#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ERC2	26059	broad.mit.edu	37	3	56468821	56468821	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr3:56468821G>A	ENST00000288221.6	-	2	470	c.215C>T	c.(214-216)tCa>tTa	p.S72L		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	72						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GTAGGTTGTTGAAGCCACCCC	0.507																																						uc021wzo.1																			0				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31						c.(214-216)tCa>tTa		Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.							176.0	170.0	172.0					3																	56468821		2023	4180	6203	SO:0001583	missense	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:56468821G>A	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.215C>T	3.37:g.56468821G>A	ENSP00000288221:p.Ser72Leu		Somatic				ERC2_uc003dhr.1_Missense_Mutation_p.S72L	p.S72L	NM_015576	NP_056391	WXS	Illumina GAIIx	Phase_I	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	0	355	-			72					Q2T9F6|Q86TK4	Missense_Mutation	SNP	ENST00000288221.6	37	c.215C>T	CCDS46851.1	.	.	.	.	.	.	.	.	.	.	G	33	5.211190	0.95069	.	.	ENSG00000187672	ENST00000288221	T	0.42513	0.97	5.76	5.76	0.90799	.	0.058312	0.64402	D	0.000001	T	0.54078	0.1836	L	0.34521	1.04	0.58432	D	0.999996	D	0.54601	0.967	P	0.60789	0.879	T	0.54470	-0.8289	10	0.72032	D	0.01	-13.3325	19.9759	0.97304	0.0:0.0:1.0:0.0	.	72	O15083	ERC2_HUMAN	L	72	ENSP00000288221:S72L	ENSP00000288221:S72L	S	-	2	0	ERC2	56443861	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	9.476000	0.97823	2.713000	0.92767	0.655000	0.94253	TCA		0.507	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		4	215	0	0	0	1	0	4	215				
EDA	1896	broad.mit.edu	37	X	69253267	69253267	+	Silent	SNP	C	C	T			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chrX:69253267C>T	ENST00000374552.4	+	7	1055	c.813C>T	c.(811-813)ctC>ctT	p.L271L	EDA_ENST00000374553.2_Silent_p.L271L|EDA_ENST00000524573.1_Silent_p.L268L	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	271					cell differentiation (GO:0030154)|cell-matrix adhesion (GO:0007160)|ectoderm development (GO:0007398)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|immune response (GO:0006955)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|salivary gland cavitation (GO:0060662)|signal transduction (GO:0007165)|trachea gland development (GO:0061153)	apical part of cell (GO:0045177)|collagen trimer (GO:0005581)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						GTGGAGTGCTCAATGACTGGT	0.478											OREG0019847	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004dxs.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						c.(811-813)ctC>ctT		Homo sapiens ectodysplasin A (EDA), transcript variant 1, mRNA.							170.0	152.0	158.0					X																	69253267		2203	4300	6503	SO:0001819	synonymous_variant	1896				cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding	g.chrX:69253267C>T	U59227	CCDS14394.1, CCDS35318.1, CCDS35319.1, CCDS43966.1, CCDS35318.2, CCDS35319.2, CCDS55436.1	Xq12-q13.1	2013-05-22	2004-08-09	2004-08-12	ENSG00000158813	ENSG00000158813		"""Tumor necrosis factor (ligand) superfamily"""	3157	protein-coding gene	gene with protein product		300451	"""ectodermal dysplasia 1, anhidrotic"", ""oligodontia 1"""	ED1, EDA2, ODT1		8696334, 18657636, 16583127	Standard	NM_001005612		Approved	EDA1, XLHED, HED, XHED, ED1-A1, ED1-A2, EDA-A1, EDA-A2	uc004dxs.3	Q92838	OTTHUMG00000021764	ENST00000374552.4:c.813C>T	X.37:g.69253267C>T			Somatic	OREG0019847	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1113	EDA_uc011mpj.2_Silent_p.L268L|EDA_uc004dxr.3_Silent_p.L271L	p.L271L	NM_001399	NP_001390	WXS	Illumina GAIIx	Phase_I	Q92838	EDA_HUMAN			6	1055	+			271					A0AUZ2|A2A337|B7ZLU2|B7ZLU4|O75910|Q5JS00|Q5JUM7|Q9UP77|Q9Y6L0|Q9Y6L1|Q9Y6L2|Q9Y6L3|Q9Y6L4	Silent	SNP	ENST00000374552.4	37	c.813C>T	CCDS14394.1																																																																																				0.478	EDA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057048.2	NM_001399		6	273	0	0	0	1	0	6	273				
EGFLAM	133584	broad.mit.edu	37	5	38352357	38352357	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr5:38352357G>A	ENST00000354891.3	+	5	815	c.469G>A	c.(469-471)Gag>Aag	p.E157K	EGFLAM_ENST00000322350.5_Missense_Mutation_p.E157K	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	157	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TTCGGATTCTGAGGTGGCCCT	0.507																																					Colon(62;485 1295 3347 17454)	uc003jlc.2																			0		p.E157D(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85						c.(469-471)Gag>Aag		Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.							135.0	131.0	132.0					5																	38352357		2203	4300	6503	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38352357G>A	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.469G>A	5.37:g.38352357G>A	ENSP00000346964:p.Glu157Lys		Somatic				EGFLAM_uc003jlb.2_Missense_Mutation_p.E157K	p.E157K	NM_001205301	NP_001192230	WXS	Illumina GAIIx	Phase_I	Q63HQ2	EGFLA_HUMAN			4	815	+	all_lung(31;0.000385)		157			Fibronectin type-III 2.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.469G>A	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.365170	0.82463	.	.	ENSG00000164318	ENST00000354891;ENST00000322350	T;T	0.56941	0.43;0.43	4.73	3.86	0.44501	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.51329	0.1668	L	0.56396	1.775	0.80722	D	1	P;P	0.42556	0.783;0.57	P;B	0.44518	0.452;0.252	T	0.53613	-0.8414	10	0.72032	D	0.01	-11.1467	8.6955	0.34293	0.1056:0.0:0.8944:0.0	.	157;157	Q63HQ2;Q63HQ2-2	EGFLA_HUMAN;.	K	157	ENSP00000346964:E157K;ENSP00000313084:E157K	ENSP00000313084:E157K	E	+	1	0	EGFLAM	38388114	1.000000	0.71417	0.983000	0.44433	0.893000	0.52053	4.117000	0.57877	0.988000	0.38734	0.563000	0.77884	GAG		0.507	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		18	188	0	0	0	1	0	18	188				
RASGRP1	10125	broad.mit.edu	37	15	38810529	38810529	+	Missense_Mutation	SNP	T	T	G			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr15:38810529T>G	ENST00000310803.5	-	5	662	c.485A>C	c.(484-486)gAg>gCg	p.E162A	RASGRP1_ENST00000450598.2_Missense_Mutation_p.E162A|RASGRP1_ENST00000539159.1_Missense_Mutation_p.E114A|RASGRP1_ENST00000561180.1_Missense_Mutation_p.E213A|RASGRP1_ENST00000559830.1_Missense_Mutation_p.E162A|RASGRP1_ENST00000558164.1_Missense_Mutation_p.E162A	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	162	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				activation of Rho GTPase activity (GO:0032862)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)|secretory granule localization (GO:0032252)|signal transduction (GO:0007165)|vesicle transport along microtubule (GO:0047496)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		ATGTAACTCCTCACCCTTAGC	0.443																																						uc001zke.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(484-486)gAg>gCg		Homo sapiens RAS guanyl releasing protein 1 (calcium and DAG-regulated) (RASGRP1), transcript variant 1, mRNA.							112.0	105.0	107.0					15																	38810529		1954	4148	6102	SO:0001583	missense	10125				Ras protein signal transduction|cell differentiation|platelet activation|regulation of small GTPase mediated signal transduction	Golgi membrane|cytosol|endoplasmic reticulum membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding	g.chr15:38810529T>G	AF106071	CCDS45221.1, CCDS45222.1	15q15	2013-01-10				ENSG00000172575		"""EF-hand domain containing"""	9878	protein-coding gene	gene with protein product		603962				10087292, 9789079	Standard	NM_005739		Approved	CalDAG-GEFII, RASGRP	uc001zke.4	O95267		ENST00000310803.5:c.485A>C	15.37:g.38810529T>G	ENSP00000310244:p.Glu162Ala		Somatic				RASGRP1_uc010bbe.3_Non-coding_Transcript|RASGRP1_uc010bbf.3_Missense_Mutation_p.E24A|RASGRP1_uc010bbg.3_Missense_Mutation_p.E24A|RASGRP1_uc001zkd.4_Missense_Mutation_p.E162A	p.E162A	NM_005739	NP_005730	WXS	Illumina GAIIx	Phase_I	O95267	GRP1_HUMAN		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)	4	663	-		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)	162			N-terminal Ras-GEF.		Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Missense_Mutation	SNP	ENST00000310803.5	37	c.485A>C	CCDS45222.1	.	.	.	.	.	.	.	.	.	.	T	13.29	2.193608	0.38707	.	.	ENSG00000172575	ENST00000310803;ENST00000450598;ENST00000415523;ENST00000431814;ENST00000539159;ENST00000414708;ENST00000541438	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.03	5.03	0.67393	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (2);	0.114035	0.64402	D	0.000012	T	0.30293	0.0760	L	0.54323	1.7	0.52099	D	0.999941	B;B;B;B	0.23650	0.089;0.002;0.004;0.003	B;B;B;B	0.20577	0.03;0.002;0.002;0.009	T	0.05733	-1.0867	10	0.27785	T	0.31	-17.2498	14.9193	0.70822	0.0:0.0:0.0:1.0	.	162;162;162;162	C9JM27;C9JCE5;O95267;O95267-2	.;.;GRP1_HUMAN;.	A	162;162;162;162;114;162;162	ENSP00000310244:E162A;ENSP00000388540:E162A;ENSP00000444762:E114A;ENSP00000413105:E162A	ENSP00000310244:E162A	E	-	2	0	RASGRP1	36597821	1.000000	0.71417	0.986000	0.45419	0.998000	0.95712	5.548000	0.67255	2.128000	0.65567	0.460000	0.39030	GAG		0.443	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418223.1	NM_005739		17	13	0	0	0	1	0	17	13				
NPHS1	4868	broad.mit.edu	37	19	36334403	36334403	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr19:36334403G>A	ENST00000378910.5	-	17	2304	c.2305C>T	c.(2305-2307)Ctc>Ttc	p.L769F	NPHS1_ENST00000353632.6_Missense_Mutation_p.L769F	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	769	Ig-like C2-type 7.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ATGCCCGGGAGGATGGGATTG	0.572																																						uc002oby.3																			0				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(2305-2307)Ctc>Ttc		Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.							141.0	130.0	134.0					19																	36334403		2203	4300	6503	SO:0001583	missense	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36334403G>A		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.2305C>T	19.37:g.36334403G>A	ENSP00000368190:p.Leu769Phe		Somatic					p.L769F	NM_004646	NP_004637	WXS	Illumina GAIIx	Phase_I	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		16	2461	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		769			Ig-like C2-type 7.		A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	c.2305C>T	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958926	0.53400	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	T;T	0.79033	-1.23;-1.23	5.04	5.04	0.67666	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.512331	0.19615	N	0.110043	D	0.83248	0.5213	L	0.46157	1.445	0.27239	N	0.959203	D	0.65815	0.995	D	0.65773	0.938	T	0.76572	-0.2910	10	0.56958	D	0.05	-19.9369	14.3119	0.66422	0.0:0.0:1.0:0.0	.	769	O60500	NPHN_HUMAN	F	769	ENSP00000368190:L769F;ENSP00000343634:L769F	ENSP00000343634:L769F	L	-	1	0	NPHS1	41026243	1.000000	0.71417	1.000000	0.80357	0.618000	0.37518	3.451000	0.52964	2.532000	0.85374	0.456000	0.33151	CTC		0.572	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			5	357	0	0	0	1	0	5	357				
ERBB2	2064	broad.mit.edu	37	17	37882044	37882044	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr17:37882044A>G	ENST00000269571.5	+	23	2969	c.2810A>G	c.(2809-2811)aAg>aGg	p.K937R	ERBB2_ENST00000445658.2_Missense_Mutation_p.K661R|ERBB2_ENST00000541774.1_Missense_Mutation_p.K922R|ERBB2_ENST00000406381.2_Missense_Mutation_p.K907R|ERBB2_ENST00000584601.1_Missense_Mutation_p.K907R|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000540147.1_Missense_Mutation_p.K907R|ERBB2_ENST00000584450.1_Missense_Mutation_p.K937R			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	937	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	CTGCTGGAAAAGGGGGAGCGG	0.592		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												uc002hso.3		1		Dom	yes		17	17q21.1	2064	"""A, Mis, O"""	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""			E			"""breast, ovarian, other tumour types, NSCLC, gastric"""		0				NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247						c.(2809-2811)aAg>aGg		Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) (ERBB2), transcript variant 1, mRNA.	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						69.0	64.0	66.0					17																	37882044		2203	4300	6503	SO:0001583	missense	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of MAP kinase activity|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|ErbB-3 class receptor binding|epidermal growth factor receptor activity|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37882044A>G	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.2810A>G	17.37:g.37882044A>G	ENSP00000269571:p.Lys937Arg	TCGA GBM(5;<1E-08)	Somatic				ERBB2_uc010cwa.3_Missense_Mutation_p.K922R|ERBB2_uc002hsm.3_Missense_Mutation_p.K907R|ERBB2_uc002hsp.3_Missense_Mutation_p.K740R|ERBB2_uc010cwb.3_Missense_Mutation_p.K937R|ERBB2_uc010wek.2_Missense_Mutation_p.K661R|MIR4728_uc021twt.1_5'Flank	p.K937R	NM_004448	NP_001005862	WXS	Illumina GAIIx	Phase_I	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	22	3048	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	937			Protein kinase.		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	c.2810A>G	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	A	13.29	2.193682	0.38707	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64	5.53	5.53	0.82687	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.74504	0.3725	N	0.21508	0.67	0.80722	D	1	B;P;B	0.41910	0.242;0.764;0.242	B;B;B	0.38655	0.172;0.278;0.172	T	0.78969	-0.1994	9	0.72032	D	0.01	.	15.33	0.74200	1.0:0.0:0.0:0.0	.	661;922;937	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	R	907;922;661;937;907	ENSP00000385185:K907R;ENSP00000446466:K922R;ENSP00000404047:K661R;ENSP00000269571:K937R;ENSP00000443562:K907R	ENSP00000269571:K937R	K	+	2	0	ERBB2	35135570	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.819000	0.62664	2.099000	0.63709	0.460000	0.39030	AAG		0.592	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			4	117	0	0	0	1	0	4	117				
C15orf27	123591	broad.mit.edu	37	15	76467946	76467946	+	Silent	SNP	G	G	A			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr15:76467946G>A	ENST00000388942.3	+	8	975	c.699G>A	c.(697-699)caG>caA	p.Q233Q	RP11-593F23.1_ENST00000558424.1_RNA	NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	233					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|membrane depolarization during action potential (GO:0086010)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						TTATCCAGCAGTACGAGAAGG	0.552																																						uc002bbq.3																			0				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						c.(697-699)caG>caA		Homo sapiens chromosome 15 open reading frame 27 (C15orf27), mRNA.							132.0	109.0	117.0					15																	76467946		2197	4294	6491	SO:0001819	synonymous_variant	123591					integral to membrane		g.chr15:76467946G>A	AK095509	CCDS10289.2	15q23-q24.1	2012-09-27			ENSG00000169758	ENSG00000169758			26763	protein-coding gene	gene with protein product						14702039, 22020278	Standard	NM_152335		Approved	FLJ38190	uc002bbq.3	Q2M3C6	OTTHUMG00000142918	ENST00000388942.3:c.699G>A	15.37:g.76467946G>A			Somatic				C15orf27_uc010bkp.3_Silent_p.Q49Q|C15orf27_uc002bbr.3_Silent_p.Q49Q	p.Q233Q	NM_152335	NP_689548	WXS	Illumina GAIIx	Phase_I	Q2M3C6	CO027_HUMAN			7	854	+			233					Q8N993|Q96LL5	Silent	SNP	ENST00000388942.3	37	c.699G>A	CCDS10289.2																																																																																				0.552	C15orf27-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286637.2	NM_152335		3	102	0	0	0	1	0	3	102				
DDX18	8886	broad.mit.edu	37	2	118583110	118583110	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr2:118583110G>A	ENST00000263239.2	+	10	1584	c.1456G>A	c.(1456-1458)Gcg>Acg	p.A486T		NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	486	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GGATGTGGCAGCGAGAGGACT	0.433																																						uc002tlh.1																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1456-1458)Gcg>Acg		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 (DDX18), mRNA.							126.0	112.0	117.0					2																	118583110		2203	4300	6503	SO:0001583	missense	8886						ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr2:118583110G>A	X98743	CCDS2120.1	2q21.2	2008-02-05	2003-06-13		ENSG00000088205	ENSG00000088205		"""DEAD-boxes"""	2741	protein-coding gene	gene with protein product		606355	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)"""			8861962	Standard	NM_006773		Approved	MrDb	uc002tlh.1	Q9NVP1	OTTHUMG00000058521	ENST00000263239.2:c.1456G>A	2.37:g.118583110G>A	ENSP00000263239:p.Ala486Thr		Somatic					p.A486T	NM_006773	NP_006764	WXS	Illumina GAIIx	Phase_I	Q9NVP1	DDX18_HUMAN			9	1555	+			486			Helicase C-terminal.		Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Missense_Mutation	SNP	ENST00000263239.2	37	c.1456G>A	CCDS2120.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328985	0.81690	.	.	ENSG00000088205	ENST00000263239;ENST00000539346;ENST00000415038	T;T	0.05649	3.41;3.41	4.72	4.72	0.59763	Helicase, C-terminal (3);	0.098051	0.64402	N	0.000001	T	0.35828	0.0945	H	0.94503	3.545	0.80722	D	1	D	0.71674	0.998	D	0.67382	0.951	T	0.53330	-0.8454	10	0.87932	D	0	-0.0311	18.2335	0.89942	0.0:0.0:1.0:0.0	.	486	Q9NVP1	DDX18_HUMAN	T	486;225;150	ENSP00000263239:A486T;ENSP00000415604:A150T	ENSP00000263239:A486T	A	+	1	0	DDX18	118299580	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	9.297000	0.96120	2.628000	0.89032	0.650000	0.86243	GCG		0.433	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129632.3	NM_006773		3	131	0	0	0	1	0	3	131				
ABI2	10152	broad.mit.edu	37	2	204259430	204259430	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr2:204259430T>C	ENST00000422511.2	+	6	617	c.586T>C	c.(586-588)Tcc>Ccc	p.S196P	ABI2_ENST00000430574.1_3'UTR|ABI2_ENST00000424558.1_Missense_Mutation_p.S190P|ABI2_ENST00000430418.1_Intron|ABI2_ENST00000261016.6_Missense_Mutation_p.S145P|RAPH1_ENST00000457812.1_3'UTR|ABI2_ENST00000295851.5_Missense_Mutation_p.S196P|ABI2_ENST00000261018.7_Intron|ABI2_ENST00000261017.5_Missense_Mutation_p.S190P			Q9NYB9	ABI2_HUMAN	abl-interactor 2	196	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|cell migration (GO:0016477)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|Rac protein signal transduction (GO:0016601)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	cytoskeletal adaptor activity (GO:0008093)|DNA binding (GO:0003677)|kinase binding (GO:0019900)|proline-rich region binding (GO:0070064)|protein complex binding (GO:0032403)|SH3 domain binding (GO:0017124)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						TAGGCGGCACTCCCCCTATCG	0.473																																						uc002vaa.3																			0				breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						c.(586-588)Tcc>Ccc		Homo sapiens abl-interactor 2 (ABI2), mRNA.							109.0	101.0	103.0					2																	204259430		2203	4300	6503	SO:0001583	missense	10152				actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	DNA binding|SH3 domain binding|cytoskeletal adaptor activity|kinase binding|proline-rich region binding|ubiquitin protein ligase binding	g.chr2:204259430T>C	AF260261	CCDS2358.1, CCDS63093.1, CCDS63094.1, CCDS74634.1	2q33	2010-09-20	2009-07-23		ENSG00000138443	ENSG00000138443			24011	protein-coding gene	gene with protein product		606442				7590236, 10964520	Standard	XM_005246217		Approved	ABI-2, AIP-1, ABI2B, AblBP3, argBPIA, SSH3BP2	uc002uzz.3	Q9NYB9	OTTHUMG00000132879	ENST00000422511.2:c.586T>C	2.37:g.204259430T>C	ENSP00000396249:p.Ser196Pro		Somatic				ABI2_uc010zig.1_Intron|ABI2_uc010zij.2_Missense_Mutation_p.S134P|ABI2_uc002uzz.3_Missense_Mutation_p.S190P|ABI2_uc010zih.2_Intron|ABI2_uc010zii.2_Missense_Mutation_p.S190P|ABI2_uc002vab.3_Missense_Mutation_p.S145P|ABI2_uc010zik.2_Intron|ABI2_uc010zil.2_Missense_Mutation_p.S31P|ABI2_uc010zim.2_Intron|ABI2_uc002vac.3_Intron|ABI2_uc010zin.2_5'UTR	p.S196P	NM_005759	NP_005750	WXS	Illumina GAIIx	Phase_I	Q9NYB9	ABI2_HUMAN			5	821	+			196			Pro-rich.		B4DSN1|Q13147|Q13249|Q13801|Q9BV70	Missense_Mutation	SNP	ENST00000422511.2	37	c.586T>C		.	.	.	.	.	.	.	.	.	.	T	21.9	4.217353	0.79352	.	.	ENSG00000138443	ENST00000295851;ENST00000261017;ENST00000424558;ENST00000261016;ENST00000417864;ENST00000422511	D;D;D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98;-2.98;-2.98	5.86	5.86	0.93980	.	0.048494	0.85682	D	0.000000	D	0.92756	0.7697	L	0.33485	1.01	0.80722	D	1	D;D;D;P;D;P	0.67145	0.963;0.984;0.994;0.949;0.996;0.841	P;P;P;P;P;P	0.59889	0.61;0.811;0.865;0.743;0.806;0.791	D	0.93759	0.7065	10	0.87932	D	0	-7.5122	16.2652	0.82574	0.0:0.0:0.0:1.0	.	31;134;190;145;196;190	B7Z612;B7Z836;Q9NYB9-4;Q9NYB9-3;Q9NYB9;Q9NYB9-2	.;.;.;.;ABI2_HUMAN;.	P	196;190;190;145;196;196	ENSP00000295851:S196P;ENSP00000261017:S190P;ENSP00000391433:S190P;ENSP00000261016:S145P;ENSP00000414703:S196P;ENSP00000396249:S196P	ENSP00000261016:S145P	S	+	1	0	ABI2	203967675	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.029000	0.70895	2.241000	0.73720	0.528000	0.53228	TCC		0.473	ABI2-007	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000336179.2	NM_005759		3	190	0	0	0	1	0	3	190				
LATS2	26524	broad.mit.edu	37	13	21562776	21562776	+	Silent	SNP	C	C	A			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr13:21562776C>A	ENST00000382592.4	-	4	1548	c.1143G>T	c.(1141-1143)ctG>ctT	p.L381L	LATS2_ENST00000542899.1_Silent_p.L381L|LATS2_ENST00000472754.1_5'Flank	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2											breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CCGGCTTCTGCAGGGAGTCCC	0.701																																						uc009zzs.3																			0				breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45						c.(1141-1143)ctG>ctT		Homo sapiens LATS, large tumor suppressor, homolog 2 (Drosophila) (LATS2), mRNA.							10.0	14.0	12.0					13																	21562776		2117	4107	6224	SO:0001819	synonymous_variant	26524				G1/S transition of mitotic cell cycle|cell division|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:21562776C>A	AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"""LATS (large tumor suppressor, Drosophila) homolog 2"", ""LATS, large tumor suppressor, homolog 2 (Drosophila)"""			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.1143G>T	13.37:g.21562776C>A			Somatic				LATS2_uc001unr.4_Silent_p.L381L	p.L381L	NM_014572	NP_055387	WXS	Illumina GAIIx	Phase_I	Q9NRM7	LATS2_HUMAN		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)	3	1508	-		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	381						Silent	SNP	ENST00000382592.4	37	c.1143G>T	CCDS9294.1																																																																																				0.701	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			3	39	0	0	0	1	0	3	39				
C10orf90	118611	broad.mit.edu	37	10	128193188	128193188	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr10:128193188G>A	ENST00000284694.7	-	3	701	c.581C>T	c.(580-582)gCc>gTc	p.A194V	C10orf90_ENST00000544758.1_Missense_Mutation_p.A291V|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000356858.3_Missense_Mutation_p.A147V|C10orf90_ENST00000392694.1_Missense_Mutation_p.A147V|C10orf90_ENST00000454341.1_Missense_Mutation_p.A194V	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	194	Required for interaction with HDAC1. {ECO:0000250}.				mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CTCTGTGCAGGCAAAAGATCT	0.612											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010qum.2																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(871-873)gCc>gTc		Homo sapiens chromosome 10 open reading frame 90 (C10orf90), mRNA.							60.0	66.0	64.0					10																	128193188		2203	4300	6503	SO:0001583	missense	118611							g.chr10:128193188G>A	BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"""fragile-site associated tumor suppressor"""					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.581C>T	10.37:g.128193188G>A	ENSP00000284694:p.Ala194Val		Somatic	OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1563	C10orf90_uc001ljp.3_Missense_Mutation_p.A147V|C10orf90_uc001ljq.3_Missense_Mutation_p.A194V|C10orf90_uc009yao.2_Missense_Mutation_p.A291V|C10orf90_uc001ljs.1_Missense_Mutation_p.A147V	p.A291V	NM_001004298	NP_001004298	WXS	Illumina GAIIx	Phase_I	Q96M02	CJ090_HUMAN		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)	3	902	-		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)	194					B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	ENST00000284694.7	37	c.872C>T	CCDS31310.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.932709	0.52866	.	.	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642;ENST00000368674;ENST00000392694	T;T;T;T;T	0.23552	2.22;2.22;2.21;2.22;1.9	4.74	-4.35	0.03656	.	2.384410	0.01288	N	0.009928	T	0.18635	0.0447	L	0.36672	1.1	0.09310	N	1	P;P;P;B;B	0.43352	0.804;0.804;0.804;0.418;0.007	B;B;B;B;B	0.38225	0.268;0.268;0.194;0.173;0.005	T	0.37126	-0.9719	10	0.62326	D	0.03	2.1478	5.2111	0.15316	0.076:0.418:0.2943:0.2117	.	291;291;147;194;194	F5GZL2;B4DMQ6;Q5T024;Q96M02;Q96M02-2	.;.;.;CJ090_HUMAN;.	V	147;194;194;291;194;147;147	ENSP00000284694:A194V;ENSP00000398786:A194V;ENSP00000444369:A291V;ENSP00000405995:A194V;ENSP00000376459:A147V	ENSP00000284694:A194V	A	-	2	0	C10orf90	128183178	0.000000	0.05858	0.000000	0.03702	0.170000	0.22686	-0.445000	0.06845	-0.369000	0.08028	0.467000	0.42956	GCC		0.612	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298		7	153	0	0	0	1	0	7	153				
MLLT4	4301	broad.mit.edu	37	6	168352394	168352394	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr6:168352394C>G	ENST00000447894.2	+	29	4339	c.4339C>G	c.(4339-4341)Cag>Gag	p.Q1447E	MLLT4_ENST00000344191.4_Missense_Mutation_p.Q1447E|MLLT4_ENST00000392108.3_Missense_Mutation_p.Q1447E|MLLT4_ENST00000366806.2_Missense_Mutation_p.Q1447E|MLLT4_ENST00000392112.1_Missense_Mutation_p.Q1430E|MLLT4_ENST00000351017.4_Missense_Mutation_p.Q1454E|MLLT4_ENST00000400822.3_Missense_Mutation_p.Q1446E			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1447					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GATGCGCACTCAGTCCTTAAA	0.577			T	MLL	AL																																	uc021zik.1				Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(4216-4218)Cag>Gag		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.							130.0	118.0	122.0					6																	168352394		2203	4300	6503	SO:0001583	missense	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168352394C>G	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.4339C>G	6.37:g.168352394C>G	ENSP00000404595:p.Gln1447Glu		Somatic				MLLT4_uc003qwb.1_Missense_Mutation_p.Q1431E|MLLT4_uc003qwc.2_Missense_Mutation_p.Q1447E|MLLT4_uc021zij.1_Missense_Mutation_p.Q1430E|MLLT4_uc021zim.1_Missense_Mutation_p.Q993E|MLLT4_uc003qwg.1_Missense_Mutation_p.Q756E	p.Q1406E	NM_001040000	NP_001035089	WXS	Illumina GAIIx	Phase_I	P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	28	4535	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	1447					O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37	c.4216C>G		.	.	.	.	.	.	.	.	.	.	C	10.99	1.508735	0.27036	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.04706	3.76;3.72;3.77;3.8;3.57;3.71;3.71	5.39	5.39	0.77823	.	0.361992	0.29431	N	0.012172	T	0.02533	0.0077	L	0.51422	1.61	0.26362	N	0.977024	P;P;P;P	0.42692	0.495;0.787;0.571;0.571	B;B;B;B	0.41691	0.115;0.364;0.163;0.163	T	0.49283	-0.8956	10	0.06236	T	0.91	-4.5856	19.1739	0.93594	0.0:1.0:0.0:0.0	.	1447;1446;1447;1431	P55196;P55196-5;P55196-6;P55196-2	AFAD_HUMAN;.;.;.	E	1447;1454;1447;1447;1430;1447;1446;1447	ENSP00000341118:Q1447E;ENSP00000252692:Q1454E;ENSP00000375956:Q1447E;ENSP00000355771:Q1447E;ENSP00000375960:Q1430E;ENSP00000383623:Q1446E;ENSP00000404595:Q1447E	ENSP00000345834:Q1447E	Q	+	1	0	MLLT4	168095243	0.962000	0.33011	0.019000	0.16419	0.434000	0.31775	5.899000	0.69846	2.526000	0.85167	0.561000	0.74099	CAG		0.577	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		17	263	0	0	0	1	0	17	263				
DIDO1	11083	broad.mit.edu	37	20	61542301	61542301	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr20:61542301C>T	ENST00000266070.4	-	3	989	c.664G>A	c.(664-666)Gat>Aat	p.D222N	DIDO1_ENST00000370366.1_Missense_Mutation_p.D222N|DIDO1_ENST00000370368.1_Missense_Mutation_p.D222N|DIDO1_ENST00000395335.2_Missense_Mutation_p.D222N|DIDO1_ENST00000354665.4_Missense_Mutation_p.D222N|DIDO1_ENST00000370371.4_Missense_Mutation_p.D222N|DIDO1_ENST00000395343.1_Missense_Mutation_p.D222N|DIDO1_ENST00000266071.5_Missense_Mutation_p.D222N|DIDO1_ENST00000395340.1_Missense_Mutation_p.D222N	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	222					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					ACCCCCTGATCGTTCTCGGGC	0.622																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.2																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(664-666)Gat>Aat		Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.							82.0	86.0	85.0					20																	61542301		2203	4300	6503	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61542301C>T	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.664G>A	20.37:g.61542301C>T	ENSP00000266070:p.Asp222Asn		Somatic				DIDO1_uc002yds.2_Missense_Mutation_p.D222N|DIDO1_uc002ydt.2_Missense_Mutation_p.D222N|DIDO1_uc002ydu.2_Missense_Mutation_p.D222N|DIDO1_uc002ydv.2_Missense_Mutation_p.D222N|DIDO1_uc002ydw.2_Missense_Mutation_p.D222N|DIDO1_uc002ydx.2_Missense_Mutation_p.D222N|DIDO1_uc011aao.1_Missense_Mutation_p.D222N	p.D222N	NM_001193369	NP_149072	WXS	Illumina GAIIx	Phase_I	Q9BTC0	DIDO1_HUMAN			2	976	-	Breast(26;5.68e-08)		222					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.664G>A	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.501547	0.26861	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335;ENST00000370371;ENST00000370368;ENST00000354665;ENST00000370366;ENST00000266071	T;T;T;T;T;T;T;T;T	0.17854	3.39;3.39;2.76;2.76;2.25;2.25;2.25;2.26;2.26	5.5	3.55	0.40652	.	0.973173	0.08356	U	0.958419	T	0.10594	0.0259	L	0.51422	1.61	0.09310	N	1	B;P;P;P	0.44006	0.145;0.813;0.813;0.824	B;B;B;B	0.22386	0.024;0.039;0.039;0.017	T	0.24764	-1.0151	10	0.14656	T	0.56	-0.4946	5.6085	0.17392	0.0:0.6236:0.1431:0.2333	.	222;222;222;222	Q9BTC0-2;Q9BTC0-3;Q9BTC0-1;Q9BTC0	.;.;.;DIDO1_HUMAN	N	222	ENSP00000266070:D222N;ENSP00000378752:D222N;ENSP00000378749:D222N;ENSP00000378744:D222N;ENSP00000359397:D222N;ENSP00000359394:D222N;ENSP00000346692:D222N;ENSP00000359391:D222N;ENSP00000266071:D222N	ENSP00000266070:D222N	D	-	1	0	DIDO1	61012746	0.012000	0.17670	0.028000	0.17463	0.126000	0.20510	0.505000	0.22642	0.664000	0.31047	0.561000	0.74099	GAT		0.622	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		4	72	0	0	0	1	0	4	72				
RBBP4	5928	broad.mit.edu	37	1	33123032	33123032	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr1:33123032G>A	ENST00000373493.5	+	3	328	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	RBBP4_ENST00000544435.1_Intron|RBBP4_ENST00000524393.1_Intron|RBBP4_ENST00000373485.1_Missense_Mutation_p.E57K|RBBP4_ENST00000414241.3_Missense_Mutation_p.E56K|RBBP4_ENST00000458695.2_Missense_Mutation_p.E22K	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4	57					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin assembly (GO:0031497)|chromatin remodeling (GO:0006338)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|nucleosome assembly (GO:0006334)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|NURF complex (GO:0016589)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				TTACAGACCAGAAGGGAAAGA	0.413																																						uc001bvr.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15						c.(169-171)Gaa>Aaa		Homo sapiens retinoblastoma binding protein 4 (RBBP4), transcript variant 1, mRNA.							109.0	99.0	102.0					1																	33123032		2203	4300	6503	SO:0001583	missense	5928				CenH3-containing nucleosome assembly at centromere|DNA replication|cell cycle|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NURF complex|NuRD complex|Sin3 complex	histone binding|histone deacetylase binding	g.chr1:33123032G>A	BC053904	CCDS366.1, CCDS44105.1, CCDS44106.1	1p35.1	2014-07-17	2001-11-28		ENSG00000162521	ENSG00000162521		"""WD repeat domain containing"""	9887	protein-coding gene	gene with protein product		602923	"""retinoblastoma-binding protein 4"""			8350924, 14609955, 17531812	Standard	NM_005610		Approved	RbAp48, NURF55, lin-53	uc001bvr.3	Q09028	OTTHUMG00000007998	ENST00000373493.5:c.169G>A	1.37:g.33123032G>A	ENSP00000362592:p.Glu57Lys		Somatic				RBBP4_uc001bvs.3_Missense_Mutation_p.E56K|RBBP4_uc010ohj.2_Intron|RBBP4_uc010ohk.2_Missense_Mutation_p.E22K	p.E57K	NM_005610	NP_001128728	WXS	Illumina GAIIx	Phase_I	Q09028	RBBP4_HUMAN			2	328	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	57					B2R6G9|B4DRH0|D3DPQ3|P31149|Q53H02|Q96BV9	Missense_Mutation	SNP	ENST00000373493.5	37	c.169G>A	CCDS366.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.502438	0.44455	.	.	ENSG00000162521	ENST00000414241;ENST00000373493;ENST00000373485;ENST00000458695;ENST00000490500;ENST00000445722	T;T;T;T	0.69306	-0.35;-0.39;-0.28;-0.37	5.13	5.13	0.70059	.	0.044278	0.85682	D	0.000000	T	0.59074	0.2167	L	0.47716	1.5	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.14023	0.004;0.01	T	0.55872	-0.8072	10	0.08599	T	0.76	.	17.9525	0.89058	0.0:0.0:1.0:0.0	.	56;57	Q09028-2;Q09028	.;RBBP4_HUMAN	K	56;57;57;22;22;22	ENSP00000398242:E56K;ENSP00000362592:E57K;ENSP00000362584:E57K;ENSP00000396057:E22K	ENSP00000362584:E57K	E	+	1	0	RBBP4	32895619	1.000000	0.71417	1.000000	0.80357	0.469000	0.32828	9.638000	0.98445	2.559000	0.86315	0.491000	0.48974	GAA		0.413	RBBP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021957.3	NM_005610		6	107	0	0	0	1	0	6	107				
DLC1	10395	broad.mit.edu	37	8	12957624	12957624	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr8:12957624C>G	ENST00000276297.4	-	9	2631	c.2222G>C	c.(2221-2223)aGc>aCc	p.S741T	DLC1_ENST00000512044.2_Missense_Mutation_p.S338T|DLC1_ENST00000520226.1_Missense_Mutation_p.S230T|DLC1_ENST00000358919.2_Missense_Mutation_p.S304T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	741	Focal adhesion-targeting (FAT).|Poly-Ser.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCTGCTGCTGCTGGTCTGCGT	0.627																																						uc003wwm.2																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(2221-2223)aGc>aCc		Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.							56.0	47.0	50.0					8																	12957624		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957624C>G	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2222G>C	8.37:g.12957624C>G	ENSP00000276297:p.Ser741Thr		Somatic				DLC1_uc003wwk.1_Missense_Mutation_p.S304T|DLC1_uc003wwl.1_Missense_Mutation_p.S338T|DLC1_uc011kxx.1_Missense_Mutation_p.S230T	p.S741T	NM_182643	NP_872584	WXS	Illumina GAIIx	Phase_I	Q96QB1	RHG07_HUMAN			8	2666	-			741			Poly-Ser.		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.2222G>C	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320479	0.81469	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.07688	3.42;3.19;3.19;3.17	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.31979	0.0814	M	0.80422	2.495	0.80722	D	1	D;B;D	0.65815	0.995;0.103;0.99	P;B;D	0.72982	0.795;0.132;0.979	T	0.09975	-1.0650	10	0.66056	D	0.02	.	17.9274	0.88987	0.0:1.0:0.0:0.0	.	741;338;304	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	T	741;304;338;230	ENSP00000276297:S741T;ENSP00000351797:S304T;ENSP00000422595:S338T;ENSP00000428028:S230T	ENSP00000276297:S741T	S	-	2	0	DLC1	13001995	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.462000	0.80851	2.527000	0.85204	0.561000	0.74099	AGC		0.627	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		3	98	0	0	0	1	0	3	98				
DYRK1B	9149	broad.mit.edu	37	19	40318234	40318234	+	Silent	SNP	G	G	A	rs78838108	byFrequency	TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr19:40318234G>A	ENST00000593685.1	-	7	1338	c.870C>T	c.(868-870)taC>taT	p.Y290Y	DYRK1B_ENST00000348817.3_Silent_p.Y290Y|DYRK1B_ENST00000597639.1_Silent_p.Y290Y|DYRK1B_ENST00000323039.5_Silent_p.Y290Y|DYRK1B_ENST00000430012.2_Silent_p.Y290Y			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	290	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			TGGCCAGGTCGTAGGGTGTGC	0.597													G|||	5	0.000998403	0.0038	0.0	5008	,	,		17848	0.0		0.0	False		,,,				2504	0.0					uc002omj.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(868-870)taC>taT		Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B (DYRK1B), transcript variant a, mRNA.		G	,,	5,4401	11.4+/-27.6	0,5,2198	74.0	67.0	69.0		870,870,870	-7.1	0.9	19	dbSNP_131	69	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	DYRK1B	NM_004714.1,NM_006483.1,NM_006484.1	,,	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	,,	290/630,290/590,290/602	40318234	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	9149				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity	g.chr19:40318234G>A	Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"""minibrain-related kinase"""	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.870C>T	19.37:g.40318234G>A			Somatic				DYRK1B_uc002omi.3_Silent_p.Y290Y|DYRK1B_uc002omk.3_Silent_p.Y290Y	p.Y290Y	NM_004714	NP_004705	WXS	Illumina GAIIx	Phase_I	Q9Y463	DYR1B_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)		6	1150	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		290			Protein kinase.		O75258|O75788|O75789	Silent	SNP	ENST00000593685.1	37	c.870C>T	CCDS12543.1																																																																																				0.597	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714		3	116	0	0	0	1	0	3	116				
ZBTB3	79842	broad.mit.edu	37	11	62520401	62520401	+	Silent	SNP	G	G	A	rs185887296		TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr11:62520401G>A	ENST00000394807.3	-	2	1011	c.886C>T	c.(886-888)Ctg>Ttg	p.L296L		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	296	Pro-rich.				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(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						AGAGATGGCAGTGGCTCCAAT	0.542													G|||	1	0.000199681	0.0	0.0	5008	,	,		21069	0.001		0.0	False		,,,				2504	0.0					uc001nuz.3																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						c.(886-888)Ctg>Ttg		Homo sapiens zinc finger and BTB domain containing 3 (ZBTB3), mRNA.							66.0	60.0	62.0					11																	62520401		2202	4299	6501	SO:0001819	synonymous_variant	79842				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:62520401G>A	AK027045	CCDS8034.1	11q12.3	2013-01-09				ENSG00000185670		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	22918	protein-coding gene	gene with protein product							Standard	NM_024784		Approved	FLJ23392	uc001nuz.3	Q9H5J0		ENST00000394807.3:c.886C>T	11.37:g.62520401G>A			Somatic					p.L296L	NM_024784	NP_079060	WXS	Illumina GAIIx	Phase_I	Q9H5J0	ZBTB3_HUMAN			1	1008	-			296			Pro-rich.			Silent	SNP	ENST00000394807.3	37	c.886C>T	CCDS8034.1																																																																																				0.542	ZBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395342.1	NM_024784		3	88	0	0	0	1	0	3	88				
IRF4	3662	broad.mit.edu	37	6	407546	407546	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr6:407546G>A	ENST00000380956.4	+	9	1430	c.1304G>A	c.(1303-1305)aGc>aAc	p.S435N		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	435					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		GAACACATCAGCAATCCAGAA	0.353			T	IGH@	MM																																	uc003msz.4				Dom	yes		6	6p25-p23	3662	T	interferon regulatory factor 4			L	IGH@		MM		0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5						c.(1303-1305)aGc>aAc		Homo sapiens interferon regulatory factor 4 (IRF4), transcript variant 1, mRNA.							94.0	93.0	93.0					6																	407546		2203	4300	6503	SO:0001583	missense	3662				T cell activation|interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:407546G>A	U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.1304G>A	6.37:g.407546G>A	ENSP00000370343:p.Ser435Asn		Somatic				IRF4_uc003mtb.4_Missense_Mutation_p.S434N|IRF4_uc021ykl.1_Missense_Mutation_p.S281N|IRF4_uc003mta.4_Non-coding_Transcript	p.S435N	NM_002460	NP_002451	WXS	Illumina GAIIx	Phase_I	Q15306	IRF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)	8	1430	+		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	435					Q5VUI7|Q99660	Missense_Mutation	SNP	ENST00000380956.4	37	c.1304G>A	CCDS4469.1	.	.	.	.	.	.	.	.	.	.	G	6.450	0.451122	0.12223	.	.	ENSG00000137265	ENST00000380956;ENST00000412334	D	0.96232	-3.95	5.51	3.67	0.42095	SMAD domain-like (1);SMAD/FHA domain (1);	1.013590	0.07857	N	0.965575	D	0.88407	0.6428	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.002	T	0.81360	-0.0968	10	0.49607	T	0.09	-17.2981	15.3401	0.74290	0.0:0.3953:0.6047:0.0	.	434;435	Q15306-2;Q15306	.;IRF4_HUMAN	N	435;464	ENSP00000370343:S435N	ENSP00000370343:S435N	S	+	2	0	IRF4	352546	0.021000	0.18746	0.595000	0.28798	0.361000	0.29550	0.691000	0.25467	1.311000	0.45024	0.655000	0.94253	AGC		0.353	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043638.1			3	67	0	0	0	1	0	3	67				
SYTL4	94121	broad.mit.edu	37	X	99942164	99942164	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chrX:99942164A>G	ENST00000372989.1	-	13	1415	c.1084T>C	c.(1084-1086)Ttt>Ctt	p.F362L	SYTL4_ENST00000454200.2_Missense_Mutation_p.F364L|SYTL4_ENST00000276141.6_Missense_Mutation_p.F362L|SYTL4_ENST00000263033.5_Missense_Mutation_p.F362L|SYTL4_ENST00000372981.1_3'UTR|SYTL4_ENST00000455616.1_Missense_Mutation_p.F362L	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	362	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TTCAGGGAAAAGGCAATCCTG	0.502																																						uc004egd.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27						c.(1084-1086)Ttt>Ctt		Homo sapiens synaptotagmin-like 4 (SYTL4), transcript variant 1, mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						102.0	81.0	88.0					X																	99942164		2203	4300	6503	SO:0001583	missense	94121				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	Rab GTPase binding|neurexin binding|phospholipid binding|transporter activity|zinc ion binding	g.chrX:99942164A>G		CCDS14472.1	Xq21.33	2008-07-31	2008-07-31		ENSG00000102362	ENSG00000102362			15588	protein-coding gene	gene with protein product	"""granuphilin-a"", ""exophilin-2"""	300723					Standard	NM_080737		Approved		uc010nnc.3	Q96C24	OTTHUMG00000022004	ENST00000372989.1:c.1084T>C	X.37:g.99942164A>G	ENSP00000362080:p.Phe362Leu		Somatic				SYTL4_uc010nnb.3_Missense_Mutation_p.F34L|SYTL4_uc010nnc.3_Missense_Mutation_p.F362L|SYTL4_uc004ege.4_Missense_Mutation_p.F362L|SYTL4_uc004egf.4_Missense_Mutation_p.F362L|SYTL4_uc004egg.4_3'UTR	p.F362L	NM_080737	NP_542775	WXS	Illumina GAIIx	Phase_I	Q96C24	SYTL4_HUMAN			12	1440	-			362			C2 1.		Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Missense_Mutation	SNP	ENST00000372989.1	37	c.1084T>C	CCDS14472.1	.	.	.	.	.	.	.	.	.	.	A	8.669	0.902470	0.17760	.	.	ENSG00000102362	ENST00000372989;ENST00000455616;ENST00000454200;ENST00000276141;ENST00000263033	T;T;T;T;T	0.07216	3.21;3.21;3.21;3.21;3.21	5.98	4.71	0.59529	C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.043536	0.85682	D	0.000000	T	0.05914	0.0154	N	0.17674	0.51	0.58432	D	0.999999	B	0.24533	0.105	B	0.20384	0.029	T	0.41945	-0.9480	9	.	.	.	-17.0152	12.5658	0.56308	0.8651:0.0:0.0:0.1348	.	362	Q96C24	SYTL4_HUMAN	L	362;362;364;362;362	ENSP00000362080:F362L;ENSP00000390252:F362L;ENSP00000403556:F364L;ENSP00000276141:F362L;ENSP00000263033:F362L	.	F	-	1	0	SYTL4	99828820	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	5.054000	0.64275	2.021000	0.59480	0.481000	0.45027	TTT		0.502	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057488.1	NM_080737		3	114	0	0	0	1	0	3	114				
TRIM51	84767	broad.mit.edu	37	11	55659057	55659057	+	Silent	SNP	T	T	C			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr11:55659057T>C	ENST00000449290.2	+	7	1400	c.1308T>C	c.(1306-1308)aaT>aaC	p.N436N	TRIM51_ENST00000244891.3_Silent_p.N293N	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	436	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)										CCATCCCCAATTGCTCCTTCT	0.453																																						uc010rip.2																			0											c.(1306-1308)aaT>aaC		Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA.							122.0	124.0	123.0					11																	55659057		2173	4219	6392	SO:0001819	synonymous_variant	84767					intracellular	zinc ion binding	g.chr11:55659057T>C	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.1308T>C	11.37:g.55659057T>C			Somatic				TRIM51_uc010riq.2_Silent_p.N293N	p.N436N	NM_032681	NP_116070	WXS	Illumina GAIIx	Phase_I	Q9BSJ1	SPRY5_HUMAN			6	1400	+			436			B30.2/SPRY.		A6NMG2	Silent	SNP	ENST00000449290.2	37	c.1308T>C																																																																																					0.453	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		12	198	0	0	0	1	0	12	198				
GPAM	57678	broad.mit.edu	37	10	113920471	113920471	+	Silent	SNP	G	G	A			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr10:113920471G>A	ENST00000348367.4	-	16	1847	c.1650C>T	c.(1648-1650)agC>agT	p.S550S	GPAM_ENST00000369425.1_Silent_p.S550S|GPAM_ENST00000423155.1_Silent_p.S550S			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	550					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|defense response to virus (GO:0051607)|fatty acid homeostasis (GO:0055089)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|interleukin-2 secretion (GO:0070970)|negative regulation of activation-induced cell death of T cells (GO:0070236)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of multicellular organism growth (GO:0040018)|regulation of cytokine secretion (GO:0050707)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		CATCGTTCCTGCTAGTGTGGG	0.458																																					Ovarian(161;1017 2606 18293 52943)	uc009xxy.2																			0				breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1648-1650)agC>agT		Homo sapiens glycerol-3-phosphate acyltransferase, mitochondrial (GPAM), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.							153.0	125.0	135.0					10																	113920471		2203	4300	6503	SO:0001819	synonymous_variant	57678				phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr10:113920471G>A	AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927			24865	protein-coding gene	gene with protein product	"""glycerol-3-phosphate acyltransferase 1, mitochondrial"""	602395				10997877, 8369314	Standard	NM_020918		Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.1650C>T	10.37:g.113920471G>A			Somatic				GPAM_uc001kzp.3_Silent_p.S550S|GPAM_uc001kzq.1_Silent_p.S550S	p.S550S	NM_020918	NP_065969	WXS	Illumina GAIIx	Phase_I	Q9HCL2	GPAT1_HUMAN		Epithelial(162;0.0306)|all cancers(201;0.123)	15	1860	-			550					Q5VW51|Q86TA3	Silent	SNP	ENST00000348367.4	37	c.1650C>T	CCDS7570.1																																																																																				0.458	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050377.1	NM_020918		38	51	0	0	0	1	0	38	51				
BPTF	2186	broad.mit.edu	37	17	65871028	65871028	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr17:65871028G>C	ENST00000321892.4	+	4	1817	c.1756G>C	c.(1756-1758)Gac>Cac	p.D586H	BPTF_ENST00000424123.3_Missense_Mutation_p.D447H|BPTF_ENST00000335221.5_Missense_Mutation_p.D586H|BPTF_ENST00000306378.6_Missense_Mutation_p.D586H			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	586					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GACTGAGAATGACTCTAAAGA	0.373																																						uc002jgf.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(1756-1758)Gac>Cac		Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.							108.0	112.0	110.0					17																	65871028		2203	4300	6503	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65871028G>C	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.1756G>C	17.37:g.65871028G>C	ENSP00000315454:p.Asp586His		Somatic				BPTF_uc002jge.3_Missense_Mutation_p.D586H|BPTF_uc010wqm.1_Missense_Mutation_p.D586H	p.D586H	NM_182641	NP_872579	WXS	Illumina GAIIx	Phase_I	Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		3	1817	+	all_cancers(12;6e-11)		699					Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.1756G>C		.	.	.	.	.	.	.	.	.	.	G	2.854	-0.237615	0.05944	.	.	ENSG00000171634	ENST00000544491;ENST00000306378;ENST00000335221;ENST00000321892;ENST00000544778	T;T;T	0.62788	0.02;-0.0;0.01	4.79	2.4	0.29515	.	.	.	.	.	T	0.49949	0.1587	N	0.22421	0.69	0.09310	N	1	B;B;P	0.44946	0.232;0.343;0.846	B;B;P	0.45610	0.134;0.281;0.487	T	0.37126	-0.9719	9	0.62326	D	0.03	-2.0596	6.5728	0.22549	0.5498:0.0:0.4502:0.0	.	586;586;586	Q12830;Q12830-2;Q12830-4	BPTF_HUMAN;.;.	H	491;586;586;586;447	ENSP00000307208:D586H;ENSP00000334351:D586H;ENSP00000315454:D586H	ENSP00000307208:D586H	D	+	1	0	BPTF	63301490	0.044000	0.20184	0.005000	0.12908	0.631000	0.37964	0.233000	0.17911	0.233000	0.21120	0.591000	0.81541	GAC		0.373	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		4	48	0	0	0	1	0	4	48				
CDH22	64405	broad.mit.edu	37	20	44815233	44815233	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr20:44815233T>C	ENST00000372262.3	-	9	2057	c.1657A>G	c.(1657-1659)Atc>Gtc	p.I553V	CDH22_ENST00000537909.1_Missense_Mutation_p.I553V	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	553	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				TCACCTTGGATGTCAAGCAGA	0.592																																						uc002xrm.2																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44						c.(1657-1659)Atc>Gtc		Homo sapiens cadherin 22, type 2 (CDH22), mRNA.							86.0	82.0	84.0					20																	44815233		2203	4300	6503	SO:0001583	missense	64405				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:44815233T>C	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"""Cadherins / Major cadherins"""	13251	protein-coding gene	gene with protein product		609920	"""cadherin-like 22"""	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.1657A>G	20.37:g.44815233T>C	ENSP00000361336:p.Ile553Val		Somatic				CDH22_uc010ghk.1_Missense_Mutation_p.I553V	p.I553V	NM_021248	NP_067071	WXS	Illumina GAIIx	Phase_I	Q9UJ99	CAD22_HUMAN			8	2056	-		Myeloproliferative disorder(115;0.0122)	553			Cadherin 5.		B9EGK7|O43205	Missense_Mutation	SNP	ENST00000372262.3	37	c.1657A>G	CCDS13395.1	.	.	.	.	.	.	.	.	.	.	T	11.84	1.758834	0.31137	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.58506	0.33;0.33	4.42	4.42	0.53409	Cadherin (4);Cadherin-like (1);	0.143219	0.46145	N	0.000314	T	0.27731	0.0682	N	0.02158	-0.66	0.24435	N	0.994557	B	0.02656	0.0	B	0.06405	0.002	T	0.10965	-1.0607	10	0.44086	T	0.13	.	7.0009	0.24809	0.0:0.1855:0.0:0.8145	.	553	Q9UJ99	CAD22_HUMAN	V	553	ENSP00000361336:I553V;ENSP00000437790:I553V	ENSP00000361336:I553V	I	-	1	0	CDH22	44248640	0.898000	0.30612	1.000000	0.80357	0.972000	0.66771	0.652000	0.24888	1.628000	0.50416	0.368000	0.22195	ATC		0.592	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248		5	132	0	0	0	1	0	5	132				
SCN5A	6331	broad.mit.edu	37	3	38591931	38591931	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr3:38591931C>G	ENST00000333535.4	-	28	6081	c.5932G>C	c.(5932-5934)Gac>Cac	p.D1978H	SCN5A_ENST00000443581.1_Missense_Mutation_p.D1977H|SCN5A_ENST00000425664.1_Missense_Mutation_p.D1960H|SCN5A_ENST00000450102.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000449557.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000423572.2_Missense_Mutation_p.D1977H|SCN5A_ENST00000414099.2_Missense_Mutation_p.D1960H|SCN5A_ENST00000455624.2_Missense_Mutation_p.D1945H|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000451551.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000413689.1_Missense_Mutation_p.D1978H			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1978					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GTGACACTGTCATAGGAGGGT	0.602																																						uc021wvo.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(5932-5934)Gac>Cac		Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						42.0	47.0	45.0					3																	38591931		2022	4172	6194	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38591931C>G	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.5932G>C	3.37:g.38591931C>G	ENSP00000328968:p.Asp1978His		Somatic				SCN5A_uc021wvk.1_Missense_Mutation_p.D1945H|SCN5A_uc021wvl.1_Missense_Mutation_p.D1924H|SCN5A_uc021wvm.1_Missense_Mutation_p.D1960H|SCN5A_uc021wvn.1_Missense_Mutation_p.D1977H|SCN5A_uc021wvp.1_Missense_Mutation_p.D1978H|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Missense_Mutation_p.D1790H|SCN5A_uc021wvi.1_Missense_Mutation_p.D1844H	p.D1978H	NM_198056	NP_932173	WXS	Illumina GAIIx	Phase_I	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	26	5984	-	Medulloblastoma(35;0.163)		1978					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.5932G>C	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.565807	0.65651	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.96856	-4.02;-4.03;-4.03;-4.08;-4.03;-4.02;-4.03;-4.15;-4.08;-4.08	4.95	4.95	0.65309	.	0.058474	0.64402	D	0.000003	D	0.95529	0.8547	N	0.08118	0	0.54753	D	0.999986	D;D;P;D;D;D	0.89917	0.959;1.0;0.64;0.999;0.958;1.0	P;D;B;D;P;D	0.85130	0.496;0.997;0.387;0.973;0.693;0.996	D	0.97067	0.9775	10	0.62326	D	0.03	.	18.3714	0.90408	0.0:1.0:0.0:0.0	.	1924;1945;1960;1978;1977;1978	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	H	1960;1977;1978;1924;1977;1960;1978;1945;1924;1924	ENSP00000398962:D1960H;ENSP00000398266:D1977H;ENSP00000410257:D1978H;ENSP00000388797:D1924H;ENSP00000397915:D1977H;ENSP00000416634:D1960H;ENSP00000328968:D1978H;ENSP00000399524:D1945H;ENSP00000403355:D1924H;ENSP00000413996:D1924H	ENSP00000328968:D1978H	D	-	1	0	SCN5A	38566935	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	4.781000	0.62389	2.573000	0.86826	0.655000	0.94253	GAC		0.602	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		3	74	0	0	0	1	0	3	74				
DOCK2	1794	broad.mit.edu	37	5	169494626	169494626	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr5:169494626T>A	ENST00000256935.8	+	45	4660	c.4580T>A	c.(4579-4581)cTc>cAc	p.L1527H	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.L1019H|DOCK2_ENST00000540750.1_Missense_Mutation_p.L588H	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1527	DHR-2.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.L1527H(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCAACCCACTCTCCATGCTC	0.522																																						uc003maf.3																			1	Substitution - Missense(1)	p.L1527H(2)	kidney(1)	NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(4579-4581)cTc>cAc		Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.							178.0	163.0	168.0					5																	169494626		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding	g.chr5:169494626T>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4580T>A	5.37:g.169494626T>A	ENSP00000256935:p.Leu1527His		Somatic				DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Missense_Mutation_p.L1019H|DOCK2_uc003mah.3_Missense_Mutation_p.L83H	p.L1527H	NM_004946	NP_004937	WXS	Illumina GAIIx	Phase_I	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		44	4660	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1527			DHR-2.		Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.4580T>A	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.354110	0.82243	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.37411	1.2;1.2;1.2	4.83	4.83	0.62350	.	0.000000	0.64402	D	0.000001	T	0.69958	0.3169	H	0.94542	3.55	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.80004	-0.1564	10	0.87932	D	0	.	14.6914	0.69087	0.0:0.0:0.0:1.0	.	1019;83;1527	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	H	1527;1019;588	ENSP00000256935:L1527H;ENSP00000429283:L1019H;ENSP00000438827:L588H	ENSP00000256935:L1527H	L	+	2	0	DOCK2	169427204	1.000000	0.71417	0.151000	0.22473	0.863000	0.49368	7.993000	0.88291	1.933000	0.56026	0.460000	0.39030	CTC		0.522	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		4	127	0	0	0	1	0	4	127				
TBC1D2	55357	broad.mit.edu	37	9	101017574	101017574	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr9:101017574C>G	ENST00000375064.1	-	1	288	c.250G>C	c.(250-252)Gct>Cct	p.A84P	TBC1D2_ENST00000375066.5_Missense_Mutation_p.A84P|TBC1D2_ENST00000342112.5_5'UTR	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	84	Interaction with CADH1.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		GCATCCTGAGCGGTCCGCGAG	0.542																																						uc011lvb.2																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(250-252)Gct>Cct		Homo sapiens TBC1 domain family, member 2 (TBC1D2), mRNA.							81.0	82.0	82.0					9																	101017574		2203	4300	6503	SO:0001583	missense	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:101017574C>G	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"""prostate antigen recognized and identified by SEREX"""	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.250G>C	9.37:g.101017574C>G	ENSP00000364205:p.Ala84Pro		Somatic				TBC1D2_uc004ayq.3_Missense_Mutation_p.A84P|TBC1D2_uc004ayr.3_5'UTR	p.A84P	NM_018421	NP_060891	WXS	Illumina GAIIx	Phase_I	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	0	430	-		Myeloproliferative disorder(762;0.0255)	84			Interaction with CADH1.|PH.		B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	ENST00000375064.1	37	c.250G>C		.	.	.	.	.	.	.	.	.	.	C	12.67	2.006448	0.35415	.	.	ENSG00000095383	ENST00000375064;ENST00000375066	T;T	0.75154	-0.91;-0.91	5.53	5.53	0.82687	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.066669	0.64402	D	0.000017	T	0.53110	0.1776	N	0.02854	-0.475	0.80722	D	1	B;B	0.25521	0.078;0.128	B;B	0.30495	0.054;0.116	T	0.53563	-0.8421	10	0.20046	T	0.44	.	14.9553	0.71107	0.0:1.0:0.0:0.0	.	84;84	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	P	84	ENSP00000364205:A84P;ENSP00000364207:A84P	ENSP00000364205:A84P	A	-	1	0	TBC1D2	100057395	1.000000	0.71417	0.999000	0.59377	0.639000	0.38242	4.089000	0.57685	2.596000	0.87737	0.462000	0.41574	GCT		0.542	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421		7	97	0	0	0	1	0	7	97				
CD163	9332	broad.mit.edu	37	12	7640590	7640590	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr12:7640590G>A	ENST00000359156.4	-	7	1716	c.1514C>T	c.(1513-1515)tCg>tTg	p.S505L	CD163_ENST00000396620.3_Missense_Mutation_p.S505L|CD163_ENST00000539632.1_5'Flank|CD163_ENST00000432237.2_Missense_Mutation_p.S505L|CD163_ENST00000541972.1_Missense_Mutation_p.S493L	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	505	SRCR 5. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.S505*(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	AGAGAAGTCCGAATCACAGAT	0.537																																						uc001qsz.3																			1	Substitution - Nonsense(1)	p.S505*(2)	lung(1)	breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						c.(1513-1515)tCg>tTg		Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.							75.0	64.0	68.0					12																	7640590		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7640590G>A	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.1514C>T	12.37:g.7640590G>A	ENSP00000352071:p.Ser505Leu		Somatic				CD163_uc001qta.3_Missense_Mutation_p.S505L|CD163_uc009zfw.2_Missense_Mutation_p.S505L	p.S505L	NM_004244	NP_004235	WXS	Illumina GAIIx	Phase_I	Q86VB7	C163A_HUMAN			6	1642	-			505			SRCR 5.		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.1514C>T	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.739029	0.30774	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.33	3.39	0.38822	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.547984	0.19113	N	0.122394	T	0.31358	0.0794	L	0.45051	1.395	0.09310	N	1	D;P;D	0.59357	0.985;0.951;0.969	P;B;P	0.50270	0.636;0.396;0.553	T	0.07214	-1.0784	10	0.26408	T	0.33	.	9.4667	0.38817	0.0844:0.1453:0.7702:0.0	.	505;505;505	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	L	505;493;505;505	ENSP00000352071:S505L;ENSP00000444071:S493L;ENSP00000379863:S505L;ENSP00000403885:S505L	ENSP00000352071:S505L	S	-	2	0	CD163	7531857	0.003000	0.15002	0.966000	0.40874	0.932000	0.56968	1.496000	0.35638	1.388000	0.46506	0.655000	0.94253	TCG		0.537	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		3	80	0	0	0	1	0	3	80				
FLNA	2316	broad.mit.edu	37	X	153599581	153599581	+	Silent	SNP	G	G	A			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chrX:153599581G>A	ENST00000369850.3	-	2	269	c.33C>T	c.(31-33)agC>agT	p.S11S	FLNA_ENST00000360319.4_Silent_p.S11S|FLNA_ENST00000422373.1_Silent_p.S11S|FLNA_ENST00000344736.4_Silent_p.S11S	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	11	Actin-binding.				actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGCCTGCTGCGCTCTGGCCCG	0.701																																						uc004fkk.2																			0				breast(6)	6						c.(31-33)agC>agT		Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.							6.0	7.0	7.0					X																	153599581		1896	3924	5820	SO:0001819	synonymous_variant	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding	g.chrX:153599581G>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.33C>T	X.37:g.153599581G>A			Somatic				FLNA_uc010nuu.1_Silent_p.S11S	p.S11S	NM_001110556	NP_001104026	WXS	Illumina GAIIx	Phase_I	P21333	FLNA_HUMAN			1	282	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		11			Actin-binding.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	c.33C>T	CCDS48194.1																																																																																				0.701	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			4	2	0	0	0	1	0	4	2				
ITGAL	3683	broad.mit.edu	37	16	30507512	30507512	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr16:30507512G>A	ENST00000356798.6	+	14	1778	c.1598G>A	c.(1597-1599)gGc>gAc	p.G533D	ITGAL_ENST00000358164.5_Missense_Mutation_p.G450D|RP11-297C4.1_ENST00000563751.1_RNA|ITGAL_ENST00000568012.1_3'UTR|ITGAL_ENST00000433423.2_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	533					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	GACATCAACGGCGATGGGCTG	0.617																																					NSCLC(110;1462 1641 3311 33990 49495)	uc002dyi.4																			0		p.N532K(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(1597-1599)gGc>gAc		Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	Efalizumab(DB00095)						88.0	97.0	94.0					16																	30507512		2197	4300	6497	SO:0001583	missense	3683				T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30507512G>A		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.1598G>A	16.37:g.30507512G>A	ENSP00000349252:p.Gly533Asp		Somatic				ITGAL_uc002dyj.4_Missense_Mutation_p.G450D|ITGAL_uc010vev.2_Intron	p.G533D	NM_002209	NP_002200	WXS	Illumina GAIIx	Phase_I	P20701	ITAL_HUMAN			13	1774	+			533					O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	c.1598G>A	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.778854	0.70107	.	.	ENSG00000005844	ENST00000356798;ENST00000358164	D;D	0.86865	-2.18;-2.18	5.94	4.99	0.66335	.	0.102074	0.44097	D	0.000487	D	0.93403	0.7896	M	0.85299	2.745	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93887	0.7176	10	0.66056	D	0.02	.	12.1137	0.53854	0.0798:0.0:0.9202:0.0	.	450;533	Q96HB1;P20701	.;ITAL_HUMAN	D	533;450	ENSP00000349252:G533D;ENSP00000350886:G450D	ENSP00000349252:G533D	G	+	2	0	ITGAL	30415013	1.000000	0.71417	0.878000	0.34440	0.369000	0.29798	4.742000	0.62103	1.522000	0.49001	0.563000	0.77884	GGC		0.617	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			6	243	0	0	0	1	0	6	243				
LIPT1	51601	broad.mit.edu	37	2	99778836	99778836	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr2:99778836C>G	ENST00000393473.2	+	3	640	c.416C>G	c.(415-417)gCt>gGt	p.A139G	LIPT1_ENST00000340066.1_Missense_Mutation_p.A139G|LIPT1_ENST00000393471.2_Missense_Mutation_p.A139G|LIPT1_ENST00000393474.3_Missense_Mutation_p.A139G|LIPT1_ENST00000393477.3_Missense_Mutation_p.A139G|MRPL30_ENST00000410042.1_Intron	NM_001204830.1|NM_015929.3	NP_001191759.1|NP_057013.1	Q9Y234	LIPT_HUMAN	lipoyltransferase 1	139	BPL/LPL catalytic. {ECO:0000255|PROSITE- ProRule:PRU01067}.				cellular protein modification process (GO:0006464)|lipid metabolic process (GO:0006629)|protein lipoylation (GO:0009249)	mitochondrion (GO:0005739)	transferase activity, transferring acyl groups (GO:0016746)			large_intestine(6)|lung(1)	7					Lipoic Acid(DB00166)	GCTCTGAATGCTGTCCAACCC	0.383																																					GBM(84;665 1268 21657 25485 30647)	uc002szp.4																			0				large_intestine(6)|lung(1)	7						c.(538-540)gCt>gGt		Homo sapiens lipoyltransferase 1 (LIPT1), nuclear gene encoding mitochondrial protein, transcript variant 5, mRNA.	Lipoic Acid(DB00166)						71.0	67.0	68.0					2																	99778836		2203	4300	6503	SO:0001583	missense	51601				lipid metabolic process|protein lipoylation	mitochondrion	acyltransferase activity	g.chr2:99778836C>G	AB017566	CCDS2039.1	2q11.2	2010-11-25			ENSG00000144182	ENSG00000144182	2.3.1.181		29569	protein-coding gene	gene with protein product		610284				10103005	Standard	NM_145197		Approved	MGC12290, MGC13378	uc002szq.4	Q9Y234	OTTHUMG00000130640	ENST00000393473.2:c.416C>G	2.37:g.99778836C>G	ENSP00000377115:p.Ala139Gly		Somatic				MRPL30_uc002szl.1_Intron|LIPT1_uc002szm.4_Missense_Mutation_p.A139G|LIPT1_uc002szn.4_Missense_Mutation_p.A139G|LIPT1_uc002szo.4_Missense_Mutation_p.A139G|LIPT1_uc002szq.4_Missense_Mutation_p.A139G|MRPL30_uc002szr.3_Intron|LIPT1_uc021vln.1_Missense_Mutation_p.A139G|LIPT1_uc021vlo.1_Missense_Mutation_p.A139G|LIPT1_uc021vlp.1_Missense_Mutation_p.A139G	p.A180G	NM_145199	NP_660200	WXS	Illumina GAIIx	Phase_I	Q9Y234	LIPT_HUMAN			2	577	+			139					Q4ZFZ1	Missense_Mutation	SNP	ENST00000393473.2	37	c.539C>G	CCDS2039.1	.	.	.	.	.	.	.	.	.	.	C	9.625	1.134937	0.21123	.	.	ENSG00000144182	ENST00000393473;ENST00000393477;ENST00000393474;ENST00000340066;ENST00000393471;ENST00000434566	D;D;D;D;D;D	0.94931	-3.56;-3.56;-3.56;-3.56;-3.56;-3.56	5.07	5.07	0.68467	Biotin/lipoate A/B protein ligase (1);	0.315864	0.32473	N	0.006045	D	0.89476	0.6726	N	0.20328	0.56	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	D	0.84650	0.0700	10	0.26408	T	0.33	-12.0282	17.6112	0.88054	0.0:1.0:0.0:0.0	.	139	Q9Y234	LIPT_HUMAN	G	139	ENSP00000377115:A139G;ENSP00000377118:A139G;ENSP00000377116:A139G;ENSP00000342071:A139G;ENSP00000377114:A139G;ENSP00000393591:A139G	ENSP00000342071:A139G	A	+	2	0	LIPT1	99145268	0.016000	0.18221	0.830000	0.32933	0.998000	0.95712	1.516000	0.35856	2.635000	0.89317	0.650000	0.86243	GCT		0.383	LIPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253128.1	NM_015929		5	76	0	0	0	1	0	5	76				
TMEM225	338661	broad.mit.edu	37	11	123753862	123753862	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr11:123753862C>T	ENST00000375026.2	-	4	877	c.661G>A	c.(661-663)Gta>Ata	p.V221I		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	221					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						GCCCAGGTTACGTGACGTGTT	0.423																																						uc001pzi.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						c.(661-663)Gta>Ata		Homo sapiens transmembrane protein 225 (TMEM225), mRNA.							172.0	158.0	163.0					11																	123753862		2202	4299	6501	SO:0001583	missense	338661					integral to membrane		g.chr11:123753862C>T	AY634366	CCDS31697.1	11q24.1	2014-06-13			ENSG00000204300	ENSG00000204300			32390	protein-coding gene	gene with protein product	"""PMP22 claudin domain containing"", ""protein phosphatase 1, regulatory subunit 154"""						Standard	XM_006718832		Approved	PMP22CD, PPP1R154	uc001pzi.3	Q6GV28	OTTHUMG00000165959	ENST00000375026.2:c.661G>A	11.37:g.123753862C>T	ENSP00000364166:p.Val221Ile		Somatic					p.V221I	NM_001013743	NP_001013765	WXS	Illumina GAIIx	Phase_I	Q6GV28	TM225_HUMAN			3	869	-			221						Missense_Mutation	SNP	ENST00000375026.2	37	c.661G>A	CCDS31697.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.123100	0.56613	.	.	ENSG00000204300	ENST00000375026	T	0.35605	1.3	3.89	3.89	0.44902	.	0.000000	0.40908	D	0.000981	T	0.46210	0.1381	L	0.34521	1.04	0.22017	N	0.99942	D	0.89917	1.0	D	0.76575	0.988	T	0.21930	-1.0231	10	0.87932	D	0	-15.6406	11.6604	0.51343	0.0:1.0:0.0:0.0	.	221	Q6GV28	TM225_HUMAN	I	221	ENSP00000364166:V221I	ENSP00000364166:V221I	V	-	1	0	TMEM225	123259072	0.574000	0.26684	0.378000	0.26068	0.054000	0.15201	1.387000	0.34430	2.462000	0.83206	0.655000	0.94253	GTA		0.423	TMEM225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387260.1	NM_001013743		35	63	0	0	0	1	0	35	63				
IFT122	55764	broad.mit.edu	37	3	129207071	129207071	+	Intron	SNP	T	T	C			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr3:129207071T>C	ENST00000348417.2	+	16	1928				IFT122_ENST00000431818.2_Intron|IFT122_ENST00000349441.2_Intron|IFT122_ENST00000504021.1_Intron|IFT122_ENST00000507564.1_Intron|IFT122_ENST00000347300.2_Intron|IFT122_ENST00000296266.3_Intron|IFT122_ENST00000440957.2_Intron	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122						camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						AAAACAGTCTTCTTTTTTTCC	0.522																																						uc003ems.3																			0				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(19-21)tTc>tCc		Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 4, mRNA.							70.0	67.0	68.0					3																	129207071		2203	4300	6503	SO:0001627	intron_variant	55764				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		g.chr3:129207071T>C	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.1852-29T>C	3.37:g.129207071T>C			Somatic				IFT122_uc003eml.3_Intron|IFT122_uc003emm.3_Intron|IFT122_uc003emn.3_Intron|IFT122_uc003emo.3_Intron|IFT122_uc003emp.3_Intron|IFT122_uc010htc.3_Intron|IFT122_uc011bky.2_Intron|IFT122_uc011bla.2_Intron|IFT122_uc003emr.3_Intron|IFT122_uc010hte.3_Intron|IFT122_uc011bkx.1_Intron|IFT122_uc011bkz.1_Intron|IFT122_uc010htd.1_Intron	p.F7S	NM_052990	NP_443716	WXS	Illumina GAIIx	Phase_I	Q9HBG6	IF122_HUMAN			0	38	+			608		W -> C (in CED1).			B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	ENST00000348417.2	37	c.20T>C	CCDS3061.1																																																																																				0.522	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262		28	23	0	0	0	1	0	28	23				
DPP7	29952	broad.mit.edu	37	9	140006389	140006389	+	Silent	SNP	G	G	A			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr9:140006389G>A	ENST00000371579.2	-	10	1147	c.1143C>T	c.(1141-1143)taC>taT	p.Y381Y		NM_013379.2	NP_037511.2	Q9UHL4	DPP2_HUMAN	dipeptidyl-peptidase 7	381						cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		TGTCCAGGCAGTACCGCTGGC	0.657																																						uc004clh.3																			0				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						c.(1141-1143)taC>taT		Homo sapiens dipeptidyl-peptidase 7 (DPP7), mRNA.							66.0	76.0	72.0					9																	140006389		2203	4300	6503	SO:0001819	synonymous_variant	29952					cytoplasmic membrane-bounded vesicle|extracellular region|lysosome	aminopeptidase activity|protein binding|serine-type peptidase activity	g.chr9:140006389G>A	AF154502	CCDS7030.1	9q34.3	2008-02-05	2006-01-12		ENSG00000176978	ENSG00000176978			14892	protein-coding gene	gene with protein product		610537	"""dipeptidylpeptidase 7"""			10477574, 11139392	Standard	XM_005266075		Approved	DPPII	uc004clh.3	Q9UHL4	OTTHUMG00000020977	ENST00000371579.2:c.1143C>T	9.37:g.140006389G>A			Somatic					p.Y381Y	NM_013379	NP_037511	WXS	Illumina GAIIx	Phase_I	Q9UHL4	DPP2_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)	9	1173	-	all_cancers(76;0.0926)		381					A8K7U7|Q5VSF1|Q969X4	Silent	SNP	ENST00000371579.2	37	c.1143C>T	CCDS7030.1																																																																																				0.657	DPP7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055279.1	NM_013379		3	78	0	0	0	1	0	3	78				
ZMYM4	9202	broad.mit.edu	37	1	35870639	35870639	+	Missense_Mutation	SNP	A	A	G	rs201516168		TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr1:35870639A>G	ENST00000314607.6	+	24	3624	c.3544A>G	c.(3544-3546)Ata>Gta	p.I1182V	ZMYM4_ENST00000373297.2_Missense_Mutation_p.I1093V	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	1182					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GAAGAAGTCTATAGTGGCTGT	0.413																																						uc001byt.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54						c.(3544-3546)Ata>Gta		Homo sapiens zinc finger, MYM-type 4 (ZMYM4), mRNA.		A	VAL/ILE	0,4406		0,0,2203	64.0	75.0	71.0		3544	-4.4	0.8	1		71	1,8597	1.2+/-3.3	0,1,4298	yes	missense	ZMYM4	NM_005095.2	29	0,1,6501	GG,GA,AA		0.0116,0.0,0.0077	benign	1182/1549	35870639	1,13003	2203	4299	6502	SO:0001583	missense	9202				multicellular organismal development		DNA binding|zinc ion binding	g.chr1:35870639A>G	AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.3544A>G	1.37:g.35870639A>G	ENSP00000322915:p.Ile1182Val		Somatic				ZMYM4_uc009vuu.3_Missense_Mutation_p.I1150V|ZMYM4_uc001byu.3_Missense_Mutation_p.I858V|ZMYM4_uc009vuv.3_Missense_Mutation_p.I921V	p.I1182V	NM_005095	NP_005086	WXS	Illumina GAIIx	Phase_I	Q5VZL5	ZMYM4_HUMAN			23	3624	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	1182					A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Missense_Mutation	SNP	ENST00000314607.6	37	c.3544A>G	CCDS389.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	2.795|2.795	-0.250370|-0.250370	0.05867|0.05867	0.0|0.0	1.16E-4|1.16E-4	ENSG00000146463|ENSG00000146463	ENST00000314607;ENST00000373297|ENST00000457946	T;T|.	0.20881|.	2.06;2.04|.	5.95|5.95	-4.38|-4.38	0.03622|0.03622	.|.	0.640981|.	0.17170|.	N|.	0.184319|.	T|T	0.17323|0.17323	0.0416|0.0416	N|N	0.10874|0.10874	0.06|0.06	0.23769|0.23769	N|N	0.996891|0.996891	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.31166|0.31166	-0.9953|-0.9953	10|5	0.07644|.	T|.	0.81|.	-1.0674|-1.0674	10.2779|10.2779	0.43521|0.43521	0.4378:0.1001:0.4621:0.0|0.4378:0.1001:0.4621:0.0	.|.	1182|.	Q5VZL5|.	ZMYM4_HUMAN|.	V|C	1182;1093|840	ENSP00000322915:I1182V;ENSP00000362394:I1093V|.	ENSP00000322915:I1182V|.	I|Y	+|+	1|2	0|0	ZMYM4|ZMYM4	35643226|35643226	0.861000|0.861000	0.29849|0.29849	0.839000|0.839000	0.33178|0.33178	0.996000|0.996000	0.88848|0.88848	0.316000|0.316000	0.19469|0.19469	-1.133000|-1.133000	0.02903|0.02903	-0.274000|-0.274000	0.10170|0.10170	ATA|TAT		0.413	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095		7	112	0	0	0	1	0	7	112				
SLC24A3	57419	broad.mit.edu	37	20	19677526	19677526	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr20:19677526G>T	ENST00000328041.6	+	14	1774	c.1577G>T	c.(1576-1578)tGc>tTc	p.C526F	RP4-718D20.3_ENST00000609846.1_RNA|RP4-718D20.3_ENST00000598694.1_RNA|RP4-718D20.3_ENST00000593770.1_RNA|RP4-718D20.3_ENST00000608476.1_RNA|RP4-718D20.3_ENST00000609610.1_RNA|RP4-718D20.3_ENST00000435992.2_RNA|RP4-718D20.3_ENST00000600889.1_RNA	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	526					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GTGCCTGACTGCATGGCCAGC	0.597																																						uc002wrl.3																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1576-1578)tGc>tTc		Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.							89.0	73.0	79.0					20																	19677526		2203	4300	6503	SO:0001583	missense	57419					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr20:19677526G>T	AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"""Solute carriers"""	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.1577G>T	20.37:g.19677526G>T	ENSP00000333519:p.Cys526Phe		Somatic					p.C526F	NM_020689	NP_065740	WXS	Illumina GAIIx	Phase_I	Q9HC58	NCKX3_HUMAN			13	1774	+			526					B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Missense_Mutation	SNP	ENST00000328041.6	37	c.1577G>T	CCDS13140.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.666702	0.88251	.	.	ENSG00000185052	ENST00000328041	T	0.61859	0.07	5.7	5.7	0.88788	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	T	0.66886	0.2835	L	0.31207	0.915	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.63319	-0.6664	9	.	.	.	.	18.6103	0.91283	0.0:0.0:1.0:0.0	.	526	Q9HC58	NCKX3_HUMAN	F	526	ENSP00000333519:C526F	.	C	+	2	0	SLC24A3	19625526	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.830000	0.99415	2.695000	0.91970	0.561000	0.74099	TGC		0.597	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078207.4	NM_020689		5	126	0	0	0	1	0	5	126				
UBASH3B	84959	broad.mit.edu	37	11	122659906	122659906	+	Silent	SNP	C	C	T			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr11:122659906C>T	ENST00000284273.5	+	6	1245	c.870C>T	c.(868-870)agC>agT	p.S290S		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	290	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		AGCAGACCAGCACCAGCGAGG	0.532																																						uc001pyi.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26						c.(868-870)agC>agT		Homo sapiens ubiquitin associated and SH3 domain containing B (UBASH3B), mRNA.							182.0	177.0	179.0					11																	122659906		2202	4299	6501	SO:0001819	synonymous_variant	84959					cytoplasm|nucleus	protein tyrosine phosphatase activity	g.chr11:122659906C>T	AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"""SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"""	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.870C>T	11.37:g.122659906C>T			Somatic					p.S290S	NM_032873	NP_116262	WXS	Illumina GAIIx	Phase_I	Q8TF42	UBS3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)	5	1230	+		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)	290			SH3.		Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Silent	SNP	ENST00000284273.5	37	c.870C>T	CCDS31694.1																																																																																				0.532	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387499.1	NM_032873		6	437	0	0	0	1	0	6	437				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		31	45	0	0	0	1	0	31	45				
GPR78	27201	broad.mit.edu	37	4	8588779	8588779	+	Splice_Site	SNP	A	A	T			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr4:8588779A>T	ENST00000382487.4	+	3	1199		c.e3-1		GPR78_ENST00000509216.1_Splice_Site	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78						adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						CTTCCCCAACAGGCTGGCGGA	0.627																																						uc003glk.3																			0				central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						c.e3-2		Homo sapiens G protein-coupled receptor 78 (GPR78), transcript variant 1, mRNA.							28.0	30.0	29.0					4																	8588779		2200	4291	6491	SO:0001630	splice_region_variant	27201				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr4:8588779A>T	AF411107	CCDS3403.1	4p16.1	2012-08-21			ENSG00000155269	ENSG00000155269		"""GPCR / Class A : Orphans"""	4528	protein-coding gene	gene with protein product		606921				11574155	Standard	NM_080819		Approved		uc003glk.4	Q96P69	OTTHUMG00000128483	ENST00000382487.4:c.783-1A>T	4.37:g.8588779A>T			Somatic				GPR78_uc021xlj.1_Splice_Site|CPZ_uc003gll.3_Intron	p.R261_splice	NM_080819	NP_543009	WXS	Illumina GAIIx	Phase_I	Q96P69	GPR78_HUMAN			3	1276	+			261					Q8NGV3	Splice_Site	SNP	ENST00000382487.4	37	c.783_splice	CCDS3403.1	.	.	.	.	.	.	.	.	.	.	A	11.56	1.675786	0.29783	.	.	ENSG00000155269	ENST00000382487	.	.	.	3.32	2.12	0.27331	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.3914	0.26911	0.8911:0.0:0.1089:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GPR78	8639679	1.000000	0.71417	0.006000	0.13384	0.012000	0.07955	4.058000	0.57463	0.215000	0.20761	0.482000	0.46254	.		0.627	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359201.1		Intron	34	63	0	0	0	1	0	34	63				
TMEM255B	348013	broad.mit.edu	37	13	114469169	114469169	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr13:114469169G>A	ENST00000375353.3	+	2	155	c.128G>A	c.(127-129)gGg>gAg	p.G43E		NM_182614.2	NP_872420.1	Q8WV15	T255B_HUMAN	transmembrane protein 255B	43						integral component of membrane (GO:0016021)											GTCACCGTCGGGCTGGCTGCC	0.652																																						uc001vuh.3																			0				upper_aerodigestive_tract(1)	1						c.(127-129)gGg>gAg		Homo sapiens family with sequence similarity 70, member B (FAM70B), mRNA.							119.0	91.0	100.0					13																	114469169		2203	4300	6503	SO:0001583	missense	348013					integral to membrane		g.chr13:114469169G>A	BC018995	CCDS45071.1	13q34	2012-11-30	2012-11-30	2012-11-30	ENSG00000184497	ENSG00000184497			28297	protein-coding gene	gene with protein product			"""family with sequence similarity 70, member B"""	FAM70B		12477932	Standard	NM_182614		Approved	MGC20579	uc001vuh.3	Q8WV15	OTTHUMG00000017398	ENST00000375353.3:c.128G>A	13.37:g.114469169G>A	ENSP00000364502:p.Gly43Glu		Somatic				FAM70B_uc010tkh.2_Missense_Mutation_p.G43E	p.G43E	NM_182614	NP_872420	WXS	Illumina GAIIx	Phase_I	Q8WV15	FA70B_HUMAN	all cancers(43;0.181)		1	155	+	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	43						Missense_Mutation	SNP	ENST00000375353.3	37	c.128G>A	CCDS45071.1	.	.	.	.	.	.	.	.	.	.	g	16.98	3.271278	0.59649	.	.	ENSG00000184497	ENST00000375353	T	0.63913	-0.07	4.42	4.42	0.53409	.	.	.	.	.	T	0.80454	0.4626	M	0.83118	2.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84433	0.0578	9	0.87932	D	0	-18.8846	15.8064	0.78517	0.0:0.0:1.0:0.0	.	43;43	B4DIK8;Q8WV15	.;FA70B_HUMAN	E	43	ENSP00000364502:G43E	ENSP00000364502:G43E	G	+	2	0	FAM70B	113644774	1.000000	0.71417	0.945000	0.38365	0.058000	0.15608	8.119000	0.89579	2.008000	0.58898	0.313000	0.20887	GGG		0.652	TMEM255B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045953.4	NM_182614		68	85	0	0	0	1	0	68	85				
WDR7	23335	broad.mit.edu	37	18	54362346	54362346	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr18:54362346G>A	ENST00000254442.3	+	11	1485	c.1274G>A	c.(1273-1275)cGt>cAt	p.R425H	WDR7_ENST00000357574.3_Missense_Mutation_p.R425H|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	425					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GTTTGTGGTCGTGAAGATGGA	0.448																																						uc002lgk.1																			0				NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78						c.(1273-1275)cGt>cAt		Homo sapiens WD repeat domain 7 (WDR7), transcript variant 1, mRNA.							131.0	115.0	121.0					18																	54362346		2203	4300	6503	SO:0001583	missense	23335							g.chr18:54362346G>A	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.1274G>A	18.37:g.54362346G>A	ENSP00000254442:p.Arg425His		Somatic				WDR7_uc010dpk.1_Non-coding_Transcript|WDR7_uc002lgl.1_Missense_Mutation_p.R425H	p.R425H	NM_015285	NP_056100	WXS	Illumina GAIIx	Phase_I	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	10	1485	+			425					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	c.1274G>A	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	G	34	5.310149	0.95629	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	D;D	0.94280	-3.39;-3.39	5.38	5.38	0.77491	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	D	0.95950	0.8681	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.967;0.991	D	0.93562	0.6896	10	0.13470	T	0.59	.	19.0834	0.93192	0.0:0.0:1.0:0.0	.	425;425	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	H	425	ENSP00000254442:R425H;ENSP00000350187:R425H	ENSP00000254442:R425H	R	+	2	0	WDR7	52513344	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.473000	0.97714	2.680000	0.91292	0.585000	0.79938	CGT		0.448	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			3	104	0	0	0	1	0	3	104				
C1QA	712	broad.mit.edu	37	1	22965567	22965567	+	Silent	SNP	G	G	C	rs569999510		TCGA-EL-A3T3-01A-11D-A22D-08	TCGA-EL-A3T3-11A-11D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29bd75e4-6e49-4190-ba27-42fbb7224820	6c9c7ebe-6dc7-4ed6-b704-a37199ee44e6	g.chr1:22965567G>C	ENST00000374642.3	+	3	609	c.405G>C	c.(403-405)acG>acC	p.T135T	C1QA_ENST00000402322.1_Silent_p.T135T	NM_015991.2	NP_057075.1	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	135	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				cell-cell signaling (GO:0007267)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TCTTCGACACGGTCATCACCA	0.602																																						uc001bfy.3																			0				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6						c.(403-405)acG>acC		Homo sapiens complement component 1, q subcomponent, A chain (C1QA), mRNA.	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						69.0	62.0	65.0					1																	22965567		2203	4300	6503	SO:0001819	synonymous_variant	712				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex		g.chr1:22965567G>C	AF135157	CCDS226.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173372	ENSG00000173372		"""Complement system"""	1241	protein-coding gene	gene with protein product		120550	"""complement component 1, q subcomponent, alpha polypeptide"""			1537612	Standard	NM_015991		Approved		uc001bfy.3	P02745	OTTHUMG00000002893	ENST00000374642.3:c.405G>C	1.37:g.22965567G>C			Somatic					p.T135T	NM_015991	NP_057075	WXS	Illumina GAIIx	Phase_I	P02745	C1QA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	2	490	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	135			C1q.		B2R4X2|Q5T963	Silent	SNP	ENST00000374642.3	37	c.405G>C	CCDS226.1	.	.	.	.	.	.	.	.	.	.	G	5.250	0.231602	0.09969	.	.	ENSG00000173372	ENST00000339353	.	.	.	5.48	-0.308	0.12773	.	0.457491	0.16055	N	0.231745	T	0.22975	0.0555	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.18429	-1.0337	6	0.26408	T	0.33	0.0124	5.057	0.14539	0.1461:0.2599:0.4957:0.0982	.	.	.	.	P	130	.	ENSP00000341271:R130P	R	+	2	0	C1QA	22838154	0.002000	0.14202	0.644000	0.29465	0.680000	0.39746	-0.022000	0.12480	0.030000	0.15379	-0.226000	0.12346	CGG		0.602	C1QA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008087.2	NM_015991		3	67	0	0	0	1	0	3	67				
