#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SLC40A1	30061	broad.mit.edu	37	2	190439928	190439928	+	Missense_Mutation	SNP	G	G	C	rs28939076		TCGA-DJ-A3VB-01A-11D-A23M-08	TCGA-DJ-A3VB-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8ed773-385b-403c-84c7-b844e09dc4c1	0332cc08-f29e-466a-a43f-a653c565ab06	g.chr2:190439928G>C	ENST00000261024.2	-	3	656	c.230C>G	c.(229-231)gCc>gGc	p.A77G	SLC40A1_ENST00000418714.1_5'UTR	NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	77			A -> D (in HFE4). {ECO:0000269|PubMed:10747949, ECO:0000269|PubMed:11518736}.		anatomical structure morphogenesis (GO:0009653)|cellular iron ion homeostasis (GO:0006879)|endothelium development (GO:0003158)|iron ion transmembrane transport (GO:0034755)|lymphocyte homeostasis (GO:0002260)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of apoptotic process (GO:0043066)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|spleen trabecula formation (GO:0060345)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	iron ion transmembrane transporter activity (GO:0005381)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			ACCGATGATGGCTCCCAGGAC	0.493																																						ENST00000261024.2																			0				endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	GRCh37	CM014599	SLC40A1	M	rs28939076	c.(229-231)gCc>gGc		solute carrier family 40 (iron-regulated transporter), member 1							219.0	221.0	220.0					2																	190439928		2203	4300	6503	SO:0001583	missense	30061				anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding	g.chr2:190439928G>C	AF215636	CCDS2299.1	2q32	2014-09-17	2003-06-04	2003-06-05	ENSG00000138449	ENSG00000138449		"""Solute carriers"""	10909	protein-coding gene	gene with protein product	"""ferroportin 1"""	604653	"""solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3"""	SLC11A3		10828623	Standard	NM_014585		Approved	MTP1, IREG1, FPN1, HFE4	uc002uqp.4	Q9NP59	OTTHUMG00000132662	ENST00000261024.2:c.230C>G	2.37:g.190439928G>C	ENSP00000261024:p.Ala77Gly					SLC40A1_ENST00000418714.1_5'UTR	p.A77G	NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)		3	656	-			77		A -> D (in HFE4).			Q6FI62|Q7Z4F8|Q8IVB2|Q9NRL0	Missense_Mutation	SNP	ENST00000261024.2	37	c.230C>G	CCDS2299.1	.	.	.	.	.	.	.	.	.	.	G	32	5.113391	0.94339	.	.	ENSG00000138449	ENST00000261024;ENST00000427241	T;T	0.81078	-1.44;-1.45	4.85	4.85	0.62838	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.88288	0.6396	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.74023	0.965;0.982	D	0.86484	0.1793	10	0.34782	T	0.22	-18.9738	18.5253	0.90969	0.0:0.0:1.0:0.0	.	77;77	A8K7Y1;Q9NP59	.;S40A1_HUMAN	G	77	ENSP00000261024:A77G;ENSP00000390005:A77G	ENSP00000261024:A77G	A	-	2	0	SLC40A1	190148173	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.601000	0.98297	2.691000	0.91804	0.650000	0.86243	GCC		0.493	SLC40A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255916.2			154	304	0	0	0	1	0	154	304				
CCDC60	160777	broad.mit.edu	37	12	119916995	119916995	+	Silent	SNP	C	C	T			TCGA-DJ-A3VB-01A-11D-A23M-08	TCGA-DJ-A3VB-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8ed773-385b-403c-84c7-b844e09dc4c1	0332cc08-f29e-466a-a43f-a653c565ab06	g.chr12:119916995C>T	ENST00000327554.2	+	4	903	c.438C>T	c.(436-438)acC>acT	p.T146T	RP11-768F21.1_ENST00000509470.2_lincRNA|CCDC60_ENST00000546345.1_3'UTR	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	146										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CCTCGCTAACCGAGGCTCACG	0.478																																						ENST00000327554.2																			0				endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(436-438)acC>acT		coiled-coil domain containing 60							185.0	144.0	158.0					12																	119916995		2203	4300	6503	SO:0001819	synonymous_variant	160777							g.chr12:119916995C>T	BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.438C>T	12.37:g.119916995C>T						CCDC60_ENST00000546345.1_3'UTR|RP11-768F21.1_ENST00000509470.2_lincRNA	p.T146T	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.207)	4	903	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		146						Silent	SNP	ENST00000327554.2	37	c.438C>T	CCDS9190.1																																																																																				0.478	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	NM_178499		32	43	0	0	0	1	0	32	43				
CROCC	9696	broad.mit.edu	37	1	17272075	17272075	+	Missense_Mutation	SNP	G	G	A	rs2781608		TCGA-DJ-A3VB-01A-11D-A23M-08	TCGA-DJ-A3VB-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8ed773-385b-403c-84c7-b844e09dc4c1	0332cc08-f29e-466a-a43f-a653c565ab06	g.chr1:17272075G>A	ENST00000375541.5	+	15	2179	c.2110G>A	c.(2110-2112)Gcc>Acc	p.A704T	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin									p.A704T(11)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GGCCGAGAAGGCCGAGGTGGC	0.657																																						ENST00000375541.5																			11	Substitution - Missense(11)	p.A704T(11)	kidney(7)|endometrium(1)|prostate(1)|lung(1)|central_nervous_system(1)	breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62						c.(2110-2112)Gcc>Acc		ciliary rootlet coiled-coil, rootletin							20.0	18.0	19.0					1																	17272075		2199	4291	6490	SO:0001583	missense	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17272075G>A	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.2110G>A	1.37:g.17272075G>A	ENSP00000364691:p.Ala704Thr					CROCC_ENST00000467938.1_3'UTR	p.A704T	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	15	2179	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	704						Missense_Mutation	SNP	ENST00000375541.5	37	c.2110G>A	CCDS30616.1	202	0.0924908424908425	54	0.10975609756097561	27	0.07458563535911603	41	0.07167832167832168	80	0.10554089709762533	g	7.919	0.738064	0.15574	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.10668	2.85	5.01	4.1	0.47936	.	.	.	.	.	T	0.00300	0.0009	L	0.47716	1.5	0.30387	N	0.781339	D;P;P	0.57899	0.981;0.952;0.873	P;P;B	0.52554	0.702;0.579;0.439	T	0.02477	-1.1153	9	0.16420	T	0.52	.	13.1749	0.59621	0.0795:0.0:0.9205:0.0	rs2781608;rs3871256;rs3872330	567;7;704	A1L0S8;Q5TZA2-2;Q5TZA2	.;.;CROCC_HUMAN	T	704;585	ENSP00000364691:A704T	ENSP00000364691:A704T	A	+	1	0	CROCC	17144662	0.999000	0.42202	0.970000	0.41538	0.013000	0.08279	2.720000	0.47252	1.448000	0.47680	-0.215000	0.12644	GCC		0.657	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		5	42	0	0	0	1	0	5	42				
MGAM	8972	broad.mit.edu	37	7	141796143	141796143	+	Silent	SNP	C	C	T			TCGA-DJ-A3VB-01A-11D-A23M-08	TCGA-DJ-A3VB-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8ed773-385b-403c-84c7-b844e09dc4c1	0332cc08-f29e-466a-a43f-a653c565ab06	g.chr7:141796143C>T	ENST00000549489.2	+	42	5027	c.4932C>T	c.(4930-4932)gaC>gaT	p.D1644D	MGAM_ENST00000475668.2_Silent_p.D2540D	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1644	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTGTGTCAGACCAGGTGACAT	0.572																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(7618-7620)gaC>gaT		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						48.0	41.0	43.0					7																	141796143		1821	4061	5882	SO:0001819	synonymous_variant	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141796143C>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4932C>T	7.37:g.141796143C>T						MGAM_ENST00000549489.2_Silent_p.D1644D	p.D2540D			O43451	MGA_HUMAN			65	7674	+	Melanoma(164;0.0272)		1644					Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000549489.2	37	c.7620C>T	CCDS47727.1																																																																																				0.572	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			10	65	0	0	0	1	0	10	65				
TRMT1L	81627	broad.mit.edu	37	1	185119602	185119602	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A3VB-01A-11D-A23M-08	TCGA-DJ-A3VB-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8ed773-385b-403c-84c7-b844e09dc4c1	0332cc08-f29e-466a-a43f-a653c565ab06	g.chr1:185119602C>A	ENST00000367506.5	-	3	637	c.369G>T	c.(367-369)ttG>ttT	p.L123F	TRMT1L_ENST00000367504.3_5'UTR	NM_001202423.1|NM_030934.4	NP_001189352.1|NP_112196.3	Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	123					adult locomotory behavior (GO:0008344)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						CCTTAGGGCACAATGGACAAG	0.353																																						ENST00000367506.5																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						c.(367-369)ttG>ttT		tRNA methyltransferase 1 homolog (S. cerevisiae)-like							49.0	51.0	50.0					1																	185119602		2203	4300	6503	SO:0001583	missense	81627					intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding	g.chr1:185119602C>A	AF288399	CCDS1366.1	1q25.2	2012-06-29	2012-06-29	2011-01-24	ENSG00000121486	ENSG00000121486			16782	protein-coding gene	gene with protein product	"""TRM1-like"""	611673	"""chromosome 1 open reading frame 25"", ""TRM1 tRNA methyltransferase 1-like"""	C1orf25		11318611, 17198746	Standard	NM_030934		Approved		uc001grf.4	Q7Z2T5	OTTHUMG00000035389	ENST00000367506.5:c.369G>T	1.37:g.185119602C>A	ENSP00000356476:p.Leu123Phe					TRMT1L_ENST00000367504.3_5'UTR	p.L123F	NM_001202423.1|NM_030934.4	NP_001189352.1|NP_112196.3	Q7Z2T5	TRM1L_HUMAN			3	637	-			123					Q5TEN0|Q6ZMX0|Q8IWH5|Q8NC68|Q9BZQ1	Missense_Mutation	SNP	ENST00000367506.5	37	c.369G>T	CCDS1366.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.795092	0.70452	.	.	ENSG00000121486	ENST00000367506	.	.	.	5.37	-0.723	0.11181	Zinc finger, C2H2-like (1);	0.000000	0.64402	D	0.000001	T	0.61763	0.2373	L	0.47716	1.5	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.60214	-0.7307	9	0.87932	D	0	-8.2295	5.5328	0.16995	0.13:0.4546:0.0:0.4154	.	123	Q7Z2T5	TRM1L_HUMAN	F	123	.	ENSP00000356476:L123F	L	-	3	2	TRMT1L	183386225	0.998000	0.40836	0.998000	0.56505	0.981000	0.71138	0.577000	0.23758	0.182000	0.20032	0.563000	0.77884	TTG		0.353	TRMT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085787.1	NM_030934		6	24	1	0	0.248553	1	0.25447	6	24				
MYCBP2	23077	broad.mit.edu	37	13	77763175	77763175	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A3VB-01A-11D-A23M-08	TCGA-DJ-A3VB-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8ed773-385b-403c-84c7-b844e09dc4c1	0332cc08-f29e-466a-a43f-a653c565ab06	g.chr13:77763175T>C	ENST00000544440.2	-	30	4065	c.4048A>G	c.(4048-4050)Acc>Gcc	p.T1350A	MYCBP2_ENST00000357337.6_Missense_Mutation_p.T1350A|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Missense_Mutation_p.T1388A					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CCATCACTGGTTGGAAGTCTA	0.343																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(4162-4164)Acc>Gcc		MYC binding protein 2, E3 ubiquitin protein ligase							99.0	95.0	96.0					13																	77763175		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77763175T>C	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.4048A>G	13.37:g.77763175T>C	ENSP00000444596:p.Thr1350Ala					MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.T1350A|MYCBP2_ENST00000357337.6_Missense_Mutation_p.T1350A	p.T1388A	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	30	4428	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	1350						Missense_Mutation	SNP	ENST00000544440.2	37	c.4162A>G		.	.	.	.	.	.	.	.	.	.	T	15.52	2.857417	0.51376	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.29397	1.57;1.57;1.57	5.96	5.96	0.96718	.	0.064498	0.64402	D	0.000004	T	0.24122	0.0584	N	0.19112	0.55	0.45464	D	0.998434	B	0.16802	0.019	B	0.21360	0.034	T	0.02942	-1.1091	10	0.40728	T	0.16	.	16.4484	0.83959	0.0:0.0:0.0:1.0	.	1350	O75592	MYCB2_HUMAN	A	1350;1388;1350	ENSP00000349892:T1350A;ENSP00000384288:T1388A;ENSP00000444596:T1350A	ENSP00000349892:T1350A	T	-	1	0	MYCBP2	76661176	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.301000	0.72782	2.285000	0.76669	0.533000	0.62120	ACC		0.343	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		29	42	0	0	0	1	0	29	42				
LRPAP1	4043	broad.mit.edu	37	4	3516526	3516526	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3VB-01A-11D-A23M-08	TCGA-DJ-A3VB-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8ed773-385b-403c-84c7-b844e09dc4c1	0332cc08-f29e-466a-a43f-a653c565ab06	g.chr4:3516526C>T	ENST00000500728.2	-	7	1110	c.964G>A	c.(964-966)Gag>Aag	p.E322K	LRPAP1_ENST00000296325.5_5'UTR	NM_002337.3	NP_002328.1	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein associated protein 1	322	LDL receptor binding. {ECO:0000255}.				extracellular negative regulation of signal transduction (GO:1900116)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of protein binding (GO:0032091)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|protein folding (GO:0006457)|receptor-mediated endocytosis (GO:0006898)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum lumen (GO:0048237)|vesicle (GO:0031982)	asialoglycoprotein receptor activity (GO:0004873)|heparin binding (GO:0008201)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|unfolded protein binding (GO:0051082)|very-low-density lipoprotein particle receptor binding (GO:0070326)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		GCGTGCTTCTCGCGGCTGCGG	0.662																																						ENST00000500728.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14						c.(964-966)Gag>Aag		low density lipoprotein receptor-related protein associated protein 1							66.0	61.0	63.0					4																	3516526		2203	4298	6501	SO:0001583	missense	4043				negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding	g.chr4:3516526C>T		CCDS3371.1	4p16.3	2008-05-02	2003-03-17		ENSG00000163956	ENSG00000163956			6701	protein-coding gene	gene with protein product		104225	"""low density lipoprotein-related protein-associated protein 1 (alpha-2-macroglobulin receptor-associated protein 1)"""	A2MRAP		1712782	Standard	NM_002337		Approved	HBP44	uc003ghh.4	P30533	OTTHUMG00000090299	ENST00000500728.2:c.964G>A	4.37:g.3516526C>T	ENSP00000421922:p.Glu322Lys					LRPAP1_ENST00000296325.5_5'UTR	p.E322K	NM_002337.3	NP_002328.1	P30533	AMRP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.165)	7	1110	-			322			LDL receptor binding (Potential).		D3DVR9|Q2M310|Q53HQ3|Q53HS6	Missense_Mutation	SNP	ENST00000500728.2	37	c.964G>A	CCDS3371.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.037296	0.75617	.	.	ENSG00000163956	ENST00000500728	T	0.49139	0.79	4.21	4.21	0.49690	Alpha-2-macroglobulin receptor-associated protein, domain 1 (1);Alpha-2-macroglobulin RAP, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.64338	0.2589	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	T	0.68066	-0.5507	10	0.66056	D	0.02	-40.2195	14.1433	0.65334	0.0:1.0:0.0:0.0	.	322	P30533	AMRP_HUMAN	K	322	ENSP00000421922:E322K	ENSP00000421922:E322K	E	-	1	0	LRPAP1	3486324	1.000000	0.71417	0.048000	0.18961	0.115000	0.19883	4.827000	0.62723	2.192000	0.70111	0.561000	0.74099	GAG		0.662	LRPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206659.4			42	87	0	0	0	1	0	42	87				
KRTAP10-2	386679	broad.mit.edu	37	21	45971249	45971249	+	Silent	SNP	G	G	A			TCGA-DJ-A3VB-01A-11D-A23M-08	TCGA-DJ-A3VB-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8ed773-385b-403c-84c7-b844e09dc4c1	0332cc08-f29e-466a-a43f-a653c565ab06	g.chr21:45971249G>A	ENST00000391621.1	-	1	139	c.93C>T	c.(91-93)tgC>tgT	p.C31C	TSPEAR_ENST00000323084.4_Intron|KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	31	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(4)|skin(1)	6						TGGGGGTGCCGCAGGGGAGCT	0.687																																						ENST00000391621.1																			0				large_intestine(1)|lung(4)|skin(1)	6						c.(91-93)tgC>tgT		keratin associated protein 10-2							50.0	56.0	54.0					21																	45971249		2203	4300	6503	SO:0001819	synonymous_variant	386679					keratin filament		g.chr21:45971249G>A	AJ566381	CCDS42955.1	21q22.3	2007-10-05			ENSG00000205445	ENSG00000205445		"""Keratin associated proteins"""	22967	protein-coding gene	gene with protein product				KRTAP18-2			Standard	NM_198693		Approved	KAP10.2, KAP18.2	uc002zfi.1	P60368	OTTHUMG00000057625	ENST00000391621.1:c.93C>T	21.37:g.45971249G>A						TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron|KRTAP10-2_ENST00000498210.1_Intron	p.C31C	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN			1	139	-			31			22 X 5 AA repeats of C-C-X(3).		Q70LJ5	Silent	SNP	ENST00000391621.1	37	c.93C>T	CCDS42955.1																																																																																				0.687	KRTAP10-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128027.1			7	147	0	0	0	1	0	7	147				
PCBP1	5093	broad.mit.edu	37	2	70315174	70315174	+	Missense_Mutation	SNP	T	T	A			TCGA-DJ-A3VB-01A-11D-A23M-08	TCGA-DJ-A3VB-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8ed773-385b-403c-84c7-b844e09dc4c1	0332cc08-f29e-466a-a43f-a653c565ab06	g.chr2:70315174T>A	ENST00000303577.5	+	1	590	c.299T>A	c.(298-300)cTg>cAg	p.L100Q	PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000415742.1_RNA|PCBP1-AS1_ENST00000452431.1_RNA|PCBP1-AS1_ENST00000432604.1_RNA|PCBP1-AS1_ENST00000596028.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000439892.1_RNA|PCBP1-AS1_ENST00000425333.1_RNA|PCBP1-AS1_ENST00000366234.3_RNA|PCBP1-AS1_ENST00000421255.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000416068.1_RNA|PCBP1-AS1_ENST00000415060.2_RNA|PCBP1-AS1_ENST00000437456.1_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000437019.1_RNA|PCBP1-AS1_ENST00000413791.1_RNA|PCBP1-AS1_ENST00000422515.1_RNA|PCBP1-AS1_ENST00000421843.1_RNA|PCBP1-AS1_ENST00000442040.1_RNA|PCBP1-AS1_ENST00000420309.1_RNA|PCBP1-AS1_ENST00000594548.1_RNA|PCBP1-AS1_ENST00000458698.2_RNA|PCBP1-AS1_ENST00000596573.1_RNA|PCBP1-AS1_ENST00000413069.1_RNA|PCBP1-AS1_ENST00000411429.1_RNA|PCBP1-AS1_ENST00000610168.1_RNA|PCBP1-AS1_ENST00000457770.1_RNA|PCBP1-AS1_ENST00000425601.1_RNA|PCBP1-AS1_ENST00000595459.1_RNA|PCBP1-AS1_ENST00000599673.1_RNA|AC016700.2_ENST00000455541.1_lincRNA|PCBP1-AS1_ENST00000429599.2_RNA|PCBP1-AS1_ENST00000609075.1_RNA|PCBP1-AS1_ENST00000415222.1_RNA|PCBP1-AS1_ENST00000439670.2_RNA|PCBP1-AS1_ENST00000418308.1_RNA|PCBP1-AS1_ENST00000444320.1_RNA|PCBP1-AS1_ENST00000601396.1_RNA|PCBP1-AS1_ENST00000449178.1_RNA|PCBP1-AS1_ENST00000458686.1_RNA|PCBP1-AS1_ENST00000419963.1_RNA|PCBP1-AS1_ENST00000456161.1_RNA|PCBP1-AS1_ENST00000444410.1_RNA|PCBP1-AS1_ENST00000423402.1_RNA|PCBP1-AS1_ENST00000434781.1_RNA|PCBP1-AS1_ENST00000596665.1_RNA|PCBP1-AS1_ENST00000416395.1_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	100	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.L100P(1)|p.L100Q(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						CCGGTCACCCTGAGGCTGGTG	0.602																																					Colon(85;1146 1307 3484 18706 25380)	ENST00000303577.5																			2	Substitution - Missense(2)	p.L100P(1)|p.L100Q(1)	large_intestine(2)	endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						c.(298-300)cTg>cAg		poly(rC) binding protein 1							59.0	73.0	68.0					2																	70315174		2201	4300	6501	SO:0001583	missense	5093				nuclear mRNA splicing, via spliceosome	cytoplasm|nucleoplasm|ribonucleoprotein complex	protein binding|RNA binding|single-stranded DNA binding	g.chr2:70315174T>A		CCDS1898.1	2p13-p12	2013-07-16	2001-11-28		ENSG00000169564	ENSG00000169564			8647	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein E1"""	601209	"""poly(rC)-binding protein 1"""			8833161	Standard	NM_006196		Approved	HNRPE1, hnRNP-E1, HNRPX, hnRNP-X	uc002sgf.3	Q15365	OTTHUMG00000129645	ENST00000303577.5:c.299T>A	2.37:g.70315174T>A	ENSP00000305556:p.Leu100Gln					PCBP1-AS1_ENST00000452431.1_RNA|PCBP1-AS1_ENST00000596028.1_RNA	p.L100Q	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN			1	590	+			100			KH 2.		Q13157|Q14975	Missense_Mutation	SNP	ENST00000303577.5	37	c.299T>A	CCDS1898.1	.	.	.	.	.	.	.	.	.	.	T	18.11	3.551119	0.65311	.	.	ENSG00000169564	ENST00000303577	T	0.30714	1.52	4.16	4.16	0.48862	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.168590	0.40469	U	0.001094	T	0.60573	0.2279	M	0.91459	3.21	0.54753	D	0.999986	D	0.71674	0.998	D	0.70487	0.969	T	0.69781	-0.5052	10	0.87932	D	0	.	11.8577	0.52449	0.0:0.0:0.0:1.0	.	100	Q15365	PCBP1_HUMAN	Q	100	ENSP00000305556:L100Q	ENSP00000305556:L100Q	L	+	2	0	PCBP1	70168678	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	5.884000	0.69729	2.120000	0.65058	0.477000	0.44152	CTG		0.602	PCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251844.1	NM_006196		12	276	0	0	0	1	0	12	276				
WASH2P	375260	broad.mit.edu	37	2	114355097	114355097	+	RNA	SNP	C	C	T			TCGA-DJ-A3VB-01A-11D-A23M-08	TCGA-DJ-A3VB-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8ed773-385b-403c-84c7-b844e09dc4c1	0332cc08-f29e-466a-a43f-a653c565ab06	g.chr2:114355097C>T	ENST00000538033.2	+	0	2036							Q6VEQ5	WASH2_HUMAN	WAS protein family homolog 2 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										TCGACCCCTCCGGTGGCCGGG	0.647																																						ENST00000538033.2																			0																																																			0							g.chr2:114355097C>T			2q13	2010-07-08	2008-01-16	2008-01-16	ENSG00000146556	ENSG00000146556		"""WAS protein homologs"""	33145	pseudogene	pseudogene			"""family with sequence similarity 39, member B"""	FAM39B		18159949	Standard	NR_024077		Approved	MGC52000	uc002tkh.3	Q6VEQ5	OTTHUMG00000047822		2.37:g.114355097C>T														0	2036	+									RNA	SNP	ENST00000538033.2	37																																																																																						0.647	WASH2P-002	KNOWN	mRNA_end_NF|basic	retained_intron	pseudogene	OTTHUMT00000467782.1	NM_198943		7	15	0	0	0	1	0	7	15				
MCM4	4173	broad.mit.edu	37	8	48883923	48883923	+	Missense_Mutation	SNP	A	A	T			TCGA-DJ-A3VB-01A-11D-A23M-08	TCGA-DJ-A3VB-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8ed773-385b-403c-84c7-b844e09dc4c1	0332cc08-f29e-466a-a43f-a653c565ab06	g.chr8:48883923A>T	ENST00000262105.2	+	12	2032	c.1823A>T	c.(1822-1824)aAt>aTt	p.N608I	MCM4_ENST00000523944.1_Missense_Mutation_p.N608I	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	608	MCM.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				TGTCAGCTCAATGCGCGCACC	0.498																																						ENST00000262105.2																			0				biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44						c.(1822-1824)aAt>aTt		minichromosome maintenance complex component 4							98.0	92.0	94.0					8																	48883923		2203	4300	6503	SO:0001583	missense	4173				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr8:48883923A>T		CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"""MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"""	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.1823A>T	8.37:g.48883923A>T	ENSP00000262105:p.Asn608Ile					MCM4_ENST00000523944.1_Missense_Mutation_p.N608I	p.N608I	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN			12	2032	+		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)	608			MCM.		Q8NEH1|Q99658	Missense_Mutation	SNP	ENST00000262105.2	37	c.1823A>T	CCDS6143.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.156830	0.78114	.	.	ENSG00000104738	ENST00000523944;ENST00000262105;ENST00000396826;ENST00000429229	T;T	0.08634	3.07;3.07	6.17	5.02	0.67125	ATPase, AAA+ type, core (1);	0.123647	0.85682	D	0.000000	T	0.46870	0.1415	H	0.99182	4.46	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.76071	0.987;0.987	T	0.67102	-0.5755	10	0.87932	D	0	-36.8898	12.3678	0.55238	0.9348:0.0:0.0652:0.0	.	608;608	B3KMX0;P33991	.;MCM4_HUMAN	I	608;608;595;568	ENSP00000430194:N608I;ENSP00000262105:N608I	ENSP00000262105:N608I	N	+	2	0	MCM4	49046476	1.000000	0.71417	0.994000	0.49952	0.589000	0.36550	9.300000	0.96151	1.159000	0.42565	0.533000	0.62120	AAT		0.498	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377791.1	NM_005914		18	69	0	0	0	1	0	18	69				
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T			TCGA-DJ-A3VB-01A-11D-A23M-08	TCGA-DJ-A3VB-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8ed773-385b-403c-84c7-b844e09dc4c1	0332cc08-f29e-466a-a43f-a653c565ab06	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632																																						ENST00000541274.1																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(379-381)agT>agA		aquaporin 7							36.0	43.0	41.0					9																	33385614		2199	4296	6495	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385614A>T	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000541274.1:c.381T>A	9.37:g.33385614A>T	ENSP00000438860:p.Ser127Arg					AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR	p.S127R			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	5	830	-			0					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000541274.1	37	c.381T>A		.	.	.	.	.	.	.	.	.	.	a	7.886	0.731251	0.15507	.	.	ENSG00000165269	ENST00000541274	T	0.54479	0.57	3.27	-5.32	0.02722	.	.	.	.	.	T	0.32164	0.0820	.	.	.	0.09310	N	1	B	0.21905	0.062	B	0.16289	0.015	T	0.25710	-1.0124	8	0.87932	D	0	.	2.0158	0.03497	0.1768:0.1404:0.4062:0.2767	.	127	B7Z7F6	.	R	127	ENSP00000438860:S127R	ENSP00000438860:S127R	S	-	3	2	AQP7	33375614	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.696000	0.05104	-1.265000	0.02449	0.449000	0.29647	AGT		0.632	AQP7-204	KNOWN	basic	protein_coding	protein_coding		NM_001170		7	106	0	0	0	1	0	7	106				
ZNF630	57232	broad.mit.edu	37	X	47918136	47918136	+	Silent	SNP	A	A	G			TCGA-DJ-A3VB-01A-11D-A23M-08	TCGA-DJ-A3VB-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8ed773-385b-403c-84c7-b844e09dc4c1	0332cc08-f29e-466a-a43f-a653c565ab06	g.chrX:47918136A>G	ENST00000409324.3	-	5	1921	c.1695T>C	c.(1693-1695)caT>caC	p.H565H	ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000442455.3_Silent_p.H551H|ZNF630_ENST00000276054.4_Silent_p.H441H	NM_001037735.2	NP_001032824.2	Q2M218	ZN630_HUMAN	zinc finger protein 630	565					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						TCTCTCCAGTATGACCTCTCT	0.453																																						ENST00000276054.4																			0				endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						c.(1321-1323)caT>caC		zinc finger protein 630							58.0	50.0	53.0					X																	47918136		2192	4287	6479	SO:0001819	synonymous_variant	57232				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47918136A>G	AK000580	CCDS35237.2, CCDS75971.1	Xp11.3-p11.1	2013-01-08			ENSG00000221994	ENSG00000221994		"""Zinc fingers, C2H2-type"", ""-"""	28855	protein-coding gene	gene with protein product		300819					Standard	NM_001037735		Approved	BC037316, dJ54B20.2, FLJ20573, MGC138344	uc004div.4	Q2M218	OTTHUMG00000021463	ENST00000409324.3:c.1695T>C	X.37:g.47918136A>G						ZNF630_ENST00000409324.3_Silent_p.H565H|ZNF630_ENST00000442455.3_Silent_p.H551H|ZNF630-AS1_ENST00000436124.1_RNA	p.H441H			Q2M218	ZN630_HUMAN			5	2257	-			565					F8WAG4|Q5H8Z5	Silent	SNP	ENST00000409324.3	37	c.1323T>C	CCDS35237.2																																																																																				0.453	ZNF630-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327254.1	NM_001037735		4	15	0	0	0	1	0	4	15				
GRK1	6011	broad.mit.edu	37	13	114324127	114324127	+	Silent	SNP	C	C	T			TCGA-DJ-A3VB-01A-11D-A23M-08	TCGA-DJ-A3VB-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8ed773-385b-403c-84c7-b844e09dc4c1	0332cc08-f29e-466a-a43f-a653c565ab06	g.chr13:114324127C>T	ENST00000335678.6	+	2	1057	c.825C>T	c.(823-825)atC>atT	p.I275I		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	275	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of apoptotic process (GO:0043066)|photoreceptor cell morphogenesis (GO:0008594)|phototransduction, visible light (GO:0007603)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)|rhodopsin kinase activity (GO:0050254)			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			GAGGTGACATCAGGTAAGGGC	0.597																																						ENST00000335678.6																			0				ovary(2)	2						c.(823-825)atC>atT		G protein-coupled receptor kinase 1							83.0	83.0	83.0					13																	114324127		1969	4147	6116	SO:0001819	synonymous_variant	6011				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity	g.chr13:114324127C>T			13q34	2013-09-02	2004-03-23	2004-03-24	ENSG00000185974	ENSG00000185974	2.7.11.14		10013	protein-coding gene	gene with protein product		180381	"""rhodopsin kinase"""	RHOK		8812493, 15057823	Standard	NM_002929		Approved	GPRK1, RK	uc010tkf.2	Q15835	OTTHUMG00000185528	ENST00000335678.6:c.825C>T	13.37:g.114324127C>T							p.I275I	NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	all cancers(43;0.234)		2	1057	+	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	275			Protein kinase.		Q53X14	Silent	SNP	ENST00000335678.6	37	c.825C>T																																																																																					0.597	GRK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470655.1	NM_002929		7	139	0	0	0	1	0	7	139				
PCBP3	54039	broad.mit.edu	37	21	47333995	47333995	+	Intron	SNP	A	A	C			TCGA-DJ-A3VB-01A-11D-A23M-08	TCGA-DJ-A3VB-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8ed773-385b-403c-84c7-b844e09dc4c1	0332cc08-f29e-466a-a43f-a653c565ab06	g.chr21:47333995A>C	ENST00000400314.1	+	10	1013				PCBP3_ENST00000400304.1_Missense_Mutation_p.H212P|PCBP3_ENST00000400310.1_Intron|PCBP3_ENST00000449640.1_Intron|PCBP3_ENST00000400308.1_Intron|PCBP3_ENST00000400309.1_Intron			P57721	PCBP3_HUMAN	poly(rC) binding protein 3						mRNA metabolic process (GO:0016071)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		TTACTGCAGCACCCGCCGCTG	0.627																																						ENST00000400304.1																			0				biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17						c.(634-636)cAc>cCc		poly(rC) binding protein 3							17.0	24.0	22.0					21																	47333995		691	1589	2280	SO:0001627	intron_variant	54039				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding	g.chr21:47333995A>C	AF176329	CCDS42974.2, CCDS46652.1	21q22.3	2013-07-16	2001-11-28		ENSG00000183570	ENSG00000183570			8651	protein-coding gene	gene with protein product		608502	"""poly(rC)-binding protein 3"""			10936052	Standard	NM_020528		Approved		uc002zhq.2	P57721	OTTHUMG00000090399	ENST00000400314.1:c.675+56A>C	21.37:g.47333995A>C						PCBP3_ENST00000400310.1_Intron|PCBP3_ENST00000449640.1_Intron|PCBP3_ENST00000400314.1_Intron|PCBP3_ENST00000468429.1_Intron|PCBP3_ENST00000400308.1_Intron|PCBP3_ENST00000400309.1_Intron	p.H212P			P57721	PCBP3_HUMAN		Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)	7	635	+	all_hematologic(128;0.24)		225					A8MPS2|A8MQ26|B7WNN9|B7WPC1|Q8N9K6|Q96EP6	Missense_Mutation	SNP	ENST00000400314.1	37	c.635A>C	CCDS42974.2	.	.	.	.	.	.	.	.	.	.	A	11.01	1.513211	0.27123	.	.	ENSG00000183570	ENST00000400304	T	0.48522	0.81	4.95	2.7	0.31948	.	0.165376	0.24041	U	0.042092	T	0.33527	0.0866	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.07462	-1.0771	9	0.35671	T	0.21	.	7.244	0.26112	0.741:0.1764:0.0826:0.0	.	212	E9PFP8	.	P	212	ENSP00000383159:H212P	ENSP00000383159:H212P	H	+	2	0	PCBP3	46158423	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.683000	0.68189	0.324000	0.23333	0.460000	0.39030	CAC		0.627	PCBP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206808.2			6	21	0	0	0	1	0	6	21				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A3VB-01A-11D-A23M-08	TCGA-DJ-A3VB-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8ed773-385b-403c-84c7-b844e09dc4c1	0332cc08-f29e-466a-a43f-a653c565ab06	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)	ENST00000288602.6	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(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)	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		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	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		29	48	0	0	0	1	0	29	48				
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74715180	74715180	+	Missense_Mutation	SNP	C	C	T	rs79045456		TCGA-DJ-A3VB-01A-11D-A23M-08	TCGA-DJ-A3VB-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8ed773-385b-403c-84c7-b844e09dc4c1	0332cc08-f29e-466a-a43f-a653c565ab06	g.chr1:74715180C>T	ENST00000370899.3	+	5	527	c.490C>T	c.(490-492)Cgc>Tgc	p.R164C	FPGT-TNNI3K_ENST00000370895.1_Missense_Mutation_p.R164C|TNNI3K_ENST00000370891.2_Missense_Mutation_p.R164C|FPGT-TNNI3K_ENST00000533006.1_3'UTR|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.R177C|TNNI3K_ENST00000326637.3_Missense_Mutation_p.R63C	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough																		TTTAAATTACCGCACTGAAAA	0.333																																						ENST00000370895.1																			0											c.(490-492)Cgc>Tgc									148.0	152.0	150.0					1																	74715180		2202	4300	6502	SO:0001583	missense	0					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	g.chr1:74715180C>T			1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.490C>T	1.37:g.74715180C>T	ENSP00000359936:p.Arg164Cys					FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.R164C|TNNI3K_ENST00000370891.2_Missense_Mutation_p.R164C|TNNI3K_ENST00000326637.3_Missense_Mutation_p.R63C|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.R164C	p.R164C			Q59H18	TNI3K_HUMAN			5	525	+			63						Missense_Mutation	SNP	ENST00000370899.3	37	c.490C>T		.	.	.	.	.	.	.	.	.	.	C	29.1	4.976370	0.92982	.	.	ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000370895;ENST00000557284;ENST00000370891;ENST00000326637	T;T;T;T;T	0.16196	2.36;2.36;2.36;2.36;2.36	5.83	5.83	0.93111	Ankyrin repeat-containing domain (3);	0.054702	0.64402	D	0.000001	T	0.25791	0.0628	L	0.34521	1.04	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.74674	0.925;0.984;0.931;0.967	T	0.01639	-1.1306	10	0.66056	D	0.02	.	19.7289	0.96175	0.0:1.0:0.0:0.0	.	63;164;164;164	Q59H18;Q59H18-1;Q59H18-4;Q59H18-3	TNI3K_HUMAN;.;.;.	C	164;164;164;164;63	ENSP00000359936:R164C;ENSP00000359932:R164C;ENSP00000450895:R164C;ENSP00000359928:R164C;ENSP00000322251:R63C	ENSP00000322251:R63C	R	+	1	0	RP11-653A5.2;AC093158.1	74487768	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.811000	0.55620	2.770000	0.95276	0.655000	0.94253	CGC		0.333	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3			7	50	0	0	0	1	0	7	50				
TBC1D3P2	440452	broad.mit.edu	37	17	60342197	60342197	+	RNA	SNP	T	T	C			TCGA-DJ-A3VB-01A-11D-A23M-08	TCGA-DJ-A3VB-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8ed773-385b-403c-84c7-b844e09dc4c1	0332cc08-f29e-466a-a43f-a653c565ab06	g.chr17:60342197T>C	ENST00000581291.1	-	0	1956									TBC1 domain family, member 3 pseudogene 2											breast(2)|kidney(1)|lung(2)	5						TGGGAGGGGCTGGGCATGGTT	0.488																																						ENST00000581291.1																			0				breast(2)|kidney(1)|lung(2)	5																																														0							g.chr17:60342197T>C			17q23.2	2009-05-14				ENSG00000188755			27783	pseudogene	pseudogene							Standard	NR_027486		Approved		uc002izq.2				17.37:g.60342197T>C														0	1956	-									RNA	SNP	ENST00000581291.1	37																																																																																						0.488	TBC1D3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445021.1	NR_027486		4	31	0	0	0	1	0	4	31				
EXOC3L2	90332	broad.mit.edu	37	19	45721473	45721473	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3VB-01A-11D-A23M-08	TCGA-DJ-A3VB-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8ed773-385b-403c-84c7-b844e09dc4c1	0332cc08-f29e-466a-a43f-a653c565ab06	g.chr19:45721473C>T	ENST00000252482.3	-	6	672	c.645G>A	c.(643-645)atG>atA	p.M215I	EXOC3L2_ENST00000413988.1_Missense_Mutation_p.M215I			Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	215					exocytosis (GO:0006887)	exocyst (GO:0000145)				endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		GCTCGTCCTGCATTCTGCGCA	0.667																																						ENST00000413988.1																			0				endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(643-645)atG>atA		exocyst complex component 3-like 2							13.0	11.0	12.0					19																	45721473		2187	4274	6461	SO:0001583	missense	90332							g.chr19:45721473C>T	AK093466	CCDS12657.1	19q13.32	2011-07-07			ENSG00000130201	ENSG00000130201			30162	protein-coding gene	gene with protein product						21566143	Standard	NM_138568		Approved	FLJ36147, XTP7	uc002pay.1	Q2M3D2	OTTHUMG00000155018	ENST00000252482.3:c.645G>A	19.37:g.45721473C>T	ENSP00000252482:p.Met215Ile					EXOC3L2_ENST00000252482.3_Missense_Mutation_p.M215I	p.M215I	NM_138568.3	NP_612635.3	Q2M3D2	EX3L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00883)	7	685	-		all_neural(266;0.224)|Ovarian(192;0.231)	215					Q8N9W2|Q96GV2	Missense_Mutation	SNP	ENST00000252482.3	37	c.645G>A	CCDS12657.1	.	.	.	.	.	.	.	.	.	.	C	0.145	-1.098063	0.01843	.	.	ENSG00000130201	ENST00000252482;ENST00000413988	T;T	0.06608	3.28;3.28	3.74	3.74	0.42951	.	0.506389	0.20810	N	0.085262	T	0.05960	0.0155	L	0.36672	1.1	0.29961	N	0.819412	B	0.19445	0.036	B	0.22152	0.038	T	0.14952	-1.0454	10	0.18710	T	0.47	.	11.3799	0.49750	0.0:1.0:0.0:0.0	.	215	Q2M3D2	EX3L2_HUMAN	I	215	ENSP00000252482:M215I;ENSP00000400713:M215I	ENSP00000252482:M215I	M	-	3	0	EXOC3L2	50413313	1.000000	0.71417	0.952000	0.39060	0.375000	0.29983	4.593000	0.61034	1.815000	0.52974	0.205000	0.17691	ATG		0.667	EXOC3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338073.1	NM_138568		5	8	0	0	0	1	0	5	8				
GPR139	124274	broad.mit.edu	37	16	20043241	20043241	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3VB-01A-11D-A23M-08	TCGA-DJ-A3VB-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8ed773-385b-403c-84c7-b844e09dc4c1	0332cc08-f29e-466a-a43f-a653c565ab06	g.chr16:20043241C>T	ENST00000570682.1	-	2	1178	c.878G>A	c.(877-879)cGc>cAc	p.R293H		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	293					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TGCCATGGTGCGGAACCGCTT	0.512																																						ENST00000570682.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						c.(877-879)cGc>cAc		G protein-coupled receptor 139							112.0	110.0	111.0					16																	20043241		2203	4300	6503	SO:0001583	missense	124274					integral to membrane|plasma membrane		g.chr16:20043241C>T	AY255545	CCDS32398.1	16p13.11	2012-08-21						"""GPCR / Class A : Orphans"""	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.878G>A	16.37:g.20043241C>T	ENSP00000458791:p.Arg293His						p.R293H	NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN			2	1178	-			293					A8K5R9|Q86SP2|Q8TDU8	Missense_Mutation	SNP	ENST00000570682.1	37	c.878G>A	CCDS32398.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.543913	0.86022	.	.	ENSG00000180269	ENST00000326571	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.65407	0.2688	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70357	-0.4894	9	0.87932	D	0	-36.5487	18.4466	0.90686	0.0:1.0:0.0:0.0	.	293	Q6DWJ6	GP139_HUMAN	H	293	.	ENSP00000370779:R293H	R	-	2	0	GPR139	19950742	1.000000	0.71417	0.989000	0.46669	0.999000	0.98932	7.484000	0.81180	2.581000	0.87130	0.655000	0.94253	CGC		0.512	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	NM_001002911		75	141	0	0	0	1	0	75	141				
OR2T7	81458	broad.mit.edu	37	1	248604559	248604560	+	Frame_Shift_Ins	INS	-	-	TC	rs58223479|rs150497047|rs397951667	byFrequency	TCGA-DJ-A3VB-01A-11D-A23M-08	TCGA-DJ-A3VB-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8ed773-385b-403c-84c7-b844e09dc4c1	0332cc08-f29e-466a-a43f-a653c565ab06	g.chr1:248604559_248604560insTC	ENST00000460972.3	+	1	52_53	c.52_53insTC	c.(52-54)ttcfs	p.F18fs				P0C7T2	OR2T7_HUMAN	olfactory receptor, family 2, subfamily T, member 7	18						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)										TTCCCCTGGCTTCTTTGCCCTC	0.515														2957	0.590455	0.5499	0.6398	5008	,	,		5805	0.626		0.5865	False		,,,				2504	0.5777					ENST00000460972.3																			0											c.(52-54)cttfs		olfactory receptor, family 2, subfamily T, member 7																																				SO:0001589	frameshift_variant	81458							g.chr1:248604559_248604560insTC			1q44	2013-09-05		2004-03-10	ENSG00000227152	ENSG00000227152		"""GPCR / Class A : Olfactory receptors"""	15019	protein-coding gene	gene with protein product				OR2T7P			Standard	NG_004272		Approved	OST723		P0C7T2	OTTHUMG00000040449	ENST00000460972.3:c.53_54dupTC	1.37:g.248604560_248604561dupTC	ENSP00000475521:p.Phe18fs						p.L18fs							1	52_53	+									Frame_Shift_Ins	INS	ENST00000460972.3	37	c.52_53insTC																																																																																					0.515	OR2T7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000097345.3			2	4						2	4	---	---	---	---
CHD4	1108	broad.mit.edu	37	12	6711546	6711546	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DJ-A3VB-01A-11D-A23M-08	TCGA-DJ-A3VB-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8ed773-385b-403c-84c7-b844e09dc4c1	0332cc08-f29e-466a-a43f-a653c565ab06	g.chr12:6711546delT	ENST00000357008.2	-	3	381	c.218delA	c.(217-219)aagfs	p.K73fs	CHD4_ENST00000309577.6_Frame_Shift_Del_p.K73fs|CHD4_ENST00000544484.1_Frame_Shift_Del_p.K70fs|CHD4_ENST00000544040.1_Frame_Shift_Del_p.K73fs	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	73					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						ACTCACCTCCTTTTTTTGGCG	0.468																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(217-219)agfs		chromodomain helicase DNA binding protein 4							229.0	232.0	231.0					12																	6711546		2203	4300	6503	SO:0001589	frameshift_variant	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6711546delT	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.218delA	12.37:g.6711546delT	ENSP00000349508:p.Lys73fs					CHD4_ENST00000357008.2_Frame_Shift_Del_p.K73fs|CHD4_ENST00000544484.1_Frame_Shift_Del_p.K70fs|CHD4_ENST00000544040.1_Frame_Shift_Del_p.K73fs	p.K73fs			Q14839	CHD4_HUMAN			3	381	-			73					Q8IXZ5	Frame_Shift_Del	DEL	ENST00000357008.2	37	c.218delA	CCDS8552.1																																																																																				0.468	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		7	513						7	513	---	---	---	---
IGHV3-38	28429	broad.mit.edu	37	14	106866725	106866726	+	RNA	DEL	CC	CC	-	rs555467792	byFrequency	TCGA-DJ-A3VB-01A-11D-A23M-08	TCGA-DJ-A3VB-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8ed773-385b-403c-84c7-b844e09dc4c1	0332cc08-f29e-466a-a43f-a653c565ab06	g.chr14:106866725_106866726delCC	ENST00000390618.2	-	0	124									immunoglobulin heavy variable 3-38 (non-functional)																		CACAGAGACACCAAGGTCAGAA	0.52														4	0.000798722	0.0023	0.0	5008	,	,		17126	0.0		0.0	False		,,,				2504	0.001					ENST00000390618.2																			0																																																			0							g.chr14:106866725_106866726delCC	M99669		14q32.33	2012-02-08	2008-08-22		ENSG00000211958	ENSG00000211958		"""Immunoglobulins / IGH locus"""	5601	other	immunoglobulin gene			"""immunoglobulin heavy variable 3-38"""				Standard	NG_001019		Approved				OTTHUMG00000152093		14.37:g.106866725_106866726delCC														0	124	-									RNA	DEL	ENST00000390618.2	37																																																																																						0.520	IGHV3-38-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325190.1	NG_001019		8	493						8	493	---	---	---	---
CTD-2245F17.3	0	broad.mit.edu	37	19	53703995	53703995	+	lincRNA	DEL	T	T	-	rs559860539|rs34190287|rs66639120	byFrequency	TCGA-DJ-A3VB-01A-11D-A23M-08	TCGA-DJ-A3VB-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db8ed773-385b-403c-84c7-b844e09dc4c1	0332cc08-f29e-466a-a43f-a653c565ab06	g.chr19:53703995delT	ENST00000597550.1	+	0	232																											TGTTTCCCCCttttttttttt	0.473													|||unknown(HR)	1522	0.303914	0.3994	0.2983	5008	,	,		15302	0.2619		0.2346	False		,,,				2504	0.2935					ENST00000597550.1																			0																																																			0							g.chr19:53703995delT																													19.37:g.53703995delT														0	232	+									RNA	DEL	ENST00000597550.1	37																																																																																						0.473	CTD-2245F17.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000464185.1			3	5						3	5	---	---	---	---
