#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	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
SP4	6671	broad.mit.edu	37	7	21469100	21469100	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A1QI-01A-11D-A14W-08	TCGA-DJ-A1QI-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9130d132-2f6b-4b7f-a8a6-05556bb0605b	fafdd2c4-d678-4dd7-9aee-15d743c9f905	g.chr7:21469100C>T	ENST00000222584.3	+	3	535	c.317C>T	c.(316-318)gCc>gTc	p.A106V		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	106					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.A106V(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						CAACTTGTTGCCTCCACTCCT	0.438																																						uc003sva.3																			1	Substitution - Missense(1)	p.A106V(2)	kidney(1)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						c.(316-318)gCc>gTc		Homo sapiens Sp4 transcription factor (SP4), mRNA.							102.0	86.0	92.0					7																	21469100		2203	4300	6503	SO:0001583	missense	6671				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr7:21469100C>T		CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.317C>T	7.37:g.21469100C>T	ENSP00000222584:p.Ala106Val					SP4_uc003svb.3_5'UTR	p.A106V	NM_003112	NP_003103	Q02446	SP4_HUMAN			2	498	+			106					O60402|Q32M52	Missense_Mutation	SNP	ENST00000222584.3	37	c.317C>T	CCDS5373.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.50|15.50	2.850554|2.850554	0.51270|0.51270	.|.	.|.	ENSG00000105866|ENSG00000105866	ENST00000222584|ENST00000446800	T|.	0.09445|.	2.98|.	4.46|4.46	4.46|4.46	0.54185|0.54185	.|.	0.110120|.	0.64402|.	D|.	0.000007|.	T|T	0.63663|0.63663	0.2530|0.2530	L|L	0.40543|0.40543	1.245|1.245	0.53688|0.53688	D|D	0.999977|0.999977	B|.	0.19583|.	0.037|.	B|.	0.18871|.	0.023|.	T|T	0.68465|0.68465	-0.5401|-0.5401	10|6	0.66056|0.87932	D|D	0.02|0	.|.	17.3279|17.3279	0.87255|0.87255	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	106|.	Q02446|.	SP4_HUMAN|.	V|S	106|83	ENSP00000222584:A106V|.	ENSP00000222584:A106V|ENSP00000402421:P83S	A|P	+|+	2|1	0|0	SP4|SP4	21435625|21435625	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.110000|7.110000	0.77069|0.77069	2.308000|2.308000	0.77769|0.77769	0.655000|0.655000	0.94253|0.94253	GCC|CCT		0.438	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112		20	32	0	0	0	1	0	20	32				
C10orf53	282966	broad.mit.edu	37	10	50902594	50902594	+	Silent	SNP	T	T	C			TCGA-DJ-A1QI-01A-11D-A14W-08	TCGA-DJ-A1QI-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9130d132-2f6b-4b7f-a8a6-05556bb0605b	fafdd2c4-d678-4dd7-9aee-15d743c9f905	g.chr10:50902594T>C	ENST00000374111.3	+	3	240	c.228T>C	c.(226-228)ggT>ggC	p.G76G	C10orf53_ENST00000374113.3_3'UTR|C10orf53_ENST00000535836.1_Intron|C10orf53_ENST00000374112.3_Intron	NM_001042427.1	NP_001035892.1	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53	76										endometrium(1)|lung(6)	7		all_neural(218;0.107)				GAGGCGATGGTAAACTAGACC	0.458																																						uc001jib.3																			0		p.T76T(2)		endometrium(1)|lung(6)	7						c.(226-228)ggT>ggC		Homo sapiens chromosome 10 open reading frame 53 (C10orf53), transcript variant 2, mRNA.							96.0	98.0	97.0					10																	50902594		1962	4160	6122	SO:0001819	synonymous_variant	282966							g.chr10:50902594T>C	BC028127	CCDS31202.1, CCDS41521.1	10q11.23	2012-05-24			ENSG00000178645	ENSG00000178645			27421	protein-coding gene	gene with protein product						12477932	Standard	NM_182554		Approved	Em:AC069546.1	uc001jid.1	Q8N6V4	OTTHUMG00000018199	ENST00000374111.3:c.228T>C	10.37:g.50902594T>C						C10orf53_uc001jic.1_3'UTR|C10orf53_uc001jid.1_Intron	p.G76G	NM_001042427	NP_001035892	Q8N6V4	CJ053_HUMAN			2	288	+		all_neural(218;0.107)	76					A6NI81|A6NLE0|B9ZVK6	Silent	SNP	ENST00000374111.3	37	c.228T>C	CCDS41521.1																																																																																				0.458	C10orf53-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048005.1	NM_182554		4	45	0	0	0	1	0	4	45				
HEATR1	55127	broad.mit.edu	37	1	236734652	236734652	+	Splice_Site	SNP	G	G	A			TCGA-DJ-A1QI-01A-11D-A14W-08	TCGA-DJ-A1QI-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9130d132-2f6b-4b7f-a8a6-05556bb0605b	fafdd2c4-d678-4dd7-9aee-15d743c9f905	g.chr1:236734652G>A	ENST00000366582.3	-	28	4061	c.3947C>T	c.(3946-3948)cCg>cTg	p.P1316L	HEATR1_ENST00000366581.2_Splice_Site_p.P1235L	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1316					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AACGCTTACCGGAAATATTCC	0.403																																						uc001hyd.2																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87						c.e28+1		Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.							49.0	51.0	51.0					1																	236734652		2203	4300	6503	SO:0001630	splice_region_variant	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236734652G>A	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.3948+1C>T	1.37:g.236734652G>A						HEATR1_uc009xgh.2_Splice_Site_p.P478_splice	p.P1316_splice	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		28	4100	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	1316					Q5T3Q8|Q6P197|Q9NW23	Splice_Site	SNP	ENST00000366582.3	37	c.3948_splice	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	G	31	5.090596	0.94149	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.56941	0.43;0.43	5.36	5.36	0.76844	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77658	0.4163	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.974;1.0	T	0.81398	-0.0951	10	0.66056	D	0.02	.	19.0871	0.93209	0.0:0.0:1.0:0.0	.	1235;1316	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	L	1316;1235	ENSP00000355541:P1316L;ENSP00000355540:P1235L	ENSP00000355540:P1235L	P	-	2	0	HEATR1	234801275	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.504000	0.84457	0.585000	0.79938	CCG		0.403	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853	Missense_Mutation	3	53	0	0	0	1	0	3	53				
OR2H2	7932	broad.mit.edu	37	6	29556434	29556434	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A1QI-01A-11D-A14W-08	TCGA-DJ-A1QI-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9130d132-2f6b-4b7f-a8a6-05556bb0605b	fafdd2c4-d678-4dd7-9aee-15d743c9f905	g.chr6:29556434C>T	ENST00000383640.2	+	1	752	c.713C>T	c.(712-714)aCc>aTc	p.T238I	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	238					defense response (GO:0006952)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|mating (GO:0007618)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						GCTTTTGGGACCTGCTCCTCC	0.532																																						uc003nmr.1																			0		p.G237V(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						c.(712-714)aCc>aTc		Homo sapiens olfactory receptor, family 2, subfamily H, member 2 (OR2H2), mRNA.							108.0	102.0	105.0					6																	29556434		1511	2709	4220	SO:0001583	missense	7932				defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29556434C>T		CCDS34365.1	6p22.2-p21.31	2012-08-09				ENSG00000204657		"""GPCR / Class A : Olfactory receptors"""	8253	protein-coding gene	gene with protein product		600578					Standard	XM_005249407		Approved	hs6M1-12	uc003nmr.1	O95918		ENST00000383640.2:c.713C>T	6.37:g.29556434C>T	ENSP00000373136:p.Thr238Ile					GABBR1_uc003nmp.4_Intron	p.T238I	NM_007160	NP_009091	O95918	OR2H2_HUMAN			0	752	+			238					Q15062|Q2M1Y3|Q5STL8|Q5SUK1|Q6IFN7|Q6NTB7|Q96R14	Missense_Mutation	SNP	ENST00000383640.2	37	c.713C>T	CCDS34365.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.142938	0.57044	.	.	ENSG00000204657	ENST00000383640	T	0.42513	0.97	4.09	3.22	0.36961	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42548	D	0.000688	T	0.50752	0.1634	M	0.94063	3.49	0.36245	D	0.853555	P	0.50066	0.931	P	0.50659	0.647	T	0.64504	-0.6392	10	0.72032	D	0.01	.	10.7172	0.46019	0.0:0.9032:0.0:0.0968	.	238	O95918	OR2H2_HUMAN	I	238	ENSP00000373136:T238I	ENSP00000373136:T238I	T	+	2	0	OR2H2	29664413	1.000000	0.71417	0.933000	0.37362	0.651000	0.38670	4.507000	0.60434	0.921000	0.36994	-0.237000	0.12165	ACC		0.532	OR2H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076057.2			10	68	0	0	0	1	0	10	68				
IGF1R	3480	broad.mit.edu	37	15	99440012	99440012	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A1QI-01A-11D-A14W-08	TCGA-DJ-A1QI-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9130d132-2f6b-4b7f-a8a6-05556bb0605b	fafdd2c4-d678-4dd7-9aee-15d743c9f905	g.chr15:99440012C>A	ENST00000268035.6	+	4	1591	c.980C>A	c.(979-981)cCt>cAt	p.P327H	IGF1R_ENST00000560432.1_3'UTR|IGF1R_ENST00000558762.1_Missense_Mutation_p.P327H	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	327					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	TGTGAAGGTCCTTGCCCGAAG	0.393																																						uc002bul.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(979-981)cCt>cAt		Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						99.0	89.0	92.0					15																	99440012		2197	4297	6494	SO:0001583	missense	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of cell proliferation|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99440012C>A	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.980C>A	15.37:g.99440012C>A	ENSP00000268035:p.Pro327His					IGF1R_uc010urq.2_Missense_Mutation_p.P327H|IGF1R_uc010bon.3_Missense_Mutation_p.P327H|IGF1R_uc021sxi.1_5'Flank	p.P327H	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		3	1030	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		327					B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	c.980C>A	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.576812	0.65878	.	.	ENSG00000140443	ENST00000268035	D	0.97575	-4.44	5.79	5.79	0.91817	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.64402	D	0.000020	D	0.98305	0.9438	M	0.77103	2.36	0.58432	D	0.999999	D;D	0.76494	0.999;0.989	D;D	0.65773	0.938;0.929	D	0.98268	1.0502	10	0.49607	T	0.09	.	20.04	0.97581	0.0:1.0:0.0:0.0	.	327;327	C9J5X1;P08069	.;IGF1R_HUMAN	H	327	ENSP00000268035:P327H	ENSP00000268035:P327H	P	+	2	0	IGF1R	97257535	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	2.983000	0.49345	2.733000	0.93635	0.655000	0.94253	CCT		0.393	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		3	40	0	0	0	1	0	3	40				
STXBP5L	9515	broad.mit.edu	37	3	121097680	121097680	+	Missense_Mutation	SNP	G	G	A	rs368965958		TCGA-DJ-A1QI-01A-11D-A14W-08	TCGA-DJ-A1QI-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9130d132-2f6b-4b7f-a8a6-05556bb0605b	fafdd2c4-d678-4dd7-9aee-15d743c9f905	g.chr3:121097680G>A	ENST00000273666.6	+	22	2637	c.2366G>A	c.(2365-2367)cGa>cAa	p.R789Q	STXBP5L_ENST00000492541.1_Missense_Mutation_p.R789Q|STXBP5L_ENST00000471454.1_Missense_Mutation_p.R765Q|STXBP5L_ENST00000472879.1_Missense_Mutation_p.R765Q|STXBP5L_ENST00000497029.1_Intron	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	789					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CCACCATTTCGAAAGGCCCAG	0.398																																						uc003eec.4																			0		p.R789*(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(2365-2367)cGa>cAa		Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.		G	GLN/ARG	0,3696		0,0,1848	54.0	51.0	52.0		2366	5.1	1.0	3		52	2,8200		0,2,4099	no	missense	STXBP5L	NM_014980.2	43	0,2,5947	AA,AG,GG		0.0244,0.0,0.0168	possibly-damaging	789/1187	121097680	2,11896	1848	4101	5949	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:121097680G>A	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.2366G>A	3.37:g.121097680G>A	ENSP00000273666:p.Arg789Gln					STXBP5L_uc011bji.2_Missense_Mutation_p.R765Q	p.R789Q	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	21	2506	+			789					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.2366G>A	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.481576	0.63849	0.0	2.44E-4	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000492541	T;T;T;T	0.28454	1.82;1.85;1.65;1.61	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.26919	0.0659	L	0.51422	1.61	0.80722	D	1	D;P	0.54601	0.967;0.787	B;B	0.39068	0.289;0.197	T	0.10154	-1.0642	10	0.11485	T	0.65	-9.7102	17.7945	0.88565	0.0:0.0:1.0:0.0	.	765;789	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	Q	789;765;765;789	ENSP00000273666:R789Q;ENSP00000420019:R765Q;ENSP00000419627:R765Q;ENSP00000420666:R789Q	ENSP00000273666:R789Q	R	+	2	0	STXBP5L	122580370	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.182000	0.94881	2.514000	0.84764	0.585000	0.79938	CGA		0.398	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			17	31	0	0	0	1	0	17	31				
BTBD17	388419	broad.mit.edu	37	17	72352829	72352829	+	Silent	SNP	G	G	A			TCGA-DJ-A1QI-01A-11D-A14W-08	TCGA-DJ-A1QI-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9130d132-2f6b-4b7f-a8a6-05556bb0605b	fafdd2c4-d678-4dd7-9aee-15d743c9f905	g.chr17:72352829G>A	ENST00000375366.3	-	3	1530	c.1404C>T	c.(1402-1404)ccC>ccT	p.P468P		NM_001080466.1	NP_001073935.1	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17	468					negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|lung(4)	6						TGTGGTATACGGGCTTGACGA	0.652																																						uc002jkn.2																			0				endometrium(1)|kidney(1)|lung(4)	6						c.(1402-1404)ccC>ccT		Homo sapiens BTB (POZ) domain containing 17 (BTBD17), mRNA.							83.0	78.0	80.0					17																	72352829		2203	4300	6503	SO:0001819	synonymous_variant	388419					extracellular region		g.chr17:72352829G>A		CCDS32719.1	17q25.1	2013-01-08			ENSG00000204347	ENSG00000204347		"""BTB/POZ domain containing"""	33758	protein-coding gene	gene with protein product	"""transport and golgi organization 10 homolog A (Drosophila)"""						Standard	NM_001080466		Approved	LGALS3BPL, BTBD17A, TANGO10A	uc002jkn.2	A6NE02	OTTHUMG00000178580	ENST00000375366.3:c.1404C>T	17.37:g.72352829G>A							p.P468P	NM_001080466	NP_001073935	A6NE02	BTBDH_HUMAN			2	1404	-			468						Silent	SNP	ENST00000375366.3	37	c.1404C>T	CCDS32719.1																																																																																				0.652	BTBD17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442542.1	NM_001080466		3	38	0	0	0	1	0	3	38				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A1QI-01A-11D-A14W-08	TCGA-DJ-A1QI-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9130d132-2f6b-4b7f-a8a6-05556bb0605b	fafdd2c4-d678-4dd7-9aee-15d743c9f905	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333	NP_004324	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		33	51	0	0	0	1	0	33	51				
SPANXN1	494118	broad.mit.edu	37	X	144329165	144329165	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A1QI-01A-11D-A14W-08	TCGA-DJ-A1QI-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9130d132-2f6b-4b7f-a8a6-05556bb0605b	fafdd2c4-d678-4dd7-9aee-15d743c9f905	g.chrX:144329165A>G	ENST00000370493.3	+	1	818	c.59A>G	c.(58-60)aAc>aGc	p.N20S		NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1	20										endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TGTGAATCCAACAATGAAAAT	0.448																																						uc004fcb.2																			0		p.S19F(1)		endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14						c.(58-60)aAc>aGc		Homo sapiens SPANX family, member N1 (SPANXN1), mRNA.							234.0	201.0	212.0					X																	144329165		2203	4299	6502	SO:0001583	missense	494118							g.chrX:144329165A>G		CCDS35421.1	Xq27.3	2009-03-25				ENSG00000203923			33174	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 6"""	300664				14973187, 17012309	Standard	NM_001009614		Approved	SPANX-N1, CT11.6	uc004fcb.2	Q5VSR9		ENST00000370493.3:c.59A>G	X.37:g.144329165A>G	ENSP00000359524:p.Asn20Ser						p.N20S	NM_001009614	NP_001009614	Q5VSR9	SPXN1_HUMAN			0	59	+	Acute lymphoblastic leukemia(192;6.56e-05)		20						Missense_Mutation	SNP	ENST00000370493.3	37	c.59A>G	CCDS35421.1	.	.	.	.	.	.	.	.	.	.	A	0.561	-0.845307	0.02671	.	.	ENSG00000203923	ENST00000370493	T	0.14516	2.5	.	.	.	.	.	.	.	.	T	0.09818	0.0241	.	.	.	0.09310	N	1	B	0.27166	0.17	B	0.26310	0.068	T	0.31943	-0.9925	6	0.87932	D	0	.	.	.	.	.	20	Q5VSR9	SPXN1_HUMAN	S	20	ENSP00000359524:N20S	ENSP00000359524:N20S	N	+	2	0	SPANXN1	144136857	0.002000	0.14202	0.216000	0.23742	0.220000	0.24768	0.318000	0.19504	0.046000	0.15833	0.046000	0.15203	AAC		0.448	SPANXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058631.2	NM_001009614		4	188	0	0	0	1	0	4	188				
ANKAR	150709	broad.mit.edu	37	2	190595298	190595298	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A1QI-01A-11D-A14W-08	TCGA-DJ-A1QI-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9130d132-2f6b-4b7f-a8a6-05556bb0605b	fafdd2c4-d678-4dd7-9aee-15d743c9f905	g.chr2:190595298C>G	ENST00000520309.1	+	16	3359	c.3271C>G	c.(3271-3273)Cta>Gta	p.L1091V	ANKAR_ENST00000438402.2_Intron|ANKAR_ENST00000281412.6_Intron|ANKAR_ENST00000431575.2_Missense_Mutation_p.L1020V|ANKAR_ENST00000313581.4_Missense_Mutation_p.L1091V	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1091						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TATCCAACTACTAAGAAATCA	0.338																																						uc002uqw.2																			0				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46						c.(3271-3273)Cta>Gta		Homo sapiens ankyrin and armadillo repeat containing (ANKAR), mRNA.							99.0	93.0	95.0					2																	190595298		2203	4300	6503	SO:0001583	missense	150709					integral to membrane	binding	g.chr2:190595298C>G	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.3271C>G	2.37:g.190595298C>G	ENSP00000427882:p.Leu1091Val					ANKAR_uc002uqu.3_Non-coding_Transcript|ANKAR_uc002uqx.2_Intron|ANKAR_uc002uqy.2_Missense_Mutation_p.L187V	p.L1091V	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		15	3359	+			1091					Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	37	c.3271C>G	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	C	16.02	3.003558	0.54254	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000431575;ENST00000374838	T;T;T	0.64260	-0.09;-0.09;-0.09	4.12	4.12	0.48240	.	0.000000	0.47093	D	0.000249	T	0.73410	0.3583	M	0.67953	2.075	0.80722	D	1	D	0.71674	0.998	D	0.71184	0.972	T	0.75470	-0.3306	10	0.72032	D	0.01	-3.497	9.4494	0.38717	0.0:0.8986:0.0:0.1014	.	167	E9PHS9	.	V	1091;1091;1020;167	ENSP00000427882:L1091V;ENSP00000313513:L1091V;ENSP00000393043:L1020V	ENSP00000313513:L1091V	L	+	1	2	ANKAR	190303543	0.982000	0.34865	0.941000	0.38009	0.967000	0.64934	2.699000	0.47077	2.295000	0.77249	0.491000	0.48974	CTA		0.338	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		14	27	0	0	0	1	0	14	27				
ANKRD20A11P	391267	broad.mit.edu	37	21	15352030	15352030	+	RNA	SNP	G	G	T			TCGA-DJ-A1QI-01A-11D-A14W-08	TCGA-DJ-A1QI-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9130d132-2f6b-4b7f-a8a6-05556bb0605b	fafdd2c4-d678-4dd7-9aee-15d743c9f905	g.chr21:15352030G>T	ENST00000344693.5	-	0	728					NR_027270.1				ankyrin repeat domain 20 family, member A11, pseudogene																		TACCTGTGCTGCTTGTCCAGG	0.716																																						uc002yji.2																			0													Homo sapiens ankyrin repeat domain 20 family, member A11, pseudogene (ANKRD20A11P), non-coding RNA.																																						391267							g.chr21:15352030G>T			21q11.2	2011-11-23			ENSG00000215559	ENSG00000215559			42024	pseudogene	pseudogene			"""chromosome 21 open reading frame 81"""	C21orf81			Standard	NR_027270		Approved		uc002yjj.4		OTTHUMG00000074237		21.37:g.15352030G>T						ANKRD20A11P_uc002yjj.4_Non-coding_Transcript								0		-									RNA	SNP	ENST00000344693.5	37	c.736C>A																																																																																					0.716	ANKRD20A11P-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157750.1			4	12	0	0	0	1	0	4	12				
PCCA	5095	broad.mit.edu	37	13	100807310	100807310	+	Silent	SNP	C	C	G			TCGA-DJ-A1QI-01A-11D-A14W-08	TCGA-DJ-A1QI-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9130d132-2f6b-4b7f-a8a6-05556bb0605b	fafdd2c4-d678-4dd7-9aee-15d743c9f905	g.chr13:100807310C>G	ENST00000376285.1	+	5	416	c.378C>G	c.(376-378)gcC>gcG	p.A126A	PCCA_ENST00000376279.3_Silent_p.A126A|PCCA_ENST00000376286.4_Silent_p.A100A|PCCA_ENST00000485946.1_3'UTR	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	126	Biotin carboxylation.				biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|propionyl-CoA carboxylase activity (GO:0004658)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	ACATGGATGCCATCATGGAAG	0.458																																						uc001voo.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26						c.(376-378)gcC>gcG		Homo sapiens propionyl CoA carboxylase, alpha polypeptide (PCCA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	Biotin(DB00121)						115.0	112.0	113.0					13																	100807310		2203	4300	6503	SO:0001819	synonymous_variant	5095				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity	g.chr13:100807310C>G	X14608	CCDS9496.2, CCDS45065.1, CCDS53878.1	13q32	2011-01-14	2010-04-30		ENSG00000175198	ENSG00000175198	6.4.1.3		8653	protein-coding gene	gene with protein product		232000	"""propionyl Coenzyme A carboxylase, alpha polypeptide"""			1427880	Standard	NM_000282		Approved		uc001voo.3	P05165	OTTHUMG00000017284	ENST00000376285.1:c.378C>G	13.37:g.100807310C>G						PCCA_uc010aga.3_Silent_p.A100A|PCCA_uc010tiz.2_Silent_p.A126A	p.A126A	NM_000282	NP_000273	P05165	PCCA_HUMAN			4	484	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		126			Biotin carboxylation.		B4DKY8|B4DPF9|C9JPQ8|Q15979|Q8WXQ7	Silent	SNP	ENST00000376285.1	37	c.378C>G	CCDS9496.2																																																																																				0.458	PCCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045627.2			7	113	0	0	0	1	0	7	113				
FGF7	2252	broad.mit.edu	37	15	49776583	49776583	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DJ-A1QI-01A-11D-A14W-08	TCGA-DJ-A1QI-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9130d132-2f6b-4b7f-a8a6-05556bb0605b	fafdd2c4-d678-4dd7-9aee-15d743c9f905	g.chr15:49776583G>A	ENST00000267843.4	+	4	1078	c.467G>A	c.(466-468)tGg>tAg	p.W156*	FGF7_ENST00000560704.1_3'UTR|FAM227B_ENST00000561064.1_Intron|FAM227B_ENST00000299338.6_Intron	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	156					actin cytoskeleton reorganization (GO:0031532)|branching involved in salivary gland morphogenesis (GO:0060445)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle morphogenesis (GO:0031069)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesenchymal cell proliferation (GO:0010463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein localization to cell surface (GO:0034394)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|response to wounding (GO:0009611)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)		TCAGCTAAATGGACACACAAC	0.348																																						uc001zxn.3																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(466-468)tGg>tAg		Homo sapiens fibroblast growth factor 7 (FGF7), mRNA.	Palifermin(DB00039)						54.0	52.0	53.0					15																	49776583		2034	3876	5910	SO:0001587	stop_gained	2252				actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity	g.chr15:49776583G>A	M60828	CCDS10131.1	15q21.2	2014-01-30	2010-08-18		ENSG00000140285	ENSG00000140285		"""Endogenous ligands"""	3685	protein-coding gene	gene with protein product	"""keratinocyte growth factor"""	148180	"""fibroblast growth factor 7 (keratinocyte growth factor)"""			7749227, 1409637	Standard	NM_002009		Approved	KGF	uc001zxn.3	P21781	OTTHUMG00000131517	ENST00000267843.4:c.467G>A	15.37:g.49776583G>A	ENSP00000267843:p.Trp156*					C15orf33_uc001zxl.2_Intron|C15orf33_uc001zxm.3_Intron	p.W156*	NM_002009	NP_002000	P21781	FGF7_HUMAN		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	3	996	+		all_lung(180;0.00391)	156					H0YNY5|Q6FGV5|Q96FG5	Nonsense_Mutation	SNP	ENST00000267843.4	37	c.467G>A	CCDS10131.1	.	.	.	.	.	.	.	.	.	.	G	37	6.034833	0.97221	.	.	ENSG00000140285	ENST00000267843	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	19.9276	0.97108	0.0:0.0:1.0:0.0	.	.	.	.	X	156	.	ENSP00000267843:W156X	W	+	2	0	FGF7	47563875	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.597000	0.98273	2.801000	0.96364	0.650000	0.86243	TGG		0.348	FGF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254374.3	NM_002009		3	66	0	0	0	1	0	3	66				
IFI44	10561	broad.mit.edu	37	1	79116042	79116042	+	Silent	SNP	T	T	A			TCGA-DJ-A1QI-01A-11D-A14W-08	TCGA-DJ-A1QI-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9130d132-2f6b-4b7f-a8a6-05556bb0605b	fafdd2c4-d678-4dd7-9aee-15d743c9f905	g.chr1:79116042T>A	ENST00000370747.4	+	2	247	c.162T>A	c.(160-162)atT>atA	p.I54I	IFI44_ENST00000495254.1_Intron|IFI44_ENST00000545124.1_Intron	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	54					response to virus (GO:0009615)	cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						TAACAGTGATTTATAGTGAAG	0.393																																						uc001dip.4																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(160-162)atT>atA		Homo sapiens interferon-induced protein 44 (IFI44), mRNA.							181.0	178.0	179.0					1																	79116042		2203	4300	6503	SO:0001819	synonymous_variant	10561				response to virus	cytoplasm		g.chr1:79116042T>A	D28915	CCDS688.1	1p31.1	2013-03-14			ENSG00000137965	ENSG00000137965			16938	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 5"""	610468				7925411	Standard	NM_006417		Approved	MTAP44, p44, TLDC5	uc001dip.4	Q8TCB0	OTTHUMG00000009723	ENST00000370747.4:c.162T>A	1.37:g.79116042T>A						IFI44_uc010orr.1_Silent_p.I54I|IFI44_uc010ors.1_Intron	p.I54I	NM_006417	NP_006408	Q8TCB0	IFI44_HUMAN			1	286	+			54					B7ZAG3|D3DQ80|Q14496	Silent	SNP	ENST00000370747.4	37	c.162T>A	CCDS688.1																																																																																				0.393	IFI44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026825.1	NM_006417		4	153	0	0	0	1	0	4	153				
BHLHE22	27319	broad.mit.edu	37	8	65493711	65493711	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DJ-A1QI-01A-11D-A14W-08	TCGA-DJ-A1QI-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9130d132-2f6b-4b7f-a8a6-05556bb0605b	fafdd2c4-d678-4dd7-9aee-15d743c9f905	g.chr8:65493711delG	ENST00000321870.1	+	1	898	c.364delG	c.(364-366)gggfs	p.G122fs	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	122	Gly-rich.				anterior commissure morphogenesis (GO:0021960)|cerebral cortex regionalization (GO:0021796)|corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|retinal bipolar neuron differentiation (GO:0060040)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						CCTGCCGGCCGGGGCCGCCCT	0.751																																					Colon(113;104 1586 2865 9855 18065)	uc003xvi.3																			0				NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						c.(364-366)gggfs		Homo sapiens basic helix-loop-helix family, member e22 (BHLHE22), mRNA.							4.0	5.0	4.0					8																	65493711		1556	3263	4819	SO:0001589	frameshift_variant	27319				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr8:65493711delG	U80755	CCDS6179.1	8q12.1	2009-01-12	2009-01-12	2009-01-12		ENSG00000180828		"""Basic helix-loop-helix proteins"""	11963	protein-coding gene	gene with protein product		613483	"""trinucleotide repeat containing 20"", ""basic helix-loop-helix domain containing, class B, 5"""	TNRC20, BHLHB5		9225980, 12213201, 18557763	Standard	NM_152414		Approved	CAGL85, Beta3, bHLHe22	uc003xvi.3	Q8NFJ8		ENST00000321870.1:c.364delG	8.37:g.65493711delG	ENSP00000318799:p.Gly122fs					LOC401463_uc003xvh.3_Intron	p.G122fs	NM_152414	NP_689627	Q8NFJ8	BHE22_HUMAN			0	917	+			122			Gly-rich.			Frame_Shift_Del	DEL	ENST00000321870.1	37	c.364delG	CCDS6179.1																																																																																				0.751	BHLHE22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378549.1	NM_152414		2	4						2	4	---	---	---	---
GLG1	2734	broad.mit.edu	37	16	74640592	74640592	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DJ-A1QI-01A-11D-A14W-08	TCGA-DJ-A1QI-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9130d132-2f6b-4b7f-a8a6-05556bb0605b	fafdd2c4-d678-4dd7-9aee-15d743c9f905	g.chr16:74640592delT	ENST00000422840.2	-	1	400	c.401delA	c.(400-402)aacfs	p.N134fs	GLG1_ENST00000205061.5_Frame_Shift_Del_p.N134fs|GLG1_ENST00000447066.2_Frame_Shift_Del_p.N134fs	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	134					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						CACCGCCAGGTTGTTGCTCCA	0.706																																						uc002fcx.3																			0				breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						c.(400-402)aacfs		Homo sapiens golgi glycoprotein 1 (GLG1), transcript variant 1, mRNA.							51.0	56.0	54.0					16																	74640592		2198	4300	6498	SO:0001589	frameshift_variant	2734					Golgi membrane|integral to membrane	receptor binding	g.chr16:74640592delT		CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"""golgi apparatus protein 1"""			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.401delA	16.37:g.74640592delT	ENSP00000405984:p.Asn134fs					GLG1_uc002fcw.4_Frame_Shift_Del_p.N134fs|GLG1_uc002fcy.4_Frame_Shift_Del_p.N134fs|GLG1_uc002fcz.4_5'UTR	p.N134fs	NM_012201	NP_036333	Q92896	GSLG1_HUMAN			0	451	-			134					B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Frame_Shift_Del	DEL	ENST00000422840.2	37	c.401delA	CCDS45527.1																																																																																				0.706	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201		24	49						24	49	---	---	---	---
