#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_classification	i_context	i_dataset	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	i_type
SSX2IP	117178	broad.mit.edu	37	1	85124057	85124057	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2038-01	TCGA-24-2038-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-2038-01	TCGA-24-2038-10	g.chr1:85124057C>T	ENST00000342203.3	-	9	1285	c.1022G>A	c.(1021-1023)aGc>aAc	p.S341N	SSX2IP_ENST00000437941.2_Missense_Mutation_p.S314N|SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000370612.4_Missense_Mutation_p.S341N|SSX2IP_ENST00000605755.1_Missense_Mutation_p.S314N	NM_001166293.1|NM_001166294.1|NM_014021.3	NP_001159765.1|NP_001159766.1|NP_054740.3	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	341					cell adhesion (GO:0007155)|centrosome organization (GO:0051297)|regulation of cell motility (GO:2000145)|regulation of Rac protein signal transduction (GO:0035020)	cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|centriolar satellite (GO:0034451)|nucleus (GO:0005634)|protein complex (GO:0043234)		p.S341N(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTTTCTGATGCTGTTTGTAAG	0.413																																																1	Substitution - Missense(1)	ovary(1)	1											146.0	132.0	137.0					1																	85124057		2203	4300	6503	84896645	SO:0001583	missense	117178				CCDS699.1, CCDS53337.1	1p22.3	2008-02-05			ENSG00000117155	ENSG00000117155			16509	protein-coding gene	gene with protein product		608690					Standard	NM_014021		Approved		uc001dkj.3	Q9Y2D8	OTTHUMG00000009926	ENST00000342203.3:c.1022G>A	1.37:g.85124057C>T	ENSP00000340279:p.Ser341Asn		84896645	A8K8W0|B4DFE3|D3DT13|J3KR02|Q6P2P8|Q6ULS1|Q7L168|Q9UIX0	Missense_Mutation	SNP	ENST00000342203.3	37	CCDS699.1	SNP	28	Broad	.	.	.	.	.	.	.	.	.	.	C	35	5.441725	0.96187	.	.	ENSG00000117155	ENST00000342203;ENST00000437941;ENST00000544699;ENST00000370612	T;T	0.54279	0.61;0.58	5.81	5.81	0.92471	.	0.035186	0.85682	D	0.000000	T	0.64616	0.2614	M	0.74258	2.255	0.58432	D	0.999998	D;P;P	0.53151	0.958;0.93;0.93	P;P;P	0.56163	0.793;0.712;0.712	T	0.67333	-0.5697	10	0.72032	D	0.01	.	20.0782	0.97758	0.0:1.0:0.0:0.0	.	337;341;314	F5H549;Q9Y2D8;B4DFE3	.;ADIP_HUMAN;.	N	341;314;337;341	ENSP00000340279:S341N;ENSP00000412781:S314N	ENSP00000340279:S341N	S	-	2	0	SSX2IP	84896645	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.442000	0.80503	2.746000	0.94184	0.655000	0.94253	AGC		0.413	SSX2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027469.1	NM_014021		Missense_Mutation
DNMBP	23268	broad.mit.edu	37	10	101639945	101639945	+	Missense_Mutation	SNP	C	C	T			TCGA-24-2038-01	TCGA-24-2038-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-2038-01	TCGA-24-2038-10	g.chr10:101639945C>T	ENST00000324109.4	-	16	4262	c.4171G>A	c.(4171-4173)Gct>Act	p.A1391T	DNMBP_ENST00000543621.1_Missense_Mutation_p.A637T|DNMBP_ENST00000540316.1_Missense_Mutation_p.A327T|DNMBP_ENST00000342239.3_Missense_Mutation_p.A1415T	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1391	Ser-rich.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A1391T(1)		central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		AAGGATACAGCCATGCTGCTG	0.582																																																1	Substitution - Missense(1)	ovary(1)	10											126.0	120.0	122.0					10																	101639945		2203	4300	6503	101629935	SO:0001583	missense	23268			AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.4171G>A	10.37:g.101639945C>T	ENSP00000315659:p.Ala1391Thr		101629935	Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	ENST00000324109.4	37	CCDS7485.1	SNP	26	Broad	.	.	.	.	.	.	.	.	.	.	C	7.983	0.751605	0.15778	.	.	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000393570;ENST00000543621;ENST00000540316	T;T;T;T	0.32988	2.9;2.83;2.46;1.43	5.42	2.56	0.30785	.	0.143327	0.32258	N	0.006354	T	0.09905	0.0243	N	0.03115	-0.41	0.29015	N	0.886622	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.11329	0.004;0.003;0.006	T	0.27157	-1.0082	10	0.08837	T	0.75	-7.7473	4.1599	0.10278	0.2177:0.4766:0.0:0.3057	.	1391;637;1415	Q6XZF7;Q6XZF7-2;Q5SVK8	DNMBP_HUMAN;.;.	T	1415;1391;637;637;327	ENSP00000344914:A1415T;ENSP00000315659:A1391T;ENSP00000443657:A637T;ENSP00000443573:A327T	ENSP00000315659:A1391T	A	-	1	0	DNMBP	101629935	0.003000	0.15002	1.000000	0.80357	0.838000	0.47535	-0.110000	0.10824	0.653000	0.30826	-0.254000	0.11334	GCT		0.582	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		Missense_Mutation
C11orf30	56946	broad.mit.edu	37	11	76253272	76253272	+	Missense_Mutation	SNP	C	C	A			TCGA-24-2038-01	TCGA-24-2038-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-2038-01	TCGA-24-2038-10	g.chr11:76253272C>A	ENST00000529032.1	+	17	2570	c.2570C>A	c.(2569-2571)tCc>tAc	p.S857Y	C11orf30_ENST00000524767.1_Missense_Mutation_p.S872Y|C11orf30_ENST00000343878.3_Missense_Mutation_p.S857Y|C11orf30_ENST00000533248.1_Missense_Mutation_p.S766Y|C11orf30_ENST00000525919.1_Missense_Mutation_p.S858Y|C11orf30_ENST00000334736.3_Missense_Mutation_p.S857Y|C11orf30_ENST00000524490.1_Missense_Mutation_p.S759Y|C11orf30_ENST00000525038.1_Missense_Mutation_p.S858Y			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	857					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.S857Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						AGCCATCGCTCCCAGCCCCAA	0.517																																																1	Substitution - Missense(1)	ovary(1)	11											150.0	154.0	153.0					11																	76253272		2200	4292	6492	75930920	SO:0001583	missense	56946			AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.2570C>A	11.37:g.76253272C>A	ENSP00000432327:p.Ser857Tyr		75930920	B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	37	CCDS8244.1	SNP	30	Broad	.	.	.	.	.	.	.	.	.	.	C	17.47	3.397284	0.62177	.	.	ENSG00000158636	ENST00000524490;ENST00000334736;ENST00000343878;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032;ENST00000524451	.	.	.	5.53	5.53	0.82687	.	0.131761	0.52532	D	0.000066	T	0.67832	0.2935	L	0.29908	0.895	0.52501	D	0.999956	D;P;P;P;B;D;B	0.67145	0.996;0.826;0.894;0.891;0.031;0.978;0.031	D;B;B;P;B;P;B	0.74023	0.982;0.446;0.446;0.528;0.005;0.496;0.005	T	0.70396	-0.4883	9	0.66056	D	0.02	-5.6102	19.4613	0.94918	0.0:1.0:0.0:0.0	.	766;858;872;211;858;759;857	B7ZKT8;B7ZKU2;B7ZKU0;B3KWW8;Q17RM7;E9PMC9;Q7Z589	.;.;.;.;.;.;EMSY_HUMAN	Y	759;857;857;539;872;766;858;858;857;129	.	ENSP00000334130:S857Y	S	+	2	0	C11orf30	75930920	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.055000	0.64282	2.600000	0.87896	0.563000	0.77884	TCC		0.517	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		Missense_Mutation
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-24-2038-01	TCGA-24-2038-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-2038-01	TCGA-24-2038-10	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	12											91.0	81.0	85.0					12																	25398284		2203	4300	6503	25289551	SO:0001583	missense	3845	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val		25289551	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	SNP	18	Broad	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		Missense_Mutation
DNAH10	196385	broad.mit.edu	37	12	124352060	124352060	+	Missense_Mutation	SNP	A	A	G			TCGA-24-2038-01	TCGA-24-2038-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-2038-01	TCGA-24-2038-10	g.chr12:124352060A>G	ENST00000409039.3	+	41	6885	c.6860A>G	c.(6859-6861)tAt>tGt	p.Y2287C		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2287	AAA 2. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Y879C(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TATGTGCCCTATCTCATGGAT	0.363																																																1	Substitution - Missense(1)	ovary(1)	12											88.0	82.0	84.0					12																	124352060		1877	4097	5974	122918013	SO:0001583	missense	196385			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.6860A>G	12.37:g.124352060A>G	ENSP00000386770:p.Tyr2287Cys		122918013	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	SNP	16	Broad	.	.	.	.	.	.	.	.	.	.	A	4.202	0.036297	0.08148	.	.	ENSG00000197653	ENST00000409039	T	0.26223	1.75	5.04	-0.517	0.11947	.	0.352841	0.25233	U	0.032147	T	0.16342	0.0393	L	0.41824	1.3	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13980	-1.0489	10	0.59425	D	0.04	.	4.3707	0.11246	0.4795:0.3416:0.0668:0.1122	.	2287	Q8IVF4	DYH10_HUMAN	C	2287	ENSP00000386770:Y2287C	ENSP00000386770:Y2287C	Y	+	2	0	DNAH10	122918013	0.015000	0.18098	0.337000	0.25536	0.177000	0.22998	0.979000	0.29500	-0.357000	0.08175	-0.661000	0.03856	TAT		0.363	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			Missense_Mutation
THSD4	79875	broad.mit.edu	37	15	72057451	72057451	+	Missense_Mutation	SNP	A	A	T			TCGA-24-2038-01	TCGA-24-2038-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-2038-01	TCGA-24-2038-10	g.chr15:72057451A>T	ENST00000355327.3	+	16	2816	c.2682A>T	c.(2680-2682)gaA>gaT	p.E894D	THSD4_ENST00000357769.4_Missense_Mutation_p.E534D|THSD4_ENST00000261862.6_Missense_Mutation_p.E894D|THSD4_ENST00000567838.1_3'UTR			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	894	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)	p.E894D(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ACCCCTCTGAATGTTCTTTCC	0.522																																																1	Substitution - Missense(1)	ovary(1)	15											115.0	116.0	116.0					15																	72057451		1910	4133	6043	69844505	SO:0001583	missense	79875			AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.2682A>T	15.37:g.72057451A>T	ENSP00000347484:p.Glu894Asp		69844505	B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	SNP	ENST00000355327.3	37	CCDS10238.2	SNP	4	Broad	.	.	.	.	.	.	.	.	.	.	A	16.68	3.190816	0.58017	.	.	ENSG00000187720	ENST00000355327;ENST00000261862;ENST00000357769	T;T;T	0.56776	0.44;0.44;0.44	4.35	-1.45	0.08828	.	.	.	.	.	T	0.39253	0.1071	L	0.32530	0.975	0.54753	D	0.999984	B;D	0.53312	0.324;0.959	B;P	0.47603	0.129;0.551	T	0.28933	-1.0028	9	0.34782	T	0.22	.	4.7742	0.13171	0.3919:0.1688:0.4393:0.0	.	534;894	B4DR13;Q6ZMP0	.;THSD4_HUMAN	D	894;894;534	ENSP00000347484:E894D;ENSP00000261862:E894D;ENSP00000350413:E534D	ENSP00000261862:E894D	E	+	3	2	THSD4	69844505	0.985000	0.35326	0.610000	0.28997	0.787000	0.44495	0.230000	0.17852	-0.418000	0.07450	0.379000	0.24179	GAA		0.522	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	NM_024817		Missense_Mutation
WDR81	124997	broad.mit.edu	37	17	1635752	1635752	+	Missense_Mutation	SNP	G	G	C			TCGA-24-2038-01	TCGA-24-2038-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-2038-01	TCGA-24-2038-10	g.chr17:1635752G>C	ENST00000409644.1	+	5	4291	c.4291G>C	c.(4291-4293)Gtc>Ctc	p.V1431L	WDR81_ENST00000545662.1_Missense_Mutation_p.V62L|WDR81_ENST00000437219.2_Missense_Mutation_p.V228L|WDR81_ENST00000419248.1_Missense_Mutation_p.V204L|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000309182.5_Missense_Mutation_p.V380L|WDR81_ENST00000446363.1_Missense_Mutation_p.V70L	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1431					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.V380L(1)		cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CTTTTTCCAGGTCTTCTCTCA	0.637																																																1	Substitution - Missense(1)	ovary(1)	17											59.0	56.0	57.0					17																	1635752		2203	4300	6503	1582502	SO:0001583	missense	124997			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.4291G>C	17.37:g.1635752G>C	ENSP00000386609:p.Val1431Leu		1582502	B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	ENST00000409644.1	37	CCDS54062.1	SNP	44	Broad	.	.	.	.	.	.	.	.	.	.	G	12.14	1.847660	0.32606	.	.	ENSG00000167716	ENST00000437219;ENST00000309182;ENST00000446363;ENST00000419248;ENST00000418841;ENST00000409644;ENST00000354680;ENST00000545662	T;T;T;T;T;T;T	0.54675	2.42;2.37;0.58;2.43;0.7;0.64;0.56	5.97	2.91	0.33838	.	0.407067	0.27415	N	0.019478	T	0.41373	0.1156	L	0.43152	1.355	0.30015	N	0.814803	B;B;P;B	0.39782	0.435;0.255;0.688;0.255	B;B;B;B	0.34536	0.057;0.057;0.185;0.038	T	0.36040	-0.9764	10	0.52906	T	0.07	.	11.5661	0.50807	0.2597:0.0:0.7403:0.0	.	62;228;558;380	B7Z6V3;B7Z579;Q8TEL1;Q562E7	.;.;.;WDR81_HUMAN	L	228;380;70;204;16;1431;182;62	ENSP00000391074:V228L;ENSP00000312074:V380L;ENSP00000401560:V70L;ENSP00000407845:V204L;ENSP00000395198:V16L;ENSP00000386609:V1431L;ENSP00000442726:V62L	ENSP00000312074:V380L	V	+	1	0	WDR81	1582502	1.000000	0.71417	0.411000	0.26484	0.589000	0.36550	3.346000	0.52190	0.145000	0.18977	-0.797000	0.03246	GTC		0.637	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2	NM_152348		Missense_Mutation
OR4D2	124538	broad.mit.edu	37	17	56247641	56247641	+	Missense_Mutation	SNP	G	G	A	rs149114670		TCGA-24-2038-01	TCGA-24-2038-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-2038-01	TCGA-24-2038-10	g.chr17:56247641G>A	ENST00000545221.1	+	1	625	c.625G>A	c.(625-627)Gtc>Atc	p.V209I		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	209						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V209I(2)		breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						GCTGGATGTCGTCTGGTTCTT	0.527																																																2	Substitution - Missense(2)	ovary(1)|kidney(1)	17						A	ILE/VAL	2,4404	826.0+/-416.6	0,2,2201	174.0	130.0	145.0		625	4.6	0.9	17	dbSNP_134	145	0,8600		0,0,4300	yes	missense	OR4D2	NM_001004707.3	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	209/308	56247641	2,13004	2203	4300	6503	53602640	SO:0001583	missense	124538				CCDS32688.1	17q22	2013-09-23			ENSG00000255713	ENSG00000255713		"""GPCR / Class A : Olfactory receptors"""	8294	protein-coding gene	gene with protein product							Standard	NM_001004707		Approved		uc010wnp.2	P58180	OTTHUMG00000178801	ENST00000545221.1:c.625G>A	17.37:g.56247641G>A	ENSP00000441354:p.Val209Ile		53602640	Q6IFN8|Q96R75	Missense_Mutation	SNP	ENST00000545221.1	37	CCDS32688.1	SNP	40	Broad	.	.	.	.	.	.	.	.	.	.	A	0.012	-1.670560	0.00758	4.54E-4	0.0	ENSG00000255713	ENST00000545221	T	0.35236	1.32	5.71	4.63	0.57726	GPCR, rhodopsin-like superfamily (1);	0.114355	0.39274	N	0.001415	T	0.17492	0.0420	N	0.16130	0.375	0.18873	N	0.999984	B	0.06786	0.001	B	0.09377	0.004	T	0.33574	-0.9863	10	0.02654	T	1	-40.4738	9.1704	0.37076	0.8488:0.0:0.1512:0.0	.	209	P58180	OR4D2_HUMAN	I	209	ENSP00000441354:V209I	ENSP00000441354:V209I	V	+	1	0	OR4D2	53602640	0.000000	0.05858	0.867000	0.34043	0.054000	0.15201	-0.064000	0.11636	0.516000	0.28340	-0.308000	0.09152	GTC		0.527	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443366.1			Missense_Mutation
MC2R	4158	broad.mit.edu	37	18	13884683	13884683	+	Missense_Mutation	SNP	G	G	A			TCGA-24-2038-01	TCGA-24-2038-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-2038-01	TCGA-24-2038-10	g.chr18:13884683G>A	ENST00000327606.3	-	2	1015	c.835C>T	c.(835-837)Cgg>Tgg	p.R279W		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	279					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)	p.R279W(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	TCTGGGCTCCGGAAGGCATAT	0.498																																					Colon(141;1584 1782 35999 48227 48692)											1	Substitution - Missense(1)	ovary(1)	18											109.0	105.0	106.0					18																	13884683		2203	4300	6503	13874683	SO:0001583	missense	4158				CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"""GPCR / Class A : Melanocortin receptors"""	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.835C>T	18.37:g.13884683G>A	ENSP00000333821:p.Arg279Trp		13874683	A8K016|Q3MI45|Q504X6	Missense_Mutation	SNP	ENST00000327606.3	37	CCDS11869.1	SNP	39	Broad	.	.	.	.	.	.	.	.	.	.	G	23.9	4.469923	0.84533	.	.	ENSG00000185231	ENST00000327606;ENST00000399821	T	0.41065	1.01	5.06	4.18	0.49190	.	0.000000	0.85682	D	0.000000	T	0.70211	0.3198	M	0.90650	3.135	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	T	0.77905	-0.2413	10	0.87932	D	0	.	14.7425	0.69467	0.0:0.0:0.8539:0.1461	.	279	Q01718	ACTHR_HUMAN	W	279	ENSP00000333821:R279W	ENSP00000333821:R279W	R	-	1	2	MC2R	13874683	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.042000	0.70996	1.098000	0.41479	0.655000	0.94253	CGG		0.498	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2			Missense_Mutation
PCDHA12	56137	broad.mit.edu	37	5	140257112	140257112	+	Silent	SNP	C	C	T			TCGA-24-2038-01	TCGA-24-2038-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-2038-01	TCGA-24-2038-10	g.chr5:140257112C>T	ENST00000398631.2	+	1	2055	c.2055C>T	c.(2053-2055)ggC>ggT	p.G685G	PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	685					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCAGTGGGCGCTGTGGATC	0.647																																					Pancreas(113;759 1672 13322 24104 50104)											0			5											38.0	42.0	41.0					5																	140257112		2202	4300	6502	140237296	SO:0001819	synonymous_variant	56137			AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.2055C>T	5.37:g.140257112C>T			140237296	O75278|Q2M1N8	Silent	SNP	ENST00000398631.2	37	CCDS47285.1	SNP	27	Broad																																																																																				0.647	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		Silent
TMEM176A	55365	broad.mit.edu	37	7	150499360	150499360	+	Missense_Mutation	SNP	C	C	T	rs200232307		TCGA-24-2038-01	TCGA-24-2038-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-24-2038-01	TCGA-24-2038-10	g.chr7:150499360C>T	ENST00000484928.1	+	3	813	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C	TMEM176B_ENST00000447204.2_5'Flank|TMEM176A_ENST00000004103.3_Missense_Mutation_p.R78C|TMEM176B_ENST00000492607.1_5'Flank|TMEM176B_ENST00000450753.2_5'Flank|TMEM176A_ENST00000461345.1_Missense_Mutation_p.R19C|TMEM176B_ENST00000434545.1_5'Flank|TMEM176B_ENST00000326442.5_5'Flank			Q96HP8	T176A_HUMAN	transmembrane protein 176A	78					negative regulation of dendritic cell differentiation (GO:2001199)	integral component of membrane (GO:0016021)		p.R78C(1)		breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTTCTACATCCGCGACTACAC	0.582																																																1	Substitution - Missense(1)	ovary(1)	7											136.0	112.0	120.0					7																	150499360		2203	4300	6503	150130293	SO:0001583	missense	55365			AF258340	CCDS5909.1	7q36.1	2006-09-04			ENSG00000002933	ENSG00000002933			24930	protein-coding gene	gene with protein product		610334				12097419, 8889548	Standard	NM_018487		Approved	HCA112	uc003whx.1	Q96HP8	OTTHUMG00000158114	ENST00000484928.1:c.232C>T	7.37:g.150499360C>T	ENSP00000417626:p.Arg78Cys		150130293	D3DX00|Q9NYC7	Missense_Mutation	SNP	ENST00000484928.1	37	CCDS5909.1	SNP	23	Broad	.	.	.	.	.	.	.	.	.	.	C	9.886	1.202941	0.22121	.	.	ENSG00000002933	ENST00000484928;ENST00000004103;ENST00000461345;ENST00000475536;ENST00000468689	T;T;T;T;T	0.02280	4.36;4.36;4.36;4.36;4.36	4.45	-8.9	0.00782	.	2.336960	0.01566	N	0.020352	T	0.01189	0.0039	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46048	-0.9219	10	0.44086	T	0.13	0.3354	3.1526	0.06493	0.1048:0.1608:0.4123:0.3221	.	78	Q96HP8	T176A_HUMAN	C	78;78;19;30;19	ENSP00000417626:R78C;ENSP00000004103:R78C;ENSP00000420818:R19C;ENSP00000417834:R30C;ENSP00000420081:R19C	ENSP00000004103:R78C	R	+	1	0	TMEM176A	150130293	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.613000	0.05610	-1.620000	0.01564	-2.177000	0.00319	CGC		0.582	TMEM176A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350222.1	NM_018487		Missense_Mutation
TBP	6908	broad.mit.edu	37	6	170871013	170871014	+	In_Frame_Ins	INS	-	-	CAG	rs201732168|rs113202486|rs574714675|rs71010672	byFrequency	TCGA-24-2038-01	TCGA-24-2038-10							Unknown	Unknown	Unknown	Phase_I	Capture	---			Illumina GAIIx	TCGA-24-2038-01	TCGA-24-2038-10	g.chr6:170871013_170871014insCAG	ENST00000392092.2	+	3	468_469	c.189_190insCAG	c.(190-192)cag>CAGcag	p.64_64Q>QQ	TBP_ENST00000540980.1_In_Frame_Ins_p.44_44Q>QQ|TBP_ENST00000230354.6_In_Frame_Ins_p.64_64Q>QQ	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	64	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q63_Q64insQ(1)|p.Q63Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacaacaacagcagcagca	0.55																																																2	Insertion - In frame(1)|Substitution - coding silent(1)	prostate(1)|breast(1)	6																																								170712939	SO:0001652	inframe_insertion	6908			M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.211_213dupCAG	6.37:g.170871020_170871022dupCAG	ENSP00000375942:p.Gln95dup		170712938	B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	In_Frame_Ins	INS	ENST00000392092.2	37	CCDS5315.1	INS	2	Broad																																																																																				0.550	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		In_Frame_Ins
