794.11	+	3	391	c.193G>A	c.(193-195)Gga>Aga	p.G65R	NARF_ENST00000581743.1_3'UTR|NARF_ENST00000345415.7_Intron|NARF_ENST00000412079.2_5'UTR|NARF_ENST00000457415.3_Missense_Mutation_p.G65R|NARF_ENST00000390006.4_Missense_Mutation_p.G6R	NM_012336.3|NM_031968.2	NP_036468.1|NP_114174.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor	65						lamin filament (GO:0005638)|nuclear lamina (GO:0005652)|nuclear lumen (GO:0031981)|nucleus (GO:0005634)	lamin binding (GO:0005521)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TGCAGAGGAAGGAGTCCAACT	0.493																																						dbGAP											0													128.0	112.0	117.0					17																	80422247		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC000438	CCDS32777.1, CCDS42403.1, CCDS42404.1	17q25.3	2011-12-19			ENSG00000141562	ENSG00000141562			29916	protein-coding gene	gene with protein product	"""iron-only hydrogenase-like protein 2"""	605349				10514485, 15667261	Standard	NM_031968		Approved	FLJ10067, DKFZp434G0420, IOP2	uc002kfg.4	Q9UHQ1		ENST00000309794.11:c.193G>A	17.37:g.80422247G>A	ENSP00000309899:p.Gly65Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NCJ3|B3KPX2|K4DI98|Q96AY9|Q9BWC6	Missense_Mutation	SNP	pfam_Fe_hydrogenase_lsu_C,pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like	p.G65R	ENST00000309794.11	37	c.193	CCDS32777.1	17	.	.	.	.	.	.	.	.	.	.	G	5.181	0.219025	0.09810	.	.	ENSG00000141562	ENST00000390006;ENST00000374611;ENST00000309794;ENST00000457415	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	5.41	3.42	0.39159	Iron hydrogenase (1);	0.190869	0.46442	D	0.000285	T	0.24890	0.0604	M	0.64404	1.975	0.80722	D	1	P;P;B;B	0.40360	0.714;0.476;0.224;0.156	B;B;B;B	0.41174	0.349;0.275;0.142;0.086	T	0.02484	-1.1152	10	0.62326	D	0.03	-17.5721	10.9569	0.47362	0.1512:0.0:0.8488:0.0	.	65;65;65;65	B4DND8;Q9UHQ1-2;E9PH27;Q9UHQ1	.;.;.;NARF_HUMAN	R	6;65;65;65	ENSP00000374656:G6R;ENSP00000363739:G65R;ENSP00000309899:G65R;ENSP00000414678:G65R	ENSP00000309899:G65R	G	+	1	0	NARF	78015536	1.000000	0.71417	0.105000	0.21289	0.000000	0.00434	2.869000	0.48444	0.667000	0.31107	-0.291000	0.09656	GGA	NARF	-	superfamily_Fe_hydrogenase	ENSG00000141562		0.493	NARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NARF	HGNC	protein_coding	OTTHUMT00000443573.2	86	0.00	0	G	NM_031968		80422247	80422247	+1	no_errors	ENST00000309794	ensembl	human	known	69_37n	missense	92	63.78	162	SNP	0.968	A
OR4C46	119749	genome.wustl.edu	37	11	51515904	51515904	+	Missense_Mutation	SNP	A	A	G			TCGA-C8-A1HO-01A-11D-A13L-09	TCGA-C8-A1HO-10A-01D-A188-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6fb921c-78fe-4852-b2a5-edd5a02ae923	dd0c6efe-1e1d-4031-aaaa-6823475036af	g.chr11:51515904A>G	ENST00000328188.1	+	1	623	c.623A>G	c.(622-624)aAc>aGc	p.N208S		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TGCTTGTTAAACTTTGCCCTC	0.507																																						dbGAP											0													126.0	109.0	115.0					11																	51515904		2201	4296	6497	-	-	-	SO:0001583	missense	0				CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"""GPCR / Class A : Olfactory receptors"""	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.623A>G	11.37:g.51515904A>G	ENSP00000329056:p.Asn208Ser	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.N208S	ENST00000328188.1	37	c.623	CCDS31498.1	11	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.547975	0.00140	.	.	ENSG00000185926	ENST00000328188	T	0.35605	1.3	2.47	-2.33	0.06724	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000134	T	0.06188	0.0160	N	0.00483	-1.445	0.09310	N	1	B	0.21452	0.056	B	0.27887	0.084	T	0.32534	-0.9903	10	0.02654	T	1	.	1.0411	0.01559	0.2867:0.3841:0.1399:0.1893	.	208	A6NHA9	O4C46_HUMAN	S	208	ENSP00000329056:N208S	ENSP00000329056:N208S	N	+	2	0	OR4C46	51372480	0.000000	0.05858	0.001000	0.08648	0.026000	0.11368	-1.581000	0.02119	-0.146000	0.11274	0.102000	0.15555	AAC	OR4C46	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000185926		0.507	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C46	HGNC	protein_coding	OTTHUMT00000391155.1	115	0.00	0	A	NM_001004703		51515904	51515904	+1	no_errors	ENST00000328188	ensembl	human	known	69_37n	missense	102	42.78	77	SNP	0.001	G
OR4K13	390433	genome.wustl.edu	37	14	20502037	20502037	+	Missense_Mutation	SNP	A	A	T			TCGA-C8-A1HO-01A-11D-A13L-09	TCGA-C8-A1HO-10A-01D-A188-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6fb921c-78fe-4852-b2a5-edd5a02ae923	dd0c6efe-1e1d-4031-aaaa-6823475036af	g.chr14:20502037A>T	ENST00000315693.2	-	1	882	c.881T>A	c.(880-882)gTa>gAa	p.V294E	AL359218.1_ENST00000580563.1_RNA	NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	294						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GGCTGCTTTTACCTCTTGATT	0.303																																						dbGAP											0													17.0	19.0	18.0					14																	20502037		2199	4288	6487	-	-	-	SO:0001583	missense	0				CCDS32028.1	14q11.2	2013-09-23			ENSG00000176253	ENSG00000176253		"""GPCR / Class A : Olfactory receptors"""	15351	protein-coding gene	gene with protein product							Standard	NM_001004714		Approved		uc010tkz.2	Q8NH42	OTTHUMG00000170781	ENST00000315693.2:c.881T>A	14.37:g.20502037A>T	ENSP00000319322:p.Val294Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IF13	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.V294E	ENST00000315693.2	37	c.881	CCDS32028.1	14	.	.	.	.	.	.	.	.	.	.	.	9.184	1.024402	0.19433	.	.	ENSG00000176253	ENST00000315693	T	0.39997	1.05	3.47	2.31	0.28768	.	0.253687	0.20897	U	0.083702	T	0.67429	0.2892	H	0.96489	3.83	0.18873	N	0.999982	D	0.56968	0.978	P	0.59825	0.864	T	0.61402	-0.7070	10	0.87932	D	0	.	7.6139	0.28145	0.8909:0.0:0.1091:0.0	.	294	Q8NH42	OR4KD_HUMAN	E	294	ENSP00000319322:V294E	ENSP00000319322:V294E	V	-	2	0	OR4K13	19571877	0.809000	0.29036	0.001000	0.08648	0.291000	0.27294	7.680000	0.84062	0.422000	0.26005	0.334000	0.21626	GTA	OR4K13	-	prints_7TM_GPCR_Rhodpsn	ENSG00000176253		0.303	OR4K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K13	HGNC	protein_coding	OTTHUMT00000410344.1	40	0.00	0	A			20502037	20502037	-1	no_errors	ENST00000315693	ensembl	human	known	69_37n	missense	41	21.15	11	SNP	0.321	T
PAPD4	167153	genome.wustl.edu	37	5	78919122	78919122	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A1HO-01A-11D-A13L-09	TCGA-C8-A1HO-10A-01D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6fb921c-78fe-4852-b2a5-edd5a02ae923	dd0c6efe-1e1d-4031-aaaa-6823475036af	g.chr5:78919122G>A	ENST00000296783.3	+	5	574	c.275G>A	c.(274-276)cGt>cAt	p.R92H	PAPD4_ENST00000504233.1_Missense_Mutation_p.R92H|PAPD4_ENST00000423041.2_Missense_Mutation_p.R92H|PAPD4_ENST00000428308.2_Missense_Mutation_p.R92H|PAPD4_ENST00000453514.1_Missense_Mutation_p.R92H			Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	92					hematopoietic progenitor cell differentiation (GO:0002244)|histone mRNA catabolic process (GO:0071044)|mRNA processing (GO:0006397)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|nuclear RNA-directed RNA polymerase complex (GO:0031380)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)			biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		AAACGGCAACGTTTCCATTCA	0.378																																						dbGAP											0													133.0	118.0	123.0					5																	78919122		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL833136	CCDS4048.1, CCDS75265.1, CCDS75266.1	5q14.1	2014-03-21			ENSG00000164329	ENSG00000164329			26776	protein-coding gene	gene with protein product	"""TUTase2"""	614121				12477932	Standard	NM_173797		Approved	FLJ38499, GLD2, TUT2	uc003kgb.2	Q6PIY7	OTTHUMG00000108163	ENST00000296783.3:c.275G>A	5.37:g.78919122G>A	ENSP00000296783:p.Arg92His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86WZ2|Q8N927	Missense_Mutation	SNP	pfam_PAP_assoc	p.R92H	ENST00000296783.3	37	c.275	CCDS4048.1	5	.	.	.	.	.	.	.	.	.	.	G	27.2	4.813297	0.90707	.	.	ENSG00000164329	ENST00000453514;ENST00000423041;ENST00000504233;ENST00000428308;ENST00000296783	T;T;T;T	0.62941	-0.01;0.0;-0.01;-0.01	5.92	5.92	0.95590	.	0.136051	0.49305	D	0.000152	T	0.67702	0.2921	L	0.29908	0.895	0.44085	D	0.99684	P;D;D	0.89917	0.73;0.958;1.0	B;B;D	0.67725	0.058;0.242;0.953	T	0.68232	-0.5463	10	0.54805	T	0.06	-12.8717	13.5183	0.61553	0.071:0.0:0.929:0.0	.	92;92;92	Q6PIY7;Q6PIY7-2;D6RAF2	GLD2_HUMAN;.;.	H	92	ENSP00000397563:R92H;ENSP00000393412:R92H;ENSP00000396861:R92H;ENSP00000296783:R92H	ENSP00000296783:R92H	R	+	2	0	PAPD4	78954878	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	5.100000	0.64560	2.810000	0.96702	0.585000	0.79938	CGT	PAPD4	-	NULL	ENSG00000164329		0.378	PAPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPD4	HGNC	protein_coding	OTTHUMT00000226967.1	67	0.00	0	G	NM_173797		78919122	78919122	+1	no_errors	ENST00000296783	ensembl	human	known	69_37n	missense	56	43.43	43	SNP	0.965	A
PCDHGB4	8641	genome.wustl.edu	37	5	140769108	140769108	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A1HO-01A-11D-A13L-09	TCGA-C8-A1HO-10A-01D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6fb921c-78fe-4852-b2a5-edd5a02ae923	dd0c6efe-1e1d-4031-aaaa-6823475036af	g.chr5:140769108C>T	ENST00000519479.1	+	1	1657	c.1657C>T	c.(1657-1659)Cgc>Tgc	p.R553C	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	553	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGGACGACCGCAACGACAA	0.677																																						dbGAP											0													36.0	45.0	42.0					5																	140769108		2131	4248	6379	-	-	-	SO:0001583	missense	0			AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1657C>T	5.37:g.140769108C>T	ENSP00000428288:p.Arg553Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R553C	ENST00000519479.1	37	c.1657	CCDS54928.1	5	.	.	.	.	.	.	.	.	.	.	.	12.37	1.916373	0.33815	.	.	ENSG00000253953	ENST00000519479	T	0.61040	0.14	5.05	4.13	0.48395	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.44664	0.1304	N	0.25992	0.78	0.39232	D	0.963708	B;B	0.24721	0.103;0.11	B;B	0.23852	0.049;0.022	T	0.50882	-0.8775	9	0.72032	D	0.01	.	11.6715	0.51403	0.1349:0.7339:0.1312:0.0	.	553;553	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	C	553	ENSP00000428288:R553C	ENSP00000428288:R553C	R	+	1	0	PCDHGB4	140749292	0.021000	0.18746	1.000000	0.80357	0.065000	0.16274	1.127000	0.31357	2.503000	0.84419	0.563000	0.77884	CGC	PCDHGB4	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000253953		0.677	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB4	HGNC	protein_coding	OTTHUMT00000374745.1	37	0.00	0	C	NM_003736		140769108	140769108	+1	no_errors	ENST00000519479	ensembl	human	known	69_37n	missense	15	28.57	6	SNP	1.000	T
PEPD	5184	genome.wustl.edu	37	19	33991853	33991853	+	Silent	SNP	G	G	A			TCGA-C8-A1HO-01A-11D-A13L-09	TCGA-C8-A1HO-10A-01D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6fb921c-78fe-4852-b2a5-edd5a02ae923	dd0c6efe-1e1d-4031-aaaa-6823475036af	g.chr19:33991853G>A	ENST00000244137.7	-	4	417	c.384C>T	c.(382-384)taC>taT	p.Y128Y	PEPD_ENST00000397032.4_Silent_p.Y128Y|PEPD_ENST00000436370.3_Intron	NM_000285.3	NP_000276.2	P12955	PEPD_HUMAN	peptidase D	128					cellular amino acid metabolic process (GO:0006520)|collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)	aminopeptidase activity (GO:0004177)|dipeptidase activity (GO:0016805)|manganese ion binding (GO:0030145)|metallocarboxypeptidase activity (GO:0004181)			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17	Esophageal squamous(110;0.137)					CCTCATCTACGTACTGGACGT	0.552																																						dbGAP											0													130.0	139.0	136.0					19																	33991853		2043	4199	6242	-	-	-	SO:0001819	synonymous_variant	0			BC015027	CCDS42544.1, CCDS54244.1, CCDS54245.1	19q13.11	2008-02-05				ENSG00000124299	3.4.13.9		8840	protein-coding gene	gene with protein product	"""prolidase"""	613230				2925654, 1972707	Standard	NM_000285		Approved		uc002nur.4	P12955		ENST00000244137.7:c.384C>T	19.37:g.33991853G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3Z1|A8K416|A8K696|A8MX47|B4DDB7|B4DGJ1|E9PCE8|Q8TBN9|Q9BT75	Silent	SNP	pfam_Pept_M24_structural-domain,pfam_Aminopep_P_N,superfamily_Pept_M24_structural-domain	p.Y128	ENST00000244137.7	37	c.384	CCDS42544.1	19																																																																																			PEPD	-	pfam_Aminopep_P_N	ENSG00000124299		0.552	PEPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEPD	HGNC	protein_coding	OTTHUMT00000451432.3	88	0.00	0	G	NM_000285		33991853	33991853	-1	no_errors	ENST00000244137	ensembl	human	known	69_37n	silent	40	40.30	27	SNP	0.392	A
RSBN1	54665	genome.wustl.edu	37	1	114340405	114340405	+	Silent	SNP	T	T	C			TCGA-C8-A1HO-01A-11D-A13L-09	TCGA-C8-A1HO-10A-01D-A188-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6fb921c-78fe-4852-b2a5-edd5a02ae923	dd0c6efe-1e1d-4031-aaaa-6823475036af	g.chr1:114340405T>C	ENST00000261441.5	-	2	1020	c.957A>G	c.(955-957)cgA>cgG	p.R319R		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	319						nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCAAATTTAATCGGCACAGCT	0.398																																						dbGAP											0													113.0	114.0	114.0					1																	114340405		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.957A>G	1.37:g.114340405T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Missense_Mutation	SNP	NULL	p.I280V	ENST00000261441.5	37	c.838	CCDS862.1	1																																																																																			RSBN1	-	NULL	ENSG00000081019		0.398	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSBN1	HGNC	protein_coding	OTTHUMT00000033022.2	102	0.00	0	T	NM_018364		114340405	114340405	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000476412	ensembl	human	known	69_37n	missense	73	42.06	53	SNP	0.994	C
SSTR4	6754	genome.wustl.edu	37	20	23016243	23016243	+	Silent	SNP	C	C	T			TCGA-C8-A1HO-01A-11D-A13L-09	TCGA-C8-A1HO-10A-01D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6fb921c-78fe-4852-b2a5-edd5a02ae923	dd0c6efe-1e1d-4031-aaaa-6823475036af	g.chr20:23016243C>T	ENST00000255008.3	+	1	187	c.123C>T	c.(121-123)gaC>gaT	p.D41D	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	41					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					ggcccggggacgcgcgggcgg	0.731																																					Esophageal Squamous(15;850 1104 16640)	dbGAP											0													26.0	35.0	32.0					20																	23016243		2121	4241	6362	-	-	-	SO:0001819	synonymous_variant	0				CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.123C>T	20.37:g.23016243C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RM1|Q17RM3|Q9UIY1	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Somatstn_rcpt_4,prints_7TM_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_Neuropept_W_rcpt,prints_NPY_rcpt,prints_Somatstn_rcpt_1	p.D41	ENST00000255008.3	37	c.123	CCDS42856.1	20																																																																																			SSTR4	-	NULL	ENSG00000132671		0.731	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSTR4	HGNC	protein_coding	OTTHUMT00000078308.1	34	0.00	0	C			23016243	23016243	+1	no_errors	ENST00000255008	ensembl	human	known	69_37n	silent	13	35.00	7	SNP	0.000	T
TPR	7175	genome.wustl.edu	37	1	186312558	186312558	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A1HO-01A-11D-A13L-09	TCGA-C8-A1HO-10A-01D-A188-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6fb921c-78fe-4852-b2a5-edd5a02ae923	dd0c6efe-1e1d-4031-aaaa-6823475036af	g.chr1:186312558G>C	ENST00000367478.4	-	27	3946	c.3650C>G	c.(3649-3651)gCt>gGt	p.A1217G		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1217					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CTCAACCTGAGCCACCTCAAA	0.358			T	NTRK1	papillary thyroid																																	dbGAP		Dom	yes		1	1q25	7175	translocated promoter region		E	0													113.0	108.0	109.0					1																	186312558		1930	4137	6067	-	-	-	SO:0001583	missense	0			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.3650C>G	1.37:g.186312558G>C	ENSP00000356448:p.Ala1217Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.A1217G	ENST00000367478.4	37	c.3650	CCDS41446.1	1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.947941	0.73787	.	.	ENSG00000047410	ENST00000367478	T	0.26660	1.72	5.07	4.15	0.48705	.	0.000000	0.85682	D	0.000000	T	0.25865	0.0630	N	0.24115	0.695	0.54753	D	0.999988	D	0.57257	0.979	P	0.49999	0.628	T	0.04333	-1.0959	10	0.72032	D	0.01	.	13.7376	0.62827	0.0747:0.0:0.9253:0.0	.	1217	P12270	TPR_HUMAN	G	1217	ENSP00000356448:A1217G	ENSP00000356448:A1217G	A	-	2	0	TPR	184579181	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.403000	0.73264	1.149000	0.42402	0.561000	0.74099	GCT	TPR	-	NULL	ENSG00000047410		0.358	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPR	HGNC	protein_coding	OTTHUMT00000086353.2	78	0.00	0	G	NM_003292		186312558	186312558	-1	no_errors	ENST00000367478	ensembl	human	known	69_37n	missense	124	29.14	51	SNP	1.000	C
UCP2	7351	genome.wustl.edu	37	11	73687705	73687705	+	Silent	SNP	C	C	T			TCGA-C8-A1HO-01A-11D-A13L-09	TCGA-C8-A1HO-10A-01D-A188-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6fb921c-78fe-4852-b2a5-edd5a02ae923	dd0c6efe-1e1d-4031-aaaa-6823475036af	g.chr11:73687705C>T	ENST00000310473.3	-	6	1457	c.615G>A	c.(613-615)ctG>ctA	p.L205L	UCP2_ENST00000542615.1_5'Flank|UCP2_ENST00000536983.1_Silent_p.L205L	NM_003355.2	NP_003346.2	P55851	UCP2_HUMAN	uncoupling protein 2 (mitochondrial, proton carrier)	205					aging (GO:0007568)|cellular metabolic process (GO:0044237)|cellular response to amino acid starvation (GO:0034198)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|female pregnancy (GO:0007565)|liver regeneration (GO:0097421)|mitochondrial transport (GO:0006839)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|positive regulation of cell death (GO:0010942)|proton transport (GO:0015992)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to superoxide (GO:0000303)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				large_intestine(1)|lung(3)|prostate(1)	5	Breast(11;0.000112)					GGTTGGCTTTCAGGAGGGCAT	0.557																																					Colon(191;388 2040 43557 45622 48925)	dbGAP											0													78.0	68.0	71.0					11																	73687705		2200	4293	6493	-	-	-	SO:0001819	synonymous_variant	0			U76367	CCDS8228.1	11q13	2014-02-12						"""Solute carriers"""	12518	protein-coding gene	gene with protein product		601693	"""body mass index QTL 4"", ""body mass index quantitative trait 4"""	BMIQ4		9196039, 11381268	Standard	NM_003355		Approved	SLC25A8	uc001oup.1	P55851		ENST00000310473.3:c.615G>A	11.37:g.73687705C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4PJH8|Q53HM3	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling	p.L205	ENST00000310473.3	37	c.615	CCDS8228.1	11																																																																																			UCP2	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom	ENSG00000175567		0.557	UCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UCP2	HGNC	protein_coding	OTTHUMT00000398108.1	64	0.00	0	C	NM_003355		73687705	73687705	-1	no_errors	ENST00000310473	ensembl	human	known	69_37n	silent	64	24.71	21	SNP	1.000	T
