#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_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_Chromosome_hg18	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_End_position_hg18	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_ORegAnno_bin	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_deletion_substructures	i_domain	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	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
SMCHD1	23347	genome.wustl.edu	37	18	2726478	2726478	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr18:2726478G>A	ENST00000320876.6	+	22	3067	c.2729G>A	c.(2728-2730)gGc>gAc	p.G910D	SMCHD1_ENST00000261598.8_Missense_Mutation_p.G910D|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	910					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						ACTCTGCCTGGCTTAAAAGAA	0.254																																																0			18											23.0	23.0	23.0					18																	2726478		1746	3923	5669	2716478	SO:0001583	missense	23347			AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.2729G>A	18.37:g.2726478G>A	ENSP00000326603:p.Gly910Asp		2716478	O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase,HMMPfam_HATPase_c,superfamily_Smc hinge domain,HMMPfam_SMC_hinge	p.G910D	ENST00000320876.6	37	c.2729	CCDS45822.1	18	.	.	.	.	.	.	.	.	.	.	G	12.64	1.999853	0.35320	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.39997	1.05;1.08	5.4	5.4	0.78164	.	0.055838	0.64402	D	0.000001	T	0.49558	0.1564	M	0.61703	1.905	0.43061	D	0.994684	B	0.31054	0.306	B	0.36845	0.234	T	0.53535	-0.8425	10	0.87932	D	0	-10.6682	19.5457	0.95295	0.0:0.0:1.0:0.0	.	910	A6NHR9	SMHD1_HUMAN	D	910	ENSP00000326603:G910D;ENSP00000261598:G910D	ENSP00000261598:G910D	G	+	2	0	SMCHD1	2716478	1.000000	0.71417	0.802000	0.32245	0.659000	0.38960	6.972000	0.76110	2.673000	0.90976	0.655000	0.94253	GGC	-	NULL		0.254	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCHD1	protein_coding	OTTHUMT00000441082.2	G			2716478	+1	no_errors	NM_015295	genbank	human	validated	54_36p	missense	SNP	0.997	A
FASTKD5	60493	genome.wustl.edu	37	20	3127432	3127432	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr20:3127432G>T	ENST00000380266.3	-	2	2606	c.2285C>A	c.(2284-2286)tCt>tAt	p.S762Y	UBOX5_ENST00000217173.2_Intron|UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	762					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						TCAGAGAGCAGAGGTGAATAC	0.428																																																0			20											113.0	111.0	112.0					20																	3127432		2203	4300	6503	3075432	SO:0001583	missense	60493			BC007413	CCDS13048.1	20p13	2006-07-07			ENSG00000215251	ENSG00000215251			25790	protein-coding gene	gene with protein product		614272				11347906	Standard	NM_021826		Approved	FLJ13149	uc002whz.4	Q7L8L6	OTTHUMG00000031727	ENST00000380266.3:c.2285C>A	20.37:g.3127432G>T	ENSP00000369618:p.Ser762Tyr		3075432	Q96JN3|Q9H5D1|Q9H8Y3	Missense_Mutation	SNP	HMMPfam_FAST_1,HMMPfam_FAST_2,HMMPfam_RAP	p.S762Y	ENST00000380266.3	37	c.2285	CCDS13048.1	20	.	.	.	.	.	.	.	.	.	.	G	16.34	3.096618	0.56075	.	.	ENSG00000215251	ENST00000380266	T	0.16897	2.31	5.83	5.83	0.93111	.	0.395066	0.20905	N	0.083578	T	0.11965	0.0291	N	0.14661	0.345	0.37323	D	0.909653	P	0.46706	0.883	B	0.39876	0.312	T	0.08186	-1.0734	10	0.72032	D	0.01	.	14.2932	0.66295	0.0708:0.0:0.9292:0.0	.	762	Q7L8L6	FAKD5_HUMAN	Y	762	ENSP00000369618:S762Y	ENSP00000369618:S762Y	S	-	2	0	FASTKD5	3075432	0.987000	0.35691	0.997000	0.53966	0.979000	0.70002	2.890000	0.48609	2.750000	0.94351	0.655000	0.94253	TCT	-	NULL		0.428	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASTKD5	protein_coding	OTTHUMT00000077701.2	G	NM_021826		3075432	-1	no_errors	NM_021826	genbank	human	validated	54_36p	missense	SNP	1.000	T
MYOM1	8736	genome.wustl.edu	37	18	3102625	3102625	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr18:3102625G>A	ENST00000356443.4	-	23	3755	c.3422C>T	c.(3421-3423)aCc>aTc	p.T1141I	MYOM1_ENST00000261606.7_Missense_Mutation_p.T1045I|MYOM1_ENST00000400569.3_Missense_Mutation_p.T1141I	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1141	Ig-like C2-type 3.			T -> R (in Ref. 5; CAA48833). {ECO:0000305}.	muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AACCTCTTTGGTTCCTACAAG	0.393																																																0			18											112.0	108.0	109.0					18																	3102625		1892	4115	6007	3092625	SO:0001583	missense	8736			AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.3422C>T	18.37:g.3102625G>A	ENSP00000348821:p.Thr1141Ile		3092625	Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,HMMPfam_V-set	p.T1141I	ENST00000356443.4	37	c.3422	CCDS45824.1	18	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215186	0.79352	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.51071	0.85;0.86;0.72	5.56	5.56	0.83823	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.70579	0.3240	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.999;0.998	T	0.66276	-0.5964	10	0.21540	T	0.41	.	19.52	0.95182	0.0:0.0:1.0:0.0	.	1045;1141	P52179-2;P52179	.;MYOM1_HUMAN	I	1141;1141;1045	ENSP00000348821:T1141I;ENSP00000383413:T1141I;ENSP00000261606:T1045I	ENSP00000261606:T1045I	T	-	2	0	MYOM1	3092625	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.802000	0.99131	2.611000	0.88343	0.557000	0.71058	ACC	-	HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409		0.393	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYOM1	protein_coding	OTTHUMT00000441037.2	G	NM_003803		3092625	-1	no_errors	NM_003803	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
CSMD1	64478	genome.wustl.edu	37	8	3267057	3267057	+	Silent	SNP	G	G	C			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr8:3267057G>C	ENST00000520002.1	-	14	2190	c.1635C>G	c.(1633-1635)ctC>ctG	p.L545L	CSMD1_ENST00000539096.1_Silent_p.L544L|CSMD1_ENST00000542608.1_Silent_p.L544L|CSMD1_ENST00000602557.1_Silent_p.L545L|CSMD1_ENST00000537824.1_Silent_p.L544L|CSMD1_ENST00000400186.3_Silent_p.L545L|CSMD1_ENST00000602723.1_Silent_p.L545L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	545	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TATCTCCATGGAGGAAACTGC	0.517																																																0			8											38.0	39.0	38.0					8																	3267057		1886	4114	6000	3254465	SO:0001819	synonymous_variant	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.1635C>G	8.37:g.3267057G>C			3254465	Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032	p.L545	ENST00000520002.1	37	c.1635		8	.	.	.	.	.	.	.	.	.	.	G	7.702	0.693403	0.15039	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.26	-8.6	0.00889	.	.	.	.	.	T	0.47340	0.1440	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56013	-0.8049	4	.	.	.	.	8.1996	0.31417	0.1908:0.5967:0.1049:0.1076	.	.	.	.	A	25	.	.	P	-	1	0	CSMD1	3254465	0.007000	0.16637	0.701000	0.30321	0.781000	0.44180	-1.128000	0.03247	-0.891000	0.03940	0.573000	0.79308	CCA	-	HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain		0.517	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	protein_coding	OTTHUMT00000374500.2	G	NM_033225		3254465	-1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	NM_033225	genbank	human	validated	54_36p	silent	SNP	0.853	C
CAMKK1	84254	genome.wustl.edu	37	17	3779660	3779660	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr17:3779660C>G	ENST00000348335.2	-	10	1001	c.853G>C	c.(853-855)Gat>Cat	p.D285H	CAMKK1_ENST00000158166.5_Missense_Mutation_p.D323H|CAMKK1_ENST00000381771.2_Missense_Mutation_p.D323H|CAMKK1_ENST00000381769.2_Missense_Mutation_p.D312H	NM_032294.2	NP_115670.1	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	285	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		TGCCCATCATCCCCCAGGAGC	0.617																																																0			17											188.0	136.0	154.0					17																	3779660		2203	4300	6503	3726409	SO:0001583	missense	84254			AL136576	CCDS11038.1, CCDS11039.1	17p13.3	2004-02-18			ENSG00000004660	ENSG00000004660			1469	protein-coding gene	gene with protein product		611411				11230166	Standard	NM_172207		Approved	DKFZp761M0423, CAMKKA, MGC34095	uc002fwt.3	Q8N5S9	OTTHUMG00000090725	ENST00000348335.2:c.853G>C	17.37:g.3779660C>G	ENSP00000323118:p.Asp285His		3726409	Q9BQH3	Missense_Mutation	SNP	superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST	p.D323H	ENST00000348335.2	37	c.967	CCDS11038.1	17	.	.	.	.	.	.	.	.	.	.	C	26.5	4.743077	0.89663	.	.	ENSG00000004660	ENST00000381769;ENST00000348335;ENST00000381771;ENST00000158166	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	5.72	5.72	0.89469	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.68851	0.3046	N	0.20304	0.555	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.973;0.981	T	0.72743	-0.4201	10	0.72032	D	0.01	-26.8205	18.8711	0.92315	0.0:1.0:0.0:0.0	.	323;285	F8W9H1;Q8N5S9	.;KKCC1_HUMAN	H	312;285;323;323	ENSP00000371188:D312H;ENSP00000323118:D285H;ENSP00000371190:D323H;ENSP00000158166:D323H	ENSP00000158166:D323H	D	-	1	0	CAMKK1	3726409	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.374000	0.79633	2.717000	0.92951	0.650000	0.86243	GAT	-	superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase		0.617	CAMKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMKK1	protein_coding	OTTHUMT00000207456.1	C	NM_032294, NM_172206, NM_172207		3726409	-1	no_errors	NM_172207	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
MAVS	57506	genome.wustl.edu	37	20	3838323	3838323	+	Silent	SNP	C	C	T			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr20:3838323C>T	ENST00000428216.2	+	3	287	c.159C>T	c.(157-159)gaC>gaT	p.D53D	MAVS_ENST00000416600.2_Intron|MAVS_ENST00000358134.6_Silent_p.D53D	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	53	CARD.|Required for interaction with NLRX1.				activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of IP-10 production (GO:0071660)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of peroxisome organization (GO:1900063)|RIG-I signaling pathway (GO:0039529)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	CARD domain binding (GO:0050700)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GGAACCGGGACACCCTCTGGC	0.627																																																0			20											97.0	87.0	91.0					20																	3838323		2203	4300	6503	3786323	SO:0001819	synonymous_variant	57506			DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888			29233	protein-coding gene	gene with protein product	"""virus-induced signaling adaptor"", ""IFN-B promoter stimulator 1"", ""CARD adaptor inducing IFN-beta"""	609676				16125763, 16153868	Standard	NM_020746		Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.159C>T	20.37:g.3838323C>T			3786323	A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Silent	SNP	NULL	p.D53	ENST00000428216.2	37	c.159	CCDS33437.1	20																																																																																			-	NULL		0.627	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VISA	protein_coding	OTTHUMT00000077784.3	C	NM_020746		3786323	+1	no_errors	NM_020746	genbank	human	validated	54_36p	silent	SNP	0.570	T
CAMSAP3	57662	genome.wustl.edu	37	19	7682693	7682693	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr19:7682693G>T	ENST00000160298.4	+	17	3601	c.3500G>T	c.(3499-3501)tGc>tTc	p.C1167F	CAMSAP3_ENST00000446248.2_Missense_Mutation_p.C1194F	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	1167	CKK. {ECO:0000255|PROSITE- ProRule:PRU00841}.				epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						GACTCGAGCTGCCAGTTCCGG	0.632																																																0			19											29.0	33.0	32.0					19																	7682693		1960	4139	6099	7588693	SO:0001583	missense	57662			AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 80"""	612685	"""KIAA1543"""	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.3500G>T	19.37:g.7682693G>T	ENSP00000160298:p.Cys1167Phe		7588693	Q8NDF1	Missense_Mutation	SNP	superfamily_Calponin-homology domain CH-domain,superfamily_PRC-barrel domain,HMMPfam_DUF1781	p.C1194F	ENST00000160298.4	37	c.3581	CCDS42489.1	19	.	.	.	.	.	.	.	.	.	.	G	24.4	4.531154	0.85706	.	.	ENSG00000076826	ENST00000446248;ENST00000160298	T;T	0.18338	2.23;2.22	5.06	5.06	0.68205	PRC-barrel-like (1);Microtubule-binding calmodulin-regulated spectrin-associated, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.43144	0.1234	M	0.73372	2.23	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.997	T	0.34576	-0.9823	10	0.87932	D	0	-15.9455	17.348	0.87315	0.0:0.0:1.0:0.0	.	1178;1167;1194	D6W648;Q9P1Y5;Q9P1Y5-2	.;CAMP3_HUMAN;.	F	1194;1167	ENSP00000416797:C1194F;ENSP00000160298:C1167F	ENSP00000160298:C1167F	C	+	2	0	KIAA1543	7588693	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.438000	0.97539	2.630000	0.89119	0.462000	0.41574	TGC	-	superfamily_PRC-barrel domain,HMMPfam_DUF1781		0.632	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1543	protein_coding	OTTHUMT00000459300.1	G	XM_048362		7588693	+1	no_errors	NM_001080429	genbank	human	validated	54_36p	missense	SNP	1.000	T
PTPRD	5789	genome.wustl.edu	37	9	8499677	8499677	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr9:8499677C>T	ENST00000381196.4	-	22	2835	c.2292G>A	c.(2290-2292)atG>atA	p.M764I	PTPRD_ENST00000360074.4_Missense_Mutation_p.M751I|PTPRD_ENST00000358503.5_Missense_Mutation_p.M751I|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.M764I|PTPRD_ENST00000356435.5_Missense_Mutation_p.M764I|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000471274.1_5'UTR	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	764	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CATCTTTCAGCATGGGCTGGC	0.443										TSP Lung(15;0.13)																																						0			9											167.0	144.0	152.0					9																	8499677		2203	4300	6503	8489677	SO:0001583	missense	5789			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.2292G>A	9.37:g.8499677C>T	ENSP00000370593:p.Met764Ile		8489677	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1	p.M764I	ENST00000381196.4	37	c.2292	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	C	4.535	0.099385	0.08681	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000540109	T;T;T;T;T	0.56275	0.71;0.71;0.74;0.47;0.71	5.69	4.8	0.61643	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.101299	0.64402	D	0.000003	T	0.31231	0.0790	N	0.05306	-0.075	0.41396	D	0.987643	B;B;B	0.17465	0.001;0.022;0.001	B;B;B	0.16722	0.006;0.016;0.001	T	0.10064	-1.0646	9	.	.	.	.	14.5826	0.68302	0.0:0.9299:0.0:0.0701	.	751;764;764	G3XAE2;Q2HXI4;P23468	.;.;PTPRD_HUMAN	I	764;764;751;751;764	ENSP00000370593:M764I;ENSP00000348812:M764I;ENSP00000353187:M751I;ENSP00000351293:M751I;ENSP00000438164:M764I	.	M	-	3	0	PTPRD	8489677	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.101000	0.57769	1.414000	0.47017	0.591000	0.81541	ATG	-	superfamily_Fibronectin type III,HMMPfam_fn3,HMMSmart_SM00060		0.443	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	protein_coding	OTTHUMT00000055395.3	C			8489677	-1	no_errors	NM_002839	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
RP11-166B2.1	0	genome.wustl.edu	37	16	12027486	12027486	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr16:12027486G>T	ENST00000399147.4	-	4	375	c.376C>A	c.(376-378)Cta>Ata	p.L126I	RP11-166B2.1_ENST00000532936.1_5'UTR																lung(2)	2						TGTCTCCGTAGAGTAATGACG	0.408																																																0			16																																								11934987	SO:0001583	missense	729978																														ENST00000399147.4:c.376C>A	16.37:g.12027486G>T	ENSP00000382101:p.Leu126Ile		11934987		Missense_Mutation	SNP	HMMPfam_NPIP	p.L109I	ENST00000399147.4	37	c.325		16	.	.	.	.	.	.	.	.	.	.	G	10.77	1.444273	0.25987	.	.	ENSG00000234719	ENST00000399147;ENST00000547494	T;T	0.51071	0.72;0.72	.	.	.	.	.	.	.	.	T	0.48429	0.1499	.	.	.	.	.	.	.	.	.	.	.	.	T	0.58352	-0.7651	3	0.87932	D	0	.	.	.	.	.	.	.	.	I	126;109	ENSP00000382101:L126I;ENSP00000448752:L109I	ENSP00000382101:L126I	L	-	1	2	RP11-166B2.1	11934987	0.998000	0.40836	0.098000	0.21074	0.098000	0.18820	0.725000	0.25970	0.064000	0.16427	0.064000	0.15345	CTA	-	HMMPfam_NPIP		0.408	RP11-166B2.1-001	PUTATIVE	basic|appris_principal	protein_coding	LOC729978	protein_coding	OTTHUMT00000388781.3	G			11934987	-1	no_errors	XM_001723016	genbank	human	model	54_36p	missense	SNP	0.000	T
SIN3B	23309	genome.wustl.edu	37	19	16980673	16980673	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr19:16980673G>C	ENST00000248054.5	+	13	2230	c.2209G>C	c.(2209-2211)Gac>Cac	p.D737H	SIN3B_ENST00000379803.1_Missense_Mutation_p.D769H|SIN3B_ENST00000595541.1_Missense_Mutation_p.D327H					SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CAAGCCCCTGGACGATGTCTA	0.642																																																0			19											50.0	44.0	46.0					19																	16980673		2203	4300	6503	16841673	SO:0001583	missense	23309			AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"""SIN3 homolog B, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog B (yeast)"""			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.2209G>C	19.37:g.16980673G>C	ENSP00000248054:p.Asp737His		16841673		Missense_Mutation	SNP	superfamily_PAH2 domain,HMMPfam_PAH,HMMPfam_HDAC_interact,HMMSmart_SM00761	p.D769H	ENST00000248054.5	37	c.2305		19	.	.	.	.	.	.	.	.	.	.	G	15.74	2.922513	0.52653	.	.	ENSG00000127511	ENST00000379803;ENST00000248054	T;T	0.49720	0.77;0.77	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.67011	0.2848	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.993;0.971	T	0.70321	-0.4904	10	0.59425	D	0.04	-44.8798	17.6919	0.88270	0.0:0.0:1.0:0.0	.	327;737;769	B7Z392;O75182-2;O75182	.;.;SIN3B_HUMAN	H	769;737	ENSP00000369131:D769H;ENSP00000248054:D737H	ENSP00000248054:D737H	D	+	1	0	SIN3B	16841673	1.000000	0.71417	0.829000	0.32907	0.021000	0.10359	9.371000	0.97162	2.168000	0.68352	0.313000	0.20887	GAC	-	NULL		0.642	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	SIN3B	protein_coding	OTTHUMT00000462846.1	G	NM_015260		16841673	+1	no_errors	NM_015260	genbank	human	provisional	54_36p	missense	SNP	1.000	C
SPAG6	9576	genome.wustl.edu	37	10	22676766	22676766	+	Silent	SNP	A	A	T			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr10:22676766A>T	ENST00000376624.3	+	6	835	c.693A>T	c.(691-693)tcA>tcT	p.S231S	SPAG6_ENST00000376603.2_Silent_p.S307S|SPAG6_ENST00000313311.6_Silent_p.S231S|SPAG6_ENST00000538630.1_Silent_p.S206S|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000376601.1_Intron	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6	231					cell projection organization (GO:0030030)|spermatid development (GO:0007286)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						AGATCCTTTCAGCTCTCAGTC	0.373																																																0			10											76.0	76.0	76.0					10																	22676766		2203	4300	6503	22716772	SO:0001819	synonymous_variant	9576			AF079363	CCDS7139.1, CCDS7140.1, CCDS58071.1, CCDS73072.1	10p12.31	2014-01-21			ENSG00000077327	ENSG00000077327		"""Armadillo repeat containing"""	11215	protein-coding gene	gene with protein product	"""axoneme central apparatus protein"""	605730				10493827	Standard	NM_012443		Approved	Repro-SA-1, pf16, CT141	uc001iri.3	O75602	OTTHUMG00000017808	ENST00000376624.3:c.693A>T	10.37:g.22676766A>T			22716772	A8K1I8|B4DXZ4|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	Silent	SNP	superfamily_ARM repeat,HMMPfam_Arm,HMMSmart_SM00185	p.S231	ENST00000376624.3	37	c.693	CCDS7139.1	10																																																																																			-	superfamily_ARM repeat,HMMPfam_Arm,HMMSmart_SM00185		0.373	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG6	protein_coding	OTTHUMT00000047187.1	A			22716772	+1	no_errors	NM_012443	genbank	human	reviewed	54_36p	silent	SNP	0.753	T
IL25	64806	genome.wustl.edu	37	14	23844876	23844876	+	Silent	SNP	C	C	T			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr14:23844876C>T	ENST00000329715.2	+	2	579	c.321C>T	c.(319-321)caC>caT	p.H107H	CMTM5_ENST00000359320.3_5'Flank|CMTM5_ENST00000339180.4_5'Flank|CMTM5_ENST00000342473.4_5'Flank|CMTM5_ENST00000397227.3_5'Flank|CMTM5_ENST00000382809.2_5'Flank|CMTM5_ENST00000555731.1_5'Flank|IL25_ENST00000397242.2_Silent_p.H91H	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN	interleukin 25	107					eosinophil differentiation (GO:0030222)|inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to fungus (GO:0009620)|response to nematode (GO:0009624)	extracellular space (GO:0005615)	interleukin-17E receptor binding (GO:0030380)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		ACCTGTACCACGCCCGTTGCC	0.632																																																0			14											92.0	93.0	92.0					14																	23844876		2203	4300	6503	22914716	SO:0001819	synonymous_variant	64806			AF305200	CCDS9597.1, CCDS45086.1	14q11.2	2008-01-07	2006-05-17	2006-05-17	ENSG00000166090	ENSG00000166090		"""Interleukins and interleukin receptors"""	13765	protein-coding gene	gene with protein product		605658	"""interleukin 17E"""	IL17E		11058597, 11754819	Standard	NM_172314		Approved	IL-25, IL-17E	uc001wjq.3	Q9H293	OTTHUMG00000028749	ENST00000329715.2:c.321C>T	14.37:g.23844876C>T			22914716	Q2M3F0|Q8IZV3|Q8WXB0	Silent	SNP	HMMPfam_IL17,superfamily_Cystine-knot cytokines	p.H107	ENST00000329715.2	37	c.321	CCDS9597.1	14																																																																																			-	HMMPfam_IL17,superfamily_Cystine-knot cytokines		0.632	IL25-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL25	protein_coding	OTTHUMT00000071789.2	C			22914716	+1	no_errors	NM_022789	genbank	human	reviewed	54_36p	silent	SNP	0.998	T
KRAS	3845	genome.wustl.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	5144	Substitution - Missense(5142)|Insertion - In frame(2)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	12	GRCh37	CM076251	KRAS	M	rs121913530						93.0	83.0	86.0					12																	25398285		2203	4300	6503	25289552	SO:0001583	missense	3845	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>C	12.37:g.25398285C>G	ENSP00000256078:p.Gly12Arg		25289552	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	HMMSmart_SM00173,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174,HMMSmart_SM00176	p.G12R	ENST00000256078.4	37	c.34	CCDS8703.1	12	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	-	HMMSmart_SM00173,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00174,HMMSmart_SM00176		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KRAS	protein_coding	OTTHUMT00000412232.1	C	NM_033360		25289552	-1	no_errors	NM_033360	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
SH2B1	25970	genome.wustl.edu	37	16	28880684	28880684	+	Missense_Mutation	SNP	G	G	C	rs537530500		TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr16:28880684G>C	ENST00000322610.8	+	7	1728	c.1289G>C	c.(1288-1290)aGc>aCc	p.S430T	SH2B1_ENST00000359285.5_Missense_Mutation_p.S430T|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000545570.1_Missense_Mutation_p.S120T|SH2B1_ENST00000337120.5_Missense_Mutation_p.S430T|SH2B1_ENST00000538342.1_Missense_Mutation_p.S94T|SH2B1_ENST00000395532.4_Missense_Mutation_p.S430T			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	430	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation). {ECO:0000250}.				blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CCCAGCGAGAGCAATGACCGC	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		17534	0.0		0.0	False		,,,				2504	0.001															0			16											41.0	39.0	40.0					16																	28880684		2197	4300	6497	28788185	SO:0001583	missense	25970			AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	30417	protein-coding gene	gene with protein product	"""SH2-B homolog"""	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2		ENST00000322610.8:c.1289G>C	16.37:g.28880684G>C	ENSP00000321221:p.Ser430Thr		28788185	A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Missense_Mutation	SNP	HMMPfam_Phe_ZIP,superfamily_Phenylalanine zipper,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2	p.S430T	ENST00000322610.8	37	c.1289	CCDS53996.1	16	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964227	0.74131	.	.	ENSG00000178188	ENST00000322610;ENST00000545570;ENST00000359285;ENST00000538342;ENST00000395532;ENST00000337120	T;T;T;T;T;T	0.53423	0.62;1.37;0.64;1.29;0.63;0.63	5.17	5.17	0.71159	.	0.390291	0.27429	N	0.019405	T	0.51517	0.1679	N	0.14661	0.345	0.39018	D	0.959698	B;P;P;P;D	0.63880	0.018;0.954;0.892;0.892;0.993	B;D;P;B;D	0.70935	0.013;0.943;0.542;0.422;0.971	T	0.53933	-0.8368	10	0.29301	T	0.29	-37.729	17.4379	0.87557	0.0:0.0:1.0:0.0	.	94;120;430;430;430	B4DLN5;F5GXU7;Q9NRF2-2;Q9NRF2-3;Q9NRF2	.;.;.;.;SH2B1_HUMAN	T	430;120;430;94;430;430	ENSP00000321221:S430T;ENSP00000440354:S120T;ENSP00000352232:S430T;ENSP00000438784:S94T;ENSP00000378903:S430T;ENSP00000337163:S430T	ENSP00000321221:S430T	S	+	2	0	SH2B1	28788185	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.390000	0.59646	2.401000	0.81631	0.467000	0.42956	AGC	-	NULL		0.622	SH2B1-001	KNOWN	basic|CCDS	protein_coding	SH2B1	protein_coding	OTTHUMT00000432666.1	G	NM_015503		28788185	+1	no_errors	NM_015503	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
KRTAP26-1	388818	genome.wustl.edu	37	21	31691854	31691854	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr21:31691854C>G	ENST00000360542.3	-	1	753	c.500G>C	c.(499-501)aGt>aCt	p.S167T		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	167						intermediate filament (GO:0005882)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						GGCCAAGCAACTCGAGGGTTG	0.557																																																0			21											197.0	197.0	197.0					21																	31691854		2203	4300	6503	30613725	SO:0001583	missense	388818			AB096936	CCDS13588.1	21q22.11	2007-11-23			ENSG00000197683	ENSG00000197683		"""Keratin associated proteins"""	33760	protein-coding gene	gene with protein product							Standard	NM_203405		Approved		uc002ynw.3	Q6PEX3	OTTHUMG00000057766	ENST00000360542.3:c.500G>C	21.37:g.31691854C>G	ENSP00000353742:p.Ser167Thr		30613725	B0RZD3	Missense_Mutation	SNP	HMMPfam_PMG	p.S167T	ENST00000360542.3	37	c.500	CCDS13588.1	21	.	.	.	.	.	.	.	.	.	.	C	8.758	0.922997	0.18056	.	.	ENSG00000197683	ENST00000360542	T	0.02916	4.11	5.06	3.2	0.36748	.	0.753115	0.12149	N	0.495117	T	0.02727	0.0082	L	0.27053	0.805	0.09310	N	1	B	0.15719	0.014	B	0.14023	0.01	T	0.42344	-0.9457	10	0.56958	D	0.05	-0.2192	7.4685	0.27334	0.0:0.7394:0.1683:0.0923	.	167	Q6PEX3	KR261_HUMAN	T	167	ENSP00000353742:S167T	ENSP00000353742:S167T	S	-	2	0	KRTAP26-1	30613725	0.001000	0.12720	0.002000	0.10522	0.035000	0.12851	1.213000	0.32407	0.752000	0.32923	0.650000	0.86243	AGT	-	HMMPfam_PMG		0.557	KRTAP26-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP26-1	protein_coding	OTTHUMT00000128218.1	C	NM_203405		30613725	-1	no_errors	NM_203405	genbank	human	validated	54_36p	missense	SNP	0.003	G
HSPA1B	3304	genome.wustl.edu	37	6	31797634	31797634	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr6:31797634C>A	ENST00000375650.3	+	1	2123	c.1907C>A	c.(1906-1908)aCc>aAc	p.T636N	HSPA1B_ENST00000545241.1_Missense_Mutation_p.T545N	NM_005346.4	NP_005337.2	P08107	HSP71_HUMAN	heat shock 70kDa protein 1B	636					ATP catabolic process (GO:0006200)|cellular heat acclimation (GO:0070370)|cellular response to heat (GO:0034605)|gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of inclusion body assembly (GO:0090084)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of erythrocyte differentiation (GO:0045648)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)	aggresome (GO:0016235)|blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|inclusion body (GO:0016234)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|double-stranded RNA binding (GO:0003725)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|protein N-terminus binding (GO:0047485)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|virus receptor activity (GO:0001618)			breast(1)|large_intestine(1)|prostate(1)	3						TCAGGCCCTACCATTGAGGAG	0.562																																																0			6											70.0	84.0	79.0					6																	31797634		1720	3373	5093	31905613	SO:0001583	missense	3304				CCDS34415.1	6p21.3	2011-09-02	2002-08-29		ENSG00000204388	ENSG00000204388		"""Heat shock proteins / HSP70"""	5233	protein-coding gene	gene with protein product		603012	"""heat shock 70kD protein 1B"""			1700760	Standard	NM_005346		Approved	HSP70-2	uc003nxk.2	P08107	OTTHUMG00000031202	ENST00000375650.3:c.1907C>A	6.37:g.31797634C>A	ENSP00000364801:p.Thr636Asn		31905613	B4E3B6|P19790|Q5JQI4|Q5SP17|Q9UQL9|Q9UQM0	Missense_Mutation	SNP	superfamily_Actin-like ATPase domain,HMMPfam_HSP70,PatternScan_HSP70_1,PatternScan_HSP70_2,PatternScan_HSP70_3,superfamily_Heat shock protein 70kD (HSP70) peptide-binding domain,superfamily_Heat shock protein 70kD (HSP70) C-terminal subdomain	p.T636N	ENST00000375650.3	37	c.1907	CCDS34415.1	6	.	.	.	.	.	.	.	.	.	.	C	9.466	1.094263	0.20471	.	.	ENSG00000204388	ENST00000542758;ENST00000375650;ENST00000545429;ENST00000545241	T;T	0.01252	5.36;5.1	4.38	4.38	0.52667	.	0.000000	0.39544	N	0.001333	T	0.02970	0.0088	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45249	-0.9274	7	0.87932	D	0	-29.5842	14.7791	0.69751	0.0:1.0:0.0:0.0	.	.	.	.	N	703;636;619;545	ENSP00000364801:T636N;ENSP00000442789:T545N	ENSP00000364801:T636N	T	+	2	0	HSPA1B	31905613	1.000000	0.71417	1.000000	0.80357	0.131000	0.20780	7.725000	0.84808	2.138000	0.66242	0.467000	0.42956	ACC	-	NULL		0.562	HSPA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA1B	protein_coding	OTTHUMT00000076402.2	C			31905613	+1	no_errors	NM_005346	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
CDK12	51755	genome.wustl.edu	37	17	37682330	37682330	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr17:37682330C>G	ENST00000447079.4	+	13	3554	c.3521C>G	c.(3520-3522)gCc>gGc	p.A1174G	CDK12_ENST00000430627.2_Missense_Mutation_p.A1174G	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1174					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.A1174G(1)		NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GAGACCATGGCCCCAGAGGAG	0.572			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																													Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	1	Substitution - Missense(1)	ovary(1)	17											71.0	65.0	67.0					17																	37682330		2203	4300	6503	34935856	SO:0001583	missense	51755			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.3521C>G	17.37:g.37682330C>G	ENSP00000398880:p.Ala1174Gly		34935856	A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST	p.A1174G	ENST00000447079.4	37	c.3521	CCDS11337.1	17	.	.	.	.	.	.	.	.	.	.	C	14.91	2.677066	0.47886	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.69806	-0.43;-0.42	5.28	4.3	0.51218	.	0.000000	0.47455	D	0.000228	T	0.56601	0.1996	L	0.36672	1.1	0.39952	D	0.974554	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.0;0.001	T	0.54323	-0.8311	10	0.35671	T	0.21	-0.8242	14.2795	0.66202	0.0:0.8512:0.1488:0.0	.	1173;1174;1174	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	G	1174	ENSP00000407720:A1174G;ENSP00000398880:A1174G	ENSP00000407720:A1174G	A	+	2	0	CDK12	34935856	0.987000	0.35691	0.998000	0.56505	0.985000	0.73830	2.711000	0.47177	1.343000	0.45638	0.650000	0.86243	GCC	-	NULL		0.572	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CRKRS	protein_coding	OTTHUMT00000256941.4	C	NM_016507		34935856	+1	no_errors	NM_016507	genbank	human	validated	54_36p	missense	SNP	0.990	G
DEF6	50619	genome.wustl.edu	37	6	35289008	35289008	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr6:35289008C>A	ENST00000316637.5	+	11	1722	c.1717C>A	c.(1717-1719)Cct>Act	p.P573T	DEF6_ENST00000542066.1_Missense_Mutation_p.P318T	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	573						cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						CTTCCAGCCCCCTCTGCTTGC	0.612																																																0			6											158.0	163.0	162.0					6																	35289008		2203	4300	6503	35396986	SO:0001583	missense	50619			AJ276095	CCDS4802.1	6p21.33-p21.1	2013-01-10	2001-11-28		ENSG00000023892	ENSG00000023892		"""Pleckstrin homology (PH) domain containing"""	2760	protein-coding gene	gene with protein product	"""SWAP-70-like adaptor protein of T cells"""	610094	"""differentially expressed in FDCP (mouse homolog) 6"""			19251698	Standard	NM_022047		Approved	IBP, SLAT, SWAP70L	uc003okk.3	Q9H4E7	OTTHUMG00000014563	ENST00000316637.5:c.1717C>A	6.37:g.35289008C>A	ENSP00000319831:p.Pro573Thr		35396986	Q86VF4	Missense_Mutation	SNP	superfamily_SSF47473,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH	p.P573T	ENST00000316637.5	37	c.1717	CCDS4802.1	6	.	.	.	.	.	.	.	.	.	.	C	12.32	1.903237	0.33628	.	.	ENSG00000023892	ENST00000542066;ENST00000316637	T;T	0.23147	1.92;3.52	5.42	0.351	0.16042	.	0.598323	0.18580	N	0.137078	T	0.05593	0.0147	L	0.41824	1.3	0.27743	N	0.944419	B;B;B	0.22414	0.069;0.005;0.005	B;B;B	0.24701	0.055;0.007;0.007	T	0.43925	-0.9361	10	0.09590	T	0.72	0.0062	8.4016	0.32590	0.0:0.5687:0.0:0.4313	.	318;573;573	F5H853;B2RBP7;Q9H4E7	.;.;DEFI6_HUMAN	T	318;573	ENSP00000442166:P318T;ENSP00000319831:P573T	ENSP00000319831:P573T	P	+	1	0	DEF6	35396986	0.001000	0.12720	0.623000	0.29173	0.996000	0.88848	-0.816000	0.04477	-0.007000	0.14345	0.561000	0.74099	CCT	-	NULL		0.612	DEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEF6	protein_coding	OTTHUMT00000040276.1	C	NM_022047		35396986	+1	no_errors	NM_022047	genbank	human	validated	54_36p	missense	SNP	0.006	A
DOPEY2	9980	genome.wustl.edu	37	21	37586824	37586824	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr21:37586824C>T	ENST00000399151.3	+	9	1184	c.1099C>T	c.(1099-1101)Ctc>Ttc	p.L367F	RN7SL73P_ENST00000585239.1_RNA	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	367					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTTTCGCGTCCTCATCAGTCT	0.403																																																0			21											128.0	103.0	111.0					21																	37586824		2203	4300	6503	36508694	SO:0001583	missense	9980			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.1099C>T	21.37:g.37586824C>T	ENSP00000382104:p.Leu367Phe		36508694	D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	HMMPfam_Dopey_N	p.L367F	ENST00000399151.3	37	c.1099	CCDS13643.1	21	.	.	.	.	.	.	.	.	.	.	C	20.7	4.038368	0.75617	.	.	ENSG00000142197	ENST00000399151	T	0.14766	2.48	5.57	4.67	0.58626	.	0.062217	0.64402	D	0.000003	T	0.35970	0.0950	M	0.74881	2.28	0.47341	D	0.999396	D;D	0.89917	0.999;1.0	D;D	0.71870	0.975;0.965	T	0.03662	-1.1015	10	0.45353	T	0.12	.	14.8255	0.70107	0.0:0.9299:0.0:0.0701	.	367;367	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	F	367	ENSP00000382104:L367F	ENSP00000382104:L367F	L	+	1	0	DOPEY2	36508694	1.000000	0.71417	0.996000	0.52242	0.824000	0.46624	4.079000	0.57613	2.621000	0.88768	0.655000	0.94253	CTC	-	NULL		0.403	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY2	protein_coding	OTTHUMT00000194636.1	C	NM_005128		36508694	+1	no_errors	NM_005128	genbank	human	validated	54_36p	missense	SNP	1.000	T
INO80	54617	genome.wustl.edu	37	15	41342295	41342295	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr15:41342295C>G	ENST00000361937.3	-	20	2704	c.2280G>C	c.(2278-2280)gaG>gaC	p.E760D	INO80_ENST00000401393.3_Missense_Mutation_p.E760D			Q9ULG1	INO80_HUMAN	INO80 complex subunit	760	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ACATTAGAATCTCAATCTAAA	0.328																																																0			15											72.0	70.0	71.0					15																	41342295		2203	4300	6503	39129587	SO:0001583	missense	54617			AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.2280G>C	15.37:g.41342295C>G	ENSP00000355205:p.Glu760Asp		39129587	A6H8X4|Q9NTG6	Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_SNF2_N,HMMSmart_SM00490,HMMPfam_Helicase_C	p.E760D	ENST00000361937.3	37	c.2280	CCDS10071.1	15	.	.	.	.	.	.	.	.	.	.	C	18.65	3.670434	0.67814	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	T;T	0.78246	-1.16;-1.16	5.14	2.21	0.28008	SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.85716	0.5761	M	0.77616	2.38	0.58432	D	0.999996	D	0.63046	0.992	D	0.74348	0.983	D	0.85537	0.1213	10	0.87932	D	0	.	10.3698	0.44046	0.0:0.7214:0.0:0.2786	.	760	Q9ULG1	INO80_HUMAN	D	760	ENSP00000355205:E760D;ENSP00000384686:E760D	ENSP00000355205:E760D	E	-	3	2	INO80	39129587	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	1.345000	0.33953	0.574000	0.29417	-0.463000	0.05309	GAG	-	HMMPfam_SNF2_N		0.328	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80	protein_coding	OTTHUMT00000252527.2	C	NM_017553		39129587	-1	no_errors	NM_017553	genbank	human	validated	54_36p	missense	SNP	1.000	G
EIF2B3	8891	genome.wustl.edu	37	1	45454314	45454314	+	5'Flank	SNP	A	A	G			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr1:45454314A>G	ENST00000360403.2	-	0	0				EIF2B3_ENST00000480675.1_5'Flank|EIF2B3_ENST00000372183.3_5'Flank	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa						cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	guanyl-nucleotide exchange factor activity (GO:0005085)|nucleotidyltransferase activity (GO:0016779)|translation initiation factor activity (GO:0003743)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					CTGCCTTTGGAACCTTGTCTG	0.502																																					Colon(26;357 658 2581 11857 12657)											0			1																																								45226901	SO:0001631	upstream_gene_variant	128192			AF257077	CCDS517.1, CCDS53313.1, CCDS72775.1	1p34.1	2008-02-05	2002-08-29		ENSG00000070785	ENSG00000070785			3259	protein-coding gene	gene with protein product		606273	"""eukaryotic translation initiation factor 2B, subunit 3 (gamma, 58kD)"""			10900014	Standard	NM_020365		Approved	EIF2Bgamma, EIF-2B	uc001cmt.3	Q9NR50	OTTHUMG00000008585		1.37:g.45454314A>G	Exception_encountered		45226901	B2RBH8|D3DPZ2|Q5QP89|Q5QP90|Q8NDB5|Q8WV57|Q9H850	Silent	SNP	superfamily_Cyclophilin-like,HMMPfam_Pro_isomerase,PatternScan_CSA_PPIASE_1	p.V28	ENST00000360403.2	37	c.84	CCDS517.1	1																																																																																			-	superfamily_Cyclophilin-like,HMMPfam_Pro_isomerase		0.502	EIF2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC128192	protein_coding	OTTHUMT00000023724.1	A	NM_020365		45226901	-1	no_errors	XM_060887	genbank	human	model	54_36p	silent	SNP	0.999	G
DMXL2	23312	genome.wustl.edu	37	15	51829060	51829060	+	Splice_Site	SNP	C	C	A			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr15:51829060C>A	ENST00000251076.5	-	12	1905		c.e12-1		DMXL2_ENST00000449909.3_Splice_Site|DMXL2_ENST00000543779.2_Splice_Site	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2							cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AAAAAGAAACCTGAAAAACAT	0.328																																																0			15											45.0	45.0	45.0					15																	51829060		2195	4293	6488	49616352	SO:0001630	splice_region_variant	23312			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.1618-1G>T	15.37:g.51829060C>A			49616352	B2RTR3|B7ZMH3|F5GWF1|O94938	Splice_Site	SNP	-	e12-1	ENST00000251076.5	37	c.1618-1	CCDS10141.1	15	.	.	.	.	.	.	.	.	.	.	C	23.7	4.442892	0.83993	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0202	0.92910	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DMXL2	49616352	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.440000	0.80464	2.484000	0.83849	0.591000	0.81541	.	-	-		0.328	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	protein_coding	OTTHUMT00000254671.2	C	NM_015263	Intron	49616352	-1	no_errors	NM_015263	genbank	human	validated	54_36p	splice_site	SNP	1.000	A
OR5M1	390168	genome.wustl.edu	37	11	56380946	56380946	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr11:56380946T>A	ENST00000526538.1	-	1	32	c.33A>T	c.(31-33)gaA>gaT	p.E11D		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	11						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						AGAGAATGAATTCTGTCACTA	0.443																																																0			11											152.0	139.0	143.0					11																	56380946		1890	4116	6006	56137522	SO:0001583	missense	390168			AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"""GPCR / Class A : Olfactory receptors"""	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.33A>T	11.37:g.56380946T>A	ENSP00000435416:p.Glu11Asp		56137522	Q6IF60|Q96RB6	Missense_Mutation	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.E11D	ENST00000526538.1	37	c.33	CCDS53631.1	11	.	.	.	.	.	.	.	.	.	.	T	11.17	1.558901	0.27827	.	.	ENSG00000255012	ENST00000526538	T	0.00566	6.55	3.71	-0.0591	0.13794	.	0.366027	0.19649	N	0.109278	T	0.00580	0.0019	M	0.69185	2.1	0.22457	N	0.999086	B	0.18610	0.029	B	0.18263	0.021	T	0.45366	-0.9266	10	0.56958	D	0.05	-25.6802	4.7503	0.13057	0.0:0.4289:0.2051:0.366	.	11	Q8NGP8	OR5M1_HUMAN	D	11	ENSP00000435416:E11D	ENSP00000435416:E11D	E	-	3	2	OR5M1	56137522	0.000000	0.05858	0.108000	0.21378	0.633000	0.38033	-2.587000	0.00902	-0.168000	0.10853	0.232000	0.17820	GAA	-	superfamily_SSF81321		0.443	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M1	protein_coding	OTTHUMT00000391610.1	T	NM_001004740		56137522	-1	no_errors	NM_001004740	genbank	human	provisional	54_36p	missense	SNP	0.180	A
FLNB	2317	genome.wustl.edu	37	3	58116574	58116574	+	Silent	SNP	C	C	T	rs372181766		TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr3:58116574C>T	ENST00000295956.4	+	25	4494	c.4329C>T	c.(4327-4329)ttC>ttT	p.F1443F	FLNB_ENST00000429972.2_Silent_p.F1443F|FLNB_ENST00000419752.2_Silent_p.F1274F|FLNB_ENST00000490882.1_Silent_p.F1443F|FLNB_ENST00000493452.1_Silent_p.F1274F|FLNB_ENST00000358537.3_Silent_p.F1443F|FLNB_ENST00000357272.4_Silent_p.F1443F|FLNB_ENST00000348383.5_Silent_p.F1443F	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1443	Interaction with FBLP1.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.F1443F(1)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TGCAGTCCTTCACGGTGGACA	0.632																																																1	Substitution - coding silent(1)	ovary(1)	3											32.0	31.0	31.0					3																	58116574		2203	4300	6503	58091614	SO:0001819	synonymous_variant	2317			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.4329C>T	3.37:g.58116574C>T			58091614	B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Silent	SNP	superfamily_Calponin-homology,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_CH,PatternScan_ACTININ_2,superfamily_Ig_E-set,HMMPfam_Filamin,HMMSmart_IG_FLMN	p.F1443	ENST00000295956.4	37	c.4329	CCDS2885.1	3																																																																																			-	superfamily_Ig_E-set,HMMPfam_Filamin,HMMSmart_IG_FLMN		0.632	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLNB	protein_coding	OTTHUMT00000353569.1	C	NM_001457		58091614	+1	no_errors	NM_001457	genbank	human	validated	54_36p	silent	SNP	1.000	T
LINC01122	400955	genome.wustl.edu	37	2	58688103	58688103	+	lincRNA	SNP	T	T	C			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr2:58688103T>C	ENST00000452840.1	+	0	127																											ccgttcccgatatctctcccg	0.537																																																0			2																																								58541607			0																															2.37:g.58688103T>C			58541607		RNA	SNP	-	NULL	ENST00000452840.1	37	NULL		2																																																																																			-	-		0.537	AC007092.1-001	KNOWN	basic	lincRNA	LOC644456	lincRNA	OTTHUMT00000327022.1	T			58541607	-1	pseudogene	XR_039438	genbank	human	model	54_36p	rna	SNP	0.006	C
CD226	10666	genome.wustl.edu	37	18	67563053	67563053	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr18:67563053C>A	ENST00000280200.4	-	4	879	c.611G>T	c.(610-612)tGg>tTg	p.W204L	CD226_ENST00000577287.1_Missense_Mutation_p.W49L|CD226_ENST00000581982.1_Missense_Mutation_p.W49L|CD226_ENST00000582621.1_Missense_Mutation_p.W204L	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	204	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)|cytokine production (GO:0001816)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				GATGACGCTCCACCTTCCGTG	0.522																																					NSCLC(184;838 2130 8673 21498 50749)											0			18											128.0	113.0	118.0					18																	67563053		2203	4300	6503	65714033	SO:0001583	missense	10666			U56102	CCDS11997.1	18q22.3	2013-01-11	2006-03-28		ENSG00000150637	ENSG00000150637		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	16961	protein-coding gene	gene with protein product		605397	"""CD226 antigen"""			8673704	Standard	NM_006566		Approved	DNAM-1, DNAM1, PTA1, TLiSA1	uc002lkm.4	Q15762	OTTHUMG00000132809	ENST00000280200.4:c.611G>T	18.37:g.67563053C>A	ENSP00000280200:p.Trp204Leu		65714033	B2R818	Missense_Mutation	SNP	HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IGc2	p.W204L	ENST00000280200.4	37	c.611	CCDS11997.1	18	.	.	.	.	.	.	.	.	.	.	C	8.015	0.758368	0.15846	.	.	ENSG00000150637	ENST00000280200	T	0.20069	2.1	4.82	-1.47	0.08772	Immunoglobulin V-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.681186	0.16219	N	0.224129	T	0.07683	0.0193	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.27773	-1.0064	10	0.26408	T	0.33	.	4.3663	0.11227	0.1544:0.3872:0.0:0.4585	.	204	Q15762	CD226_HUMAN	L	204	ENSP00000280200:W204L	ENSP00000280200:W204L	W	-	2	0	CD226	65714033	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.678000	0.05209	-0.428000	0.07339	-0.143000	0.13931	TGG	-	HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IGc2		0.522	CD226-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD226	protein_coding	OTTHUMT00000256226.3	C	NM_006566		65714033	-1	no_errors	NM_006566	genbank	human	reviewed	54_36p	missense	SNP	0.000	A
Unknown	0	genome.wustl.edu	37	9	68455133	68455133	+	IGR	SNP	C	C	T	rs200983870	byFrequency	TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr9:68455133C>T								MIR4477B (39745 upstream) : CR786580.2 (57212 downstream)																							AGGCTCCCGCCGGAGCTGCAG	0.627													.|||	2	0.000399361	0.0008	0.0014	5008	,	,		18154	0.0		0.0	False		,,,				2504	0.0															0			9																																								67944953	SO:0001628	intergenic_variant	642236																															9.37:g.68455133C>T			67944953		RNA	SNP	-	NULL		37	NULL		9																																																																																			-	-	0	0.627					LOC642236			C			67944953	-1	no_errors	XR_041085	genbank	human	model	54_36p	rna	SNP	0.000	T
SLC10A1	6554	genome.wustl.edu	37	14	70252852	70252852	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr14:70252852T>G	ENST00000216540.4	-	2	662	c.529A>C	c.(529-531)Aaa>Caa	p.K177Q		NM_003049.3	NP_003040.1	Q14973	NTCP_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 1	177					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)	14				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)	Bumetanide(DB00887)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Ethinyl Estradiol(DB00977)|Indomethacin(DB00328)|Liothyronine(DB00279)|Liotrix(DB01583)|Pitavastatin(DB08860)|Probenecid(DB01032)|Progesterone(DB00396)|Testosterone(DB00624)|Ursodeoxycholic acid(DB01586)	CGTTTGGATTTGAGGACGATC	0.458																																																0			14											197.0	165.0	176.0					14																	70252852		2203	4300	6503	69322605	SO:0001583	missense	6554			L21893	CCDS9797.1	14q24.2	2013-07-18	2013-07-18		ENSG00000100652	ENSG00000100652		"""Solute carriers"""	10905	protein-coding gene	gene with protein product		182396				8132774	Standard	NM_003049		Approved	NTCP	uc001xlr.2	Q14973	OTTHUMG00000171236	ENST00000216540.4:c.529A>C	14.37:g.70252852T>G	ENSP00000216540:p.Lys177Gln		69322605	B9EGB6|Q2TU29	Missense_Mutation	SNP	HMMPfam_SBF	p.K177Q	ENST00000216540.4	37	c.529	CCDS9797.1	14	.	.	.	.	.	.	.	.	.	.	T	22.0	4.226257	0.79576	.	.	ENSG00000100652	ENST00000216540	T	0.13307	2.6	5.01	5.01	0.66863	.	0.252267	0.45361	D	0.000366	T	0.19327	0.0464	L	0.35793	1.09	0.39860	D	0.973366	P	0.49307	0.922	P	0.51945	0.685	T	0.02512	-1.1148	10	0.28530	T	0.3	-1.5623	14.839	0.70209	0.0:0.0:0.0:1.0	.	177	Q14973	NTCP_HUMAN	Q	177	ENSP00000216540:K177Q	ENSP00000216540:K177Q	K	-	1	0	SLC10A1	69322605	1.000000	0.71417	0.941000	0.38009	0.744000	0.42396	7.339000	0.79282	2.227000	0.72691	0.459000	0.35465	AAA	-	HMMPfam_SBF		0.458	SLC10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC10A1	protein_coding	OTTHUMT00000412464.1	T			69322605	-1	no_errors	NM_003049	genbank	human	validated	54_36p	missense	SNP	0.999	G
ARR3	407	genome.wustl.edu	37	X	69500667	69500667	+	Splice_Site	SNP	T	T	A			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chrX:69500667T>A	ENST00000307959.8	+	15	1116	c.1065T>A	c.(1063-1065)caT>caA	p.H355Q	ARR3_ENST00000374495.3_Splice_Site_p.H355Q|RAB41_ENST00000374473.2_5'Flank|RAB41_ENST00000276066.4_5'Flank	NM_004312.2	NP_004303.2	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	355					endocytosis (GO:0006897)|regulation of protein phosphorylation (GO:0001932)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						AGCCATCTCATGGTGAGTGAC	0.542																																																0			X											159.0	114.0	129.0					X																	69500667		2203	4300	6503	69417392	SO:0001630	splice_region_variant	407				CCDS14399.1	Xq13.1	2013-10-11			ENSG00000120500	ENSG00000120500			710	protein-coding gene	gene with protein product	"""arrestin 4"""	301770				8224247	Standard	NM_004312		Approved	ARRX	uc004dyb.2	P36575	OTTHUMG00000021768	ENST00000307959.8:c.1066+1T>A	X.37:g.69500667T>A			69417392	B5B0B9|Q5JT23|Q5JT24|Q6IBF5|Q96EN2	Missense_Mutation	SNP	superfamily_E set domains,HMMPfam_Arrestin_N,PatternScan_ARRESTINS,HMMPfam_Arrestin_C	p.H355Q	ENST00000307959.8	37	c.1065	CCDS14399.1	X	.	.	.	.	.	.	.	.	.	.	T	10.43	1.349074	0.24426	.	.	ENSG00000120500	ENST00000374495;ENST00000374480;ENST00000307959	T;T	0.12984	2.63;3.05	4.85	-9.69	0.00524	Immunoglobulin E-set (1);Arrestin, C-terminal (1);	1.606760	0.03202	N	0.174950	T	0.05410	0.0143	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.25117	-1.0141	10	0.35671	T	0.21	.	4.2199	0.10552	0.2244:0.4055:0.0744:0.2957	.	355;355	P36575;P36575-2	ARRC_HUMAN;.	Q	355	ENSP00000363619:H355Q;ENSP00000311538:H355Q	ENSP00000311538:H355Q	H	+	3	2	ARR3	69417392	0.000000	0.05858	0.000000	0.03702	0.596000	0.36781	-2.430000	0.01024	-3.426000	0.00165	-2.131000	0.00343	CAT	-	superfamily_E set domains		0.542	ARR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ARR3	protein_coding	OTTHUMT00000057055.2	T	NM_004312	Missense_Mutation	69417392	+1	no_errors	NM_004312	genbank	human	validated	54_36p	missense	SNP	0.007	A
KHDC3L	154288	genome.wustl.edu	37	6	74072828	74072828	+	Silent	SNP	A	A	G			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr6:74072828A>G	ENST00000370367.3	+	2	233	c.180A>G	c.(178-180)ggA>ggG	p.G60G		NM_001017361.2	NP_001017361.1	Q587J8	KHD3L_HUMAN	KH domain containing 3-like, subcortical maternal complex member	60	KH; atypical.						RNA binding (GO:0003723)										GCCGGGGCGGAGAACGCATCC	0.617																																																0			6											91.0	83.0	86.0					6																	74072828		2203	4300	6503	74129549	SO:0001819	synonymous_variant	154288			AB211062	CCDS34484.1	6q13	2012-06-25	2012-06-25	2012-06-25	ENSG00000203908	ENSG00000203908			33699	protein-coding gene	gene with protein product	"""ES cell associated transcript 1"""	611687	"""chromosome 6 open reading frame 221"""	C6orf221		21885028	Standard	NM_001017361		Approved	ECAT1	uc003pgt.4	Q587J8	OTTHUMG00000015024	ENST00000370367.3:c.180A>G	6.37:g.74072828A>G			74129549	B2RNW7	Silent	SNP	NULL	p.G60	ENST00000370367.3	37	c.180	CCDS34484.1	6																																																																																			-	NULL		0.617	KHDC3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf221	protein_coding	OTTHUMT00000041202.3	A	NM_001017361		74129549	+1	no_errors	NM_001017361	genbank	human	validated	54_36p	silent	SNP	0.012	G
CDKL2	8999	genome.wustl.edu	37	4	76532439	76532439	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr4:76532439A>G	ENST00000429927.2	-	4	1173	c.470T>C	c.(469-471)gTt>gCt	p.V157A	CDKL2_ENST00000307465.4_Missense_Mutation_p.V157A	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	157	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				sex differentiation (GO:0007548)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			ATCAGTATAAACCTCCCCAGG	0.458																																																0			4											89.0	84.0	86.0					4																	76532439		2203	4300	6503	76751463	SO:0001583	missense	8999			U35146	CCDS3570.1	4q21.21	2011-11-04			ENSG00000138769	ENSG00000138769		"""Cyclin-dependent kinases"""	1782	protein-coding gene	gene with protein product		603442				9000130	Standard	NM_003948		Approved	P56, KKIAMRE	uc003hiq.3	Q92772	OTTHUMG00000130103	ENST00000429927.2:c.470T>C	4.37:g.76532439A>G	ENSP00000412365:p.Val157Ala		76751463	B2R695	Missense_Mutation	SNP	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST	p.V157A	ENST00000429927.2	37	c.470	CCDS3570.1	4	.	.	.	.	.	.	.	.	.	.	a	4.061	0.009070	0.07912	.	.	ENSG00000138769	ENST00000429927;ENST00000307465	T;T	0.64618	-0.11;-0.11	4.72	-0.592	0.11671	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.38188	0.1031	N	0.20766	0.605	0.25320	N	0.989129	B;B	0.09022	0.001;0.002	B;B	0.12156	0.003;0.007	T	0.22941	-1.0202	9	0.11182	T	0.66	-7.8139	5.4053	0.16318	0.4489:0.0:0.4085:0.1427	.	157;157	B4DH08;Q92772	.;CDKL2_HUMAN	A	157	ENSP00000412365:V157A;ENSP00000306340:V157A	ENSP00000306340:V157A	V	-	2	0	CDKL2	76751463	0.038000	0.19896	0.875000	0.34327	0.822000	0.46500	0.300000	0.19156	-0.146000	0.11274	-1.035000	0.02400	GTT	-	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase		0.458	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDKL2	protein_coding	OTTHUMT00000252409.2	A	NM_003948		76751463	-1	no_errors	NM_003948	genbank	human	reviewed	54_36p	missense	SNP	0.974	G
SYTL2	54843	genome.wustl.edu	37	11	85459432	85459432	+	Silent	SNP	G	G	A			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr11:85459432G>A	ENST00000528231.1	-	2	413	c.136C>T	c.(136-138)Ctg>Ttg	p.L46L	SYTL2_ENST00000524452.1_Silent_p.L46L|SYTL2_ENST00000527523.1_5'UTR|SYTL2_ENST00000316356.4_Silent_p.L46L|SYTL2_ENST00000389960.4_Silent_p.L46L	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	46	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		ATATTCTTCAGCTGCTGGTCA	0.388																																																0			11											139.0	129.0	132.0					11																	85459432		2203	4299	6502	85137080	SO:0001819	synonymous_variant	54843			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.136C>T	11.37:g.85459432G>A			85137080	B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Silent	SNP	superfamily_FYVE/PHD zinc finger,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2	p.L46	ENST00000528231.1	37	c.136	CCDS53688.1	11																																																																																			-	NULL		0.388	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL2	protein_coding	OTTHUMT00000392192.1	G	NM_206927		85137080	-1	no_errors	NM_032943	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
TRIM53BP	642425	genome.wustl.edu	37	11	89578228	89578228	+	IGR	SNP	A	A	T			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr11:89578228A>T								TRIM49 (36485 upstream) : TRIM64B (24221 downstream)																							ACTCACAGGGAGACAAAGAAG	0.502																																																0			11																																								89217876	SO:0001628	intergenic_variant	0																															11.37:g.89578228A>T			89217876		Missense_Mutation	SNP	superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,HMMPfam_zf-B_box,HMMSmart_SM00336	p.E98V		37	c.293		11																																																																																			-	superfamily_RING/U-box,HMMPfam_zf-B_box,HMMSmart_SM00336	0	0.502					ENSG00000166013			A			89217876	+1	no_stop_codon	ENST00000359967	ensembl	human	known	54_36p	missense	SNP	0.359	T
SV2B	9899	genome.wustl.edu	37	15	91832845	91832845	+	Silent	SNP	G	G	C	rs373675789		TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr15:91832845G>C	ENST00000394232.1	+	12	2273	c.1803G>C	c.(1801-1803)ggG>ggC	p.G601G	SV2B_ENST00000330276.4_Silent_p.G601G|SV2B_ENST00000545111.2_Silent_p.G450G	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	601					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TGTTCTGTGGGACAAGCATTG	0.532																																																0			15											162.0	135.0	144.0					15																	91832845		2198	4298	6496	89633849	SO:0001819	synonymous_variant	9899			AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.1803G>C	15.37:g.91832845G>C			89633849	B4DH30|C6G489|O94840|Q6IAR8	Silent	SNP	superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1	p.G601	ENST00000394232.1	37	c.1803	CCDS10370.1	15																																																																																			-	superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1		0.532	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SV2B	protein_coding	OTTHUMT00000313494.3	G	NM_014848		89633849	+1	no_errors	NM_014848	genbank	human	validated	54_36p	silent	SNP	0.992	C
PCDH11X	27328	genome.wustl.edu	37	X	91368764	91368764	+	Intron	SNP	G	G	A			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chrX:91368764G>A	ENST00000373094.1	+	3	3878				PCDH11X_ENST00000373097.1_Intron|PCDH11X_ENST00000373088.1_Intron|PCDH11X_ENST00000298274.8_Intron|PCDH11X_ENST00000504220.2_Intron|PCDH11X_ENST00000406881.1_Intron|PCDH11X_ENST00000361655.2_Intron	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked						homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ACAAGAATCCGAATGGGGTCC	0.478																																					NSCLC(38;925 1092 2571 38200 45895)											0			X																																								91255420	SO:0001627	intron_variant	642784			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3034-87610G>A	X.37:g.91368764G>A			91255420	A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	RNA	SNP	-	NULL	ENST00000373094.1	37	NULL	CCDS14461.1	X																																																																																			-	-		0.478	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LOC642784	protein_coding	OTTHUMT00000057436.1	G	NM_032969		91255420	-1	pseudogene	XR_016262	genbank	human	model	54_36p	rna	SNP	0.715	A
KIF20B	9585	genome.wustl.edu	37	10	91511156	91511156	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr10:91511156C>G	ENST00000371728.3	+	24	4215	c.4150C>G	c.(4150-4152)Cag>Gag	p.Q1384E	KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000416354.1_Missense_Mutation_p.Q1414E|KIF20B_ENST00000394289.2_Missense_Mutation_p.Q1384E|KIF20B_ENST00000260753.4_Missense_Mutation_p.Q1344E	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1384					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						ACTAGAAGAACAGGAACAAAC	0.358																																																0			10											160.0	166.0	164.0					10																	91511156		2203	4300	6503	91501136	SO:0001583	missense	9585			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.4150C>G	10.37:g.91511156C>G	ENSP00000360793:p.Gln1384Glu		91501136	A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00129,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1	p.Q1344E	ENST00000371728.3	37	c.4030		10	.	.	.	.	.	.	.	.	.	.	C	26.3	4.725789	0.89298	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;D;T	0.82081	-1.41;-1.47;-1.57;-1.48	5.71	5.71	0.89125	.	0.000000	0.51477	D	0.000100	D	0.90967	0.7160	M	0.70275	2.135	0.58432	D	0.999999	D;D	0.71674	0.997;0.998	D;D	0.83275	0.991;0.996	D	0.89563	0.3808	10	0.45353	T	0.12	-16.9831	20.2195	0.98323	0.0:1.0:0.0:0.0	.	1384;1344	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	E	1344;1414;1384;1384	ENSP00000260753:Q1344E;ENSP00000411545:Q1414E;ENSP00000377830:Q1384E;ENSP00000360793:Q1384E	ENSP00000260753:Q1344E	Q	+	1	0	KIF20B	91501136	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.932000	0.70121	2.852000	0.98041	0.643000	0.83706	CAG	-	NULL		0.358	KIF20B-003	KNOWN	basic	protein_coding	KIF20B	protein_coding	OTTHUMT00000049330.1	C	NM_016195		91501136	+1	no_errors	NM_016195	genbank	human	validated	54_36p	missense	SNP	0.999	G
UNC79	57578	genome.wustl.edu	37	14	94044375	94044375	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr14:94044375G>T	ENST00000393151.2	+	18	2399	c.2399G>T	c.(2398-2400)tGt>tTt	p.C800F	UNC79_ENST00000256339.4_Missense_Mutation_p.C623F|UNC79_ENST00000555664.1_Missense_Mutation_p.C800F|UNC79_ENST00000553484.1_Missense_Mutation_p.C800F			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	800					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AATCTAAATTGTTTCATCCTC	0.413																																																0			14											128.0	120.0	123.0					14																	94044375		2203	4300	6503	93114128	SO:0001583	missense	57578			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.2399G>T	14.37:g.94044375G>T	ENSP00000376858:p.Cys800Phe		93114128	B5MDL6|Q6ZUT7	Missense_Mutation	SNP	NULL	p.C623F	ENST00000393151.2	37	c.1868		14	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402499	0.83230	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.25085	1.83;1.83;1.82;1.83	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.50034	0.1592	L	0.57536	1.79	0.80722	D	1	D	0.65815	0.995	D	0.79108	0.992	T	0.50259	-0.8849	10	0.87932	D	0	-3.5131	19.0159	0.92894	0.0:0.0:1.0:0.0	.	800	C9JQL1	.	F	623;800;800;800;800	ENSP00000256339:C623F;ENSP00000450868:C800F;ENSP00000451360:C800F;ENSP00000376858:C800F	ENSP00000256339:C623F	C	+	2	0	KIAA1409	93114128	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.809000	0.99208	2.502000	0.84385	0.650000	0.86243	TGT	-	NULL		0.413	UNC79-006	KNOWN	basic	protein_coding	KIAA1409	protein_coding	OTTHUMT00000412766.1	G	XM_028395		93114128	+1	no_errors	NM_020818	genbank	human	validated	54_36p	missense	SNP	1.000	T
ANKRD19P	138649	genome.wustl.edu	37	9	95648457	95648457	+	RNA	SNP	G	G	T			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr9:95648457G>T	ENST00000446878.1	+	0	1719				ANKRD19P_ENST00000473204.1_RNA																							ACCCTGAATGGCCTTTGTTGA	0.502																																																0			9																																								94688278			0																															9.37:g.95648457G>T			94688278		RNA	SNP	-	NULL	ENST00000446878.1	37	NULL		9																																																																																			-	-		0.502	RP11-526D8.7-006	PUTATIVE	basic	processed_transcript	LOC642943	pseudogene	OTTHUMT00000316907.1	G			94688278	+1	pseudogene	XR_039168	genbank	human	model	54_36p	rna	SNP	0.078	T
TMEM130	222865	genome.wustl.edu	37	7	98445826	98445826	+	Silent	SNP	C	C	T			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr7:98445826C>T	ENST00000416379.2	-	8	1165	c.1161G>A	c.(1159-1161)ccG>ccA	p.P387P	TMEM130_ENST00000474857.1_5'Flank|TMEM130_ENST00000450876.1_Silent_p.P291P|TMEM130_ENST00000546258.1_Silent_p.P356P|TMEM130_ENST00000339375.4_Silent_p.P375P|TMEM130_ENST00000345589.4_Silent_p.P273P			Q8N3G9	TM130_HUMAN	transmembrane protein 130	387						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGGGTGGCTCCGGGTTCTTGT	0.552																																																0			7											45.0	45.0	45.0					7																	98445826		2203	4300	6503	98283762	SO:0001819	synonymous_variant	222865				CCDS5658.1, CCDS47649.1, CCDS47650.1	7q22.1	2006-03-09			ENSG00000166448	ENSG00000166448			25429	protein-coding gene	gene with protein product						12975309	Standard	NM_152913		Approved	DKFZp761L1417, FLJ42643	uc003upo.3	Q8N3G9	OTTHUMG00000154419	ENST00000416379.2:c.1161G>A	7.37:g.98445826C>T			98283762	A4D266|B7Z364|Q8IY46|Q8N0W9|Q8N3R2	Silent	SNP	superfamily_PKD domain	p.P375	ENST00000416379.2	37	c.1125	CCDS47650.1	7																																																																																			-	NULL		0.552	TMEM130-008	KNOWN	basic|CCDS	protein_coding	TMEM130	protein_coding	OTTHUMT00000380713.1	C	NM_152913		98283762	-1	no_errors	NM_152913	genbank	human	validated	54_36p	silent	SNP	0.928	T
VCAM1	7412	genome.wustl.edu	37	1	101190292	101190292	+	Nonsense_Mutation	SNP	G	G	A			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr1:101190292G>A	ENST00000294728.2	+	4	875	c.774G>A	c.(772-774)tgG>tgA	p.W258*	VCAM1_ENST00000370119.4_Nonsense_Mutation_p.W196*|VCAM1_ENST00000370115.1_Nonsense_Mutation_p.W258*|VCAM1_ENST00000347652.2_Nonsense_Mutation_p.W258*	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	258	Ig-like C2-type 3.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	AGATTTTCTGGAGTAAGAAAT	0.428																																																0			1											77.0	73.0	75.0					1																	101190292		2203	4299	6502	100962880	SO:0001587	stop_gained	7412			M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.774G>A	1.37:g.101190292G>A	ENSP00000294728:p.Trp258*		100962880	A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Nonsense_Mutation	SNP	HMMPfam_I-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_C2-set,HMMPfam_ig,HMMSmart_SM00406	p.W258*	ENST00000294728.2	37	c.774	CCDS773.1	1	.	.	.	.	.	.	.	.	.	.	g	37	6.379206	0.97520	.	.	ENSG00000162692	ENST00000370119;ENST00000347652;ENST00000294728;ENST00000370115	.	.	.	5.38	5.38	0.77491	.	0.196799	0.49916	D	0.000140	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.5938	14.9889	0.71371	0.0:0.0:1.0:0.0	.	.	.	.	X	196;258;258;258	.	ENSP00000294728:W258X	W	+	3	0	VCAM1	100962880	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	5.344000	0.65981	2.692000	0.91855	0.651000	0.88453	TGG	-	superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMSmart_SM00406		0.428	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCAM1	protein_coding	OTTHUMT00000030213.1	G	NM_001078		100962880	+1	no_errors	NM_001078	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	A
DIO3	1735	genome.wustl.edu	37	14	102028323	102028323	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr14:102028323A>C	ENST00000510508.4	+	1	636	c.490A>C	c.(490-492)Aat>Cat	p.N164H	DIO3OS_ENST00000408206.1_lincRNA|DIO3_ENST00000359323.3_Missense_Mutation_p.N138H			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	164					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|positive regulation of multicellular organism growth (GO:0040018)|small molecule metabolic process (GO:0044281)|thyroid hormone catabolic process (GO:0042404)|thyroid hormone generation (GO:0006590)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thyroxine 5'-deiodinase activity (GO:0004800)|thyroxine 5-deiodinase activity (GO:0033798)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				GCTGGTTCTCAATTTCGGCAG	0.637																																																0			14											31.0	36.0	34.0					14																	102028323		2064	4203	6267	101098076	SO:0001583	missense	1735			S79854	CCDS41992.1, CCDS41992.2	14q32	2012-10-08			ENSG00000197406	ENSG00000197406			2885	protein-coding gene	gene with protein product		601038		TXDI3		9787088, 7593630	Standard	NM_001362		Approved		uc021sdx.1	P55073	OTTHUMG00000160681	ENST00000510508.4:c.490A>C	14.37:g.102028323A>C	ENSP00000427336:p.Asn164His		101098076	G3XAM0|Q8WVN5	Missense_Mutation	SNP	HMMPfam_T4_deiodinase	p.N138H	ENST00000510508.4	37	c.412	CCDS41992.2	14	.	.	.	.	.	.	.	.	.	.	A	21.1	4.092886	0.76756	.	.	ENSG00000197406;ENSG00000258865	ENST00000359323;ENST00000510508	T;T	0.46451	0.87;0.87	3.51	3.51	0.40186	Thioredoxin-like fold (1);	0.000000	0.49305	U	0.000160	T	0.67961	0.2949	M	0.90369	3.11	0.36669	D	0.878415	D	0.89917	1.0	D	0.87578	0.998	T	0.78770	-0.2074	10	0.87932	D	0	.	11.3789	0.49746	1.0:0.0:0.0:0.0	.	138	P55073	IOD3_HUMAN	H	138;164	ENSP00000352273:N138H;ENSP00000427336:N164H	ENSP00000352273:N164H	N	+	1	0	DIO3;AL049836.1	101098076	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	7.220000	0.78008	1.469000	0.48083	0.379000	0.24179	AAT	-	HMMPfam_T4_deiodinase		0.637	DIO3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS|seleno	protein_coding	DIO3	protein_coding	OTTHUMT00000361712.4	A	NM_001362		101098076	+1	pseudogene	NM_001362	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
FGF14	2259	genome.wustl.edu	37	13	102527630	102527630	+	Silent	SNP	A	A	T			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr13:102527630A>T	ENST00000376143.4	-	2	209	c.210T>A	c.(208-210)ggT>ggA	p.G70G	FGF14_ENST00000376131.4_Silent_p.G75G|FGF14_ENST00000468052.1_5'UTR	NM_004115.3	NP_004106.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	70					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|JNK cascade (GO:0007254)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)	p.G75G(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGGTCACTATACCCTTGAGCT	0.418																																																1	Substitution - coding silent(1)	ovary(1)	13											148.0	131.0	137.0					13																	102527630		2203	4300	6503	101325631	SO:0001819	synonymous_variant	2259				CCDS9500.1, CCDS9501.1	13q34	2008-02-05			ENSG00000102466	ENSG00000102466			3671	protein-coding gene	gene with protein product		601515				8790420, 17236779	Standard	NM_175929		Approved	FHF4, SCA27	uc001vpf.2	Q92915	OTTHUMG00000017303	ENST00000376143.4:c.210T>A	13.37:g.102527630A>T			101325631	Q86YN7|Q96QX6	Silent	SNP	superfamily_Cytok_IL1_like,HMMSmart_FGF,HMMPfam_FGF,PatternScan_HBGF_FGF	p.G75	ENST00000376143.4	37	c.225	CCDS9501.1	13																																																																																			-	superfamily_Cytok_IL1_like,HMMSmart_FGF		0.418	FGF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF14	protein_coding	OTTHUMT00000045679.2	A			101325631	-1	no_errors	NM_175929	genbank	human	reviewed	54_36p	silent	SNP	1.000	T
FER	2241	genome.wustl.edu	37	5	108387156	108387156	+	Intron	SNP	C	C	A			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr5:108387156C>A	ENST00000281092.4	+	16	2308				FER_ENST00000438717.2_Intron	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase						actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		TCGGGGAAATCAAAAGGCTGT	0.488																																					Colon(146;1051 1799 9836 27344 47401)											0			5																																								108415055	SO:0001627	intron_variant	0			J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	3655	protein-coding gene	gene with protein product	"""phosphoprotein NCP94"", ""protein phosphatase 1, regulatory subunit 74"""	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.1924+4257C>A	5.37:g.108387156C>A			108415055	B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	HMMPfam_Connexin,HMMSmart_SM00037,PatternScan_CONNEXINS_1,HMMPfam_Connexin_CCC,HMMPfam_Connexin43	p.D335Y	ENST00000281092.4	37	c.1003	CCDS4098.1	5																																																																																			-	NULL		0.488	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000176857	protein_coding	OTTHUMT00000250664.1	C	NM_005246		108415055	-1	no_errors	ENST00000314747	ensembl	human	known	54_36p	missense	SNP	1.000	A
ATXN7L2	127002	genome.wustl.edu	37	1	110029152	110029152	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr1:110029152C>G	ENST00000369870.3	+	3	233	c.218C>G	c.(217-219)cCt>cGt	p.P73R		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	73										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GGGCACTGCCCTGCCCATGAT	0.562																																																0			1											68.0	55.0	60.0					1																	110029152		2203	4300	6503	109830675	SO:0001583	missense	127002			BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.218C>G	1.37:g.110029152C>G	ENSP00000358886:p.Pro73Arg		109830675		Missense_Mutation	SNP	HMMPfam_SCA7	p.P73R	ENST00000369870.3	37	c.218	CCDS30794.1	1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002218	0.74932	.	.	ENSG00000162650	ENST00000369870;ENST00000541125	T	0.31247	1.5	4.72	4.72	0.59763	.	0.000000	0.56097	D	0.000031	T	0.46328	0.1387	L	0.61036	1.89	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.49943	-0.8885	10	0.87932	D	0	-7.4444	16.801	0.85614	0.0:1.0:0.0:0.0	.	73	Q5T6C5	AT7L2_HUMAN	R	73	ENSP00000358886:P73R	ENSP00000358886:P73R	P	+	2	0	ATXN7L2	109830675	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.311000	0.78958	2.346000	0.79739	0.484000	0.47621	CCT	-	NULL		0.562	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN7L2	protein_coding	OTTHUMT00000030331.1	C	NM_153340		109830675	+1	no_errors	NM_153340	genbank	human	validated	54_36p	missense	SNP	1.000	G
TNC	3371	genome.wustl.edu	37	9	117846715	117846715	+	Missense_Mutation	SNP	G	G	A	rs375940361		TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr9:117846715G>A	ENST00000350763.4	-	4	2315	c.1904C>T	c.(1903-1905)aCg>aTg	p.T635M	TNC_ENST00000542877.1_Missense_Mutation_p.T635M|TNC_ENST00000535648.1_Missense_Mutation_p.T635M|TNC_ENST00000341037.4_Missense_Mutation_p.T635M|TNC_ENST00000340094.3_Missense_Mutation_p.T635M|TNC_ENST00000537320.1_Missense_Mutation_p.T635M|TNC_ENST00000423613.2_Missense_Mutation_p.T635M|TNC_ENST00000346706.3_Missense_Mutation_p.T635M|TNC_ENST00000345230.3_Missense_Mutation_p.T635M	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	635	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CGTCTCTTCCGTCACTTCTGT	0.522																																																0			9						G	MET/THR	0,4406		0,0,2203	127.0	115.0	119.0		1904	5.9	1.0	9		119	1,8599	2.2+/-6.3	0,1,4299	no	missense	TNC	NM_002160.3	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	635/2202	117846715	1,13005	2203	4300	6503	116886536	SO:0001583	missense	3371				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.1904C>T	9.37:g.117846715G>A	ENSP00000265131:p.Thr635Met		116886536	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_EGF,HMMPfam_EGF_2,HMMPfam_EGF,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like,HMMSmart_FBG,HMMPfam_Fibrinogen_C,superfamily_Fibrinogen_a/b/g_C	p.T635M	ENST00000350763.4	37	c.1904	CCDS6811.1	9	.	.	.	.	.	.	.	.	.	.	G	25.0	4.587367	0.86851	0.0	1.16E-4	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.60920	3.27;0.15;3.27;0.15;0.15;0.15;0.15;0.15;0.15	5.93	5.93	0.95920	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.092011	0.85682	D	0.000000	D	0.82563	0.5064	M	0.91561	3.22	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.85139	0.0979	10	0.72032	D	0.01	.	20.3422	0.98769	0.0:0.0:1.0:0.0	.	635;635	E9PC84;P24821	.;TENA_HUMAN	M	635	ENSP00000344400:T635M;ENSP00000438152:T635M;ENSP00000344555:T635M;ENSP00000345861:T635M;ENSP00000265131:T635M;ENSP00000339553:T635M;ENSP00000411406:T635M;ENSP00000443478:T635M;ENSP00000442242:T635M	ENSP00000344400:T635M	T	-	2	0	TNC	116886536	1.000000	0.71417	0.990000	0.47175	0.954000	0.61252	6.044000	0.71012	2.810000	0.96702	0.655000	0.94253	ACG	-	HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like		0.522	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNC	protein_coding	OTTHUMT00000055418.2	G	NM_002160		116886536	-1	no_errors	NM_002160	genbank	human	validated	54_36p	missense	SNP	1.000	A
TRIAP1	51499	genome.wustl.edu	37	12	120884482	120884482	+	5'Flank	SNP	C	C	T			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr12:120884482C>T	ENST00000546954.1	-	0	0				AL021546.6_ENST00000551806.1_Silent_p.C66C|GATC_ENST00000551765.1_Missense_Mutation_p.A35V|TRIAP1_ENST00000302432.3_5'Flank	NM_016399.2	NP_057483.1	O43715	TRIA1_HUMAN	TP53 regulated inhibitor of apoptosis 1						cellular response to UV (GO:0034644)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|phospholipid transport (GO:0015914)|positive regulation of phospholipid transport (GO:2001140)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of membrane lipid distribution (GO:0097035)	mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	p53 binding (GO:0002039)					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATCACGGCTGCGGTGATCGAG	0.692																																																0			12											28.0	32.0	31.0					12																	120884482		2200	4296	6496	119368865	SO:0001631	upstream_gene_variant	283459				CCDS9198.1	12q24.31	2012-10-15			ENSG00000170855	ENSG00000170855			26937	protein-coding gene	gene with protein product	"""p53-inducible cell-survival factor"", ""mitochondrial distribution and morphology 35 homolog (S. cerevisiae)"""	614943				11042152, 15735003	Standard	NM_016399		Approved	P53CSV, WF-1, HSPC132, p53CSV, MDM35	uc001tyg.3	O43715	OTTHUMG00000047787		12.37:g.120884482C>T	Exception_encountered		119368865	B2R4Z7|Q5RKS5|Q6LCA7	Missense_Mutation	SNP	HMMPfam_Glu-tRNAGln	p.A35V	ENST00000546954.1	37	c.104	CCDS9198.1	12	.	.	.	.	.	.	.	.	.	.	c	16.41	3.115882	0.56505	.	.	ENSG00000257218	ENST00000551765	T	0.48836	0.8	5.08	1.33	0.21861	.	0.401624	0.29293	N	0.012561	T	0.42359	0.1199	L	0.61036	1.89	0.09310	N	1	B	0.31040	0.305	B	0.25405	0.06	T	0.30327	-0.9982	10	0.44086	T	0.13	-5.5013	13.4488	0.61158	0.4337:0.5663:0.0:0.0	.	35	O43716	GATC_HUMAN	V	35	ENSP00000446872:A35V	ENSP00000448397:A35V	A	+	2	0	AL021546.1	119368865	0.829000	0.29322	0.025000	0.17156	0.024000	0.10985	2.150000	0.42254	0.070000	0.16634	-1.228000	0.01579	GCG	-	NULL		0.692	TRIAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATC	protein_coding	OTTHUMT00000108980.3	C	NM_016399		119368865	+1	no_errors	NM_176818	genbank	human	provisional	54_36p	missense	SNP	0.029	T
USP53	54532	genome.wustl.edu	37	4	120189534	120189534	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr4:120189534C>G	ENST00000274030.6	+	14	2426	c.1247C>G	c.(1246-1248)tCt>tGt	p.S416C	USP53_ENST00000450251.1_Missense_Mutation_p.S416C	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53											breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						ATTTCATCATCTAATCGGAGC	0.363																																																0			4											73.0	68.0	69.0					4																	120189534		1848	4104	5952	120408982	SO:0001583	missense	54532			BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"""Ubiquitin-specific peptidases"""	29255	protein-coding gene	gene with protein product			"""ubiquitin specific protease 53"""			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.1247C>G	4.37:g.120189534C>G	ENSP00000274030:p.Ser416Cys		120408982		Missense_Mutation	SNP	superfamily_SSF54001,HMMPfam_UCH	p.S416C	ENST00000274030.6	37	c.1247	CCDS43265.1	4	.	.	.	.	.	.	.	.	.	.	C	8.399	0.841538	0.16963	.	.	ENSG00000145390	ENST00000274030;ENST00000450251	T;T	0.44482	0.92;0.92	5.46	4.29	0.51040	.	0.207171	0.39475	N	0.001356	T	0.19805	0.0476	N	0.08118	0	0.22142	N	0.999335	P	0.41748	0.761	B	0.34038	0.174	T	0.06734	-1.0810	10	0.51188	T	0.08	-7.6001	9.337	0.38056	0.0:0.083:0.0:0.917	.	416	Q70EK8	UBP53_HUMAN	C	416	ENSP00000274030:S416C;ENSP00000409906:S416C	ENSP00000274030:S416C	S	+	2	0	USP53	120408982	1.000000	0.71417	0.889000	0.34880	0.189000	0.23516	4.129000	0.57957	0.922000	0.37019	-0.471000	0.05019	TCT	-	NULL		0.363	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP53	protein_coding	OTTHUMT00000364564.2	C	XM_052597		120408982	+1	no_errors	NM_019050	genbank	human	validated	54_36p	missense	SNP	0.721	G
DCAF12L2	340578	genome.wustl.edu	37	X	125298898	125298898	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chrX:125298898C>T	ENST00000360028.2	-	1	1036	c.1010G>A	c.(1009-1011)cGc>cAc	p.R337H	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.R337H			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	337										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GTTCTGCTGGCGCTGGCGCGG	0.622																																																0			X											55.0	59.0	57.0					X																	125298898		2203	4300	6503	125126579	SO:0001583	missense	340578			AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.1010G>A	X.37:g.125298898C>T	ENSP00000353128:p.Arg337His		125126579	B2RN42	Missense_Mutation	SNP	PatternScan_WD_REPEATS_1,superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40	p.R337H	ENST00000360028.2	37	c.1010	CCDS43991.1	X	.	.	.	.	.	.	.	.	.	.	C	7.417	0.635902	0.14386	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.63580	-0.05;-0.05	4.05	2.22	0.28083	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.964031	0.08457	N	0.943000	T	0.44371	0.1290	L	0.29908	0.895	0.29364	N	0.864442	D	0.54772	0.968	B	0.38327	0.271	T	0.38286	-0.9668	10	0.40728	T	0.16	.	5.4353	0.16478	0.0:0.4876:0.3958:0.1165	.	337	Q5VW00	DC122_HUMAN	H	337	ENSP00000441489:R337H;ENSP00000353128:R337H	ENSP00000353128:R337H	R	-	2	0	DCAF12L2	125126579	0.005000	0.15991	0.248000	0.24265	0.814000	0.46013	0.315000	0.19451	0.458000	0.26988	0.544000	0.68410	CGC	-	superfamily_WD40_like		0.622	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR40C	protein_coding	OTTHUMT00000058181.1	C	NM_001013628		125126579	-1	no_errors	NM_001013628	genbank	human	provisional	54_36p	missense	SNP	0.998	T
GSDMC	56169	genome.wustl.edu	37	8	130788401	130788401	+	Silent	SNP	G	G	T	rs116234640		TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr8:130788401G>T	ENST00000276708.4	-	3	1232	c.351C>A	c.(349-351)ctC>ctA	p.L117L		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	117						cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						TTTGAAACTCGAGGGAGCATC	0.493																																																0			8											198.0	161.0	173.0					8																	130788401		2203	4300	6503	130857583	SO:0001819	synonymous_variant	56169			AB042405	CCDS6360.1	8q24.21	2014-05-14	2008-07-31	2008-07-31	ENSG00000147697	ENSG00000147697			7151	protein-coding gene	gene with protein product		608384	"""melanoma-derived leucine zipper, extra-nuclear factor"""	MLZE		17350798	Standard	NM_031415		Approved		uc003ysr.3	Q9BYG8	OTTHUMG00000164851	ENST00000276708.4:c.351C>A	8.37:g.130788401G>T			130857583	Q5XKF3|Q6P494	Silent	SNP	HMMPfam_Gasdermin	p.L117	ENST00000276708.4	37	c.351	CCDS6360.1	8																																																																																			-	HMMPfam_Gasdermin		0.493	GSDMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSDMC	protein_coding	OTTHUMT00000380586.1	G			130857583	-1	no_errors	NM_031415	genbank	human	validated	54_36p	silent	SNP	0.000	T
HTATSF1	27336	genome.wustl.edu	37	X	135593897	135593897	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chrX:135593897G>C	ENST00000218364.4	+	9	2167	c.1993G>C	c.(1993-1995)Gaa>Caa	p.E665Q	HTATSF1_ENST00000535601.1_Missense_Mutation_p.E665Q	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	665	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					AAAGGCGGAAGAAGGTGATGC	0.398																																																0			X											171.0	152.0	159.0					X																	135593897		2203	4300	6503	135421563	SO:0001583	missense	27336			U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"""RNA binding motif (RRM) containing"""	5276	protein-coding gene	gene with protein product		300346	"""HIV TAT specific factor 1"""			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.1993G>C	X.37:g.135593897G>C	ENSP00000218364:p.Glu665Gln		135421563	D3DWG9|Q59G06|Q99730	Missense_Mutation	SNP	superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1	p.E665Q	ENST00000218364.4	37	c.1993	CCDS14657.1	X	.	.	.	.	.	.	.	.	.	.	G	2.549	-0.304492	0.05495	.	.	ENSG00000102241	ENST00000535601;ENST00000218364	T;T	0.04119	3.7;3.7	3.61	3.61	0.41365	.	0.561204	0.14613	N	0.308905	T	0.02533	0.0077	N	0.08118	0	0.09310	N	1	P	0.38395	0.629	B	0.34991	0.193	T	0.40813	-0.9543	10	0.62326	D	0.03	-0.9028	6.0973	0.20027	0.1366:0.0:0.8634:0.0	.	665	O43719	HTSF1_HUMAN	Q	665	ENSP00000442699:E665Q;ENSP00000218364:E665Q	ENSP00000218364:E665Q	E	+	1	0	HTATSF1	135421563	0.187000	0.23238	0.042000	0.18584	0.051000	0.14879	1.583000	0.36579	2.059000	0.61396	0.523000	0.50628	GAA	-	NULL		0.398	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTATSF1	protein_coding	OTTHUMT00000058497.1	G	NM_014500		135421563	+1	no_errors	NM_014500	genbank	human	provisional	54_36p	missense	SNP	0.341	C
PCDHGA10	56106	genome.wustl.edu	37	5	140794665	140794665	+	Silent	SNP	G	G	T	rs578221269	byFrequency	TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr5:140794665G>T	ENST00000398610.2	+	1	1923	c.1923G>T	c.(1921-1923)gcG>gcT	p.A641A	PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB7_ENST00000398594.2_5'Flank|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	641	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGAGACGCGCTCAAGCAAA	0.697													g|||	2	0.000399361	0.0015	0.0	5008	,	,		15772	0.0		0.0	False		,,,				2504	0.0															0			5											51.0	61.0	57.0					5																	140794665		2202	4297	6499	140774849	SO:0001819	synonymous_variant	56106				CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.1923G>T	5.37:g.140794665G>T			140774849	Q9Y5E0	Silent	SNP	superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin	p.A641	ENST00000398610.2	37	c.1923	CCDS47292.1	5																																																																																			-	superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112		0.697	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA10	protein_coding	OTTHUMT00000374747.1	G	NM_018913		140774849	+1	no_errors	NM_018913	genbank	human	reviewed	54_36p	silent	SNP	0.398	T
CLEC5A	23601	genome.wustl.edu	37	7	141643759	141643759	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr7:141643759G>T	ENST00000546910.1	-	4	341	c.145C>A	c.(145-147)Cag>Aag	p.Q49K	CLEC5A_ENST00000438351.1_Intron|CLEC5A_ENST00000470595.1_Intron|CLEC5A_ENST00000439991.1_Intron|CLEC5A_ENST00000551012.2_Intron	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN	C-type lectin domain family 5, member A	49					cellular defense response (GO:0006968)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myeloid cell apoptotic process (GO:0033033)|osteoblast development (GO:0002076)|positive regulation of cytokine secretion (GO:0050715)|response to virus (GO:0009615)|signal transduction (GO:0007165)|viral process (GO:0016032)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|virus receptor activity (GO:0001618)			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					CCAAAAATCTGTGAGACTAAA	0.428																																					GBM(154;1592 2613 3360 42983)											0			7											206.0	184.0	191.0					7																	141643759		2203	4300	6503	141290228	SO:0001583	missense	23601				CCDS5870.1, CCDS75670.1	7q34	2012-10-03	2005-02-09	2005-02-09	ENSG00000258227	ENSG00000258227		"""C-type lectin domain containing"""	2054	protein-coding gene	gene with protein product		604987	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 5"""	CLECSF5		10449773	Standard	NM_013252		Approved	MDL-1	uc003vwv.1	Q9NY25	OTTHUMG00000157173	ENST00000546910.1:c.145C>A	7.37:g.141643759G>T	ENSP00000449999:p.Gln49Lys		141290228	Q52M11|Q9UKQ0	Missense_Mutation	SNP	superfamily_C-type lectin-like,HMMSmart_SM00034,HMMPfam_Lectin_C	p.Q49K	ENST00000546910.1	37	c.145	CCDS5870.1	7	.	.	.	.	.	.	.	.	.	.	G	1.505	-0.550963	0.03996	.	.	ENSG00000258227	ENST00000546910	T	0.01947	4.54	4.35	0.0841	0.14436	.	0.469632	0.18090	N	0.152032	T	0.01558	0.0050	L	0.32530	0.975	0.28108	N	0.931122	B;B	0.16396	0.017;0.01	B;B	0.18561	0.022;0.01	T	0.48747	-0.9008	10	0.05351	T	0.99	1.8559	7.0371	0.24998	0.0:0.3135:0.3677:0.3188	.	49;49	Q9NY25-2;Q9NY25	.;CLC5A_HUMAN	K	49	ENSP00000449999:Q49K	ENSP00000265306:Q49K	Q	-	1	0	CLEC5A	141290228	0.004000	0.15560	0.196000	0.23383	0.059000	0.15707	0.071000	0.14594	0.010000	0.14839	0.655000	0.94253	CAG	-	NULL		0.428	CLEC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC5A	protein_coding	OTTHUMT00000347756.1	G	NM_013252		141290228	-1	no_errors	NM_013252	genbank	human	reviewed	54_36p	missense	SNP	0.154	T
NOTCH2NL	388677	genome.wustl.edu	37	1	145281696	145281696	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr1:145281696G>A	ENST00000369340.3	+	5	1070	c.626G>A	c.(625-627)tGc>tAc	p.C209Y	RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.C209Y|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.C209Y|NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.C209Y			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	209	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						GAGTGCAACTGCCTTCCAGGT	0.547																																																0			1											85.0	86.0	86.0					1																	145281696		2202	4297	6499	143993053	SO:0001583	missense	388677				CCDS72880.1	1q21.2	2010-06-24	2010-06-24		ENSG00000213240	ENSG00000213240			31862	protein-coding gene	gene with protein product			"""Notch homolog 2 (Drosophila) N-terminal like"""			14673143	Standard	NM_203458		Approved	N2N	uc001emn.4	Q7Z3S9	OTTHUMG00000013754	ENST00000369340.3:c.626G>A	1.37:g.145281696G>A	ENSP00000358346:p.Cys209Tyr		143993053	Q5BKT8|Q5VTG9|Q5XG84|Q6P192|Q8NC23|Q8WUQ9|Q96FY1	Missense_Mutation	SNP	PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_SM00179,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_CA,HMMPfam_EGF_CA,PatternScan_ASX_HYDROXYL	p.C209Y	ENST00000369340.3	37	c.626	CCDS909.1	1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.213003	0.58452	.	.	ENSG00000213240	ENST00000362074;ENST00000344859;ENST00000369340	T;T;T	0.76060	-0.99;-0.99;-0.99	2.87	2.87	0.33458	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.89424	0.6711	H	0.98738	4.315	0.38208	D	0.940387	D;D	0.89917	0.999;1.0	D;D	0.87578	0.996;0.998	D	0.92042	0.5641	9	0.87932	D	0	.	11.5361	0.50639	0.0:0.0:1.0:0.0	.	209;209	Q7Z3S9-2;Q7Z3S9	.;NT2NL_HUMAN	Y	209	ENSP00000354929:C209Y;ENSP00000344557:C209Y;ENSP00000358346:C209Y	ENSP00000344557:C209Y	C	+	2	0	NOTCH2NL	143993053	1.000000	0.71417	0.996000	0.52242	0.582000	0.36321	9.576000	0.98192	1.601000	0.50113	0.400000	0.26472	TGC	-	superfamily_EGF/Laminin,HMMSmart_SM00181		0.547	NOTCH2NL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NOTCH2NL	protein_coding	OTTHUMT00000038546.1	G	NM_203458		143993053	+1	no_errors	NM_203458	genbank	human	validated	54_36p	missense	SNP	1.000	A
HLTF	6596	genome.wustl.edu	37	3	148802626	148802626	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr3:148802626T>C	ENST00000310053.5	-	2	264	c.71A>G	c.(70-72)aAt>aGt	p.N24S	HLTF_ENST00000465259.1_Missense_Mutation_p.N24S|HLTF-AS1_ENST00000492461.1_RNA|HLTF_ENST00000481663.1_5'UTR|HLTF_ENST00000494055.1_Missense_Mutation_p.N24S|HLTF_ENST00000392912.2_Missense_Mutation_p.N24S	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	24					chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.N24S(1)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GCGTGGAAAATTTCCATGAAC	0.353																																																1	Substitution - Missense(1)	ovary(1)	3											93.0	95.0	94.0					3																	148802626		2203	4300	6503	150285316	SO:0001583	missense	6596			L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"""RING-type (C3HC4) zinc fingers"""	11099	protein-coding gene	gene with protein product		603257	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"""	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.71A>G	3.37:g.148802626T>C	ENSP00000308944:p.Asn24Ser		150285316	D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Missense_Mutation	SNP	HMMPfam_HIRAN,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_SNF2_N,superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMSmart_SM00490,HMMPfam_Helicase_C	p.N24S	ENST00000310053.5	37	c.71	CCDS33875.1	3	.	.	.	.	.	.	.	.	.	.	T	11.51	1.661127	0.29515	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055;ENST00000416117;ENST00000392913	D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47	4.79	-0.522	0.11928	.	.	.	.	.	T	0.78227	0.4250	L	0.29908	0.895	0.28050	N	0.933397	B;B;B	0.28055	0.199;0.199;0.199	B;B;B	0.23852	0.049;0.049;0.049	T	0.65302	-0.6201	9	0.30854	T	0.27	-1.1469	5.0148	0.14330	0.0:0.172:0.2951:0.5329	.	24;24;24	Q59GQ7;A8K5B6;Q14527	.;.;HLTF_HUMAN	S	24;24;24;24;21;21	ENSP00000420745:N24S;ENSP00000308944:N24S;ENSP00000376644:N24S;ENSP00000420429:N24S	ENSP00000308944:N24S	N	-	2	0	HLTF	150285316	0.805000	0.28982	0.994000	0.49952	0.572000	0.35998	-0.310000	0.08135	0.315000	0.23110	-0.435000	0.05868	AAT	-	NULL		0.353	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	HLTF	protein_coding	OTTHUMT00000356064.1	T			150285316	-1	no_errors	NM_003071	genbank	human	reviewed	54_36p	missense	SNP	0.952	C
FLG2	388698	genome.wustl.edu	37	1	152323318	152323318	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr1:152323318G>T	ENST00000388718.5	-	3	7016	c.6944C>A	c.(6943-6945)tCc>tAc	p.S2315Y	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2315					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCTGTGTGGATTGTCCATA	0.463																																																0			1											305.0	278.0	287.0					1																	152323318		2203	4300	6503	150589942	SO:0001583	missense	388698			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.6944C>A	1.37:g.152323318G>T	ENSP00000373370:p.Ser2315Tyr		150589942	Q9H4U1	Missense_Mutation	SNP	superfamily_SSF47473,HMMPfam_S_100,HMMPfam_efhand,PatternScan_S100_CABP,PatternScan_EF_HAND_1,HMMPfam_SVS_QK,HMMPfam_Filaggrin	p.S2315Y	ENST00000388718.5	37	c.6944	CCDS30861.1	1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.746196	0.30955	.	.	ENSG00000143520	ENST00000388718	T	0.03801	3.8	3.3	1.22	0.21188	.	.	.	.	.	T	0.07143	0.0181	M	0.65975	2.015	0.09310	N	1	D	0.61080	0.989	D	0.69142	0.962	T	0.16394	-1.0404	9	0.59425	D	0.04	2.3647	7.6637	0.28417	0.0:0.0:0.54:0.46	.	2315	Q5D862	FILA2_HUMAN	Y	2315	ENSP00000373370:S2315Y	ENSP00000373370:S2315Y	S	-	2	0	FLG2	150589942	0.110000	0.22057	0.000000	0.03702	0.001000	0.01503	0.764000	0.26532	0.348000	0.23949	-0.302000	0.09304	TCC	-	NULL		0.463	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG2	protein_coding	OTTHUMT00000034018.5	G	NM_001014342		150589942	-1	no_errors	NM_001014342	genbank	human	provisional	54_36p	missense	SNP	0.009	T
FLG2	388698	genome.wustl.edu	37	1	152325724	152325724	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr1:152325724C>T	ENST00000388718.5	-	3	4610	c.4538G>A	c.(4537-4539)gGc>gAc	p.G1513D	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1513					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGTGCGAGCCCCCTGAGTG	0.493																																																0			1											328.0	316.0	320.0					1																	152325724		2203	4300	6503	150592348	SO:0001583	missense	388698			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.4538G>A	1.37:g.152325724C>T	ENSP00000373370:p.Gly1513Asp		150592348	Q9H4U1	Missense_Mutation	SNP	PatternScan_S100_CABP,HMMPfam_Filaggrin,HMMPfam_S_100,PatternScan_EF_HAND_1,HMMPfam_efhand,HMMPfam_SVS_QK,superfamily_SSF47473	p.G1513D	ENST00000388718.5	37	c.4538	CCDS30861.1	1	.	.	.	.	.	.	.	.	.	.	c	2.661	-0.279656	0.05642	.	.	ENSG00000143520	ENST00000388718	T	0.01665	4.7	4.54	-9.08	0.00720	.	.	.	.	.	T	0.00210	0.0006	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46582	-0.9181	9	0.12103	T	0.63	5.236	0.5468	0.00655	0.2993:0.2705:0.1388:0.2914	.	1513	Q5D862	FILA2_HUMAN	D	1513	ENSP00000373370:G1513D	ENSP00000373370:G1513D	G	-	2	0	FLG2	150592348	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-4.848000	0.00178	-4.682000	0.00036	-2.317000	0.00253	GGC	-	NULL		0.493	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG2	protein_coding	OTTHUMT00000034018.5	C	NM_001014342		150592348	-1	no_errors	NM_001014342	genbank	human	provisional	54_36p	missense	SNP	0.000	T
SMC4	10051	genome.wustl.edu	37	3	160120603	160120603	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr3:160120603A>T	ENST00000357388.3	+	4	909	c.458A>T	c.(457-459)aAg>aTg	p.K153M	SMC4_ENST00000462787.1_Missense_Mutation_p.K153M|MIR16-2_ENST00000362117.1_RNA|SMC4_ENST00000469762.1_Missense_Mutation_p.K128M|SMC4_ENST00000344722.5_Missense_Mutation_p.K153M|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000470240.1_3'UTR|MIR15B_ENST00000385045.1_RNA|SMC4_ENST00000360111.2_Missense_Mutation_p.K153M	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	153					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GATGAACACAAGGACATTCAG	0.308																																																0			3											88.0	93.0	91.0					3																	160120603		2203	4300	6503	161603297	SO:0001583	missense	10051			AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.458A>T	3.37:g.160120603A>T	ENSP00000349961:p.Lys153Met		161603297	A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_SMC_N,superfamily_Prefoldin,superfamily_Smc hinge domain,HMMPfam_SMC_hinge	p.K153M	ENST00000357388.3	37	c.458	CCDS3189.1	3	.	.	.	.	.	.	.	.	.	.	A	17.94	3.510958	0.64522	.	.	ENSG00000113810	ENST00000497311;ENST00000357388;ENST00000465903;ENST00000485645;ENST00000360111;ENST00000392788;ENST00000472991;ENST00000467468;ENST00000469762;ENST00000489573;ENST00000462787;ENST00000490207;ENST00000485867;ENST00000344722	T;T;T;T;T;T;T;T;T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39	5.38	2.83	0.33086	RecF/RecN/SMC (1);	0.267618	0.41001	D	0.000979	T	0.73032	0.3535	M	0.63843	1.955	0.38907	D	0.957448	P;P;P	0.43477	0.654;0.602;0.808	P;P;P	0.56514	0.698;0.65;0.8	T	0.74768	-0.3553	10	0.72032	D	0.01	-11.2539	8.5531	0.33465	0.5668:0.3658:0.0674:0.0	.	153;128;153	Q9NTJ3-2;E9PD53;Q9NTJ3	.;.;SMC4_HUMAN	M	153;153;153;153;153;153;28;28;128;153;153;153;81;153	ENSP00000418820:K153M;ENSP00000349961:K153M;ENSP00000419247:K153M;ENSP00000420644:K153M;ENSP00000353225:K153M;ENSP00000417999:K28M;ENSP00000419360:K28M;ENSP00000417964:K128M;ENSP00000420121:K153M;ENSP00000420734:K153M;ENSP00000420817:K153M;ENSP00000417612:K81M;ENSP00000341382:K153M	ENSP00000341382:K153M	K	+	2	0	SMC4	161603297	0.998000	0.40836	1.000000	0.80357	0.992000	0.81027	1.445000	0.35079	0.842000	0.35045	0.402000	0.26972	AAG	-	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_SMC_N		0.308	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC4	protein_coding	OTTHUMT00000352862.1	A			161603297	+1	no_errors	NM_001002800	genbank	human	validated	54_36p	missense	SNP	1.000	T
SCN7A	6332	genome.wustl.edu	37	2	167322041	167322041	+	Splice_Site	SNP	T	T	A			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr2:167322041T>A	ENST00000409855.1	-	8	998	c.872A>T	c.(871-873)gAa>gTa	p.E291V		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	291					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	GTTTTCTGTTTCTGAAAAACA	0.353																																																0			2											29.0	27.0	27.0					2																	167322041		1811	4071	5882	167030287	SO:0001630	splice_region_variant	6332			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.872-1A>T	2.37:g.167322041T>A			167030287		Missense_Mutation	SNP	superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc	p.E291V	ENST00000409855.1	37	c.872	CCDS46442.1	2	.	.	.	.	.	.	.	.	.	.	T	16.79	3.219530	0.58560	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992;ENST00000441411	D;D;D	0.98264	-4.15;-4.21;-4.83	5.33	4.09	0.47781	Ion transport (1);	0.000000	0.56097	D	0.000024	D	0.97917	0.9315	L	0.53249	1.67	0.28629	N	0.907781	D	0.89917	1.0	D	0.87578	0.998	D	0.93797	0.7097	10	0.56958	D	0.05	.	5.8703	0.18799	0.1639:0.0:0.1705:0.6655	.	291	Q01118	SCN7A_HUMAN	V	291	ENSP00000386796:E291V;ENSP00000413699:E291V;ENSP00000403846:E291V	ENSP00000259060:E291V	E	-	2	0	SCN7A	167030287	0.003000	0.15002	1.000000	0.80357	0.798000	0.45092	1.437000	0.34991	2.146000	0.66826	0.477000	0.44152	GAA	-	superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans		0.353	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN7A	protein_coding	OTTHUMT00000333745.1	T		Missense_Mutation	167030287	-1	no_errors	NM_002976	genbank	human	validated	54_36p	missense	SNP	0.999	A
SLC7A14	57709	genome.wustl.edu	37	3	170198276	170198276	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr3:170198276G>T	ENST00000231706.5	-	7	2110	c.1795C>A	c.(1795-1797)Ctt>Att	p.L599I	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	599					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			ACAACCAGAAGGATGGCCCAC	0.537																																																0			3											81.0	77.0	78.0					3																	170198276		2203	4300	6503	171680970	SO:0001583	missense	57709			BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.1795C>A	3.37:g.170198276G>T	ENSP00000231706:p.Leu599Ile		171680970	B3KV33|Q9HCF9	Missense_Mutation	SNP	HMMPfam_AA_permease	p.L599I	ENST00000231706.5	37	c.1795	CCDS33892.1	3	.	.	.	.	.	.	.	.	.	.	G	13.51	2.260158	0.39995	.	.	ENSG00000013293	ENST00000231706	D	0.88664	-2.41	5.5	5.5	0.81552	.	0.119478	0.64402	D	0.000019	D	0.84160	0.5411	L	0.47716	1.5	0.58432	D	0.999996	P	0.38473	0.633	B	0.29862	0.108	T	0.82448	-0.0452	10	0.18710	T	0.47	.	19.3717	0.94490	0.0:0.0:1.0:0.0	.	599	Q8TBB6	S7A14_HUMAN	I	599	ENSP00000231706:L599I	ENSP00000231706:L599I	L	-	1	0	SLC7A14	171680970	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.981000	0.63819	2.569000	0.86673	0.655000	0.94253	CTT	-	NULL		0.537	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A14	protein_coding	OTTHUMT00000352598.2	G	NM_020949		171680970	-1	no_errors	NM_020949	genbank	human	validated	54_36p	missense	SNP	1.000	T
TP53	7157	genome.wustl.edu	37	17	7578197	7578197	+	Frame_Shift_Del	DEL	C	C	-			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr17:7578197delC	ENST00000269305.4	-	6	841	c.652delG	c.(652-654)gtgfs	p.V218fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.V218fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.V218fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.V218fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.V218fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Frame_Shift_Del_p.V218fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	218	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(11)|p.0?(8)|p.V218M(7)|p.V218del(5)|p.D208fs*1(1)|p.V216fs*28(1)|p.V218fs*26(1)|p.S215_V218>R(1)|p.T211fs*28(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.V218L(1)|p.S215fs*27(1)|p.V218_Y220delVPY(1)|p.S215_V218>M(1)|p.V216_Y220delVVVPY(1)|p.S215fs*29(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCATAGGGCACCACCACACTA	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	44	Unknown(11)|Deletion - In frame(9)|Whole gene deletion(8)|Substitution - Missense(8)|Deletion - Frameshift(6)|Complex - deletion inframe(2)	endometrium(6)|biliary_tract(5)|oesophagus(5)|peritoneum(4)|bone(4)|upper_aerodigestive_tract(3)|large_intestine(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|liver(2)|cervix(1)|stomach(1)|soft_tissue(1)|skin(1)|lung(1)|ovary(1)	17											118.0	106.0	110.0					17																	7578197		2203	4300	6503	7518922	SO:0001589	frameshift_variant	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.652delG	17.37:g.7578197delC	ENSP00000269305:p.Val218fs		7518922	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain	p.V218fs	ENST00000269305.4	37	c.652	CCDS11118.1	17																																																																																			(deletion:cds_exon[7518902,7519014])	HMMPfam_P53,superfamily_p53-like transcription factors		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546		7518922	-1	no_errors	NM_000546	genbank	human	reviewed	54_36p	frame_shift_del	DEL	1.000	-
SLC12A4	6560	genome.wustl.edu	37	16	67979014	67979032	+	Frame_Shift_Del	DEL	TGGGTGGGCCAGGCATGTT	TGGGTGGGCCAGGCATGTT	-			TCGA-29-1696-01A-01W-0633-09	TCGA-29-1696-10A-01W-0633-09	TGGGTGGGCCAGGCATGTT	TGGGTGGGCCAGGCATGTT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	52323a79-e1f0-4c1e-b6bc-b40927d1e268	c33b4324-c07b-4c48-bb1a-ce6c286280f5	g.chr16:67979014_67979032delTGGGTGGGCCAGGCATGTT	ENST00000316341.3	-	23	3264_3282	c.3124_3142delAACATGCCTGGCCCACCCA	c.(3124-3144)aacatgcctggcccacccaggfs	p.NMPGPPR1042fs	LCAT_ENST00000264005.5_5'Flank|SLC12A4_ENST00000572037.1_Frame_Shift_Del_p.NMPGPPR994fs|SLC12A4_ENST00000541864.2_Frame_Shift_Del_p.NMPGPPR1011fs|SLC12A4_ENST00000537830.2_Frame_Shift_Del_p.NMPGPPR1036fs|SLC12A4_ENST00000576616.1_Frame_Shift_Del_p.NMPGPPR1042fs|CTC-479C5.17_ENST00000590594.1_lincRNA|SLC12A4_ENST00000422611.2_Frame_Shift_Del_p.NMPGPPR1044fs|SLC12A4_ENST00000338335.3_3'UTR	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	1042					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCACTGTTCCTGGGTGGGCCAGGCATGTTTAGGAGAACC	0.589																																																0			16																																								66536533	SO:0001589	frameshift_variant	6560				CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"""Solute carriers"""	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.3124_3142delAACATGCCTGGCCCACCCA	16.37:g.67979014_67979032delTGGGTGGGCCAGGCATGTT	ENSP00000318557:p.Asn1042fs		66536515	B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Frame_Shift_Del	DEL	HMMPfam_AA_permease,HMMPfam_KCl_Cotrans_1	p.N1042fs	ENST00000316341.3	37	c.3142_3124	CCDS10855.1	16																																																																																			(deletion:cds_exon[66536491,66536624])	NULL		0.589	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC12A4	protein_coding	OTTHUMT00000268864.4	TGGGTGGGCCAGGCATGTT	NM_005072		66536533	-1	no_errors	NM_005072	genbank	human	validated	54_36p	frame_shift_del	DEL	0.995:0.989:1.000:1.000:0.958:1.000:1.000:0.996:1.000:1.000:0.976:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000	-
