#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	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_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	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_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_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
ACTL8	81569	broad.mit.edu	37	1	18149715	18149715	+	Missense_Mutation	SNP	G	G	A	rs201038955		TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr1:18149715G>A	ENST00000375406.1	+	2	428	c.212G>A	c.(211-213)cGc>cAc	p.R71H		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	71					epithelial cell differentiation (GO:0030855)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		GAGCGGGGCCGCATCCTCAAC	0.597																																						uc001bat.2																			0				ovary(4)	4						c.(211-213)CGC>CAC		actin-like 8							108.0	102.0	104.0					1																	18149715		2203	4300	6503	SO:0001583	missense	81569					cytoplasm|cytoskeleton		g.chr1:18149715G>A	AK057339	CCDS183.1	1p36.2-p35	2009-03-25			ENSG00000117148	ENSG00000117148			24018	protein-coding gene	gene with protein product	"""cancer/testis antigen 57"""						Standard	NM_030812		Approved	CT57	uc001bat.3	Q9H568	OTTHUMG00000002512	ENST00000375406.1:c.212G>A	1.37:g.18149715G>A	ENSP00000364555:p.Arg71His						p.R71H	NM_030812	NP_110439	Q9H568	ACTL8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	2	428	+		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	71					Q13104|Q96M75	Missense_Mutation	SNP	ENST00000375406.1	37	c.212G>A	CCDS183.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.926566	0.34002	.	.	ENSG00000117148	ENST00000375406	D	0.94330	-3.4	5.4	1.53	0.23141	.	0.000000	0.40302	N	0.001129	D	0.83353	0.5236	N	0.26042	0.785	0.26804	N	0.969141	P	0.35745	0.518	B	0.27076	0.076	T	0.77734	-0.2477	10	0.87932	D	0	-51.1152	3.9739	0.09465	0.1931:0.0:0.4732:0.3338	.	71	Q9H568	ACTL8_HUMAN	H	71	ENSP00000364555:R71H	ENSP00000364555:R71H	R	+	2	0	ACTL8	18022302	1.000000	0.71417	0.801000	0.32222	0.164000	0.22412	3.576000	0.53878	1.276000	0.44395	0.655000	0.94253	CGC		0.597	ACTL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007143.1	NM_030812	
SPOCD1	90853	broad.mit.edu	37	1	32280067	32280067	+	Missense_Mutation	SNP	C	C	T	rs555926182		TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr1:32280067C>T	ENST00000360482.2	-	2	997	c.868G>A	c.(868-870)Gct>Act	p.A290T	SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000533231.1_Missense_Mutation_p.A290T|SPOCD1_ENST00000373648.2_Missense_Mutation_p.A290T	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	290					negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TCCCCTGTAGCGGGCAAATAT	0.632													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18224	0.0		0.0	False		,,,				2504	0.0					uc001bts.1																			0				ovary(5)|breast(1)	6						c.(868-870)GCT>ACT		SPOC domain containing 1							17.0	20.0	19.0					1																	32280067		2199	4288	6487	SO:0001583	missense	90853				transcription, DNA-dependent			g.chr1:32280067C>T	AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 146"""					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.868G>A	1.37:g.32280067C>T	ENSP00000353670:p.Ala290Thr					SPOCD1_uc001btu.2_Missense_Mutation_p.A290T|SPOCD1_uc001btv.2_Intron	p.A290T	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN		STAD - Stomach adenocarcinoma(196;0.18)	2	926	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)	290					Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Missense_Mutation	SNP	ENST00000360482.2	37	c.868G>A	CCDS347.1	.	.	.	.	.	.	.	.	.	.	C	0.054	-1.241289	0.01493	.	.	ENSG00000134668	ENST00000360482;ENST00000373648;ENST00000533231	T;T;T	0.33438	1.84;1.41;1.84	3.88	-7.76	0.01232	.	.	.	.	.	T	0.07728	0.0194	N	0.03608	-0.345	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.04013	0.001;0.001	T	0.20907	-1.0261	9	0.07175	T	0.84	0.1298	1.6672	0.02804	0.202:0.3041:0.1011:0.3928	.	290;290	Q6ZMY3-2;Q6ZMY3	.;SPOC1_HUMAN	T	290	ENSP00000353670:A290T;ENSP00000362752:A290T;ENSP00000435851:A290T	ENSP00000353670:A290T	A	-	1	0	SPOCD1	32052654	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.200000	0.00561	-2.634000	0.00433	-0.290000	0.09829	GCT		0.632	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	NM_144569	
PTPRF	5792	broad.mit.edu	37	1	44056912	44056912	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr1:44056912C>T	ENST00000359947.4	+	9	1559	c.1219C>T	c.(1219-1221)Cgc>Tgc	p.R407C	PTPRF_ENST00000372413.3_Missense_Mutation_p.R407C|PTPRF_ENST00000372414.3_Missense_Mutation_p.R407C|PTPRF_ENST00000438120.1_Missense_Mutation_p.R407C|PTPRF_ENST00000422171.2_5'Flank	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	407	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGTGCGGGCACGCACGGGAGA	0.701																																						uc001cjr.2																			0				ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10						c.(1219-1221)CGC>TGC		protein tyrosine phosphatase, receptor type, F							12.0	13.0	13.0					1																	44056912		2193	4277	6470	SO:0001583	missense	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44056912C>T	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.1219C>T	1.37:g.44056912C>T	ENSP00000353030:p.Arg407Cys					PTPRF_uc001cjs.2_Missense_Mutation_p.R407C|PTPRF_uc001cju.2_Translation_Start_Site|PTPRF_uc009vwt.2_Translation_Start_Site|PTPRF_uc001cjv.2_Translation_Start_Site	p.R407C	NM_002840	NP_002831	P10586	PTPRF_HUMAN			9	1559	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	407			Extracellular (Potential).|Fibronectin type-III 1.		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	c.1219C>T	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.83|18.83	3.706693|3.706693	0.68615|0.68615	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413|ENST00000412568	T;T;T;T|.	0.57107|.	0.42;0.42;0.42;0.42|.	5.48|5.48	5.48|5.48	0.80851|0.80851	Fibronectin, type III (2);Immunoglobulin-like fold (1);|.	0.000000|.	0.34555|.	N|.	0.003863|.	T|T	0.78020|0.78020	0.4218|0.4218	M|M	0.84082|0.84082	2.675|2.675	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.81914|.	0.995;0.912|.	T|T	0.79259|0.79259	-0.1877|-0.1877	10|5	0.87932|.	D|.	0|.	.|.	15.1184|15.1184	0.72423|0.72423	0.2077:0.7923:0.0:0.0|0.2077:0.7923:0.0:0.0	.|.	407;407|.	P10586-2;P10586|.	.;PTPRF_HUMAN|.	C|M	407|74	ENSP00000353030:R407C;ENSP00000398822:R407C;ENSP00000361491:R407C;ENSP00000361490:R407C|.	ENSP00000353030:R407C|.	R|T	+|+	1|2	0|0	PTPRF|PTPRF	43829499|43829499	0.993000|0.993000	0.37304|0.37304	0.959000|0.959000	0.39883|0.39883	0.957000|0.957000	0.61999|0.61999	3.077000|3.077000	0.50089|0.50089	2.758000|2.758000	0.94735|0.94735	0.563000|0.563000	0.77884|0.77884	CGC|ACG		0.701	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1		
CLCA1	1179	broad.mit.edu	37	1	86951220	86951220	+	Frame_Shift_Del	DEL	C	C	-			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr1:86951220delC	ENST00000234701.3	+	7	1281	c.930delC	c.(928-930)gtcfs	p.V310fs	CLCA1_ENST00000394711.1_Frame_Shift_Del_p.V310fs			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	310	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		TGTGTTTAGTCCTTGACAAAT	0.448																																						uc001dlt.2																			0				ovary(1)	1						c.(928-930)GTCfs		chloride channel accessory 1 precursor							200.0	169.0	179.0					1																	86951220		2203	4300	6503	SO:0001589	frameshift_variant	1179				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity	g.chr1:86951220delC		CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"""chloride channel, calcium activated, family member 1"", ""chloride channel regulator 1"""			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.930delC	1.37:g.86951220delC	ENSP00000234701:p.Val310fs					CLCA1_uc001dls.1_Frame_Shift_Del_p.V249fs	p.V310fs	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN		all cancers(265;0.0249)|Epithelial(280;0.0476)	6	1059	+		Lung NSC(277;0.239)	310			VWFA.		B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Frame_Shift_Del	DEL	ENST00000234701.3	37	c.930delC	CCDS709.1																																																																																				0.448	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	NM_001285	
SLAMF6	114836	broad.mit.edu	37	1	160465979	160465979	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr1:160465979C>T	ENST00000368057.3	-	2	314	c.254G>A	c.(253-255)cGa>cAa	p.R85Q	SLAMF6_ENST00000368059.3_Missense_Mutation_p.R85Q|SLAMF6_ENST00000368055.1_Intron			Q96DU3	SLAF6_HUMAN	SLAM family member 6	85	Ig-like V-type.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			GAAGTTCAGTCGCTTTCCCTG	0.463																																						uc001fwe.1																			0				ovary(1)|skin(1)	2						c.(253-255)CGA>CAA		activating NK receptor precursor							233.0	198.0	210.0					1																	160465979		2203	4300	6503	SO:0001583	missense	114836					integral to membrane|plasma membrane	receptor activity	g.chr1:160465979C>T	AL832854	CCDS1205.1, CCDS53393.1, CCDS53394.1	1q23.1	2013-01-29			ENSG00000162739	ENSG00000162739		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21392	protein-coding gene	gene with protein product		606446				11489943	Standard	NM_052931		Approved	KALI, NTBA, KALIb, Ly108, SF2000, NTB-A, CD352	uc001fwe.2	Q96DU3	OTTHUMG00000022729	ENST00000368057.3:c.254G>A	1.37:g.160465979C>T	ENSP00000357036:p.Arg85Gln					SLAMF6_uc001fwd.1_Missense_Mutation_p.R85Q|SLAMF6_uc010pjh.1_Missense_Mutation_p.R36Q|SLAMF6_uc010pji.1_Intron|SLAMF6_uc010pjj.1_Intron|SLAMF6_uc009wtm.1_Missense_Mutation_p.R36Q	p.R85Q	NM_052931	NP_443163	Q96DU3	SLAF6_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0923)		2	314	-	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		85			Extracellular (Potential).		A6NMW2|B2R8X8|Q14CF0|Q5TAS4|Q5TAS6|Q5TAT3|Q96DV0	Missense_Mutation	SNP	ENST00000368057.3	37	c.254G>A	CCDS53394.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.783448	0.49891	.	.	ENSG00000162739	ENST00000368059;ENST00000368057	T;T	0.72282	-0.64;-0.64	4.95	0.995	0.19838	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.249361	0.38058	N	0.001828	T	0.46541	0.1398	M	0.71871	2.18	0.09310	N	1	D;D;D;D	0.67145	0.992;0.996;0.996;0.996	B;B;B;B	0.42625	0.231;0.273;0.393;0.393	T	0.48080	-0.9066	10	0.54805	T	0.06	-0.1302	4.284	0.10846	0.0:0.5536:0.1682:0.2782	.	36;85;85;85	B4E1U5;Q96DU3-2;Q96DU3;B2R8X8	.;.;SLAF6_HUMAN;.	Q	85	ENSP00000357038:R85Q;ENSP00000357036:R85Q	ENSP00000357036:R85Q	R	-	2	0	SLAMF6	158732603	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.069000	0.14552	0.033000	0.15463	0.655000	0.94253	CGA		0.463	SLAMF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059010.1	NM_052931	
C1ORF220	400798	broad.mit.edu	37	1	178514674	178514674	+	Silent	SNP	G	G	A			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr1:178514674G>A	ENST00000367636.4	+	2	398	c.60G>A	c.(58-60)agG>agA	p.R20R	C1orf220_ENST00000319387.2_3'UTR|C1orf220_ENST00000521244.1_3'UTR																							tgagattgagggaggctgaaa	0.498																																						uc001glx.1																			0					0						c.(58-60)AGG>AGA		hypothetical protein LOC400798							63.0	56.0	58.0					1																	178514674		2203	4300	6503	SO:0001819	synonymous_variant	400798							g.chr1:178514674G>A																												ENST00000367636.4:c.60G>A	1.37:g.178514674G>A						C1orf49_uc001glv.1_Intron	p.R20R	NM_207467	NP_997350					2	417	+									Silent	SNP	ENST00000367636.4	37	c.60G>A																																																																																					0.498	C1ORF220-201	NOVEL	basic|appris_principal	protein_coding	protein_coding			
NPHS2	7827	broad.mit.edu	37	1	179520378	179520378	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr1:179520378A>G	ENST00000367615.4	-	8	1150	c.1082T>C	c.(1081-1083)cTc>cCc	p.L361P	RP11-545A16.1_ENST00000569644.1_RNA|AXDND1_ENST00000367618.3_Intron|NPHS2_ENST00000367616.4_Missense_Mutation_p.L293P	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	361					actin cytoskeleton reorganization (GO:0031532)|excretion (GO:0007588)|metanephric glomerular visceral epithelial cell development (GO:0072249)	cell-cell junction (GO:0005911)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)				NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						TGGGAAGGGGAGGCTTCCCTG	0.473																																						uc001gmq.3																			0					0	GRCh37	CM055460	NPHS2	M		c.(1081-1083)CTC>CCC		podocin							87.0	86.0	86.0					1																	179520378		2203	4300	6503	SO:0001583	missense	7827				excretion	integral to plasma membrane	protein binding	g.chr1:179520378A>G	AJ279254	CCDS1331.1, CCDS72988.1	1q25-q31	2014-06-27			ENSG00000116218	ENSG00000116218			13394	protein-coding gene	gene with protein product		604766				8589695, 10742096	Standard	XM_005245483		Approved	SRN1, PDCN	uc001gmq.4	Q9NP85	OTTHUMG00000035252	ENST00000367615.4:c.1082T>C	1.37:g.179520378A>G	ENSP00000356587:p.Leu361Pro					C1orf125_uc009wxg.2_Intron|C1orf125_uc001gmo.2_Intron|C1orf125_uc001gmp.2_Intron|C1orf125_uc009wxh.2_Intron|NPHS2_uc009wxi.2_Missense_Mutation_p.L293P|C1orf125_uc001gmr.2_RNA	p.L361P	NM_014625	NP_055440	Q9NP85	PODO_HUMAN			8	1167	-			361			Cytoplasmic (Potential).		B1AM32|B1AM33|Q8N6Q5	Missense_Mutation	SNP	ENST00000367615.4	37	c.1082T>C	CCDS1331.1	.	.	.	.	.	.	.	.	.	.	A	16.35	3.099569	0.56183	.	.	ENSG00000116218	ENST00000367615;ENST00000367616	D;D	0.99667	-6.34;-6.34	5.34	5.34	0.76211	.	0.482902	0.23631	N	0.046128	D	0.97607	0.9216	N	0.19112	0.55	0.47276	D	0.999378	P;B	0.41848	0.763;0.0	B;B	0.41088	0.347;0.0	D	0.96399	0.9295	10	0.42905	T	0.14	-2.6	6.6636	0.23029	0.6927:0.1567:0.0:0.1506	.	293;361	Q9NP85-2;Q9NP85	.;PODO_HUMAN	P	361;293	ENSP00000356587:L361P;ENSP00000356588:L293P	ENSP00000356587:L361P	L	-	2	0	NPHS2	177787001	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.085000	0.41634	2.143000	0.66587	0.533000	0.62120	CTC		0.473	NPHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085283.1		
CENPF	1063	broad.mit.edu	37	1	214816089	214816089	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr1:214816089G>A	ENST00000366955.3	+	12	4576	c.4408G>A	c.(4408-4410)Gag>Aag	p.E1470K		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1566	2 X 96 AA approximate tandem repeats.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.E1470Q(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GGGCTTGGAGGAGGGGCTCGT	0.478																																					Colon(80;575 1284 11000 14801 43496)	uc001hkm.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13						c.(4408-4410)GAG>AAG		centromere protein F							70.0	69.0	70.0					1																	214816089		2203	4300	6503	SO:0001583	missense	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214816089G>A	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.4408G>A	1.37:g.214816089G>A	ENSP00000355922:p.Glu1470Lys						p.E1470K	NM_016343	NP_057427	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	12	4582	+			1566		Missing.	1-2.|2 X 96 AA approximate tandem repeats.		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	c.4408G>A	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	G	4.705	0.131048	0.08981	.	.	ENSG00000117724	ENST00000366955	T	0.33216	1.42	4.73	4.73	0.59995	.	0.704021	0.11656	N	0.542353	T	0.18676	0.0448	L	0.29908	0.895	0.09310	N	1	P	0.37864	0.61	B	0.34824	0.19	T	0.06144	-1.0843	10	0.07813	T	0.8	.	8.6306	0.33917	0.0:0.1518:0.6681:0.1801	.	1470	P49454	CENPF_HUMAN	K	1470	ENSP00000355922:E1470K	ENSP00000355922:E1470K	E	+	1	0	CENPF	212882712	0.014000	0.17966	0.059000	0.19551	0.022000	0.10575	0.585000	0.23879	2.334000	0.79466	0.655000	0.94253	GAG		0.478	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343	
EPRS	2058	broad.mit.edu	37	1	220154727	220154727	+	Missense_Mutation	SNP	T	T	C	rs372289785		TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr1:220154727T>C	ENST00000366923.3	-	24	3715	c.3446A>G	c.(3445-3447)aAt>aGt	p.N1149S		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1149	Proline--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	TACCACCACATTGCACCACTG	0.358																																						uc001hly.1																			0				ovary(1)|skin(1)	2						c.(3445-3447)AAT>AGT		glutamyl-prolyl tRNA synthetase	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	T	SER/ASN	0,4406		0,0,2203	157.0	137.0	144.0		3446	6.1	1.0	1		144	1,8599	1.2+/-3.3	0,1,4299	no	missense	EPRS	NM_004446.2	46	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	possibly-damaging	1149/1513	220154727	1,13005	2203	4300	6503	SO:0001583	missense	2058				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	g.chr1:220154727T>C	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.3446A>G	1.37:g.220154727T>C	ENSP00000355890:p.Asn1149Ser						p.N1149S	NM_004446	NP_004437	P07814	SYEP_HUMAN		GBM - Glioblastoma multiforme(131;0.0735)	24	3716	-			1149			Prolyl-tRNA synthetase.		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	c.3446A>G	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.317076	0.81469	0.0	1.16E-4	ENSG00000136628	ENST00000366923	T	0.66638	-0.22	6.07	6.07	0.98685	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.000000	0.85682	D	0.000000	T	0.69269	0.3092	N	0.25201	0.72	0.53005	D	0.999969	D	0.55605	0.972	D	0.64687	0.928	T	0.72272	-0.4342	10	0.59425	D	0.04	-39.4617	12.4026	0.55422	0.0:0.0667:0.0:0.9333	.	1149	P07814	SYEP_HUMAN	S	1149	ENSP00000355890:N1149S	ENSP00000355890:N1149S	N	-	2	0	EPRS	218221350	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	4.950000	0.63603	2.326000	0.78906	0.533000	0.62120	AAT		0.358	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446	
ARMC4	55130	broad.mit.edu	37	10	28229643	28229643	+	Missense_Mutation	SNP	G	G	T			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr10:28229643G>T	ENST00000305242.5	-	13	1927	c.1835C>A	c.(1834-1836)gCa>gAa	p.A612E	ARMC4_ENST00000537576.1_Missense_Mutation_p.A304E|ARMC4_ENST00000545014.1_Missense_Mutation_p.A137E	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	612					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CAGGGCCAGTGCCCCACAGCG	0.517																																						uc009xky.2																			0				ovary(4)|skin(2)	6						c.(1834-1836)GCA>GAA		armadillo repeat containing 4							87.0	83.0	84.0					10																	28229643		2203	4300	6503	SO:0001583	missense	55130						binding	g.chr10:28229643G>T	AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.1835C>A	10.37:g.28229643G>T	ENSP00000306410:p.Ala612Glu					ARMC4_uc010qds.1_Missense_Mutation_p.A137E|ARMC4_uc010qdt.1_Missense_Mutation_p.A304E|ARMC4_uc001itz.2_Missense_Mutation_p.A612E|ARMC4_uc010qdu.1_Missense_Mutation_p.A304E	p.A612E	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN			13	1933	-			612					A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	c.1835C>A	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.029292	0.75504	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000545014	T;T;T	0.68624	-0.34;-0.34;-0.34	4.83	4.83	0.62350	Armadillo-like helical (1);Armadillo-type fold (2);	0.096930	0.64402	D	0.000001	D	0.84800	0.5552	M	0.88570	2.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	D	0.88051	0.2787	10	0.72032	D	0.01	-8.973	18.2808	0.90097	0.0:0.0:1.0:0.0	.	137;612	B7Z7I1;Q5T2S8	.;ARMC4_HUMAN	E	304;612;137	ENSP00000443208:A304E;ENSP00000306410:A612E;ENSP00000441076:A137E	ENSP00000306410:A612E	A	-	2	0	ARMC4	28269649	1.000000	0.71417	0.940000	0.37924	0.261000	0.26267	9.436000	0.97532	2.384000	0.81235	0.655000	0.94253	GCA		0.517	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076	
PTEN	5728	broad.mit.edu	37	10	89685314	89685314	+	Splice_Site	SNP	T	T	A	rs398123318|rs121909226		TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr10:89685314T>A	ENST00000371953.3	+	3	1566	c.209T>A	c.(208-210)cTt>cAt	p.L70H		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	70	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		L -> P (in CWS1). {ECO:0000269|PubMed:9832031}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(6)|p.R55fs*1(5)|p.L70fs*7(2)|p.Y27fs*1(2)|p.L70P(1)|p.R55_L70>S(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ATATACAATCTGTAAGTATGT	0.279		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		55	Whole gene deletion(37)|Deletion - Frameshift(10)|Unknown(6)|Substitution - Missense(1)|Complex - deletion inframe(1)	p.?(4)|p.L70fs*7(4)|p.R55fs*1(4)|p.Y27_N212>Y(2)|p.Y27fs*1(2)|p.L70F(1)|p.L70P(1)|p.R55_L70>S(1)|p.F56fs*2(1)	prostate(16)|central_nervous_system(11)|skin(7)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|ovary(3)|endometrium(2)|urinary_tract(2)|soft_tissue(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	GRCh37	CS982332	PTEN	S	rs121909226	c.(208-210)CTT>CAT		phosphatase and tensin homolog							43.0	44.0	43.0					10																	89685314		2187	4276	6463	SO:0001630	splice_region_variant	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89685314T>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.209+1T>A	10.37:g.89685314T>A		HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.L70H	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	4	1240	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	70		L -> P (in CD).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.209T>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.515284	0.85389	.	.	ENSG00000171862	ENST00000371953	D	0.98987	-5.3	5.46	5.46	0.80206	Phosphatase tensin type (1);	0.000000	0.64402	D	0.000001	D	0.99588	0.9851	H	0.98089	4.145	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97670	1.0166	9	.	.	.	-5.8283	15.5246	0.75894	0.0:0.0:0.0:1.0	.	70	P60484	PTEN_HUMAN	H	70	ENSP00000361021:L70H	.	L	+	2	0	PTEN	89675294	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.448000	0.80631	2.072000	0.62099	0.533000	0.62120	CTT		0.279	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	Missense_Mutation
CDHR5	53841	broad.mit.edu	37	11	618758	618758	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr11:618758T>C	ENST00000358353.3	-	14	2123	c.1801A>G	c.(1801-1803)Aca>Gca	p.T601A	IRF7_ENST00000397562.3_5'Flank|CDHR5_ENST00000349570.7_Intron|IRF7_ENST00000397570.1_5'Flank|CDHR5_ENST00000397542.2_Missense_Mutation_p.T601A|IRF7_ENST00000397574.2_5'Flank|IRF7_ENST00000330243.5_5'Flank			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	601	4 X 31 AA approximate tandem repeats.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GTCTGTGCTGTGCCCCCACCG	0.667																																						uc001lqj.2																			0					0						c.(1801-1803)ACA>GCA		mucin and cadherin-like isoform 1							109.0	117.0	115.0					11																	618758		2202	4300	6502	SO:0001583	missense	53841				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:618758T>C	AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"""Cadherins / Cadherin-related"""	7521	protein-coding gene	gene with protein product		606839	"""mucin and cadherin-like"", ""mucin-like protocadherin"""	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.1801A>G	11.37:g.618758T>C	ENSP00000351118:p.Thr601Ala					IRF7_uc001lqh.2_5'Flank|IRF7_uc001lqi.2_5'Flank|IRF7_uc010qwh.1_5'Flank|CDHR5_uc001lqk.2_Intron|CDHR5_uc009ycc.2_Missense_Mutation_p.T435A|CDHR5_uc009ycd.2_Missense_Mutation_p.T595A|CDHR5_uc001lql.2_Missense_Mutation_p.T601A	p.T601A	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN			13	1906	-			601			4 X 31 AA approximate tandem repeats.|2.|Extracellular (Potential).		C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Missense_Mutation	SNP	ENST00000358353.3	37	c.1801A>G	CCDS7707.1	.	.	.	.	.	.	.	.	.	.	t	0.574	-0.839930	0.02692	.	.	ENSG00000099834	ENST00000397542;ENST00000358353	T;T	0.41065	1.01;1.01	2.7	0.299	0.15771	.	.	.	.	.	T	0.21267	0.0512	N	0.14661	0.345	0.09310	N	1	B;B	0.21606	0.058;0.058	B;B	0.17098	0.017;0.017	T	0.17868	-1.0355	9	0.44086	T	0.13	2.5958	3.0454	0.06152	0.6274:0.0:0.1421:0.2305	.	595;601	Q9HBB8-4;Q9HBB8	.;CDHR5_HUMAN	A	601	ENSP00000380676:T601A;ENSP00000351118:T601A	ENSP00000351118:T601A	T	-	1	0	CDHR5	608758	0.000000	0.05858	0.007000	0.13788	0.053000	0.15095	-1.006000	0.03671	0.266000	0.21894	-0.695000	0.03696	ACA		0.667	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	NM_021924	
CD3E	916	broad.mit.edu	37	11	118184559	118184559	+	Nonsense_Mutation	SNP	C	C	T	rs201840561		TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr11:118184559C>T	ENST00000361763.4	+	7	781	c.490C>T	c.(490-492)Cga>Tga	p.R164*	CD3E_ENST00000528600.1_Nonsense_Mutation_p.R158*	NM_000733.3	NP_000724.1	P07766	CD3E_HUMAN	CD3e molecule, epsilon (CD3-TCR complex)	164					apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of smoothened signaling pathway (GO:0045879)|negative thymic T cell selection (GO:0045060)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell anergy (GO:0002669)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)|regulation of immune response (GO:0050776)|response to nutrient (GO:0007584)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)|SH3 domain binding (GO:0017124)|T cell receptor binding (GO:0042608)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	Muromonab(DB00075)	GCCTGTGACACGAGGAGCGGG	0.597																																						uc001psq.3																			0				ovary(2)	2						c.(490-492)CGA>TGA		CD3E antigen, epsilon polypeptide precursor	Muromonab(DB00075)						58.0	53.0	55.0					11																	118184559		2200	4296	6496	SO:0001587	stop_gained	916				G-protein coupled receptor protein signaling pathway|signal complex assembly|T cell costimulation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	external side of plasma membrane|integral to plasma membrane	protein heterodimerization activity|protein kinase binding|receptor signaling complex scaffold activity|receptor signaling protein activity|SH3 domain binding|T cell receptor binding|transmembrane receptor activity	g.chr11:118184559C>T	X03884	CCDS31685.1	11q23	2014-09-17	2006-03-28		ENSG00000198851	ENSG00000198851		"""CD molecules"""	1674	protein-coding gene	gene with protein product		186830	"""CD3e antigen, epsilon polypeptide (TiT3 complex)"""				Standard	NM_000733		Approved		uc001psq.4	P07766	OTTHUMG00000166968	ENST00000361763.4:c.490C>T	11.37:g.118184559C>T	ENSP00000354566:p.Arg164*						p.R164*	NM_000733	NP_000724	P07766	CD3E_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	7	746	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	164			Cytoplasmic (Potential).		A8K997	Nonsense_Mutation	SNP	ENST00000361763.4	37	c.490C>T	CCDS31685.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.158649	0.38119	.	.	ENSG00000198851	ENST00000361763;ENST00000528600	.	.	.	4.97	1.85	0.25348	.	0.000000	0.51477	D	0.000098	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.3209	0.49421	0.4065:0.5935:0.0:0.0	.	.	.	.	X	164;158	.	ENSP00000354566:R164X	R	+	1	2	CD3E	117689769	0.613000	0.27009	0.034000	0.17996	0.435000	0.31806	0.845000	0.27668	0.182000	0.20032	0.491000	0.48974	CGA		0.597	CD3E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392120.1	NM_000733	
ABCC9	10060	broad.mit.edu	37	12	22065805	22065805	+	Splice_Site	DEL	C	C	-			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr12:22065805delC	ENST00000261201.4	-	6	1011		c.e6+1		ABCC9_ENST00000345162.2_Splice_Site|ABCC9_ENST00000261200.4_Splice_Site	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9						defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	CAGGAACTTACTCCAGTTGTG	0.353																																						uc001rfi.1																			0				ovary(4)|skin(2)	6						c.e6+1		ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						70.0	65.0	67.0					12																	22065805		2203	4300	6503	SO:0001630	splice_region_variant	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22065805delC	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.1011+1G>-	12.37:g.22065805delC						ABCC9_uc001rfh.2_Splice_Site_p.G337_splice|ABCC9_uc001rfj.1_Splice_Site_p.G337_splice	p.G337_splice	NM_005691	NP_005682	O60706	ABCC9_HUMAN			6	1031	-								O60707	Splice_Site	DEL	ENST00000261201.4	37	c.1011_splice	CCDS8694.1																																																																																				0.353	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691	Intron
WNT10B	7480	broad.mit.edu	37	12	49361974	49361974	+	Silent	SNP	G	G	T	rs187437079		TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr12:49361974G>T	ENST00000301061.4	-	4	814	c.466C>A	c.(466-468)Cgg>Agg	p.R156R	WNT10B_ENST00000403957.1_Intron|WNT10B_ENST00000407467.1_Silent_p.R156R	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN	wingless-type MMTV integration site family, member 10B	156					bone trabecula formation (GO:0060346)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to cAMP (GO:0071320)|cellular response to hydrostatic pressure (GO:0071464)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fungiform papilla development (GO:0061196)|G2/M transition of mitotic cell cycle (GO:0000086)|hematopoietic stem cell proliferation (GO:0071425)|lipid metabolic process (GO:0006629)|myoblast differentiation involved in skeletal muscle regeneration (GO:0014835)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of anagen (GO:0051885)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein stabilization (GO:0050821)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of skeletal muscle tissue development (GO:0048641)|sensory perception of taste (GO:0050909)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						GCCCTCAGCCGATCCTGCTCA	0.667																																						uc001rss.2																			0		p.R156Q(1)		skin(4)|lung(3)	7						c.(466-468)CGG>AGG		wingless-type MMTV integration site family,							44.0	39.0	41.0					12																	49361974		2203	4299	6502	SO:0001819	synonymous_variant	7480				axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr12:49361974G>T	X97057	CCDS8775.1	12q13	2009-01-02			ENSG00000169884	ENSG00000169884		"""Wingless-type MMTV integration sites"""	12775	protein-coding gene	gene with protein product		601906				9121776, 9284937, 18515319	Standard	NM_003394		Approved	WNT-12, SHFM6	uc001rss.3	O00744	OTTHUMG00000150734	ENST00000301061.4:c.466C>A	12.37:g.49361974G>T						WNT10B_uc001rst.2_Silent_p.R156R	p.R156R	NM_003394	NP_003385	O00744	WN10B_HUMAN			4	812	-			156					B2R7A5|O00747|Q4VAJ4|Q4VAJ5|Q8WZ97	Silent	SNP	ENST00000301061.4	37	c.466C>A	CCDS8775.1																																																																																				0.667	WNT10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319864.1	NM_003394	
EP400	57634	broad.mit.edu	37	12	132471269	132471269	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr12:132471269C>A	ENST00000333577.4	+	7	2357	c.2248C>A	c.(2248-2250)Ccc>Acc	p.P750T	EP400_ENST00000389562.2_Missense_Mutation_p.P713T|EP400_ENST00000389561.2_Missense_Mutation_p.P714T|EP400_ENST00000332482.4_Missense_Mutation_p.P677T|EP400_ENST00000330386.6_Missense_Mutation_p.P714T			Q96L91	EP400_HUMAN	E1A binding protein p400	750					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GGCATCTGCCCCCACCAAACC	0.532																																						uc001ujn.2																			0				central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12						c.(2140-2142)CCC>ACC		E1A binding protein p400							119.0	120.0	120.0					12																	132471269		2203	4300	6503	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132471269C>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.2248C>A	12.37:g.132471269C>A	ENSP00000333602:p.Pro750Thr					EP400_uc001ujl.2_Missense_Mutation_p.P713T|EP400_uc001ujm.2_Missense_Mutation_p.P714T|EP400_uc001ujj.1_Missense_Mutation_p.P677T|EP400_uc001ujk.2_Missense_Mutation_p.P750T	p.P714T	NM_015409	NP_056224	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	5	2175	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	750					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.2140C>A		.	.	.	.	.	.	.	.	.	.	C	2.598	-0.293655	0.05568	.	.	ENSG00000183495	ENST00000537902;ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000423130;ENST00000541296;ENST00000542457	D;D;D;D;D	0.90004	-2.57;-2.59;-2.6;-2.59;-2.59	5.71	-1.35	0.09114	.	0.448187	0.24891	N	0.034764	T	0.74696	0.3750	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B	0.13594	0.001;0.001;0.001;0.008;0.0	B;B;B;B;B	0.13407	0.001;0.001;0.001;0.009;0.001	T	0.58323	-0.7656	10	0.23891	T	0.37	.	4.1514	0.10240	0.3417:0.2505:0.3375:0.0704	.	714;714;713;750;677	Q96L91-2;Q96L91-4;Q96L91-5;F8WCN8;Q96L91-3	.;.;.;.;.	T	677;750;714;713;677;714;750;714;714	ENSP00000333602:P750T;ENSP00000374212:P714T;ENSP00000374213:P713T;ENSP00000331737:P677T;ENSP00000330620:P714T	ENSP00000330620:P714T	P	+	1	0	EP400	131037222	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.477000	0.06583	0.048000	0.15891	-0.311000	0.09066	CCC		0.532	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409	
RB1	5925	broad.mit.edu	37	13	48919325	48919332	+	Frame_Shift_Del	DEL	AAATTGGA	AAATTGGA	-			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr13:48919325_48919332delAAATTGGA	ENST00000267163.4	+	4	628_635	c.490_497delAAATTGGA	c.(490-498)aaattggaafs	p.KLE164fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	164					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(6)|p.E166*(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	ACTCTTCAGCAAATTGGAAAGGTAAAGT	0.284		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.2		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	D|Mis|N|F|S	retinoblastoma gene			"""L, E, M, O"""		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung		22	Whole gene deletion(15)|Unknown(6)|Substitution - Nonsense(1)	p.?(5)|p.E166*(1)	bone(11)|breast(6)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)|lung(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358						c.(490-498)AAATTGGAAfs		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)																																			SO:0001589	frameshift_variant	5925	Hereditary_Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48919325_48919332delAAATTGGA	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.490_497delAAATTGGA	13.37:g.48919325_48919332delAAATTGGA	ENSP00000267163:p.Lys164fs	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				RB1_uc010acs.1_Intron	p.K164fs	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	4	656_663	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	164_166					A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL	ENST00000267163.4	37	c.490_497delAAATTGGA	CCDS31973.1																																																																																				0.284	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		
AREL1	9870	broad.mit.edu	37	14	75149998	75149998	+	Splice_Site	SNP	C	C	T			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr14:75149998C>T	ENST00000356357.4	-	5	997		c.e5+1		AREL1_ENST00000557401.1_Splice_Site	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1						apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										aaagaaCCTACCAGGTTGAAA	0.388																																						uc001xqb.2																			0				ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1)	5						c.e5+1		hypothetical protein LOC9870							66.0	65.0	65.0					14																	75149998		1825	4083	5908	SO:0001630	splice_region_variant	9870				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity	g.chr14:75149998C>T	AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682			20363	protein-coding gene	gene with protein product		615380	"""KIAA0317"""	KIAA0317		9205841, 23479728	Standard	XM_006720344		Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.481+1G>A	14.37:g.75149998C>T						KIAA0317_uc010tut.1_Splice_Site|KIAA0317_uc001xqc.2_Splice_Site_p.G161_splice	p.G161_splice	NM_001039479	NP_001034568	O15033	K0317_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00404)	5	986	-								B4E2C7|Q7LDY1|Q8IYY9	Splice_Site	SNP	ENST00000356357.4	37	c.481_splice	CCDS41971.1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.823714	0.71143	.	.	ENSG00000119682	ENST00000356357	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0346	0.86470	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA0317	74219751	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.175000	0.77632	2.452000	0.82932	0.462000	0.41574	.		0.388	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335517.2	NM_014821	Intron
PGP	283871	broad.mit.edu	37	16	2263929	2263929	+	Missense_Mutation	SNP	C	C	A	rs563436875		TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr16:2263929C>A	ENST00000333503.7	-	2	795	c.766G>T	c.(766-768)Gtc>Ttc	p.V256F	RP11-304L19.8_ENST00000561544.1_lincRNA|BRICD5_ENST00000328540.3_5'Flank	NM_001042371.2	NP_001035830.1	A6NDG6	PGP_HUMAN	phosphoglycolate phosphatase	256					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)		magnesium ion binding (GO:0000287)|nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|phosphoglycolate phosphatase activity (GO:0008967)|protein tyrosine phosphatase activity (GO:0004725)			skin(1)	1						CCCACCATGACGGTGCGCTCG	0.632																																					GBM(63;906 1080 2092 17773 18795)	uc002cpk.1																			0				skin(1)	1						c.(766-768)GTC>TTC		phosphoglycolate phosphatase							85.0	92.0	90.0					16																	2263929		2040	4216	6256	SO:0001583	missense	283871				carbohydrate metabolic process		phosphoglycolate phosphatase activity	g.chr16:2263929C>A	BC035985	CCDS42104.1	16p13.3	2012-10-02				ENSG00000184207	3.1.3.18		8909	protein-coding gene	gene with protein product		172280					Standard	NM_001042371		Approved		uc002cpk.1	A6NDG6		ENST00000333503.7:c.766G>T	16.37:g.2263929C>A	ENSP00000330918:p.Val256Phe					C16orf79_uc002cpi.1_5'Flank|C16orf79_uc010bsh.2_5'Flank|PGP_uc010uvz.1_RNA	p.V256F	NM_001042371	NP_001035830	A6NDG6	PGP_HUMAN			2	810	-			256						Missense_Mutation	SNP	ENST00000333503.7	37	c.766G>T	CCDS42104.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557396	0.65425	.	.	ENSG00000184207	ENST00000333503	T	0.34859	1.34	4.66	2.71	0.32032	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.240936	0.35262	N	0.003331	T	0.49762	0.1576	M	0.62154	1.92	0.45822	D	0.998697	D	0.61080	0.989	D	0.63877	0.919	T	0.46555	-0.9183	10	0.66056	D	0.02	-16.2661	8.289	0.31946	0.0:0.7368:0.0:0.2632	.	256	A6NDG6	PGP_HUMAN	F	256	ENSP00000330918:V256F	ENSP00000330918:V256F	V	-	1	0	PGP	2203930	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	2.755000	0.47540	0.574000	0.29417	0.655000	0.94253	GTC		0.632	PGP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435095.1	NM_024118	
CDH5	1003	broad.mit.edu	37	16	66426078	66426078	+	Missense_Mutation	SNP	G	G	A	rs147523967		TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr16:66426078G>A	ENST00000341529.3	+	7	1157	c.1009G>A	c.(1009-1011)Gtc>Atc	p.V337I	CDH5_ENST00000563425.2_Missense_Mutation_p.V337I	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	337	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	CAGCTTCATCGTCGAGGCCAC	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		19702	0.001		0.0	False		,,,				2504	0.0					uc002eom.3																			0				ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6						c.(1009-1011)GTC>ATC		cadherin 5, type 2 preproprotein		G	ILE/VAL	1,4401	2.1+/-5.4	0,1,2200	162.0	159.0	160.0		1009	2.2	0.7	16	dbSNP_134	160	0,8600		0,0,4300	no	missense	CDH5	NM_001795.3	29	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	benign	337/785	66426078	1,13001	2201	4300	6501	SO:0001583	missense	1003				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	g.chr16:66426078G>A	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"""CD molecules"", ""Cadherins / Major cadherins"""	1764	protein-coding gene	gene with protein product	"""VE-cadherin"""	601120	"""cadherin 5, type 2, VE-cadherin (vascular epithelium)"""			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.1009G>A	16.37:g.66426078G>A	ENSP00000344115:p.Val337Ile					CDH5_uc002eon.1_Missense_Mutation_p.V337I	p.V337I	NM_001795	NP_001786	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	7	1165	+		Ovarian(137;0.0955)	337			Cadherin 3.|Extracellular (Potential).		Q4VAI5|Q4VAI6	Missense_Mutation	SNP	ENST00000341529.3	37	c.1009G>A	CCDS10804.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	1.566	-0.535388	0.04082	2.27E-4	0.0	ENSG00000179776	ENST00000341529;ENST00000379531;ENST00000539262	T	0.48836	0.8	5.56	2.19	0.27852	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.25531	0.0621	N	0.11651	0.15	0.26949	N	0.966072	B	0.12013	0.005	B	0.14023	0.01	T	0.21690	-1.0238	9	0.21014	T	0.42	.	7.9394	0.29950	0.7568:0.0:0.2432:0.0	.	337	P33151	CADH5_HUMAN	I	337;337;78	ENSP00000344115:V337I	ENSP00000344115:V337I	V	+	1	0	CDH5	64983579	0.018000	0.18449	0.705000	0.30386	0.045000	0.14185	0.290000	0.18975	0.415000	0.25817	-0.302000	0.09304	GTC		0.547	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795	
PMFBP1	83449	broad.mit.edu	37	16	72153835	72153835	+	Silent	SNP	G	G	A	rs201023213		TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr16:72153835G>A	ENST00000237353.10	-	20	3183	c.2922C>T	c.(2920-2922)tgC>tgT	p.C974C	PMFBP1_ENST00000537465.1_Silent_p.C979C|PMFBP1_ENST00000355636.6_Silent_p.C849C|PMFBP1_ENST00000537792.1_Intron	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	979						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CCAAGGTGCCGCACACTTTCT	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		18061	0.0		0.0	False		,,,				2504	0.001					uc002fcc.3																			0				ovary(2)	2						c.(2935-2937)TGC>TGT		polyamine modulated factor 1 binding protein 1							130.0	106.0	114.0					16																	72153835		2198	4300	6498	SO:0001819	synonymous_variant	83449							g.chr16:72153835G>A	AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.2922C>T	16.37:g.72153835G>A						PMFBP1_uc002fcd.2_Silent_p.C974C|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Silent_p.C849C	p.C979C	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN			20	3109	-		Ovarian(137;0.179)	979					B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Silent	SNP	ENST00000237353.10	37	c.2937C>T	CCDS32483.1																																																																																				0.557	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396473.2	NM_031293	
KARS	3735	broad.mit.edu	37	16	75669879	75669879	+	Silent	SNP	C	C	T	rs143003475		TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr16:75669879C>T	ENST00000302445.3	-	5	639	c.600G>A	c.(598-600)ccG>ccA	p.P200P	KARS_ENST00000319410.5_Silent_p.P228P|KARS_ENST00000568378.1_Intron	NM_005548.2	NP_005539.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	200					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|lysyl-tRNA aminoacylation (GO:0006430)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)|viral process (GO:0016032)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|microtubule cytoskeleton (GO:0015630)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid binding (GO:0016597)|ATP binding (GO:0005524)|lysine-tRNA ligase activity (GO:0004824)|metal ion binding (GO:0046872)|tRNA binding (GO:0000049)			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	TGATCTCATACGGAATGATGC	0.448																																						uc002feq.2																			0				ovary(2)	2						c.(598-600)CCG>CCA		lysyl-tRNA synthetase isoform 2	L-Lysine(DB00123)	C	,	1,4395	2.1+/-5.4	0,1,2197	120.0	91.0	101.0		684,600	3.1	0.5	16	dbSNP_134	101	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	KARS	NM_001130089.1,NM_005548.2	,	0,2,6496	TT,TC,CC		0.0116,0.0227,0.0154	,	228/626,200/598	75669879	2,12994	2198	4300	6498	SO:0001819	synonymous_variant	3735				interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding	g.chr16:75669879C>T	AF285758	CCDS10923.1, CCDS45532.1	16q23.1	2014-09-17			ENSG00000065427	ENSG00000065427	6.1.1.6	"""Aminoacyl tRNA synthetases / Class II"""	6215	protein-coding gene	gene with protein product	"""lysine tRNA ligase"""	601421	"""deafness, autosomal recessive 89"""	DFNB89		8812440, 9278442, 23768514	Standard	NM_005548		Approved	KARS2, KARS1	uc002fer.3	Q15046	OTTHUMG00000137609	ENST00000302445.3:c.600G>A	16.37:g.75669879C>T						KARS_uc002fer.2_Silent_p.P228P|KARS_uc002fes.2_Silent_p.P44P|KARS_uc010cgz.2_Silent_p.P44P	p.P200P	NM_005548	NP_005539	Q15046	SYK_HUMAN			5	648	-			200					A8MSK1|D3DUK4|O14946|Q96J25|Q9HB23	Silent	SNP	ENST00000302445.3	37	c.600G>A	CCDS10923.1																																																																																				0.448	KARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269023.1	NM_005548	
OR1G1	8390	broad.mit.edu	37	17	3030338	3030338	+	Missense_Mutation	SNP	C	C	T	rs201573244		TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr17:3030338C>T	ENST00000328890.2	-	1	537	c.508G>A	c.(508-510)Gca>Aca	p.A170T		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	170					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						TCATGGTTTGCGCAGAAGGAC	0.532																																					Colon(127;1481 1654 8243 19426 50557)	uc002fvc.1																			0					0						c.(508-510)GCA>ACA		olfactory receptor, family 1, subfamily G,							166.0	151.0	156.0					17																	3030338		2203	4300	6503	SO:0001583	missense	8390				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3030338C>T	U04689	CCDS11020.1	17p13.3	2012-08-09			ENSG00000183024	ENSG00000183024		"""GPCR / Class A : Olfactory receptors"""	8204	protein-coding gene	gene with protein product				OR1G2		8004088, 9500546	Standard	NM_003555		Approved	OR17-209	uc002fvc.1	P47890	OTTHUMG00000090618	ENST00000328890.2:c.508G>A	17.37:g.3030338C>T	ENSP00000331545:p.Ala170Thr						p.A170T	NM_003555	NP_003546	P47890	OR1G1_HUMAN			1	508	-			170			Extracellular (Potential).		Q4VBM1|Q6IFL9|Q9UM76	Missense_Mutation	SNP	ENST00000328890.2	37	c.508G>A	CCDS11020.1	.	.	.	.	.	.	.	.	.	.	C	7.029	0.560287	0.13498	.	.	ENSG00000183024	ENST00000328890	T	0.36699	1.24	4.53	2.44	0.29823	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.28797	0.0714	N	0.26092	0.79	0.23023	N	0.998414	D	0.69078	0.997	P	0.53035	0.716	T	0.07028	-1.0794	9	0.02654	T	1	.	8.0263	0.30438	0.162:0.7514:0.0:0.0865	.	170	P47890	OR1G1_HUMAN	T	170	ENSP00000331545:A170T	ENSP00000331545:A170T	A	-	1	0	OR1G1	2977088	0.002000	0.14202	0.790000	0.31976	0.428000	0.31595	0.342000	0.19926	0.500000	0.27991	-0.356000	0.07607	GCA		0.532	OR1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207206.2		
TP53	7157	broad.mit.edu	37	17	7577568	7577568	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr17:7577568C>T	ENST00000269305.4	-	7	902	c.713G>A	c.(712-714)tGt>tAt	p.C238Y	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.C238Y|TP53_ENST00000413465.2_Missense_Mutation_p.C238Y|TP53_ENST00000420246.2_Missense_Mutation_p.C238Y|TP53_ENST00000359597.4_Missense_Mutation_p.C238Y|TP53_ENST00000445888.2_Missense_Mutation_p.C238Y	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	238	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and 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.C238Y(65)|p.C238F(46)|p.C238S(9)|p.0?(8)|p.?(5)|p.C145F(5)|p.C145Y(5)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.M237fs*1(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.C145S(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)	GGAACTGTTACACATGTAGTT	0.572		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)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		158	Substitution - Missense(131)|Deletion - In frame(10)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(4)	p.C238Y(47)|p.C238F(34)|p.C238S(18)|p.C238R(14)|p.0?(7)|p.C238*(4)|p.C238W(2)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.C238_N239insX(1)|p.C238_M246delCNSSCMGGM(1)|p.C238fs*9(1)|p.M237_N239delMCN(1)|p.C238fs*21(1)|p.C238del(1)|p.C238G(1)|p.C238C(1)|p.M237fs*1(1)|p.C145F(1)|p.H233fs*6(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.M237_C238insX(1)	breast(22)|ovary(17)|large_intestine(14)|haematopoietic_and_lymphoid_tissue(13)|endometrium(13)|lung(12)|upper_aerodigestive_tract(9)|pancreas(8)|soft_tissue(7)|urinary_tract(7)|oesophagus(7)|biliary_tract(6)|central_nervous_system(6)|liver(5)|bone(5)|stomach(4)|skin(2)|meninges(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM034930	TP53	M		c.(712-714)TGT>TAT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							132.0	103.0	113.0					17																	7577568		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577568C>T	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.713G>A	17.37:g.7577568C>T	ENSP00000269305:p.Cys238Tyr	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)				TP53_uc002gig.1_Missense_Mutation_p.C238Y|TP53_uc002gih.2_Missense_Mutation_p.C238Y|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C106Y|TP53_uc010cng.1_Missense_Mutation_p.C106Y|TP53_uc002gii.1_Missense_Mutation_p.C106Y|TP53_uc010cnh.1_Missense_Mutation_p.C238Y|TP53_uc010cni.1_Missense_Mutation_p.C238Y|TP53_uc002gij.2_Missense_Mutation_p.C238Y|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C145Y|TP53_uc002gio.2_Missense_Mutation_p.C106Y	p.C238Y	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	907	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	238		C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).	Zinc.	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	Missense_Mutation	SNP	ENST00000269305.4	37	c.713G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327056	0.81690	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99964	-9.96;-9.96;-9.96;-9.96;-9.96;-9.96;-9.96;-9.96	4.09	4.09	0.47781	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99972	0.9991	M	0.92970	3.365	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.95847	0.8871	10	0.87932	D	0	-18.536	14.6088	0.68501	0.0:1.0:0.0:0.0	.	238;238;145;238;238;238	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Y	238;238;238;238;238;238;227;145;106;145	ENSP00000410739:C238Y;ENSP00000352610:C238Y;ENSP00000269305:C238Y;ENSP00000398846:C238Y;ENSP00000391127:C238Y;ENSP00000391478:C238Y;ENSP00000425104:C106Y;ENSP00000423862:C145Y	ENSP00000269305:C238Y	C	-	2	0	TP53	7518293	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.556000	0.82233	2.564000	0.86499	0.462000	0.41574	TGT		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
TP53	7157	broad.mit.edu	37	17	7578235	7578235	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr17:7578235T>C	ENST00000269305.4	-	6	803	c.614A>G	c.(613-615)tAt>tGt	p.Y205C	TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.Y205C|TP53_ENST00000413465.2_Missense_Mutation_p.Y205C|TP53_ENST00000420246.2_Missense_Mutation_p.Y205C|TP53_ENST00000359597.4_Missense_Mutation_p.Y205C|TP53_ENST00000445888.2_Missense_Mutation_p.Y205C	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	205	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (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.Y205C(68)|p.Y205S(14)|p.Y205F(8)|p.0?(8)|p.Y112C(5)|p.?(5)|p.Y73C(5)|p.Y73S(1)|p.Y112S(1)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(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)	GTCATCCAAATACTCCACACG	0.542		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)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		117	Substitution - Missense(102)|Whole gene deletion(8)|Unknown(5)|Deletion - In frame(1)|Deletion - Frameshift(1)	p.Y205C(55)|p.Y205D(13)|p.Y205S(11)|p.Y205F(8)|p.0?(7)|p.Y205H(5)|p.Y205*(4)|p.Y205N(2)|p.K164_P219del(1)|p.Y205fs*42(1)|p.Y112C(1)|p.Y205fs*43(1)|p.E204fs*39(1)|p.Y73C(1)|p.E204_N210delEYLDDRN(1)	lung(20)|upper_aerodigestive_tract(19)|central_nervous_system(10)|large_intestine(9)|biliary_tract(8)|breast(6)|ovary(6)|haematopoietic_and_lymphoid_tissue(5)|endometrium(5)|urinary_tract(5)|bone(5)|soft_tissue(4)|oesophagus(4)|stomach(3)|liver(3)|pancreas(2)|vulva(1)|skin(1)|prostate(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(613-615)TAT>TGT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							136.0	121.0	126.0					17																	7578235		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578235T>C	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.614A>G	17.37:g.7578235T>C	ENSP00000269305:p.Tyr205Cys	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)				TP53_uc002gig.1_Missense_Mutation_p.Y205C|TP53_uc002gih.2_Missense_Mutation_p.Y205C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y73C|TP53_uc010cng.1_Missense_Mutation_p.Y73C|TP53_uc002gii.1_Missense_Mutation_p.Y73C|TP53_uc010cnh.1_Missense_Mutation_p.Y205C|TP53_uc010cni.1_Missense_Mutation_p.Y205C|TP53_uc002gij.2_Missense_Mutation_p.Y205C|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y112C|TP53_uc002gio.2_Missense_Mutation_p.Y73C|TP53_uc010vug.1_Missense_Mutation_p.Y166C	p.Y205C	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	808	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	205		Y -> N (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> C (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		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	Missense_Mutation	SNP	ENST00000269305.4	37	c.614A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	17.85	3.490024	0.64074	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99872	-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36	5.41	4.33	0.51752	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88906	2.99	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.995;0.998;0.995;0.997;0.999;0.997;0.996	D	0.97320	0.9943	10	0.87932	D	0	-5.8058	9.707	0.40222	0.0:0.0827:0.0:0.9173	.	166;205;205;112;205;205;205	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	205;205;205;205;205;205;194;112;73;112;73	ENSP00000410739:Y205C;ENSP00000352610:Y205C;ENSP00000269305:Y205C;ENSP00000398846:Y205C;ENSP00000391127:Y205C;ENSP00000391478:Y205C;ENSP00000425104:Y73C;ENSP00000423862:Y112C	ENSP00000269305:Y205C	Y	-	2	0	TP53	7518960	1.000000	0.71417	0.137000	0.22149	0.045000	0.14185	7.996000	0.88334	1.001000	0.39076	-0.256000	0.11100	TAT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
MYH2	4620	broad.mit.edu	37	17	10432765	10432765	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr17:10432765G>A	ENST00000245503.5	-	25	3535	c.3151C>T	c.(3151-3153)Cgc>Tgc	p.R1051C	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1051C|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1051					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.R1051C(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGGTCCATGCGAAGTTTCTTT	0.383																																						uc010coi.2																			1	Substitution - Missense(1)		prostate(1)	ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(3151-3153)CGC>TGC		myosin heavy chain IIa							123.0	117.0	119.0					17																	10432765		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10432765G>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3151C>T	17.37:g.10432765G>A	ENSP00000245503:p.Arg1051Cys					uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.R1051C|MYH2_uc010coj.2_Intron	p.R1051C	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			25	3279	-			1051			Potential.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.3151C>T	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.069009	0.55539	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.95885	-3.84;-3.84	5.24	5.24	0.73138	.	0.000000	0.40144	U	0.001162	D	0.97235	0.9096	H	0.97265	3.97	0.80722	D	1	B	0.19073	0.033	B	0.18263	0.021	D	0.95818	0.8847	10	0.87932	D	0	.	19.0151	0.92890	0.0:0.0:1.0:0.0	.	1051	Q9UKX2	MYH2_HUMAN	C	1051	ENSP00000245503:R1051C;ENSP00000380367:R1051C	ENSP00000245503:R1051C	R	-	1	0	MYH2	10373490	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	4.349000	0.59385	2.718000	0.92993	0.591000	0.81541	CGC		0.383	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534	
MUC16	94025	broad.mit.edu	37	19	9068025	9068025	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr19:9068025T>C	ENST00000397910.4	-	3	19624	c.19421A>G	c.(19420-19422)cAc>cGc	p.H6474R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6476	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CATAGCTGAGTGGGTCCCTGC	0.488																																						uc002mkp.2																			0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(19420-19422)CAC>CGC		mucin 16							201.0	200.0	200.0					19																	9068025		2002	4180	6182	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9068025T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.19421A>G	19.37:g.9068025T>C	ENSP00000381008:p.His6474Arg						p.H6474R	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	19625	-			6476			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.19421A>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	3.034	-0.198948	0.06219	.	.	ENSG00000181143	ENST00000397910	T	0.37915	1.17	1.83	-0.554	0.11811	.	.	.	.	.	T	0.20170	0.0485	L	0.42245	1.32	.	.	.	P	0.39809	0.689	B	0.26693	0.072	T	0.18967	-1.0320	8	0.87932	D	0	.	2.4496	0.04515	0.271:0.0:0.2765:0.4525	.	6474	B5ME49	.	R	6474	ENSP00000381008:H6474R	ENSP00000381008:H6474R	H	-	2	0	MUC16	8929025	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	-0.201000	0.09464	-0.204000	0.10235	0.149000	0.16113	CAC		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
LDLR	3949	broad.mit.edu	37	19	11224247	11224247	+	Silent	SNP	T	T	C			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr19:11224247T>C	ENST00000558518.1	+	10	1582	c.1395T>C	c.(1393-1395)taT>taC	p.Y465Y	LDLR_ENST00000545707.1_Silent_p.Y338Y|LDLR_ENST00000455727.2_Silent_p.Y297Y|LDLR_ENST00000558013.1_Silent_p.Y465Y|LDLR_ENST00000557933.1_Silent_p.Y465Y|LDLR_ENST00000535915.1_Silent_p.Y424Y	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	465					cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	TCTCTTCCTATGACACCGTCA	0.622																																					GBM(18;201 575 7820 21545)	uc002mqk.3																			1	Unknown(1)		lung(1)	ovary(2)|skin(2)	4						c.(1393-1395)TAT>TAC		low density lipoprotein receptor precursor	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)						45.0	43.0	44.0					19																	11224247		2203	4300	6503	SO:0001819	synonymous_variant	3949				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	g.chr19:11224247T>C	AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"""Low density lipoprotein receptors"""	6547	protein-coding gene	gene with protein product	"""familial hypercholesterolemia"""	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.1395T>C	19.37:g.11224247T>C						LDLR_uc010xlk.1_Silent_p.Y465Y|LDLR_uc010xll.1_Silent_p.Y424Y|LDLR_uc010xlm.1_Silent_p.Y318Y|LDLR_uc010xln.1_Silent_p.Y338Y|LDLR_uc010xlo.1_Silent_p.Y297Y	p.Y465Y	NM_000527	NP_000518	P01130	LDLR_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	10	1563	+		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)	465			LDL-receptor class B 2.|Extracellular (Potential).		B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Silent	SNP	ENST00000558518.1	37	c.1395T>C	CCDS12254.1																																																																																				0.622	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415973.2		
PRPF31	26121	broad.mit.edu	37	19	54621969	54621969	+	Missense_Mutation	SNP	T	T	C	rs145505952	byFrequency	TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr19:54621969T>C	ENST00000321030.4	+	3	543	c.194T>C	c.(193-195)aTg>aCg	p.M65T	TFPT_ENST00000391759.1_5'Flank|AC012314.8_ENST00000452097.1_RNA|PRPF31_ENST00000419967.1_Missense_Mutation_p.M65T|PRPF31_ENST00000391755.1_Missense_Mutation_p.M65T	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31	65					mRNA splicing, via spliceosome (GO:0000398)|spliceosomal tri-snRNP complex assembly (GO:0000244)	Cajal body (GO:0015030)|MLL1 complex (GO:0071339)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|U2-type spliceosomal complex (GO:0005684)|U4 snRNP (GO:0005687)|U4/U6 x U5 tri-snRNP complex (GO:0046540)|U4atac snRNP (GO:0005690)	poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|snRNP binding (GO:0070990)			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GAGATTATGATGAAGATTGAG	0.502																																						uc002qdh.2																			0				ovary(1)	1						c.(193-195)ATG>ACG		pre-mRNA processing factor 31 homolog							165.0	161.0	162.0					19																	54621969		2203	4300	6503	SO:0001583	missense	26121				assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding	g.chr19:54621969T>C	AL050369	CCDS12879.1	19q13.4	2013-07-16	2013-06-10		ENSG00000105618	ENSG00000105618			15446	protein-coding gene	gene with protein product		606419	"""PRP31 pre-mRNA processing factor 31 homolog (yeast)"", ""PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae)"""	RP11		11545739	Standard	NM_015629		Approved	NY-BR-99, PRP31, hPrp31, SNRNP61	uc002qdh.2	Q8WWY3	OTTHUMG00000066040	ENST00000321030.4:c.194T>C	19.37:g.54621969T>C	ENSP00000324122:p.Met65Thr					TFPT_uc010yej.1_5'Flank|TFPT_uc010erd.2_5'Flank|PRPF31_uc010yek.1_Missense_Mutation_p.M65T	p.M65T	NM_015629	NP_056444	Q8WWY3	PRP31_HUMAN			3	590	+	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		65					Q17RB4|Q8N7F9|Q9H271|Q9Y439	Missense_Mutation	SNP	ENST00000321030.4	37	c.194T>C	CCDS12879.1	.	.	.	.	.	.	.	.	.	.	T	7.523	0.657061	0.14580	.	.	ENSG00000105618	ENST00000321030;ENST00000445811;ENST00000263436;ENST00000419967;ENST00000445124;ENST00000447810;ENST00000391755	T;D;T;D;D;D	0.89485	-0.94;-2.52;-0.94;-2.52;-2.52;-2.52	4.96	4.96	0.65561	.	0.332611	0.32769	N	0.005672	T	0.70334	0.3212	N	0.01168	-0.975	0.31846	N	0.6228	B;B	0.09022	0.002;0.0	B;B	0.01281	0.0;0.0	T	0.65990	-0.6034	10	0.12103	T	0.63	-22.1877	13.9511	0.64118	0.0:0.0:0.0:1.0	.	65;65	E7ESA8;Q8WWY3	.;PRP31_HUMAN	T	65	ENSP00000324122:M65T;ENSP00000395894:M65T;ENSP00000405166:M65T;ENSP00000408980:M65T;ENSP00000395089:M65T;ENSP00000375635:M65T	ENSP00000263436:M65T	M	+	2	0	PRPF31	59313781	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.481000	0.45215	1.997000	0.58415	0.533000	0.62120	ATG		0.502	PRPF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141417.2		
SPTBN1	6711	broad.mit.edu	37	2	54756737	54756737	+	Intron	SNP	T	T	C			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr2:54756737T>C	ENST00000356805.4	+	2	429				AC092839.3_ENST00000433475.1_RNA	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1						actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CCACTGAGTTTGCCATGAAGA	0.478																																						uc010yot.1																			0					0						c.(253-255)TTT>TTC		SubName: Full=Putative uncharacterized protein DKFZp547I014;																																				SO:0001627	intron_variant	56969							g.chr2:54756737T>C		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.148+3034T>C	2.37:g.54756737T>C						SPTBN1_uc002rxu.2_Intron|SPTBN1_uc002rxv.1_Intron	p.F85F	NR_002229						1	379	+								B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Silent	SNP	ENST00000356805.4	37	c.255T>C	CCDS33198.1																																																																																				0.478	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3		
TGFA	7039	broad.mit.edu	37	2	70742029	70742029	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr2:70742029G>A	ENST00000295400.6	-	2	303	c.56C>T	c.(55-57)gCg>gTg	p.A19V	TGFA_ENST00000444975.1_Missense_Mutation_p.A25V|TGFA_ENST00000450929.1_Missense_Mutation_p.A25V|TGFA_ENST00000460808.1_5'UTR|TGFA_ENST00000418333.2_Missense_Mutation_p.A19V|TGFA_ENST00000445399.1_Missense_Mutation_p.A19V	NM_001099691.2|NM_003236.3	NP_001093161.1|NP_003227.1	P01135	TGFA_HUMAN	transforming growth factor, alpha	19					activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|mammary gland alveolus development (GO:0060749)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell division (GO:0051781)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mitosis (GO:0045840)|response to drug (GO:0042493)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|MAP kinase kinase activity (GO:0004708)	p.A19V(1)		haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	4						GGCCTGGCACGCAGCCAACAC	0.597																																						uc002sgs.3																			1	Substitution - Missense(1)		lung(1)	prostate(1)	1						c.(55-57)GCG>GTG		transforming growth factor, alpha isoform 1							74.0	65.0	68.0					2																	70742029		2203	4300	6503	SO:0001583	missense	7039				activation of MAPK activity|cell proliferation|positive regulation of cell division|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis	cell surface|extracellular space|integral to membrane|plasma membrane	epidermal growth factor receptor binding|growth factor activity|MAP kinase kinase activity|signal transducer activity	g.chr2:70742029G>A		CCDS1905.1, CCDS46316.1	2p13	2012-10-02			ENSG00000163235	ENSG00000163235			11765	protein-coding gene	gene with protein product		190170				3459638, 10552925	Standard	NM_003236		Approved		uc002sgs.4	P01135	OTTHUMG00000129669	ENST00000295400.6:c.56C>T	2.37:g.70742029G>A	ENSP00000295400:p.Ala19Val					TGFA_uc010fdq.2_Missense_Mutation_p.A25V|TGFA_uc010fdr.2_Missense_Mutation_p.A25V|TGFA_uc002sgt.3_Missense_Mutation_p.A19V|TGFA_uc002sgu.2_Missense_Mutation_p.A19V|TGFA_uc002sgv.2_Missense_Mutation_p.A19V|TGFA_uc002sgw.2_Missense_Mutation_p.A19V	p.A19V	NM_003236	NP_003227	P01135	TGFA_HUMAN			2	262	-			19					A8K286|Q15577|Q53SK7|Q9BS56|Q9UEI3|Q9UKM1|Q9UKM2|Q9UKM3	Missense_Mutation	SNP	ENST00000295400.6	37	c.56C>T	CCDS1905.1	.	.	.	.	.	.	.	.	.	.	G	5.866	0.344039	0.11126	.	.	ENSG00000163235	ENST00000295400;ENST00000445399;ENST00000418333;ENST00000450929;ENST00000444975;ENST00000394241	T;T;T;T;T;T	0.17213	2.55;2.31;2.31;2.3;2.29;2.3	5.14	2.6	0.31112	.	0.377651	0.24940	N	0.034385	T	0.07098	0.0180	N	0.08118	0	0.24501	N	0.994259	B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0;0.0	T	0.36553	-0.9743	10	0.20519	T	0.43	.	6.2326	0.20744	0.7672:0.0:0.2328:0.0	.	25;25;19;19;19;19;19	E7EPT6;F8VNR3;P01135-5;Q9UKM3;P01135-3;P01135-2;P01135	.;.;.;.;.;.;TGFA_HUMAN	V	19;19;19;25;25;19	ENSP00000295400:A19V;ENSP00000387493:A19V;ENSP00000404099:A19V;ENSP00000414127:A25V;ENSP00000404131:A25V;ENSP00000377787:A19V	ENSP00000295400:A19V	A	-	2	0	TGFA	70595537	1.000000	0.71417	0.917000	0.36280	0.231000	0.25187	2.007000	0.40883	0.435000	0.26365	-0.345000	0.07892	GCG		0.597	TGFA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251870.2		
THNSL2	55258	broad.mit.edu	37	2	88472749	88472749	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr2:88472749G>A	ENST00000324166.5	+	1	1771	c.80G>A	c.(79-81)gGg>gAg	p.G27E	THNSL2_ENST00000358591.2_Missense_Mutation_p.G27E|THNSL2_ENST00000402102.1_Missense_Mutation_p.G27E|THNSL2_ENST00000449349.1_Intron|THNSL2_ENST00000377254.3_Missense_Mutation_p.G27E|THNSL2_ENST00000343544.4_Missense_Mutation_p.G27E	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	27					2-oxobutyrate biosynthetic process (GO:0046360)|dephosphorylation (GO:0016311)|serine family amino acid catabolic process (GO:0009071)	extracellular space (GO:0005615)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|serine binding (GO:0070905)	p.G27V(1)		breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						GCACCTGACGGGGGCCTCTTT	0.607																																						uc002ssz.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(79-81)GGG>GAG		threonine synthase-like 2							65.0	70.0	68.0					2																	88472749		2203	4300	6503	SO:0001583	missense	55258				threonine biosynthetic process		threonine synthase activity	g.chr2:88472749G>A		CCDS2002.2, CCDS58718.1, CCDS74539.1	2p11.2	2007-06-20			ENSG00000144115	ENSG00000144115			25602	protein-coding gene	gene with protein product		611261				17034760	Standard	NM_018271		Approved	FLJ10916	uc021vkr.1	Q86YJ6	OTTHUMG00000130314	ENST00000324166.5:c.80G>A	2.37:g.88472749G>A	ENSP00000327323:p.Gly27Glu					THNSL2_uc002ssv.2_Intron|THNSL2_uc002ssw.3_Missense_Mutation_p.G27E|THNSL2_uc002ssx.3_Intron|THNSL2_uc002sta.3_Intron|THNSL2_uc002ssy.3_Missense_Mutation_p.G27E	p.G27E	NM_018271	NP_060741	Q86YJ6	THNS2_HUMAN			2	233	+			27					B3KTB1|B5MDX8|B7WPF8|D9ZZB8|Q6P2M7|Q6PI27|Q9NV54	Missense_Mutation	SNP	ENST00000324166.5	37	c.80G>A	CCDS2002.2	.	.	.	.	.	.	.	.	.	.	G	17.15	3.315901	0.60524	.	.	ENSG00000144115	ENST00000358591;ENST00000377254;ENST00000402102;ENST00000419759;ENST00000343544;ENST00000324166	T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91	5.36	5.36	0.76844	Pyridoxal phosphate-dependent enzyme, beta subunit (1);	0.000000	0.64402	U	0.000001	T	0.65302	0.2678	H	0.95816	3.725	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.77051	-0.2731	10	0.87932	D	0	.	18.0741	0.89422	0.0:0.0:1.0:0.0	.	27;27	Q86YJ6;Q86YJ6-2	THNS2_HUMAN;.	E	27	ENSP00000351402:G27E;ENSP00000366464:G27E;ENSP00000384475:G27E;ENSP00000391300:G27E;ENSP00000339563:G27E;ENSP00000327323:G27E	ENSP00000327323:G27E	G	+	2	0	THNSL2	88253864	1.000000	0.71417	0.631000	0.29282	0.017000	0.09413	7.337000	0.79256	2.496000	0.84212	0.561000	0.74099	GGG		0.607	THNSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252662.1	NM_018271	
WASH2P	375260	broad.mit.edu	37	2	114356239	114356239	+	RNA	SNP	T	T	C	rs11490622	byFrequency	TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr2:114356239T>C	ENST00000538033.2	+	0	2419							Q6VEQ5	WASH2_HUMAN	WAS protein family homolog 2 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										CCTTTGCCCGTGTGTCAGACT	0.642													.|||	2373	0.473842	0.5174	0.4135	5008	,	,		16997	0.4256		0.4911	False		,,,				2504	0.4898					uc002tkh.2																			0					0						c.(715-717)CGT>CGC		WAS protein family homolog 1																																						375260							g.chr2:114356239T>C			2q13	2010-07-08	2008-01-16	2008-01-16	ENSG00000146556	ENSG00000146556		"""WAS protein homologs"""	33145	pseudogene	pseudogene			"""family with sequence similarity 39, member B"""	FAM39B		18159949	Standard	NR_024077		Approved	MGC52000	uc002tkh.3	Q6VEQ5	OTTHUMG00000047822		2.37:g.114356239T>C						WASH2P_uc002tka.2_RNA|WASH2P_uc002tkb.2_RNA|WASH2P_uc002tkd.2_RNA	p.R239R	NM_182905	NP_878908					6	775	+									Silent	SNP	ENST00000538033.2	37	c.717T>C																																																																																					0.642	WASH2P-002	KNOWN	mRNA_end_NF|basic	retained_intron	pseudogene	OTTHUMT00000467782.1	NM_198943	
MAP3K19	80122	broad.mit.edu	37	2	135745654	135745654	+	Missense_Mutation	SNP	T	T	G			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr2:135745654T>G	ENST00000375845.3	-	7	818	c.788A>C	c.(787-789)gAg>gCg	p.E263A	MAP3K19_ENST00000358371.4_Missense_Mutation_p.E150A|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.E280A|MAP3K19_ENST00000375844.3_Intron	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	263							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										TCCCGGAGGCTCGTTTGATGG	0.443																																						uc002tue.1																			0				stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5						c.(787-789)GAG>GCG		Yeast Sps1/Ste20-related kinase 4 isoform 1							79.0	85.0	83.0					2																	135745654		2203	4300	6503	SO:0001583	missense	80122						ATP binding|protein serine/threonine kinase activity	g.chr2:135745654T>G	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.788A>C	2.37:g.135745654T>G	ENSP00000365005:p.Glu263Ala					YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.E150A|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_5'UTR|YSK4_uc002tui.3_Missense_Mutation_p.E280A	p.E263A	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	7	819	-			263					B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.788A>C	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	T	5.244	0.230424	0.09969	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915	T;T;T	0.70282	-0.47;-0.47;1.9	4.62	0.795	0.18643	.	0.372474	0.19226	N	0.119529	T	0.44891	0.1315	N	0.08118	0	0.09310	N	0.999995	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.35649	-0.9780	10	0.87932	D	0	.	5.0391	0.14449	0.0:0.1617:0.1539:0.6844	.	150;280;263	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	A	263;150;280	ENSP00000365005:E263A;ENSP00000351140:E150A;ENSP00000376647:E280A	ENSP00000351140:E150A	E	-	2	0	YSK4	135462124	0.001000	0.12720	0.009000	0.14445	0.001000	0.01503	0.128000	0.15810	-0.010000	0.14271	-0.297000	0.09499	GAG		0.443	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052	
ARHGAP15	55843	broad.mit.edu	37	2	143913090	143913090	+	Missense_Mutation	SNP	G	G	A	rs140767178		TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr2:143913090G>A	ENST00000295095.6	+	2	198	c.31G>A	c.(31-33)Gtg>Atg	p.V11M	ARHGAP15_ENST00000409869.1_Missense_Mutation_p.V11M	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	11					positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TGATACTTCCGTGGAAACACT	0.363																																						uc002tvm.3																			0				ovary(1)|skin(1)	2						c.(31-33)GTG>ATG		ARHGAP15		G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	66.0	59.0	61.0		31	-4.0	0.0	2	dbSNP_134	61	0,8600		0,0,4300	yes	missense	ARHGAP15	NM_018460.3	21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	11/476	143913090	1,13005	2203	4300	6503	SO:0001583	missense	55843				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	g.chr2:143913090G>A	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.31G>A	2.37:g.143913090G>A	ENSP00000295095:p.Val11Met					ARHGAP15_uc010zbl.1_Missense_Mutation_p.V11M	p.V11M	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.151)	2	182	+			11					Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Missense_Mutation	SNP	ENST00000295095.6	37	c.31G>A	CCDS2184.1	.	.	.	.	.	.	.	.	.	.	G	6.554	0.470566	0.12461	2.27E-4	0.0	ENSG00000075884	ENST00000409869;ENST00000295095	T	0.08546	3.08	5.96	-3.96	0.04106	.	1.123690	0.06556	N	0.745888	T	0.04048	0.0113	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.40384	-0.9566	10	0.37606	T	0.19	.	1.823	0.03115	0.3093:0.0738:0.3019:0.3149	.	11;11	B4E0R3;Q53QZ3	.;RHG15_HUMAN	M	11	ENSP00000295095:V11M	ENSP00000295095:V11M	V	+	1	0	ARHGAP15	143629560	0.002000	0.14202	0.012000	0.15200	0.582000	0.36321	-0.186000	0.09670	-1.790000	0.01263	-2.472000	0.00202	GTG		0.363	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	NM_018460	
SCN7A	6332	broad.mit.edu	37	2	167262458	167262458	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr2:167262458C>A	ENST00000409855.1	-	25	4807	c.4681G>T	c.(4681-4683)Gct>Tct	p.A1561S		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1561					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)	AGGTCCAAAGCAATGAGCTGG	0.453																																						uc002udu.1																			0				large_intestine(1)	1						c.(4681-4683)GCT>TCT		sodium channel, voltage-gated, type VII, alpha							115.0	117.0	116.0					2																	167262458		1946	4181	6127	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167262458C>A	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.4681G>T	2.37:g.167262458C>A	ENSP00000386796:p.Ala1561Ser						p.A1561S	NM_002976	NP_002967	Q01118	SCN7A_HUMAN			25	4808	-			1561						Missense_Mutation	SNP	ENST00000409855.1	37	c.4681G>T	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.832188	0.50845	.	.	ENSG00000136546	ENST00000409855;ENST00000259060	D	0.96522	-4.04	4.69	4.69	0.59074	.	0.000000	0.56097	D	0.000026	D	0.96312	0.8797	L	0.31664	0.95	0.30130	N	0.804917	P	0.52463	0.953	D	0.74674	0.984	D	0.93361	0.6727	10	0.41790	T	0.15	.	15.4902	0.75600	0.0:1.0:0.0:0.0	.	1561	Q01118	SCN7A_HUMAN	S	1561	ENSP00000386796:A1561S	ENSP00000259060:A1561S	A	-	1	0	SCN7A	166970704	0.000000	0.05858	0.931000	0.37212	0.994000	0.84299	-0.228000	0.09114	2.612000	0.88384	0.650000	0.86243	GCT		0.453	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1		
INPP5D	3635	broad.mit.edu	37	2	234106832	234106832	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr2:234106832G>A	ENST00000359570.5	+	27	2749	c.2749G>A	c.(2749-2751)Gtg>Atg	p.V917M	INPP5D_ENST00000455936.2_Missense_Mutation_p.V681M|INPP5D_ENST00000450745.1_Missense_Mutation_p.V681M			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	929					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GCCCCTGCACGTGAAGCAGAC	0.647																																					NSCLC(82;1215 1426 16163 20348 41018)	uc010zmo.1																			0				ovary(1)|central_nervous_system(1)	2						c.(2785-2787)GTG>ATG		SH2 containing inositol phosphatase isoform a							30.0	34.0	33.0					2																	234106832		1983	4170	6153	SO:0001583	missense	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:234106832G>A	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.2749G>A	2.37:g.234106832G>A	ENSP00000352575:p.Val917Met					INPP5D_uc010zmp.1_Missense_Mutation_p.V928M	p.V929M	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	24	2938	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	929			Pro-rich.		O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	ENST00000359570.5	37	c.2785G>A		.	.	.	.	.	.	.	.	.	.	G	0.845	-0.740630	0.03088	.	.	ENSG00000168918	ENST00000359570;ENST00000450745;ENST00000455936;ENST00000435188;ENST00000415617;ENST00000445964;ENST00000417661	D;D;D;D;D;D	0.96365	-3.95;-3.99;-3.99;-3.99;-3.99;-3.99	4.92	-0.56	0.11789	.	1.172470	0.05996	N	0.646848	D	0.90837	0.7122	.	.	.	0.09310	N	1	B;B	0.18610	0.029;0.017	B;B	0.11329	0.006;0.003	T	0.78961	-0.1997	9	0.35671	T	0.21	.	1.2884	0.02055	0.4189:0.1565:0.2842:0.1404	.	928;929	Q92835-2;Q92835	.;SHIP1_HUMAN	M	917;681;681;550;550;550;51	ENSP00000352575:V917M;ENSP00000407916:V681M;ENSP00000404610:V681M;ENSP00000400151:V550M;ENSP00000397421:V550M;ENSP00000405338:V550M	ENSP00000352575:V917M	V	+	1	0	INPP5D	233771571	0.016000	0.18221	0.000000	0.03702	0.054000	0.15201	-0.056000	0.11787	-0.359000	0.08150	-1.553000	0.00894	GTG		0.647	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915	
UGT1A1	54658	broad.mit.edu	37	2	234669017	234669017	+	Silent	SNP	G	G	A			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr2:234669017G>A	ENST00000608383.1	+	1	84	c.84G>A	c.(82-84)ggG>ggA	p.G28G	UGT1A1_ENST00000373450.4_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000360418.3_Silent_p.G28G|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000609767.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A8_ENST00000305208.5_Silent_p.G28G			P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	28					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	CCCATGCTGGGAAGATACTGT	0.617																																						uc002vvb.2																			0				central_nervous_system(1)|skin(1)	2						c.(82-84)GGG>GGA		UDP glycosyltransferase 1 family, polypeptide A1	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)						64.0	50.0	55.0					2																	234669017		2203	4300	6503	SO:0001819	synonymous_variant	54658				bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	g.chr2:234669017G>A	M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000608383.1:c.84G>A	2.37:g.234669017G>A						UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron|UGT1A9_uc002vva.2_Intron|UGT1A1_uc010znc.1_Silent_p.G28G	p.G28G	NM_000463	NP_000454	P22309	UD11_HUMAN		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	1	99	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	28					A6NJC3|B8K286	Silent	SNP	ENST00000608383.1	37	c.84G>A	CCDS2510.1																																																																																				0.617	UGT1A1-203	KNOWN	basic|CCDS	protein_coding	protein_coding			
PPP1R7	5510	broad.mit.edu	37	2	242105797	242105797	+	Missense_Mutation	SNP	C	C	G			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr2:242105797C>G	ENST00000234038.6	+	8	1234	c.760C>G	c.(760-762)Ctg>Gtg	p.L254V	PPP1R7_ENST00000485630.1_3'UTR|PPP1R7_ENST00000401987.1_Missense_Mutation_p.L211V|PPP1R7_ENST00000272983.8_Missense_Mutation_p.L211V|PPP1R7_ENST00000402734.1_Missense_Mutation_p.L195V|PPP1R7_ENST00000407025.1_Missense_Mutation_p.L254V|PPP1R7_ENST00000404405.3_Missense_Mutation_p.L248V|PPP1R7_ENST00000406106.3_Missense_Mutation_p.L254V	NM_001282412.1|NM_001282413.1|NM_002712.1	NP_001269341.1|NP_001269342.1|NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	254					positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	enzyme regulator activity (GO:0030234)|protein phosphatase type 1 regulator activity (GO:0008599)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		CCTGGTGAACCTGCGGGAGCT	0.552																																					NSCLC(62;446 1299 5417 11238 27640)	uc002wat.1																			0				ovary(3)	3						c.(760-762)CTG>GTG		protein phosphatase 1, regulatory subunit 7							105.0	86.0	93.0					2																	242105797		2203	4300	6503	SO:0001583	missense	5510					cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity	g.chr2:242105797C>G	AF067136	CCDS2546.1, CCDS63190.1, CCDS63192.1, CCDS63193.1, CCDS63194.1	2q37.3	2012-04-17	2011-10-04		ENSG00000115685	ENSG00000115685		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9295	protein-coding gene	gene with protein product		602877	"""protein phosphatase 1, regulatory (inhibitor) subunit 7"""			7498485, 7670491, 10231361	Standard	NM_001282413		Approved	sds22	uc002wat.1	Q15435	OTTHUMG00000133390	ENST00000234038.6:c.760C>G	2.37:g.242105797C>G	ENSP00000234038:p.Leu254Val					PPP1R7_uc010fzm.1_Missense_Mutation_p.L238V|PPP1R7_uc002war.2_Missense_Mutation_p.L248V|PPP1R7_uc002was.2_Missense_Mutation_p.L254V|PPP1R7_uc002wau.1_Missense_Mutation_p.L211V|PPP1R7_uc002wav.1_Missense_Mutation_p.L180V	p.L254V	NM_002712	NP_002703	Q15435	PP1R7_HUMAN		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)	8	775	+		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	254			LRR 9.		B4DFD4|B5MCY6|Q9UQE5|Q9UQE6|Q9Y6K4	Missense_Mutation	SNP	ENST00000234038.6	37	c.760C>G	CCDS2546.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.825385	0.71143	.	.	ENSG00000115685	ENST00000438799;ENST00000402734;ENST00000423280;ENST00000407025;ENST00000272983;ENST00000234038;ENST00000404405;ENST00000406106;ENST00000401987	T;T;T;T;T;T;T;T;T	0.61040	0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14	5.38	3.58	0.41010	.	0.000000	0.85682	D	0.000000	T	0.75443	0.3850	M	0.85859	2.78	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;0.996;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;0.996;0.982;0.99;0.999	T	0.78216	-0.2290	10	0.87932	D	0	-12.1954	9.8166	0.40856	0.0:0.7798:0.0:0.2202	.	238;195;211;254;254;248	C9JD73;C9J177;Q15435-2;Q15435;Q15435-3;B5MBZ8	.;.;.;PP1R7_HUMAN;.;.	V	238;195;195;254;211;254;248;254;211	ENSP00000396376:L238V;ENSP00000385012:L195V;ENSP00000412092:L195V;ENSP00000385657:L254V;ENSP00000272983:L211V;ENSP00000234038:L254V;ENSP00000385498:L248V;ENSP00000385022:L254V;ENSP00000385466:L211V	ENSP00000234038:L254V	L	+	1	2	PPP1R7	241754470	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.516000	0.35856	1.273000	0.44346	-0.136000	0.14681	CTG		0.552	PPP1R7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257244.4	NM_002712	
SNX5	27131	broad.mit.edu	37	20	17950509	17950509	+	5'Flank	SNP	A	A	G			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr20:17950509A>G	ENST00000377768.3	-	0	0				MGME1_ENST00000377709.1_Missense_Mutation_p.M3V|SNX5_ENST00000481323.1_5'Flank|SNX5_ENST00000606557.1_5'Flank|MGME1_ENST00000377704.4_Missense_Mutation_p.M3V|SNX5_ENST00000377759.4_5'Flank|MGME1_ENST00000377710.5_Missense_Mutation_p.M3V|SNX5_ENST00000606602.1_5'Flank|SNX5_ENST00000486039.1_5'Flank	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5						intracellular protein transport (GO:0006886)|pinocytosis (GO:0006907)	cytoplasmic vesicle (GO:0031410)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|extrinsic component of endosome membrane (GO:0031313)|macropinocytic cup (GO:0070685)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						CTGAATGAAGATGAAGTTATT	0.408																																						uc002wqh.2																			0					0						c.(7-9)ATG>GTG		hypothetical protein LOC92667							52.0	52.0	52.0					20																	17950509		2203	4298	6501	SO:0001631	upstream_gene_variant	92667							g.chr20:17950509A>G	AF121855	CCDS13130.1	20p11	2008-05-22			ENSG00000089006	ENSG00000089006		"""Sorting nexins"""	14969	protein-coding gene	gene with protein product		605937				10600472, 17148574	Standard	NM_152227		Approved		uc002wqc.3	Q9Y5X3	OTTHUMG00000031953		20.37:g.17950509A>G	Exception_encountered					C20orf72_uc010gco.2_RNA|C20orf72_uc010gcp.2_5'Flank|SNX5_uc002wqc.2_5'Flank|SNX5_uc002wqd.2_5'Flank|SNX5_uc002wqe.2_5'Flank|SNX5_uc010zrt.1_5'Flank|SNX5_uc010gcn.1_5'Flank	p.M3V	NM_052865	NP_443097	Q9BQP7	CT072_HUMAN			2	89	+			3					B7ZKN3|D3DW26|Q52LC4|Q7KZN0|Q9BWP0	Missense_Mutation	SNP	ENST00000377768.3	37	c.7A>G	CCDS13130.1	.	.	.	.	.	.	.	.	.	.	A	17.54	3.415742	0.62511	.	.	ENSG00000125871	ENST00000377710;ENST00000377709;ENST00000377704	T;T;T	0.53206	0.86;0.63;0.63	5.67	5.67	0.87782	.	0.206689	0.64402	D	0.000014	T	0.65228	0.2671	M	0.68952	2.095	0.40816	D	0.98346	D	0.63880	0.993	D	0.68192	0.956	T	0.67377	-0.5686	10	0.48119	T	0.1	-30.2637	13.8729	0.63631	1.0:0.0:0.0:0.0	.	3	Q9BQP7	CT072_HUMAN	V	3	ENSP00000366939:M3V;ENSP00000366938:M3V;ENSP00000366933:M3V	ENSP00000366933:M3V	M	+	1	0	C20orf72	17898509	1.000000	0.71417	0.989000	0.46669	0.649000	0.38597	4.307000	0.59123	2.155000	0.67459	0.459000	0.35465	ATG		0.408	SNX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078137.4		
WFDC8	90199	broad.mit.edu	37	20	44184401	44184401	+	Silent	SNP	G	G	A	rs150100809	byFrequency	TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr20:44184401G>A	ENST00000357199.4	-	4	462	c.384C>T	c.(382-384)tgC>tgT	p.C128C	WFDC8_ENST00000289953.2_Silent_p.C128C	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	128	BPTI/Kunitz inhibitor. {ECO:0000255|PROSITE-ProRule:PRU00031}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				CATTCCCTTCGCAGCCCCTGT	0.468													G|||	2	0.000399361	0.0015	0.0	5008	,	,		19325	0.0		0.0	False		,,,				2504	0.0					uc002xow.2																			0					0						c.(382-384)TGC>TGT		WAP four-disulfide core domain 8 precursor		G	,	3,4403	6.2+/-15.9	0,3,2200	128.0	112.0	118.0		384,384	3.3	0.1	20	dbSNP_134	118	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	WFDC8	NM_130896.2,NM_181510.2	,	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	,	128/242,128/242	44184401	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	90199					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:44184401G>A	AL031663	CCDS13361.1	20q13.11	2013-01-21	2003-02-21	2003-02-21	ENSG00000158901	ENSG00000158901		"""WAP four-disulfide core domain containing"""	16163	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 170"""	C20orf170		12206714	Standard	NM_130896		Approved	dJ461P17.1, WAP8	uc002xow.3	Q8IUA0	OTTHUMG00000046342	ENST00000357199.4:c.384C>T	20.37:g.44184401G>A						WFDC8_uc002xox.2_Silent_p.C128C	p.C128C	NM_181510	NP_852611	Q8IUA0	WFDC8_HUMAN			4	463	-		Myeloproliferative disorder(115;0.0122)	128			BPTI/Kunitz inhibitor.		E1P623|Q5TDV2|Q96A34	Silent	SNP	ENST00000357199.4	37	c.384C>T	CCDS13361.1																																																																																				0.468	WFDC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106958.1		
MC3R	4159	broad.mit.edu	37	20	54824279	54824279	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr20:54824279C>T	ENST00000243911.2	+	1	492	c.380C>T	c.(379-381)tCc>tTc	p.S127F		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	127					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			ATCTGCATCTCCCTGGTGGCC	0.557																																						uc002xxb.2																			0				ovary(2)|breast(2)	4						c.(379-381)TCC>TTC		melanocortin 3 receptor							155.0	124.0	134.0					20																	54824279		2203	4300	6503	SO:0001583	missense	4159				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	g.chr20:54824279C>T		CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"""GPCR / Class A : Melanocortin receptors"""	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.380C>T	20.37:g.54824279C>T	ENSP00000243911:p.Ser127Phe						p.S127F	NM_019888	NP_063941	P41968	MC3R_HUMAN	Colorectal(105;0.202)		1	492	+			164			Helical; Name=3; (Potential).		Q4KN27|Q9H517	Missense_Mutation	SNP	ENST00000243911.2	37	c.380C>T	CCDS13449.2	.	.	.	.	.	.	.	.	.	.	C	23.5	4.428051	0.83667	.	.	ENSG00000124089	ENST00000243911	T	0.30714	1.52	4.98	4.98	0.66077	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000006	T	0.60766	0.2294	M	0.83384	2.64	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.67948	-0.5538	10	0.87932	D	0	.	17.857	0.88767	0.0:1.0:0.0:0.0	.	164	P41968	MC3R_HUMAN	F	127	ENSP00000243911:S127F	ENSP00000243911:S127F	S	+	2	0	MC3R	54257686	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.624000	0.83124	2.287000	0.76781	0.650000	0.86243	TCC		0.557	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2		
KRTAP24-1	643803	broad.mit.edu	37	21	31654689	31654689	+	Missense_Mutation	SNP	C	C	T	rs200135144		TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr21:31654689C>T	ENST00000340345.4	-	1	587	c.562G>A	c.(562-564)Gtc>Atc	p.V188I		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	188						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						AATGGTGAGACGTAGCTGGGT	0.418																																						uc002ynv.2																			0					0						c.(562-564)GTC>ATC		keratin associated protein 24-1							130.0	126.0	127.0					21																	31654689		1872	4106	5978	SO:0001583	missense	643803					keratin filament	structural molecule activity	g.chr21:31654689C>T	AB096935	CCDS42915.1	21q22.11	2007-11-23			ENSG00000188694	ENSG00000188694		"""Keratin associated proteins"""	33902	protein-coding gene	gene with protein product							Standard	NM_001085455		Approved	KAP24.1	uc002ynv.3	Q3LI83	OTTHUMG00000125483	ENST00000340345.4:c.562G>A	21.37:g.31654689C>T	ENSP00000339238:p.Val188Ile						p.V188I	NM_001085455	NP_001078924	Q3LI83	KR241_HUMAN			1	588	-			188					Q1XDX0	Missense_Mutation	SNP	ENST00000340345.4	37	c.562G>A	CCDS42915.1	.	.	.	.	.	.	.	.	.	.	c	0.016	-1.524270	0.00959	.	.	ENSG00000188694	ENST00000340345	T	0.03889	3.77	4.8	0.977	0.19733	.	0.648359	0.14303	N	0.328131	T	0.02083	0.0065	N	0.08118	0	0.09310	N	1	B	0.21688	0.059	B	0.17722	0.019	T	0.46247	-0.9205	10	0.25106	T	0.35	-4.483	2.1659	0.03837	0.5894:0.1668:0.09:0.1539	.	188	Q3LI83	KR241_HUMAN	I	188	ENSP00000339238:V188I	ENSP00000339238:V188I	V	-	1	0	KRTAP24-1	30576560	0.766000	0.28496	0.020000	0.16555	0.034000	0.12701	0.517000	0.22832	0.070000	0.16634	-1.971000	0.00464	GTC		0.418	KRTAP24-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246806.2	NM_001085455	
PRDM15	63977	broad.mit.edu	37	21	43281674	43281674	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr21:43281674G>A	ENST00000269844.3	-	7	999	c.889C>T	c.(889-891)Ccg>Tcg	p.P297S	PRDM15_ENST00000422911.1_Intron|PRDM15_ENST00000447207.2_5'Flank|PRDM15_ENST00000398548.1_Intron|PRDM15_ENST00000538201.1_Intron	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	297					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						GTGCGCACCGGCATGTCCTTC	0.532																																						uc002yzq.1																			0					0						c.(889-891)CCG>TCG		PR domain containing 15 isoform 1							96.0	80.0	85.0					21																	43281674		2203	4300	6503	SO:0001583	missense	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43281674G>A	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.889C>T	21.37:g.43281674G>A	ENSP00000269844:p.Pro297Ser					PRDM15_uc002yzo.2_Intron|PRDM15_uc002yzp.2_Intron|PRDM15_uc002yzr.1_Intron	p.P297S	NM_022115	NP_071398	P57071	PRD15_HUMAN			7	1000	-			297					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	37	c.889C>T	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	G	6.585	0.476265	0.12521	.	.	ENSG00000141956	ENST00000269844	T	0.07114	3.22	1.61	0.708	0.18144	.	.	.	.	.	T	0.05502	0.0145	N	0.22421	0.69	0.09310	N	1	B	0.12013	0.005	B	0.12837	0.008	T	0.37957	-0.9683	9	0.72032	D	0.01	.	4.1943	0.10437	0.2167:0.0:0.7833:0.0	.	297	P57071	PRD15_HUMAN	S	297	ENSP00000269844:P297S	ENSP00000269844:P297S	P	-	1	0	PRDM15	42154743	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.397000	0.20883	0.268000	0.21939	0.561000	0.74099	CCG		0.532	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115	
COL6A2	1292	broad.mit.edu	37	21	47546138	47546138	+	Silent	SNP	C	C	T			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr21:47546138C>T	ENST00000300527.4	+	26	2513	c.2409C>T	c.(2407-2409)gaC>gaT	p.D803D	COL6A2_ENST00000409416.1_Silent_p.D803D|COL6A2_ENST00000310645.5_Silent_p.D803D|COL6A2_ENST00000397763.1_Silent_p.D803D|COL6A2_ENST00000357838.4_Silent_p.D803D	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	803	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		ACATGGAGGACGTCCTCTGCC	0.647																																						uc002zia.1																			0				central_nervous_system(7)|ovary(1)	8						c.(2407-2409)GAC>GAT		alpha 2 type VI collagen isoform 2C2 precursor							136.0	136.0	136.0					21																	47546138		2203	4300	6503	SO:0001819	synonymous_variant	1292				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47546138C>T	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2409C>T	21.37:g.47546138C>T						COL6A2_uc002zhy.1_Silent_p.D803D|COL6A2_uc002zhz.1_Silent_p.D803D|COL6A2_uc002zib.1_Silent_p.D209D|COL6A2_uc002zic.1_5'Flank	p.D803D	NM_001849	NP_001840	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	26	2491	+	Breast(49;0.245)		803			VWFA 2.|Nonhelical region.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Silent	SNP	ENST00000300527.4	37	c.2409C>T	CCDS13728.1																																																																																				0.647	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1		
RIMBP3	85376	broad.mit.edu	37	22	20458331	20458331	+	Missense_Mutation	SNP	C	C	G	rs571676241		TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr22:20458331C>G	ENST00000426804.1	-	1	3455	c.2971G>C	c.(2971-2973)Gtg>Ctg	p.V991L	SCARNA18_ENST00000516215.1_RNA|RN7SKP131_ENST00000363006.1_RNA|SCARNA17_ENST00000516762.1_RNA	NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	991										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			ATACGGAGCACCCCTTTGGTC	0.602													c|||	1	0.000199681	0.0	0.0	5008	,	,		23014	0.0		0.001	False		,,,				2504	0.0					uc002zsd.3																			0					0						c.(2971-2973)GTG>CTG		RIMS binding protein 3							2.0	3.0	3.0					22																	20458331		1225	2960	4185	SO:0001583	missense	85376							g.chr22:20458331C>G	AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.2971G>C	22.37:g.20458331C>G	ENSP00000391564:p.Val991Leu						p.V991L	NM_015672	NP_056487			LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)		1	3456	-	Colorectal(54;0.0993)|Melanoma(16;0.165)							Q8IYP7|Q9BY94|Q9UFQ5	Missense_Mutation	SNP	ENST00000426804.1	37	c.2971G>C	CCDS46665.1	.	.	.	.	.	.	.	.	.	.	C	9.087	1.000837	0.19121	.	.	ENSG00000196622	ENST00000355186;ENST00000426804	T	0.21734	1.99	3.56	-1.96	0.07525	Fibronectin, type III (1);	0.851634	0.09877	N	0.744171	T	0.12689	0.0308	L	0.29908	0.895	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.31586	-0.9938	10	0.34782	T	0.22	0.0559	6.1469	0.20291	0.433:0.2359:0.3311:0.0	.	897	Q9UFD9	RIM3A_HUMAN	L	897;991	ENSP00000391564:V991L	ENSP00000347318:V897L	V	-	1	0	RIMBP3	18838331	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.106000	0.10890	-0.048000	0.13401	0.398000	0.26397	GTG		0.602	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318945.2	NM_015672	
PISD	23761	broad.mit.edu	37	22	32017352	32017352	+	Missense_Mutation	SNP	C	C	T	rs199747774		TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr22:32017352C>T	ENST00000439502.2	-	5	888	c.665G>A	c.(664-666)cGt>cAt	p.R222H	PISD_ENST00000336566.4_Missense_Mutation_p.R221H|PISD_ENST00000397500.1_Missense_Mutation_p.R188H|PISD_ENST00000266095.5_Missense_Mutation_p.R188H|PISD_ENST00000478893.1_5'UTR|PISD_ENST00000382151.2_Missense_Mutation_p.R188H			Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	222					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatidylserine decarboxylase activity (GO:0004609)			central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12					Phosphatidylserine(DB00144)	TGTGCACATACGCGGGCCCAG	0.627											OREG0003530	type=REGULATORY REGION|Gene=PISD|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc003alm.3																			0				central_nervous_system(2)|ovary(1)	3						c.(664-666)CGT>CAT		phosphatidylserine decarboxylase	Phosphatidylserine(DB00144)						82.0	78.0	80.0					22																	32017352		2203	4300	6503	SO:0001583	missense	23761				phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity	g.chr22:32017352C>T		CCDS13899.1	22q12.2	2011-01-25			ENSG00000241878	ENSG00000241878	4.1.1.65		8999	protein-coding gene	gene with protein product		612770				10591208	Standard	NM_014338		Approved	dJ858B16.2, PSDC	uc003alk.2	Q9UG56	OTTHUMG00000030252	ENST00000439502.2:c.665G>A	22.37:g.32017352C>T	ENSP00000391739:p.Arg222His		OREG0003530	type=REGULATORY REGION|Gene=PISD|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	829	PISD_uc003alk.2_Missense_Mutation_p.R188H|PISD_uc003all.2_Missense_Mutation_p.R187H|PISD_uc011alr.1_Missense_Mutation_p.R187H|PISD_uc003aln.3_Missense_Mutation_p.R222H	p.R222H	NM_014338	NP_055153	Q9UG56	PISD_HUMAN			5	672	-			222					B1AKM7|O43207|O95535|Q6IC28|Q96GQ2|Q9UGA9	Missense_Mutation	SNP	ENST00000439502.2	37	c.665G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.02|15.02	2.709641|2.709641	0.48517|0.48517	.|.	.|.	ENSG00000241878|ENSG00000241878	ENST00000382151;ENST00000266095;ENST00000397500;ENST00000439502;ENST00000336566;ENST00000451635;ENST00000422020|ENST00000435900	.|.	.|.	.|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	0.106594|.	0.64402|.	D|.	0.000003|.	T|T	0.34745|0.34745	0.0908|0.0908	N|N	0.05031|0.05031	-0.125|-0.125	0.51233|0.51233	D|D	0.99991|0.99991	B;B;B;B|.	0.19817|.	0.034;0.039;0.016;0.003|.	B;B;B;B|.	0.22386|.	0.039;0.038;0.01;0.005|.	T|T	0.24297|0.24297	-1.0164|-1.0164	9|5	0.41790|.	T|.	0.15|.	-28.1847|-28.1847	11.7396|11.7396	0.51786|0.51786	0.0:0.9195:0.0:0.0805|0.0:0.9195:0.0:0.0805	.|.	212;222;188;188|.	B1AJZ0;Q9UG56;B1AKM6;Q9UG56-2|.	.;PISD_HUMAN;.;.|.	H|I	188;188;188;222;221;188;188|213	.|.	ENSP00000266095:R188H|.	R|V	-|-	2|1	0|0	PISD|PISD	30347352|30347352	.|.	.|.	0.108000|0.108000	0.21378|0.21378	0.043000|0.043000	0.13939|0.13939	.|.	.|.	2.575000|2.575000	0.86900|0.86900	0.563000|0.563000	0.77884|0.77884	CGT|GTA		0.627	PISD-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000075106.4		
CAND2	23066	broad.mit.edu	37	3	12856870	12856870	+	Missense_Mutation	SNP	T	T	A			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr3:12856870T>A	ENST00000456430.2	+	8	1278	c.1237T>A	c.(1237-1239)Tgg>Agg	p.W413R	CAND2_ENST00000295989.5_Missense_Mutation_p.W320R	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	413					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CCCGAAGGGATGGCTGGAGGC	0.607																																					GBM(43;676 868 1633 6395 37496)	uc003bxk.2																			0				skin(3)|pancreas(1)	4						c.(1237-1239)TGG>AGG		TBP-interacting protein isoform 1							42.0	50.0	48.0					3																	12856870		2090	4204	6294	SO:0001583	missense	23066				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr3:12856870T>A		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"""TBP interacting protein"""	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.1237T>A	3.37:g.12856870T>A	ENSP00000387641:p.Trp413Arg					CAND2_uc003bxj.2_Missense_Mutation_p.W320R	p.W413R	NM_001162499	NP_001155971	O75155	CAND2_HUMAN			8	1286	+			413					B9EGM9|E9KL24	Missense_Mutation	SNP	ENST00000456430.2	37	c.1237T>A	CCDS54554.1	.	.	.	.	.	.	.	.	.	.	T	4.473	0.087619	0.08583	.	.	ENSG00000144712	ENST00000295989;ENST00000456430	T;T	0.63255	-0.03;-0.03	4.7	3.46	0.39613	Armadillo-like helical (1);Armadillo-type fold (1);	0.096227	0.46758	D	0.000268	T	0.59432	0.2193	N	0.20401	0.57	0.80722	D	1	B;D	0.64830	0.0;0.994	B;D	0.78314	0.002;0.991	T	0.53479	-0.8433	10	0.16420	T	0.52	-22.8013	8.3986	0.32572	0.1753:0.0:0.0:0.8246	.	413;320	O75155;O75155-2	CAND2_HUMAN;.	R	320;413	ENSP00000295989:W320R;ENSP00000387641:W413R	ENSP00000295989:W320R	W	+	1	0	CAND2	12831870	1.000000	0.71417	0.839000	0.33178	0.304000	0.27724	4.556000	0.60775	1.748000	0.51833	0.459000	0.35465	TGG		0.607	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617	
LRIG1	26018	broad.mit.edu	37	3	66455660	66455660	+	Silent	SNP	C	C	T			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr3:66455660C>T	ENST00000273261.3	-	9	1646	c.1122G>A	c.(1120-1122)acG>acA	p.T374T	LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000383703.3_Silent_p.T374T	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	374					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		AGGCGCCGCTCGTGTCCTCTA	0.612																																						uc003dmx.2																			0				skin(3)|ovary(2)	5						c.(1120-1122)ACG>ACA		leucine-rich repeats and immunoglobulin-like							106.0	90.0	96.0					3																	66455660		2203	4300	6503	SO:0001819	synonymous_variant	26018					integral to membrane		g.chr3:66455660C>T	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.1122G>A	3.37:g.66455660C>T						LRIG1_uc011bfu.1_5'Flank|LRIG1_uc003dmw.2_Silent_p.T40T|LRIG1_uc010hnz.2_Silent_p.T114T|LRIG1_uc010hoa.2_Silent_p.T374T	p.T374T	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	9	1136	-		Lung NSC(201;0.0101)	374			Extracellular (Potential).|LRR 13.		Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Silent	SNP	ENST00000273261.3	37	c.1122G>A	CCDS33783.1																																																																																				0.612	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541	
GPR15	2838	broad.mit.edu	37	3	98251885	98251885	+	Missense_Mutation	SNP	C	C	G			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr3:98251885C>G	ENST00000284311.3	+	1	1143	c.1008C>G	c.(1006-1008)caC>caG	p.H336Q		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	336					G-protein coupled receptor signaling pathway (GO:0007186)|T cell migration (GO:0072678)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		CAGATAGTCACCTCACTAAGG	0.483																																						uc011bgy.1																			0				ovary(1)	1						c.(1006-1008)CAC>CAG		G protein-coupled receptor 15							83.0	86.0	85.0					3																	98251885		2203	4300	6503	SO:0001583	missense	2838					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:98251885C>G		CCDS2931.1	3q11.2-q13.1	2014-01-30			ENSG00000154165	ENSG00000154165		"""GPCR / Class A : Orphans"""	4469	protein-coding gene	gene with protein product		601166				8838812	Standard	NM_005290		Approved		uc011bgy.3	P49685	OTTHUMG00000160017	ENST00000284311.3:c.1008C>G	3.37:g.98251885C>G	ENSP00000284311:p.His336Gln						p.H336Q	NM_005290	NP_005281	P49685	GPR15_HUMAN		Lung(72;0.246)	1	1008	+		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)	336			Cytoplasmic (Potential).		Q3MIL4|Q6ISN6	Missense_Mutation	SNP	ENST00000284311.3	37	c.1008C>G	CCDS2931.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.572006	0.28092	.	.	ENSG00000154165	ENST00000284311	T	0.65916	-0.18	5.08	2.35	0.29111	.	0.130267	0.34700	N	0.003753	T	0.55561	0.1928	N	0.24115	0.695	0.31171	N	0.703199	D	0.65815	0.995	P	0.57911	0.829	T	0.56038	-0.8045	10	0.27082	T	0.32	-16.2853	7.1408	0.25554	0.0:0.725:0.0:0.275	.	336	P49685	GPR15_HUMAN	Q	336	ENSP00000284311:H336Q	ENSP00000284311:H336Q	H	+	3	2	GPR15	99734575	0.997000	0.39634	0.995000	0.50966	0.937000	0.57800	1.076000	0.30729	0.423000	0.26033	-0.137000	0.14449	CAC		0.483	GPR15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358907.1		
PDLIM5	10611	broad.mit.edu	37	4	95575673	95575673	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr4:95575673G>A	ENST00000317968.4	+	10	1482	c.1346G>A	c.(1345-1347)tGc>tAc	p.C449Y	PDLIM5_ENST00000514743.1_Missense_Mutation_p.C478Y|PDLIM5_ENST00000380176.3_3'UTR|PDLIM5_ENST00000542407.1_Missense_Mutation_p.C327Y|PDLIM5_ENST00000437932.1_Missense_Mutation_p.C340Y	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	449	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		TGCGCTCACTGCAAAAATACA	0.448																																						uc003hti.2																			0				ovary(1)|skin(1)	2						c.(1345-1347)TGC>TAC		PDZ and LIM domain 5 isoform a							113.0	114.0	113.0					4																	95575673		2203	4300	6503	SO:0001583	missense	10611				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding	g.chr4:95575673G>A	AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.1346G>A	4.37:g.95575673G>A	ENSP00000321746:p.Cys449Tyr					PDLIM5_uc011cdx.1_Missense_Mutation_p.C346Y|PDLIM5_uc003hth.2_Missense_Mutation_p.C340Y|PDLIM5_uc003htj.2_Missense_Mutation_p.C124Y|PDLIM5_uc003htk.2_Missense_Mutation_p.C478Y|PDLIM5_uc011cdy.1_Missense_Mutation_p.C327Y|PDLIM5_uc003htl.2_Missense_Mutation_p.C124Y	p.C449Y	NM_006457	NP_006448	Q96HC4	PDLI5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)	10	1497	+		Hepatocellular(203;0.114)	449			LIM zinc-binding 1.		A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Missense_Mutation	SNP	ENST00000317968.4	37	c.1346G>A	CCDS3641.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.543798	0.86022	.	.	ENSG00000163110	ENST00000437932;ENST00000317968;ENST00000503974;ENST00000542407;ENST00000514743	D;D;D;D;D	0.99898	-7.61;-7.61;-7.61;-7.61;-7.61	5.86	5.86	0.93980	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.99941	0.9974	H	0.99225	4.475	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.999	D	0.96134	0.9095	10	0.87932	D	0	.	20.1813	0.98205	0.0:0.0:1.0:0.0	.	346;478;449;340	E9PBF5;D6RB78;Q96HC4;Q96HC4-4	.;.;PDLI5_HUMAN;.	Y	340;449;346;327;478	ENSP00000398469:C340Y;ENSP00000321746:C449Y;ENSP00000424297:C346Y;ENSP00000442187:C327Y;ENSP00000424360:C478Y	ENSP00000321746:C449Y	C	+	2	0	PDLIM5	95794696	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.864000	0.99589	2.763000	0.94921	0.585000	0.79938	TGC		0.448	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253586.1		
TENM3	55714	broad.mit.edu	37	4	183710311	183710311	+	Silent	SNP	C	C	T	rs576293347	byFrequency	TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr4:183710311C>T	ENST00000511685.1	+	25	5493	c.5370C>T	c.(5368-5370)gaC>gaT	p.D1790D	TENM3_ENST00000406950.2_Silent_p.D1790D			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1790					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										AGATCTATGACGACCACCGTA	0.448													C|||	2	0.000399361	0.0	0.0	5008	,	,		17932	0.001		0.0	False		,,,				2504	0.001					uc003ivd.1																			0					0						c.(5368-5370)GAC>GAT		odz, odd Oz/ten-m homolog 3							37.0	36.0	36.0					4																	183710311		1904	4131	6035	SO:0001819	synonymous_variant	55714				signal transduction	integral to membrane		g.chr4:183710311C>T	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.5370C>T	4.37:g.183710311C>T							p.D1790D	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	24	5407	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	1790			Extracellular (Potential).		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	ENST00000511685.1	37	c.5370C>T	CCDS47165.1																																																																																				0.448	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1		
SLC12A7	10723	broad.mit.edu	37	5	1085433	1085433	+	Silent	SNP	C	C	T	rs112522540		TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr5:1085433C>T	ENST00000264930.5	-	7	874	c.831G>A	c.(829-831)gcG>gcA	p.A277A		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	277					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)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GGAAGACCAGCGCCAGCTTGT	0.637													c|||	1	0.000199681	0.0008	0.0	5008	,	,		15516	0.0		0.0	False		,,,				2504	0.0					uc003jbu.2																			0				skin(2)|large_intestine(1)|ovary(1)	4						c.(829-831)GCG>GCA		solute carrier family 12 (potassium/chloride	Potassium Chloride(DB00761)						96.0	69.0	78.0					5																	1085433		2197	4298	6495	SO:0001819	synonymous_variant	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1085433C>T	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.831G>A	5.37:g.1085433C>T							p.A277A	NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		7	897	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		277			Helical; (Potential).		A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Silent	SNP	ENST00000264930.5	37	c.831G>A	CCDS34129.1																																																																																				0.637	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598	
JMY	133746	broad.mit.edu	37	5	78533329	78533329	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr5:78533329T>C	ENST00000396137.4	+	1	1318	c.856T>C	c.(856-858)Tgt>Cgt	p.C286R	DMGDH_ENST00000520388.1_5'Flank	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	286					'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CGACACTCTGTGTTACCAGCT	0.632																																						uc003kfx.3																			0					0						c.(856-858)TGT>CGT		junction-mediating and regulatory protein							75.0	82.0	80.0					5																	78533329		1993	4160	6153	SO:0001583	missense	133746				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity	g.chr5:78533329T>C	AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.856T>C	5.37:g.78533329T>C	ENSP00000379441:p.Cys286Arg						p.C286R	NM_152405	NP_689618	Q8N9B5	JMY_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)	1	1376	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	286					A1L4P5|B5MDS2|B5MDT0	Missense_Mutation	SNP	ENST00000396137.4	37	c.856T>C	CCDS4047.3	.	.	.	.	.	.	.	.	.	.	T	17.71	3.457011	0.63401	.	.	ENSG00000152409	ENST00000282259;ENST00000396137	T	0.11712	2.75	5.12	3.96	0.45880	.	0.065016	0.64402	U	0.000007	T	0.14570	0.0352	M	0.78049	2.395	0.80722	D	1	B	0.17667	0.023	B	0.16722	0.016	T	0.03017	-1.1082	10	0.87932	D	0	.	6.9127	0.24344	0.0:0.0771:0.1499:0.773	.	286	Q8N9B5	JMY_HUMAN	R	286	ENSP00000379441:C286R	ENSP00000282259:C286R	C	+	1	0	JMY	78569085	1.000000	0.71417	0.997000	0.53966	0.705000	0.40729	5.684000	0.68197	0.797000	0.33971	0.460000	0.39030	TGT		0.632	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254070.4	NM_152405	
EGR1	1958	broad.mit.edu	37	5	137801566	137801568	+	In_Frame_Del	DEL	TGC	TGC	-	rs538748263|rs577004119		TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr5:137801566_137801568delTGC	ENST00000239938.4	+	1	388_390	c.116_118delTGC	c.(115-120)atgctg>atg	p.L41del		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	41					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GAGGAGATGATGCTGCTGAGCAA	0.67																																						uc003ldb.1																			0				ovary(1)	1						c.(115-120)ATGCTG>ATG		early growth response 1																																				SO:0001651	inframe_deletion	1958				cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:137801566_137801568delTGC	M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"""Zinc fingers, C2H2-type"""	3238	protein-coding gene	gene with protein product	"""nerve growth factor-induced protein A"", ""transcription factor ETR103"", ""zinc finger protein 225"", ""early growth response protein 1"""	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.116_118delTGC	5.37:g.137801569_137801571delTGC	ENSP00000239938:p.Leu41del					EGR1_uc011cyu.1_In_Frame_Del_p.L41del	p.L41del	NM_001964	NP_001955	P18146	EGR1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		1	386_388	+			41						In_Frame_Del	DEL	ENST00000239938.4	37	c.116_118delTGC	CCDS4206.1																																																																																				0.670	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964	
MED7	9443	broad.mit.edu	37	5	156566183	156566183	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr5:156566183A>G	ENST00000286317.5	-	2	641	c.260T>C	c.(259-261)aTt>aCt	p.I87T	MED7_ENST00000420343.1_Missense_Mutation_p.I87T	NM_004270.4	NP_004261.1	O43513	MED7_HUMAN	mediator complex subunit 7	87					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)			kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2)	7	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAAGAAATTAATAAGGATAGA	0.378																																						uc010jik.2																			0					0						c.(259-261)ATT>ACT		mediator complex subunit 7							53.0	58.0	56.0					5																	156566183		2201	4298	6499	SO:0001583	missense	9443				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	protein binding|transcription coactivator activity	g.chr5:156566183A>G	AF104251	CCDS4334.1	5q33.3	2008-02-05	2007-07-30	2007-07-30	ENSG00000155868	ENSG00000155868			2378	protein-coding gene	gene with protein product		605045	"""cofactor required for Sp1 transcriptional activation, subunit 9, 33kDa"""	CRSP9		9989412	Standard	NM_004270		Approved	CRSP33	uc003lwm.4	O43513	OTTHUMG00000130243	ENST00000286317.5:c.260T>C	5.37:g.156566183A>G	ENSP00000286317:p.Ile87Thr					MED7_uc003lwm.3_Missense_Mutation_p.I87T	p.I87T	NM_001100816	NP_001094286	O43513	MED7_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	652	-	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	87						Missense_Mutation	SNP	ENST00000286317.5	37	c.260T>C	CCDS4334.1	.	.	.	.	.	.	.	.	.	.	A	14.23	2.473215	0.43942	.	.	ENSG00000155868	ENST00000286317;ENST00000420343;ENST00000524289	.	.	.	5.91	4.74	0.60224	.	0.112881	0.64402	D	0.000014	T	0.43612	0.1255	N	0.22421	0.69	0.41796	D	0.989898	B	0.02656	0.0	B	0.10450	0.005	T	0.27773	-1.0064	9	0.44086	T	0.13	-38.6238	11.9911	0.53176	0.9327:0.0:0.0673:0.0	.	87	O43513	MED7_HUMAN	T	87	.	ENSP00000286317:I87T	I	-	2	0	MED7	156498761	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.253000	0.78320	1.056000	0.40484	0.533000	0.62120	ATT		0.378	MED7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252567.2	NM_004270	
SQSTM1	8878	broad.mit.edu	37	5	179260112	179260114	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr5:179260112_179260114delGAG	ENST00000389805.4	+	6	1013_1015	c.835_837delGAG	c.(835-837)gagdel	p.E280del	SQSTM1_ENST00000360718.5_In_Frame_Del_p.E196del|SQSTM1_ENST00000510187.1_In_Frame_Del_p.E280del|SQSTM1_ENST00000376929.3_In_Frame_Del_p.E196del|SQSTM1_ENST00000402874.3_In_Frame_Del_p.E196del	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	280	Interaction with NTRK1. {ECO:0000250}.|Ser-rich.				apoptotic signaling pathway (GO:0097190)|autophagy (GO:0006914)|cell differentiation (GO:0030154)|endosomal transport (GO:0016197)|immune system process (GO:0002376)|intracellular signal transduction (GO:0035556)|macroautophagy (GO:0016236)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein heterooligomerization (GO:0051291)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of Ras protein signal transduction (GO:0046578)|response to stress (GO:0006950)|ubiquitin-dependent protein catabolic process (GO:0006511)	aggresome (GO:0016235)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|lysosome (GO:0005764)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|pre-autophagosomal structure (GO:0000407)	identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|receptor tyrosine kinase binding (GO:0030971)|SH2 domain binding (GO:0042169)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCCAGCACAGAGGAGAAGAGCA	0.596																																						uc003mkw.3																		SQSTM1/ALK(2)	0				haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3						c.(835-837)GAGdel		sequestosome 1 isoform 1			,,	6,4258		1,4,2127					,,	-10.0	0.0			48	8,8246		4,0,4123	no	coding,coding,coding	SQSTM1	NM_003900.4,NM_001142299.1,NM_001142298.1	,,	5,4,6250	A1A1,A1R,RR		0.0969,0.1407,0.1118	,,	,,		14,12504				SO:0001651	inframe_deletion	8878	Paget_Disease_of_Bone			anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding	g.chr5:179260112_179260114delGAG	U46751	CCDS34317.1, CCDS47355.1	5q35	2008-02-05	2004-04-15		ENSG00000161011	ENSG00000161011			11280	protein-coding gene	gene with protein product		601530	"""Paget disease of bone 3"", ""oxidative stress induced like"""	PDB3, OSIL		8650207, 8551575	Standard	NM_003900		Approved	p62, p60, p62B, A170	uc003mkw.4	Q13501	OTTHUMG00000150643	ENST00000389805.4:c.835_837delGAG	5.37:g.179260115_179260117delGAG	ENSP00000374455:p.Glu280del					SQSTM1_uc011dgr.1_In_Frame_Del_p.E196del|SQSTM1_uc011dgs.1_In_Frame_Del_p.E196del|SQSTM1_uc003mkv.3_In_Frame_Del_p.E280del|SQSTM1_uc003mkx.2_In_Frame_Del_p.E196del	p.E280del	NM_003900	NP_003891	Q13501	SQSTM_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	930_932	+	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	280			Interaction with NTRK1 (By similarity).|Ser-rich.		A6NFN7|B2R661|B3KUW5|Q13446|Q9BUV7|Q9BVS6|Q9UEU1	In_Frame_Del	DEL	ENST00000389805.4	37	c.835_837delGAG	CCDS34317.1																																																																																				0.596	SQSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319344.1		
HSP90AB1	3326	broad.mit.edu	37	6	44217828	44217828	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr6:44217828G>C	ENST00000371554.1	+	5	799	c.585G>C	c.(583-585)gaG>gaC	p.E195D	HSP90AB1_ENST00000353801.3_Missense_Mutation_p.E195D|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.E195D			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	195					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACCTAGAAGAGAGGCGGGTCA	0.428																																						uc003oxa.1																			0				lung(3)|breast(1)	4						c.(583-585)GAG>GAC		heat shock 90kDa protein 1, beta							98.0	101.0	100.0					6																	44217828		2203	4300	6503	SO:0001583	missense	3326				axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding	g.chr6:44217828G>C	AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"""Heat shock proteins / HSPC"""	5258	protein-coding gene	gene with protein product		140572	"""heat shock 90kD protein 1, beta"", ""heat shock 90kDa protein 1, beta"""	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.585G>C	6.37:g.44217828G>C	ENSP00000360609:p.Glu195Asp					HSP90AB1_uc011dvr.1_Missense_Mutation_p.E185D|HSP90AB1_uc003oxb.1_Missense_Mutation_p.E195D|HSP90AB1_uc011dvs.1_Missense_Mutation_p.E15D|HSP90AB1_uc003oxc.1_5'UTR	p.E195D	NM_007355	NP_031381	P08238	HS90B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		5	669	+	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		195					B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Missense_Mutation	SNP	ENST00000371554.1	37	c.585G>C	CCDS4909.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.480261	0.44044	.	.	ENSG00000096384	ENST00000441736;ENST00000371646;ENST00000353801;ENST00000371554	T;T;T	0.11821	2.74;2.74;2.74	4.49	0.561	0.17285	Heat shock protein Hsp90, N-terminal (1);ATPase-like, ATP-binding domain (2);	0.074396	0.52532	U	0.000072	T	0.11024	0.0269	M	0.89658	3.05	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.21151	0.033;0.001;0.002	T	0.04440	-1.0951	10	0.66056	D	0.02	-24.9371	9.6222	0.39727	0.3686:0.0:0.6314:0.0	.	157;185;195	B4DMA2;B4DGL0;P08238	.;.;HS90B_HUMAN	D	147;195;195;195	ENSP00000360709:E195D;ENSP00000325875:E195D;ENSP00000360609:E195D	ENSP00000325875:E195D	E	+	3	2	HSP90AB1	44325806	1.000000	0.71417	0.990000	0.47175	0.891000	0.51852	0.651000	0.24873	0.041000	0.15688	-0.252000	0.11476	GAG		0.428	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355	
GSTA4	2941	broad.mit.edu	37	6	52850376	52850376	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr6:52850376G>A	ENST00000370959.1	-	4	262	c.145C>T	c.(145-147)Cac>Tac	p.H49Y	GSTA4_ENST00000370960.1_Intron|GSTA4_ENST00000486559.1_5'UTR|GSTA4_ENST00000541324.1_5'UTR			O15217	GSTA4_HUMAN	glutathione S-transferase alpha 4	49	GST N-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)			endometrium(1)|lung(3)|skin(2)|urinary_tract(1)	7	Lung NSC(77;0.103)				Glutathione(DB00143)	AACAGCAGGTGGTTACCTGAG	0.458																																						uc003pbc.2																			0					0						c.(145-147)CAC>TAC		glutathione S-transferase alpha 4	Glutathione(DB00143)						132.0	121.0	124.0					6																	52850376		2203	4300	6503	SO:0001583	missense	2941				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity|protein homodimerization activity	g.chr6:52850376G>A	AF020918	CCDS4948.1	6p12.2	2012-06-21	2008-11-26		ENSG00000170899	ENSG00000170899	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4629	protein-coding gene	gene with protein product		605450	"""glutathione S-transferase A4"""			9480897	Standard	NM_001512		Approved		uc003pbf.3	O15217	OTTHUMG00000014868	ENST00000370959.1:c.145C>T	6.37:g.52850376G>A	ENSP00000359998:p.His49Tyr					GSTA4_uc003pbd.2_5'UTR|GSTA4_uc003pbe.2_Intron|GSTA4_uc003pbf.2_Missense_Mutation_p.H49Y	p.H49Y	NM_001512	NP_001503	O15217	GSTA4_HUMAN			3	209	-	Lung NSC(77;0.103)		49			GST N-terminal.		B2RD15|Q5T7Q8|Q6P4G1|Q9BX18|Q9H414	Missense_Mutation	SNP	ENST00000370959.1	37	c.145C>T	CCDS4948.1	.	.	.	.	.	.	.	.	.	.	G	3.847	-0.032706	0.07543	.	.	ENSG00000170899	ENST00000370963;ENST00000370959	T;T	0.06528	3.29;3.29	5.36	3.47	0.39725	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.381288	0.29692	N	0.011459	T	0.01061	0.0035	N	0.25647	0.755	0.80722	D	1	B	0.12630	0.006	B	0.06405	0.002	T	0.47649	-0.9101	10	0.02654	T	1	-8.6722	3.3622	0.07190	0.1725:0.0:0.585:0.2426	.	49	O15217	GSTA4_HUMAN	Y	49	ENSP00000360002:H49Y;ENSP00000359998:H49Y	ENSP00000359998:H49Y	H	-	1	0	GSTA4	52958335	0.384000	0.25164	1.000000	0.80357	0.971000	0.66376	0.249000	0.18216	2.658000	0.90341	0.655000	0.94253	CAC		0.458	GSTA4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040946.1	NM_001512	
PHF3	23469	broad.mit.edu	37	6	64416078	64416078	+	Missense_Mutation	SNP	A	A	T			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr6:64416078A>T	ENST00000262043.3	+	12	3867	c.3527A>T	c.(3526-3528)cAg>cTg	p.Q1176L	PHF3_ENST00000393387.1_Missense_Mutation_p.Q1176L			Q92576	PHF3_HUMAN	PHD finger protein 3	1176					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GAGGAGAAACAGGAGTCTCCA	0.378																																					GBM(135;136 1820 29512 34071 46235)	uc003pep.1																			0				ovary(3)|lung(1)|skin(1)	5						c.(3526-3528)CAG>CTG		PHD finger protein 3							83.0	78.0	79.0					6																	64416078		2203	4300	6503	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64416078A>T	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.3527A>T	6.37:g.64416078A>T	ENSP00000262043:p.Gln1176Leu					PHF3_uc010kah.1_Missense_Mutation_p.Q990L|PHF3_uc003pen.2_Missense_Mutation_p.Q1088L|PHF3_uc011dxs.1_Missense_Mutation_p.Q445L	p.Q1176L	NM_015153	NP_055968	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		11	3553	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		1176					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.3527A>T	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	A	13.96	2.393774	0.42410	.	.	ENSG00000118482	ENST00000506783;ENST00000515594;ENST00000262043;ENST00000393387	T;T;T;T	0.48522	2.09;0.81;2.1;2.1	5.79	5.79	0.91817	.	0.000000	0.34676	N	0.003766	T	0.56746	0.2006	L	0.54323	1.7	0.58432	D	0.999991	D	0.76494	0.999	D	0.78314	0.991	T	0.58769	-0.7578	10	0.51188	T	0.08	-12.7372	16.1376	0.81497	1.0:0.0:0.0:0.0	.	1176	Q92576	PHF3_HUMAN	L	990;445;1176;1176	ENSP00000424694:Q990L;ENSP00000425338:Q445L;ENSP00000262043:Q1176L;ENSP00000377048:Q1176L	ENSP00000262043:Q1176L	Q	+	2	0	PHF3	64474037	1.000000	0.71417	0.999000	0.59377	0.894000	0.52154	4.928000	0.63447	2.212000	0.71576	0.533000	0.62120	CAG		0.378	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2		
EZR	7430	broad.mit.edu	37	6	159210403	159210403	+	Splice_Site	SNP	T	T	C			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr6:159210403T>C	ENST00000367075.3	-	3	181	c.13A>G	c.(13-15)Atc>Gtc	p.I5V	EZR_ENST00000337147.7_Splice_Site_p.I5V|EZR_ENST00000476189.1_5'UTR|EZR_ENST00000392177.4_Splice_Site_p.I5V	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	5	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of endothelial barrier (GO:0061028)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|filopodium assembly (GO:0046847)|leukocyte cell-cell adhesion (GO:0007159)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|receptor internalization (GO:0031623)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|astrocyte projection (GO:0097449)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell tip (GO:0051286)|ciliary basal body (GO:0036064)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|microspike (GO:0044393)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|Schwann cell microvillus (GO:0097454)|T-tubule (GO:0030315)|uropod (GO:0001931)|vesicle (GO:0031982)	actin filament binding (GO:0051015)|cell adhesion molecule binding (GO:0050839)|poly(A) RNA binding (GO:0044822)		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		CGGACATTGATCTGAAAAACA	0.428			T	ROS1	NSCLC																																	uc003qrt.3				Dom	yes		6	6q25.3	7430		ezrin			E					0				ovary(1)	1						c.(13-15)ATC>GTC		ezrin							102.0	92.0	96.0					6																	159210403		2203	4300	6503	SO:0001630	splice_region_variant	7430				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding	g.chr6:159210403T>C	AF187552	CCDS5258.1	6q25.3	2010-12-10	2007-11-29	2007-11-29	ENSG00000092820	ENSG00000092820		"""A-kinase anchor proteins"""	12691	protein-coding gene	gene with protein product	"""cytovillin 2"""	123900	"""villin 2 (ezrin)"""	VIL2			Standard	NM_003379		Approved		uc003qrt.4	P15311	OTTHUMG00000015917	ENST00000367075.3:c.13-1A>G	6.37:g.159210403T>C						EZR_uc011efs.1_Missense_Mutation_p.I5V|EZR_uc003qru.3_Missense_Mutation_p.I5V	p.I5V	NM_003379	NP_003370	P15311	EZRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)	2	228	-		Breast(66;0.000776)|Ovarian(120;0.0303)	5			FERM.		E1P5A8|P23714|Q4VX75|Q96CU8|Q9NSJ4	Missense_Mutation	SNP	ENST00000367075.3	37	c.13A>G	CCDS5258.1	.	.	.	.	.	.	.	.	.	.	T	10.83	1.460666	0.26248	.	.	ENSG00000092820	ENST00000337147;ENST00000367075;ENST00000392177	T;T;T	0.75938	-0.98;-0.98;-0.98	4.67	4.67	0.58626	Band 4.1 domain (1);FERM domain (1);	0.218041	0.47455	D	0.000231	T	0.42245	0.1194	N	0.25426	0.745	0.54753	D	0.999981	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.001	T	0.43393	-0.9394	10	0.27785	T	0.31	.	7.3962	0.26938	0.0:0.1644:0.0:0.8356	.	5;5	E7EQR4;P15311	.;EZRI_HUMAN	V	5	ENSP00000338934:I5V;ENSP00000356042:I5V;ENSP00000376016:I5V	ENSP00000338934:I5V	I	-	1	0	EZR	159130391	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.039000	0.30266	2.074000	0.62210	0.454000	0.30748	ATC		0.428	EZR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042878.1	NM_003379	Missense_Mutation
MLLT4	4301	broad.mit.edu	37	6	168343837	168343837	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr6:168343837A>G	ENST00000447894.2	+	23	3107	c.3107A>G	c.(3106-3108)tAt>tGt	p.Y1036C	MLLT4_ENST00000344191.4_Missense_Mutation_p.Y1036C|MLLT4_ENST00000351017.4_Missense_Mutation_p.Y1043C|MLLT4_ENST00000507679.1_3'UTR|MLLT4_ENST00000392108.3_Missense_Mutation_p.Y1036C|MLLT4_ENST00000366806.2_Missense_Mutation_p.Y1036C|MLLT4_ENST00000392112.1_Missense_Mutation_p.Y1020C|MLLT4_ENST00000400822.3_Missense_Mutation_p.Y1035C			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1036	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CTAGGAATCTATGTGAAGTCG	0.373			T	MLL	AL																																	uc003qwd.2				Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		0				ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5						c.(3103-3105)TAT>TGT		myeloid/lymphoid or mixed-lineage leukemia							178.0	161.0	167.0					6																	168343837		2203	4300	6503	SO:0001583	missense	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168343837A>G	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.3107A>G	6.37:g.168343837A>G	ENSP00000404595:p.Tyr1036Cys					MLLT4_uc003qwb.1_Missense_Mutation_p.Y1020C|MLLT4_uc003qwc.1_Missense_Mutation_p.Y1036C|MLLT4_uc003qwg.1_Missense_Mutation_p.Y345C	p.Y1035C	NM_001040001	NP_001035090	P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	23	3246	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	1036			PDZ.		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37	c.3104A>G		.	.	.	.	.	.	.	.	.	.	A	22.5	4.300305	0.81136	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53	5.18	5.18	0.71444	PDZ/DHR/GLGF (4);	0.000000	0.64402	D	0.000001	T	0.58148	0.2102	M	0.92784	3.345	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.999	T	0.71104	-0.4689	10	0.87932	D	0	-8.0093	15.0548	0.71904	1.0:0.0:0.0:0.0	.	1036;1035;1036;1020	P55196;P55196-5;P55196-6;P55196-2	AFAD_HUMAN;.;.;.	C	1036;1043;1036;1036;1020;1036;1035;1036	ENSP00000341118:Y1036C;ENSP00000252692:Y1043C;ENSP00000375956:Y1036C;ENSP00000355771:Y1036C;ENSP00000375960:Y1020C;ENSP00000383623:Y1035C;ENSP00000404595:Y1036C	ENSP00000345834:Y1036C	Y	+	2	0	MLLT4	168086686	1.000000	0.71417	0.983000	0.44433	0.978000	0.69477	8.558000	0.90704	1.954000	0.56735	0.528000	0.53228	TAT		0.373	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936	
EGFR	1956	broad.mit.edu	37	7	55249002	55249003	+	In_Frame_Ins	INS	-	-	CAGCGTGGA	rs397517107|rs397517109		TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr7:55249002_55249003insCAGCGTGGA	ENST00000275493.2	+	20	2477_2478	c.2300_2301insCAGCGTGGA	c.(2299-2304)gccagc>gcCAGCGTGGAcagc	p.768_769insVDS	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_In_Frame_Ins_p.723_724insVDS|EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000454757.2_In_Frame_Ins_p.715_716insVDS	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	768	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		S -> I (found in a lung cancer sample; constitutively activated kinase with higher levels of basal autophosphorylation; more sensitive to gefitinib than wild-type; dbSNP:rs121913465). {ECO:0000269|PubMed:15623594}.|V -> M (found in a lung cancer sample; dbSNP:rs147149347). {ECO:0000269|PubMed:15623594}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.A767V(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TACGTGATGGCCAGCGTGGACA	0.649		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		3	Substitution - Missense(3)	p.D770_N771insSVD(21)|p.V769_D770insASV(20)|p.D770_N771insG(6)|p.D770>GY(3)|p.V769_D770insMASVD(2)|p.A767V(2)|p.V769_D770insGVV(2)|p.V769_D770insCV(1)|p.D770N(1)|p.D770_N771insGD(1)|p.D770_N771>AGG(1)|p.D770_N771insGL(1)|p.D770fs*61(1)|p.D770_P772>ASVDNR(1)|p.D770_N771insD(1)|p.V769_D770insGSV(1)|p.D770_N771insN(1)|p.V769_D770insDNV(1)|p.D770_N771insAPW(1)|p.D770_N771insSVP(1)|p.D770_N771insSVQ(1)|p.D770>GF(1)|p.D770_N771insMATP(1)|p.D770_N771insDG(1)|p.D770_N771insNPH(1)|p.V769_D770insGV(1)	eye(1)|stomach(1)|lung(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(2299-2301)GCC>GCCAGCGTGGAC		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)																																			SO:0001652	inframe_insertion	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55249002_55249003insCAGCGTGGA		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2301_2309dupCAGCGTGGA	7.37:g.55249003_55249011dupCAGCGTGGA	ENSP00000275493:p.Ser768_Val769insValAspSer	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc010kzg.1_In_Frame_Ins_p.725_726insSVD|EGFR_uc011kco.1_In_Frame_Ins_p.717_718insSVD|uc003tqo.2_RNA	p.770_771insSVD	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		20	2546_2547	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		770_771			Cytoplasmic (Potential).|Protein kinase.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	In_Frame_Ins	INS	ENST00000275493.2	37	c.2300_2301insCAGCGTGGA	CCDS5514.1																																																																																				0.649	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
CYP3A5	1577	broad.mit.edu	37	7	99277452	99277452	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr7:99277452T>C	ENST00000222982.4	-	1	167	c.68A>G	c.(67-69)tAt>tGt	p.Y23C	CYP3A5_ENST00000439761.1_Missense_Mutation_p.Y23C|CYP3A5_ENST00000343703.5_5'UTR|CYP3A5_ENST00000339843.2_Missense_Mutation_p.Y23C|CYP3A5_ENST00000480723.1_5'UTR	NM_000777.3	NP_000768.1	P20815	CP3A5_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 5	23					alkaloid catabolic process (GO:0009822)|drug catabolic process (GO:0042737)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)				ado-trastuzumab emtansine(DB05773)|Alfentanil(DB00802)|Alprazolam(DB00404)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Artemether(DB06697)|Astemizole(DB00637)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Beclomethasone(DB00394)|Boceprevir(DB08873)|Brentuximab vedotin(DB08870)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clonidine(DB00575)|Clopidogrel(DB00758)|Cocaine(DB00907)|Codeine(DB00318)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diltiazem(DB00343)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Dutasteride(DB01126)|Enzalutamide(DB08899)|Eplerenone(DB00700)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Ethosuximide(DB00593)|Etoposide(DB00773)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gestodene(DB06730)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Losartan(DB00678)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Modafinil(DB00745)|Mycophenolate mofetil(DB00688)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Pentamidine(DB00738)|Perampanel(DB08883)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rosuvastatin(DB01098)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Teniposide(DB00444)|Testosterone(DB00624)|Thalidomide(DB01041)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vardenafil(DB00862)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	TACTCACAGATAGAGGAGCAC	0.488																																						uc003urq.2																			0					0						c.(67-69)TAT>TGT		cytochrome P450, family 3, subfamily A,	Alfentanil(DB00802)|Clopidogrel(DB00758)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Indinavir(DB00224)|Irinotecan(DB00762)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Mephenytoin(DB00532)|Midazolam(DB00683)|Mifepristone(DB00834)|Phenytoin(DB00252)|Quinine(DB00468)|Saquinavir(DB01232)|Tacrolimus(DB00864)|Troleandomycin(DB01361)|Verapamil(DB00661)|Vincristine(DB00541)						127.0	118.0	121.0					7																	99277452		2203	4300	6503	SO:0001583	missense	1577				alkaloid catabolic process|drug catabolic process|oxidative demethylation|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr7:99277452T>C	L26985	CCDS5672.1, CCDS55134.1	7q21.1	2007-12-14	2003-01-14		ENSG00000106258	ENSG00000106258		"""Cytochrome P450s"""	2638	protein-coding gene	gene with protein product		605325	"""cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 5"""				Standard	NR_033808		Approved	PCN3, P450PCN3, CP35		P20815	OTTHUMG00000156724	ENST00000222982.4:c.68A>G	7.37:g.99277452T>C	ENSP00000222982:p.Tyr23Cys					ZNF498_uc003urn.2_Intron|CYP3A5_uc003urr.2_5'UTR|CYP3A5_uc011kiy.1_5'UTR|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron|CYP3A5_uc003urt.2_Missense_Mutation_p.Y23C	p.Y23C	NM_000777	NP_000768	P20815	CP3A5_HUMAN			1	155	-	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)		23					A4D289|B7Z5I7|Q53WY8|Q75MV0|Q9HB56	Missense_Mutation	SNP	ENST00000222982.4	37	c.68A>G	CCDS5672.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.121358	0.77436	.	.	ENSG00000106258	ENST00000222982;ENST00000339843;ENST00000439761	T;T;T	0.24908	1.83;1.83;1.83	2.67	2.67	0.31697	.	0.600016	0.16483	N	0.212451	T	0.41811	0.1175	L	0.58428	1.81	0.23132	N	0.998245	D;D	0.89917	1.0;0.997	D;P	0.79784	0.993;0.894	T	0.08066	-1.0740	10	0.87932	D	0	.	7.073	0.25189	0.0:0.0:0.0:1.0	.	23;23	B7Z5I7;P20815	.;CP3A5_HUMAN	C	23	ENSP00000222982:Y23C;ENSP00000343074:Y23C;ENSP00000401269:Y23C	ENSP00000222982:Y23C	Y	-	2	0	CYP3A5	99115388	0.616000	0.27035	0.942000	0.38095	0.820000	0.46376	2.791000	0.47829	1.214000	0.43395	0.260000	0.18958	TAT		0.488	CYP3A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345469.1		
DOCK5	80005	broad.mit.edu	37	8	25232155	25232155	+	Silent	SNP	C	C	T			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr8:25232155C>T	ENST00000276440.7	+	37	3845	c.3801C>T	c.(3799-3801)caC>caT	p.H1267H		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1267	DHR-2.				positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TTCTCTTGCACGCTGAGCTTC	0.463																																					Pancreas(145;34 1887 3271 10937 30165)	uc003xeg.2																			0				ovary(3)	3						c.(3799-3801)CAC>CAT		dedicator of cytokinesis 5							201.0	176.0	184.0					8																	25232155		2203	4300	6503	SO:0001819	synonymous_variant	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25232155C>T		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.3801C>T	8.37:g.25232155C>T						DOCK5_uc003xeh.1_Silent_p.H981H|PPP2R2A_uc003xek.2_Silent_p.H56H|DOCK5_uc003xei.2_Silent_p.H837H|DOCK5_uc003xej.2_RNA	p.H1267H	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	37	3938	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	1267			DHR-2.		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Silent	SNP	ENST00000276440.7	37	c.3801C>T	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	C	5.686	0.311142	0.10789	.	.	ENSG00000147459	ENST00000444569	.	.	.	5.56	-9.51	0.00581	.	.	.	.	.	T	0.62732	0.2452	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71919	-0.4447	4	.	.	.	.	17.3972	0.87449	0.0:0.5681:0.0:0.4319	.	.	.	.	C	1039	.	.	R	+	1	0	DOCK5	25288072	0.000000	0.05858	0.374000	0.26016	0.701000	0.40568	-2.073000	0.01376	-1.834000	0.01193	-1.008000	0.02478	CGC		0.463	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940	
TBC1D2	55357	broad.mit.edu	37	9	101017509	101017509	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr9:101017509G>C	ENST00000375064.1	-	1	353	c.315C>G	c.(313-315)gaC>gaG	p.D105E	TBC1D2_ENST00000375066.5_Missense_Mutation_p.D105E|TBC1D2_ENST00000342112.5_5'UTR	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	105	Interaction with CADH1.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CCTCCTCAGCGTCCGCCTTAC	0.537																																						uc011lvb.1																			0				ovary(3)	3						c.(313-315)GAC>GAG		TBC1 domain family, member 2							61.0	61.0	61.0					9																	101017509		2203	4300	6503	SO:0001583	missense	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:101017509G>C	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"""prostate antigen recognized and identified by SEREX"""	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.315C>G	9.37:g.101017509G>C	ENSP00000364205:p.Asp105Glu					TBC1D2_uc004ayq.2_Missense_Mutation_p.D105E|TBC1D2_uc004ayr.2_5'UTR|TBC1D2_uc004ayo.3_Missense_Mutation_p.D105E	p.D105E	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	1	495	-		Myeloproliferative disorder(762;0.0255)	105			PH.|Interaction with CADH1.		B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	ENST00000375064.1	37	c.315C>G		.	.	.	.	.	.	.	.	.	.	G	2.541	-0.306398	0.05458	.	.	ENSG00000095383	ENST00000375064;ENST00000375066	T;T	0.75367	-0.93;-0.93	5.79	2.61	0.31194	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.174109	0.49916	N	0.000123	T	0.36552	0.0971	N	0.01874	-0.695	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.36089	-0.9762	10	0.02654	T	1	.	2.9633	0.05900	0.096:0.1491:0.5277:0.2271	.	105;105	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	E	105	ENSP00000364205:D105E;ENSP00000364207:D105E	ENSP00000364205:D105E	D	-	3	2	TBC1D2	100057330	0.998000	0.40836	0.983000	0.44433	0.436000	0.31835	0.863000	0.27913	0.762000	0.33152	0.462000	0.41574	GAC		0.537	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421	
PLCXD1	55344	broad.mit.edu	37	X	215977	215977	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chrX:215977T>C	ENST00000381657.2	+	7	1461	c.947T>C	c.(946-948)cTc>cCc	p.L316P	PLCXD1_ENST00000381663.3_Missense_Mutation_p.L316P|PLCXD1_ENST00000399012.1_Missense_Mutation_p.L316P	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1	316					lipid metabolic process (GO:0006629)		phosphoric diester hydrolase activity (GO:0008081)			endometrium(3)|large_intestine(1)|lung(7)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GTCATCGCGCTCAATCAGAAG	0.602																																						uc004cpc.2																			0					0						c.(946-948)CTC>CCC		phosphatidylinositol-specific phospholipase C, X							84.0	75.0	78.0					X																	215977		2203	4296	6499	SO:0001583	missense	55344				intracellular signal transduction|lipid metabolic process		phospholipase C activity	g.chrX:215977T>C	AK002185	CCDS14103.1	Xp22.33 and Yp11.32	2010-07-28			ENSG00000182378	ENSG00000182378		"""Pseudoautosomal regions / PAR1"""	23148	protein-coding gene	gene with protein product							Standard	NM_018390		Approved	FLJ11323	uc004cpc.3	Q9NUJ7	OTTHUMG00000022693	ENST00000381657.2:c.947T>C	X.37:g.215977T>C	ENSP00000371073:p.Leu316Pro					PLCXD1_uc011mgx.1_RNA	p.L316P	NM_018390	NP_060860	Q9NUJ7	PLCX1_HUMAN			7	1259	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	316					A2BH51|A2BH52	Missense_Mutation	SNP	ENST00000381657.2	37	c.947T>C	CCDS14103.1	.	.	.	.	.	.	.	.	.	.	.	11.51	1.658833	0.29515	.	.	ENSG00000182378	ENST00000399012;ENST00000381657;ENST00000381663	.	.	.	1.77	1.77	0.24775	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.000000	0.64402	D	0.000001	T	0.55862	0.1947	.	.	.	0.23972	N	0.996303	D	0.89917	1.0	D	0.91635	0.999	T	0.38520	-0.9657	8	0.44086	T	0.13	-32.3693	8.048	0.30562	0.0:0.0:0.0:1.0	.	316	Q9NUJ7	PLCX1_HUMAN	P	316	.	ENSP00000371073:L316P	L	+	2	0	PLCXD1	155977	1.000000	0.71417	0.661000	0.29709	0.018000	0.09664	4.999000	0.63934	0.762000	0.33152	0.151000	0.16131	CTC		0.602	PLCXD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058879.2	NM_018390	
WWC3	55841	broad.mit.edu	37	X	10096087	10096087	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chrX:10096087G>A	ENST00000380861.4	+	16	2557	c.2166G>A	c.(2164-2166)tgG>tgA	p.W722*	WWC3_ENST00000454666.1_Nonsense_Mutation_p.W722*	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	722					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						AGCTGCGCTGGCATTCCGTGC	0.562																																						uc004csx.3																			0				ovary(4)	4						c.(2164-2166)TGG>TGA		WWC family member 3							102.0	91.0	95.0					X																	10096087		2203	4300	6503	SO:0001587	stop_gained	55841							g.chrX:10096087G>A	AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.2166G>A	X.37:g.10096087G>A	ENSP00000370242:p.Trp722*					WWC3_uc010nds.2_Nonsense_Mutation_p.W386*|WWC3_uc010ndt.2_RNA	p.W722*	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN			16	2364	+			722					A8KA96|Q659C1|Q9BTQ1	Nonsense_Mutation	SNP	ENST00000380861.4	37	c.2166G>A	CCDS14136.1	.	.	.	.	.	.	.	.	.	.	G	43	10.499865	0.99416	.	.	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000543412	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-22.1889	19.1732	0.93588	0.0:0.0:1.0:0.0	.	.	.	.	X	722;722;217	.	.	W	+	3	0	WWC3	10056087	1.000000	0.71417	0.991000	0.47740	0.803000	0.45373	7.965000	0.87945	2.479000	0.83701	0.600000	0.82982	TGG		0.562	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691	
PDHA1	5160	broad.mit.edu	37	X	19369427	19369427	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chrX:19369427G>A	ENST00000422285.2	+	4	425	c.320G>A	c.(319-321)gGc>gAc	p.G107D	PDHA1_ENST00000545074.1_Missense_Mutation_p.G114D|PDHA1_ENST00000379806.5_Missense_Mutation_p.G145D|PDHA1_ENST00000540249.1_Missense_Mutation_p.G107D|PDHA1_ENST00000379805.3_Missense_Mutation_p.G107D			P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	107					acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)					CTGGAGGCCGGCATCAACCCC	0.507																																						uc004czg.3																			0				ovary(1)	1						c.(319-321)GGC>GAC		pyruvate dehydrogenase E1 alpha 1 precursor	NADH(DB00157)						102.0	94.0	97.0					X																	19369427		2203	4300	6503	SO:0001583	missense	5160				glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity	g.chrX:19369427G>A		CCDS14192.1, CCDS55380.1, CCDS55381.1, CCDS55382.1	Xp22.1	2008-02-05			ENSG00000131828	ENSG00000131828	1.2.4.1		8806	protein-coding gene	gene with protein product		300502		PDHA			Standard	NM_001173454		Approved		uc004czh.4	P08559	OTTHUMG00000021224	ENST00000422285.2:c.320G>A	X.37:g.19369427G>A	ENSP00000394382:p.Gly107Asp					PDHA1_uc004czh.3_Missense_Mutation_p.G142D|PDHA1_uc011mjc.1_Missense_Mutation_p.G111D|PDHA1_uc011mjd.1_Missense_Mutation_p.G104D|PDHA1_uc010nfk.2_Missense_Mutation_p.G104D	p.G107D	NM_000284	NP_000275	P08559	ODPA_HUMAN			4	465	+	Hepatocellular(33;0.183)		107					A5YVE9|B2R5P7|B7Z3T7|B7Z3X5|Q53H41|Q5JPT8|Q9NP12|Q9UBJ8|Q9UBU0|Q9UNG4|Q9UNG5	Missense_Mutation	SNP	ENST00000422285.2	37	c.320G>A	CCDS14192.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770754	0.69992	.	.	ENSG00000131828	ENST00000379806;ENST00000545074;ENST00000540249;ENST00000423505;ENST00000422285;ENST00000355808;ENST00000379805	D;D;D;D;D;D;D	0.97114	-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25	5.42	5.42	0.78866	Dehydrogenase, E1 component (1);	0.222797	0.44688	D	0.000430	D	0.97356	0.9135	L	0.49640	1.575	0.37880	D	0.93034	P;P;P;P;P	0.51537	0.464;0.9;0.946;0.46;0.946	B;D;P;P;P	0.63877	0.219;0.919;0.824;0.753;0.824	D	0.99107	1.0845	10	0.72032	D	0.01	-10.0855	13.15	0.59484	0.0:0.307:0.693:0.0	.	107;114;107;145;107	B7Z3X5;B7Z3T7;B2R5P7;A5YVE9;P08559	.;.;.;.;ODPA_HUMAN	D	145;114;107;145;107;114;107	ENSP00000369134:G145D;ENSP00000438550:G114D;ENSP00000440761:G107D;ENSP00000406473:G145D;ENSP00000394382:G107D;ENSP00000348062:G114D;ENSP00000369133:G107D	ENSP00000348062:G114D	G	+	2	0	PDHA1	19279348	1.000000	0.71417	0.749000	0.31150	0.954000	0.61252	4.260000	0.58835	2.419000	0.82065	0.529000	0.55759	GGC		0.507	PDHA1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055977.1		
CCNB3	85417	broad.mit.edu	37	X	50051674	50051674	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chrX:50051674G>A	ENST00000376042.1	+	6	803	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.E169K|CCNB3_ENST00000376038.1_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	169					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TATTGAGGATGAAACCCTTAT	0.433																																						uc004dox.3																			0				ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9						c.(505-507)GAA>AAA		cyclin B3 isoform 3							99.0	88.0	91.0					X																	50051674		2203	4300	6503	SO:0001583	missense	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50051674G>A	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.505G>A	X.37:g.50051674G>A	ENSP00000365210:p.Glu169Lys					CCNB3_uc004doy.2_Missense_Mutation_p.E169K|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	p.E169K	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN			6	803	+	Ovarian(276;0.236)		169					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	c.505G>A	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	g	9.283	1.048710	0.19827	.	.	ENSG00000147082	ENST00000376042;ENST00000276014	T;T	0.17528	2.27;2.27	3.56	-3.68	0.04463	.	.	.	.	.	T	0.05593	0.0147	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38222	-0.9671	8	.	.	.	.	1.033	0.01542	0.3057:0.1763:0.3436:0.1744	.	169	Q8WWL7	CCNB3_HUMAN	K	169	ENSP00000365210:E169K;ENSP00000276014:E169K	.	E	+	1	0	CCNB3	50068414	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.069000	0.14552	-0.978000	0.03533	-1.231000	0.01572	GAA		0.433	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1		
TBX22	50945	broad.mit.edu	37	X	79281244	79281244	+	Missense_Mutation	SNP	C	C	G			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chrX:79281244C>G	ENST00000373294.5	+	4	629	c.601C>G	c.(601-603)Ctc>Gtc	p.L201V	TBX22_ENST00000442340.1_Missense_Mutation_p.L81V|TBX22_ENST00000373296.3_Missense_Mutation_p.L201V|TBX22_ENST00000373291.1_Missense_Mutation_p.L81V	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	201					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L201I(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TCGCATGAAACTCACCAACAA	0.537																																						uc010nmg.1																			1	Substitution - Missense(1)	p.L201I(1)	ovary(1)	lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15						c.(601-603)CTC>GTC		T-box 22 isoform 1							105.0	68.0	80.0					X																	79281244		2203	4300	6503	SO:0001583	missense	50945				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:79281244C>G	AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.601C>G	X.37:g.79281244C>G	ENSP00000362390:p.Leu201Val					TBX22_uc004edi.1_Missense_Mutation_p.L81V|TBX22_uc004edj.1_Missense_Mutation_p.L201V	p.L201V	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN			5	735	+			201			T-box.		Q5JZ06|Q96LC0|Q9HBF1	Missense_Mutation	SNP	ENST00000373294.5	37	c.601C>G	CCDS14445.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.022760	0.75275	.	.	ENSG00000122145	ENST00000373296;ENST00000442340;ENST00000373294;ENST00000373291	D;D;D;D	0.91521	-2.86;-2.86;-2.86;-2.86	4.77	4.77	0.60923	p53-like transcription factor, DNA-binding (1);	0.000000	0.64402	D	0.000001	D	0.96125	0.8737	M	0.91249	3.19	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.97165	0.9840	10	0.87932	D	0	.	15.4757	0.75478	0.0:1.0:0.0:0.0	.	201	Q9Y458	TBX22_HUMAN	V	201;81;201;81	ENSP00000362393:L201V;ENSP00000396394:L81V;ENSP00000362390:L201V;ENSP00000362388:L81V	ENSP00000362388:L81V	L	+	1	0	TBX22	79167900	1.000000	0.71417	0.999000	0.59377	0.620000	0.37586	5.619000	0.67729	1.948000	0.56530	0.600000	0.82982	CTC		0.537	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954	
ATP11C	286410	broad.mit.edu	37	X	138897124	138897124	+	Missense_Mutation	SNP	T	T	A			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chrX:138897124T>A	ENST00000327569.3	-	5	446	c.348A>T	c.(346-348)agA>agT	p.R116S	ATP11C_ENST00000370557.1_Missense_Mutation_p.R113S|ATP11C_ENST00000370543.1_Missense_Mutation_p.R116S|ATP11C_ENST00000359686.2_Missense_Mutation_p.R116S|ATP11C_ENST00000361648.2_Missense_Mutation_p.R116S	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	116					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					CAGCTCTGTGTCTCAGACAAT	0.303																																						uc004faz.2																			0				ovary(5)|large_intestine(3)	8						c.(346-348)AGA>AGT		ATPase, class VI, type 11C isoform a							89.0	77.0	81.0					X																	138897124		2202	4296	6498	SO:0001583	missense	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138897124T>A	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.348A>T	X.37:g.138897124T>A	ENSP00000332756:p.Arg116Ser					ATP11C_uc004fba.2_Missense_Mutation_p.R116S	p.R116S	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN			5	447	-	Acute lymphoblastic leukemia(192;0.000127)		116			Cytoplasmic (Potential).		Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	37	c.348A>T	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	T	18.00	3.525083	0.64747	.	.	ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	D;D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0;-2.0	4.29	1.66	0.24008	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.93602	0.7957	H	0.97682	4.055	0.43152	D	0.994922	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.90720	0.4634	10	0.87932	D	0	.	6.1097	0.20094	0.0:0.3652:0.0:0.6348	.	116;116	Q8NB49-3;Q8NB49	.;AT11C_HUMAN	S	113;116;116;116;116	ENSP00000359588:R113S;ENSP00000355165:R116S;ENSP00000332756:R116S;ENSP00000359574:R116S;ENSP00000352715:R116S	ENSP00000332756:R116S	R	-	3	2	ATP11C	138724790	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	0.763000	0.26517	0.128000	0.18479	0.393000	0.25936	AGA		0.303	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694	
