#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
PTENP1	11191	broad.mit.edu	37	9	33675379	33675379	+	RNA	SNP	C	C	A			TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr9:33675379C>A	ENST00000532280.1	-	0	2118					NR_023917.1				phosphatase and tensin homolog pseudogene 1 (functional)																		AAAAAGGTCCCTTTTCAGTTT	0.318																																						ENST00000532280.1																			0																																																			0							g.chr9:33675379C>A	AF023139, BC038293, BY797336		9p13.3	2014-09-11	2014-01-16		ENSG00000237984	ENSG00000237984		"""-"""	9589	pseudogene	pseudogene		613531	"""phosphatase and tensin homolog pseudogene 1"""			9393738, 9620558	Standard	NR_023917		Approved	PTEN2, psiPTEN, PTH2, PTEN-rs, PTENpg1	uc003zth.4		OTTHUMG00000000410		9.37:g.33675379C>A								NR_023917.1						0	2118	-									RNA	SNP	ENST00000532280.1	37																																																																																						0.318	PTENP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395145.1	NR_023917		3	33	1	0	0.115264	1	0.115264	3	33				
CWF19L1	55280	broad.mit.edu	37	10	101993060	101993060	+	Missense_Mutation	SNP	C	C	T			TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr10:101993060C>T	ENST00000354105.4	-	14	1627	c.1541G>A	c.(1540-1542)aGc>aAc	p.S514N	CWF19L1_ENST00000478047.1_5'UTR|CWF19L1_ENST00000370379.1_Missense_Mutation_p.S229N|RP11-316M21.6_ENST00000444359.1_RNA	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	514							catalytic activity (GO:0003824)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		GTCTTCCTTGCTGATCTGACA	0.473																																						ENST00000354105.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17						c.(1540-1542)aGc>aAc		CWF19-like 1, cell cycle control (S. pombe)							92.0	92.0	92.0					10																	101993060		2203	4300	6503	SO:0001583	missense	55280						catalytic activity	g.chr10:101993060C>T	AK001860	CCDS7489.1	10q24.31	2008-11-24			ENSG00000095485	ENSG00000095485			25613	protein-coding gene	gene with protein product						14702039	Standard	NM_018294		Approved	FLJ10998	uc001kqq.1	Q69YN2	OTTHUMG00000018901	ENST00000354105.4:c.1541G>A	10.37:g.101993060C>T	ENSP00000326411:p.Ser514Asn					CWF19L1_ENST00000478047.1_5'UTR|CWF19L1_ENST00000370379.1_Missense_Mutation_p.S229N|RP11-316M21.6_ENST00000444359.1_RNA	p.S514N	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)	14	1627	-		Colorectal(252;0.117)	514					B4DHX1|D3DR66|Q5W0I3|Q96HC3|Q9H865|Q9NV13	Missense_Mutation	SNP	ENST00000354105.4	37	c.1541G>A	CCDS7489.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.879123	0.51801	.	.	ENSG00000095485	ENST00000354105;ENST00000370379	T;T	0.33865	1.39;1.39	5.38	5.38	0.77491	Histidine triad motif (1);Cwf19-like protein, C-terminal domain-2 (1);	0.155219	0.64402	D	0.000001	T	0.39436	0.1078	M	0.62723	1.935	0.51233	D	0.999918	B;B;B	0.31153	0.138;0.226;0.31	B;B;B	0.32393	0.105;0.124;0.145	T	0.20174	-1.0283	10	0.36615	T	0.2	-9.9724	16.6367	0.85060	0.0:1.0:0.0:0.0	.	218;377;514	Q69YN2-2;Q69YN2-3;Q69YN2	.;.;C19L1_HUMAN	N	514;229	ENSP00000326411:S514N;ENSP00000359405:S229N	ENSP00000326411:S514N	S	-	2	0	CWF19L1	101983050	0.998000	0.40836	1.000000	0.80357	0.608000	0.37181	0.975000	0.29449	2.499000	0.84300	0.561000	0.74099	AGC		0.473	CWF19L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018294		10	61	0	0	0	1	0	10	61				
APOBEC3B	9582	broad.mit.edu	37	22	39382336	39382336	+	Missense_Mutation	SNP	A	A	G			TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr22:39382336A>G	ENST00000333467.3	+	4	533	c.488A>G	c.(487-489)aAt>aGt	p.N163S	APOBEC3B_ENST00000407298.3_Missense_Mutation_p.N163S|APOBEC3B_ENST00000402182.3_Missense_Mutation_p.N163S	NM_001270411.1|NM_004900.4	NP_001257340.1|NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	163					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|negative regulation of transposition (GO:0010529)	nucleus (GO:0005634)	deoxycytidine deaminase activity (GO:0047844)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					TTTGTGTACAATGAAGGTCAG	0.512																																						ENST00000402182.3																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13						c.(487-489)aAt>aGt		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B							232.0	206.0	215.0					22																	39382336		2197	4283	6480	SO:0001583	missense	9582				negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding	g.chr22:39382336A>G	AK024854	CCDS13982.1, CCDS58807.1	22q13.1-q13.2	2008-05-15			ENSG00000179750	ENSG00000179750		"""Apolipoprotein B mRNA editing enzymes"""	17352	protein-coding gene	gene with protein product	"""phorbolin 3"""	607110				11863358, 10469298	Standard	NM_004900		Approved	PHRBNL, FLJ21201	uc003awo.2	Q9UH17	OTTHUMG00000151085	ENST00000333467.3:c.488A>G	22.37:g.39382336A>G	ENSP00000327459:p.Asn163Ser					APOBEC3B_ENST00000407298.3_Missense_Mutation_p.N163S|APOBEC3B_ENST00000333467.3_Missense_Mutation_p.N163S	p.N163S			Q9UH17	ABC3B_HUMAN			4	543	+	Melanoma(58;0.04)		163					B0QYD2|O95618|Q20WL1|Q5IFJ4|Q7Z2N3|Q7Z6D6|Q9UE74	Missense_Mutation	SNP	ENST00000333467.3	37	c.488A>G	CCDS13982.1	.	.	.	.	.	.	.	.	.	.	.	6.705	0.498824	0.12762	.	.	ENSG00000179750	ENST00000407298;ENST00000402182;ENST00000333467	T;T;T	0.64803	-0.12;-0.12;-0.12	2.31	0.0375	0.14196	APOBEC-like, C-terminal (1);Cytidine deaminase-like (1);	.	.	.	.	T	0.46541	0.1398	L	0.41236	1.265	0.09310	N	1	B;B	0.28233	0.204;0.073	B;B	0.28916	0.096;0.078	T	0.30416	-0.9979	9	0.25751	T	0.34	.	4.5705	0.12207	0.6664:0.0:0.3336:0.0	.	163;163	B0QYD2;Q9UH17	.;ABC3B_HUMAN	S	163	ENSP00000385068:N163S;ENSP00000385060:N163S;ENSP00000327459:N163S	ENSP00000327459:N163S	N	+	2	0	APOBEC3B	37712282	0.000000	0.05858	0.000000	0.03702	0.176000	0.22953	0.649000	0.24843	-0.061000	0.13110	0.172000	0.16884	AAT		0.512	APOBEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321233.1	NM_004900		35	131	0	0	0	1	0	35	131				
MYO3A	53904	broad.mit.edu	37	10	26446395	26446395	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr10:26446395C>T	ENST00000265944.5	+	26	3116	c.2950C>T	c.(2950-2952)Cga>Tga	p.R984*	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	984	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R984*(3)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AGCAAGAATTCGAAGACTAGG	0.363																																						ENST00000265944.5																			3	Substitution - Nonsense(3)	p.R984*(3)	large_intestine(3)	NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(2950-2952)Cga>Tga		myosin IIIA							113.0	110.0	111.0					10																	26446395		2203	4300	6503	SO:0001587	stop_gained	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26446395C>T	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.2950C>T	10.37:g.26446395C>T	ENSP00000265944:p.Arg984*					MYO3A_ENST00000543632.1_Intron	p.R984*	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			26	3116	+			984			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Nonsense_Mutation	SNP	ENST00000265944.5	37	c.2950C>T	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	C	42	9.671764	0.99234	.	.	ENSG00000095777	ENST00000265944	.	.	.	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.8211	0.92097	0.0:1.0:0.0:0.0	.	.	.	.	X	984	.	ENSP00000265944:R984X	R	+	1	2	MYO3A	26486401	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.217000	0.51184	2.524000	0.85096	0.655000	0.94253	CGA		0.363	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		20	73	0	0	0	1	0	20	73				
PPP2CA	5515	broad.mit.edu	37	5	133541656	133541656	+	Missense_Mutation	SNP	C	C	T			TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr5:133541656C>T	ENST00000481195.1	-	2	549	c.269G>A	c.(268-270)gGa>gAa	p.G90E	PPP2CA_ENST00000231504.5_5'UTR|CDKL3_ENST00000609654.1_Missense_Mutation_p.G440E|CTD-2410N18.5_ENST00000519718.1_Intron|CTD-2410N18.4_ENST00000518409.1_RNA|CDKL3_ENST00000609383.1_3'UTR	NM_002715.2	NP_002706.1	P67775	PP2AA_HUMAN	protein phosphatase 2, catalytic subunit, alpha isozyme	90					apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|meiotic nuclear division (GO:0007126)|mesoderm development (GO:0007498)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein dephosphorylation (GO:0006470)|protein heterotrimerization (GO:0070208)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of protein autophosphorylation (GO:0031952)|regulation of protein catabolic process (GO:0042176)|regulation of receptor activity (GO:0010469)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein phosphatase type 2A complex (GO:0000159)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Vitamin E(DB00163)	TGAATAATATCCTCTGTCAAC	0.368																																						ENST00000481195.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(1)	12						c.(268-270)gGa>gAa		protein phosphatase 2, catalytic subunit, alpha isozyme							113.0	107.0	109.0					5																	133541656		2203	4300	6503	SO:0001583	missense	5515							g.chr5:133541656C>T		CCDS4173.1	5q31.1	2013-01-24	2010-03-05		ENSG00000113575	ENSG00000113575	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9299	protein-coding gene	gene with protein product	"""protein phosphatase 2A catalytic subunit, alpha isoform"""	176915	"""protein phosphatase 2 (formerly 2A), catalytic subunit, alpha isoform"""			8383590	Standard	NM_002715		Approved	PP2Calpha		P67775	OTTHUMG00000129119	ENST00000481195.1:c.269G>A	5.37:g.133541656C>T	ENSP00000418447:p.Gly90Glu					CDKL3_ENST00000518409.1_5'UTR|PPP2CA_ENST00000231504.5_5'UTR	p.G90E	NM_002715.2	NP_002706.1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		2	549	-								P05323|P13197	Missense_Mutation	SNP	ENST00000481195.1	37	c.269G>A	CCDS4173.1	.	.	.	.	.	.	.	.	.	.	C	33	5.235209	0.95207	.	.	ENSG00000113575	ENST00000481195;ENST00000522385;ENST00000523082	T;T;T	0.28255	1.62;1.62;1.62	5.34	5.34	0.76211	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.80944	0.4721	H	0.99998	5.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.91540	0.5249	10	0.87932	D	0	-11.2342	19.3944	0.94601	0.0:1.0:0.0:0.0	.	440;90	B7Z2C5;P67775	.;PP2AA_HUMAN	E	90;25;77	ENSP00000418447:G90E;ENSP00000430869:G25E;ENSP00000428816:G77E	ENSP00000418447:G90E	G	-	2	0	PPP2CA	133569555	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.665000	0.90641	0.591000	0.81541	GGA		0.368	PPP2CA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251165.1	NM_002715		10	34	0	0	0	1	0	10	34				
ADAMTS1	9510	broad.mit.edu	37	21	28212235	28212235	+	Missense_Mutation	SNP	C	C	T			TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr21:28212235C>T	ENST00000284984.3	-	6	2265	c.1811G>A	c.(1810-1812)cGc>cAc	p.R604H		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	604	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		GGATCTGTAGCGCACTCGTTT	0.473																																						ENST00000284984.2																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42						c.(1810-1812)cGc>cAc		ADAM metallopeptidase with thrombospondin type 1 motif, 1							178.0	155.0	163.0					21																	28212235		2203	4300	6503	SO:0001583	missense	9510				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	g.chr21:28212235C>T	AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	217	protein-coding gene	gene with protein product		605174	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"""			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.1811G>A	21.37:g.28212235C>T	ENSP00000284984:p.Arg604His						p.R604H	NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN		Lung(58;0.215)	6	2265	-		Breast(209;0.000962)	604			TSP type-1 1.		D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	ENST00000284984.3	37	c.1811G>A	CCDS33524.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.224138	0.58668	.	.	ENSG00000154734	ENST00000284984	T	0.06687	3.27	4.98	4.98	0.66077	.	.	.	.	.	T	0.17365	0.0417	M	0.64997	1.995	0.54753	D	0.999985	D	0.55172	0.97	P	0.56788	0.806	T	0.00148	-1.1989	9	0.66056	D	0.02	.	6.1955	0.20548	0.0:0.7835:0.0:0.2165	.	604	Q9UHI8	ATS1_HUMAN	H	604	ENSP00000284984:R604H	ENSP00000284984:R604H	R	-	2	0	ADAMTS1	27134106	1.000000	0.71417	1.000000	0.80357	0.096000	0.18686	5.670000	0.68088	2.758000	0.94735	0.563000	0.77884	CGC		0.473	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2			5	112	0	0	0	1	0	5	112				
F2R	2149	broad.mit.edu	37	5	76028613	76028613	+	Missense_Mutation	SNP	C	C	T			TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr5:76028613C>T	ENST00000319211.4	+	2	828	c.563C>T	c.(562-564)gCc>gTc	p.A188V		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	188					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPKK activity (GO:0000186)|anatomical structure morphogenesis (GO:0009653)|blood coagulation (GO:0007596)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|G-protein coupled receptor signaling pathway (GO:0007186)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of renin secretion into blood stream (GO:1900134)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of blood coagulation (GO:0030194)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood coagulation (GO:0030193)|regulation of interleukin-1 beta production (GO:0032651)|regulation of sensory perception of pain (GO:0051930)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|STAT protein import into nucleus (GO:0007262)|tyrosine phosphorylation of STAT protein (GO:0007260)	caveola (GO:0005901)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|platelet dense tubular network (GO:0031094)|postsynaptic membrane (GO:0045211)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	AACATGTACGCCTCTATCTTG	0.493																																						ENST00000319211.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16						c.(562-564)gCc>gTc		coagulation factor II (thrombin) receptor	Streptokinase(DB00086)						190.0	188.0	189.0					5																	76028613		2203	4300	6503	SO:0001583	missense	2149				activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity	g.chr5:76028613C>T	M62424	CCDS4032.1	5q13	2012-08-08			ENSG00000181104	ENSG00000181104		"""GPCR / Class A : Protease activated receptors"""	3537	protein-coding gene	gene with protein product		187930				8395910	Standard	NM_001992		Approved	TR, CF2R, PAR1, PAR-1	uc003ken.4	P25116	OTTHUMG00000131299	ENST00000319211.4:c.563C>T	5.37:g.76028613C>T	ENSP00000321326:p.Ala188Val						p.A188V	NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN		all cancers(79;4.43e-43)	2	828	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)	188					Q53XV0|Q96RF7|Q9BUN4	Missense_Mutation	SNP	ENST00000319211.4	37	c.563C>T	CCDS4032.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.989875	0.93106	.	.	ENSG00000181104	ENST00000319211	T	0.75704	-0.96	4.89	4.89	0.63831	GPCR, rhodopsin-like superfamily (1);	0.103989	0.64402	D	0.000003	T	0.81847	0.4909	M	0.63169	1.94	0.80722	D	1	D	0.61080	0.989	P	0.62298	0.9	T	0.83144	-0.0107	10	0.72032	D	0.01	-32.3572	12.8734	0.57978	0.0:0.7058:0.2942:0.0	.	188	P25116	PAR1_HUMAN	V	188	ENSP00000321326:A188V	ENSP00000321326:A188V	A	+	2	0	F2R	76064369	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	6.768000	0.74980	2.684000	0.91462	0.561000	0.74099	GCC		0.493	F2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254068.2			11	129	0	0	0	1	0	11	129				
NTRK1	4914	broad.mit.edu	37	1	156849884	156849884	+	Missense_Mutation	SNP	G	G	A			TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr1:156849884G>A	ENST00000524377.1	+	16	2181	c.2140G>A	c.(2140-2142)Ggc>Agc	p.G714S	NTRK1_ENST00000368196.3_Missense_Mutation_p.G708S|NTRK1_ENST00000358660.3_Missense_Mutation_p.G711S|NTRK1_ENST00000392302.2_Missense_Mutation_p.G678S|NTRK1_ENST00000531606.1_3'UTR	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	714	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		G -> S (in CIPA; processed as wild-type but shows significantly diminished autophosphorylation in both neuronal and non-neuronal cells). {ECO:0000269|PubMed:10330344}.		activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	GTGGAGCTTCGGCGTGGTGCT	0.647			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																												ENST00000368196.3				Dom	yes		1	1q21-q22	4914	T	"""neurotrophic tyrosine kinase, receptor, type 1"""			E	"""TPM3, TPR, TFG"""		papillary thyroid		0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	GRCh37	CM990980	NTRK1	M		c.(2122-2124)Ggc>Agc		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)						95.0	87.0	89.0					1																	156849884		2203	4300	6503	SO:0001583	missense	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156849884G>A	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.2140G>A	1.37:g.156849884G>A	ENSP00000431418:p.Gly714Ser	TSP Lung(10;0.080)				NTRK1_ENST00000524377.1_Missense_Mutation_p.G714S|NTRK1_ENST00000531606.1_3'UTR|NTRK1_ENST00000358660.3_Missense_Mutation_p.G711S|NTRK1_ENST00000392302.2_Missense_Mutation_p.G678S	p.G708S	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN			15	2242	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		714			Protein kinase.		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	ENST00000524377.1	37	c.2122G>A	CCDS1161.1	.	.	.	.	.	.	.	.	.	.	G	34	5.329148	0.95733	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	D;D;D;D	0.99150	-5.49;-5.49;-5.49;-5.49	4.23	4.23	0.50019	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000023	D	0.99399	0.9788	M	0.91510	3.215	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.98607	1.0661	10	0.87932	D	0	.	15.7052	0.77573	0.0:0.0:1.0:0.0	.	711;708;714;678	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	S	678;708;714;711	ENSP00000376120:G678S;ENSP00000357179:G708S;ENSP00000431418:G714S;ENSP00000351486:G711S	ENSP00000351486:G711S	G	+	1	0	NTRK1	155116508	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	9.342000	0.97044	2.362000	0.80069	0.561000	0.74099	GGC		0.647	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		3	71	0	0	0	1	0	3	71				
RBM48	84060	broad.mit.edu	37	7	92164118	92164118	+	Missense_Mutation	SNP	G	G	A	rs200432326		TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr7:92164118G>A	ENST00000265732.5	+	4	892	c.851G>A	c.(850-852)cGc>cAc	p.R284H	RBM48_ENST00000481551.1_Missense_Mutation_p.R284H	NM_032120.2	NP_115496.2	Q5RL73	RBM48_HUMAN	RNA binding motif protein 48	284						nucleus (GO:0005634)	RNA binding (GO:0003723)	p.R284H(1)									CTGCAGGAGCGCAAAAGAAGA	0.428																																						ENST00000481551.1																			1	Substitution - Missense(1)	p.R284H(1)	lung(1)								c.(850-852)cGc>cAc		RNA binding motif protein 48		G	HIS/ARG	0,3810		0,0,1905	58.0	58.0	58.0		851	5.4	1.0	7		58	4,8210		0,4,4103	yes	missense	C7orf64	NM_032120.2	29	0,4,6008	AA,AG,GG		0.0487,0.0,0.0333	probably-damaging	284/368	92164118	4,12020	1905	4107	6012	SO:0001583	missense	84060						nucleotide binding	g.chr7:92164118G>A	AL136619	CCDS43615.1	7q21.2	2013-02-12	2011-12-09	2011-12-09	ENSG00000127993	ENSG00000127993		"""RNA binding motif (RRM) containing"""	21785	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 64"""	C7orf64			Standard	NM_032120		Approved	DKFZp564O0523, HSPC304	uc003ulz.3	Q5RL73	OTTHUMG00000159535	ENST00000265732.5:c.851G>A	7.37:g.92164118G>A	ENSP00000265732:p.Arg284His					RBM48_ENST00000265732.5_Missense_Mutation_p.R284H	p.R284H			Q5RL73	CG064_HUMAN			4	892	+			284					B7Z2K5|B7ZL51|Q5H9T2|Q8IYW7|Q96NS0|Q9H0V7	Missense_Mutation	SNP	ENST00000265732.5	37	c.851G>A	CCDS43615.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.784595	0.70222	0.0	4.87E-4	ENSG00000127993	ENST00000265732;ENST00000481551;ENST00000450580	.	.	.	5.37	5.37	0.77165	.	0.199667	0.49916	D	0.000131	T	0.76800	0.4038	L	0.53249	1.67	0.58432	D	0.999999	D;D	0.89917	1.0;0.966	D;B	0.79108	0.992;0.272	T	0.77892	-0.2418	9	0.87932	D	0	2.361	19.3052	0.94158	0.0:0.0:1.0:0.0	.	284;284	B7Z2K5;Q5RL73	.;CG064_HUMAN	H	284	.	ENSP00000265732:R284H	R	+	2	0	C7orf64	92002054	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.144000	0.77357	2.793000	0.96121	0.591000	0.81541	CGC		0.428	RBM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356076.1	NM_032120		3	41	0	0	0	1	0	3	41				
PTPRH	5794	broad.mit.edu	37	19	55713580	55713580	+	Missense_Mutation	SNP	C	C	T			TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr19:55713580C>T	ENST00000376350.3	-	6	1019	c.997G>A	c.(997-999)Gag>Aag	p.E333K	PTPRH_ENST00000263434.5_Missense_Mutation_p.E155K|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	333	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CCAGTGTACTCAACCCCGTAG	0.567																																						ENST00000376350.3																			0				breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67						c.(997-999)Gag>Aag		protein tyrosine phosphatase, receptor type, H							138.0	117.0	124.0					19																	55713580		2203	4300	6503	SO:0001583	missense	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55713580C>T		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.997G>A	19.37:g.55713580C>T	ENSP00000365528:p.Glu333Lys					PTPRH_ENST00000263434.5_Missense_Mutation_p.E155K|PTPRH_ENST00000588559.1_5'UTR	p.E333K	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	6	1019	-		Renal(1328;0.245)	333			Fibronectin type-III 4.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	c.997G>A	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	C	8.463	0.855674	0.17106	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.57752	0.38;0.38	4.02	0.142	0.14816	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.38692	0.1050	L	0.34521	1.04	0.09310	N	1	P;B;P	0.38395	0.507;0.452;0.629	B;B;B	0.40702	0.338;0.228;0.326	T	0.21793	-1.0235	9	0.29301	T	0.29	.	5.7905	0.18357	0.0:0.2023:0.4243:0.3734	.	155;155;333	C9JCH2;Q9HD43-2;Q9HD43	.;.;PTPRH_HUMAN	K	333;155	ENSP00000365528:E333K;ENSP00000263434:E155K	ENSP00000263434:E155K	E	-	1	0	PTPRH	60405392	0.001000	0.12720	0.363000	0.25875	0.003000	0.03518	0.246000	0.18160	0.396000	0.25283	-0.518000	0.04402	GAG		0.567	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			4	73	0	0	0	1	0	4	73				
FGL2	10875	broad.mit.edu	37	7	76828504	76828504	+	Missense_Mutation	SNP	G	G	T			TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr7:76828504G>T	ENST00000248598.5	-	1	639	c.607C>A	c.(607-609)Cgt>Agt	p.R203S	RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	203						extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)		p.R203S(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						ATACCTGGACGTGACTGTATT	0.323																																						ENST00000248598.5																			1	Substitution - Missense(1)	p.R203S(1)	prostate(1)	breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						c.(607-609)Cgt>Agt		fibrinogen-like 2							115.0	113.0	114.0					7																	76828504		2203	4300	6503	SO:0001583	missense	10875				signal transduction	fibrinogen complex	receptor binding	g.chr7:76828504G>T	Z36531	CCDS5591.1	7q11.23	2013-02-06			ENSG00000127951	ENSG00000127951		"""Fibrinogen C domain containing"""	3696	protein-coding gene	gene with protein product		605351				7642106	Standard	NM_006682		Approved	pT49, T49	uc003ugb.3	Q14314	OTTHUMG00000130681	ENST00000248598.5:c.607C>A	7.37:g.76828504G>T	ENSP00000248598:p.Arg203Ser					CCDC146_ENST00000285871.4_Intron|CCDC146_ENST00000431197.1_Intron	p.R203S	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN			1	639	-			203						Missense_Mutation	SNP	ENST00000248598.5	37	c.607C>A	CCDS5591.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.260032	0.23051	.	.	ENSG00000127951	ENST00000248598	T	0.57752	0.38	6.17	-0.872	0.10638	.	1.751190	0.02594	N	0.100349	T	0.26557	0.0649	N	0.01874	-0.695	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.24154	-1.0168	10	0.09338	T	0.73	.	11.8083	0.52169	0.0:0.0962:0.2882:0.6156	.	203	Q14314	FGL2_HUMAN	S	203	ENSP00000248598:R203S	ENSP00000248598:R203S	R	-	1	0	FGL2	76666440	0.001000	0.12720	0.000000	0.03702	0.988000	0.76386	0.531000	0.23052	0.113000	0.18004	0.655000	0.94253	CGT		0.323	FGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253176.1	NM_006682		5	87	1	0	0.000602214	1	0.000655745	5	87				
SSX7	280658	broad.mit.edu	37	X	52681974	52681974	+	Nonsense_Mutation	SNP	C	C	A			TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chrX:52681974C>A	ENST00000298181.5	-	3	288	c.130G>T	c.(130-132)Gag>Tag	p.E44*		NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7	44	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					CTGATTTTCTCCAAGGATTTC	0.383																																						ENST00000298181.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16						c.(130-132)Gag>Tag		synovial sarcoma, X breakpoint 7							183.0	143.0	157.0					X																	52681974		2203	4299	6502	SO:0001587	stop_gained	280658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:52681974C>A	BK000687	CCDS14343.1	Xp11.23	2011-02-10			ENSG00000187754	ENSG00000187754			19653	protein-coding gene	gene with protein product		300542				12216073	Standard	NM_173358		Approved		uc004dqx.1	Q7RTT5	OTTHUMG00000021572	ENST00000298181.5:c.130G>T	X.37:g.52681974C>A	ENSP00000298181:p.Glu44*						p.E44*	NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN			3	288	-	Ovarian(276;0.236)		44			KRAB-related.			Nonsense_Mutation	SNP	ENST00000298181.5	37	c.130G>T	CCDS14343.1	.	.	.	.	.	.	.	.	.	.	N	12.20	1.867984	0.32977	.	.	ENSG00000187754	ENST00000298181	.	.	.	0.56	-1.12	0.09808	.	0.588356	0.15379	N	0.265404	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	.	.	.	.	.	.	.	X	44	.	ENSP00000298181:E44X	E	-	1	0	SSX7	52698699	0.007000	0.16637	0.002000	0.10522	0.006000	0.05464	-0.862000	0.04263	-0.597000	0.05813	0.174000	0.16983	GAG		0.383	SSX7-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056671.1	NM_173358		27	56	1	0	8.88839e-20	1	1.08883e-19	27	56				
PSG8	440533	broad.mit.edu	37	19	43268205	43268205	+	Missense_Mutation	SNP	C	C	T	rs142736244		TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr19:43268205C>T	ENST00000306511.4	-	2	390	c.293G>A	c.(292-294)cGa>cAa	p.R98Q	PSG8_ENST00000401467.2_Missense_Mutation_p.R98Q|PSG8_ENST00000404209.4_Missense_Mutation_p.R98Q|PSG8_ENST00000406636.3_Intron	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	98	Ig-like V-type.					extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TATTGTTTCTCGTCCACTGTA	0.423													.|||	1	0.000199681	0.0	0.0	5008	,	,		22230	0.001		0.0	False		,,,				2504	0.0					ENST00000404209.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(292-294)cGa>cAa		pregnancy specific beta-1-glycoprotein 8							345.0	354.0	351.0					19																	43268205		2203	4299	6502	SO:0001583	missense	0					extracellular region		g.chr19:43268205C>T	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.293G>A	19.37:g.43268205C>T	ENSP00000305005:p.Arg98Gln					PSG8_ENST00000406636.3_Intron|PSG8_ENST00000401467.2_Missense_Mutation_p.R98Q|PSG8_ENST00000306511.4_Missense_Mutation_p.R98Q	p.R98Q	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN			2	389	-		Prostate(69;0.00899)	98			Ig-like V-type.		A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	c.293G>A	CCDS33037.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	14.10	2.434111	0.43224	.	.	ENSG00000124467	ENST00000404209;ENST00000401467;ENST00000407488;ENST00000306511	T;T;T	0.72282	-0.64;-0.64;-0.64	1.35	0.254	0.15557	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84297	0.5441	H	0.94582	3.555	0.09310	N	1	P;D;D;D;D	0.89917	0.864;0.999;0.998;0.999;1.0	P;P;D;D;D	0.71414	0.609;0.899;0.954;0.954;0.973	T	0.70691	-0.4802	9	0.72032	D	0.01	.	3.81	0.08793	0.0:0.7496:0.0:0.2504	.	98;98;98;98;98	B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3	.;PSG8_HUMAN;.;.;.	Q	98	ENSP00000385869:R98Q;ENSP00000386090:R98Q;ENSP00000305005:R98Q	ENSP00000305005:R98Q	R	-	2	0	PSG8	47960045	0.000000	0.05858	0.001000	0.08648	0.200000	0.23975	-0.080000	0.11339	0.143000	0.18926	0.184000	0.17185	CGA		0.423	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			7	308	0	0	0	1	0	7	308				
NET1	10276	broad.mit.edu	37	10	5493864	5493864	+	Missense_Mutation	SNP	A	A	C			TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr10:5493864A>C	ENST00000355029.4	+	4	469	c.327A>C	c.(325-327)agA>agC	p.R109S	NET1_ENST00000542715.1_5'UTR|NET1_ENST00000380359.3_Missense_Mutation_p.R55S	NM_001047160.2	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	109					apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|myoblast migration (GO:0051451)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						CTCCTGTAAGAAATGGAGCTG	0.403																																						ENST00000355029.4																			0				breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						c.(325-327)agA>agC		neuroepithelial cell transforming 1							137.0	144.0	142.0					10																	5493864		2203	4300	6503	SO:0001583	missense	10276				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity	g.chr10:5493864A>C	AJ010046	CCDS7067.1, CCDS41483.1	10p15	2013-01-10	2008-09-12		ENSG00000173848	ENSG00000173848		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14592	protein-coding gene	gene with protein product		606450				8649828	Standard	NR_073040		Approved	ARHGEF8, NET1A	uc001iia.4	Q7Z628	OTTHUMG00000017596	ENST00000355029.4:c.327A>C	10.37:g.5493864A>C	ENSP00000347134:p.Arg109Ser					NET1_ENST00000380359.3_Missense_Mutation_p.R55S|NET1_ENST00000542715.1_5'UTR	p.R109S	NM_001047160.1	NP_001040625.1	Q7Z628	ARHG8_HUMAN			4	469	+			109					Q12773|Q96D82|Q99903|Q9UEN6	Missense_Mutation	SNP	ENST00000355029.4	37	c.327A>C	CCDS41483.1	.	.	.	.	.	.	.	.	.	.	A	15.49	2.850504	0.51270	.	.	ENSG00000173848	ENST00000355029;ENST00000380359	T;T	0.11821	2.77;2.74	5.73	5.73	0.89815	.	0.000000	0.46145	D	0.000320	T	0.18467	0.0443	M	0.66939	2.045	0.80722	D	1	B;B	0.28439	0.212;0.212	B;B	0.25987	0.065;0.065	T	0.01345	-1.1379	10	0.41790	T	0.15	-23.0059	14.8453	0.70257	1.0:0.0:0.0:0.0	.	55;109	Q5SQI7;Q7Z628	.;ARHG8_HUMAN	S	109;55	ENSP00000347134:R109S;ENSP00000369717:R55S	ENSP00000347134:R109S	R	+	3	2	NET1	5483864	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.036000	0.57304	2.185000	0.69588	0.460000	0.39030	AGA		0.403	NET1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046553.3	NM_005863		15	103	0	0	0	1	0	15	103				
CWF19L1	55280	broad.mit.edu	37	10	101993058	101993058	+	Nonsense_Mutation	SNP	T	T	A			TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr10:101993058T>A	ENST00000354105.4	-	14	1629	c.1543A>T	c.(1543-1545)Aag>Tag	p.K515*	CWF19L1_ENST00000478047.1_5'UTR|CWF19L1_ENST00000370379.1_Nonsense_Mutation_p.K230*|RP11-316M21.6_ENST00000444359.1_RNA	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	515							catalytic activity (GO:0003824)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		TCGTCTTCCTTGCTGATCTGA	0.473																																						ENST00000354105.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17						c.(1543-1545)Aag>Tag		CWF19-like 1, cell cycle control (S. pombe)							93.0	93.0	93.0					10																	101993058		2203	4300	6503	SO:0001587	stop_gained	55280						catalytic activity	g.chr10:101993058T>A	AK001860	CCDS7489.1	10q24.31	2008-11-24			ENSG00000095485	ENSG00000095485			25613	protein-coding gene	gene with protein product						14702039	Standard	NM_018294		Approved	FLJ10998	uc001kqq.1	Q69YN2	OTTHUMG00000018901	ENST00000354105.4:c.1543A>T	10.37:g.101993058T>A	ENSP00000326411:p.Lys515*					CWF19L1_ENST00000478047.1_5'UTR|CWF19L1_ENST00000370379.1_Nonsense_Mutation_p.K230*|RP11-316M21.6_ENST00000444359.1_RNA	p.K515*	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)	14	1629	-		Colorectal(252;0.117)	515					B4DHX1|D3DR66|Q5W0I3|Q96HC3|Q9H865|Q9NV13	Nonsense_Mutation	SNP	ENST00000354105.4	37	c.1543A>T	CCDS7489.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.573962	0.86542	.	.	ENSG00000095485	ENST00000354105;ENST00000370379	.	.	.	5.38	4.28	0.50868	.	0.105420	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.5187	9.2445	0.37518	0.0:0.0:0.3353:0.6647	.	.	.	.	X	515;230	.	ENSP00000326411:K515X	K	-	1	0	CWF19L1	101983048	1.000000	0.71417	1.000000	0.80357	0.610000	0.37248	2.460000	0.45031	2.023000	0.59567	0.459000	0.35465	AAG		0.473	CWF19L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018294		10	60	0	0	0	1	0	10	60				
FSHR	2492	broad.mit.edu	37	2	49190290	49190290	+	Missense_Mutation	SNP	C	C	T	rs150235567		TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr2:49190290C>T	ENST00000406846.2	-	10	1789	c.1670G>A	c.(1669-1671)cGg>cAg	p.R557Q	FSHR_ENST00000346173.3_Missense_Mutation_p.R495Q|FSHR_ENST00000304421.4_Missense_Mutation_p.R531Q|FSHR_ENST00000541117.1_Missense_Mutation_p.R293Q	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	557					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	GTTGGGGTTCCGCACTGTGAG	0.527									Gonadal Dysgenesis, 46 XX																													ENST00000406846.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(1669-1671)cGg>cAg		follicle stimulating hormone receptor	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	114.0	94.0	101.0		1670,1592	5.3	1.0	2	dbSNP_134	101	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FSHR	NM_000145.3,NM_181446.2	43,43	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	557/696,531/670	49190290	2,13004	2203	4300	6503	SO:0001583	missense	0	Gonadal Dysgenesis, 46 XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49190290C>T		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.1670G>A	2.37:g.49190290C>T	ENSP00000384708:p.Arg557Gln					FSHR_ENST00000346173.3_Missense_Mutation_p.R495Q|FSHR_ENST00000541117.1_Missense_Mutation_p.R293Q|FSHR_ENST00000304421.4_Missense_Mutation_p.R531Q	p.R557Q	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		10	1789	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	557					A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	c.1670G>A	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.223604	0.58668	2.27E-4	1.16E-4	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000541117	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.35	5.35	0.76521	GPCR, rhodopsin-like superfamily (1);	0.048531	0.85682	D	0.000000	T	0.66896	0.2836	M	0.76938	2.355	0.52501	D	0.999956	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.999	T	0.65623	-0.6123	9	.	.	.	.	18.5892	0.91202	0.0:1.0:0.0:0.0	.	531;495;557	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	Q	557;495;531;293	ENSP00000384708:R557Q;ENSP00000333908:R495Q;ENSP00000306780:R531Q;ENSP00000444172:R293Q	.	R	-	2	0	FSHR	49043794	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.628000	0.61282	2.941000	0.99782	0.655000	0.94253	CGG		0.527	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			4	28	0	0	0	1	0	4	28				
IFT74	80173	broad.mit.edu	37	9	27062709	27062709	+	Missense_Mutation	SNP	C	C	A			TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr9:27062709C>A	ENST00000443698.1	+	20	1949	c.1778C>A	c.(1777-1779)gCt>gAt	p.A593D	IFT74_ENST00000380062.5_Missense_Mutation_p.A593D|IFT74_ENST00000433700.1_Missense_Mutation_p.A593D	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN	intraflagellar transport 74	593					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|keratinocyte development (GO:0003334)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|nucleus (GO:0005634)	beta-tubulin binding (GO:0048487)|chromatin binding (GO:0003682)			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		ATCGTGGATGCTTTACATAGC	0.388																																						ENST00000443698.1																			0				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						c.(1777-1779)gCt>gAt		intraflagellar transport 74 homolog (Chlamydomonas)							102.0	94.0	96.0					9																	27062709		1870	4099	5969	SO:0001583	missense	80173					cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum		g.chr9:27062709C>A	AK023707	CCDS43793.1, CCDS47955.1	9p21.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000096872	ENSG00000096872		"""Intraflagellar transport homologs"""	21424	protein-coding gene	gene with protein product	"""capillary morphogenesis protein 1"""	608040	"""coiled-coil domain containing 2"", ""intraflagellar transport 74 homolog (Chlamydomonas)"""	CCDC2		11683410	Standard	NM_001099223		Approved	CMG1, CMG-1, FLJ22621	uc003zqg.4	Q96LB3	OTTHUMG00000021028	ENST00000443698.1:c.1778C>A	9.37:g.27062709C>A	ENSP00000404122:p.Ala593Asp					IFT74_ENST00000380062.5_Missense_Mutation_p.A593D|IFT74_ENST00000433700.1_Missense_Mutation_p.A593D	p.A593D	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)	20	1949	+		all_neural(11;2.36e-10)	593					Q3B789|Q5VY34|Q6PGQ8|Q9H643|Q9H8G7	Missense_Mutation	SNP	ENST00000443698.1	37	c.1778C>A	CCDS43793.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.985062	0.74474	.	.	ENSG00000096872	ENST00000433700;ENST00000443698;ENST00000380062	T;T;T	0.12039	2.72;2.72;2.72	6.07	6.07	0.98685	.	0.304109	0.34507	N	0.003904	T	0.19248	0.0462	L	0.51422	1.61	0.51233	D	0.999911	P	0.42203	0.773	B	0.40534	0.332	T	0.00287	-1.1846	10	0.41790	T	0.15	-3.8062	20.6525	0.99598	0.0:1.0:0.0:0.0	.	593	Q96LB3	IFT74_HUMAN	D	593	ENSP00000389224:A593D;ENSP00000404122:A593D;ENSP00000369402:A593D	ENSP00000369402:A593D	A	+	2	0	IFT74	27052709	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	2.358000	0.44134	2.890000	0.99128	0.585000	0.79938	GCT		0.388	IFT74-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055476.2	NM_025103		3	62	1	0	6.4e-05	1	7.29302e-05	3	62				
SNX16	64089	broad.mit.edu	37	8	82727590	82727590	+	Silent	SNP	C	C	A			TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr8:82727590C>A	ENST00000345957.4	-	5	929	c.651G>T	c.(649-651)ccG>ccT	p.P217P	SNX16_ENST00000353788.4_Silent_p.P188P|SNX16_ENST00000396330.2_Silent_p.P217P|RP13-923O23.6_ENST00000524337.1_RNA	NM_152836.2	NP_690049.1	P57768	SNX16_HUMAN	sorting nexin 16	217	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				early endosome to late endosome transport (GO:0045022)|endosome to lysosome transport (GO:0008333)|protein targeting to lysosome (GO:0006622)	early endosome (GO:0005769)|extrinsic component of endosome membrane (GO:0031313)|late endosome (GO:0005770)|lysosome (GO:0005764)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			large_intestine(1)|ovary(1)|pancreas(1)|skin(2)	5						CAAATGGACCCGGTGGATCAT	0.338																																						ENST00000396330.2																			0				large_intestine(1)|ovary(1)|pancreas(1)|skin(2)	5						c.(649-651)ccG>ccT		sorting nexin 16							100.0	90.0	94.0					8																	82727590		2203	4300	6503	SO:0001819	synonymous_variant	64089				cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome	early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome	identical protein binding|phosphatidylinositol binding	g.chr8:82727590C>A	AF305779	CCDS6234.1, CCDS6235.1	8q21.13	2011-05-03			ENSG00000104497	ENSG00000104497		"""Sorting nexins"""	14980	protein-coding gene	gene with protein product		614903				12461558, 12813048	Standard	NM_152837		Approved		uc003ycn.3	P57768	OTTHUMG00000164727	ENST00000345957.4:c.651G>T	8.37:g.82727590C>A						SNX16_ENST00000353788.4_Silent_p.P188P|SNX16_ENST00000345957.4_Silent_p.P217P|RP13-923O23.6_ENST00000524337.1_RNA	p.P217P	NM_022133.3	NP_071416.2	P57768	SNX16_HUMAN			6	1157	-			217			PX.		A8K4D8|Q658L0|Q8N4U3	Silent	SNP	ENST00000345957.4	37	c.651G>T	CCDS6234.1																																																																																				0.338	SNX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379929.1	NM_022133		6	36	1	0	1.06961e-07	1	1.27832e-07	6	36				
LRRIQ1	84125	broad.mit.edu	37	12	85518199	85518199	+	Silent	SNP	G	G	A			TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr12:85518199G>A	ENST00000393217.2	+	17	3970	c.3909G>A	c.(3907-3909)aaG>aaA	p.K1303K		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1303										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AAGACAGCAAGGCAAGCAGTA	0.398																																						ENST00000393217.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(3907-3909)aaG>aaA		leucine-rich repeats and IQ motif containing 1							169.0	184.0	179.0					12																	85518199		2203	4300	6503	SO:0001819	synonymous_variant	84125							g.chr12:85518199G>A	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.3909G>A	12.37:g.85518199G>A							p.K1303K	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	17	3970	+			1303					Q567P4|Q9BS17|Q9HA36	Silent	SNP	ENST00000393217.2	37	c.3909G>A	CCDS41816.1																																																																																				0.398	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		12	159	0	0	0	1	0	12	159				
HRG	3273	broad.mit.edu	37	3	186386777	186386777	+	Silent	SNP	G	G	A	rs143118011		TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr3:186386777G>A	ENST00000232003.4	+	2	317	c.237G>A	c.(235-237)tcG>tcA	p.S79S		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	79	Cystatin 1.|Interaction with ATP5A1.		S -> L (in dbSNP:rs4516605).		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070)	blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		CGGACTGTTCGGTCCTATCCA	0.428													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18840	0.0		0.0	False		,,,				2504	0.0					ENST00000232003.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(235-237)tcG>tcA		histidine-rich glycoprotein							117.0	113.0	114.0					3																	186386777		2203	4300	6503	SO:0001819	synonymous_variant	3273				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding	g.chr3:186386777G>A		CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905			5181	protein-coding gene	gene with protein product	"""histidine-proline rich glycoprotein"", ""thrombophilia due to elevated HRG"""	142640				1678514	Standard	NM_000412		Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	ENST00000232003.4:c.237G>A	3.37:g.186386777G>A							p.S79S	NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)	2	317	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		79		S -> L (in dbSNP:rs4516605).	Cystatin 1.|Interaction with ATP5A1.		B9EK35|D3DNU7	Silent	SNP	ENST00000232003.4	37	c.237G>A	CCDS3280.1																																																																																				0.428	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344655.1	NM_000412		4	70	0	0	0	1	0	4	70				
EVI2A	2123	broad.mit.edu	37	17	29645857	29645857	+	Missense_Mutation	SNP	T	T	G			TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr17:29645857T>G	ENST00000462804.2	-	2	574	c.175A>C	c.(175-177)Att>Ctt	p.I59L	NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|CTD-2370N5.3_ENST00000578584.1_5'Flank|EVI2A_ENST00000461237.1_Missense_Mutation_p.I59L|NF1_ENST00000581113.2_Intron|EVI2A_ENST00000247270.3_Missense_Mutation_p.I82L	NM_014210.3	NP_055025.2	P22794	EVI2A_HUMAN	ecotropic viral integration site 2A	59					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.0?(8)|p.?(3)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)		TTTGTGTTAATGTTTTCATTT	0.368																																						ENST00000247270.3																			11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(244-246)Att>Ctt		ecotropic viral integration site 2A							177.0	168.0	171.0					17																	29645857		2203	4300	6503	SO:0001583	missense	2123					integral to membrane	transmembrane receptor activity	g.chr17:29645857T>G	M55267	CCDS32608.1, CCDS42293.1	17q11.2	2008-07-18			ENSG00000126860	ENSG00000126860			3499	protein-coding gene	gene with protein product		158380		EVI2		2117566	Standard	NM_014210		Approved	EVDA	uc002hgm.3	P22794	OTTHUMG00000159306	ENST00000462804.2:c.175A>C	17.37:g.29645857T>G	ENSP00000420557:p.Ile59Leu					NF1_ENST00000581113.2_Intron|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|EVI2A_ENST00000462804.2_Missense_Mutation_p.I59L|EVI2A_ENST00000461237.1_Missense_Mutation_p.I59L	p.I82L	NM_001003927.2	NP_001003927.1	P22794	EVI2A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)	3	580	-		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)	59					B2R5X2|B4DHX8	Missense_Mutation	SNP	ENST00000462804.2	37	c.244A>C	CCDS42293.1	.	.	.	.	.	.	.	.	.	.	T	2.548	-0.304782	0.05495	.	.	ENSG00000126860	ENST00000394755;ENST00000462804;ENST00000461237;ENST00000247270	.	.	.	4.59	0.777	0.18538	.	1.289180	0.05443	N	0.548058	T	0.27594	0.0678	L	0.36672	1.1	0.29333	N	0.866556	B;B	0.20780	0.033;0.048	B;B	0.17098	0.017;0.015	T	0.23976	-1.0173	9	0.09338	T	0.73	.	2.8895	0.05671	0.1259:0.0844:0.2264:0.5633	.	59;82	P22794;P22794-2	EVI2A_HUMAN;.	L	59;55;59;82	.	ENSP00000247270:I82L	I	-	1	0	EVI2A	26669983	0.000000	0.05858	0.441000	0.26858	0.466000	0.32739	-0.701000	0.05075	0.224000	0.20940	-0.250000	0.11733	ATT		0.368	EVI2A-001	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354491.3	NM_014210		5	108	0	0	0	1	0	5	108				
ASTN1	460	broad.mit.edu	37	1	176852023	176852023	+	Nonsense_Mutation	SNP	G	G	A	rs199961480		TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr1:176852023G>A	ENST00000367654.3	-	20	3569	c.3358C>T	c.(3358-3360)Cga>Tga	p.R1120*	ASTN1_ENST00000361833.2_Nonsense_Mutation_p.R1112*|ASTN1_ENST00000424564.2_Nonsense_Mutation_p.R1112*|ASTN1_ENST00000367657.3_Nonsense_Mutation_p.R1112*	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1120	Fibronectin type-III 1.				locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCCAGGCATCGTATGATCAGA	0.502																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(3358-3360)Cga>Tga		astrotactin 1		G	stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	177.0	148.0	158.0		3334,3334	3.7	0.4	1		158	0,8600		0,0,4300	yes	stop-gained,stop-gained	ASTN1	NM_004319.1,NM_207108.1	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	1112/1295,1112/1217	176852023	1,13005	2203	4300	6503	SO:0001587	stop_gained	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176852023G>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3358C>T	1.37:g.176852023G>A	ENSP00000356626:p.Arg1120*					ASTN1_ENST00000424564.2_Nonsense_Mutation_p.R1112*|ASTN1_ENST00000361833.2_Nonsense_Mutation_p.R1112*|ASTN1_ENST00000367657.3_Nonsense_Mutation_p.R1112*	p.R1120*			O14525	ASTN1_HUMAN			20	3371	-			1120			Fibronectin type-III 1.		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Nonsense_Mutation	SNP	ENST00000367654.3	37	c.3358C>T		.	.	.	.	.	.	.	.	.	.	G	41	8.808908	0.98962	2.27E-4	0.0	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	.	.	.	5.66	3.72	0.42706	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-5.3356	14.3581	0.66752	0.0:0.0:0.7301:0.2699	.	.	.	.	X	1112;1112;1120;1112;1112	.	ENSP00000354536:R1112X	R	-	1	2	ASTN1	175118646	1.000000	0.71417	0.431000	0.26735	0.993000	0.82548	2.999000	0.49473	0.683000	0.31428	0.467000	0.42956	CGA		0.502	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		8	38	0	0	0	1	0	8	38				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		3	33	0	0	0	1	0	3	33				
EMR2	30817	broad.mit.edu	37	19	14883284	14883284	+	Silent	SNP	C	C	T	rs146183015	byFrequency	TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr19:14883284C>T	ENST00000315576.3	-	5	676	c.225G>A	c.(223-225)tcG>tcA	p.S75S	EMR2_ENST00000353876.1_Silent_p.S75S|EMR2_ENST00000594294.1_Silent_p.S75S|EMR2_ENST00000392967.2_Silent_p.S75S|EMR2_ENST00000599423.1_5'UTR|EMR2_ENST00000353005.1_Silent_p.S75S|EMR2_ENST00000392964.3_5'Flank|EMR2_ENST00000392965.3_Silent_p.S75S|EMR2_ENST00000595839.1_Silent_p.S75S|EMR2_ENST00000594076.1_Silent_p.S75S|EMR2_ENST00000596991.2_Silent_p.S75S|EMR2_ENST00000601345.1_Silent_p.S75S|EMR2_ENST00000346057.1_Silent_p.S75S	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	75	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						ATGACACTTTCGACAGTGTTG	0.537																																						ENST00000315576.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						c.(223-225)tcG>tcA		egf-like module containing, mucin-like, hormone receptor-like 2		C	,,,,,,	1,4405	2.1+/-5.4	0,1,2202	151.0	111.0	125.0		225,225,225,225,225,225,225	-2.2	0.0	19	dbSNP_134	125	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	EMR2	NM_013447.2,NM_152916.1,NM_152917.1,NM_152918.1,NM_152919.1,NM_152920.1,NM_152921.1	,,,,,,	0,6,6497	TT,TC,CC		0.0581,0.0227,0.0461	,,,,,,	75/824,75/775,75/731,75/682,75/813,75/764,75/720	14883284	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	30817				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14883284C>T	AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	3337	protein-coding gene	gene with protein product		606100	"""egf-like module containing, mucin-like, hormone receptor-like sequence 2"""				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.225G>A	19.37:g.14883284C>T						EMR2_ENST00000594294.1_Silent_p.S75S|EMR2_ENST00000346057.1_Silent_p.S75S|EMR2_ENST00000595839.1_Silent_p.S75S|EMR2_ENST00000596991.2_Silent_p.S75S|EMR2_ENST00000599423.1_5'UTR|EMR2_ENST00000594076.1_Silent_p.S75S|EMR2_ENST00000353876.1_Silent_p.S75S|EMR2_ENST00000392965.3_Silent_p.S75S|EMR2_ENST00000392967.2_Silent_p.S75S|EMR2_ENST00000353005.1_Silent_p.S75S|EMR2_ENST00000601345.1_Silent_p.S75S	p.S75S	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN			5	676	-			75			EGF-like 2; calcium-binding.		B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Silent	SNP	ENST00000315576.3	37	c.225G>A	CCDS32935.1																																																																																				0.537	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2			8	47	0	0	0	1	0	8	47				
ULBP1	80329	broad.mit.edu	37	6	150289967	150289967	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr6:150289967C>T	ENST00000229708.3	+	2	353	c.310C>T	c.(310-312)Caa>Taa	p.Q104*		NM_025218.2	NP_079494.1	Q9BZM6	N2DL1_HUMAN	UL16 binding protein 1	104	MHC class I alpha-1 like.				antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)			large_intestine(3)|lung(5)|pancreas(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)		CCTTAAAGGGCAACTGCTTGA	0.413																																						ENST00000229708.2																			0				large_intestine(3)|lung(5)|pancreas(1)|skin(1)	10						c.(310-312)Caa>Taa		UL16 binding protein 1							88.0	93.0	92.0					6																	150289967		2203	4300	6503	SO:0001587	stop_gained	80329				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|endoplasmic reticulum|MHC class I protein complex	MHC class I receptor activity	g.chr6:150289967C>T	AF304377	CCDS5223.1	6q25	2003-04-29			ENSG00000111981	ENSG00000111981			14893	protein-coding gene	gene with protein product		605697				11239445, 11827464	Standard	XM_005267151		Approved	RAET1I	uc003qnp.3	Q9BZM6	OTTHUMG00000015810	ENST00000229708.3:c.310C>T	6.37:g.150289967C>T	ENSP00000229708:p.Gln104*					ULBP1_ENST00000367345.1_Nonsense_Mutation_p.Q104*	p.Q104*	NM_025218.2	NP_079494.1	Q9BZM6	N2DL1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)	2	353	+		Ovarian(120;0.0907)	104			MHC class I alpha-1 like.		Q5VY81|Q8IZW3|Q8IZX6	Nonsense_Mutation	SNP	ENST00000229708.3	37	c.310C>T	CCDS5223.1	.	.	.	.	.	.	.	.	.	.	c	10.71	1.426956	0.25726	.	.	ENSG00000111981	ENST00000367345;ENST00000229708	.	.	.	1.89	-1.62	0.08372	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	0.6452	0.00817	0.2437:0.3425:0.2407:0.173	.	.	.	.	X	104	.	ENSP00000229708:Q104X	Q	+	1	0	ULBP1	150331660	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	-4.055000	0.00304	-0.482000	0.06782	0.305000	0.20034	CAA		0.413	ULBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042677.2			16	64	0	0	0	1	0	16	64				
TENM2	57451	broad.mit.edu	37	5	167545362	167545362	+	Missense_Mutation	SNP	G	G	A			TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr5:167545362G>A	ENST00000518659.1	+	10	1918	c.1879G>A	c.(1879-1881)Ggc>Agc	p.G627S	TENM2_ENST00000403607.2_Missense_Mutation_p.G460S|TENM2_ENST00000545108.1_Missense_Mutation_p.G627S|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000519204.1_Missense_Mutation_p.G506S|TENM2_ENST00000520394.1_Missense_Mutation_p.G395S	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	627	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										GTGCTACAGCGGCTGGAAAGG	0.567																																						ENST00000519204.1																			0											c.(1516-1518)Ggc>Agc		teneurin transmembrane protein 2							161.0	164.0	163.0					5																	167545362		2144	4254	6398	SO:0001583	missense	57451							g.chr5:167545362G>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.1879G>A	5.37:g.167545362G>A	ENSP00000429430:p.Gly627Ser					TENM2_ENST00000403607.2_Missense_Mutation_p.G460S|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000518659.1_Missense_Mutation_p.G627S|TENM2_ENST00000520394.1_Missense_Mutation_p.G395S|TENM2_ENST00000545108.1_Missense_Mutation_p.G627S	p.G506S							9	1634	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.1516G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.466967	0.96257	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	T;T;T;T;T	0.14022	2.54;2.54;2.54;2.54;2.54	4.79	4.79	0.61399	EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.45935	0.1367	M	0.89353	3.025	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;1.0	T	0.57946	-0.7723	10	0.87932	D	0	.	17.8545	0.88759	0.0:0.0:1.0:0.0	.	627;395;506	Q9NT68;F8VNQ3;G3V106	TEN2_HUMAN;.;.	S	627;627;506;395;460	ENSP00000429430:G627S;ENSP00000438635:G627S;ENSP00000428964:G506S;ENSP00000427874:G395S;ENSP00000384905:G460S	ENSP00000384905:G460S	G	+	1	0	ODZ2	167477940	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	9.869000	0.99810	2.208000	0.71279	0.563000	0.77884	GGC		0.567	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		33	95	0	0	0	1	0	33	95				
KDM2B	84678	broad.mit.edu	37	12	121880305	121880305	+	Missense_Mutation	SNP	T	T	G			TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr12:121880305T>G	ENST00000377071.4	-	19	3011	c.2939A>C	c.(2938-2940)gAg>gCg	p.E980A	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Missense_Mutation_p.E348A|KDM2B_ENST00000377069.4_Missense_Mutation_p.E911A	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	980					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CTCCTCGCCCTCGCTCTCAGG	0.682																																						ENST00000377069.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(2731-2733)gAg>gCg		lysine (K)-specific demethylase 2B							27.0	32.0	30.0					12																	121880305		2128	4236	6364	SO:0001583	missense	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121880305T>G	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.2939A>C	12.37:g.121880305T>G	ENSP00000366271:p.Glu980Ala					KDM2B_ENST00000542973.1_Missense_Mutation_p.E348A|KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377071.4_Missense_Mutation_p.E980A	p.E911A	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN			18	3138	-			980					A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	c.2732A>C	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	T	12.12	1.843997	0.32606	.	.	ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043;ENST00000261824	T;T;T	0.24908	2.13;2.37;1.83	5.62	5.62	0.85841	.	1.468830	0.04099	N	0.312569	T	0.31327	0.0793	L	0.48642	1.525	0.80722	D	1	B;B;B;B	0.30406	0.131;0.278;0.278;0.131	B;B;B;B	0.24974	0.039;0.057;0.057;0.039	T	0.04915	-1.0918	10	0.49607	T	0.09	-30.8956	15.8157	0.78597	0.0:0.0:0.0:1.0	.	420;980;911;423	B7ZB05;Q8NHM5;A8MRS1;B4DSN4	.;KDM2B_HUMAN;.;.	A	968;348;911;980;423;983	ENSP00000437821:E348A;ENSP00000366269:E911A;ENSP00000366271:E980A	ENSP00000261824:E983A	E	-	2	0	KDM2B	120364688	1.000000	0.71417	0.727000	0.30756	0.004000	0.04260	3.978000	0.56881	2.142000	0.66516	0.533000	0.62120	GAG		0.682	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		12	21	0	0	0	1	0	12	21				
RP11-481J13.1	0	broad.mit.edu	37	2	56216130	56216130	+	lincRNA	SNP	C	C	A			TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr2:56216130C>A	ENST00000606639.1	+	0	82				MIR216A_ENST00000385063.1_RNA|AC011306.2_ENST00000446139.1_lincRNA																							TCCCAGAGACCACTGTGAGGG	0.433																																						ENST00000606639.1																			0																				196.0	175.0	181.0					2																	56216130		1568	3582	5150			0							g.chr2:56216130C>A																													2.37:g.56216130C>A						AC011306.2_ENST00000446139.1_lincRNA|MIR216A_ENST00000385063.1_RNA								0	82	+									RNA	SNP	ENST00000606639.1	37																																																																																						0.433	RP11-481J13.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470754.1			4	140	1	0	0.014758	1	0.015386	4	140				
INSRR	3645	broad.mit.edu	37	1	156821758	156821758	+	Missense_Mutation	SNP	C	C	G			TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr1:156821758C>G	ENST00000368195.3	-	3	1259	c.863G>C	c.(862-864)gGc>gCc	p.G288A	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	288					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGAGGCACGGCCGGGCACAGA	0.662																																						ENST00000368195.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(862-864)gGc>gCc		insulin receptor-related receptor							28.0	26.0	26.0					1																	156821758		2203	4300	6503	SO:0001583	missense	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156821758C>G	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.863G>C	1.37:g.156821758C>G	ENSP00000357178:p.Gly288Ala					NTRK1_ENST00000392302.2_Intron	p.G288A	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN			3	1259	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		288					O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	c.863G>C	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	C	10.89	1.478188	0.26511	.	.	ENSG00000027644	ENST00000368195	D	0.83335	-1.71	4.62	4.62	0.57501	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.138983	0.33161	N	0.005218	T	0.56124	0.1964	.	.	.	0.27619	N	0.948405	B	0.28128	0.201	B	0.35182	0.197	T	0.43147	-0.9409	9	0.12430	T	0.62	.	9.9508	0.41638	0.0:0.9057:0.0:0.0943	.	288	P14616	INSRR_HUMAN	A	288	ENSP00000357178:G288A	ENSP00000357178:G288A	G	-	2	0	INSRR	155088382	0.017000	0.18338	0.655000	0.29622	0.923000	0.55619	1.356000	0.34079	2.419000	0.82065	0.456000	0.33151	GGC		0.662	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		7	23	0	0	0	1	0	7	23				
KRI1	65095	broad.mit.edu	37	19	10668457	10668457	+	Missense_Mutation	SNP	C	C	T	rs202211862		TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr19:10668457C>T	ENST00000312962.6	-	15	1511	c.1492G>A	c.(1492-1494)Gtg>Atg	p.V498M	KRI1_ENST00000361821.5_Missense_Mutation_p.V494M	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	492						nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GGTTCAAACACGGGCTTCTCC	0.701													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15176	0.0		0.0	False		,,,				2504	0.0					ENST00000312962.6																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						c.(1492-1494)Gtg>Atg		KRI1 homolog (S. cerevisiae)							45.0	44.0	44.0					19																	10668457		2202	4298	6500	SO:0001583	missense	65095							g.chr19:10668457C>T		CCDS12242.1	19p13.2	2008-02-05			ENSG00000129347	ENSG00000129347			25769	protein-coding gene	gene with protein product						12878157	Standard	NM_023008		Approved	FLJ12949	uc002moy.1	Q8N9T8	OTTHUMG00000150343	ENST00000312962.6:c.1492G>A	19.37:g.10668457C>T	ENSP00000320917:p.Val498Met					KRI1_ENST00000361821.5_Missense_Mutation_p.V494M	p.V498M	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		15	1511	-			498					Q2M1R5|Q2M1R7|Q7L5J7|Q96G92|Q9BU50|Q9H6I1|Q9H978	Missense_Mutation	SNP	ENST00000312962.6	37	c.1492G>A	CCDS12242.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	9.139	1.013273	0.19277	.	.	ENSG00000129347	ENST00000312962;ENST00000361821;ENST00000541101;ENST00000539027	T;T;T	0.44083	3.16;2.99;0.93	5.36	1.76	0.24704	.	0.267296	0.35525	N	0.003150	T	0.24812	0.0602	L	0.50919	1.6	0.24664	N	0.993458	P;P	0.45283	0.76;0.855	B;B	0.29267	0.07;0.1	T	0.22312	-1.0220	10	0.44086	T	0.13	-31.9798	4.8486	0.13526	0.1393:0.5078:0.272:0.0809	.	498;494	Q8N9T8;D3YTE0	KRI1_HUMAN;.	M	498;494;498;147	ENSP00000320917:V498M;ENSP00000355366:V494M;ENSP00000445789:V147M	ENSP00000320917:V498M	V	-	1	0	KRI1	10529457	0.868000	0.29978	0.434000	0.26772	0.023000	0.10783	1.971000	0.40530	0.592000	0.29728	0.563000	0.77884	GTG		0.701	KRI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317705.1	NM_023008		4	36	0	0	0	1	0	4	36				
DCAF12L1	139170	broad.mit.edu	37	X	125685748	125685748	+	Silent	SNP	A	A	G			TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chrX:125685748A>G	ENST00000371126.1	-	1	1086	c.844T>C	c.(844-846)Ttg>Ctg	p.L282L		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	282										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						TAGCCGTCCAAGGACACCGCT	0.627																																						ENST00000371126.1																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(844-846)Ttg>Ctg		DDB1 and CUL4 associated factor 12-like 1							52.0	50.0	51.0					X																	125685748		2203	4300	6503	SO:0001819	synonymous_variant	139170							g.chrX:125685748A>G	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.844T>C	X.37:g.125685748A>G							p.L282L	NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN			1	1086	-			282					Q8IYK3	Silent	SNP	ENST00000371126.1	37	c.844T>C	CCDS14610.1																																																																																				0.627	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		14	17	0	0	0	1	0	14	17				
BCLAF1	9774	broad.mit.edu	37	6	136599145	136599145	+	Missense_Mutation	SNP	T	T	C			TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr6:136599145T>C	ENST00000531224.1	-	4	1126	c.874A>G	c.(874-876)Att>Gtt	p.I292V	BCLAF1_ENST00000530767.1_Missense_Mutation_p.I292V|BCLAF1_ENST00000392348.2_Missense_Mutation_p.I290V|BCLAF1_ENST00000353331.4_Missense_Mutation_p.I290V|BCLAF1_ENST00000527536.1_Missense_Mutation_p.I292V|BCLAF1_ENST00000527759.1_Missense_Mutation_p.I290V	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	292					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ATGTGATGAATTGGACTATTC	0.463																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(874-876)Att>Gtt		BCL2-associated transcription factor 1							99.0	86.0	91.0					6																	136599145		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136599145T>C	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.874A>G	6.37:g.136599145T>C	ENSP00000435210:p.Ile292Val					BCLAF1_ENST00000527759.1_Missense_Mutation_p.I290V|BCLAF1_ENST00000527536.1_Missense_Mutation_p.I292V|BCLAF1_ENST00000392348.2_Missense_Mutation_p.I290V|BCLAF1_ENST00000530767.1_Missense_Mutation_p.I292V|BCLAF1_ENST00000353331.4_Missense_Mutation_p.I290V	p.I292V	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	4	1126	-	Colorectal(23;0.24)		292					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.874A>G	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	T	6.860	0.528080	0.13127	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.13420	2.59;2.59;2.59;2.59;2.59;2.59;2.59	5.82	4.66	0.58398	.	0.135266	0.42682	D	0.000680	T	0.01558	0.0050	N	0.08118	0	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.41124	-0.9526	10	0.10636	T	0.68	-6.1196	3.5592	0.07875	0.1132:0.0731:0.2771:0.5366	.	290;290;292;292	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	V	292;290;292;292;290;290;292	ENSP00000435210:I292V;ENSP00000229446:I290V;ENSP00000435441:I292V;ENSP00000436501:I292V;ENSP00000434826:I290V;ENSP00000376159:I290V;ENSP00000431734:I292V	ENSP00000229446:I290V	I	-	1	0	BCLAF1	136640838	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.166000	0.31834	1.025000	0.39708	0.528000	0.53228	ATT		0.463	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		5	73	0	0	0	1	0	5	73				
ZBTB49	166793	broad.mit.edu	37	4	4317416	4317416	+	Missense_Mutation	SNP	A	A	G			TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr4:4317416A>G	ENST00000337872.4	+	6	1551	c.1430A>G	c.(1429-1431)aAa>aGa	p.K477R	ZBTB49_ENST00000538529.1_5'UTR|ZBTB49_ENST00000355834.3_Intron	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	477					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						TCAGGAGAAAAACCACACTTG	0.398																																						ENST00000337872.4																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						c.(1429-1431)aAa>aGa		zinc finger and BTB domain containing 49							102.0	103.0	103.0					4																	4317416		2203	4300	6503	SO:0001583	missense	166793				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:4317416A>G	AK095878	CCDS3375.1	4p16.2	2013-01-08	2010-01-26	2010-01-26	ENSG00000168826	ENSG00000168826		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19883	protein-coding gene	gene with protein product			"""zinc finger protein 509"""	ZNF509		12477932	Standard	NM_145291		Approved	FLJ38559	uc003ghu.3	Q6ZSB9	OTTHUMG00000090325	ENST00000337872.4:c.1430A>G	4.37:g.4317416A>G	ENSP00000338807:p.Lys477Arg					ZBTB49_ENST00000355834.3_Intron|ZBTB49_ENST00000538529.1_5'UTR	p.K477R	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN			6	1551	+			477					Q59FJ4|Q5EBN0|Q8TB80	Missense_Mutation	SNP	ENST00000337872.4	37	c.1430A>G	CCDS3375.1	.	.	.	.	.	.	.	.	.	.	A	29.5	5.007280	0.93287	.	.	ENSG00000168826	ENST00000337872	T	0.24908	1.83	5.45	5.45	0.79879	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000012	T	0.37156	0.0993	N	0.21282	0.65	0.80722	D	1	D	0.56746	0.977	D	0.68621	0.959	T	0.26155	-1.0111	10	0.66056	D	0.02	.	15.5161	0.75826	1.0:0.0:0.0:0.0	.	477	Q6ZSB9	ZBT49_HUMAN	R	477	ENSP00000338807:K477R	ENSP00000338807:K477R	K	+	2	0	ZBTB49	4368317	1.000000	0.71417	0.990000	0.47175	0.996000	0.88848	6.706000	0.74649	2.079000	0.62486	0.379000	0.24179	AAA		0.398	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206688.3	NM_145291		7	37	0	0	0	1	0	7	37				
DMRT1	1761	broad.mit.edu	37	9	916850	916850	+	Missense_Mutation	SNP	G	G	A	rs141672484		TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr9:916850G>A	ENST00000382276.3	+	4	1059	c.910G>A	c.(910-912)Gtg>Atg	p.V304M	DMRT1_ENST00000569227.1_Missense_Mutation_p.V146M	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	304					cell morphogenesis (GO:0000902)|germ cell migration (GO:0008354)|intracellular signal transduction (GO:0035556)|male germ cell proliferation (GO:0002176)|male sex determination (GO:0030238)|male sex differentiation (GO:0046661)|negative regulation of meiosis (GO:0045835)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oocyte development (GO:0048599)|positive regulation of male gonad development (GO:2000020)|positive regulation of meiosis I (GO:0060903)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of nodal signaling pathway (GO:1900107)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		GGGCCAGAGCGTGCCCCAGTT	0.542													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17880	0.0		0.0	False		,,,				2504	0.0					ENST00000382276.3																			0				large_intestine(2)|lung(10)|ovary(1)	13						c.(910-912)Gtg>Atg		doublesex and mab-3 related transcription factor 1		G	MET/VAL	4,4402	8.1+/-20.4	0,4,2199	128.0	107.0	114.0		910	-2.0	0.2	9	dbSNP_134	114	0,8600		0,0,4300	no	missense	DMRT1	NM_021951.2	21	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	benign	304/374	916850	4,13002	2203	4300	6503	SO:0001583	missense	1761				cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:916850G>A	AF130728	CCDS6442.1	9p24.3	2014-01-21			ENSG00000137090	ENSG00000137090			2934	protein-coding gene	gene with protein product	"""DM domain expressed in testis 1"""	602424				9490411, 10332030	Standard	XM_006716732		Approved	DMT1, CT154	uc003zgv.3	Q9Y5R6	OTTHUMG00000019435	ENST00000382276.3:c.910G>A	9.37:g.916850G>A	ENSP00000371711:p.Val304Met					DMRT1_ENST00000569227.1_Missense_Mutation_p.V146M	p.V304M	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN		Lung(218;0.037)	4	1059	+		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)	304					B2R913|Q6T1H8|Q6T1H9|Q8IW77	Missense_Mutation	SNP	ENST00000382276.3	37	c.910G>A	CCDS6442.1	.	.	.	.	.	.	.	.	.	.	G	9.140	1.013705	0.19277	9.08E-4	0.0	ENSG00000137090	ENST00000382276	T	0.28454	1.61	5.44	-1.98	0.07480	.	0.867320	0.10094	N	0.716827	T	0.25306	0.0615	L	0.52266	1.64	0.09310	N	1	B	0.22480	0.07	B	0.13407	0.009	T	0.21008	-1.0258	10	0.40728	T	0.16	.	9.7344	0.40379	0.5402:0.0:0.4598:0.0	.	304	Q9Y5R6	DMRT1_HUMAN	M	304	ENSP00000371711:V304M	ENSP00000371711:V304M	V	+	1	0	DMRT1	906850	0.002000	0.14202	0.246000	0.24233	0.587000	0.36485	-0.583000	0.05807	-0.632000	0.05553	-0.812000	0.03155	GTG		0.542	DMRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051489.2	NM_021951		9	30	0	0	0	1	0	9	30				
G2E3	55632	broad.mit.edu	37	14	31066655	31066655	+	Silent	SNP	C	C	T			TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr14:31066655C>T	ENST00000206595.6	+	7	712	c.558C>T	c.(556-558)ttC>ttT	p.F186F	G2E3_ENST00000438909.2_Silent_p.F140F|G2E3_ENST00000553504.1_Silent_p.F216F|G2E3_ENST00000544007.1_3'UTR	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	186					apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						GAGTGTTTTTCTTTAGGTGTA	0.313																																						ENST00000206595.6																			0				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(556-558)ttC>ttT		G2/M-phase specific E3 ubiquitin protein ligase							148.0	166.0	160.0					14																	31066655		2203	4299	6502	SO:0001819	synonymous_variant	55632				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding	g.chr14:31066655C>T	AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"""Zinc fingers, PHD-type"""	20338	protein-coding gene	gene with protein product	"""PHD finger protein 7B"""	611299	"""KIAA1333"""	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.558C>T	14.37:g.31066655C>T						G2E3_ENST00000553504.1_Silent_p.F216F|G2E3_ENST00000438909.2_Silent_p.F140F|G2E3_ENST00000544007.1_3'UTR	p.F186F	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN			7	712	+			186					Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Silent	SNP	ENST00000206595.6	37	c.558C>T	CCDS9638.1																																																																																				0.313	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276613.2	NM_017769		17	112	0	0	0	1	0	17	112				
COBLL1	22837	broad.mit.edu	37	2	165551251	165551251	+	Missense_Mutation	SNP	G	G	A			TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr2:165551251G>A	ENST00000392717.2	-	13	2883	c.2879C>T	c.(2878-2880)gCt>gTt	p.A960V	COBLL1_ENST00000409184.3_Missense_Mutation_p.A922V|COBLL1_ENST00000342193.4_Missense_Mutation_p.A922V|COBLL1_ENST00000375458.2_Missense_Mutation_p.A884V|COBLL1_ENST00000194871.6_Missense_Mutation_p.A989V			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	960						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						ACTCTTGGCAGCTGCAGATGT	0.468																																						ENST00000375458.2																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						c.(2650-2652)gCt>gTt		cordon-bleu WH2 repeat protein-like 1							45.0	47.0	46.0					2																	165551251		2203	4300	6503	SO:0001583	missense	22837							g.chr2:165551251G>A	AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.2879C>T	2.37:g.165551251G>A	ENSP00000376478:p.Ala960Val					COBLL1_ENST00000342193.4_Missense_Mutation_p.A922V|COBLL1_ENST00000392717.2_Missense_Mutation_p.A960V|COBLL1_ENST00000194871.6_Missense_Mutation_p.A989V|COBLL1_ENST00000409184.3_Missense_Mutation_p.A922V	p.A884V	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN			11	2872	-			960					A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	ENST00000392717.2	37	c.2651C>T		.	.	.	.	.	.	.	.	.	.	G	12.51	1.959312	0.34565	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	6.03	5.15	0.70609	.	0.195954	0.38837	N	0.001542	T	0.34164	0.0888	L	0.50333	1.59	0.34903	D	0.746657	P;P;P	0.49559	0.809;0.925;0.547	B;B;B	0.38712	0.194;0.194;0.28	T	0.36065	-0.9763	9	0.09338	T	0.73	-20.5907	9.2406	0.37493	0.1561:0.0:0.8439:0.0	.	960;989;922	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	V	884;922;922;960;989	.	ENSP00000194871:A989V	A	-	2	0	COBLL1	165259497	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	3.345000	0.52182	2.854000	0.98071	0.655000	0.94253	GCT		0.468	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900		3	40	0	0	0	1	0	3	40				
GAREM	64762	broad.mit.edu	37	18	29867774	29867774	+	Silent	SNP	G	G	A			TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr18:29867774G>A	ENST00000269209.6	-	4	789	c.786C>T	c.(784-786)ctC>ctT	p.L262L	RP11-344B2.2_ENST00000579580.1_RNA|GAREM_ENST00000578619.1_5'Flank|GAREM_ENST00000399218.4_Silent_p.L262L			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	262	CABIT.				cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)										GGATGAAGTGGAGGTCGTATG	0.542																																						ENST00000399218.4																			0											c.(784-786)ctC>ctT		GRB2 associated, regulator of MAPK1							195.0	167.0	177.0					18																	29867774		2203	4300	6503	SO:0001819	synonymous_variant	64762							g.chr18:29867774G>A	AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"""Grb2-associated and regulator of Erk/MAPK"""		"""chromosome 18 open reading frame 11"", ""family with sequence similarity 59, member A"""	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.786C>T	18.37:g.29867774G>A						RP11-344B2.2_ENST00000579580.1_RNA|GAREM_ENST00000269209.6_Silent_p.L262L	p.L262L	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1					4	841	-								Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Silent	SNP	ENST00000269209.6	37	c.786C>T	CCDS56057.1																																																																																				0.542	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751		5	52	0	0	0	1	0	5	52				
RFPL4B	442247	broad.mit.edu	37	6	112671564	112671564	+	Silent	SNP	C	C	A	rs577059806		TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr6:112671564C>A	ENST00000441065.2	+	3	966	c.654C>A	c.(652-654)atC>atA	p.I218I	RP11-506B6.6_ENST00000590673.1_RNA|RP11-506B6.6_ENST00000587816.1_RNA|RP11-506B6.6_ENST00000585611.1_RNA	NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	218	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		TAGAAGAAATCCAGTTTTTTG	0.458																																						ENST00000441065.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14						c.(652-654)atC>atA		ret finger protein-like 4B							67.0	63.0	64.0					6																	112671564		2203	4300	6503	SO:0001819	synonymous_variant	442247						zinc ion binding	g.chr6:112671564C>A	AK122906	CCDS34515.1	6q21	2007-04-24			ENSG00000251258	ENSG00000251258		"""RING-type (C3HC4) zinc fingers"""	33264	protein-coding gene	gene with protein product							Standard	NM_001013734		Approved	RNF211	uc003pvx.1	Q6ZWI9	OTTHUMG00000015390	ENST00000441065.2:c.654C>A	6.37:g.112671564C>A							p.I218I	NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)	3	966	+		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)	218			B30.2/SPRY.		A2RU91	Silent	SNP	ENST00000441065.2	37	c.654C>A	CCDS34515.1																																																																																				0.458	RFPL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041885.2	NM_001013734		7	46	1	0	3.09899e-07	1	3.61548e-07	7	46				
SPAG17	200162	broad.mit.edu	37	1	118526457	118526457	+	Missense_Mutation	SNP	T	T	C	rs548988281		TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr1:118526457T>C	ENST00000336338.5	-	42	5914	c.5849A>G	c.(5848-5850)cAa>cGa	p.Q1950R	SPAG17_ENST00000492438.1_5'UTR	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1950						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AGATGTATCTTGAACAGCTGT	0.333																																						ENST00000336338.5																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(5848-5850)cAa>cGa		sperm associated antigen 17							155.0	146.0	149.0					1																	118526457		2202	4300	6502	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118526457T>C		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.5849A>G	1.37:g.118526457T>C	ENSP00000337804:p.Gln1950Arg					SPAG17_ENST00000492438.1_5'UTR	p.Q1950R	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	42	5914	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1950					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.5849A>G	CCDS899.1	.	.	.	.	.	.	.	.	.	.	T	5.648	0.304150	0.10678	.	.	ENSG00000155761	ENST00000336338;ENST00000437255	T	0.18960	2.18	4.5	-2.5	0.06384	.	1.486420	0.03872	N	0.275849	T	0.06508	0.0167	L	0.51422	1.61	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.37820	-0.9689	10	0.35671	T	0.21	.	5.5924	0.17309	0.0:0.1772:0.4607:0.3621	.	1950	Q6Q759	SPG17_HUMAN	R	1950;430	ENSP00000337804:Q1950R	ENSP00000337804:Q1950R	Q	-	2	0	SPAG17	118327980	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.512000	0.06313	-0.566000	0.06054	-1.006000	0.02489	CAA		0.333	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		3	30	0	0	0	1	0	3	30				
LRRK2	120892	broad.mit.edu	37	12	40761496	40761496	+	Missense_Mutation	SNP	C	C	A	rs201147695		TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr12:40761496C>A	ENST00000298910.7	+	51	7571	c.7513C>A	c.(7513-7515)Caa>Aaa	p.Q2505K		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2505					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ACATGAAGTGCAAAATTTAGA	0.323																																						ENST00000298910.7																			0				NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.(7513-7515)Caa>Aaa		leucine-rich repeat kinase 2							56.0	59.0	58.0					12																	40761496		2203	4297	6500	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40761496C>A	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.7513C>A	12.37:g.40761496C>A	ENSP00000298910:p.Gln2505Lys						p.Q2505K	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			51	7571	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	2505					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.7513C>A	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	C	7.618	0.676249	0.14841	.	.	ENSG00000188906	ENST00000298910	T	0.69040	-0.37	5.3	3.34	0.38264	WD40 repeat-like-containing domain (1);	0.234251	0.44688	D	0.000422	T	0.52613	0.1745	L	0.38175	1.15	0.34851	D	0.741618	B;B	0.15473	0.013;0.013	B;B	0.17433	0.018;0.018	T	0.54125	-0.8340	10	0.08599	T	0.76	.	13.6586	0.62352	0.1164:0.7564:0.1272:0.0	.	2505;2505	Q17RV3;Q5S007	.;LRRK2_HUMAN	K	2505	ENSP00000298910:Q2505K	ENSP00000298910:Q2505K	Q	+	1	0	LRRK2	39047763	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	3.035000	0.49759	1.231000	0.43661	0.561000	0.74099	CAA		0.323	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		7	66	1	0	0.00448238	1	0.00477471	7	66				
LIPC	3990	broad.mit.edu	37	15	58830668	58830668	+	Silent	SNP	C	C	T	rs146362585		TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr15:58830668C>T	ENST00000356113.6	+	4	840	c.225C>T	c.(223-225)tgC>tgT	p.C75C	LIPC_ENST00000299022.5_Silent_p.C75C|LIPC_ENST00000414170.3_Silent_p.C75C|LIPC_ENST00000433326.2_Silent_p.C75C			P11150	LIPC_HUMAN	lipase, hepatic	75					cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|fatty acid biosynthetic process (GO:0006633)|high-density lipoprotein particle remodeling (GO:0034375)|intermediate-density lipoprotein particle remodeling (GO:0034373)|low-density lipoprotein particle remodeling (GO:0034374)|phosphatidylcholine catabolic process (GO:0034638)|reverse cholesterol transport (GO:0043691)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|low-density lipoprotein particle binding (GO:0030169)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)	p.C75C(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		TACAGGAGTGCGGCTTCAACT	0.473													C|||	1	0.000199681	0.0	0.0	5008	,	,		18726	0.0		0.001	False		,,,				2504	0.0					ENST00000414170.3																			1	Substitution - coding silent(1)	p.C75C(1)	lung(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(223-225)tgC>tgT		lipase, hepatic							160.0	148.0	152.0					15																	58830668		2192	4292	6484	SO:0001819	synonymous_variant	3990				cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity	g.chr15:58830668C>T		CCDS10166.1	15q21-q23	2012-10-02			ENSG00000166035	ENSG00000166035	3.1.1.3		6619	protein-coding gene	gene with protein product		151670					Standard	NM_000236		Approved	HL, HTGL	uc002afa.2	P11150	OTTHUMG00000132632	ENST00000356113.6:c.225C>T	15.37:g.58830668C>T						LIPC_ENST00000433326.2_Silent_p.C75C|LIPC_ENST00000356113.6_Silent_p.C75C|LIPC_ENST00000299022.5_Silent_p.C75C	p.C75C			P11150	LIPC_HUMAN		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)	3	512	+		Colorectal(260;0.215)	75					A2RUB4|A8K9B6|O43571|P78529|Q99465	Silent	SNP	ENST00000356113.6	37	c.225C>T	CCDS10166.1																																																																																				0.473	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416209.1			4	139	0	0	0	1	0	4	139				
LOC101927924	101927924	broad.mit.edu	37	2	130697404	130697404	+	lincRNA	DEL	T	T	-			TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr2:130697404delT	ENST00000450840.1	+	0	346																											ATACAAAATATTCCAGATAAA	0.358																																						ENST00000450840.1																			0																																																			0							g.chr2:130697404delT																													2.37:g.130697404delT														0	346	+									RNA	DEL	ENST00000450840.1	37																																																																																						0.358	AC079776.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000331345.1			2	4						2	4	---	---	---	---
LRIG1	26018	broad.mit.edu	37	3	66433531	66433531	+	Frame_Shift_Del	DEL	T	T	-			TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr3:66433531delT	ENST00000273261.3	-	15	2890	c.2366delA	c.(2365-2367)gatfs	p.D789fs	LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000383703.3_Frame_Shift_Del_p.D766fs|SLC25A26_ENST00000536651.1_Intron	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	789					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CGTGGTCCCATCCTTCCTGCA	0.597																																						ENST00000383703.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42						c.(2296-2298)gtfs		leucine-rich repeats and immunoglobulin-like domains 1							137.0	128.0	131.0					3																	66433531		2203	4300	6503	SO:0001589	frameshift_variant	26018					integral to membrane		g.chr3:66433531delT	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.2366delA	3.37:g.66433531delT	ENSP00000273261:p.Asp789fs					LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000273261.3_Frame_Shift_Del_p.D789fs|SLC25A26_ENST00000536651.1_Intron	p.D766fs			Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	16	2900	-		Lung NSC(201;0.0101)	789			Ig-like C2-type 3.		Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Frame_Shift_Del	DEL	ENST00000273261.3	37	c.2297delA	CCDS33783.1																																																																																				0.597	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		36	99						36	99	---	---	---	---
OTOP1	133060	broad.mit.edu	37	4	4228274	4228282	+	In_Frame_Del	DEL	CCACAGCAG	CCACAGCAG	-	rs75328065|rs199840382|rs111245977|rs377667898|rs200554408|rs201436152	byFrequency	TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr4:4228274_4228282delCCACAGCAG	ENST00000296358.4	-	1	334_342	c.310_318delCTGCTGTGG	c.(310-318)ctgctgtggdel	p.LLW104del		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	104					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.L104_W106delLLW(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACCACAGCATCCACAGCAGCTGCAGCAGC	0.727																																						ENST00000296358.4																			1	Deletion - In frame(1)	p.L104_W106delLLW(1)	upper_aerodigestive_tract(1)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(310-318)del		otopetrin 1																																				SO:0001651	inframe_deletion	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4228274_4228282delCCACAGCAG	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.310_318delCTGCTGTGG	4.37:g.4228274_4228282delCCACAGCAG	ENSP00000296358:p.Leu104_Trp106del						p.LLW104del	NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	1	334_342	-			104					A1L476	In_Frame_Del	DEL	ENST00000296358.4	37	c.310_318delCTGCTGTGG	CCDS3372.1																																																																																				0.727	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		6	7						6	7	---	---	---	---
TREML2	79865	broad.mit.edu	37	6	41166145	41166163	+	Frame_Shift_Del	DEL	GTATACACTGTCAGCAGAG	GTATACACTGTCAGCAGAG	-	rs77704965|rs35260020|rs144159694|rs71544266|rs61998254|rs62396355|rs564406669|rs41273772	byFrequency	TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr6:41166145_41166163delGTATACACTGTCAGCAGAG	ENST00000483722.1	-	2	245_263	c.60_78delCTCTGCTGACAGTGTATAC	c.(58-78)ccctctgctgacagtgtatacfs	p.PSADSVY20fs		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	20	Ig-like V-type.				T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					TCACTTTTGTGTATACACTGTCAGCAGAGGGGCCTGTGG	0.47																																						ENST00000483722.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18						c.(58-78)ccfs		triggering receptor expressed on myeloid cells-like 2																																				SO:0001589	frameshift_variant	79865				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr6:41166145_41166163delGTATACACTGTCAGCAGAG	AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"""Immunoglobulin superfamily / V-set domain containing"""	21092	protein-coding gene	gene with protein product	"""TREM-like transcript 2"""	609715	"""chromosome 6 open reading frame 76"""	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.60_78delCTCTGCTGACAGTGTATAC	6.37:g.41166145_41166163delGTATACACTGTCAGCAGAG	ENSP00000418767:p.Pro20fs						p.PSADSVY20fs	NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN			2	245_263	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		20			Ig-like V-type.		Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Frame_Shift_Del	DEL	ENST00000483722.1	37	c.60_78delCTCTGCTGACAGTGTATAC	CCDS4853.2																																																																																				0.470	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807		9	117						9	117	---	---	---	---
USP17L2	377630	broad.mit.edu	37	8	11994579	11994580	+	IGR	DEL	TG	TG	-			TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr8:11994579_11994580delTG	ENST00000333796.3	-	0	1910				FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2						apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						TGTTCgtgtttgtgtgtgtgtg	0.505																																						ENST00000434078.2																			0																																																	SO:0001628	intergenic_variant	0							g.chr8:11994579_11994580delTG	BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"""deubiquitinating enzyme 3"""	610186	"""ubiquitin specific peptidase 17-like 2"""				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295		8.37:g.11994589_11994590delTG								NR_027425.1						0	608	+									RNA	DEL	ENST00000333796.3	37		CCDS43713.1																																																																																				0.505	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	NM_201402		2	4						2	4	---	---	---	---
PTEN	5728	broad.mit.edu	37	10	89720803	89720804	+	Frame_Shift_Del	DEL	TA	TA	-	rs398123330		TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr10:89720803_89720804delTA	ENST00000371953.3	+	8	2311_2312	c.954_955delTA	c.(952-957)cttactfs	p.T319fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	319	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.		Missing (in glioma; reduced tumor suppressor activity; fails to inactivate AKT/PKB). {ECO:0000269|PubMed:9090379}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.L318fs*2(27)|p.T319fs*1(24)|p.T319fs*6(6)|p.R55fs*1(5)|p.V317fs*3(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319del(2)|p.V317fs*6(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.L318fs*3(1)|p.L316fs*1(1)|p.T319fs*4(1)|p.W274_F341del(1)|p.V317_K322del(1)|p.T318fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ATCTAGTACTTACTTTAACAAA	0.327		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		121	Deletion - Frameshift(70)|Whole gene deletion(37)|Deletion - In frame(6)|Insertion - Frameshift(6)|Unknown(2)	p.0?(37)|p.L318fs*2(27)|p.T319fs*1(24)|p.T319fs*6(6)|p.R55fs*1(5)|p.V317fs*3(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319del(2)|p.V317fs*6(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.L318fs*3(1)|p.L316fs*1(1)|p.T319fs*4(1)|p.W274_F341del(1)|p.V317_K322del(1)|p.T318fs*2(1)	endometrium(38)|central_nervous_system(29)|prostate(17)|skin(8)|breast(7)|ovary(6)|lung(4)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|soft_tissue(2)|urinary_tract(2)|liver(2)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CD972424|CI075686	PTEN	D|I	rs146650273	c.(952-957)ctctfs		phosphatase and tensin homolog																																				SO:0001589	frameshift_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720803_89720804delTA	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.954_955delTA	10.37:g.89720803_89720804delTA	ENSP00000361021:p.Thr319fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_ENST00000472832.1_3'UTR	p.LT320fs	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	8	2311_2312	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	320			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	c.954_955delTA	CCDS31238.1																																																																																				0.327	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		14	91						14	91	---	---	---	---
CTCFL	140690	broad.mit.edu	37	20	56099187	56099187	+	Frame_Shift_Del	DEL	T	T	-			TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr20:56099187delT	ENST00000608263.1	-	1	736	c.75delA	c.(73-75)aaafs	p.K25fs	CTCFL_ENST00000422869.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000423479.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000432255.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000481655.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000429804.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000371196.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000433949.3_Intron|CTCFL_ENST00000608425.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000609232.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000608903.1_Intron|CTCFL_ENST00000608440.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000608158.1_Frame_Shift_Del_p.K25fs	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	25					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CCTTCAGGCCTTTTTCCGGCA	0.502																																						ENST00000426658.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(73-75)aafs		CCCTC-binding factor (zinc finger protein)-like							231.0	258.0	249.0					20																	56099187		2203	4300	6503	SO:0001589	frameshift_variant	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56099187delT		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.75delA	20.37:g.56099187delT	ENSP00000476783:p.Lys25fs					CTCFL_ENST00000432255.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000423479.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422109.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000429804.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000433949.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000371196.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000502686.2_Intron	p.K25fs			Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		1	736	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		25					A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Frame_Shift_Del	DEL	ENST00000608263.1	37	c.75delA	CCDS13459.1																																																																																				0.502	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		10	321						10	321	---	---	---	---
MN1	4330	broad.mit.edu	37	22	28194933	28194934	+	In_Frame_Ins	INS	-	-	TGC	rs572936881|rs34890218|rs373314940|rs71194738	byFrequency	TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chr22:28194933_28194934insTGC	ENST00000302326.4	-	1	2552_2553	c.1598_1599insGCA	c.(1597-1599)caa>caGCAa	p.533_533Q>QQ		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	533	Poly-Gln.				intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						gctgctgctgttgctgctgctg	0.653			T	ETV6	"""AML, meningioma"""									447	0.0892572	0.0393	0.1196	5008	,	,		12327	0.0774		0.1789	False		,,,				2504	0.0552					ENST00000302326.4				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"""L, O"""	ETV6		"""AML, meningioma"""		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						c.(1597-1599)cca>cGCAca		meningioma (disrupted in balanced translocation) 1																																				SO:0001652	inframe_insertion	4330						binding	g.chr22:28194933_28194934insTGC	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.1596_1598dupGCA	22.37:g.28194940_28194942dupTGC	ENSP00000304956:p.Gln550dup						p.533_533P>RT	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN			1	2552_2553	-			533			Poly-Gln.		A9Z1V9	In_Frame_Ins	INS	ENST00000302326.4	37	c.1598_1599insGCA	CCDS42998.1																																																																																				0.653	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		5	5						5	5	---	---	---	---
DGKK	139189	broad.mit.edu	37	X	50165595	50165596	+	RNA	INS	-	-	AC	rs59226442|rs72026364		TCGA-4L-AA1F-01A-11D-A41K-08	TCGA-4L-AA1F-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0222802-6dcc-4ec8-a7de-cb26d52f09ee	e3a32f56-a8b5-40ca-a15b-7714da6f0ac7	g.chrX:50165595_50165596insAC	ENST00000376025.2	-	0	816							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TTAAAAGGTAAacacacacaca	0.411														797	0.211126	0.1422	0.1383	3775	,	,		11957	0.2083		0.161	False		,,,				2504	0.1442					ENST00000376025.2																			0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45								diacylglycerol kinase, kappa																																						139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50165595_50165596insAC	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50165604_50165605dupAC										Q5KSL6	DGKK_HUMAN			0	816	-	Ovarian(276;0.236)							B2RP91	RNA	INS	ENST00000376025.2	37																																																																																						0.411	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		3	5						3	5	---	---	---	---
