#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PKP4	8502	broad.mit.edu	37	2	159481720	159481720	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr2:159481720G>T	ENST00000389759.3	+	7	1046	c.934G>T	c.(934-936)Gtg>Ttg	p.V312L	PKP4_ENST00000389757.3_Missense_Mutation_p.V312L	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	312					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CACCGCCAGAGTGGGGTCCCC	0.632										HNSCC(62;0.18)																												uc002tzv.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						c.(934-936)Gtg>Ttg		Homo sapiens plakophilin 4 (PKP4), transcript variant 1, mRNA.							47.0	44.0	45.0					2																	159481720		2203	4300	6503	SO:0001583	missense	8502				cell adhesion	desmosome	protein binding	g.chr2:159481720G>T	X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.934G>T	2.37:g.159481720G>T	ENSP00000374409:p.Val312Leu	HNSCC(62;0.18)	Somatic				PKP4_uc002tzt.1_Missense_Mutation_p.V164L|PKP4_uc002tzu.3_Missense_Mutation_p.V312L|PKP4_uc002tzw.3_Missense_Mutation_p.V312L|PKP4_uc002tzx.3_5'UTR|PKP4_uc002tzy.1_5'UTR|PKP4_uc002tzz.1_Missense_Mutation_p.V310L|PKP4_uc002uaa.3_Missense_Mutation_p.V164L	p.V312L	NM_003628	NP_003619	WXS	Illumina GAIIx	Phase_I	Q99569	PKP4_HUMAN			6	1194	+			312					Q86W91	Missense_Mutation	SNP	ENST00000389759.3	37	c.934G>T	CCDS33305.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.718921	0.30503	.	.	ENSG00000144283	ENST00000428353;ENST00000389757;ENST00000389759	T;T	0.74632	-0.82;-0.86	5.87	5.87	0.94306	.	0.304042	0.31210	N	0.008048	T	0.69993	0.3173	L	0.34521	1.04	0.48135	D	0.999598	B;B;B;B	0.17465	0.013;0.002;0.007;0.022	B;B;B;B	0.27380	0.047;0.004;0.006;0.079	T	0.61831	-0.6982	10	0.37606	T	0.19	-11.6221	20.5827	0.99408	0.0:0.0:1.0:0.0	.	164;312;312;164	Q6LCG8;Q99569-2;Q99569;F8W7E2	.;.;PKP4_HUMAN;.	L	164;312;312	ENSP00000374407:V312L;ENSP00000374409:V312L	ENSP00000374407:V312L	V	+	1	0	PKP4	159189966	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.025000	0.76449	2.941000	0.99782	0.655000	0.94253	GTG		0.632	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			12	22	0	0	0	1	0	12	22				
NWD1	284434	broad.mit.edu	37	19	16908636	16908636	+	Missense_Mutation	SNP	C	C	T	rs140641936	byFrequency	TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr19:16908636C>T	ENST00000552788.1	+	14	3398	c.3398C>T	c.(3397-3399)aCg>aTg	p.T1133M	NWD1_ENST00000379808.3_Missense_Mutation_p.T1133M|NWD1_ENST00000524140.2_Missense_Mutation_p.T1133M|NWD1_ENST00000523826.1_Missense_Mutation_p.T927M|NWD1_ENST00000549814.1_Missense_Mutation_p.T1133M|NWD1_ENST00000339803.6_Missense_Mutation_p.T998M			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1133							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ATGGTGGAGACGGCTGTTTTT	0.542																																						uc002neu.4																			0		p.R1132H(1)		NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(3397-3399)aCg>aTg		Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.		C	MET/THR	0,4406		0,0,2203	297.0	272.0	281.0		3398	3.6	0.2	19	dbSNP_134	281	4,8596	3.7+/-12.6	0,4,4296	no	missense	NWD1	NM_001007525.3	81	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging	1133/1433	16908636	4,13002	2203	4300	6503	SO:0001583	missense	284434						ATP binding	g.chr19:16908636C>T	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.3398C>T	19.37:g.16908636C>T	ENSP00000447224:p.Thr1133Met		Somatic				NWD1_uc002net.4_Missense_Mutation_p.T998M|NWD1_uc002nev.4_Missense_Mutation_p.T927M|NWD1_uc021uqg.1_Missense_Mutation_p.T998M	p.T1133M	NM_001007525	NP_001007526	WXS	Illumina GAIIx	Phase_I	Q149M9	NWD1_HUMAN			15	3820	+			1133					C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.3398C>T		.	.	.	.	.	.	.	.	.	.	C	8.793	0.931090	0.18131	0.0	4.65E-4	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.70986	-0.23;-0.53;-0.23;3.51;3.51;3.51	4.62	3.58	0.41010	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.299519	0.31784	N	0.007074	T	0.57562	0.2062	N	0.24115	0.695	0.21064	N	0.999794	P;P;P	0.41345	0.661;0.746;0.63	B;B;B	0.41510	0.212;0.359;0.271	T	0.54262	-0.8320	10	0.62326	D	0.03	-4.2155	10.6039	0.45384	0.0:0.9041:0.0:0.0959	.	1133;1133;998	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	M	998;1133;1133;1133;927;1133;998	ENSP00000428579:T1133M;ENSP00000447548:T1133M;ENSP00000369136:T1133M;ENSP00000428955:T927M;ENSP00000447224:T1133M;ENSP00000340159:T998M	ENSP00000340159:T998M	T	+	2	0	NWD1	16769636	0.263000	0.24083	0.152000	0.22495	0.016000	0.09150	1.992000	0.40737	1.151000	0.42436	0.561000	0.74099	ACG		0.542	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		102	162	0	0	0	1	0	102	162				
KCTD2	23510	broad.mit.edu	37	17	73055633	73055633	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr17:73055633T>A	ENST00000322444.6	+	4	575	c.569T>A	c.(568-570)cTg>cAg	p.L190Q	KCTD2_ENST00000581589.1_5'UTR	NM_015353.1	NP_056168.1	Q14681	KCTD2_HUMAN	potassium channel tetramerization domain containing 2	190					protein homooligomerization (GO:0051260)		protein complex binding (GO:0032403)			kidney(1)|lung(2)	3	all_lung(278;0.226)					TACAGAGTCCTGCAGTGTCAG	0.567																																						uc002jmp.3																			0				kidney(1)|lung(2)	3						c.(568-570)cTg>cAg		Homo sapiens potassium channel tetramerisation domain containing 2 (KCTD2), mRNA.							106.0	85.0	92.0					17																	73055633		2203	4300	6503	SO:0001583	missense	23510					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr17:73055633T>A	BC033329	CCDS32728.1	17q25.2	2013-06-20	2013-06-20			ENSG00000180901			21294	protein-coding gene	gene with protein product		613422	"""potassium channel tetramerisation domain containing 2"""			12620391	Standard	XR_248405		Approved	KIAA0176	uc002jmp.3	Q14681		ENST00000322444.6:c.569T>A	17.37:g.73055633T>A	ENSP00000312814:p.Leu190Gln		Somatic				KCTD2_uc010dfz.3_Non-coding_Transcript|KCTD2_uc002jmq.3_Non-coding_Transcript	p.L190Q	NM_015353	NP_056168	WXS	Illumina GAIIx	Phase_I	Q14681	KCTD2_HUMAN			3	636	+	all_lung(278;0.226)		190						Missense_Mutation	SNP	ENST00000322444.6	37	c.569T>A	CCDS32728.1	.	.	.	.	.	.	.	.	.	.	T	31	5.085562	0.94100	.	.	ENSG00000180901	ENST00000322444;ENST00000375286	T	0.59638	0.25	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000001	T	0.79353	0.4431	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.83450	0.0048	10	0.87932	D	0	.	15.837	0.78805	0.0:0.0:0.0:1.0	.	190	Q14681	KCTD2_HUMAN	Q	190;172	ENSP00000312814:L190Q	ENSP00000312814:L190Q	L	+	2	0	KCTD2	70567228	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.959000	0.87885	2.140000	0.66376	0.460000	0.39030	CTG		0.567	KCTD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445538.1			17	19	0	0	0	1	0	17	19				
WNT11	7481	broad.mit.edu	37	11	75907721	75907721	+	Missense_Mutation	SNP	G	G	A	rs200871564		TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr11:75907721G>A	ENST00000322563.3	-	2	249	c.125C>T	c.(124-126)aCg>aTg	p.T42M	RP11-619A14.2_ENST00000527314.1_RNA	NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN	wingless-type MMTV integration site family, member 11	42					adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|bone mineralization (GO:0030282)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|cloacal septation (GO:0060197)|embryonic skeletal system development (GO:0048706)|lung-associated mesenchyme development (GO:0060484)|mesonephric duct development (GO:0072177)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of fibroblast growth factor production (GO:0090272)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of transcription, DNA-templated (GO:0045892)|neuroendocrine cell differentiation (GO:0061101)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway (GO:0035567)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta2 production (GO:0032915)|protein localization to cell surface (GO:0034394)|protein phosphorylation (GO:0006468)|response to nutrient levels (GO:0031667)|tight junction assembly (GO:0070830)|ureteric bud morphogenesis (GO:0060675)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|protein kinase activator activity (GO:0030295)|Ras GTPase activator activity (GO:0005099)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						GCAGTGTTGCGTCTGGTTCAG	0.637																																						uc001oxe.3																			0				breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						c.(124-126)aCg>aTg		Homo sapiens wingless-type MMTV integration site family, member 11 (WNT11), mRNA.		G	MET/THR	1,4399	2.1+/-5.4	0,1,2199	56.0	39.0	45.0		125	5.1	1.0	11		45	0,8584		0,0,4292	no	missense	WNT11	NM_004626.2	81	0,1,6491	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	42/355	75907721	1,12983	2200	4292	6492	SO:0001583	missense	7481				Wnt receptor signaling pathway, calcium modulating pathway|adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|Ras GTPase activator activity|protein kinase activator activity|transcription regulatory region DNA binding	g.chr11:75907721G>A	Y12692	CCDS8242.1	11q13.5	2008-02-05			ENSG00000085741	ENSG00000085741		"""Wingless-type MMTV integration sites"""	12776	protein-coding gene	gene with protein product		603699				9757009	Standard	NM_004626		Approved		uc001oxe.3	O96014	OTTHUMG00000165264	ENST00000322563.3:c.125C>T	11.37:g.75907721G>A	ENSP00000325526:p.Thr42Met		Somatic				WNT11_uc001oxf.1_Missense_Mutation_p.T42M	p.T42M	NM_004626	NP_004617	WXS	Illumina GAIIx	Phase_I	O96014	WNT11_HUMAN			1	248	-			42					B2R8Z6|Q14DE8|Q8WZ98	Missense_Mutation	SNP	ENST00000322563.3	37	c.125C>T	CCDS8242.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.965800	0.74131	2.27E-4	0.0	ENSG00000085741	ENST00000322563;ENST00000531317;ENST00000447195	T	0.76448	-1.02	5.06	5.06	0.68205	.	0.181630	0.45126	D	0.000392	T	0.71753	0.3377	N	0.14661	0.345	0.54753	D	0.999981	D	0.71674	0.998	P	0.53146	0.719	T	0.75068	-0.3448	10	0.49607	T	0.09	.	13.2145	0.59851	0.0:0.1597:0.8403:0.0	.	42	O96014	WNT11_HUMAN	M	42	ENSP00000325526:T42M	ENSP00000325526:T42M	T	-	2	0	WNT11	75585369	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.587000	0.74071	2.334000	0.79466	0.655000	0.94253	ACG		0.637	WNT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383083.1	NM_004626		5	14	0	0	0	1	0	5	14				
RB1	5925	broad.mit.edu	37	13	49039494	49039494	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr13:49039494C>T	ENST00000267163.4	+	23	2617	c.2479C>T	c.(2479-2481)Cca>Tca	p.P827S		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	827	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				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.?(11)		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)"""	AAAAATGACTCCAAGATCAAG	0.368		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.3		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"""		26	Whole gene deletion(15)|Unknown(11)	p.0?(15)|p.?(11)	bone(11)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(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						c.(2479-2481)Cca>Tca		Homo sapiens retinoblastoma 1 (RB1), mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						57.0	61.0	59.0					13																	49039494		2201	4300	6501	SO:0001583	missense	5925	Hereditary Retinoblastoma	Familial Cancer Database		G1 phase of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|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|sister chromatid biorientation	PML body|Rb-E2F complex|SWI/SNF complex|chromatin	DNA binding|androgen receptor binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:49039494C>T	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.2479C>T	13.37:g.49039494C>T	ENSP00000267163:p.Pro827Ser	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)	Somatic					p.P827S	NM_000321	NP_000312	WXS	Illumina GAIIx	Phase_I	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	22	2645	+		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)	827			Domain C; mediates interaction with E4F1.|Interaction with LIMD1.		A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	37	c.2479C>T	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.423244	0.83559	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.86694	-2.16	5.66	5.66	0.87406	Rb C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92417	0.7593	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92567	0.6063	10	0.72032	D	0.01	.	19.736	0.96205	0.0:1.0:0.0:0.0	.	827	P06400	RB_HUMAN	S	806;827	ENSP00000267163:P827S	ENSP00000267163:P827S	P	+	1	0	RB1	47937495	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.749000	0.74883	2.669000	0.90835	0.591000	0.81541	CCA		0.368	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			24	34	0	0	0	1	0	24	34				
ECSIT	51295	broad.mit.edu	37	19	11624902	11624902	+	Silent	SNP	C	C	T			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr19:11624902C>T	ENST00000270517.7	-	3	366	c.231G>A	c.(229-231)ggG>ggA	p.G77G	RN7SL833P_ENST00000498758.2_RNA|ECSIT_ENST00000252440.7_Silent_p.G77G|ECSIT_ENST00000592312.1_5'UTR|ECSIT_ENST00000591352.1_5'Flank|ECSIT_ENST00000588998.1_Intron|ECSIT_ENST00000591104.1_Silent_p.G77G|ECSIT_ENST00000417981.2_Intron	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	77					BMP signaling pathway (GO:0030509)|innate immune response (GO:0045087)|mesoderm formation (GO:0001707)|oxidation-reduction process (GO:0055114)|regulation of oxidoreductase activity (GO:0051341)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	oxidoreductase activity, acting on NAD(P)H (GO:0016651)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						CAGGCGCCTGCCCAAACAGGT	0.632																																						uc002msb.3																			0				kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						c.(229-231)ggG>ggA		Homo sapiens ECSIT homolog (Drosophila) (ECSIT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							51.0	50.0	50.0					19																	11624902		2203	4300	6503	SO:0001819	synonymous_variant	51295				innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding	g.chr19:11624902C>T	BC005119	CCDS12262.1, CCDS45979.1, CCDS45980.1, CCDS59353.1	19p13.2	2013-05-24	2013-05-24			ENSG00000130159		"""Mitochondrial respiratory chain complex assembly factors"""	29548	protein-coding gene	gene with protein product	"""signaling intermediate in Toll pathway evolutionarily conserved ortholog (mouse)"""	608388	"""ECSIT homolog (Drosophila)"""			10465784, 22982022	Standard	NM_001142464		Approved	SITPEC	uc002msb.3	Q9BQ95		ENST00000270517.7:c.231G>A	19.37:g.11624902C>T			Somatic				ECSIT_uc010dyc.2_Silent_p.G77G|ECSIT_uc010dyd.3_Silent_p.G77G|ECSIT_uc010xma.2_Intron	p.G77G	NM_016581	NP_057665	WXS	Illumina GAIIx	Phase_I	Q9BQ95	ECSIT_HUMAN			2	365	-			77					E9PAN9|K7EMM0|Q96HQ7|Q9NYI1	Silent	SNP	ENST00000270517.7	37	c.231G>A	CCDS12262.1																																																																																				0.632	ECSIT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442603.2	NM_016581		19	22	0	0	0	1	0	19	22				
TTN	7273	broad.mit.edu	37	2	179629473	179629473	+	Missense_Mutation	SNP	G	G	A	rs374521620		TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr2:179629473G>A	ENST00000591111.1	-	42	9993	c.9769C>T	c.(9769-9771)Cgc>Tgc	p.R3257C	TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.R3257C|TTN_ENST00000342175.6_Missense_Mutation_p.R3211C|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R3211C|TTN_ENST00000460472.2_Missense_Mutation_p.R3211C|TTN_ENST00000589042.1_Missense_Mutation_p.R3257C|TTN_ENST00000342992.6_Missense_Mutation_p.R3257C			Q8WZ42	TITIN_HUMAN	titin	13585	Ig-like 19.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCACAGAAGCGGGCAGGCTTG	0.507																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(9769-9771)Cgc>Tgc		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							80.0	83.0	82.0					2																	179629473		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179629473G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.9769C>T	2.37:g.179629473G>A	ENSP00000465570:p.Arg3257Cys		Somatic				TTN_uc021vsz.1_Missense_Mutation_p.R3211C|TTN_uc021vta.1_Missense_Mutation_p.R3211C|TTN_uc021vtb.1_Missense_Mutation_p.R3211C|TTN_uc002umz.1_5'Flank|TTN_uc002unb.2_Missense_Mutation_p.R3257C	p.R3257C	NM_133378	NP_596869	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		41	9994	-			3257			Ig-like 19.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.9769C>T		.	.	.	.	.	.	.	.	.	.	G	17.73	3.462563	0.63513	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52	5.69	5.69	0.88448	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.85856	0.5794	M	0.81942	2.565	0.58432	D	0.999996	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;1.0	D	0.86936	0.2076	9	0.87932	D	0	.	19.821	0.96592	0.0:0.0:1.0:0.0	.	3211;3211;3211;3257;3257	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	C	3257;3211;3211;3211;3211;3257	ENSP00000343764:R3257C;ENSP00000434586:R3211C;ENSP00000340554:R3211C;ENSP00000352154:R3211C;ENSP00000354117:R3257C	ENSP00000340554:R3211C	R	-	1	0	TTN	179337718	1.000000	0.71417	0.998000	0.56505	0.915000	0.54546	7.894000	0.87336	2.683000	0.91414	0.655000	0.94253	CGC		0.507	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		22	63	0	0	0	1	0	22	63				
SRRM2	23524	broad.mit.edu	37	16	2812763	2812763	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr16:2812763C>T	ENST00000301740.8	+	11	2783	c.2234C>T	c.(2233-2235)tCa>tTa	p.S745L		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	745	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AGGTCCAATTCAAGCCCAGAA	0.468																																						uc002crk.3																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(2233-2235)tCa>tTa		Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.							91.0	95.0	94.0					16																	2812763		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding	g.chr16:2812763C>T	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.2234C>T	16.37:g.2812763C>T	ENSP00000301740:p.Ser745Leu		Somatic				SRRM2_uc002crj.1_Missense_Mutation_p.S649L|SRRM2_uc002crl.1_Missense_Mutation_p.S745L|SRRM2_uc010bsu.1_Missense_Mutation_p.S649L	p.S745L	NM_016333	NP_057417	WXS	Illumina GAIIx	Phase_I	Q9UQ35	SRRM2_HUMAN			10	2783	+			745			Arg-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.2234C>T	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	3.912	-0.019808	0.07634	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000426305	T	0.37915	1.17	5.8	5.8	0.92144	.	0.000000	0.51477	D	0.000091	T	0.33904	0.0879	L	0.27053	0.805	0.35032	D	0.758848	D	0.58268	0.982	P	0.50049	0.629	T	0.33394	-0.9870	10	0.29301	T	0.29	-12.9674	13.1768	0.59633	0.0:0.8399:0.1601:0.0	.	745	Q9UQ35	SRRM2_HUMAN	L	745;745;710	ENSP00000301740:S745L	ENSP00000301740:S745L	S	+	2	0	SRRM2	2752764	0.964000	0.33143	0.999000	0.59377	0.687000	0.40016	3.481000	0.53179	2.746000	0.94184	0.563000	0.77884	TCA		0.468	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			15	81	0	0	0	1	0	15	81				
TAF2	6873	broad.mit.edu	37	8	120790278	120790278	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr8:120790278T>C	ENST00000378164.2	-	18	2643	c.2345A>G	c.(2344-2346)aAt>aGt	p.N782S		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	782					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CCTGTTGTCATTGTACTTGAT	0.289																																						uc003you.3																			0				NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49						c.(2344-2346)aAt>aGt		Homo sapiens TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa (TAF2), mRNA.							42.0	45.0	44.0					8																	120790278		2199	4284	6483	SO:0001583	missense	6873				G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:120790278T>C	AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"""	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.2345A>G	8.37:g.120790278T>C	ENSP00000367406:p.Asn782Ser		Somatic					p.N782S	NM_003184	NP_003175	WXS	Illumina GAIIx	Phase_I	Q6P1X5	TAF2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		17	2615	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		782					B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP	ENST00000378164.2	37	c.2345A>G	CCDS34937.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.301054	0.81136	.	.	ENSG00000064313	ENST00000378164	T	0.38722	1.12	5.64	5.64	0.86602	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.71264	0.3319	M	0.89840	3.065	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77940	-0.2399	10	0.66056	D	0.02	-27.1167	15.8661	0.79067	0.0:0.0:0.0:1.0	.	782	Q6P1X5	TAF2_HUMAN	S	782	ENSP00000367406:N782S	ENSP00000367406:N782S	N	-	2	0	TAF2	120859459	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.971000	0.88012	2.155000	0.67459	0.477000	0.44152	AAT		0.289	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184		5	6	0	0	0	1	0	5	6				
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|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)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|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)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												uc009wgu.3	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"""L, E"""			"""melanoma, MM, AML, thyroid"""		1016	Substitution - Missense(1016)	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.							180.0	156.0	164.0					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)	Somatic					p.Q61R	NM_002524	NP_002515	WXS	Illumina GAIIx	Phase_I	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	436	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		95	49	0	0	0	1	0	95	49				
SLC47A1	55244	broad.mit.edu	37	17	19463805	19463805	+	Splice_Site	SNP	C	C	T	rs185769986		TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr17:19463805C>T	ENST00000270570.4	+	12	1191	c.1105C>T	c.(1105-1107)Cga>Tga	p.R369*	SLC47A1_ENST00000395585.1_Splice_Site_p.R369*|SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000457293.1_Splice_Site_p.R369*|RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000571335.1_Splice_Site_p.R174*|SLC47A1_ENST00000436810.2_Splice_Site_p.R346*|SNORA59B_ENST00000458926.1_RNA	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	369					organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	TACTACCGACCGGTGAGTGCT	0.403													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21798	0.0		0.0	False		,,,				2504	0.0					uc002gvx.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23						c.e12+1		Homo sapiens solute carrier family 47, member 1 (SLC47A1), mRNA.							178.0	162.0	167.0					17																	19463805		2203	4300	6503	SO:0001630	splice_region_variant	55244					integral to membrane|plasma membrane	drug:hydrogen antiporter activity	g.chr17:19463805C>T		CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"""Solute carriers"""	25588	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 1"""	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.1106+1C>T	17.37:g.19463805C>T			Somatic				SLC47A1_uc002gvy.1_Splice_Site_p.R369_splice|SLC47A1_uc010vyz.1_Splice_Site_p.R346_splice|SLC47A1_uc010cqp.1_Intron|SLC47A1_uc010cqq.1_Splice_Site_p.R174_splice|SLC47A1_uc010vza.1_Splice_Site_p.R81_splice|SLC47A1_uc010vzb.1_Splice_Site_p.R103_splice|SLC47A1_uc010vzc.1_Splice_Site_p.R41_splice	p.R369_splice	NM_018242	NP_060712	WXS	Illumina GAIIx	Phase_I	Q96FL8	S47A1_HUMAN			12	1192	+	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)		369					Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Splice_Site	SNP	ENST00000270570.4	37	c.1106_splice	CCDS11209.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	16.50	3.139656	0.56936	.	.	ENSG00000142494	ENST00000436810;ENST00000270570;ENST00000457293;ENST00000395585;ENST00000455670;ENST00000424755	.	.	.	5.46	-4.57	0.03421	.	0.680052	0.15370	N	0.265893	.	.	.	.	.	.	0.44834	D	0.997842	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-2.1866	7.4226	0.27081	0.6956:0.1473:0.0814:0.0757	.	.	.	.	X	346;369;369;369;103;81	.	ENSP00000270570:R369X	R	+	1	2	SLC47A1	19404397	0.496000	0.26059	0.432000	0.26747	0.419000	0.31324	-0.167000	0.09940	-1.120000	0.02953	0.462000	0.41574	CGA		0.403	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132250.1	NM_018242	Nonsense_Mutation	16	61	0	0	0	1	0	16	61				
FAM196A	642938	broad.mit.edu	37	10	128973908	128973908	+	Missense_Mutation	SNP	G	G	A	rs377391223	byFrequency	TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr10:128973908G>A	ENST00000522781.1	-	4	1307	c.752C>T	c.(751-753)aCg>aTg	p.T251M	DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Missense_Mutation_p.T251M	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	251										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GGCAACCTCCGTTTTAAACAC	0.657													G|||	2	0.000399361	0.0	0.0	5008	,	,		15461	0.0		0.0	False		,,,				2504	0.002					uc001ljv.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(751-753)aCg>aTg		Homo sapiens family with sequence similarity 196, member A (FAM196A), mRNA.		G	MET/THR,	1,4403	2.1+/-5.4	0,1,2201	21.0	23.0	23.0		752,	4.0	0.7	10		23	0,8600		0,0,4300	no	missense,intron	DOCK1,FAM196A	NM_001039762.2,NM_001380.3	81,	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,	251/480,	128973908	1,13003	2202	4300	6502	SO:0001583	missense	642938							g.chr10:128973908G>A		CCDS31312.1	10q26.2	2009-09-11	2009-09-11	2009-09-11		ENSG00000188916			33859	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 141"""	C10orf141			Standard	NM_001039762		Approved	FLJ45557	uc001ljv.1	Q6ZSG2		ENST00000522781.1:c.752C>T	10.37:g.128973908G>A	ENSP00000429763:p.Thr251Met		Somatic				DOCK1_uc001ljt.3_Intron|DOCK1_uc010qun.2_Intron|FAM196A_uc010quo.1_Missense_Mutation_p.T251M|FAM196A_uc001lju.1_Missense_Mutation_p.T251M|FAM196A_uc009yap.1_Missense_Mutation_p.T251M	p.T251M	NM_001039762	NP_001034851	WXS	Illumina GAIIx	Phase_I	Q6ZSG2	F196A_HUMAN			3	1308	-			251					B2RNT4|B7ZME7	Missense_Mutation	SNP	ENST00000522781.1	37	c.752C>T	CCDS31312.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.575891	0.45902	2.27E-4	0.0	ENSG00000188916	ENST00000522781;ENST00000424811	T;T	0.47528	0.84;0.84	4.02	4.02	0.46733	.	0.234553	0.43919	D	0.000508	T	0.65101	0.2659	M	0.69823	2.125	0.43381	D	0.995488	D;D	0.89917	1.0;0.999	D;P	0.72982	0.979;0.903	T	0.68659	-0.5350	10	0.87932	D	0	.	12.5521	0.56231	0.0:0.0:0.8332:0.1668	.	251;251	B7ZME7;Q6ZSG2	.;F196A_HUMAN	M	251	ENSP00000429763:T251M;ENSP00000428730:T251M	ENSP00000428730:T251M	T	-	2	0	FAM196A	128863898	0.998000	0.40836	0.702000	0.30337	0.309000	0.27889	2.909000	0.48758	2.530000	0.85305	0.563000	0.77884	ACG		0.657	FAM196A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050978.2	NM_001039762		6	16	0	0	0	1	0	6	16				
GCN1L1	10985	broad.mit.edu	37	12	120611492	120611492	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr12:120611492T>A	ENST00000300648.6	-	14	1343	c.1331A>T	c.(1330-1332)cAt>cTt	p.H444L	AC004812.1_ENST00000582675.1_RNA	NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	444					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGGTAGGCATGCCTCACCGC	0.502																																						uc001txo.3																			0		p.R443G(1)		NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(1330-1332)cAt>cTt		Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.							90.0	85.0	86.0					12																	120611492		1943	4140	6083	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120611492T>A	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.1331A>T	12.37:g.120611492T>A	ENSP00000300648:p.His444Leu		Somatic					p.H444L	NM_006836	NP_006827	WXS	Illumina GAIIx	Phase_I	Q92616	GCN1L_HUMAN			13	1344	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		444					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.1331A>T	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	T	11.95	1.792762	0.31685	.	.	ENSG00000089154	ENST00000300648	T	0.04194	3.68	5.14	5.14	0.70334	Armadillo-like helical (1);Domain of unknown function DUF3554 (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.06508	0.0167	L	0.57536	1.79	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.15665	-1.0429	10	0.07482	T	0.82	-13.0669	14.9422	0.71003	0.0:0.0:0.0:1.0	.	444	Q92616	GCN1L_HUMAN	L	444	ENSP00000300648:H444L	ENSP00000300648:H444L	H	-	2	0	GCN1L1	119095875	1.000000	0.71417	0.975000	0.42487	0.972000	0.66771	7.594000	0.82698	1.934000	0.56057	0.455000	0.32223	CAT		0.502	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			6	52	0	0	0	1	0	6	52				
CDH23	64072	broad.mit.edu	37	10	73560398	73560398	+	Silent	SNP	C	C	T			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr10:73560398C>T	ENST00000224721.6	+	52	7388	c.7383C>T	c.(7381-7383)gaC>gaT	p.D2461D	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Silent_p.D216D	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2456	Cadherin 23. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ACTAGGGTGACATCTATGTGC	0.507																																						uc001jrx.4																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(7357-7359)gaC>gaT		Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.							52.0	54.0	53.0					10																	73560398		1936	4129	6065	SO:0001819	synonymous_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73560398C>T	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.7383C>T	10.37:g.73560398C>T			Somatic				CDH23_uc001jsg.4_Silent_p.D216D|CDH23_uc001jsh.4_Silent_p.D216D|CDH23_uc001jsi.4_Silent_p.D216D	p.D2453D	NM_022124	NP_071407	WXS	Illumina GAIIx	Phase_I	Q9H251	CAD23_HUMAN			50	7749	+			2456			Cadherin 23.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	37	c.7359C>T																																																																																					0.507	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		8	8	0	0	0	1	0	8	8				
SLITRK1	114798	broad.mit.edu	37	13	84454817	84454817	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr13:84454817C>A	ENST00000377084.2	-	1	1711	c.826G>T	c.(826-828)Gcc>Tcc	p.A276S		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	276					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TCTTCTTGGGCAGGGGGCGCC	0.552																																						uc001vlk.3																			0		p.P275R(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80						c.(826-828)Gcc>Tcc		Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.							61.0	64.0	63.0					13																	84454817		2203	4300	6503	SO:0001583	missense	114798					integral to membrane		g.chr13:84454817C>A	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.826G>T	13.37:g.84454817C>A	ENSP00000366288:p.Ala276Ser		Somatic					p.A276S	NM_052910	NP_443142	WXS	Illumina GAIIx	Phase_I	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	0	1712	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	276					Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	c.826G>T	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	C	1.046	-0.677213	0.03378	.	.	ENSG00000178235	ENST00000377084	T	0.41400	1.0	4.95	4.95	0.65309	.	0.053938	0.85682	D	0.000000	T	0.23249	0.0562	N	0.05230	-0.09	0.53005	D	0.999968	B	0.13145	0.007	B	0.12837	0.008	T	0.08827	-1.0703	10	0.12103	T	0.63	-12.6113	16.915	0.86149	0.0:1.0:0.0:0.0	.	276	Q96PX8	SLIK1_HUMAN	S	276	ENSP00000366288:A276S	ENSP00000366288:A276S	A	-	1	0	SLITRK1	83352818	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.366000	0.59492	2.572000	0.86782	0.555000	0.69702	GCC		0.552	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		20	44	0	0	0	1	0	20	44				
IGSF9B	22997	broad.mit.edu	37	11	133801601	133801601	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr11:133801601G>T	ENST00000321016.8	-	9	1430	c.1200C>A	c.(1198-1200)taC>taA	p.Y400*	IGSF9B_ENST00000533871.2_Nonsense_Mutation_p.Y400*			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	400	Ig-like 4.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CCAGAGTGTTGTAAGGCACAC	0.602																																						uc001qgx.4																			0				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1198-1200)taC>taA		Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.							40.0	45.0	44.0					11																	133801601		2028	4185	6213	SO:0001587	stop_gained	22997					integral to membrane|plasma membrane		g.chr11:133801601G>T	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.1200C>A	11.37:g.133801601G>T	ENSP00000317980:p.Tyr400*		Somatic				IGSF9B_uc001qgy.1_Nonsense_Mutation_p.Y242*	p.Y400*	NM_014987	NP_055802	WXS	Illumina GAIIx	Phase_I	Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	8	1431	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	400			Ig-like 4.		G5EA26	Nonsense_Mutation	SNP	ENST00000321016.8	37	c.1200C>A		.	.	.	.	.	.	.	.	.	.	G	40	7.970073	0.98588	.	.	ENSG00000080854	ENST00000321016;ENST00000533871;ENST00000527648	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.7919	0.23705	0.2184:0.0:0.7816:0.0	.	.	.	.	X	400;242;400	.	ENSP00000317980:Y400X	Y	-	3	2	IGSF9B	133306811	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.998000	0.49465	2.423000	0.82170	0.543000	0.68304	TAC		0.602	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		5	10	0	0	0	1	0	5	10				
EFCAB5	374786	broad.mit.edu	37	17	28380836	28380836	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr17:28380836T>C	ENST00000394835.3	+	10	2056	c.1864T>C	c.(1864-1866)Tca>Cca	p.S622P	EFCAB5_ENST00000536908.2_Missense_Mutation_p.S566P|EFCAB5_ENST00000541045.1_Missense_Mutation_p.S279P|EFCAB5_ENST00000378738.3_Missense_Mutation_p.S622P|EFCAB5_ENST00000320856.5_Missense_Mutation_p.S622P|EFCAB5_ENST00000394832.2_Missense_Mutation_p.S622P	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	622							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						ACACAAAGGGTCAGTAGCAGA	0.463																																						uc002het.3																			0				breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(1864-1866)Tca>Cca		Homo sapiens EF-hand calcium binding domain 5 (EFCAB5), transcript variant 1, mRNA.							239.0	225.0	230.0					17																	28380836		2083	4215	6298	SO:0001583	missense	374786						calcium ion binding	g.chr17:28380836T>C	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.1864T>C	17.37:g.28380836T>C	ENSP00000378312:p.Ser622Pro		Somatic				EFCAB5_uc010wbi.1_Missense_Mutation_p.S365P|EFCAB5_uc010wbj.2_Missense_Mutation_p.S566P|EFCAB5_uc010wbk.2_Missense_Mutation_p.S279P|EFCAB5_uc010csd.3_Non-coding_Transcript|EFCAB5_uc010cse.3_Missense_Mutation_p.S501P|EFCAB5_uc010csf.3_Missense_Mutation_p.S501P	p.S622P	NM_198529	NP_940931	WXS	Illumina GAIIx	Phase_I	A4FU69	EFCB5_HUMAN			9	2056	+			622					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	c.1864T>C	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	T	12.44	1.938610	0.34189	.	.	ENSG00000176927	ENST00000536908;ENST00000534836;ENST00000541045;ENST00000394835;ENST00000320856;ENST00000394832;ENST00000378738;ENST00000423598;ENST00000419434	T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.83	2.13	0.27403	.	0.723385	0.11968	N	0.512046	T	0.54615	0.1869	M	0.67953	2.075	0.09310	N	1	D;D;D;P;B;P	0.89917	0.999;1.0;1.0;0.859;0.111;0.859	D;D;D;P;B;B	0.91635	0.996;0.998;0.999;0.507;0.041;0.274	T	0.37776	-0.9691	10	0.34782	T	0.22	-10.1655	3.4961	0.07655	0.0:0.272:0.1974:0.5306	.	566;566;622;622;622;622	B4DS75;F5GYL2;A8MSY9;B5MEA3;E7EVS9;A4FU69	.;.;.;.;.;EFCB5_HUMAN	P	566;365;279;622;622;622;622;566;428	ENSP00000440619:S566P;ENSP00000445575:S279P;ENSP00000378312:S622P;ENSP00000322003:S622P;ENSP00000378309:S622P;ENSP00000368012:S622P;ENSP00000417009:S428P	ENSP00000322003:S622P	S	+	1	0	EFCAB5	25404962	0.002000	0.14202	0.056000	0.19401	0.007000	0.05969	0.441000	0.21611	1.028000	0.39785	0.533000	0.62120	TCA		0.463	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		38	132	0	0	0	1	0	38	132				
KIAA0930	23313	broad.mit.edu	37	22	45601543	45601543	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr22:45601543C>T	ENST00000336156.5	-	4	447	c.382G>A	c.(382-384)Ggg>Agg	p.G128R	KIAA0930_ENST00000474515.1_5'Flank|KIAA0930_ENST00000251993.7_Missense_Mutation_p.G133R|KIAA0930_ENST00000391627.2_Missense_Mutation_p.G94R|KIAA0930_ENST00000443310.3_Missense_Mutation_p.G110R	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	128										endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						TGAATGTCCCCGCCGTCAGCA	0.617																																						uc003bfv.1																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						c.(409-411)Ggg>Agg		Homo sapiens KIAA0930 (KIAA0930), transcript variant 2, mRNA.							85.0	77.0	80.0					22																	45601543		2203	4300	6503	SO:0001583	missense	23313						protein binding	g.chr22:45601543C>T	AK025608	CCDS33665.1, CCDS33666.1	22q13.31	2011-02-23	2011-02-23	2011-02-23	ENSG00000100364	ENSG00000100364			1314	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 9"""	C22orf9		10231032	Standard	NM_015264		Approved	bK268H5.C22.1	uc003bfw.1	Q6ICG6	OTTHUMG00000151263	ENST00000336156.5:c.382G>A	22.37:g.45601543C>T	ENSP00000336720:p.Gly128Arg		Somatic				KIAA0930_uc003bfx.1_Missense_Mutation_p.G128R|KIAA0930_uc010gzw.1_Intron|KIAA0930_uc003bfw.1_Missense_Mutation_p.G133R|KIAA0930_uc010gzx.2_Missense_Mutation_p.G110R	p.G137R	NM_001009880	NP_001009880	WXS	Illumina GAIIx	Phase_I	Q6ICG6	K0930_HUMAN			2	595	-			128					B0QY17|B0QY19|B3KT48|Q6ZVE5|Q7Z6K9|Q8IZ76|Q9Y2E2	Missense_Mutation	SNP	ENST00000336156.5	37	c.409G>A	CCDS33665.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.193788	0.58017	.	.	ENSG00000100364	ENST00000336156;ENST00000251993;ENST00000391627;ENST00000443310;ENST00000414854;ENST00000424508	.	.	.	4.59	4.59	0.56863	.	0.156544	0.56097	D	0.000024	T	0.62780	0.2456	L	0.28694	0.88	0.80722	D	1	D;D;D;D	0.89917	1.0;0.994;0.995;0.999	D;P;P;P	0.91635	0.999;0.806;0.578;0.859	T	0.55933	-0.8062	9	0.12430	T	0.62	-34.2283	15.9647	0.79961	0.0:1.0:0.0:0.0	.	110;128;133;199	B0AZU2;Q6ICG6;Q6ICG6-2;Q8IUY4	.;K0930_HUMAN;.;.	R	128;133;94;110;94;110	.	ENSP00000251993:G133R	G	-	1	0	KIAA0930	43980207	1.000000	0.71417	0.763000	0.31416	0.100000	0.18952	7.485000	0.81204	2.275000	0.75901	0.561000	0.74099	GGG		0.617	KIAA0930-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321975.2	NM_001009880		9	12	0	0	0	1	0	9	12				
PRND	23627	broad.mit.edu	37	20	4705313	4705313	+	Missense_Mutation	SNP	C	C	T	rs368923140		TCGA-EL-A4KI-01A-11D-A257-08	TCGA-EL-A4KI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f7954cc-eff5-418c-836d-3ce654555af8	e1a95488-c7bd-4a5c-b9b7-67580e5c4108	g.chr20:4705313C>T	ENST00000305817.2	+	2	187	c.116C>T	c.(115-117)gCc>gTc	p.A39V		NM_012409.2	NP_036541.2	Q9UKY0	PRND_HUMAN	prion protein 2 (dublet)	39	Flexible tail.				protein homooligomerization (GO:0051260)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						AACCGGAAGGCCCTGCCCAGC	0.622																																						uc002wkz.3																			0				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						c.(115-117)gCc>gTc		Homo sapiens prion protein 2 (dublet) (PRND), mRNA.		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	62.0	53.0	56.0		116	2.2	0.0	20		56	0,8600		0,0,4300	no	missense	PRND	NM_012409.2	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	39/177	4705313	1,13005	2203	4300	6503	SO:0001583	missense	23627				protein homooligomerization	anchored to membrane|plasma membrane		g.chr20:4705313C>T	AF106918	CCDS13081.1	20p13	2013-09-19			ENSG00000171864	ENSG00000171864			15748	protein-coding gene	gene with protein product	"""prion-like protein doppel"""	604263				10525406, 10577243	Standard	NM_012409		Approved	DPL, dJ1068H6.4, DOPPEL, PrPLP	uc002wkz.3	Q9UKY0	OTTHUMG00000031789	ENST00000305817.2:c.116C>T	20.37:g.4705313C>T	ENSP00000306900:p.Ala39Val		Somatic				PRND_uc021waf.1_Missense_Mutation_p.A39V	p.A39V	NM_012409	NP_036541	WXS	Illumina GAIIx	Phase_I	Q9UKY0	PRND_HUMAN			1	187	+			39			Flexible tail.		A7U7M5|Q9H311|Q9H312|Q9NTM4	Missense_Mutation	SNP	ENST00000305817.2	37	c.116C>T	CCDS13081.1	.	.	.	.	.	.	.	.	.	.	C	2.775	-0.254911	0.05829	2.27E-4	0.0	ENSG00000171864	ENST00000305817	D	0.82803	-1.65	5.47	2.19	0.27852	.	0.960811	0.08524	N	0.932934	T	0.70133	0.3189	L	0.28458	0.855	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.52373	-0.8584	10	0.12430	T	0.62	-7.6194	6.2887	0.21047	0.0:0.6368:0.1682:0.195	.	39	Q9UKY0	PRND_HUMAN	V	39	ENSP00000306900:A39V	ENSP00000306900:A39V	A	+	2	0	PRND	4653313	0.001000	0.12720	0.001000	0.08648	0.334000	0.28698	0.824000	0.27379	0.659000	0.30945	0.557000	0.71058	GCC		0.622	PRND-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077827.2	NM_012409		4	51	0	0	0	1	0	4	51				
