#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
GRIK3	2899	broad.mit.edu	37	1	37282846	37282846	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr1:37282846G>A	ENST00000373091.3	-	13	1922	c.1906C>T	c.(1906-1908)Cgc>Tgc	p.R636C	GRIK3_ENST00000373093.4_Missense_Mutation_p.R636C	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	636					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				CCAATGATGCGTGTGGACAGG	0.562																																						ENST00000373091.3																			0				breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89						c.(1906-1908)Cgc>Tgc		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						143.0	127.0	132.0					1																	37282846		2203	4300	6503	SO:0001583	missense	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37282846G>A	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.1906C>T	1.37:g.37282846G>A	ENSP00000362183:p.Arg636Cys					GRIK3_ENST00000373093.4_Missense_Mutation_p.R636C	p.R636C	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN			13	1922	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	636					A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	c.1906C>T	CCDS416.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856428	0.71834	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.74632	-0.86;-0.86	5.74	4.8	0.61643	Ionotropic glutamate receptor (2);	0.118916	0.56097	D	0.000038	D	0.89663	0.6780	H	0.95224	3.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91985	0.5598	10	0.87932	D	0	.	13.8912	0.63740	0.0:0.0:0.7268:0.2732	.	636;636	A9Z1Z8;Q13003	.;GRIK3_HUMAN	C	636	ENSP00000362183:R636C;ENSP00000362185:R636C	ENSP00000362183:R636C	R	-	1	0	GRIK3	37055433	0.990000	0.36364	0.969000	0.41365	0.973000	0.67179	1.929000	0.40114	2.720000	0.93068	0.650000	0.86243	CGC		0.562	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		18	57	0	0	0	1	0	18	57				
MGAM	8972	broad.mit.edu	37	7	141754631	141754631	+	Silent	SNP	G	G	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr7:141754631G>A	ENST00000549489.2	+	27	3332	c.3237G>A	c.(3235-3237)gaG>gaA	p.E1079E	MGAM_ENST00000475668.2_Silent_p.E1079E	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1079	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)	GCACCCCTGAGGGTCAACTCT	0.448																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(3235-3237)gaG>gaA		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						134.0	128.0	130.0					7																	141754631		1919	4116	6035	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.chr7:141754631G>A	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.3237G>A	7.37:g.141754631G>A						MGAM_ENST00000549489.2_Silent_p.E1079E	p.E1079E			O43451	MGA_HUMAN			27	3291	+	Melanoma(164;0.0272)		1079			Glucoamylase.		Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000549489.2	37	c.3237G>A	CCDS47727.1																																																																																				0.448	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			40	95	0	0	0	1	0	40	95				
SYTL2	54843	broad.mit.edu	37	11	85445750	85445750	+	Missense_Mutation	SNP	C	C	T	rs146760470		TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr11:85445750C>T	ENST00000528231.1	-	6	896	c.619G>A	c.(619-621)Gca>Aca	p.A207T	SYTL2_ENST00000527523.1_Missense_Mutation_p.A159T|SYTL2_ENST00000316356.4_Missense_Mutation_p.A208T|SYTL2_ENST00000524452.1_Missense_Mutation_p.A207T|SYTL2_ENST00000389960.4_Missense_Mutation_p.A207T	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	207					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GAAGTATCTGCGACAGTTGAC	0.358																																						ENST00000316356.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(622-624)Gca>Aca		synaptotagmin-like 2		C	THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	86.0	86.0	86.0		619,622,619	-0.9	0.0	11	dbSNP_134	86	0,8598		0,0,4299	no	missense,missense,missense	SYTL2	NM_001162951.1,NM_001162953.1,NM_032943.3	58,58,58	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	,,	207/935,208/936,207/911	85445750	1,13003	2203	4299	6502	SO:0001583	missense	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85445750C>T	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.619G>A	11.37:g.85445750C>T	ENSP00000431701:p.Ala207Thr					SYTL2_ENST00000528231.1_Missense_Mutation_p.A207T|SYTL2_ENST00000524452.1_Missense_Mutation_p.A207T|SYTL2_ENST00000527523.1_Missense_Mutation_p.A159T|SYTL2_ENST00000389960.4_Missense_Mutation_p.A207T	p.A208T			Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	7	1186	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	207					B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	ENST00000528231.1	37	c.622G>A	CCDS53688.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.474446	0.00167	2.27E-4	0.0	ENSG00000137501	ENST00000389960;ENST00000316356;ENST00000528231;ENST00000527523;ENST00000524452	T;T;T;T;T	0.25749	1.88;1.88;1.88;1.78;1.88	5.54	-0.899	0.10547	.	.	.	.	.	T	0.08758	0.0217	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.26318	0.001;0.022;0.146;0.009;0.005	B;B;B;B;B	0.18871	0.001;0.008;0.023;0.003;0.0	T	0.30880	-0.9963	8	.	.	.	.	1.0195	0.01515	0.2163:0.3204:0.2393:0.224	.	159;207;207;208;65	Q9HCH5-14;Q9HCH5-6;Q9HCH5;Q9HCH5-13;Q9HCH5-15	.;.;SYTL2_HUMAN;.;.	T	207;208;207;159;207	ENSP00000374610:A207T;ENSP00000318803:A208T;ENSP00000431701:A207T;ENSP00000434010:A159T;ENSP00000435238:A207T	.	A	-	1	0	SYTL2	85123398	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.608000	0.05641	-0.063000	0.13065	-2.291000	0.00267	GCA		0.358	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		11	39	0	0	0	1	0	11	39				
HNRNPA2B1	3181	broad.mit.edu	37	7	26236221	26236221	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr7:26236221C>G	ENST00000354667.4	-	6	737	c.569G>C	c.(568-570)aGa>aCa	p.R190T	HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.R178T	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	190	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|RNA binding (GO:0003723)|single-stranded telomeric DNA binding (GO:0043047)		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						CATTTCTTGTCTAGACAAAGC	0.333			T	ETV1	prostate																																	ENST00000354667.4				Dom	yes		7	7p15	3181	T	heterogeneous nuclear ribonucleoprotein A2/B1			E	ETV1		prostate	HNRNPA2B1/ETV1(8)	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						c.(568-570)aGa>aCa		heterogeneous nuclear ribonucleoprotein A2/B1							177.0	187.0	184.0					7																	26236221		2203	4300	6503	SO:0001583	missense	3181				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding	g.chr7:26236221C>G	D28877	CCDS5397.1, CCDS43557.1	7p15	2013-02-12		2007-08-16	ENSG00000122566	ENSG00000122566		"""RNA binding motif (RRM) containing"""	5033	protein-coding gene	gene with protein product		600124		HNRPA2B1		8029005	Standard	NM_002137		Approved		uc003sxr.4	P22626	OTTHUMG00000023471	ENST00000354667.4:c.569G>C	7.37:g.26236221C>G	ENSP00000346694:p.Arg190Thr					HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.R178T	p.R190T	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN			6	737	-			190			RRM 2.		A8K064|P22627|Q9UC98|Q9UDJ2	Missense_Mutation	SNP	ENST00000354667.4	37	c.569G>C	CCDS43557.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.364726	0.61513	.	.	ENSG00000122566	ENST00000354667;ENST00000356674;ENST00000409814	D;D	0.86030	-2.06;-2.06	6.06	5.17	0.71159	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.149275	0.46145	D	0.000316	D	0.83473	0.5262	M	0.81942	2.565	0.31614	N	0.651134	B;P	0.47409	0.452;0.895	B;B	0.38056	0.07;0.264	D	0.87042	0.2141	10	0.87932	D	0	.	9.9656	0.41723	0.1394:0.7923:0.0:0.0683	.	178;190	P22626-2;P22626	.;ROA2_HUMAN	T	190;178;178	ENSP00000346694:R190T;ENSP00000349101:R178T	ENSP00000346694:R190T	R	-	2	0	HNRNPA2B1	26202746	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.774000	0.55341	1.523000	0.49018	0.650000	0.86243	AGA		0.333	HNRNPA2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214109.1	NM_002137		39	96	0	0	0	1	0	39	96				
PCDHA10	56139	broad.mit.edu	37	5	140236812	140236812	+	Silent	SNP	G	G	A	rs148283153		TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr5:140236812G>A	ENST00000307360.5	+	1	1179	c.1179G>A	c.(1177-1179)ccG>ccA	p.P393P	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Silent_p.P393P|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	393	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCACGTTCCGTTCAAGCTGG	0.567																																						ENST00000307360.5																			0				NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(1177-1179)ccG>ccA									145.0	127.0	133.0					5																	140236812		2197	4273	6470	SO:0001819	synonymous_variant	56139							g.chr5:140236812G>A	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1179G>A	5.37:g.140236812G>A						PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Silent_p.P393P	p.P393P	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1179	+								A1L493|O75280|Q9NRU2	Silent	SNP	ENST00000307360.5	37	c.1179G>A	CCDS54921.1																																																																																				0.567	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		43	140	0	0	0	1	0	43	140				
EIF4ENIF1	56478	broad.mit.edu	37	22	31844167	31844167	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr22:31844167C>T	ENST00000397525.1	-	13	2043	c.1820G>A	c.(1819-1821)cGc>cAc	p.R607H	EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.R583H|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.R432H|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.R607H|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.R262H	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	607						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CATGGGTTTGCGCATGCCTTG	0.537																																						ENST00000397525.1																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1819-1821)cGc>cAc		eukaryotic translation initiation factor 4E nuclear import factor 1							242.0	210.0	221.0					22																	31844167		2203	4300	6503	SO:0001583	missense	56478					nucleus	protein binding|protein transporter activity	g.chr22:31844167C>T	AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.1820G>A	22.37:g.31844167C>T	ENSP00000380659:p.Arg607His					EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.R583H|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.R607H|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.R262H|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.R432H	p.R607H	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN			13	2043	-			607					B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Missense_Mutation	SNP	ENST00000397525.1	37	c.1820G>A	CCDS13898.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.713180	0.68730	.	.	ENSG00000184708	ENST00000344710;ENST00000397525;ENST00000330125;ENST00000397523;ENST00000382180;ENST00000418321	.	.	.	6.16	5.15	0.70609	.	0.182608	0.51477	D	0.000084	T	0.54902	0.1887	N	0.21373	0.66	0.40366	D	0.979293	D;D;B;B	0.89917	1.0;0.999;0.251;0.007	D;P;B;B	0.66602	0.945;0.903;0.03;0.011	T	0.52983	-0.8502	9	0.23891	T	0.37	-6.7681	12.949	0.58389	0.0:0.9262:0.0:0.0738	.	432;607;432;583	B1AKL3;Q9NRA8;Q9NRA8-2;B1AKL4	.;4ET_HUMAN;.;.	H	432;607;607;583;262;164	.	ENSP00000328103:R607H	R	-	2	0	EIF4ENIF1	30174167	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.390000	0.34464	1.628000	0.50416	0.650000	0.86243	CGC		0.537	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843		4	124	0	0	0	1	0	4	124				
LINC01317	104355287	broad.mit.edu	37	2	33952259	33952259	+	lincRNA	SNP	C	C	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr2:33952259C>A	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA																							TCTCGTCTGCCAGGGCTGGAC	0.592																																						ENST00000366209.2																			0																																																			104355287							g.chr2:33952259C>A																													2.37:g.33952259C>A						MYADML_ENST00000474610.1_RNA								0	68	+									RNA	SNP	ENST00000366209.2	37																																																																																						0.592	AC009499.1-002	KNOWN	non_canonical_polymorphism|basic	lincRNA	lincRNA	OTTHUMT00000325406.1			4	9	1	0	0.00024832	1	0.000255154	4	9				
USP29	57663	broad.mit.edu	37	19	57640887	57640887	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr19:57640887C>A	ENST00000254181.4	+	4	1298	c.844C>A	c.(844-846)Caa>Aaa	p.Q282K	USP29_ENST00000598197.1_Missense_Mutation_p.Q282K	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	282					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCATTCACAGCAACTGCAGCA	0.463																																						ENST00000254181.4																			0				breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(844-846)Caa>Aaa		ubiquitin specific peptidase 29							78.0	76.0	76.0					19																	57640887		2203	4300	6503	SO:0001583	missense	57663				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57640887C>A		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.844C>A	19.37:g.57640887C>A	ENSP00000254181:p.Gln282Lys					USP29_ENST00000598197.1_Missense_Mutation_p.Q282K	p.Q282K	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	1298	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	282						Missense_Mutation	SNP	ENST00000254181.4	37	c.844C>A	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	C	0.137	-1.106486	0.01828	.	.	ENSG00000131864	ENST00000254181	T	0.48522	0.81	2.68	0.431	0.16523	.	1.485610	0.05112	N	0.489128	T	0.26955	0.0660	N	0.16098	0.37	0.09310	N	1	B	0.21225	0.053	B	0.25987	0.065	T	0.19224	-1.0312	10	0.10111	T	0.7	-6.3312	3.1953	0.06631	0.2591:0.5927:0.0:0.1482	.	282	Q9HBJ7	UBP29_HUMAN	K	282	ENSP00000254181:Q282K	ENSP00000254181:Q282K	Q	+	1	0	USP29	62332699	0.023000	0.18921	0.000000	0.03702	0.003000	0.03518	0.514000	0.22786	0.168000	0.19655	-0.302000	0.09304	CAA		0.463	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			6	26	1	0	5.9392e-07	1	6.39606e-07	6	26				
MAP2K1	5604	broad.mit.edu	37	15	66779609	66779609	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr15:66779609G>T	ENST00000307102.5	+	8	1470	c.939G>T	c.(937-939)ttG>ttT	p.L313F	CTD-3185P2.2_ENST00000602360.1_RNA|CTD-3185P2.1_ENST00000565387.1_RNA|MAP2K1_ENST00000566326.1_Missense_Mutation_p.L137F	NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	313	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi inheritance (GO:0048313)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte differentiation (GO:0030216)|labyrinthine layer development (GO:0060711)|MAPK cascade (GO:0000165)|melanosome transport (GO:0032402)|mitotic nuclear division (GO:0007067)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell proliferation (GO:0008285)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|neurotrophin TRK receptor signaling pathway (GO:0048011)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|regulation of vascular smooth muscle contraction (GO:0003056)|response to axon injury (GO:0048678)|response to glucocorticoid (GO:0051384)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vesicle transport along microtubule (GO:0047496)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine phosphatase activity (GO:0004728)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20					Bosutinib(DB06616)|Trametinib(DB08911)	TTTTTGAGTTGTTGGATTACA	0.403																																						ENST00000307102.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						c.(937-939)ttG>ttT		mitogen-activated protein kinase kinase 1							141.0	131.0	134.0					15																	66779609		2201	4299	6500	SO:0001583	missense	5604				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr15:66779609G>T	L11284	CCDS10216.1	15q22.1-q22.33	2014-09-17			ENSG00000169032	ENSG00000169032	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6840	protein-coding gene	gene with protein product		176872		PRKMK1		9465908, 8388392	Standard	NM_002755		Approved	MEK1, MAPKK1	uc010bhq.3	Q02750	OTTHUMG00000133196	ENST00000307102.5:c.939G>T	15.37:g.66779609G>T	ENSP00000302486:p.Leu313Phe					MAP2K1_ENST00000566326.1_Missense_Mutation_p.L137F	p.L313F	NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN			8	1470	+			313			Protein kinase.			Missense_Mutation	SNP	ENST00000307102.5	37	c.939G>T	CCDS10216.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.713053	0.68730	.	.	ENSG00000169032	ENST00000307102	D	0.93604	-3.25	5.8	2.96	0.34315	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93664	0.7976	L	0.56340	1.77	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.995	D	0.90423	0.4418	10	0.66056	D	0.02	-16.1449	1.5717	0.02616	0.2152:0.1157:0.4555:0.2136	.	291;313	B4DFY5;Q02750	.;MP2K1_HUMAN	F	313	ENSP00000302486:L313F	ENSP00000302486:L313F	L	+	3	2	MAP2K1	64566663	0.996000	0.38824	0.982000	0.44146	0.995000	0.86356	0.705000	0.25675	0.391000	0.25143	0.655000	0.94253	TTG		0.403	MAP2K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256906.4			20	84	1	0	4.16121e-05	1	4.31533e-05	20	84				
SLC26A8	116369	broad.mit.edu	37	6	35919265	35919265	+	Silent	SNP	G	G	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr6:35919265G>A	ENST00000490799.1	-	18	2597	c.2244C>T	c.(2242-2244)gcC>gcT	p.A748A	SLC26A8_ENST00000355574.2_Silent_p.A748A|SLC26A8_ENST00000394602.2_Silent_p.A643A	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						CGTTTTGAAAGGCATTGCATA	0.448																																						ENST00000490799.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						c.(2242-2244)gcC>gcT		solute carrier family 26 (anion exchanger), member 8							126.0	115.0	119.0					6																	35919265		2203	4300	6503	SO:0001819	synonymous_variant	116369				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	g.chr6:35919265G>A	AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"""Solute carriers"""	14468	protein-coding gene	gene with protein product		608480	"""solute carrier family 26, member 8"""			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.2244C>T	6.37:g.35919265G>A						SLC26A8_ENST00000394602.2_Silent_p.A643A|SLC26A8_ENST00000355574.2_Silent_p.A748A	p.A748A	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN			18	2597	-			748			Interaction with RACGAP1.|STAS.			Silent	SNP	ENST00000490799.1	37	c.2244C>T	CCDS4813.1																																																																																				0.448	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			12	52	0	0	0	1	0	12	52				
ALOX15B	247	broad.mit.edu	37	17	7951872	7951872	+	Missense_Mutation	SNP	G	G	A	rs201702180		TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr17:7951872G>A	ENST00000380183.4	+	14	2159	c.2020G>A	c.(2020-2022)Gtc>Atc	p.V674I	ALOX15B_ENST00000380173.2_Missense_Mutation_p.V645I|ALOX15B_ENST00000573359.1_Missense_Mutation_p.V600I|ALOX15B_ENST00000572022.1_Missense_Mutation_p.V662I	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	674	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic process (GO:0006915)|arachidonic acid metabolic process (GO:0019369)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipid metabolic process (GO:0006629)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostate gland development (GO:0030850)|regulation of epithelial cell differentiation (GO:0030856)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonate 15-lipoxygenase activity (GO:0050473)|arachidonate 8(S)-lipoxygenase activity (GO:0036403)|calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|lipid binding (GO:0008289)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						CGAGAACAGCGTCTCCATCTA	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		17483	0.0		0.001	False		,,,				2504	0.0					ENST00000380183.4																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						c.(2020-2022)Gtc>Atc		arachidonate 15-lipoxygenase, type B							89.0	88.0	88.0					17																	7951872		2203	4300	6503	SO:0001583	missense	247				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:7951872G>A	U78294	CCDS11128.1, CCDS32558.1, CCDS32559.1	17p13.1	2013-03-20	2006-01-16		ENSG00000179593	ENSG00000179593	1.13.11.33	"""Arachidonate lipoxygenases"""	434	protein-coding gene	gene with protein product		603697	"""arachidonate 15-lipoxygenase, second type"""			9177185	Standard	NM_001039130		Approved	15-LOX-2	uc002gju.3	O15296	OTTHUMG00000108181	ENST00000380183.4:c.2020G>A	17.37:g.7951872G>A	ENSP00000369530:p.Val674Ile					ALOX15B_ENST00000572022.1_Missense_Mutation_p.V662I|ALOX15B_ENST00000573359.1_Missense_Mutation_p.V600I|ALOX15B_ENST00000380173.2_Missense_Mutation_p.V645I	p.V674I	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN			14	2159	+			674			Lipoxygenase.		D3DTR2|Q8IYQ2|Q8TEV3|Q8TEV4|Q8TEV5|Q8TEV6|Q9UKM4	Missense_Mutation	SNP	ENST00000380183.4	37	c.2020G>A	CCDS11128.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	12.63	1.996996	0.35226	.	.	ENSG00000179593	ENST00000380173;ENST00000339694;ENST00000380183	D;D	0.88124	-2.34;-2.34	3.76	1.75	0.24633	Lipoxygenase, C-terminal (2);	0.187532	0.46442	N	0.000282	T	0.71584	0.3357	N	0.11789	0.175	0.36519	D	0.870047	B;B;B;B	0.31769	0.229;0.339;0.339;0.143	B;B;B;B	0.29267	0.034;0.1;0.1;0.046	T	0.68903	-0.5286	10	0.27082	T	0.32	-28.5325	9.2569	0.37588	0.2003:0.0:0.7997:0.0	.	662;600;645;674	B4DNW8;O15296-2;O15296-4;O15296	.;.;.;LX15B_HUMAN	I	645;600;674	ENSP00000369520:V645I;ENSP00000369530:V674I	ENSP00000344337:V600I	V	+	1	0	ALOX15B	7892597	0.001000	0.12720	0.963000	0.40424	0.924000	0.55760	-0.120000	0.10660	0.924000	0.37069	0.462000	0.41574	GTC		0.582	ALOX15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226985.2			16	53	0	0	0	1	0	16	53				
CACNA1G	8913	broad.mit.edu	37	17	48669100	48669100	+	Splice_Site	SNP	C	C	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr17:48669100C>A	ENST00000359106.5	+	12	2640	c.2640C>A	c.(2638-2640)agC>agA	p.S880R	CACNA1G_ENST00000442258.2_Splice_Site_p.S880R|CACNA1G_ENST00000515165.1_Splice_Site_p.S880R|CACNA1G_ENST00000354983.4_Splice_Site_p.S880R|CACNA1G_ENST00000512389.1_Splice_Site_p.S880R|CACNA1G_ENST00000515765.1_Splice_Site_p.S880R|CACNA1G_ENST00000503485.1_Splice_Site_p.S880R|CACNA1G_ENST00000502264.1_Splice_Site_p.S880R|CACNA1G_ENST00000514181.1_Splice_Site_p.S880R|CACNA1G_ENST00000514079.1_Splice_Site_p.S880R|CACNA1G_ENST00000507510.2_Splice_Site_p.S880R|CACNA1G_ENST00000513964.1_Splice_Site_p.S880R|CACNA1G_ENST00000507609.1_Splice_Site_p.S880R|CACNA1G_ENST00000513689.2_Splice_Site_p.S880R|CACNA1G_ENST00000507336.1_Splice_Site_p.S880R|CACNA1G_ENST00000505165.1_Splice_Site_p.S880R|CACNA1G_ENST00000510115.1_Splice_Site_p.S880R|CACNA1G_ENST00000360761.4_Splice_Site_p.S880R|CACNA1G_ENST00000416767.4_Splice_Site_p.S880R|CACNA1G_ENST00000510366.1_Splice_Site_p.S880R|CACNA1G_ENST00000515411.1_Splice_Site_p.S880R|CACNA1G_ENST00000514717.1_Splice_Site_p.S880R|CACNA1G_ENST00000507896.1_Splice_Site_p.S880R|CACNA1G_ENST00000429973.2_Splice_Site_p.S880R|CACNA1G_ENST00000352832.5_Splice_Site_p.S880R|CACNA1G_ENST00000358244.5_Splice_Site_p.S880R	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	880					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GTGCCCACAGCATCCTGGGCA	0.637																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.e12-1		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						47.0	50.0	49.0					17																	48669100		2062	4195	6257	SO:0001630	splice_region_variant	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48669100C>A	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.2640-1C>A	17.37:g.48669100C>A						CACNA1G_ENST00000359106.5_Splice_Site_p.S880_splice|CACNA1G_ENST00000507896.1_Splice_Site_p.S880_splice|CACNA1G_ENST00000354983.4_Splice_Site_p.S880_splice|CACNA1G_ENST00000510115.1_Splice_Site_p.S880_splice|CACNA1G_ENST00000502264.1_Splice_Site_p.S880_splice|CACNA1G_ENST00000507510.2_Splice_Site_p.S880_splice|CACNA1G_ENST00000507609.1_Splice_Site_p.S880_splice|CACNA1G_ENST00000507336.1_Splice_Site_p.S880_splice|CACNA1G_ENST00000514181.1_Splice_Site_p.S880_splice|CACNA1G_ENST00000514079.1_Splice_Site_p.S880_splice|CACNA1G_ENST00000358244.5_Splice_Site_p.S880_splice|CACNA1G_ENST00000505165.1_Splice_Site_p.S880_splice|CACNA1G_ENST00000416767.4_Splice_Site_p.S880_splice|CACNA1G_ENST00000442258.2_Splice_Site_p.S880_splice|CACNA1G_ENST00000515765.1_Splice_Site_p.S880_splice|CACNA1G_ENST00000360761.4_Splice_Site_p.S880_splice|CACNA1G_ENST00000515411.1_Splice_Site_p.S880_splice|CACNA1G_ENST00000515165.1_Splice_Site_p.S880_splice|CACNA1G_ENST00000512389.1_Splice_Site_p.S880_splice|CACNA1G_ENST00000513689.2_Splice_Site_p.S880_splice|CACNA1G_ENST00000514717.1_Splice_Site_p.S880_splice|CACNA1G_ENST00000503485.1_Splice_Site_p.S880_splice|CACNA1G_ENST00000510366.1_Splice_Site_p.S880_splice|CACNA1G_ENST00000513964.1_Splice_Site_p.S880_splice|CACNA1G_ENST00000429973.2_Splice_Site_p.S880_splice	p.S880_splice	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		12	3012	+	Breast(11;6.7e-17)		880					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Splice_Site	SNP	ENST00000359106.5	37	c.2639_splice	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	c	17.78	3.474079	0.63737	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97850	-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57	5.44	4.47	0.54385	Ion transport (1);	0.137426	0.64402	D	0.000001	D	0.98469	0.9490	M	0.86573	2.825	0.58432	D	0.999999	D;D;P;D;P;D;D;P;D;P;P;D;D;P;D;D;D;D;D;D;D;D;P;D;D;D	0.89917	0.999;0.998;0.623;0.998;0.927;0.999;0.999;0.872;0.999;0.933;0.926;0.969;0.988;0.95;0.999;0.998;1.0;1.0;0.972;0.988;0.998;0.975;0.926;0.999;0.996;1.0	D;D;B;D;P;D;D;P;D;P;P;P;D;P;D;D;D;D;P;D;D;D;P;D;D;D	0.91635	0.995;0.978;0.336;0.998;0.824;0.998;0.997;0.679;0.997;0.838;0.615;0.907;0.944;0.883;0.997;0.978;0.998;0.999;0.883;0.944;0.993;0.944;0.615;0.978;0.951;0.996	D	0.98292	1.0514	9	.	.	.	.	8.3366	0.32219	0.0:0.7772:0.0:0.2228	.	880;880;880;880;880;880;880;880;880;880;880;880;880;880;880;880;880;880;880;880;880;880;880;880;880;880	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	R	880	ENSP00000353990:S880R;ENSP00000339302:S880R;ENSP00000392390:S880R;ENSP00000347078:S880R;ENSP00000409759:S880R;ENSP00000425522:S880R;ENSP00000426261:S880R;ENSP00000425451:S880R;ENSP00000422407:S880R;ENSP00000426814:S880R;ENSP00000427238:S880R;ENSP00000423112:S880R;ENSP00000420918:S880R;ENSP00000426172:S880R;ENSP00000423045:S880R;ENSP00000427173:S880R;ENSP00000426098:S880R;ENSP00000425698:S880R;ENSP00000426232:S880R;ENSP00000423317:S880R;ENSP00000350979:S880R;ENSP00000352011:S880R;ENSP00000414388:S880R;ENSP00000423155:S880R;ENSP00000422268:S880R;ENSP00000421518:S880R	.	S	+	3	2	CACNA1G	46024099	0.996000	0.38824	1.000000	0.80357	0.945000	0.59286	0.372000	0.20467	2.561000	0.86390	0.462000	0.41574	AGC		0.637	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896	Missense_Mutation	10	29	1	0	1.58986e-06	1	1.69585e-06	10	29				
CNKSR1	10256	broad.mit.edu	37	1	26510269	26510269	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr1:26510269C>T	ENST00000374253.5	+	9	863	c.824C>T	c.(823-825)gCc>gTc	p.A275V	CNKSR1_ENST00000361530.6_Missense_Mutation_p.A268V|CNKSR1_ENST00000531191.1_Missense_Mutation_p.A10V	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	275	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CGGGAGCCAGCCGGACTCAGC	0.632																																					NSCLC(180;1396 2109 28270 30756 34275)	ENST00000531191.1																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(28-30)gCc>gTc		connector enhancer of kinase suppressor of Ras 1							75.0	80.0	78.0					1																	26510269		2203	4300	6503	SO:0001583	missense	10256				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	g.chr1:26510269C>T	AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.824C>T	1.37:g.26510269C>T	ENSP00000363371:p.Ala275Val					CNKSR1_ENST00000374253.5_Missense_Mutation_p.A275V|CNKSR1_ENST00000361530.6_Missense_Mutation_p.A268V	p.A10V			Q969H4	CNKR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)	8	1036	+		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	275			SAM.		B1AMW9|O95381	Missense_Mutation	SNP	ENST00000374253.5	37	c.29C>T		.	.	.	.	.	.	.	.	.	.	C	10.02	1.236288	0.22626	.	.	ENSG00000142675	ENST00000361530;ENST00000374253;ENST00000531191	T;T;T	0.15487	2.47;2.46;2.42	4.87	1.89	0.25635	PDZ/DHR/GLGF (1);	0.416158	0.26571	N	0.023626	T	0.19446	0.0467	M	0.63843	1.955	0.09310	N	1	P;P	0.50443	0.935;0.935	P;P	0.48368	0.575;0.478	T	0.11743	-1.0575	10	0.54805	T	0.06	-2.579	3.2146	0.06695	0.3946:0.3836:0.1355:0.0863	.	275;268	Q969H4;Q53GM7	CNKR1_HUMAN;.	V	268;275;10	ENSP00000354609:A268V;ENSP00000363371:A275V;ENSP00000431817:A10V	ENSP00000354609:A268V	A	+	2	0	CNKSR1	26382856	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.410000	0.07151	0.232000	0.21100	-0.136000	0.14681	GCC		0.632	CNKSR1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000089943.2	NM_006314		4	98	0	0	0	1	0	4	98				
LOC101927079	101927079	broad.mit.edu	37	15	22332492	22332492	+	RNA	SNP	A	A	C	rs540968052		TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr15:22332492A>C	ENST00000558896.1	+	0	299																											TATTTCTCTTATTACTATTTT	0.383																																						ENST00000558896.1																			0																																																			101927079							g.chr15:22332492A>C																													15.37:g.22332492A>C														0	299	+									RNA	SNP	ENST00000558896.1	37																																																																																						0.383	RP11-69H14.6-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000417625.1			3	74	0	0	0	1	0	3	74				
GBA	2629	broad.mit.edu	37	1	155205614	155205614	+	Missense_Mutation	SNP	C	C	T	rs121908311		TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr1:155205614C>T	ENST00000327247.5	-	10	1478	c.1246G>A	c.(1246-1248)Ggc>Agc	p.G416S	GBA_ENST00000428024.3_Missense_Mutation_p.G329S|GBA_ENST00000536770.1_Missense_Mutation_p.G303S|GBA_ENST00000427500.3_Missense_Mutation_p.G367S|GBA_ENST00000493842.1_5'Flank|GBA_ENST00000368373.3_Missense_Mutation_p.G416S|AL713999.1_ENST00000401290.1_RNA	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	416			G -> S (in GD; mild). {ECO:0000269|PubMed:10447266, ECO:0000269|PubMed:10796875}.		carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glucosylceramide catabolic process (GO:0006680)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of MAP kinase activity (GO:0043407)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of water loss via skin (GO:0033561)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to pH (GO:0009268)|response to testosterone (GO:0033574)|response to thyroid hormone (GO:0097066)|skin morphogenesis (GO:0043589)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)|termination of signal transduction (GO:0023021)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)	glucosylceramidase activity (GO:0004348)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Velaglucerase alfa(DB06720)	TCGGTCCAGCCGACCACATGG	0.547									Gaucher disease type I																													ENST00000428024.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	GRCh37	CM940812	GBA	M	rs121908311	c.(985-987)Ggc>Agc		glucosidase, beta, acid	Alglucerase(DB00088)|Imiglucerase(DB00053)						81.0	72.0	75.0					1																	155205614		2203	4300	6503	SO:0001583	missense	2629	Gaucher disease type I	Familial Cancer Database	glucocerebrosidase insufficiency	carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding	g.chr1:155205614C>T	M19285	CCDS1102.1, CCDS53373.1, CCDS53374.1	1q22	2010-01-19	2010-01-19		ENSG00000177628	ENSG00000177628	3.2.1.21		4177	protein-coding gene	gene with protein product		606463	"""glucosylceramidase"", ""glucosidase, beta; acid (includes glucosylceramidase)"""	GLUC		3359914	Standard	NM_001005742		Approved	GBA1	uc001fjl.3	P04062	OTTHUMG00000035841	ENST00000327247.5:c.1246G>A	1.37:g.155205614C>T	ENSP00000314508:p.Gly416Ser					GBA_ENST00000536770.1_Missense_Mutation_p.G303S|GBA_ENST00000427500.2_Missense_Mutation_p.G367S|GBA_ENST00000327247.5_Missense_Mutation_p.G416S|GBA_ENST00000368373.3_Missense_Mutation_p.G416S	p.G329S	NM_001171811.1	NP_001165282.1	P04062	GLCM_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		8	1487	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		416					A8K796|B7Z5G2|B7Z6S1|J3KQG4|J3KQK9|Q16545|Q4VX22|Q6I9R6|Q9UMJ8	Missense_Mutation	SNP	ENST00000327247.5	37	c.985G>A	CCDS1102.1	.	.	.	.	.	.	.	.	.	.	.	27.7	4.858354	0.91433	.	.	ENSG00000177628	ENST00000427500;ENST00000428024;ENST00000368373;ENST00000327247;ENST00000536770;ENST00000536555;ENST00000402928	D;D;D;D;D	0.99724	-6.54;-6.54;-6.54;-6.54;-6.54	3.53	3.53	0.40419	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.64402	D	0.000002	D	0.99658	0.9873	M	0.87682	2.9	0.80722	A	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;0.998	D	0.97647	1.0152	9	0.72032	D	0.01	.	12.9565	0.58430	0.0:1.0:0.0:0.0	.	367;303;416	B7Z5G2;F5H241;P04062	.;.;GLCM_HUMAN	S	367;329;416;416;303;373;401	ENSP00000402577:G367S;ENSP00000397986:G329S;ENSP00000357357:G416S;ENSP00000314508:G416S;ENSP00000445560:G303S	ENSP00000314508:G416S	G	-	1	0	GBA	153472238	0.999000	0.42202	0.911000	0.35937	0.859000	0.49053	4.368000	0.59505	1.969000	0.57287	0.479000	0.44913	GGC		0.547	GBA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087204.1	NM_000157		11	24	0	0	0	1	0	11	24				
CCBL1	883	broad.mit.edu	37	9	131596044	131596044	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr9:131596044T>C	ENST00000302586.3	-	12	1346	c.1184A>G	c.(1183-1185)cAc>cGc	p.H395R	CCBL1_ENST00000320665.6_Missense_Mutation_p.H345R|CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000436267.2_Missense_Mutation_p.H489R	NM_001122671.1|NM_004059.4	NP_001116143.1|NP_004050.3	Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	395					cellular amino acid biosynthetic process (GO:0008652)|cellular modified amino acid metabolic process (GO:0006575)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine catabolic process (GO:0097053)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|glutamine-phenylpyruvate transaminase activity (GO:0047316)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-glutamine:pyruvate aminotransferase activity (GO:0047945)|L-phenylalanine-oxaloacetate transaminase activity (GO:0036141)|L-phenylalanine:pyruvate aminotransferase activity (GO:0047312)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)	GCGGATATAGTGGTCAAAGTG	0.562																																						ENST00000436267.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18						c.(1465-1467)cAc>cGc		cysteine conjugate-beta lyase, cytoplasmic	L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)						53.0	55.0	54.0					9																	131596044		1981	4150	6131	SO:0001583	missense	883				kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr9:131596044T>C	Y17448	CCDS43884.1, CCDS48038.1, CCDS75915.1	9q34.11	2008-03-11	2008-03-11		ENSG00000171097	ENSG00000171097	2.6.1.64		1564	protein-coding gene	gene with protein product	"""glutamine transaminase K"", ""kyneurenine aminotransferase"""	600547	"""cysteine conjugate-beta lyase; cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase)"""			7883047	Standard	NM_001122671		Approved	KATI, GTK	uc004bwh.3	Q16773	OTTHUMG00000020767	ENST00000302586.3:c.1184A>G	9.37:g.131596044T>C	ENSP00000302227:p.His395Arg					CCBL1_ENST00000320665.6_Missense_Mutation_p.H345R|CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000302586.3_Missense_Mutation_p.H395R	p.H489R			Q16773	KAT1_HUMAN			14	1615	-			395					Q5T275|Q8N191	Missense_Mutation	SNP	ENST00000302586.3	37	c.1466A>G	CCDS43884.1	.	.	.	.	.	.	.	.	.	.	T	12.90	2.075493	0.36662	.	.	ENSG00000171097	ENST00000302586;ENST00000320665;ENST00000436267	D;D;D	0.90133	-2.62;-2.62;-2.62	5.46	5.46	0.80206	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.195769	0.51477	D	0.000083	D	0.84723	0.5535	L	0.31420	0.93	0.32244	N	0.572351	P;B;B;B	0.41041	0.736;0.258;0.253;0.258	B;B;B;B	0.42030	0.373;0.141;0.168;0.141	D	0.84854	0.0815	10	0.21540	T	0.41	-21.8508	10.7537	0.46223	0.0:0.0771:0.0:0.9229	.	489;395;345;395	B7Z4W5;A8K563;Q16773-2;Q16773	.;.;.;KAT1_HUMAN	R	395;345;489	ENSP00000302227:H395R;ENSP00000317342:H345R;ENSP00000399415:H489R	ENSP00000302227:H395R	H	-	2	0	CCBL1	130635865	1.000000	0.71417	0.998000	0.56505	0.894000	0.52154	4.284000	0.58983	2.076000	0.62316	0.358000	0.22013	CAC		0.562	CCBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054521.2			29	51	0	0	0	1	0	29	51				
RNF213	57674	broad.mit.edu	37	17	78286919	78286919	+	Silent	SNP	C	C	T	rs146200316	byFrequency	TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr17:78286919C>T	ENST00000582970.1	+	15	2906	c.2763C>T	c.(2761-2763)aaC>aaT	p.N921N	CTD-2047H16.2_ENST00000576808.1_RNA|RNF213_ENST00000508628.2_Silent_p.N970N|RNF213_ENST00000319921.4_Silent_p.N921N|RNF213_ENST00000456466.1_Silent_p.N921N	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	921					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TTACAAAGAACATGCTCACAT	0.468																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(2761-2763)aaC>aaT		ring finger protein 213							129.0	125.0	127.0					17																	78286919		2203	4300	6503	SO:0001819	synonymous_variant	57674							g.chr17:78286919C>T	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.2763C>T	17.37:g.78286919C>T						RNF213_ENST00000508628.2_Silent_p.N970N|RNF213_ENST00000456466.1_Silent_p.N921N|RNF213_ENST00000319921.4_Silent_p.N921N	p.N921N	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		15	2906	+	all_neural(118;0.0538)		921					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	c.2763C>T	CCDS58606.1																																																																																				0.468	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		22	98	0	0	0	1	0	22	98				
ITGB1	3688	broad.mit.edu	37	10	33211203	33211203	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr10:33211203C>G	ENST00000396033.2	-	9	1245	c.1110G>C	c.(1108-1110)ttG>ttC	p.L370F	ITGB1_ENST00000374956.4_Missense_Mutation_p.L370F|ITGB1_ENST00000423113.1_Missense_Mutation_p.L370F|ITGB1_ENST00000302278.3_Missense_Mutation_p.L370F	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	370	VWFA.				axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	CATCAATGATCAACTGAATTA	0.323																																						ENST00000396033.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1108-1110)ttG>ttC		integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)							165.0	149.0	155.0					10																	33211203		2203	4300	6503	SO:0001583	missense	3688				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity	g.chr10:33211203C>G	BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"""CD molecules"", ""Integrins"""	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.1110G>C	10.37:g.33211203C>G	ENSP00000379350:p.Leu370Phe					ITGB1_ENST00000374956.4_Missense_Mutation_p.L370F|ITGB1_ENST00000423113.1_Missense_Mutation_p.L370F|ITGB1_ENST00000302278.3_Missense_Mutation_p.L370F	p.L370F	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN			9	1245	-		Ovarian(717;1.34e-05)|Breast(68;0.0634)	370			VWFA.		A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Missense_Mutation	SNP	ENST00000396033.2	37	c.1110G>C	CCDS7174.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.573651	0.65765	.	.	ENSG00000150093	ENST00000396033;ENST00000423113;ENST00000302278;ENST00000374956	D;D;D;D	0.96427	-4.01;-4.01;-4.01;-4.01	5.84	4.92	0.64577	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.063675	0.64402	D	0.000007	D	0.98729	0.9573	H	0.96430	3.82	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;0.998;0.999	D	0.99544	1.0964	10	0.87932	D	0	.	15.3793	0.74641	0.0:0.9325:0.0:0.0675	.	370;370;370;370;370	P05556-2;P05556;P05556-5;P05556-3;P05556-4	.;ITB1_HUMAN;.;.;.	F	370	ENSP00000379350:L370F;ENSP00000388694:L370F;ENSP00000303351:L370F;ENSP00000364094:L370F	ENSP00000303351:L370F	L	-	3	2	ITGB1	33251209	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.641000	0.37197	1.457000	0.47850	0.655000	0.94253	TTG		0.323	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211		17	30	0	0	0	1	0	17	30				
DEPDC5	9681	broad.mit.edu	37	22	32253484	32253484	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr22:32253484C>T	ENST00000382112.3	+	31	3252	c.3182C>T	c.(3181-3183)tCa>tTa	p.S1061L	DEPDC5_ENST00000382111.2_Missense_Mutation_p.S1070L|DEPDC5_ENST00000400246.1_Missense_Mutation_p.S1070L|DEPDC5_ENST00000400248.2_Missense_Mutation_p.S1061L|DEPDC5_ENST00000494060.1_3'UTR|DEPDC5_ENST00000535622.1_Missense_Mutation_p.S992L|DEPDC5_ENST00000539165.1_5'UTR|DEPDC5_ENST00000382105.2_Missense_Mutation_p.S992L|DEPDC5_ENST00000266091.3_Missense_Mutation_p.S1070L|DEPDC5_ENST00000400249.2_Missense_Mutation_p.S1061L	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	1070					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TCCGCCCAGTCAGCCGAGAGC	0.592																																						ENST00000400246.1																			0				breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(3208-3210)tCa>tTa		DEP domain containing 5							34.0	37.0	36.0					22																	32253484		2139	4260	6399	SO:0001583	missense	9681				intracellular signal transduction			g.chr22:32253484C>T	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.3182C>T	22.37:g.32253484C>T	ENSP00000371546:p.Ser1061Leu					DEPDC5_ENST00000382112.3_Missense_Mutation_p.S1061L|DEPDC5_ENST00000539165.1_5'UTR|DEPDC5_ENST00000400249.2_Missense_Mutation_p.S1061L|DEPDC5_ENST00000494060.1_3'UTR|DEPDC5_ENST00000535622.1_Missense_Mutation_p.S992L|DEPDC5_ENST00000382105.2_Missense_Mutation_p.S992L|DEPDC5_ENST00000382111.2_Missense_Mutation_p.S1070L|DEPDC5_ENST00000266091.3_Missense_Mutation_p.S1070L|DEPDC5_ENST00000400248.1_Missense_Mutation_p.S1061L	p.S1070L			O75140	DEPD5_HUMAN			32	3351	+			1061					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	c.3209C>T	CCDS46692.1	.	.	.	.	.	.	.	.	.	.	C	10.41	1.341430	0.24339	.	.	ENSG00000100150	ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	T;T;T;T;T;T;T;T	0.30714	1.52;1.93;1.94;1.97;1.56;1.99;1.97;1.94	5.57	5.57	0.84162	.	0.690093	0.14935	N	0.289855	T	0.19765	0.0475	N	0.14661	0.345	0.53688	D	0.999978	B;B;B;B;B;B;B	0.25312	0.123;0.001;0.004;0.002;0.004;0.001;0.002	B;B;B;B;B;B;B	0.26969	0.075;0.002;0.005;0.007;0.006;0.002;0.001	T	0.08289	-1.0729	10	0.28530	T	0.3	.	11.5756	0.50860	0.0:0.918:0.0:0.082	.	391;1070;992;456;1070;1061;1061	B4DSS1;B9EGN9;B4DH93;O75140-7;O75140-4;A8MPX9;O75140	.;.;.;.;.;.;DEPD5_HUMAN	L	992;1070;1061;992;1070;992;1061;1070;1061	ENSP00000440210:S992L;ENSP00000266091:S1070L;ENSP00000383108:S1061L;ENSP00000383105:S1070L;ENSP00000371539:S992L;ENSP00000371546:S1061L;ENSP00000371545:S1070L;ENSP00000383107:S1061L	ENSP00000266091:S1070L	S	+	2	0	DEPDC5	30583484	0.012000	0.17670	0.084000	0.20598	0.956000	0.61745	2.069000	0.41481	2.618000	0.88619	0.563000	0.77884	TCA		0.592	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		8	11	0	0	0	1	0	8	11				
PAX1	5075	broad.mit.edu	37	20	21687662	21687662	+	Silent	SNP	G	G	A	rs199575819		TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr20:21687662G>A	ENST00000398485.2	+	2	927	c.873G>A	c.(871-873)tcG>tcA	p.S291S	PAX1_ENST00000444366.2_Silent_p.S267S|PAX1_ENST00000460221.1_3'UTR	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	291					bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CGGCACACTCGGTCAGCAACA	0.677																																						ENST00000398485.2																			0				autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						c.(871-873)tcG>tcA		paired box 1							23.0	25.0	25.0					20																	21687662		2196	4282	6478	SO:0001819	synonymous_variant	5075				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr20:21687662G>A		CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"""Paired boxes"""	8615	protein-coding gene	gene with protein product		167411	"""paired box gene 1"""			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.873G>A	20.37:g.21687662G>A						PAX1_ENST00000444366.2_Silent_p.S267S|PAX1_ENST00000460221.1_3'UTR	p.S291S	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN			2	927	+			291					B4E0D6|Q642X9|Q6NTC0|Q9Y558	Silent	SNP	ENST00000398485.2	37	c.873G>A	CCDS13146.2																																																																																				0.677	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078282.3			7	35	0	0	0	1	0	7	35				
JMJD1C	221037	broad.mit.edu	37	10	64966598	64966598	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr10:64966598C>T	ENST00000399262.2	-	10	5049	c.4831G>A	c.(4831-4833)Gat>Aat	p.D1611N	JMJD1C_ENST00000399251.1_Missense_Mutation_p.D1392N|JMJD1C_ENST00000542921.1_Missense_Mutation_p.D1429N|JMJD1C_ENST00000402544.1_Missense_Mutation_p.D1392N	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1611					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTGACTTTATCATCTTTTACA	0.333																																						ENST00000399262.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.(4831-4833)Gat>Aat		jumonji domain containing 1C							87.0	79.0	81.0					10																	64966598		1882	4116	5998	SO:0001583	missense	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64966598C>T	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.4831G>A	10.37:g.64966598C>T	ENSP00000382204:p.Asp1611Asn					JMJD1C_ENST00000402544.1_Missense_Mutation_p.D1392N|JMJD1C_ENST00000399251.1_Missense_Mutation_p.D1392N|JMJD1C_ENST00000542921.1_Missense_Mutation_p.D1429N	p.D1611N	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN			10	5049	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		1611					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	c.4831G>A	CCDS41532.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.77|18.77	3.693972|3.693972	0.68386|0.68386	.|.	.|.	ENSG00000171988|ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921|ENST00000327520	T;T;T;T|.	0.56776|.	0.79;0.44;2.23;0.79|.	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	0.164813|.	0.52532|.	D|.	0.000070|.	T|T	0.73241|0.73241	0.3562|0.3562	L|L	0.59436|0.59436	1.845|1.845	0.44762|0.44762	D|D	0.997766|0.997766	P;P;P|.	0.49253|.	0.921;0.921;0.921|.	B;P;P|.	0.47044|.	0.411;0.535;0.535|.	T|T	0.69749|0.69749	-0.5061|-0.5061	10|5	0.72032|.	D|.	0.01|.	-9.7522|-9.7522	19.6295|19.6295	0.95694|0.95694	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1152;1611;1429|.	A6PW35;Q15652;A0T124|.	.;JHD2C_HUMAN;.|.	N|I	1611;1392;1392;1429|296	ENSP00000382204:D1611N;ENSP00000384990:D1392N;ENSP00000382195:D1392N;ENSP00000444682:D1429N|.	ENSP00000382195:D1392N|.	D|M	-|-	1|3	0|0	JMJD1C|JMJD1C	64636604|64636604	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.587000|7.587000	0.82613|0.82613	2.716000|2.716000	0.92895|0.92895	0.585000|0.585000	0.79938|0.79938	GAT|ATG		0.333	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		11	23	0	0	0	1	0	11	23				
USP54	159195	broad.mit.edu	37	10	75286479	75286479	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr10:75286479G>A	ENST00000339859.4	-	15	2220	c.2120C>T	c.(2119-2121)tCg>tTg	p.S707L	USP54_ENST00000428547.1_Missense_Mutation_p.S557L|RNU6-883P_ENST00000384597.1_RNA|USP54_ENST00000408019.1_Missense_Mutation_p.S707L|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000394811.2_5'UTR			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	707					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					ACTGCTGTGCGACTTTGGGAT	0.488																																					Colon(195;880 2046 8854 25025 38456)	ENST00000339859.4																			0				breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30						c.(2119-2121)tCg>tTg		ubiquitin specific peptidase 54							91.0	90.0	91.0					10																	75286479		2028	4178	6206	SO:0001583	missense	159195				ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	g.chr10:75286479G>A	AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.2120C>T	10.37:g.75286479G>A	ENSP00000345216:p.Ser707Leu					USP54_ENST00000428547.1_Missense_Mutation_p.S557L|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000408019.1_Missense_Mutation_p.S707L	p.S707L			Q70EL1	UBP54_HUMAN			15	2220	-	Prostate(51;0.0112)		707					A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Missense_Mutation	SNP	ENST00000339859.4	37	c.2120C>T	CCDS7329.2	.	.	.	.	.	.	.	.	.	.	G	26.4	4.734696	0.89482	.	.	ENSG00000166348	ENST00000339859;ENST00000408019;ENST00000428547	T;T;T	0.37235	1.29;1.29;1.21	5.95	5.95	0.96441	.	0.457229	0.19968	U	0.102048	T	0.60209	0.2251	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.959;0.994	T	0.58364	-0.7649	10	0.66056	D	0.02	-8.2939	18.5553	0.91081	0.0:0.0:1.0:0.0	.	707;707	Q70EL1-6;Q70EL1	.;UBP54_HUMAN	L	707;707;557	ENSP00000345216:S707L;ENSP00000386080:S707L;ENSP00000408714:S557L	ENSP00000345216:S707L	S	-	2	0	USP54	74956485	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	7.218000	0.77991	2.817000	0.96982	0.563000	0.77884	TCG		0.488	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	NM_152586		16	42	0	0	0	1	0	16	42				
NKX6-2	84504	broad.mit.edu	37	10	134598434	134598434	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr10:134598434C>T	ENST00000368592.5	-	3	923	c.820G>A	c.(820-822)Ggg>Agg	p.G274R	RP11-288G11.3_ENST00000441365.2_lincRNA	NM_177400.2	NP_796374	Q9C056	NKX62_HUMAN	NK6 homeobox 2	274					central nervous system myelination (GO:0022010)|endocrine pancreas development (GO:0031018)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of glial cell differentiation (GO:0045686)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cell fate commitment (GO:0010455)|positive regulation of glial cell differentiation (GO:0045687)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(2)	3		all_cancers(35;2.79e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0584)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;4.06e-05)|Epithelial(32;5.53e-05)|all cancers(32;5.99e-05)		AAGGCGTCCCCCGCGCCGCCG	0.652																																						ENST00000368592.5																			0				endometrium(1)|lung(2)	3						c.(820-822)Ggg>Agg		NK6 homeobox 2							32.0	30.0	31.0					10																	134598434		2180	4290	6470	SO:0001583	missense	84504					nucleus	sequence-specific DNA binding transcription factor activity	g.chr10:134598434C>T	AF184215	CCDS7670.1	10q26.3	2012-03-09	2007-07-09		ENSG00000148826	ENSG00000148826		"""Homeoboxes / ANTP class : NKL subclass"""	19321	protein-coding gene	gene with protein product		605955	"""NK6 transcription factor related, locus 2 (Drosophila)"""			11210186	Standard	NM_177400		Approved	NKX6B, GTX, NKX6.1	uc001llr.2	Q9C056	OTTHUMG00000019294	ENST00000368592.5:c.820G>A	10.37:g.134598434C>T	ENSP00000357581:p.Gly274Arg						p.G274R	NM_177400.2	NP_796374.1	Q9C056	NKX62_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;4.06e-05)|Epithelial(32;5.53e-05)|all cancers(32;5.99e-05)	3	923	-		all_cancers(35;2.79e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0584)|Melanoma(40;0.123)|Glioma(114;0.203)	274					Q5JSF3	Missense_Mutation	SNP	ENST00000368592.5	37	c.820G>A	CCDS7670.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.330127	0.60743	.	.	ENSG00000148826	ENST00000368592	D	0.91237	-2.81	3.11	3.11	0.35812	.	0.165679	0.38058	U	0.001840	T	0.80363	0.4609	N	0.08118	0	0.37444	D	0.914532	B	0.28026	0.198	B	0.26969	0.075	T	0.81272	-0.1008	10	0.41790	T	0.15	-9.6351	14.3763	0.66879	0.0:1.0:0.0:0.0	.	274	Q9C056	NKX62_HUMAN	R	274	ENSP00000357581:G274R	ENSP00000357581:G274R	G	-	1	0	NKX6-2	134448424	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.985000	0.63845	2.033000	0.60031	0.462000	0.41574	GGG		0.652	NKX6-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051093.2			10	20	0	0	0	1	0	10	20				
PTPRO	5800	broad.mit.edu	37	12	15669842	15669842	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr12:15669842G>A	ENST00000281171.4	+	9	2061	c.1731G>A	c.(1729-1731)tgG>tgA	p.W577*	PTPRO_ENST00000543886.1_Nonsense_Mutation_p.W577*|PTPRO_ENST00000348962.2_Nonsense_Mutation_p.W577*	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	577	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CATCAGAGTGGACCACCTACT	0.448																																						ENST00000281171.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74						c.(1729-1731)tgG>tgA		protein tyrosine phosphatase, receptor type, O							247.0	207.0	221.0					12																	15669842		2203	4300	6503	SO:0001587	stop_gained	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15669842G>A	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.1731G>A	12.37:g.15669842G>A	ENSP00000281171:p.Trp577*					PTPRO_ENST00000543886.1_Nonsense_Mutation_p.W577*|PTPRO_ENST00000348962.2_Nonsense_Mutation_p.W577*	p.W577*	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN			9	2061	+		Hepatocellular(102;0.244)	577			Fibronectin type-III 6.		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Nonsense_Mutation	SNP	ENST00000281171.4	37	c.1731G>A	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	G	38	7.246217	0.98161	.	.	ENSG00000151490	ENST00000281171;ENST00000543886;ENST00000348962	.	.	.	5.17	5.17	0.71159	.	0.000000	0.48286	D	0.000181	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.8635	0.92282	0.0:0.0:1.0:0.0	.	.	.	.	X	577	.	ENSP00000281171:W577X	W	+	3	0	PTPRO	15561109	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.874000	0.92363	2.675000	0.91044	0.637000	0.83480	TGG		0.448	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			20	76	0	0	0	1	0	20	76				
ZNF808	388558	broad.mit.edu	37	19	53058397	53058397	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr19:53058397C>T	ENST00000359798.4	+	5	2408	c.2228C>T	c.(2227-2229)aCg>aTg	p.T743M		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	743					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(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TGCAGCAAGACGTTCAGTCAG	0.458																																						ENST00000359798.4																			0				endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24						c.(2227-2229)aCg>aTg		zinc finger protein 808							189.0	183.0	185.0					19																	53058397		2203	4300	6503	SO:0001583	missense	388558				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53058397C>T	CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"""Zinc fingers, C2H2-type"", ""-"""	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.2228C>T	19.37:g.53058397C>T	ENSP00000352846:p.Thr743Met						p.T743M	NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)	5	2408	+			743					Q68CN7	Missense_Mutation	SNP	ENST00000359798.4	37	c.2228C>T	CCDS46167.1	.	.	.	.	.	.	.	.	.	.	.	11.66	1.705378	0.30232	.	.	ENSG00000198482	ENST00000359798	T	0.36340	1.26	1.51	1.51	0.23008	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47284	0.1437	L	0.53617	1.68	0.09310	N	1	D	0.64830	0.994	P	0.61874	0.895	T	0.22871	-1.0204	9	0.87932	D	0	.	7.0378	0.25002	0.0:0.4915:0.5085:0.0	.	743	Q8N4W9	ZN808_HUMAN	M	743	ENSP00000352846:T743M	ENSP00000352846:T743M	T	+	2	0	ZNF808	57750209	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-4.531000	0.00220	0.804000	0.34136	0.205000	0.17691	ACG		0.458	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3	NM_001039886		33	99	0	0	0	1	0	33	99				
GIGYF2	26058	broad.mit.edu	37	2	233710572	233710572	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr2:233710572C>G	ENST00000409547.1	+	28	3747	c.3436C>G	c.(3436-3438)Ctt>Gtt	p.L1146V	GIGYF2_ENST00000409196.3_Missense_Mutation_p.L1140V|GIGYF2_ENST00000373566.3_Missense_Mutation_p.L1168V|GIGYF2_ENST00000409480.1_Missense_Mutation_p.L1168V|GIGYF2_ENST00000409451.3_Missense_Mutation_p.L1167V|GIGYF2_ENST00000373563.4_Missense_Mutation_p.L1146V	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1146					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GCTTCATGCCCTTAATACGGC	0.448																																						ENST00000373566.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(3502-3504)Ctt>Gtt		GRB10 interacting GYF protein 2							93.0	89.0	91.0					2																	233710572		2203	4300	6503	SO:0001583	missense	26058				cell death		protein binding	g.chr2:233710572C>G	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.3436C>G	2.37:g.233710572C>G	ENSP00000386537:p.Leu1146Val					GIGYF2_ENST00000409480.1_Missense_Mutation_p.L1168V|GIGYF2_ENST00000409547.1_Missense_Mutation_p.L1146V|GIGYF2_ENST00000409451.3_Missense_Mutation_p.L1167V|GIGYF2_ENST00000409196.3_Missense_Mutation_p.L1140V|GIGYF2_ENST00000373563.4_Missense_Mutation_p.L1146V	p.L1168V			Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	27	3699	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	1146					A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	ENST00000409547.1	37	c.3502C>G	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898599	0.72639	.	.	ENSG00000204120	ENST00000373566;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000409196;ENST00000409451	T;T;T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35;-1.34;-1.35	5.7	5.7	0.88788	.	0.054308	0.85682	D	0.000000	T	0.77935	0.4205	M	0.68593	2.085	0.80722	D	1	P;P;P	0.49253	0.921;0.921;0.921	B;B;B	0.38880	0.284;0.284;0.284	T	0.80741	-0.1247	10	0.51188	T	0.08	-12.2491	14.6572	0.68841	0.1453:0.8547:0.0:0.0	.	1167;1146;1140	A6H8W4;Q6Y7W6;E9PBB0	.;PERQ2_HUMAN;.	V	1168;1146;1168;1146;1140;1167	ENSP00000362667:L1168V;ENSP00000362664:L1146V;ENSP00000386765:L1168V;ENSP00000386537:L1146V;ENSP00000387070:L1140V;ENSP00000387170:L1167V	ENSP00000362664:L1146V	L	+	1	0	GIGYF2	233418816	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.930000	0.70104	2.679000	0.91253	0.655000	0.94253	CTT		0.448	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		17	36	0	0	0	1	0	17	36				
EMILIN2	84034	broad.mit.edu	37	18	2891051	2891051	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr18:2891051C>A	ENST00000254528.3	+	4	1085	c.926C>A	c.(925-927)aCa>aAa	p.T309K		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	309					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		GTGACCATGACAACCAACGAA	0.542																																						ENST00000254528.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48						c.(925-927)aCa>aAa		elastin microfibril interfacer 2							83.0	86.0	85.0					18																	2891051		2203	4300	6503	SO:0001583	missense	84034				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	g.chr18:2891051C>A	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.926C>A	18.37:g.2891051C>A	ENSP00000254528:p.Thr309Lys						p.T309K	NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN		READ - Rectum adenocarcinoma(2;0.1)	4	1085	+			309					B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	ENST00000254528.3	37	c.926C>A	CCDS11828.1	.	.	.	.	.	.	.	.	.	.	C	9.038	0.988963	0.18966	.	.	ENSG00000132205	ENST00000254528	T	0.36878	1.23	5.09	4.19	0.49359	.	0.183655	0.37530	N	0.002051	T	0.28830	0.0715	M	0.64997	1.995	0.27733	N	0.94473	P	0.34977	0.478	B	0.30716	0.119	T	0.20273	-1.0280	10	0.07030	T	0.85	-21.9405	10.7262	0.46070	0.1485:0.7085:0.143:0.0	.	309	Q9BXX0	EMIL2_HUMAN	K	309	ENSP00000254528:T309K	ENSP00000254528:T309K	T	+	2	0	EMILIN2	2881051	0.975000	0.34042	0.837000	0.33122	0.146000	0.21551	2.804000	0.47931	1.229000	0.43630	0.557000	0.71058	ACA		0.542	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048		25	87	1	0	4.26978e-12	1	4.68838e-12	25	87				
DGKZ	8525	broad.mit.edu	37	11	46387882	46387882	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr11:46387882G>A	ENST00000454345.1	+	2	201	c.76G>A	c.(76-78)Gtg>Atg	p.V26M	DGKZ_ENST00000395574.3_Intron|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000525434.1_3'UTR|DGKZ_ENST00000456247.2_Intron|DGKZ_ENST00000527911.1_Intron|DGKZ_ENST00000343674.6_Intron|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000421244.2_Intron|DGKZ_ENST00000318201.8_Intron|DGKZ_ENST00000532868.2_Intron	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	26					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		GCCCAGCAGCGTGGGGCTGCC	0.706																																						ENST00000454345.1																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25						c.(76-78)Gtg>Atg		diacylglycerol kinase, zeta							6.0	8.0	8.0					11																	46387882		1820	3997	5817	SO:0001583	missense	8525				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding	g.chr11:46387882G>A	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"""diacylglycerol kinase, zeta 104kDa"""			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.76G>A	11.37:g.46387882G>A	ENSP00000412178:p.Val26Met					DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000527911.1_Intron|DGKZ_ENST00000532868.2_Intron|DGKZ_ENST00000456247.2_Intron|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000525434.1_3'UTR|DGKZ_ENST00000421244.2_Intron|DGKZ_ENST00000395574.3_Intron|DGKZ_ENST00000343674.6_Intron|DGKZ_ENST00000318201.8_Intron	p.V26M	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN		GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)	2	201	+			26					B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	ENST00000454345.1	37	c.76G>A	CCDS41640.1	.	.	.	.	.	.	.	.	.	.	G	7.695	0.691855	0.15039	.	.	ENSG00000149091	ENST00000454345	T	0.79749	-1.3	4.53	0.136	0.14780	.	1.643480	0.03951	N	0.288568	T	0.66147	0.2760	N	0.19112	0.55	0.52501	D	0.999954	B	0.23185	0.081	B	0.17722	0.019	T	0.58261	-0.7667	10	0.54805	T	0.06	.	2.5763	0.04807	0.2251:0.1246:0.5225:0.1278	.	26	Q13574	DGKZ_HUMAN	M	26	ENSP00000412178:V26M	ENSP00000412178:V26M	V	+	1	0	DGKZ	46344458	0.980000	0.34600	0.142000	0.22268	0.273000	0.26683	1.755000	0.38379	0.116000	0.18110	-0.251000	0.11542	GTG		0.706	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540		6	12	0	0	0	1	0	6	12				
SSPO	23145	broad.mit.edu	37	7	149484847	149484847	+	RNA	SNP	G	G	C			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr7:149484847G>C	ENST00000378016.2	+	0	3669							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCCCCCCGCAGCAGCACTATG	0.657																																						ENST00000378016.2																			0													SCO-spondin							10.0	14.0	13.0					7																	149484847		2016	4155	6171			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149484847G>C	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149484847G>C										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	3669	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.657	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				4	4	0	0	0	1	0	4	4				
GRIK2	2898	broad.mit.edu	37	6	102134198	102134198	+	Silent	SNP	C	C	T			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr6:102134198C>T	ENST00000421544.1	+	6	1411	c.921C>T	c.(919-921)ccC>ccT	p.P307P	GRIK2_ENST00000369138.1_Silent_p.P307P|GRIK2_ENST00000318991.6_Silent_p.P307P|GRIK2_ENST00000369134.4_Silent_p.P258P|GRIK2_ENST00000413795.1_Silent_p.P307P|GRIK2_ENST00000358361.3_Silent_p.P307P|GRIK2_ENST00000369137.3_Silent_p.P307P	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	307					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	CTCCGAAACCCGATTCAGGTT	0.393																																						ENST00000369138.1																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(919-921)ccC>ccT		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						96.0	97.0	97.0					6																	102134198		2203	4300	6503	SO:0001819	synonymous_variant	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102134198C>T		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.921C>T	6.37:g.102134198C>T						GRIK2_ENST00000369137.3_Silent_p.P307P|GRIK2_ENST00000369134.4_Silent_p.P258P|GRIK2_ENST00000358361.3_Silent_p.P307P|GRIK2_ENST00000421544.1_Silent_p.P307P|GRIK2_ENST00000318991.6_Silent_p.P307P|GRIK2_ENST00000413795.1_Silent_p.P307P	p.P307P	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	6	1411	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	307					A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Silent	SNP	ENST00000421544.1	37	c.921C>T	CCDS5048.1																																																																																				0.393	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			15	54	0	0	0	1	0	15	54				
MUC7	4589	broad.mit.edu	37	4	71346803	71346803	+	Silent	SNP	G	G	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr4:71346803G>A	ENST00000304887.5	+	3	532	c.342G>A	c.(340-342)gtG>gtA	p.V114V	MUC7_ENST00000413702.1_Silent_p.V114V|MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Silent_p.V114V	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	114	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			TTCCATCTGTGACTTTCCCAT	0.433																																						ENST00000413702.1																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(340-342)gtG>gtA		mucin 7, secreted							111.0	105.0	107.0					4																	71346803		2203	4300	6503	SO:0001819	synonymous_variant	4589					extracellular region	protein binding	g.chr4:71346803G>A	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.342G>A	4.37:g.71346803G>A						MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Silent_p.V114V|MUC7_ENST00000304887.5_Silent_p.V114V	p.V114V	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	630	+			114			Thr-rich.		Q9UCD7|Q9UCD8	Silent	SNP	ENST00000304887.5	37	c.342G>A	CCDS3541.1																																																																																				0.433	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		34	49	0	0	0	1	0	34	49				
DENND5B	160518	broad.mit.edu	37	12	31540540	31540540	+	Silent	SNP	C	C	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr12:31540540C>A	ENST00000389082.5	-	21	4086	c.3822G>T	c.(3820-3822)gtG>gtT	p.V1274V	DENND5B_ENST00000536562.1_Silent_p.V1309V|DENND5B_ENST00000306833.6_Silent_p.V1309V	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	1274					positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AGTTGGGTTACACATCCACTC	0.502																																						ENST00000389082.5																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(3820-3822)gtG>gtT		DENN/MADD domain containing 5B							97.0	89.0	91.0					12																	31540540		1944	4147	6091	SO:0001819	synonymous_variant	160518					integral to membrane		g.chr12:31540540C>A	AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.3822G>T	12.37:g.31540540C>A						DENND5B_ENST00000306833.6_Silent_p.V1309V|DENND5B_ENST00000536562.1_Silent_p.V1309V	p.V1274V	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN			21	4086	-			1274					B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Silent	SNP	ENST00000389082.5	37	c.3822G>T	CCDS44857.1																																																																																				0.502	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973		5	17	1	0	0.0215528	1	0.0215528	5	17				
KLHL1	57626	broad.mit.edu	37	13	70681494	70681494	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr13:70681494T>A	ENST00000377844.4	-	1	1097	c.338A>T	c.(337-339)cAg>cTg	p.Q113L	KLHL1_ENST00000545028.1_5'UTR|ATXN8OS_ENST00000414504.2_RNA|ATXN8OS_ENST00000424524.1_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	113					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GGCTGGCTGCTGAGTGCCCTG	0.597																																						ENST00000377844.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						c.(337-339)cAg>cTg		kelch-like family member 1							50.0	48.0	49.0					13																	70681494		2203	4300	6503	SO:0001583	missense	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70681494T>A	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.338A>T	13.37:g.70681494T>A	ENSP00000367075:p.Gln113Leu					KLHL1_ENST00000545028.1_5'UTR|ATXN8OS_ENST00000414504.2_RNA	p.Q113L	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	1	1097	-		Breast(118;0.000162)	113					A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	c.338A>T	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	T	12.11	1.840496	0.32513	.	.	ENSG00000150361	ENST00000377844	T	0.71579	-0.58	5.13	-0.92	0.10475	.	1.049680	0.07603	N	0.923923	T	0.54062	0.1835	N	0.22421	0.69	0.80722	D	1	B;B	0.12013	0.005;0.005	B;B	0.11329	0.004;0.006	T	0.43718	-0.9374	10	0.07990	T	0.79	.	13.8024	0.63208	0.0:0.0:0.6891:0.3109	.	113;113	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	L	113	ENSP00000367075:Q113L	ENSP00000367075:Q113L	Q	-	2	0	KLHL1	69579495	0.989000	0.36119	0.982000	0.44146	0.962000	0.63368	0.464000	0.21988	-0.043000	0.13513	-0.313000	0.08912	CAG		0.597	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		13	49	0	0	0	1	0	13	49				
PRUNE2	158471	broad.mit.edu	37	9	79319910	79319910	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr9:79319910G>A	ENST00000376718.3	-	8	7403	c.7280C>T	c.(7279-7281)gCa>gTa	p.A2427V	PRUNE2_ENST00000428286.1_Missense_Mutation_p.A2068V	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2427					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CACTATCTCTGCTGCTCTGCA	0.502											OREG0019258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(6202-6204)gCa>gTa		prune homolog 2 (Drosophila)							50.0	44.0	46.0					9																	79319910		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79319910G>A	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.7280C>T	9.37:g.79319910G>A	ENSP00000365908:p.Ala2427Val		OREG0019258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1190	PRUNE2_ENST00000376718.3_Missense_Mutation_p.A2427V	p.A2068V			Q8WUY3	PRUN2_HUMAN			8	7403	-			2427					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.6203C>T	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	G	8.616	0.890299	0.17613	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.47869	0.83;0.83	5.93	3.88	0.44766	.	0.455403	0.20894	N	0.083762	T	0.45816	0.1361	L	0.59436	1.845	0.18873	N	0.999988	B	0.17038	0.02	B	0.16289	0.015	T	0.47086	-0.9144	10	0.59425	D	0.04	-4.5994	14.3198	0.66479	0.0:0.0:0.7195:0.2805	.	2427	Q8WUY3	PRUN2_HUMAN	V	2427;2068;2426	ENSP00000365908:A2427V;ENSP00000397425:A2068V	ENSP00000365908:A2427V	A	-	2	0	PRUNE2	78509730	0.622000	0.27085	0.080000	0.20451	0.213000	0.24496	1.010000	0.29898	1.460000	0.47911	0.655000	0.94253	GCA		0.502	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		3	27	0	0	0	1	0	3	27				
LOC645752	645752	broad.mit.edu	37	15	78212571	78212571	+	lincRNA	SNP	G	G	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr15:78212571G>A	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							CCTGTGTCACGTGTGCGTTCA	0.572																																						ENST00000565869.1																			0																																																			645752							g.chr15:78212571G>A																													15.37:g.78212571G>A						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.572	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			4	51	0	0	0	1	0	4	51				
FOS	2353	broad.mit.edu	37	14	75745804	75745804	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr14:75745804T>C	ENST00000303562.4	+	1	328	c.119T>C	c.(118-120)aTg>aCg	p.M40T	FOS_ENST00000556324.2_3'UTR|FOS_ENST00000555686.1_5'Flank|FOS_ENST00000535987.1_Missense_Mutation_p.M40T|FOS_ENST00000554617.1_Missense_Mutation_p.M40T|FOS_ENST00000555347.1_5'Flank|FOS_ENST00000555242.1_Missense_Mutation_p.M40T	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN	FBJ murine osteosarcoma viral oncogene homolog	40					aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hormone stimulus (GO:0032870)|cellular response to reactive oxygen species (GO:0034614)|conditioned taste aversion (GO:0001661)|DNA methylation (GO:0006306)|Fc-epsilon receptor signaling pathway (GO:0038095)|female pregnancy (GO:0007565)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gravity (GO:0009629)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|skeletal muscle cell differentiation (GO:0035914)|sleep (GO:0030431)|SMAD protein signal transduction (GO:0060395)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	double-stranded DNA binding (GO:0003690)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)	Nadroparin(DB08813)|Pseudoephedrine(DB00852)	TTCTCCAGCATGGGCTCGCCT	0.692																																						ENST00000303562.4																			0				central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(118-120)aTg>aCg		FBJ murine osteosarcoma viral oncogene homolog							47.0	44.0	45.0					14																	75745804		2202	4300	6502	SO:0001583	missense	2353				cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway		protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr14:75745804T>C	K00650	CCDS9841.1	14q24.3	2013-01-10	2009-07-23			ENSG00000170345		"""basic leucine zipper proteins"""	3796	protein-coding gene	gene with protein product		164810	"""v-fos FBJ murine osteosarcoma viral oncogene homolog"""			16123044, 16055710, 15926923	Standard	NM_005252		Approved	c-fos, AP-1	uc001xrn.3	P01100		ENST00000303562.4:c.119T>C	14.37:g.75745804T>C	ENSP00000306245:p.Met40Thr					FOS_ENST00000555242.1_Missense_Mutation_p.M40T|FOS_ENST00000556324.2_3'UTR|FOS_ENST00000554617.1_Missense_Mutation_p.M40T|FOS_ENST00000535987.1_Missense_Mutation_p.M40T	p.M40T	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0117)	1	328	+		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)	40					A8K4E2|B4DQ65|P18849	Missense_Mutation	SNP	ENST00000303562.4	37	c.119T>C	CCDS9841.1	.	.	.	.	.	.	.	.	.	.	T	11.95	1.791947	0.31685	.	.	ENSG00000170345	ENST00000303562;ENST00000554617;ENST00000554212;ENST00000535987;ENST00000555242	T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68	5.46	5.46	0.80206	.	0.043558	0.85682	D	0.000000	T	0.47284	0.1437	M	0.70595	2.14	0.80722	D	1	B;P	0.43477	0.275;0.808	B;B	0.36289	0.221;0.16	T	0.55711	-0.8098	10	0.54805	T	0.06	-0.0015	15.3762	0.74607	0.0:0.0:0.0:1.0	.	40;40	B4DQ65;P01100	.;FOS_HUMAN	T	40	ENSP00000306245:M40T;ENSP00000450519:M40T;ENSP00000452443:M40T;ENSP00000442268:M40T;ENSP00000452386:M40T	ENSP00000306245:M40T	M	+	2	0	FOS	74815557	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	6.504000	0.73704	2.293000	0.77203	0.533000	0.62120	ATG		0.692	FOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415044.1	NM_005252		14	51	0	0	0	1	0	14	51				
IFNA14	3448	broad.mit.edu	37	9	21239756	21239756	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr9:21239756T>C	ENST00000380222.2	-	1	222	c.179A>G	c.(178-180)gAa>gGa	p.E60G		NM_002172.2	NP_002163.2	P01570	IFN14_HUMAN	interferon, alpha 14	60					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CTGGGGAAATTCAAAGTCATG	0.473																																						ENST00000380222.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11						c.(178-180)gAa>gGa		interferon, alpha 14							118.0	120.0	119.0					9																	21239756		2203	4300	6503	SO:0001583	missense	3448				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21239756T>C		CCDS6501.1	9p22	2010-08-24			ENSG00000228083	ENSG00000228083		"""Interferons"""	5420	protein-coding gene	gene with protein product		147579				1385305	Standard	NM_002172		Approved	LEIF2H, IFN-alphaH	uc010mis.3	P01570	OTTHUMG00000019665	ENST00000380222.2:c.179A>G	9.37:g.21239756T>C	ENSP00000369571:p.Glu60Gly						p.E60G	NM_002172.2	NP_002163.2	P01570	IFN14_HUMAN		Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	222	-			60					Q5VZ56|Q7M4S1	Missense_Mutation	SNP	ENST00000380222.2	37	c.179A>G	CCDS6501.1	.	.	.	.	.	.	.	.	.	.	t	0.012	-1.681109	0.00745	.	.	ENSG00000228083	ENST00000380222	T	0.03330	3.97	3.38	-4.85	0.03142	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	2.190520	0.01596	N	0.021789	T	0.01320	0.0043	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43556	-0.9384	10	0.02654	T	1	.	6.026	0.19656	0.0:0.1652:0.3974:0.4374	.	60	P01570	IFN14_HUMAN	G	60	ENSP00000369571:E60G	ENSP00000369571:E60G	E	-	2	0	IFNA14	21229756	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-2.282000	0.01156	-0.897000	0.03910	-0.554000	0.04202	GAA		0.473	IFNA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051894.1	NM_002172		4	168	0	0	0	1	0	4	168				
LRRC8A	56262	broad.mit.edu	37	9	131670684	131670684	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr9:131670684A>T	ENST00000259324.5	+	3	1764	c.1241A>T	c.(1240-1242)gAc>gTc	p.D414V	LRRC8A_ENST00000372599.3_Missense_Mutation_p.D414V|LRRC8A_ENST00000372600.4_Missense_Mutation_p.D414V	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	414					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						TGGACGCTGGACAAGCTCCGG	0.592																																						ENST00000259324.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						c.(1240-1242)gAc>gTc		leucine rich repeat containing 8 family, member A							60.0	56.0	57.0					9																	131670684		2203	4300	6503	SO:0001583	missense	56262				pre-B cell differentiation	integral to membrane		g.chr9:131670684A>T	AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"""leucine rich repeat containing 8"""	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.1241A>T	9.37:g.131670684A>T	ENSP00000259324:p.Asp414Val					LRRC8A_ENST00000372600.4_Missense_Mutation_p.D414V|LRRC8A_ENST00000372599.3_Missense_Mutation_p.D414V	p.D414V	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN			3	1764	+			414					Q6UXM2|Q8NCI0|Q9P2B1	Missense_Mutation	SNP	ENST00000259324.5	37	c.1241A>T	CCDS35155.1	.	.	.	.	.	.	.	.	.	.	A	14.07	2.425644	0.43020	.	.	ENSG00000136802	ENST00000372600;ENST00000372599;ENST00000259324	T;T;T	0.20200	2.09;2.09;2.09	5.21	5.21	0.72293	.	0.138730	0.64402	D	0.000004	T	0.14141	0.0342	N	0.11064	0.09	0.80722	D	1	B	0.26258	0.145	B	0.28011	0.085	T	0.09207	-1.0685	10	0.72032	D	0.01	.	14.5585	0.68118	1.0:0.0:0.0:0.0	.	414	Q8IWT6	LRC8A_HUMAN	V	414	ENSP00000361682:D414V;ENSP00000361680:D414V;ENSP00000259324:D414V	ENSP00000259324:D414V	D	+	2	0	LRRC8A	130710505	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.287000	0.95975	2.098000	0.63641	0.459000	0.35465	GAC		0.592	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2	NM_019594		21	100	0	0	0	1	0	21	100				
NBEAL1	65065	broad.mit.edu	37	2	204034488	204034488	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr2:204034488A>G	ENST00000449802.1	+	38	6262	c.5929A>G	c.(5929-5931)Agc>Ggc	p.S1977G		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1977										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CAAAATATATAGCCGACTGTT	0.333																																						ENST00000449802.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(5929-5931)Agc>Ggc		neurobeachin-like 1							85.0	75.0	78.0					2																	204034488		1807	4072	5879	SO:0001583	missense	65065						binding	g.chr2:204034488A>G	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.5929A>G	2.37:g.204034488A>G	ENSP00000399903:p.Ser1977Gly						p.S1977G	NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN			38	6262	+			1977					A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	c.5929A>G	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	A	18.42	3.619838	0.66787	.	.	ENSG00000144426	ENST00000449802;ENST00000340268;ENST00000414576	T;T	0.56941	0.43;0.91	5.28	5.28	0.74379	PH-BEACH domain (1);	0.038859	0.85682	D	0.000000	T	0.71962	0.3402	M	0.79475	2.455	0.58432	D	0.999999	D;D	0.71674	0.998;0.998	D;D	0.73380	0.98;0.98	T	0.73467	-0.3973	10	0.42905	T	0.14	.	15.153	0.72717	1.0:0.0:0.0:0.0	.	1977;1966	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	G	1977;1977;24	ENSP00000399903:S1977G;ENSP00000388466:S24G	ENSP00000344985:S1977G	S	+	1	0	NBEAL1	203742733	1.000000	0.71417	1.000000	0.80357	0.674000	0.39518	5.960000	0.70348	2.119000	0.64992	0.533000	0.62120	AGC		0.333	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			3	55	0	0	0	1	0	3	55				
SLC6A13	6540	broad.mit.edu	37	12	330229	330229	+	Missense_Mutation	SNP	C	C	T	rs141229734		TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr12:330229C>T	ENST00000343164.4	-	15	1746	c.1694G>A	c.(1693-1695)cGt>cAt	p.R565H	SLC6A13_ENST00000539668.1_5'Flank|SLC6A13_ENST00000445055.2_Missense_Mutation_p.R473H	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	565					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			CATGAGCTGACGGATTCTCTG	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		17974	0.001		0.0	False		,,,				2504	0.0					ENST00000343164.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28						c.(1693-1695)cGt>cAt		solute carrier family 6 (neurotransmitter transporter), member 13		C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	49.0	56.0	54.0		1418,1694	2.4	1.0	12	dbSNP_134	54	0,8600		0,0,4300	yes	missense,missense	SLC6A13	NM_001190997.2,NM_016615.4	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	473/511,565/603	330229	1,13005	2203	4300	6503	SO:0001583	missense	6540				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:330229C>T	U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"""Solute carriers"""	11046	protein-coding gene	gene with protein product	"""GABA transporter 2"""	615097	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 13"""				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.1694G>A	12.37:g.330229C>T	ENSP00000339260:p.Arg565His					SLC6A13_ENST00000445055.2_Missense_Mutation_p.R473H	p.R565H	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)		15	1746	-	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		565					B4DJL1|Q8TCC2|Q8WW56	Missense_Mutation	SNP	ENST00000343164.4	37	c.1694G>A	CCDS8502.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	11.11	1.542745	0.27563	2.27E-4	0.0	ENSG00000010379	ENST00000445055;ENST00000313154;ENST00000343164	T;T	0.74421	-0.8;-0.84	4.32	2.43	0.29744	.	0.555420	0.18263	N	0.146579	T	0.56262	0.1973	N	0.19112	0.55	0.52501	D	0.999954	B;B;B	0.18461	0.028;0.007;0.009	B;B;B	0.13407	0.009;0.004;0.002	T	0.52358	-0.8586	10	0.44086	T	0.13	.	7.9679	0.30111	0.0:0.737:0.0:0.263	.	473;544;565	B4DJL1;B4DJS3;Q9NSD5	.;.;S6A13_HUMAN	H	473;544;565	ENSP00000407104:R473H;ENSP00000339260:R565H	ENSP00000318097:R544H	R	-	2	0	SLC6A13	200490	0.993000	0.37304	0.997000	0.53966	0.554000	0.35429	0.200000	0.17257	1.039000	0.40074	0.448000	0.29417	CGT		0.652	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397801.1	NM_016615		5	35	0	0	0	1	0	5	35				
PTPRT	11122	broad.mit.edu	37	20	40710554	40710554	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr20:40710554G>A	ENST00000373187.1	-	30	4239	c.4240C>T	c.(4240-4242)Cgt>Tgt	p.R1414C	PTPRT_ENST00000373201.1_Missense_Mutation_p.R1404C|PTPRT_ENST00000373184.1_Missense_Mutation_p.R1424C|PTPRT_ENST00000373193.3_Missense_Mutation_p.R1417C|PTPRT_ENST00000373190.1_Missense_Mutation_p.R1413C|PTPRT_ENST00000373198.4_Missense_Mutation_p.R1433C|PTPRT_ENST00000356100.2_Missense_Mutation_p.R1423C			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1414	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TTGTTGTTACGCAGTGTTTTC	0.507																																						ENST00000373198.3																			0				NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176						c.(4306-4308)Cgt>Tgt		protein tyrosine phosphatase, receptor type, T							187.0	188.0	188.0					20																	40710554		2089	4221	6310	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40710554G>A	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.4240C>T	20.37:g.40710554G>A	ENSP00000362283:p.Arg1414Cys					PTPRT_ENST00000373187.1_Missense_Mutation_p.R1414C|PTPRT_ENST00000356100.2_Missense_Mutation_p.R1423C|PTPRT_ENST00000373193.3_Missense_Mutation_p.R1417C|PTPRT_ENST00000373190.1_Missense_Mutation_p.R1413C|PTPRT_ENST00000373201.1_Missense_Mutation_p.R1404C|PTPRT_ENST00000373184.1_Missense_Mutation_p.R1424C	p.R1436C	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN			31	4541	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	1414			Tyrosine-protein phosphatase 2.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.4306C>T	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.771629	0.69992	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	D;D;D;D;D;D;D	0.91577	-2.87;-2.87;-2.87;-2.87;-2.87;-2.87;-2.87	6.07	1.52	0.23074	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.96747	0.8938	H	0.96604	3.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97781	1.0232	10	0.87932	D	0	.	15.8823	0.79213	0.0:0.0:0.4285:0.5715	.	1436;1414	O14522-1;O14522	.;PTPRT_HUMAN	C	1413;1414;1417;1423;1436;1424;1404	ENSP00000362286:R1413C;ENSP00000362283:R1414C;ENSP00000362289:R1417C;ENSP00000348408:R1423C;ENSP00000362294:R1436C;ENSP00000362280:R1424C;ENSP00000362297:R1404C	ENSP00000348408:R1423C	R	-	1	0	PTPRT	40143968	1.000000	0.71417	0.031000	0.17742	0.943000	0.58893	2.352000	0.44080	0.371000	0.24564	0.655000	0.94253	CGT		0.507	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			20	60	0	0	0	1	0	20	60				
TGFBRAP1	9392	broad.mit.edu	37	2	105892032	105892032	+	Silent	SNP	C	C	T			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr2:105892032C>T	ENST00000393359.2	-	8	2076	c.1650G>A	c.(1648-1650)ctG>ctA	p.L550L	TGFBRAP1_ENST00000258449.1_Silent_p.L550L			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	550					intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CACTTTTCTGCAGGACCCAAT	0.463																																					Esophageal Squamous(183;794 2019 9730 21801 48859)	ENST00000393359.2																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						c.(1648-1650)ctG>ctA		transforming growth factor, beta receptor associated protein 1							125.0	113.0	117.0					2																	105892032		2203	4300	6503	SO:0001819	synonymous_variant	9392				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding	g.chr2:105892032C>T	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.1650G>A	2.37:g.105892032C>T						TGFBRAP1_ENST00000258449.1_Silent_p.L550L	p.L550L			Q8WUH2	TGFA1_HUMAN			8	2076	-			550					A8K5R7|D3DVJ8|O60466	Silent	SNP	ENST00000393359.2	37	c.1650G>A	CCDS2067.1	.	.	.	.	.	.	.	.	.	.	C	8.268	0.812808	0.16537	.	.	ENSG00000135966	ENST00000543724	.	.	.	5.61	0.743	0.18347	.	.	.	.	.	T	0.63593	0.2524	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61277	-0.7095	5	0.52906	T	0.07	-16.559	10.434	0.44424	0.0:0.5783:0.0:0.4217	.	.	.	.	Y	6	.	ENSP00000446185:C6Y	C	-	2	0	TGFBRAP1	105258464	0.689000	0.27690	0.316000	0.25252	0.921000	0.55340	-0.096000	0.11059	-0.150000	0.11195	0.655000	0.94253	TGC		0.463	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257		4	70	0	0	0	1	0	4	70				
DDX60L	91351	broad.mit.edu	37	4	169342916	169342916	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr4:169342916C>T	ENST00000511577.1	-	17	2636	c.2389G>A	c.(2389-2391)Gca>Aca	p.A797T	DDX60L_ENST00000505890.1_Missense_Mutation_p.A797T|DDX60L_ENST00000260184.7_Missense_Mutation_p.A797T			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	797	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.						ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		ACTACCTTTGCGGGTGCAACG	0.458																																						ENST00000511577.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(2389-2391)Gca>Aca		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							203.0	206.0	205.0					4																	169342916		2203	4300	6503	SO:0001583	missense	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169342916C>T	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.2389G>A	4.37:g.169342916C>T	ENSP00000422423:p.Ala797Thr					DDX60L_ENST00000505890.1_Missense_Mutation_p.A797T|DDX60L_ENST00000260184.7_Missense_Mutation_p.A797T	p.A797T			Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	17	2636	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	797			Helicase ATP-binding.		Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	37	c.2389G>A		.	.	.	.	.	.	.	.	.	.	C	0.005	-2.196440	0.00299	.	.	ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890;ENST00000505863	T;T;T;T	0.65916	-0.18;-0.18;1.82;1.82	3.95	1.2	0.21068	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.398556	0.17319	N	0.178569	T	0.13072	0.0317	N	0.00026	-2.665	0.19945	N	0.999948	B;B;B	0.20988	0.05;0.017;0.05	B;B;B	0.08055	0.003;0.003;0.003	T	0.44081	-0.9351	10	0.02654	T	1	.	7.7202	0.28727	0.0:0.1863:0.0:0.8137	.	797;797;797	E9PAP8;D6R906;Q5H9U9	.;.;DDX6L_HUMAN	T	797;797;797;525	ENSP00000260184:A797T;ENSP00000422423:A797T;ENSP00000422202:A797T;ENSP00000421026:A525T	ENSP00000260184:A797T	A	-	1	0	DDX60L	169579491	0.979000	0.34478	0.018000	0.16275	0.000000	0.00434	2.282000	0.43461	0.013000	0.14918	-0.691000	0.03719	GCA		0.458	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		4	161	0	0	0	1	0	4	161				
KCNK9	51305	broad.mit.edu	37	8	140630787	140630787	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr8:140630787C>T	ENST00000520439.1	-	2	902	c.839G>A	c.(838-840)cGg>cAg	p.R280Q	KCNK9_ENST00000523477.1_5'Flank|KCNK9_ENST00000303015.1_Missense_Mutation_p.R280Q	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	280					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	CCGGCTGGGCCGCGGCTCCTC	0.647																																						ENST00000520439.1																			0				NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43						c.(838-840)cGg>cAg		potassium channel, subfamily K, member 9							46.0	52.0	50.0					8																	140630787		2203	4300	6503	SO:0001583	missense	51305					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity	g.chr8:140630787C>T	AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.839G>A	8.37:g.140630787C>T	ENSP00000430676:p.Arg280Gln					KCNK9_ENST00000303015.1_Missense_Mutation_p.R280Q	p.R280Q			Q9NPC2	KCNK9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0855)		2	902	-	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	280					Q2M290|Q540F2	Missense_Mutation	SNP	ENST00000520439.1	37	c.839G>A	CCDS6377.1	.	.	.	.	.	.	.	.	.	.	C	0.040	-1.287109	0.01387	.	.	ENSG00000169427	ENST00000522317;ENST00000303015;ENST00000520439	T;T;T	0.15603	2.41;2.41;2.41	5.76	-0.014	0.13982	.	1.062950	0.07244	N	0.864820	T	0.07098	0.0180	N	0.08118	0	0.22096	N	0.99937	B	0.06786	0.001	B	0.01281	0.0	T	0.41627	-0.9498	10	0.11485	T	0.65	.	4.4337	0.11540	0.0:0.306:0.3146:0.3794	.	280	Q9NPC2	KCNK9_HUMAN	Q	280	ENSP00000429847:R280Q;ENSP00000302166:R280Q;ENSP00000430676:R280Q	ENSP00000302166:R280Q	R	-	2	0	KCNK9	140699969	0.111000	0.22076	0.000000	0.03702	0.002000	0.02628	0.340000	0.19892	-0.017000	0.14103	0.591000	0.81541	CGG		0.647	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378473.1	NM_016601		23	72	0	0	0	1	0	23	72				
CCDC38	120935	broad.mit.edu	37	12	96310926	96310926	+	Silent	SNP	C	C	T	rs376813830		TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr12:96310926C>T	ENST00000344280.3	-	4	842	c.285G>A	c.(283-285)ccG>ccA	p.P95P	CCDC38_ENST00000549752.1_5'Flank	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	95										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ATCTAGGAATCGGAGCAGGAC	0.388													C|||	1	0.000199681	0.0	0.0	5008	,	,		16512	0.001		0.0	False		,,,				2504	0.0					ENST00000344280.3																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(283-285)ccG>ccA		coiled-coil domain containing 38							76.0	73.0	74.0					12																	96310926		2203	4300	6503	SO:0001819	synonymous_variant	120935							g.chr12:96310926C>T	AK097408	CCDS9056.1	12q23.1	2005-11-02				ENSG00000165972			26843	protein-coding gene	gene with protein product							Standard	NM_182496		Approved	FLJ40089	uc001tek.2	Q502W7	OTTHUMG00000170352	ENST00000344280.3:c.285G>A	12.37:g.96310926C>T							p.P95P	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN			4	842	-			95					Q8N835	Silent	SNP	ENST00000344280.3	37	c.285G>A	CCDS9056.1																																																																																				0.388	CCDC38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408634.1	NM_182496		11	32	0	0	0	1	0	11	32				
SNHG14	104472715	broad.mit.edu	37	15	25479402	25479402	+	RNA	SNP	G	G	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr15:25479402G>A	ENST00000453082.2	+	0	1891				SNORD115-36_ENST00000365629.1_RNA|SNORD115-34_ENST00000362441.1_RNA|SNORD115-35_ENST00000365122.1_RNA	NR_003343.1				small nucleolar RNA host gene 14 (non-protein coding)																		TTGGGTCAATGATGAGAACCT	0.493																																						ENST00000453082.2																			0																				335.0	333.0	334.0					15																	25479402		876	1991	2867			104472715							g.chr15:25479402G>A			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25479402G>A						SNORD115-35_ENST00000365122.1_RNA		NR_003343.1						0	1891	+									RNA	SNP	ENST00000453082.2	37																																																																																						0.493	SNHG14-003	KNOWN	non_canonical_TEC|basic	antisense	processed_transcript	OTTHUMT00000126730.2			51	234	0	0	0	1	0	51	234				
TMEM132A	54972	broad.mit.edu	37	11	60702781	60702781	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr11:60702781G>A	ENST00000453848.2	+	10	2052	c.1894G>A	c.(1894-1896)Gac>Aac	p.D632N	TMEM132A_ENST00000005286.4_Missense_Mutation_p.D633N			Q24JP5	T132A_HUMAN	transmembrane protein 132A	632	Binds to HSPA5/GRP78. {ECO:0000250}.					endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						TGTGACGGACGACAAGGTCTC	0.652																																						ENST00000005286.4																			0				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						c.(1897-1899)Gac>Aac		transmembrane protein 132A							43.0	36.0	39.0					11																	60702781		2203	4299	6502	SO:0001583	missense	54972					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:60702781G>A	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.1894G>A	11.37:g.60702781G>A	ENSP00000405823:p.Asp632Asn					TMEM132A_ENST00000453848.2_Missense_Mutation_p.D632N	p.D633N	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN			10	2050	+			632			Binds to HSPA5/GRP78 (By similarity).		Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Missense_Mutation	SNP	ENST00000453848.2	37	c.1897G>A	CCDS44618.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.969380	0.74246	.	.	ENSG00000006118	ENST00000444690;ENST00000453848;ENST00000005286	T;T	0.15834	2.39;2.39	5.19	4.27	0.50696	.	0.595408	0.16616	N	0.206716	T	0.42017	0.1184	M	0.77103	2.36	0.48236	D	0.999611	D;D	0.89917	0.999;1.0	D;D	0.71414	0.915;0.973	T	0.37126	-0.9719	10	0.87932	D	0	.	12.7351	0.57218	0.0811:0.0:0.9188:0.0	.	632;633	Q24JP5;Q24JP5-2	T132A_HUMAN;.	N	383;632;633	ENSP00000405823:D632N;ENSP00000005286:D633N	ENSP00000005286:D633N	D	+	1	0	TMEM132A	60459357	1.000000	0.71417	0.952000	0.39060	0.711000	0.40976	7.949000	0.87791	1.323000	0.45263	0.462000	0.41574	GAC		0.652	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870		6	15	0	0	0	1	0	6	15				
ANKRD17	26057	broad.mit.edu	37	4	73990667	73990667	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr4:73990667G>T	ENST00000358602.4	-	18	3571	c.3455C>A	c.(3454-3456)aCa>aAa	p.T1152K	ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Missense_Mutation_p.T1039K|ANKRD17_ENST00000330838.6_Missense_Mutation_p.T901K	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1152					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGAGAGTGGTGTGTCCTTGGT	0.458																																						ENST00000358602.4																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(3454-3456)aCa>aAa		ankyrin repeat domain 17							150.0	137.0	141.0					4																	73990667		2203	4300	6503	SO:0001583	missense	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73990667G>T	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.3455C>A	4.37:g.73990667G>T	ENSP00000351416:p.Thr1152Lys					ANKRD17_ENST00000509867.2_Missense_Mutation_p.T1039K|ANKRD17_ENST00000330838.6_Missense_Mutation_p.T901K|ANKRD17_ENST00000514252.1_5'UTR	p.T1152K	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		18	3571	-	Breast(15;0.000295)		1152					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	c.3455C>A	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	G	31	5.098038	0.94197	.	.	ENSG00000132466	ENST00000358602;ENST00000330838;ENST00000509867;ENST00000411811	T;T;T	0.27104	1.69;1.69;1.69	5.52	5.52	0.82312	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000001	T	0.64136	0.2571	M	0.93150	3.385	0.58432	D	0.999997	D;D;D;D;D	0.89917	1.0;0.978;0.999;0.985;0.999	D;P;D;P;D	0.85130	0.997;0.647;0.994;0.824;0.958	T	0.74300	-0.3710	10	0.87932	D	0	.	19.0187	0.92903	0.0:0.0:1.0:0.0	.	673;1151;901;1152;1039	B4DR08;O75179-2;G5E964;O75179;E7EUV3	.;.;.;ANR17_HUMAN;.	K	1152;901;1039;1152	ENSP00000351416:T1152K;ENSP00000332265:T901K;ENSP00000427151:T1039K	ENSP00000332265:T901K	T	-	2	0	ANKRD17	74209531	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.864000	0.99589	2.584000	0.87258	0.484000	0.47621	ACA		0.458	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		29	61	1	0	7.11191e-15	1	8.04579e-15	29	61				
NKG7	4818	broad.mit.edu	37	19	51875069	51875069	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr19:51875069G>A	ENST00000221978.5	-	4	639	c.460C>T	c.(460-462)Cac>Tac	p.H154Y	CLDND2_ENST00000291715.1_5'Flank|NKG7_ENST00000600427.1_Missense_Mutation_p.H74Y|CLDND2_ENST00000601435.1_5'Flank|NKG7_ENST00000595217.1_3'UTR	NM_005601.3	NP_005592.1	Q16617	NKG7_HUMAN	natural killer cell granule protein 7	154						integral component of plasma membrane (GO:0005887)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CCGCCACAGTGAGCACCCAGG	0.587																																						ENST00000221978.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						c.(460-462)Cac>Tac		natural killer cell group 7 sequence							143.0	165.0	157.0					19																	51875069		2203	4300	6503	SO:0001583	missense	4818					integral to plasma membrane		g.chr19:51875069G>A		CCDS12830.1	19q13.41	2014-03-07	2014-03-07		ENSG00000105374	ENSG00000105374			7830	protein-coding gene	gene with protein product	"""granule membrane protein 17"""	606008	"""natural killer cell group 7 sequence"""			8458737	Standard	NM_005601		Approved	GIG1, GMP-17	uc002pwj.3	Q16617	OTTHUMG00000182898	ENST00000221978.5:c.460C>T	19.37:g.51875069G>A	ENSP00000221978:p.His154Tyr					NKG7_ENST00000600427.1_Missense_Mutation_p.H74Y|NKG7_ENST00000595217.1_3'UTR	p.H154Y	NM_005601.3	NP_005592.1	Q16617	NKG7_HUMAN		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	4	639	-		all_neural(266;0.0199)	154						Missense_Mutation	SNP	ENST00000221978.5	37	c.460C>T	CCDS12830.1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.433978	0.25813	.	.	ENSG00000105374	ENST00000221978	.	.	.	5.17	1.83	0.25207	.	0.645577	0.13714	N	0.367880	T	0.36880	0.0983	L	0.46157	1.445	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.22103	-1.0226	9	0.27785	T	0.31	-2.1624	8.1559	0.31169	0.2721:0.0:0.7279:0.0	.	154	Q16617	NKG7_HUMAN	Y	154	.	ENSP00000221978:H154Y	H	-	1	0	NKG7	56566881	0.615000	0.27026	0.325000	0.25375	0.064000	0.16182	0.533000	0.23082	0.703000	0.31848	-0.347000	0.07816	CAC		0.587	NKG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464260.2	NM_005601		78	197	0	0	0	1	0	78	197				
KCNA10	3744	broad.mit.edu	37	1	111060949	111060949	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr1:111060949G>T	ENST00000369771.2	-	1	848	c.461C>A	c.(460-462)cCa>cAa	p.P154Q		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	154					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	AACATTGGCTGGGCGCCGAAT	0.448																																						ENST00000369771.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35						c.(460-462)cCa>cAa		potassium voltage-gated channel, shaker-related subfamily, member 10							62.0	67.0	65.0					1																	111060949		2203	4300	6503	SO:0001583	missense	3744					voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	g.chr1:111060949G>T	U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.461C>A	1.37:g.111060949G>T	ENSP00000358786:p.Pro154Gln						p.P154Q	NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	1	848	-		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	154						Missense_Mutation	SNP	ENST00000369771.2	37	c.461C>A	CCDS826.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.096292	0.76870	.	.	ENSG00000143105	ENST00000369771	T	0.77229	-1.08	5.93	5.93	0.95920	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.93449	0.7910	H	0.99261	4.49	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95598	0.8660	10	0.87932	D	0	.	18.895	0.92420	0.0:0.0:1.0:0.0	.	154	Q16322	KCA10_HUMAN	Q	154	ENSP00000358786:P154Q	ENSP00000358786:P154Q	P	-	2	0	KCNA10	110862472	1.000000	0.71417	0.975000	0.42487	0.974000	0.67602	9.869000	0.99810	2.797000	0.96272	0.655000	0.94253	CCA		0.448	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	NM_005549		20	60	1	0	1.56452e-12	1	1.73492e-12	20	60				
TOR1AIP2	163590	broad.mit.edu	37	1	179820453	179820453	+	Missense_Mutation	SNP	G	G	A	rs145359130		TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr1:179820453G>A	ENST00000367612.3	-	4	467	c.80C>T	c.(79-81)gCg>gTg	p.A27V	TOR1AIP2_ENST00000609928.1_Missense_Mutation_p.A27V	NM_145034.4	NP_659471.1	Q9H496	IFG15_HUMAN	torsin A interacting protein 2	0										cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						GGTCTCCTGCGCCTGAGAATT	0.373													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16504	0.0		0.0	False		,,,				2504	0.0					ENST00000367612.3																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						c.(79-81)gCg>gTg		torsin A interacting protein 2		G	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	100.0	101.0	101.0		80,80	0.1	0.0	1	dbSNP_134	101	0,8600		0,0,4300	no	missense,missense	TOR1AIP2	NM_001199260.1,NM_145034.4	64,64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	27/471,27/471	179820453	1,13005	2203	4300	6503	SO:0001583	missense	163590					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:179820453G>A		CCDS1334.1	1q25.2	2012-02-09			ENSG00000169905	ENSG00000169905			24055	protein-coding gene	gene with protein product		614513				15767459	Standard	NM_145034		Approved	LULL1, NET9, IFRG15	uc001gnk.3	Q8NFQ8	OTTHUMG00000035265	ENST00000367612.3:c.80C>T	1.37:g.179820453G>A	ENSP00000356584:p.Ala27Val						p.A27V	NM_001199260.1|NM_145034.4	NP_001186189.1|NP_659471.1	Q8NFQ8	TOIP2_HUMAN			4	467	-			27					Q05BU2	Missense_Mutation	SNP	ENST00000367612.3	37	c.80C>T	CCDS1334.1	.	.	.	.	.	.	.	.	.	.	G	7.950	0.744757	0.15710	2.27E-4	0.0	ENSG00000169905	ENST00000367612	T	0.26518	1.73	5.27	0.114	0.14639	.	0.716557	0.12585	N	0.456092	T	0.21103	0.0508	L	0.57536	1.79	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.28522	-1.0041	10	0.59425	D	0.04	-1.4094	3.3466	0.07137	0.2523:0.0:0.4382:0.3095	.	27	Q8NFQ8	TOIP2_HUMAN	V	27	ENSP00000356584:A27V	ENSP00000356584:A27V	A	-	2	0	TOR1AIP2	178087076	0.000000	0.05858	0.001000	0.08648	0.208000	0.24298	-0.135000	0.10420	-0.122000	0.11766	-0.822000	0.03109	GCG		0.373	TOR1AIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085304.1	NM_145034		12	28	0	0	0	1	0	12	28				
SDK2	54549	broad.mit.edu	37	17	71418542	71418542	+	Silent	SNP	C	C	T			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr17:71418542C>T	ENST00000392650.3	-	15	1929	c.1929G>A	c.(1927-1929)gtG>gtA	p.V643V	SDK2_ENST00000388726.3_Silent_p.V643V	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	643	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CTTTGGGGTCCACACTGGCCA	0.577																																						ENST00000392650.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(1927-1929)gtG>gtA		sidekick cell adhesion molecule 2							161.0	134.0	143.0					17																	71418542		2203	4300	6503	SO:0001819	synonymous_variant	54549				cell adhesion	integral to membrane		g.chr17:71418542C>T	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.1929G>A	17.37:g.71418542C>T						SDK2_ENST00000388726.3_Silent_p.V643V	p.V643V	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN			15	1929	-			643			Fibronectin type-III 1.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Silent	SNP	ENST00000392650.3	37	c.1929G>A	CCDS45769.1																																																																																				0.577	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		35	93	0	0	0	1	0	35	93				
SYPL2	284612	broad.mit.edu	37	1	110019530	110019530	+	Silent	SNP	C	C	T			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr1:110019530C>T	ENST00000369872.3	+	4	603	c.387C>T	c.(385-387)acC>acT	p.T129T	SYPL2_ENST00000401021.3_Silent_p.T129T	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2	129	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cellular calcium ion homeostasis (GO:0006874)|substantia nigra development (GO:0021762)	integral component of synaptic vesicle membrane (GO:0030285)	transporter activity (GO:0005215)			breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		TCTTCTATACCATGGCTGCCC	0.547																																						ENST00000369872.3																			0				breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16						c.(385-387)acC>acT		synaptophysin-like 2							115.0	112.0	113.0					1																	110019530		1981	4160	6141	SO:0001819	synonymous_variant	284612					integral to membrane|synaptic vesicle	transporter activity	g.chr1:110019530C>T	AK131459	CCDS41365.1	1p13.3	2008-02-05			ENSG00000143028	ENSG00000143028			27638	protein-coding gene	gene with protein product	"""mitsugumin-29"""					12975309	Standard	NM_001040709		Approved	Mg29	uc001dxp.3	Q5VXT5	OTTHUMG00000010969	ENST00000369872.3:c.387C>T	1.37:g.110019530C>T						SYPL2_ENST00000401021.3_Silent_p.T129T	p.T129T	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)	4	603	+		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	129			MARVEL.		A8K0E8|A8KAL7|I0IT67|Q6ZMX1	Silent	SNP	ENST00000369872.3	37	c.387C>T	CCDS41365.1																																																																																				0.547	SYPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030191.1	NM_001006603		13	52	0	0	0	1	0	13	52				
ZDHHC17	23390	broad.mit.edu	37	12	77242030	77242030	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr12:77242030G>A	ENST00000426126.2	+	15	2174	c.1525G>A	c.(1525-1527)Gag>Aag	p.E509K	ZDHHC17_ENST00000334822.5_Missense_Mutation_p.E509K|ZDHHC17_ENST00000550789.1_3'UTR	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	509					lipoprotein transport (GO:0042953)|magnesium ion transport (GO:0015693)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein palmitoylation (GO:0018345)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						ACTCCACTGTGAGACCACTTA	0.428																																						ENST00000426126.2																			0				breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						c.(1525-1527)Gag>Aag		zinc finger, DHHC-type containing 17							174.0	168.0	170.0					12																	77242030		1978	4160	6138	SO:0001583	missense	23390				lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding	g.chr12:77242030G>A	AB023163	CCDS44946.1	12q21.2	2013-01-10				ENSG00000186908		"""Zinc fingers, DHHC-type"", ""Ankyrin repeat domain containing"""	18412	protein-coding gene	gene with protein product		607799				9700202, 18794299	Standard	NM_015336		Approved	HIP14, HYPH, KIAA0946	uc001syk.1	Q8IUH5	OTTHUMG00000169917	ENST00000426126.2:c.1525G>A	12.37:g.77242030G>A	ENSP00000403397:p.Glu509Lys					ZDHHC17_ENST00000334822.5_Missense_Mutation_p.E509K|ZDHHC17_ENST00000550789.1_3'UTR	p.E509K	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN			15	2174	+			509					B4DR39|O75407|Q7Z2I0|Q86W89|Q86YK0|Q9P088|Q9UPZ8	Missense_Mutation	SNP	ENST00000426126.2	37	c.1525G>A	CCDS44946.1	.	.	.	.	.	.	.	.	.	.	G	9.840	1.190874	0.21954	.	.	ENSG00000186908	ENST00000426126;ENST00000334822	T;T	0.24151	1.87;1.87	5.58	5.58	0.84498	.	0.160241	0.56097	D	0.000038	T	0.14830	0.0358	N	0.12471	0.22	0.80722	D	1	B	0.14012	0.009	B	0.21360	0.034	T	0.07673	-1.0760	10	0.07325	T	0.83	-11.6118	15.8802	0.79197	0.0:0.1355:0.8645:0.0	.	509	Q8IUH5	ZDH17_HUMAN	K	509	ENSP00000403397:E509K;ENSP00000334868:E509K	ENSP00000334868:E509K	E	+	1	0	ZDHHC17	75766161	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.563000	0.60823	2.608000	0.88229	0.655000	0.94253	GAG		0.428	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406555.1	NM_015336		6	14	0	0	0	1	0	6	14				
SPATA31C1	441452	broad.mit.edu	37	9	90534212	90534212	+	RNA	SNP	A	A	G	rs654472		TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr9:90534212A>G	ENST00000602681.1	+	0	958							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CCAGTGTCCAACAGGGCGGAG	0.582																																						ENST00000602681.1																			0																																																			441452							g.chr9:90534212A>G	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"""family with sequence similarity 75, member C1"""	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90534212A>G														0	958	+									RNA	SNP	ENST00000602681.1	37																																																																																						0.582	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		5	153	0	0	0	1	0	5	153				
RPS6KA1	6195	broad.mit.edu	37	1	26898043	26898043	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr1:26898043G>A	ENST00000374168.2	+	18	1848	c.1694G>A	c.(1693-1695)cGg>cAg	p.R565Q	RPS6KA1_ENST00000526792.1_Missense_Mutation_p.R473Q|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.R574Q|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.R473Q|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.R554Q|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.R549Q	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	565	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		AAACAGCTGCGGGCTGAGAAT	0.577																																						ENST00000374168.2																			0				lung(1)	1						c.(1693-1695)cGg>cAg		ribosomal protein S6 kinase, 90kDa, polypeptide 1							82.0	70.0	74.0					1																	26898043		2203	4300	6503	SO:0001583	missense	6195				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:26898043G>A	BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"""ribosomal protein S6 kinase, 90kD, polypeptide 1"""			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.1694G>A	1.37:g.26898043G>A	ENSP00000363283:p.Arg565Gln					RPS6KA1_ENST00000530003.1_Missense_Mutation_p.R549Q|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.R473Q|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.R473Q|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.R554Q|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.R574Q	p.R565Q	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)	18	1848	+		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	565			Protein kinase 2.		A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Missense_Mutation	SNP	ENST00000374168.2	37	c.1694G>A	CCDS284.1	.	.	.	.	.	.	.	.	.	.	G	36	5.886649	0.97068	.	.	ENSG00000117676	ENST00000374168;ENST00000374166;ENST00000526792;ENST00000374162;ENST00000530003;ENST00000531382	T;T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12;-0.12	5.55	5.55	0.83447	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.66277	0.2773	N	0.13098	0.295	0.80722	D	1	P;D;D	0.89917	0.922;1.0;0.996	B;D;D	0.64595	0.267;0.927;0.926	T	0.72537	-0.4263	10	0.87932	D	0	.	19.4958	0.95072	0.0:0.0:1.0:0.0	.	549;574;565	B7Z2K7;Q15418-2;Q15418	.;.;KS6A1_HUMAN	Q	565;554;473;473;549;574	ENSP00000363283:R565Q;ENSP00000363281:R554Q;ENSP00000431651:R473Q;ENSP00000363277:R473Q;ENSP00000432281:R549Q;ENSP00000435412:R574Q	ENSP00000363277:R473Q	R	+	2	0	RPS6KA1	26770630	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.591000	0.87537	0.563000	0.77884	CGG		0.577	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011431.1	NM_002953		11	29	0	0	0	1	0	11	29				
PLXNA4	91584	broad.mit.edu	37	7	131817922	131817922	+	Silent	SNP	G	G	A	rs114567124	byFrequency	TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr7:131817922G>A	ENST00000359827.3	-	31	6437	c.5475C>T	c.(5473-5475)agC>agT	p.S1825S	PLXNA4_ENST00000321063.4_Silent_p.S1825S			Q9HCM2	PLXA4_HUMAN	plexin A4	1825					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGTCTTGGTCGCTGATGGCTG	0.507													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		18377	0.0		0.0	False		,,,				2504	0.0					ENST00000359827.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(5473-5475)agC>agT		plexin A4																																				SO:0001819	synonymous_variant	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131817922G>A	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.5475C>T	7.37:g.131817922G>A						PLXNA4_ENST00000321063.4_Silent_p.S1825S	p.S1825S			Q9HCM2	PLXA4_HUMAN			31	6437	-			1825					A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	37	c.5475C>T	CCDS43646.1																																																																																				0.507	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		31	67	0	0	0	1	0	31	67				
DST	667	broad.mit.edu	37	6	56482918	56482918	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr6:56482918C>A	ENST00000370765.6	-	23	6021	c.5914G>T	c.(5914-5916)Gag>Tag	p.E1972*	DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000446842.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	0					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GGGTTTGTCTCATCAAAAGTT	0.438																																						ENST00000370765.6																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(5914-5916)Gag>Tag		dystonin							115.0	115.0	115.0					6																	56482918		2203	4300	6503	SO:0001587	stop_gained	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56482918C>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.5914G>T	6.37:g.56482918C>A	ENSP00000359801:p.Glu1972*					DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Intron	p.E1972*	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		23	6021	-	Lung NSC(77;0.103)		1371					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Nonsense_Mutation	SNP	ENST00000370765.6	37	c.5914G>T	CCDS4959.1	.	.	.	.	.	.	.	.	.	.	C	45	11.278541	0.99540	.	.	ENSG00000151914	ENST00000370765	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	6.3658	0.21453	0.0:0.6985:0.1837:0.1178	.	.	.	.	X	1972	.	ENSP00000359801:E1972X	E	-	1	0	DST	56590877	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	3.715000	0.54897	2.578000	0.87016	0.557000	0.71058	GAG		0.438	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723		24	52	1	0	1.10513e-12	1	1.23775e-12	24	52				
TCEB3B	51224	broad.mit.edu	37	18	44560303	44560303	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr18:44560303C>T	ENST00000332567.4	-	1	1685	c.1333G>A	c.(1333-1335)Ggc>Agc	p.G445S	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	445					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GAATCAGCGCCGGCCGCCTGC	0.592																																						ENST00000332567.4																			0				breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(1333-1335)Ggc>Agc		transcription elongation factor B polypeptide 3B (elongin A2)							47.0	52.0	50.0					18																	44560303		2203	4298	6501	SO:0001583	missense	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44560303C>T	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.1333G>A	18.37:g.44560303C>T	ENSP00000331302:p.Gly445Ser					KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	p.G445S	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN			1	1685	-			445					Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	c.1333G>A	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.812603	0.32053	.	.	ENSG00000206181	ENST00000332567	T	0.07216	3.21	1.92	1.92	0.25849	.	0.913874	0.09091	N	0.849801	T	0.04543	0.0124	N	0.25485	0.75	0.09310	N	1	P	0.41232	0.743	B	0.26202	0.067	T	0.35400	-0.9790	10	0.29301	T	0.29	-7.4598	7.3726	0.26810	0.0:1.0:0.0:0.0	.	445	Q8IYF1	ELOA2_HUMAN	S	445	ENSP00000331302:G445S	ENSP00000331302:G445S	G	-	1	0	TCEB3B	42814301	0.001000	0.12720	0.003000	0.11579	0.002000	0.02628	0.996000	0.29719	1.413000	0.46997	0.514000	0.50259	GGC		0.592	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		34	89	0	0	0	1	0	34	89				
SORBS1	10580	broad.mit.edu	37	10	97117484	97117484	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr10:97117484C>T	ENST00000361941.3	-	21	2058	c.2032G>A	c.(2032-2034)Gag>Aag	p.E678K	SORBS1_ENST00000371246.2_Missense_Mutation_p.E700K|SORBS1_ENST00000393949.1_Missense_Mutation_p.E648K|SORBS1_ENST00000354106.3_Missense_Mutation_p.E648K|SORBS1_ENST00000306402.6_Missense_Mutation_p.E425K|SORBS1_ENST00000371249.2_Missense_Mutation_p.E516K|SORBS1_ENST00000371247.2_Missense_Mutation_p.E678K|SORBS1_ENST00000353505.5_Missense_Mutation_p.E529K|SORBS1_ENST00000371241.1_Missense_Mutation_p.E384K|SORBS1_ENST00000371239.1_Missense_Mutation_p.E455K|SORBS1_ENST00000371245.3_Missense_Mutation_p.E529K|SORBS1_ENST00000277982.5_Missense_Mutation_p.E700K|SORBS1_ENST00000347291.4_Missense_Mutation_p.E490K|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000371227.4_Missense_Mutation_p.E632K|SORBS1_ENST00000607232.1_Missense_Mutation_p.E445K	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		ATTTGTCTCTCATTCTCCAAG	0.458																																						ENST00000371247.2																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(2032-2034)Gag>Aag		sorbin and SH3 domain containing 1							73.0	71.0	71.0					10																	97117484		2203	4300	6503	SO:0001583	missense	10580				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr10:97117484C>T	AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.2032G>A	10.37:g.97117484C>T	ENSP00000355136:p.Glu678Lys					SORBS1_ENST00000393949.1_Missense_Mutation_p.E648K|SORBS1_ENST00000371239.1_Missense_Mutation_p.E455K|SORBS1_ENST00000277982.5_Missense_Mutation_p.E700K|SORBS1_ENST00000353505.5_Missense_Mutation_p.E529K|SORBS1_ENST00000371227.4_Missense_Mutation_p.E632K|SORBS1_ENST00000306402.6_Missense_Mutation_p.E425K|SORBS1_ENST00000347291.4_Missense_Mutation_p.E490K|SORBS1_ENST00000371249.2_Missense_Mutation_p.E516K|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000371241.1_Missense_Mutation_p.E384K|SORBS1_ENST00000361941.3_Missense_Mutation_p.E678K|SORBS1_ENST00000371245.3_Missense_Mutation_p.E529K|SORBS1_ENST00000371246.2_Missense_Mutation_p.E700K|SORBS1_ENST00000354106.3_Missense_Mutation_p.E648K|SORBS1_ENST00000607232.1_Missense_Mutation_p.E445K	p.E678K			Q9BX66	SRBS1_HUMAN		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)	23	2221	-		Colorectal(252;0.0429)	678						Missense_Mutation	SNP	ENST00000361941.3	37	c.2032G>A	CCDS31255.1	.	.	.	.	.	.	.	.	.	.	C	35	5.487867	0.96323	.	.	ENSG00000095637	ENST00000371245;ENST00000306402;ENST00000371249;ENST00000371247;ENST00000371227;ENST00000371246;ENST00000393949;ENST00000353505;ENST00000347291;ENST00000361941;ENST00000277982;ENST00000371241;ENST00000354106;ENST00000371239	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65	5.7	5.7	0.88788	.	0.000000	0.37261	N	0.002170	T	0.67887	0.2941	L	0.58101	1.795	0.80722	D	1	D;P;D;D;D;D;D;D;D;D;D;D;P	0.76494	0.998;0.951;0.998;0.97;0.996;0.964;0.998;0.998;0.997;0.999;0.996;0.998;0.925	D;P;D;P;D;P;D;D;D;D;D;D;P	0.87578	0.993;0.622;0.998;0.888;0.94;0.774;0.997;0.971;0.995;0.997;0.966;0.998;0.548	T	0.68492	-0.5394	10	0.72032	D	0.01	-18.0214	19.8379	0.96666	0.0:1.0:0.0:0.0	.	746;393;632;516;425;384;455;529;678;700;490;648;172	B7Z9B7;B4DTX5;Q9BX66-11;Q9BX66-10;Q9BX66-9;Q9BX66-4;Q9BX66-8;Q9BX66-3;Q9BX66;Q9BX66-2;Q9BX66-6;Q9BX66-5;Q6MZY5	.;.;.;.;.;.;.;.;SRBS1_HUMAN;.;.;.;.	K	529;425;516;678;632;700;648;529;490;678;700;384;648;455	ENSP00000360291:E529K;ENSP00000302556:E425K;ENSP00000360295:E516K;ENSP00000360293:E678K;ENSP00000360271:E632K;ENSP00000360292:E700K;ENSP00000377521:E648K;ENSP00000343998:E529K;ENSP00000277985:E490K;ENSP00000355136:E678K;ENSP00000277982:E700K;ENSP00000360285:E384K;ENSP00000277984:E648K;ENSP00000360283:E455K	ENSP00000277982:E700K	E	-	1	0	SORBS1	97107474	1.000000	0.71417	0.969000	0.41365	0.934000	0.57294	7.212000	0.77941	2.694000	0.91930	0.555000	0.69702	GAG		0.458	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1			8	22	0	0	0	1	0	8	22				
ATAD2	29028	broad.mit.edu	37	8	124359414	124359414	+	Silent	SNP	T	T	C			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr8:124359414T>C	ENST00000287394.5	-	16	2237	c.2130A>G	c.(2128-2130)caA>caG	p.Q710Q	MIR548AA1_ENST00000384971.2_RNA|ATAD2_ENST00000521903.1_Silent_p.Q28Q	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	710					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CAACAGTGTTTTGCAGGAGTG	0.433																																						ENST00000287394.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48						c.(2128-2130)caA>caG		ATPase family, AAA domain containing 2							119.0	118.0	118.0					8																	124359414		2203	4300	6503	SO:0001819	synonymous_variant	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124359414T>C	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.2130A>G	8.37:g.124359414T>C						ATAD2_ENST00000521903.1_Silent_p.Q28Q	p.Q710Q	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		16	2237	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		710					Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Silent	SNP	ENST00000287394.5	37	c.2130A>G	CCDS6343.1																																																																																				0.433	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		27	48	0	0	0	1	0	27	48				
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G	rs372894655	byFrequency	TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532			T	MLL	ALL								A|||	612	0.122204	0.1505	0.1066	5008	,	,		12422	0.0833		0.0716	False		,,,				2504	0.1871					ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		19	Substitution - coding silent(19)	p.S167S(19)	lung(8)|kidney(5)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(499-501)agT>agC		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414343		1537	3257	4794	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414343A>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.501T>C	9.37:g.20414343A>G						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR	p.S167S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	787	-			167			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.501T>C	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		6	77	0	0	0	1	0	6	77				
PLEKHM1	9842	broad.mit.edu	37	17	43531385	43531385	+	Silent	SNP	G	G	A	rs199719858		TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr17:43531385G>A	ENST00000430334.3	-	7	1966	c.1833C>T	c.(1831-1833)gaC>gaT	p.D611D	AC091132.1_ENST00000433601.1_RNA|PLEKHM1_ENST00000421073.2_Silent_p.D522D	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	611	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					CCTCAGCTTCGTCCTGGGAGG	0.652																																						ENST00000430334.3																			0				breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(1831-1833)gaC>gaT		pleckstrin homology domain containing, family M (with RUN domain) member 1							35.0	34.0	34.0					17																	43531385		2201	4298	6499	SO:0001819	synonymous_variant	9842				intracellular signal transduction	cytoplasm	metal ion binding	g.chr17:43531385G>A	X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"""Pleckstrin homology (PH) domain containing"""	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.1833C>T	17.37:g.43531385G>A						AC091132.1_ENST00000433601.1_RNA|PLEKHM1_ENST00000421073.2_Silent_p.D522D	p.D611D	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN			7	1966	-	Renal(3;0.0405)		611			PH 1.		Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Silent	SNP	ENST00000430334.3	37	c.1833C>T	CCDS32671.1																																																																																				0.652	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444659.1	NM_014798		19	41	0	0	0	1	0	19	41				
OR52D1	390066	broad.mit.edu	37	11	5510594	5510594	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr11:5510594T>C	ENST00000322641.5	+	1	680	c.658T>C	c.(658-660)Tcc>Ccc	p.S220P	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	220					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATTGCCATTTCCTATGGCTT	0.502																																						ENST00000322641.5																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(658-660)Tcc>Ccc		olfactory receptor, family 52, subfamily D, member 1							268.0	230.0	243.0					11																	5510594		2201	4297	6498	SO:0001583	missense	390066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5510594T>C	BK004276	CCDS31384.1	11p15.4	2012-08-09			ENSG00000181609	ENSG00000181609		"""GPCR / Class A : Olfactory receptors"""	15212	protein-coding gene	gene with protein product							Standard	NM_001005163		Approved		uc010qzg.2	Q9H346	OTTHUMG00000066895	ENST00000322641.5:c.658T>C	11.37:g.5510594T>C	ENSP00000326232:p.Ser220Pro					HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	p.S220P	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	680	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	220					B9EGY9|Q6IFI6	Missense_Mutation	SNP	ENST00000322641.5	37	c.658T>C	CCDS31384.1	.	.	.	.	.	.	.	.	.	.	T	13.73	2.324488	0.41197	.	.	ENSG00000181609	ENST00000322641	T	0.46819	0.86	5.58	5.58	0.84498	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000005	T	0.81356	0.4805	H	0.98833	4.345	0.40085	D	0.976185	D	0.89917	1.0	D	0.91635	0.999	D	0.89133	0.3511	10	0.87932	D	0	.	14.7227	0.69320	0.0:0.0:0.0:1.0	.	220	Q9H346	O52D1_HUMAN	P	220	ENSP00000326232:S220P	ENSP00000326232:S220P	S	+	1	0	OR52D1	5467170	0.980000	0.34600	0.958000	0.39756	0.279000	0.26890	1.952000	0.40343	2.343000	0.79666	0.533000	0.62120	TCC		0.502	OR52D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143372.1	NM_001005163		4	155	0	0	0	1	0	4	155				
SERP1	27230	broad.mit.edu	37	3	150321156	150321156	+	5'Flank	SNP	C	C	T			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr3:150321156C>T	ENST00000479209.1	-	0	0				SERP1_ENST00000490945.1_5'Flank|SELT_ENST00000485923.1_5'UTR|SELT_ENST00000480740.1_Intron|SELT_ENST00000477889.1_5'UTR|SELT_ENST00000471696.1_Missense_Mutation_p.L3F			Q9Y6X1	SERP1_HUMAN	stress-associated endoplasmic reticulum protein 1						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|endoplasmic reticulum unfolded protein response (GO:0030968)|glucose metabolic process (GO:0006006)|multicellular organismal aging (GO:0010259)|muscle organ morphogenesis (GO:0048644)|plasma membrane organization (GO:0007009)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of organ growth (GO:0046622)|positive regulation of translation (GO:0045727)|post-embryonic development (GO:0009791)|protein glycosylation (GO:0006486)|protein transport (GO:0015031)|response to stress (GO:0006950)|skeletal system development (GO:0001501)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|ribosome (GO:0005840)				large_intestine(1)|lung(3)	4			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TAAGATGAGGCTTCTGCTGCT	0.632																																						ENST00000471696.1																			0											c.(7-9)Ctt>Ttt									15.0	19.0	18.0					3																	150321156		1994	4158	6152	SO:0001631	upstream_gene_variant	51714				cell redox homeostasis|selenocysteine incorporation		selenium binding	g.chr3:150321156C>T	AK125413	CCDS3150.1	3q25.1	2007-12-07	2007-12-07		ENSG00000120742	ENSG00000120742			10759	protein-coding gene	gene with protein product	"""ribosome associated membrane protein 4"""					10601334, 11230166	Standard	NM_014445		Approved	RAMP4, FLJ43424	uc003exy.3	Q9Y6X1	OTTHUMG00000159769		3.37:g.150321156C>T	Exception_encountered					SELT_ENST00000485923.1_5'UTR|SELT_ENST00000480740.1_Intron|SELT_ENST00000477889.1_5'UTR	p.L3F	NM_016275.3	NP_057359.2	P62341	SELT_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		1	82	+			3					D3DNI6	Missense_Mutation	SNP	ENST00000479209.1	37	c.7C>T	CCDS3150.1	.	.	.	.	.	.	.	.	.	.	c	11.95	1.792801	0.31685	.	.	ENSG00000198843	ENST00000471696	.	.	.	4.81	2.98	0.34508	.	0.673250	0.14146	N	0.338305	T	0.28599	0.0708	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.05937	-1.0855	9	0.13470	T	0.59	-2.886	9.7805	0.40645	0.0:0.8154:0.0:0.1846	.	3	P62341	SELT_HUMAN	F	3	.	ENSP00000418910:L3F	L	+	1	0	RP11-392O18.1	151803846	0.790000	0.28787	0.957000	0.39632	0.961000	0.63080	0.137000	0.15995	1.148000	0.42385	0.651000	0.88453	CTT		0.632	SERP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357239.1	NM_014445		10	22	0	0	0	1	0	10	22				
ARG2	384	broad.mit.edu	37	14	68113731	68113731	+	Silent	SNP	G	G	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr14:68113731G>A	ENST00000261783.3	+	6	891	c.711G>A	c.(709-711)ctG>ctA	p.L237L		NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN	arginase 2	237					arginine metabolic process (GO:0006525)|cellular nitrogen compound metabolic process (GO:0034641)|nitric oxide biosynthetic process (GO:0006809)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)|urea cycle (GO:0000050)|ureteric bud development (GO:0001657)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	arginase activity (GO:0004053)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	CATTTGATCTGCTGATTGGCA	0.378																																						ENST00000261783.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11						c.(709-711)ctG>ctA		arginase 2	L-Arginine(DB00125)|L-Ornithine(DB00129)						96.0	93.0	94.0					14																	68113731		2203	4300	6503	SO:0001819	synonymous_variant	384				arginine metabolic process|nitric oxide biosynthetic process|urea cycle	mitochondrial matrix	arginase activity|metal ion binding	g.chr14:68113731G>A	D86724	CCDS9785.1	14q24.1	2013-05-01	2013-05-01			ENSG00000081181			664	protein-coding gene	gene with protein product		107830	"""arginase, type II"""			8954792, 8898077	Standard	NM_001172		Approved		uc001xjs.3	P78540		ENST00000261783.3:c.711G>A	14.37:g.68113731G>A							p.L237L	NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN		all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	6	891	+			237					B2R690|Q6FHY8	Silent	SNP	ENST00000261783.3	37	c.711G>A	CCDS9785.1																																																																																				0.378	ARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415190.2	NM_001172		9	31	0	0	0	1	0	9	31				
HEATR5B	54497	broad.mit.edu	37	2	37234241	37234241	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr2:37234241C>T	ENST00000233099.5	-	29	4824	c.4729G>A	c.(4729-4731)Gct>Act	p.A1577T	HEATR5B_ENST00000354531.2_Missense_Mutation_p.A1577T	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1577						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				AAAGATTTAGCACTACCCACT	0.353																																						ENST00000233099.5																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77						c.(4729-4731)Gct>Act		HEAT repeat containing 5B							118.0	110.0	113.0					2																	37234241		2203	4300	6503	SO:0001583	missense	54497						binding	g.chr2:37234241C>T	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.4729G>A	2.37:g.37234241C>T	ENSP00000233099:p.Ala1577Thr					HEATR5B_ENST00000354531.2_Missense_Mutation_p.A1577T	p.A1577T	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN			29	4824	-		all_hematologic(82;0.21)	1577					B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	c.4729G>A	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	C	7.193	0.591944	0.13812	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.44881	0.91;0.91	5.53	1.22	0.21188	Armadillo-like helical (1);Armadillo-type fold (1);	0.372378	0.29444	N	0.012136	T	0.14527	0.0351	N	0.02916	-0.46	0.29628	N	0.845694	B	0.02656	0.0	B	0.09377	0.004	T	0.24584	-1.0156	10	0.11485	T	0.65	-7.5778	6.762	0.23546	0.0:0.3525:0.0:0.6475	.	1577	Q9P2D3	HTR5B_HUMAN	T	1577	ENSP00000233099:A1577T;ENSP00000346531:A1577T	ENSP00000233099:A1577T	A	-	1	0	HEATR5B	37087745	0.854000	0.29725	0.619000	0.29118	0.401000	0.30781	1.024000	0.30077	0.311000	0.23014	-0.218000	0.12543	GCT		0.353	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		34	61	0	0	0	1	0	34	61				
ARG2	384	broad.mit.edu	37	14	68113732	68113732	+	Silent	SNP	C	C	T			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr14:68113732C>T	ENST00000261783.3	+	6	892	c.712C>T	c.(712-714)Ctg>Ttg	p.L238L		NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN	arginase 2	238					arginine metabolic process (GO:0006525)|cellular nitrogen compound metabolic process (GO:0034641)|nitric oxide biosynthetic process (GO:0006809)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)|urea cycle (GO:0000050)|ureteric bud development (GO:0001657)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	arginase activity (GO:0004053)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	ATTTGATCTGCTGATTGGCAA	0.378																																						ENST00000261783.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11						c.(712-714)Ctg>Ttg		arginase 2	L-Arginine(DB00125)|L-Ornithine(DB00129)						95.0	92.0	93.0					14																	68113732		2203	4300	6503	SO:0001819	synonymous_variant	384				arginine metabolic process|nitric oxide biosynthetic process|urea cycle	mitochondrial matrix	arginase activity|metal ion binding	g.chr14:68113732C>T	D86724	CCDS9785.1	14q24.1	2013-05-01	2013-05-01			ENSG00000081181			664	protein-coding gene	gene with protein product		107830	"""arginase, type II"""			8954792, 8898077	Standard	NM_001172		Approved		uc001xjs.3	P78540		ENST00000261783.3:c.712C>T	14.37:g.68113732C>T							p.L238L	NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN		all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	6	892	+			238					B2R690|Q6FHY8	Silent	SNP	ENST00000261783.3	37	c.712C>T	CCDS9785.1																																																																																				0.378	ARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415190.2	NM_001172		9	30	0	0	0	1	0	9	30				
SORD	6652	broad.mit.edu	37	15	45357482	45357482	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr15:45357482G>A	ENST00000267814.9	+	5	619	c.439G>A	c.(439-441)Gtc>Atc	p.V147I	SORD_ENST00000558580.1_Missense_Mutation_p.V126I	NM_003104.5	NP_003095.2	Q00796	DHSO_HUMAN	sorbitol dehydrogenase	147					fructose biosynthetic process (GO:0046370)|glucose metabolic process (GO:0006006)|L-xylitol catabolic process (GO:0051160)|L-xylitol metabolic process (GO:0051164)|sorbitol catabolic process (GO:0006062)|sperm motility (GO:0030317)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)	carbohydrate binding (GO:0030246)|L-iditol 2-dehydrogenase activity (GO:0003939)|NAD binding (GO:0051287)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(3)|lung(4)	9		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)		TCCTGACAATGTCACCTTTGA	0.483																																						ENST00000267814.9																			0				endometrium(2)|large_intestine(3)|lung(4)	9						c.(439-441)Gtc>Atc		sorbitol dehydrogenase	NADH(DB00157)						104.0	106.0	106.0					15																	45357482		2198	4298	6496	SO:0001583	missense	6652				fructose biosynthetic process|glucose metabolic process|L-xylitol catabolic process|sorbitol catabolic process|sperm motility	cilium|extracellular space|flagellum|membrane fraction|mitochondrial membrane|soluble fraction	L-iditol 2-dehydrogenase activity|NAD binding|sugar binding|zinc ion binding	g.chr15:45357482G>A		CCDS10116.1	15q15-q21.1	2012-10-02			ENSG00000140263	ENSG00000140263	1.1.1.14		11184	protein-coding gene	gene with protein product		182500				7782086	Standard	NM_003104		Approved		uc001zul.4	Q00796	OTTHUMG00000131265	ENST00000267814.9:c.439G>A	15.37:g.45357482G>A	ENSP00000267814:p.Val147Ile					SORD_ENST00000558580.1_Missense_Mutation_p.V126I	p.V147I	NM_003104.5	NP_003095.2	Q00796	DHSO_HUMAN		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)	5	619	+		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)	147					B2R655|B7Z3A6|J3JZZ5|Q16682|Q9UMD6	Missense_Mutation	SNP	ENST00000267814.9	37	c.439G>A	CCDS10116.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.992383	0.54041	.	.	ENSG00000140263	ENST00000267814	T	0.02121	4.44	4.51	3.58	0.41010	GroES-like (1);	0.000000	0.85682	D	0.000000	T	0.03564	0.0102	L	0.39633	1.23	0.80722	D	1	B;B	0.17667	0.023;0.011	B;B	0.31337	0.078;0.128	T	0.45687	-0.9244	10	0.56958	D	0.05	-13.7989	13.6119	0.62083	0.0:0.1566:0.8434:0.0	.	68;147	B4DKI2;Q00796	.;DHSO_HUMAN	I	147	ENSP00000267814:V147I	ENSP00000267814:V147I	V	+	1	0	SORD	43144774	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	5.370000	0.66144	1.101000	0.41535	0.563000	0.77884	GTC		0.483	SORD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254033.3			66	67	0	0	0	1	0	66	67				
COL1A2	1278	broad.mit.edu	37	7	94055131	94055131	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr7:94055131G>A	ENST00000297268.6	+	44	3376	c.2905G>A	c.(2905-2907)Gtg>Atg	p.V969M		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	969					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)	p.V969M(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCATGGCCCCGTGGGTCCTGC	0.537										HNSCC(75;0.22)																												ENST00000297268.6																		COL1A2/PLAG1(3)	1	Substitution - Missense(1)	p.V969M(1)	large_intestine(1)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.(2905-2907)Gtg>Atg		collagen, type I, alpha 2	Collagenase(DB00048)						93.0	89.0	90.0					7																	94055131		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94055131G>A	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2905G>A	7.37:g.94055131G>A	ENSP00000297268:p.Val969Met	HNSCC(75;0.22)					p.V969M	NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		44	3376	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		969					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.2905G>A	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.964964	0.53507	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.93604	-3.25	5.32	4.44	0.53790	.	0.275088	0.36628	N	0.002485	D	0.88160	0.6362	L	0.28274	0.84	0.37478	D	0.915879	B	0.34226	0.443	B	0.28991	0.097	D	0.89645	0.3865	10	0.62326	D	0.03	.	15.9651	0.79966	0.0:0.0:0.8644:0.1356	.	969	P08123	CO1A2_HUMAN	M	969;970	ENSP00000297268:V969M	ENSP00000297268:V969M	V	+	1	0	COL1A2	93893067	0.998000	0.40836	0.913000	0.36048	0.803000	0.45373	2.941000	0.49011	1.618000	0.50286	0.655000	0.94253	GTG		0.537	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		6	17	0	0	0	1	0	6	17				
CLIP1	6249	broad.mit.edu	37	12	122862212	122862212	+	Silent	SNP	C	C	T			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr12:122862212C>T	ENST00000540338.1	-	2	422	c.381G>A	c.(379-381)aaG>aaA	p.K127K	CLIP1_ENST00000302528.7_Silent_p.K127K|CLIP1_ENST00000537178.1_Silent_p.K127K|CLIP1_ENST00000358808.2_Silent_p.K127K|CLIP1_ENST00000361654.4_Silent_p.K127K			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	127					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTGCTTGCACCTTCCTTGTTA	0.522																																						ENST00000358808.2																			0				NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(379-381)aaG>aaA		CAP-GLY domain containing linker protein 1							130.0	114.0	119.0					12																	122862212		2203	4300	6503	SO:0001819	synonymous_variant	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122862212C>T		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.381G>A	12.37:g.122862212C>T						CLIP1_ENST00000537178.1_Silent_p.K127K|CLIP1_ENST00000361654.4_Silent_p.K127K|CLIP1_ENST00000540338.1_Silent_p.K127K|CLIP1_ENST00000302528.7_Silent_p.K127K	p.K127K	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	3	535	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		127					A0AVD3|Q17RS4|Q29RG0	Silent	SNP	ENST00000540338.1	37	c.381G>A	CCDS58285.1																																																																																				0.522	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		17	82	0	0	0	1	0	17	82				
LRP10	26020	broad.mit.edu	37	14	23345211	23345211	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr14:23345211G>A	ENST00000359591.4	+	5	1745	c.1054G>A	c.(1054-1056)Gac>Aac	p.D352N	LRP10_ENST00000546834.1_Missense_Mutation_p.D352N	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	352	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				endocytosis (GO:0006897)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		AGATGAGGAGGACTGCCCAGG	0.652																																						ENST00000359591.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32						c.(1054-1056)Gac>Aac		low density lipoprotein receptor-related protein 10							40.0	40.0	40.0					14																	23345211		2203	4300	6503	SO:0001583	missense	26020				endocytosis	coated pit|integral to membrane		g.chr14:23345211G>A	AF131760	CCDS9578.1	14q11.2	2013-05-29			ENSG00000197324	ENSG00000197324		"""Low density lipoprotein receptors"""	14553	protein-coding gene	gene with protein product		609921				11123907	Standard	XM_005267510		Approved	DKFZP564C1940, MGC8675, LRP9, MST087, MSTP087	uc001whd.3	Q7Z4F1	OTTHUMG00000028705	ENST00000359591.4:c.1054G>A	14.37:g.23345211G>A	ENSP00000352601:p.Asp352Asn					LRP10_ENST00000546834.1_Missense_Mutation_p.D352N	p.D352N	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN		GBM - Glioblastoma multiforme(265;0.00549)	5	1745	+	all_cancers(95;4.69e-05)		352			LDL-receptor class A 2.		A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	Missense_Mutation	SNP	ENST00000359591.4	37	c.1054G>A	CCDS9578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.844|1.844	-0.466612|-0.466612	0.04476|0.04476	.|.	.|.	ENSG00000197324|ENSG00000197324	ENST00000359591;ENST00000546834|ENST00000551466	D;D|.	0.95447|.	-2.75;-3.71|.	5.97|5.97	0.27|0.27	0.15635|0.15635	.|.	0.683009|.	0.15710|.	N|.	0.248473|.	T|T	0.18841|0.18841	0.0452|0.0452	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.29305|0.29305	-1.0016|-1.0016	10|5	0.02654|.	T|.	1|.	-3.3837|-3.3837	10.8784|10.8784	0.46925|0.46925	0.6661:0.0:0.3339:0.0|0.6661:0.0:0.3339:0.0	.|.	352|.	Q7Z4F1|.	LRP10_HUMAN|.	N|E	352|253	ENSP00000352601:D352N;ENSP00000447559:D352N|.	ENSP00000352601:D352N|.	D|G	+|+	1|2	0|0	LRP10|LRP10	22415051|22415051	0.009000|0.009000	0.17119|0.17119	0.940000|0.940000	0.37924|0.37924	0.986000|0.986000	0.74619|0.74619	0.496000|0.496000	0.22499|0.22499	-0.192000|-0.192000	0.10432|0.10432	-0.150000|-0.150000	0.13652|0.13652	GAC|GGA		0.652	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071663.3			11	15	0	0	0	1	0	11	15				
ZNF48	197407	broad.mit.edu	37	16	30409623	30409623	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr16:30409623G>A	ENST00000320159.2	+	2	1428	c.1052G>A	c.(1051-1053)cGc>cAc	p.R351H	SEPT1_ENST00000570039.1_5'Flank	NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	351				R -> H (in Ref. 2; AAH41388). {ECO:0000305}.	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(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						AAACACCTCCGCACCCACAGT	0.652																																						ENST00000320159.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						c.(1051-1053)cGc>cAc		zinc finger protein 48							99.0	70.0	80.0					16																	30409623		2197	4300	6497	SO:0001583	missense	197407				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30409623G>A	M88358, AK056313	CCDS10679.1, CCDS73868.1	16p11.2	2013-01-08			ENSG00000180035	ENSG00000180035		"""Zinc fingers, C2H2-type"""	13114	protein-coding gene	gene with protein product			"""zinc finger protein 553"""	ZNF553		1505991	Standard	NM_152652		Approved	DKFZp762K013, FLJ31751, MGC43952	uc021tgi.1	Q96MX3	OTTHUMG00000048195	ENST00000320159.2:c.1052G>A	16.37:g.30409623G>A	ENSP00000324056:p.Arg351His						p.R351H	NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN			2	1428	+			351	R -> H (in Ref. 2; AAH41388).				Q15920|Q4G0R3|Q69YP3|Q96IL9	Missense_Mutation	SNP	ENST00000320159.2	37	c.1052G>A	CCDS10679.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.020840	0.54576	.	.	ENSG00000180035	ENST00000495929;ENST00000320159	T	0.25749	1.78	4.95	4.95	0.65309	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41605	D	0.000857	T	0.52075	0.1712	M	0.88310	2.945	0.27874	N	0.939918	D	0.89917	1.0	D	0.67382	0.951	T	0.55101	-0.8193	10	0.72032	D	0.01	-17.359	9.1685	0.37065	0.0965:0.0:0.9035:0.0	.	351	Q96MX3	ZNF48_HUMAN	H	476;351	ENSP00000324056:R351H	ENSP00000324056:R351H	R	+	2	0	ZNF48	30317124	0.025000	0.19082	1.000000	0.80357	0.810000	0.45777	2.011000	0.40922	2.575000	0.86900	0.460000	0.39030	CGC		0.652	ZNF48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255549.2	NM_152652		28	54	0	0	0	1	0	28	54				
RAG2	5897	broad.mit.edu	37	11	36615351	36615351	+	Missense_Mutation	SNP	C	C	T	rs144012817	byFrequency	TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr11:36615351C>T	ENST00000311485.3	-	2	529	c.368G>A	c.(367-369)cGc>cAc	p.R123H	RAG2_ENST00000528428.1_5'Flank|C11orf74_ENST00000534635.1_5'Flank|C11orf74_ENST00000334307.5_5'Flank|C11orf74_ENST00000347206.4_5'Flank|C11orf74_ENST00000446510.2_5'Flank	NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	123					B cell differentiation (GO:0030183)|chromatin modification (GO:0016568)|pre-B cell allelic exclusion (GO:0002331)|T cell differentiation in thymus (GO:0033077)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				CTCTGTGCAGCGAAAAGTAAC	0.398									Familial Hemophagocytic Lymphohistiocytosis				C|||	2	0.000399361	0.0	0.0029	5008	,	,		22836	0.0		0.0	False		,,,				2504	0.0					ENST00000311485.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32						c.(367-369)cGc>cAc		recombination activating gene 2		C	HIS/ARG	0,4404		0,0,2202	151.0	146.0	147.0		368	5.5	1.0	11	dbSNP_134	147	4,8592	3.0+/-9.4	0,4,4294	no	missense	RAG2	NM_000536.3	29	0,4,6496	TT,TC,CC		0.0465,0.0,0.0308	benign	123/528	36615351	4,12996	2202	4298	6500	SO:0001583	missense	5897	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding	g.chr11:36615351C>T	AF080577	CCDS7903.1	11p13	2014-09-17				ENSG00000175097			9832	protein-coding gene	gene with protein product		179616				1283330	Standard	NM_000536		Approved		uc001mwv.4	P55895		ENST00000311485.3:c.368G>A	11.37:g.36615351C>T	ENSP00000308620:p.Arg123His						p.R123H	NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN			2	529	-	all_lung(20;0.226)	all_hematologic(20;0.00756)	123					A8K9E9|Q8TBL4	Missense_Mutation	SNP	ENST00000311485.3	37	c.368G>A	CCDS7903.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.364950	0.61513	0.0	4.65E-4	ENSG00000175097	ENST00000311485;ENST00000529083	D;T	0.90563	-2.69;-0.82	5.52	5.52	0.82312	Galactose oxidase/kelch, beta-propeller (1);Kelch-type beta propeller (1);	0.455786	0.25081	N	0.033288	D	0.90765	0.7101	M	0.71920	2.185	0.36944	D	0.892505	P	0.47409	0.895	P	0.45794	0.493	D	0.92458	0.5975	10	0.46703	T	0.11	-10.0167	13.1739	0.59615	0.0:0.9174:0.0:0.0826	.	123	P55895	RAG2_HUMAN	H	123	ENSP00000308620:R123H;ENSP00000436327:R123H	ENSP00000308620:R123H	R	-	2	0	RAG2	36571927	0.382000	0.25148	1.000000	0.80357	0.938000	0.57974	1.740000	0.38228	2.593000	0.87608	0.650000	0.86243	CGC		0.398	RAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389536.1	NM_000536		20	66	0	0	0	1	0	20	66				
FLT1	2321	broad.mit.edu	37	13	28877426	28877426	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr13:28877426G>T	ENST00000282397.4	-	30	4146	c.3895C>A	c.(3895-3897)Cac>Aac	p.H1299N	FLT1_ENST00000540678.1_Missense_Mutation_p.H517N|FLT1_ENST00000543394.1_Missense_Mutation_p.H322N	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1299					blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCGCTGACGTGCCCACAGCTG	0.547																																						ENST00000282397.4																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115						c.(3895-3897)Cac>Aac		fms-related tyrosine kinase 1	Sunitinib(DB01268)						87.0	76.0	80.0					13																	28877426		2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28877426G>T	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.3895C>A	13.37:g.28877426G>T	ENSP00000282397:p.His1299Asn					FLT1_ENST00000543394.1_Missense_Mutation_p.H322N|FLT1_ENST00000540678.1_Missense_Mutation_p.H517N	p.H1299N	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	30	4146	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	1299					A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.3895C>A	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	G	8.844	0.942991	0.18281	.	.	ENSG00000102755	ENST00000282397;ENST00000543394;ENST00000540678	T;T;T	0.76968	-0.84;-1.05;-1.06	5.06	4.22	0.49857	.	0.312186	0.33199	N	0.005178	T	0.67850	0.2937	L	0.43923	1.385	0.80722	D	1	P	0.34462	0.454	B	0.32677	0.15	T	0.63571	-0.6607	10	0.28530	T	0.3	.	10.8771	0.46917	0.0876:0.0:0.9124:0.0	.	1299	P17948	VGFR1_HUMAN	N	1299;322;517	ENSP00000282397:H1299N;ENSP00000437841:H322N;ENSP00000443311:H517N	ENSP00000282397:H1299N	H	-	1	0	FLT1	27775426	1.000000	0.71417	0.922000	0.36590	0.000000	0.00434	5.605000	0.67634	1.133000	0.42147	-0.259000	0.10710	CAC		0.547	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			14	46	1	0	1.05317e-09	1	1.1452e-09	14	46				
DEPDC1	55635	broad.mit.edu	37	1	68943612	68943612	+	Missense_Mutation	SNP	T	T	G			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr1:68943612T>G	ENST00000456315.2	-	11	2270	c.2156A>C	c.(2155-2157)tAc>tCc	p.Y719S	DEPDC1_ENST00000370966.5_Missense_Mutation_p.Y435S|RP4-694A7.2_ENST00000425820.1_RNA	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	719					intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		ACAGTATGAGTAAGTTGGCAA	0.333																																						ENST00000456315.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(2155-2157)tAc>tCc		DEP domain containing 1							128.0	134.0	132.0					1																	68943612		2203	4299	6502	SO:0001583	missense	55635				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding	g.chr1:68943612T>G	AK000361	CCDS644.1, CCDS44159.1	1p31.2	2008-08-19			ENSG00000024526	ENSG00000024526			22949	protein-coding gene	gene with protein product		612002					Standard	NM_001114120		Approved	DEP.8, FLJ20354, SDP35, DEPDC1A	uc001dem.4	Q5TB30	OTTHUMG00000009212	ENST00000456315.2:c.2156A>C	1.37:g.68943612T>G	ENSP00000412292:p.Tyr719Ser					DEPDC1_ENST00000370966.5_Missense_Mutation_p.Y435S	p.Y719S	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)	11	2270	-			719					A8QXE0|A8QXE1|Q05DU3|Q5TB28|Q9H9I3|Q9NX21|Q9NXZ0	Missense_Mutation	SNP	ENST00000456315.2	37	c.2156A>C	CCDS44159.1	.	.	.	.	.	.	.	.	.	.	T	11.67	1.707798	0.30322	.	.	ENSG00000024526	ENST00000456315;ENST00000370966	T;T	0.46063	0.88;0.88	5.7	4.55	0.56014	.	.	.	.	.	T	0.32406	0.0828	M	0.70595	2.14	0.32860	D	0.507807	P;P	0.50617	0.635;0.937	B;P	0.48627	0.32;0.584	T	0.20739	-1.0266	9	0.22109	T	0.4	-5.2868	12.0034	0.53243	0.1298:0.0:0.0:0.8702	.	719;435	Q5TB30;Q5TB30-2	DEP1A_HUMAN;.	S	719;435	ENSP00000412292:Y719S;ENSP00000360005:Y435S	ENSP00000360005:Y435S	Y	-	2	0	DEPDC1	68716200	1.000000	0.71417	0.485000	0.27403	0.865000	0.49528	5.785000	0.68998	0.953000	0.37825	0.528000	0.53228	TAC		0.333	DEPDC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025514.2	NM_017779		41	97	0	0	0	1	0	41	97				
HRAS	3265	broad.mit.edu	37	11	534286	534286	+	Missense_Mutation	SNP	C	C	G	rs104894228		TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr11:534286C>G	ENST00000451590.1	-	2	224	c.37G>C	c.(37-39)Ggt>Cgt	p.G13R	HRAS_ENST00000417302.1_Missense_Mutation_p.G13R|HRAS_ENST00000311189.7_Missense_Mutation_p.G13R|HRAS_ENST00000397596.2_Missense_Mutation_p.G13R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.G13R	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	13			G -> C (in CSTLO). {ECO:0000269|PubMed:16329078}.|G -> D (in CSTLO). {ECO:0000269|PubMed:16170316}.|G -> R (in SFM; somatic mutation; shows constitutive activation of the MAPK and PI3K-AKT signaling pathways). {ECO:0000269|PubMed:22683711}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.G13R(70)|p.G13S(9)|p.G13C(8)|p.G12_G13insAG(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TTGCCCACACCGCCGGCGCCC	0.642		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1		6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""	"""infrequent sarcomas, rare other types"""		88	Substitution - Missense(87)|Insertion - In frame(1)	p.G13R(70)|p.G13S(9)|p.G13C(8)|p.G12_G13insAG(1)	skin(26)|thyroid(17)|urinary_tract(13)|upper_aerodigestive_tract(11)|soft_tissue(8)|lung(5)|salivary_gland(3)|prostate(3)|adrenal_gland(1)|bone(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901	GRCh37	CM060018	HRAS	M	rs104894228	c.(37-39)Ggt>Cgt		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						85.0	80.0	82.0					11																	534286		2202	4300	6502	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:534286C>G	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.37G>C	11.37:g.534286C>G	ENSP00000407586:p.Gly13Arg	HNSCC(11;0.0054)				HRAS_ENST00000311189.7_Missense_Mutation_p.G13R|HRAS_ENST00000451590.1_Missense_Mutation_p.G13R|HRAS_ENST00000397594.1_Missense_Mutation_p.G13R|HRAS_ENST00000397596.2_Missense_Mutation_p.G13R|HRAS_ENST00000468682.2_5'UTR	p.G13R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	224	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	13		G -> C (in FCSS).|G -> D (in FCSS).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.37G>C	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.589995	0.66105	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	T;T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76;-0.76	3.0	3.0	0.34707	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84257	0.5432	M	0.74647	2.275	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.73708	0.967;0.981	D	0.86952	0.2086	10	0.87932	D	0	.	14.1517	0.65389	0.0:1.0:0.0:0.0	.	13;13	P01112-2;P01112	.;RASH_HUMAN	R	13	ENSP00000380722:G13R;ENSP00000380723:G13R;ENSP00000407586:G13R;ENSP00000388246:G13R;ENSP00000309845:G13R	ENSP00000309845:G13R	G	-	1	0	HRAS	524286	1.000000	0.71417	0.446000	0.26920	0.236000	0.25371	7.472000	0.80996	1.986000	0.57962	0.561000	0.74099	GGT		0.642	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		6	43	0	0	0	1	0	6	43				
ANO2	57101	broad.mit.edu	37	12	5687656	5687656	+	Missense_Mutation	SNP	G	G	T	rs373194140		TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr12:5687656G>T	ENST00000356134.5	-	23	2336	c.2265C>A	c.(2263-2265)ttC>ttA	p.F755L	ANO2_ENST00000546188.1_Missense_Mutation_p.F755L|ANO2_ENST00000327087.8_Missense_Mutation_p.F754L	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	759					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.F754F(1)|p.F755F(1)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						AGGAGGCCACGAAGAGGGTGA	0.552																																						ENST00000327087.8																			2	Substitution - coding silent(2)	p.F754F(1)|p.F755F(1)	lung(2)	central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						c.(2260-2262)ttC>ttA		anoctamin 2							67.0	73.0	71.0					12																	5687656		2076	4217	6293	SO:0001583	missense	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5687656G>T	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.2265C>A	12.37:g.5687656G>T	ENSP00000348453:p.Phe755Leu					ANO2_ENST00000356134.5_Missense_Mutation_p.F755L|ANO2_ENST00000546188.1_Missense_Mutation_p.F755L	p.F754L			Q9NQ90	ANO2_HUMAN			22	2333	-			759					C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37	c.2262C>A		.	.	.	.	.	.	.	.	.	.	G	21.0	4.076571	0.76415	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	D;D;D	0.87571	-2.27;-2.27;-2.27	5.02	-4.76	0.03229	.	0.000000	0.85682	D	0.000000	D	0.94162	0.8127	H	0.96604	3.85	0.58432	D	0.999994	D	0.76494	0.999	D	0.78314	0.991	D	0.92736	0.6204	10	0.87932	D	0	.	12.3226	0.54993	0.5885:0.0:0.4115:0.0	.	754	Q9NQ90-3	.	L	754;755;755;759	ENSP00000314048:F754L;ENSP00000348453:F755L;ENSP00000440981:F755L	ENSP00000314048:F754L	F	-	3	2	ANO2	5557917	0.942000	0.31987	0.905000	0.35620	0.952000	0.60782	0.233000	0.17911	-1.174000	0.02754	-1.581000	0.00855	TTC		0.552	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		9	18	1	0	3.86212e-05	1	4.04259e-05	9	18				
SCML1	6322	broad.mit.edu	37	X	17771493	17771493	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chrX:17771493G>A	ENST00000380041.3	+	8	1299	c.971G>A	c.(970-972)gGa>gAa	p.G324E	SCML1_ENST00000380043.3_Missense_Mutation_p.G297E|SCML1_ENST00000398080.1_Missense_Mutation_p.G203E|SCML1_ENST00000380045.3_Missense_Mutation_p.G203E	NM_001037540.1	NP_001032629.1	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 (Drosophila)	324	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10	Hepatocellular(33;0.183)					CTTAAACAAGGAAAATGCTTT	0.448																																						ENST00000380043.3																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10						c.(889-891)gGa>gAa		sex comb on midleg-like 1 (Drosophila)							86.0	80.0	82.0					X																	17771493		2203	4300	6503	SO:0001583	missense	6322				anatomical structure morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:17771493G>A		CCDS14182.2, CCDS35210.1, CCDS35211.1	Xp22	2013-01-10	2001-11-28		ENSG00000047634	ENSG00000047634		"""Sterile alpha motif (SAM) domain containing"""	10580	protein-coding gene	gene with protein product		300227	"""sex comb on midleg (Drosophila)-like 1"""			9570953	Standard	XM_005274578		Approved		uc004cyc.3	Q9UN30	OTTHUMG00000021206	ENST00000380041.3:c.971G>A	X.37:g.17771493G>A	ENSP00000369380:p.Gly324Glu					SCML1_ENST00000380041.3_Missense_Mutation_p.G324E|SCML1_ENST00000380045.3_Missense_Mutation_p.G203E|SCML1_ENST00000398080.1_Missense_Mutation_p.G203E	p.G297E	NM_006746.4	NP_006737.2	Q9UN30	SCML1_HUMAN			7	1218	+	Hepatocellular(33;0.183)		324			SAM.		B0FZN6|B2RA08|Q5H968|Q5H969	Missense_Mutation	SNP	ENST00000380041.3	37	c.890G>A	CCDS35210.1	.	.	.	.	.	.	.	.	.	.	.	10.59	1.392090	0.25118	.	.	ENSG00000047634	ENST00000380045;ENST00000380041;ENST00000380043;ENST00000398080	.	.	.	4.33	-3.0	0.05480	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);	0.976288	0.08348	N	0.959675	T	0.28699	0.0711	L	0.32530	0.975	0.09310	N	1	B;B	0.23990	0.095;0.057	B;B	0.21360	0.034;0.015	T	0.25257	-1.0137	9	0.32370	T	0.25	-0.9843	9.6136	0.39679	0.1984:0.1468:0.6548:0.0	.	297;324	Q9UN30-2;Q9UN30	.;SCML1_HUMAN	E	203;324;297;203	.	ENSP00000369380:G324E	G	+	2	0	SCML1	17681414	0.967000	0.33354	0.000000	0.03702	0.014000	0.08584	1.315000	0.33608	-0.502000	0.06596	-0.322000	0.08575	GGA		0.448	SCML1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060495.5	NM_006746		14	11	0	0	0	1	0	14	11				
MGA	23269	broad.mit.edu	37	15	42052633	42052633	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr15:42052633G>A	ENST00000570161.1	+	19	7304	c.7304G>A	c.(7303-7305)cGg>cAg	p.R2435Q	MGA_ENST00000389936.4_Missense_Mutation_p.R2396Q|MGA_ENST00000545763.1_Missense_Mutation_p.R2226Q|MGA_ENST00000566586.1_Missense_Mutation_p.R2226Q|MGA_ENST00000219905.7_Missense_Mutation_p.R2435Q			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					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)	p.R2484Q(4)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GAGCGGCGGCGGCGTGGTGAA	0.438																																						ENST00000219905.7																			4	Substitution - Missense(4)	p.R2484Q(4)	ovary(2)|large_intestine(1)|central_nervous_system(1)	NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(7303-7305)cGg>cAg		MGA, MAX dimerization protein							109.0	111.0	110.0					15																	42052633		1900	4109	6009	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42052633G>A	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.7304G>A	15.37:g.42052633G>A	ENSP00000457035:p.Arg2435Gln					MGA_ENST00000566586.1_Missense_Mutation_p.R2226Q|MGA_ENST00000570161.1_Missense_Mutation_p.R2435Q|MGA_ENST00000545763.1_Missense_Mutation_p.R2226Q|MGA_ENST00000389936.4_Missense_Mutation_p.R2396Q	p.R2435Q	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	20	7485	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	2396			Helix-loop-helix motif.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.7304G>A	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	G	34	5.296335	0.95574	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.99722	-6.53;-6.53;-6.53	5.53	5.53	0.82687	.	0.000000	0.49305	D	0.000156	D	0.99711	0.9889	M	0.83223	2.63	0.31601	N	0.652706	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.997;0.978	D	0.97541	1.0086	10	0.87932	D	0	.	19.4485	0.94857	0.0:0.0:1.0:0.0	.	1051;2226;2435	B4DVS1;F5H7K2;E7ENI0	.;.;.	Q	2435;2396;2226	ENSP00000219905:R2435Q;ENSP00000374586:R2396Q;ENSP00000442467:R2226Q	ENSP00000219905:R2435Q	R	+	2	0	MGA	39839925	0.999000	0.42202	0.998000	0.56505	0.992000	0.81027	7.159000	0.77483	2.583000	0.87209	0.655000	0.94253	CGG		0.438	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		26	101	0	0	0	1	0	26	101				
VPS45	11311	broad.mit.edu	37	1	150117082	150117082	+	3'UTR	SNP	G	G	A	rs587696715		TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr1:150117082G>A	ENST00000369130.3	+	0	2367				VPS45_ENST00000369128.5_Missense_Mutation_p.E534K|VPS45_ENST00000484306.1_3'UTR	NM_001279354.1|NM_007259.3	NP_001266283.1|NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)						blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|vesicle docking involved in exocytosis (GO:0006904)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGGTTGTTAGAACTCATCTC	0.507																																						ENST00000369128.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(1600-1602)Gaa>Aaa		vacuolar protein sorting 45 homolog (S. cerevisiae)																																				SO:0001624	3_prime_UTR_variant	11311				blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	endosome membrane|Golgi membrane|integral to membrane of membrane fraction		g.chr1:150117082G>A	U35246	CCDS944.1, CCDS60244.1, CCDS72904.1	1q21.2	2008-02-05	2006-12-19	2006-12-19	ENSG00000136631	ENSG00000136631			14579	protein-coding gene	gene with protein product		610035	"""vacuolar protein sorting 45A (yeast homolog)"", ""vacuolar protein sorting 45A (yeast)"""	VPS45B, VPS45A		8996080	Standard	NM_007259		Approved	h-vps45, H1	uc001etp.3	Q9NRW7	OTTHUMG00000012511	ENST00000369130.3:c.*108G>A	1.37:g.150117082G>A						VPS45_ENST00000484306.1_3'UTR|VPS45_ENST00000369130.3_3'UTR	p.E534K			Q9NRW7	VPS45_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		14	1840	+	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		0					D3DUZ9|F5H8K1|Q15715|Q53FR8|Q5T4P6|Q9Y4Z6	Missense_Mutation	SNP	ENST00000369130.3	37	c.1600G>A	CCDS944.1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.553591	0.27739	.	.	ENSG00000136631	ENST00000369128	T	0.66995	-0.24	4.93	-1.98	0.07480	.	.	.	.	.	T	0.28200	0.0696	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30765	-0.9967	8	0.87932	D	0	.	3.4904	0.07636	0.1339:0.09:0.4884:0.2878	.	534	F5H8K1	.	K	534	ENSP00000358124:E534K	ENSP00000358124:E534K	E	+	1	0	VPS45	148383706	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	-1.198000	0.03035	-0.179000	0.10654	-0.262000	0.10625	GAA		0.507	VPS45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034964.1	NM_007259		3	12	0	0	0	1	0	3	12				
KCTD19	146212	broad.mit.edu	37	16	67333315	67333315	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr16:67333315C>T	ENST00000304372.5	-	6	992	c.937G>A	c.(937-939)Gga>Aga	p.G313R	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	313					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		AGTCGGCTTCCGTCTAGCGTG	0.597																																						ENST00000304372.5																			0				endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23						c.(937-939)Gga>Aga		potassium channel tetramerization domain containing 19							88.0	94.0	92.0					16																	67333315		2113	4225	6338	SO:0001583	missense	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67333315C>T	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.937G>A	16.37:g.67333315C>T	ENSP00000305702:p.Gly313Arg					KCTD19_ENST00000562860.1_5'UTR	p.G313R	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	6	992	-		Ovarian(137;0.192)	313					B4DZ49|Q8N804	Missense_Mutation	SNP	ENST00000304372.5	37	c.937G>A	CCDS42179.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.987095	0.35036	.	.	ENSG00000168676	ENST00000304372	T	0.59502	0.26	5.77	5.77	0.91146	.	0.093398	0.47852	D	0.000220	T	0.28928	0.0718	N	0.12182	0.205	0.37003	D	0.895369	P	0.47409	0.895	B	0.28784	0.094	T	0.41466	-0.9507	10	0.08837	T	0.75	-20.8816	13.4888	0.61382	0.0:0.8436:0.1564:0.0	.	313	Q17RG1	KCD19_HUMAN	R	313	ENSP00000305702:G313R	ENSP00000305702:G313R	G	-	1	0	KCTD19	65890816	0.599000	0.26891	0.852000	0.33557	0.466000	0.32739	1.436000	0.34980	2.884000	0.98904	0.655000	0.94253	GGA		0.597	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		27	57	0	0	0	1	0	27	57				
AKAP6	9472	broad.mit.edu	37	14	33291632	33291632	+	Missense_Mutation	SNP	G	G	A	rs539925484		TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr14:33291632G>A	ENST00000280979.4	+	13	4783	c.4613G>A	c.(4612-4614)cGc>cAc	p.R1538H	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1538					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GAAATGGATCGCATTTCATAT	0.378																																					Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4																			0				NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122						c.(4612-4614)cGc>cAc		A kinase (PRKA) anchor protein 6							101.0	106.0	104.0					14																	33291632		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33291632G>A	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.4613G>A	14.37:g.33291632G>A	ENSP00000280979:p.Arg1538His					AKAP6_ENST00000557272.1_Intron	p.R1538H	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	4783	+	Breast(36;0.0388)|Prostate(35;0.15)		1538					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.4613G>A	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	G	7.156	0.584653	0.13749	.	.	ENSG00000151320	ENST00000280979	T	0.05382	3.45	5.79	-2.85	0.05734	.	1.023020	0.07735	N	0.945835	T	0.07279	0.0184	L	0.54323	1.7	0.27106	N	0.962509	B	0.11235	0.004	B	0.04013	0.001	T	0.39502	-0.9611	10	0.52906	T	0.07	-0.1202	8.0443	0.30540	0.5663:0.1901:0.2436:0.0	.	1538	Q13023	AKAP6_HUMAN	H	1538	ENSP00000280979:R1538H	ENSP00000280979:R1538H	R	+	2	0	AKAP6	32361383	0.070000	0.21116	0.045000	0.18777	0.979000	0.70002	-0.007000	0.12810	-0.472000	0.06881	-0.897000	0.02905	CGC		0.378	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		24	52	0	0	0	1	0	24	52				
NCOA3	8202	broad.mit.edu	37	20	46279860	46279860	+	Silent	SNP	G	G	A	rs151060280	byFrequency	TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr20:46279860G>A	ENST00000371998.3	+	20	3977	c.3786G>A	c.(3784-3786)caG>caA	p.Q1262Q	NCOA3_ENST00000341724.6_Silent_p.Q1188Q|NCOA3_ENST00000372004.3_Silent_p.Q1258Q|NCOA3_ENST00000371997.3_Silent_p.Q1253Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1262	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q1262Q(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcaacagc	0.567																																						ENST00000372004.3																			1	Substitution - coding silent(1)	p.Q1262Q(1)	endometrium(1)	breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(3772-3774)caG>caA		nuclear receptor coactivator 3		G	,,,	10,4396	11.4+/-27.6	1,8,2194	53.0	58.0	56.0		3783,3759,3774,3786	-0.1	0.1	20	dbSNP_134	56	12,8588	9.1+/-34.3	0,12,4288	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NCOA3	NM_001174087.1,NM_001174088.1,NM_006534.3,NM_181659.2	,,,	1,20,6482	AA,AG,GG		0.1395,0.227,0.1692	,,,	1261/1424,1253/1416,1258/1421,1262/1425	46279860	22,12984	2203	4300	6503	SO:0001819	synonymous_variant	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46279860G>A	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3786G>A	20.37:g.46279860G>A						NCOA3_ENST00000341724.6_Silent_p.Q1188Q|NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000371998.3_Silent_p.Q1262Q	p.Q1258Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN			20	3990	+			1262			Acetyltransferase.|Poly-Gln.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	c.3774G>A	CCDS13407.1																																																																																				0.567	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		4	48	0	0	0	1	0	4	48				
ALPK3	57538	broad.mit.edu	37	15	85403074	85403074	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr15:85403074C>T	ENST00000258888.5	+	8	4806	c.4639C>T	c.(4639-4641)Cgg>Tgg	p.R1547W		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1547	Ig-like 2.				heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CGGTGTGTATCGGTGCACCAT	0.687																																						ENST00000258888.5																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(4639-4641)Cgg>Tgg		alpha-kinase 3							49.0	45.0	47.0					15																	85403074		2203	4299	6502	SO:0001583	missense	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85403074C>T	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.4639C>T	15.37:g.85403074C>T	ENSP00000258888:p.Arg1547Trp						p.R1547W	NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		8	4806	+			1547			Ig-like 2.		Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	c.4639C>T	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.789579	0.70337	.	.	ENSG00000136383	ENST00000258888	T	0.44083	0.93	5.52	5.52	0.82312	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.234278	0.36374	N	0.002631	T	0.59972	0.2233	L	0.54323	1.7	0.09310	N	1	D	0.89917	1.0	D	0.68765	0.96	T	0.55042	-0.8202	10	0.62326	D	0.03	-12.4024	16.929	0.86184	0.0:1.0:0.0:0.0	.	1547	Q96L96	ALPK3_HUMAN	W	1547	ENSP00000258888:R1547W	ENSP00000258888:R1547W	R	+	1	2	ALPK3	83204078	0.040000	0.19996	0.789000	0.31954	0.985000	0.73830	2.257000	0.43240	2.599000	0.87857	0.563000	0.77884	CGG		0.687	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		13	49	0	0	0	1	0	13	49				
AHDC1	27245	broad.mit.edu	37	1	27878340	27878340	+	Missense_Mutation	SNP	C	C	T	rs144777795		TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr1:27878340C>T	ENST00000247087.5	-	5	883	c.287G>A	c.(286-288)cGc>cAc	p.R96H	AHDC1_ENST00000374011.2_Missense_Mutation_p.R96H			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	96	Pro-rich.						DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TGTGGGGCAGCGGGCCTGTGA	0.711																																						ENST00000374011.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(286-288)cGc>cAc		AT hook, DNA binding motif, containing 1		C	HIS/ARG	3,4369		0,3,2183	39.0	46.0	44.0		287	1.0	1.0	1	dbSNP_134	44	0,8510		0,0,4255	no	missense	AHDC1	NM_001029882.2	29	0,3,6438	TT,TC,CC		0.0,0.0686,0.0233	probably-damaging	96/1604	27878340	3,12879	2186	4255	6441	SO:0001583	missense	27245						DNA binding	g.chr1:27878340C>T	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.287G>A	1.37:g.27878340C>T	ENSP00000247087:p.Arg96His					AHDC1_ENST00000482400.2_5'UTR|AHDC1_ENST00000247087.5_Missense_Mutation_p.R96H	p.R96H	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	6	1255	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	96			Pro-rich.		Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	ENST00000247087.5	37	c.287G>A	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	C	11.61	1.689785	0.29962	6.86E-4	0.0	ENSG00000126705	ENST00000247087;ENST00000374011;ENST00000407475	T;T	0.46063	0.88;0.88	4.03	0.97	0.19692	.	.	.	.	.	T	0.20495	0.0493	N	0.08118	0	0.22389	N	0.999141	B	0.14012	0.009	B	0.04013	0.001	T	0.20773	-1.0265	9	0.28530	T	0.3	-3.6436	7.7114	0.28679	0.0:0.6908:0.0:0.3092	.	96	Q5TGY3	AHDC1_HUMAN	H	96	ENSP00000247087:R96H;ENSP00000363123:R96H	ENSP00000247087:R96H	R	-	2	0	AHDC1	27750927	0.981000	0.34729	0.998000	0.56505	0.930000	0.56654	0.045000	0.14013	0.276000	0.22118	0.305000	0.20034	CGC		0.711	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			34	72	0	0	0	1	0	34	72				
TTF2	8458	broad.mit.edu	37	1	117631445	117631445	+	Missense_Mutation	SNP	G	G	A	rs200362905		TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr1:117631445G>A	ENST00000369466.4	+	13	2227	c.2183G>A	c.(2182-2184)cGa>cAa	p.R728Q		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	728	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CCTTTGCTTCGAATAGCCTGG	0.468																																						ENST00000369466.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50						c.(2182-2184)cGa>cAa		transcription termination factor, RNA polymerase II							126.0	115.0	119.0					1																	117631445		2203	4300	6503	SO:0001583	missense	8458				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding	g.chr1:117631445G>A	AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 6"""	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.2183G>A	1.37:g.117631445G>A	ENSP00000358478:p.Arg728Gln						p.R728Q	NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)	13	2227	+	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)	728			Helicase ATP-binding.		A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Missense_Mutation	SNP	ENST00000369466.4	37	c.2183G>A	CCDS892.1	.	.	.	.	.	.	.	.	.	.	G	9.927	1.213808	0.22289	.	.	ENSG00000116830	ENST00000369466	D	0.92348	-3.02	5.8	-2.01	0.07410	DEAD-like helicase (2);SNF2-related (1);	0.961818	0.08446	N	0.944739	T	0.68118	0.2966	N	0.20574	0.59	0.23594	N	0.997334	B	0.29936	0.262	B	0.22753	0.041	T	0.58696	-0.7591	10	0.09590	T	0.72	-0.8362	13.038	0.58882	0.5071:0.0:0.4929:0.0	.	728	Q9UNY4	TTF2_HUMAN	Q	728	ENSP00000358478:R728Q	ENSP00000358478:R728Q	R	+	2	0	TTF2	117432968	0.668000	0.27493	0.009000	0.14445	0.968000	0.65278	1.605000	0.36815	-0.486000	0.06744	-0.813000	0.03139	CGA		0.468	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033277.3			23	72	0	0	0	1	0	23	72				
DENND5B	160518	broad.mit.edu	37	12	31542369	31542369	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr12:31542369A>T	ENST00000389082.5	-	20	3794	c.3530T>A	c.(3529-3531)aTt>aAt	p.I1177N	DENND5B_ENST00000536562.1_Missense_Mutation_p.I1212N|DENND5B_ENST00000306833.6_Missense_Mutation_p.I1212N	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	1177	RUN 2. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TGATTTCTGAATAAGGACATC	0.368																																						ENST00000389082.5																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(3529-3531)aTt>aAt		DENN/MADD domain containing 5B							82.0	76.0	78.0					12																	31542369		1881	4105	5986	SO:0001583	missense	160518					integral to membrane		g.chr12:31542369A>T	AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.3530T>A	12.37:g.31542369A>T	ENSP00000373734:p.Ile1177Asn					DENND5B_ENST00000306833.6_Missense_Mutation_p.I1212N|DENND5B_ENST00000536562.1_Missense_Mutation_p.I1212N	p.I1177N	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN			20	3794	-			1177			RUN 2.		B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	ENST00000389082.5	37	c.3530T>A	CCDS44857.1	.	.	.	.	.	.	.	.	.	.	A	7.624	0.677467	0.14841	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562	T;T;T	0.28255	1.62;1.62;1.62	4.34	1.81	0.25067	RUN (2);	0.623793	0.14648	N	0.306767	T	0.08044	0.0201	N	0.00538	-1.39	0.23816	N	0.996761	B;B	0.28850	0.002;0.225	B;B	0.26094	0.012;0.066	T	0.33343	-0.9872	10	0.18710	T	0.47	-14.4831	9.0308	0.36258	0.8398:0.0:0.1602:0.0	.	1177;1212	Q6ZUT9;G3V1S3	DEN5B_HUMAN;.	N	1177;1212;1212	ENSP00000373734:I1177N;ENSP00000306482:I1212N;ENSP00000444889:I1212N	ENSP00000306482:I1212N	I	-	2	0	DENND5B	31433636	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	3.902000	0.56310	0.669000	0.31146	0.477000	0.44152	ATT		0.368	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973		7	13	0	0	0	1	0	7	13				
SPACA7	122258	broad.mit.edu	37	13	113030772	113030772	+	Missense_Mutation	SNP	C	C	T	rs376712879		TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr13:113030772C>T	ENST00000283550.3	+	1	140	c.73C>T	c.(73-75)Cgg>Tgg	p.R25W		NM_145248.4	NP_660291.2	Q96KW9	SPAC7_HUMAN	sperm acrosome associated 7	25			R -> W (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.			acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)		p.R25W(1)		large_intestine(5)|lung(4)|skin(3)|urinary_tract(1)	13						AACTGAGCTCCGGCCGAGAAC	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		17118	0.001		0.0	False		,,,				2504	0.0					ENST00000283550.3																			1	Substitution - Missense(1)	p.R25W(1)	large_intestine(1)	large_intestine(5)|lung(4)|skin(3)|urinary_tract(1)	13						c.(73-75)Cgg>Tgg		sperm acrosome associated 7		C	TRP/ARG	0,4406		0,0,2203	70.0	55.0	60.0		73	-0.8	0.0	13		60	1,8599	1.2+/-3.3	0,1,4299	no	missense	SPACA7	NM_145248.4	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	25/196	113030772	1,13005	2203	4300	6503	SO:0001583	missense	122258					extracellular region		g.chr13:113030772C>T	BC016750	CCDS9524.1	13q34	2013-10-11	2011-03-15	2011-03-15	ENSG00000153498	ENSG00000153498			29575	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 28"""	C13orf28		22495889	Standard	NM_145248		Approved		uc001vsd.2	Q96KW9	OTTHUMG00000017365	ENST00000283550.3:c.73C>T	13.37:g.113030772C>T	ENSP00000283550:p.Arg25Trp						p.R25W	NM_145248.4	NP_660291.2	Q96KW9	SPAC7_HUMAN			1	140	+			25		R -> W (in a colorectal cancer sample; somatic mutation).			Q5T8L1	Missense_Mutation	SNP	ENST00000283550.3	37	c.73C>T	CCDS9524.1	.	.	.	.	.	.	.	.	.	.	C	6.506	0.461475	0.12342	0.0	1.16E-4	ENSG00000153498	ENST00000283550	T	0.44881	0.91	3.37	-0.781	0.10965	.	.	.	.	.	T	0.16769	0.0403	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.15809	-1.0424	9	0.54805	T	0.06	-0.322	3.0095	0.06039	0.3648:0.4099:0.0:0.2253	.	25	Q96KW9	SPAC7_HUMAN	W	25	ENSP00000283550:R25W	ENSP00000283550:R25W	R	+	1	2	SPACA7	112078773	0.005000	0.15991	0.000000	0.03702	0.000000	0.00434	0.683000	0.25349	-0.357000	0.08175	-1.512000	0.00943	CGG		0.607	SPACA7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045820.2	NM_145248		10	8	0	0	0	1	0	10	8				
XIST	7503	broad.mit.edu	37	X	73071996	73071996	+	lincRNA	SNP	T	T	A	rs557536330		TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chrX:73071996T>A	ENST00000429829.1	-	0	592					NR_001564.2				X inactive specific transcript (non-protein coding)																		AGAAAATTTTTAAAAAGCAGA	0.458													T|||	16	0.00423841	0.0113	0.0014	3775	,	,		10716	0.0		0.0	False		,,,				2504	0.0					ENST00000429829.1																			0																				14.0	14.0	14.0					X																	73071996		875	1988	2863			7503							g.chrX:73071996T>A	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73071996T>A								NR_001564.2						0	592	-									RNA	SNP	ENST00000429829.1	37																																																																																						0.458	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		7	7	0	0	0	1	0	7	7				
RRBP1	6238	broad.mit.edu	37	20	17610502	17610502	+	Silent	SNP	G	G	A	rs143484132		TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr20:17610502G>A	ENST00000377813.1	-	9	3018	c.2715C>T	c.(2713-2715)gcC>gcT	p.A905A	RRBP1_ENST00000246043.4_Silent_p.A905A|RRBP1_ENST00000455029.2_Silent_p.A246A|RRBP1_ENST00000360807.4_Silent_p.A472A|RRBP1_ENST00000377807.2_Silent_p.A472A			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	905					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						GGGCCTTCTCGGCATCCGCCC	0.711																																						ENST00000377813.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						c.(2713-2715)gcC>gcT		ribosome binding protein 1		G	,	0,4404		0,0,2202	31.0	33.0	32.0		1416,1416	-8.8	0.0	20	dbSNP_134	32	2,8594	2.2+/-6.3	0,2,4296	no	coding-synonymous,coding-synonymous	RRBP1	NM_001042576.1,NM_004587.2	,	0,2,6498	AA,AG,GG		0.0233,0.0,0.0154	,	472/978,472/978	17610502	2,12998	2202	4298	6500	SO:0001819	synonymous_variant	6238				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity	g.chr20:17610502G>A	AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"""ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)"""			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.2715C>T	20.37:g.17610502G>A						RRBP1_ENST00000246043.4_Silent_p.A905A|RRBP1_ENST00000455029.2_Silent_p.A246A|RRBP1_ENST00000377807.2_Silent_p.A472A|RRBP1_ENST00000360807.4_Silent_p.A472A	p.A905A			Q9P2E9	RRBP1_HUMAN			9	3018	-			905					A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Silent	SNP	ENST00000377813.1	37	c.2715C>T																																																																																					0.711	RRBP1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000078125.1	NM_001042576		10	33	0	0	0	1	0	10	33				
EPHB1	2047	broad.mit.edu	37	3	134825395	134825395	+	Missense_Mutation	SNP	G	G	T	rs371780361		TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr3:134825395G>T	ENST00000398015.3	+	4	1281	c.911G>T	c.(910-912)cGg>cTg	p.R304L	EPHB1_ENST00000493838.1_5'UTR|EPHB1_ENST00000488154.1_3'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	304	Cys-rich.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)	p.R304Q(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TGCACCTGTCGGACCGGTTAT	0.592																																						ENST00000398015.3																			2	Substitution - Missense(2)	p.R304Q(2)	upper_aerodigestive_tract(2)	NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(910-912)cGg>cTg		EPH receptor B1							57.0	58.0	58.0					3																	134825395		1925	4135	6060	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134825395G>T	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.911G>T	3.37:g.134825395G>T	ENSP00000381097:p.Arg304Leu					EPHB1_ENST00000488154.1_3'UTR|EPHB1_ENST00000493838.1_5'UTR	p.R304L	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN			4	1281	+			304			Cys-rich.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.911G>T	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	G	33	5.211026	0.95069	.	.	ENSG00000154928	ENST00000398015	D	0.97279	-4.32	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.97679	0.9239	L	0.44542	1.39	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	D	0.97828	1.0261	10	0.48119	T	0.1	.	19.8411	0.96685	0.0:0.0:1.0:0.0	.	304	P54762	EPHB1_HUMAN	L	304	ENSP00000381097:R304L	ENSP00000381097:R304L	R	+	2	0	EPHB1	136308085	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.905000	0.87416	2.683000	0.91414	0.655000	0.94253	CGG		0.592	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		10	27	1	0	0.000442599	1	0.000450647	10	27				
IRF2BP1	26145	broad.mit.edu	37	19	46388200	46388200	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr19:46388200T>C	ENST00000302165.3	-	1	1176	c.833A>G	c.(832-834)tAc>tGc	p.Y278C		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	278					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)			cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		ACCACAGGGGTATTCGGTGAA	0.617																																						ENST00000302165.3																			0				cervix(1)|kidney(1)|lung(2)	4						c.(832-834)tAc>tGc		interferon regulatory factor 2 binding protein 1							56.0	58.0	57.0					19																	46388200		2203	4300	6503	SO:0001583	missense	26145				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr19:46388200T>C	AY278022	CCDS12678.1	19q13.32	2008-02-05							21728	protein-coding gene	gene with protein product		615331				12799427	Standard	NM_015649		Approved	DKFZP434M154, IRF-2BP1	uc002pds.1	Q8IU81		ENST00000302165.3:c.833A>G	19.37:g.46388200T>C	ENSP00000307265:p.Tyr278Cys						p.Y278C	NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)	1	1176	-		all_neural(266;0.113)|Ovarian(192;0.127)	278					Q53EL7|Q6DC95|Q9BRZ9|Q9Y4P4	Missense_Mutation	SNP	ENST00000302165.3	37	c.833A>G	CCDS12678.1	.	.	.	.	.	.	.	.	.	.	T	18.81	3.703548	0.68501	.	.	ENSG00000170604	ENST00000302165	T	0.21734	1.99	4.66	4.66	0.58398	.	0.000000	0.64402	D	0.000013	T	0.37517	0.1006	L	0.46157	1.445	0.52099	D	0.999943	D	0.89917	1.0	D	0.73708	0.981	T	0.14783	-1.0460	10	0.87932	D	0	.	12.0971	0.53761	0.0:0.0:0.0:1.0	.	278	Q8IU81	I2BP1_HUMAN	C	278	ENSP00000307265:Y278C	ENSP00000307265:Y278C	Y	-	2	0	IRF2BP1	51080040	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	4.572000	0.60886	1.948000	0.56530	0.454000	0.30748	TAC		0.617	IRF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461683.1	NM_015649		15	38	0	0	0	1	0	15	38				
JPH3	57338	broad.mit.edu	37	16	87678390	87678390	+	Silent	SNP	C	C	T			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr16:87678390C>T	ENST00000284262.2	+	2	1151	c.909C>T	c.(907-909)agC>agT	p.S303S		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	303					calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		TCGGCGTGAGCCAGCGCTCGG	0.672																																						ENST00000284262.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(907-909)agC>agT		junctophilin 3							73.0	75.0	75.0					16																	87678390		2198	4300	6498	SO:0001819	synonymous_variant	57338				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding	g.chr16:87678390C>T	AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"""trinucleotide repeat containing 22"""	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.909C>T	16.37:g.87678390C>T							p.S303S	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0287)	2	1151	+			303					D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Silent	SNP	ENST00000284262.2	37	c.909C>T	CCDS10962.1																																																																																				0.672	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269108.2			13	49	0	0	0	1	0	13	49				
NOTCH1	4851	broad.mit.edu	37	9	139412375	139412375	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr9:139412375C>T	ENST00000277541.6	-	8	1345	c.1270G>A	c.(1270-1272)Gag>Aag	p.E424K	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	424	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E424K(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCCGCATGCTCGCAGGGGTTG	0.662			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		2	Substitution - Missense(2)	p.E424K(2)	upper_aerodigestive_tract(2)	breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(1270-1272)Gag>Aag		notch 1							33.0	38.0	36.0					9																	139412375		2192	4287	6479	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139412375C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1270G>A	9.37:g.139412375C>T	ENSP00000277541:p.Glu424Lys	HNSCC(8;0.001)					p.E424K	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	8	1345	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	424			EGF-like 11; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.1270G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.045415	0.93685	.	.	ENSG00000148400	ENST00000277541	D	0.87334	-2.24	4.57	4.57	0.56435	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.87192	0.6116	N	0.12920	0.275	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86547	0.1832	10	0.28530	T	0.3	.	16.3317	0.83023	0.0:1.0:0.0:0.0	.	424	P46531	NOTC1_HUMAN	K	424	ENSP00000277541:E424K	ENSP00000277541:E424K	E	-	1	0	NOTCH1	138532196	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.807000	0.62576	2.088000	0.63022	0.462000	0.41574	GAG		0.662	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		26	63	0	0	0	1	0	26	63				
ATP10A	57194	broad.mit.edu	37	15	25924598	25924598	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr15:25924598C>G	ENST00000356865.6	-	21	4501	c.4390G>C	c.(4390-4392)Gat>Cat	p.D1464H		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1464					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCTTGTCCATCTGCAAGCTGC	0.577																																						ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(4390-4392)Gat>Cat		ATPase, class V, type 10A							55.0	57.0	56.0					15																	25924598		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25924598C>G	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.4390G>C	15.37:g.25924598C>G	ENSP00000349325:p.Asp1464His						p.D1464H	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	21	4501	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	1464					Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.4390G>C	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	C	10.77	1.443217	0.25987	.	.	ENSG00000206190	ENST00000356865	T	0.12255	2.7	5.26	-1.71	0.08133	.	3.937710	0.00465	N	0.000116	T	0.07143	0.0181	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32534	-0.9903	10	0.51188	T	0.08	-3.3031	2.926	0.05784	0.1241:0.3289:0.3678:0.1793	.	1464	O60312	AT10A_HUMAN	H	1464	ENSP00000349325:D1464H	ENSP00000349325:D1464H	D	-	1	0	ATP10A	23475691	0.029000	0.19370	0.000000	0.03702	0.000000	0.00434	-0.098000	0.11024	-0.138000	0.11434	-0.150000	0.13652	GAT		0.577	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		44	48	0	0	0	1	0	44	48				
POMGNT2	84892	broad.mit.edu	37	3	43122695	43122695	+	Missense_Mutation	SNP	G	G	A	rs143806708		TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr3:43122695G>A	ENST00000344697.2	-	2	574	c.229C>T	c.(229-231)Cgc>Tgc	p.R77C	POMGNT2_ENST00000441964.1_Missense_Mutation_p.R77C	NM_032806.5	NP_116195.2	Q8NAT1	PMGT2_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)	77					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein O-GlcNAc transferase activity (GO:0097363)										CGGCAGATGCGGTCTGTGTGC	0.612																																						ENST00000344697.2																			0											c.(229-231)Cgc>Tgc				G	CYS/ARG	0,4406		0,0,2203	83.0	74.0	77.0		229	5.8	1.0	3	dbSNP_134	77	1,8599	1.2+/-3.3	0,1,4299	no	missense	C3orf39	NM_032806.4	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	77/581	43122695	1,13005	2203	4300	6503	SO:0001583	missense	84892							g.chr3:43122695G>A	AK092147	CCDS2709.1	3p22.1	2014-07-15	2013-08-22	2013-08-22	ENSG00000144647	ENSG00000144647			25902	protein-coding gene	gene with protein product		614828	"""chromosome 3 open reading frame 39"", ""glycosyltransferase-like domain containing 2"""	C3orf39, GTDC2		12477932	Standard	NM_032806		Approved	FLJ14566, AGO61	uc003cmr.2	Q8NAT1	OTTHUMG00000133038	ENST00000344697.2:c.229C>T	3.37:g.43122695G>A	ENSP00000344125:p.Arg77Cys					GTDC2_ENST00000441964.1_Missense_Mutation_p.R77C	p.R77C	NM_032806.4	NP_116195.2					2	574	-								B3KWC3|Q96SY3	Missense_Mutation	SNP	ENST00000344697.2	37	c.229C>T	CCDS2709.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.374269	0.82573	0.0	1.16E-4	ENSG00000144647	ENST00000441964;ENST00000344697	D;D	0.89123	-2.47;-2.47	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.94417	0.8204	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.94538	0.7742	10	0.87932	D	0	-9.003	18.9302	0.92561	0.0:0.0:1.0:0.0	.	77	Q8NAT1	AGO61_HUMAN	C	77	ENSP00000408992:R77C;ENSP00000344125:R77C	ENSP00000344125:R77C	R	-	1	0	C3orf39	43097699	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.869000	0.99810	2.714000	0.92807	0.561000	0.74099	CGC		0.612	POMGNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256643.1	NM_032806		22	45	0	0	0	1	0	22	45				
ATP10A	57194	broad.mit.edu	37	15	25953381	25953381	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr15:25953381G>A	ENST00000356865.6	-	11	2522	c.2411C>T	c.(2410-2412)gCg>gTg	p.A804V		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	804					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCCTTCCGCCGCATACACGTT	0.567																																						ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(2410-2412)gCg>gTg		ATPase, class V, type 10A							127.0	109.0	115.0					15																	25953381		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25953381G>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2411C>T	15.37:g.25953381G>A	ENSP00000349325:p.Ala804Val						p.A804V	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	11	2522	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	804					Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.2411C>T	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.517745	0.85495	.	.	ENSG00000206190	ENST00000356865	D	0.86562	-2.14	4.84	4.84	0.62591	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.96306	0.8795	H	0.98276	4.19	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.98372	1.0554	10	0.87932	D	0	-25.4666	17.9717	0.89115	0.0:0.0:1.0:0.0	.	804	O60312	AT10A_HUMAN	V	804	ENSP00000349325:A804V	ENSP00000349325:A804V	A	-	2	0	ATP10A	23504474	1.000000	0.71417	0.143000	0.22291	0.460000	0.32559	9.539000	0.98076	2.231000	0.72958	0.655000	0.94253	GCG		0.567	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		4	137	0	0	0	1	0	4	137				
KCTD8	386617	broad.mit.edu	37	4	44177049	44177049	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr4:44177049T>C	ENST00000360029.3	-	2	1463	c.1180A>G	c.(1180-1182)Aaa>Gaa	p.K394E		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	394					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						GGTGCTTTTTTAGAGGGGCGA	0.507										HNSCC(17;0.042)																												ENST00000360029.3																			0				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						c.(1180-1182)Aaa>Gaa		potassium channel tetramerization domain containing 8							166.0	168.0	168.0					4																	44177049		2203	4300	6503	SO:0001583	missense	386617					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr4:44177049T>C	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 8"""				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.1180A>G	4.37:g.44177049T>C	ENSP00000353129:p.Lys394Glu	HNSCC(17;0.042)					p.K394E	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN			2	1463	-			394					A2RU39	Missense_Mutation	SNP	ENST00000360029.3	37	c.1180A>G	CCDS3467.1	.	.	.	.	.	.	.	.	.	.	T	7.720	0.696901	0.15106	.	.	ENSG00000183783	ENST00000360029	T	0.40225	1.04	4.56	2.04	0.26737	.	0.120051	0.36066	N	0.002803	T	0.28732	0.0712	L	0.32530	0.975	0.23168	N	0.998183	B	0.17852	0.024	B	0.14578	0.011	T	0.24190	-1.0167	10	0.87932	D	0	.	6.9471	0.24524	0.0:0.0801:0.1498:0.7701	.	394	Q6ZWB6	KCTD8_HUMAN	E	394	ENSP00000353129:K394E	ENSP00000353129:K394E	K	-	1	0	KCTD8	43871806	1.000000	0.71417	0.999000	0.59377	0.101000	0.19017	4.552000	0.60747	0.330000	0.23485	-0.256000	0.11100	AAA		0.507	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1			54	107	0	0	0	1	0	54	107				
RPS6KA1	6195	broad.mit.edu	37	1	26887287	26887288	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr1:26887287_26887288insCT	ENST00000374168.2	+	15	1440_1441	c.1286_1287insCT	c.(1285-1290)tactctfs	p.YS429fs	RPS6KA1_ENST00000526792.1_Frame_Shift_Ins_p.YS337fs|RPS6KA1_ENST00000531382.1_Frame_Shift_Ins_p.YS438fs|RPS6KA1_ENST00000374162.2_Frame_Shift_Ins_p.YS337fs|RPS6KA1_ENST00000374166.4_Frame_Shift_Ins_p.YS418fs|RPS6KA1_ENST00000530003.1_Frame_Shift_Ins_p.YS413fs	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	429	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GTGGGCTCCTACTCTGAGTGCA	0.559																																						ENST00000374168.2																			0				lung(1)	1						c.(1285-1287)ttcfs		ribosomal protein S6 kinase, 90kDa, polypeptide 1																																				SO:0001589	frameshift_variant	6195				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:26887287_26887288insCT	BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"""ribosomal protein S6 kinase, 90kD, polypeptide 1"""			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.1289_1290dupCT	1.37:g.26887290_26887291dupCT	ENSP00000363283:p.Tyr429fs					RPS6KA1_ENST00000374166.4_Frame_Shift_Ins_p.F418fs|RPS6KA1_ENST00000526792.1_Frame_Shift_Ins_p.F337fs|RPS6KA1_ENST00000531382.1_Frame_Shift_Ins_p.F438fs|RPS6KA1_ENST00000374162.2_Frame_Shift_Ins_p.F337fs|RPS6KA1_ENST00000530003.1_Frame_Shift_Ins_p.F413fs	p.F429fs	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)	15	1440_1441	+		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	429			Protein kinase 2.		A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Frame_Shift_Ins	INS	ENST00000374168.2	37	c.1286_1287insCT	CCDS284.1																																																																																				0.559	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011431.1	NM_002953		19	81						19	81	---	---	---	---
COA7	65260	broad.mit.edu	37	1	53163987	53163990	+	Frame_Shift_Del	DEL	CATG	CATG	-	rs371629063		TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr1:53163987_53163990delCATG	ENST00000371538.3	-	1	48_51	c.9_12delCATG	c.(7-12)ggcatgfs	p.GM3fs	SELRC1_ENST00000486918.1_5'Flank	NM_023077.2	NP_075565.2														breast(1)|lung(3)|prostate(1)|urinary_tract(1)	6						GGAAGTCCACCATGCCGGCCATGG	0.672																																						ENST00000371538.3																			0				breast(1)|lung(3)|prostate(1)|urinary_tract(1)	6						c.(7-12)ggfs		Sel1 repeat containing 1																																				SO:0001589	frameshift_variant	65260						binding	g.chr1:53163987_53163990delCATG																												ENST00000371538.3:c.9_12delCATG	1.37:g.53163987_53163990delCATG	ENSP00000360593:p.Gly3fs						p.GM3fs	NM_023077.2	NP_075565.2	Q96BR5	SELR1_HUMAN			1	48_51	-			3						Frame_Shift_Del	DEL	ENST00000371538.3	37	c.9_12delCATG	CCDS570.1																																																																																				0.672	SELRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023462.1			27	82						27	82	---	---	---	---
FOSL2	2355	broad.mit.edu	37	2	28634913	28634922	+	Frame_Shift_Del	DEL	TAGCCCCGAG	TAGCCCCGAG	-	rs146012402|rs373180507	byFrequency	TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr2:28634913_28634922delTAGCCCCGAG	ENST00000264716.4	+	4	1442_1451	c.579_588delTAGCCCCGAG	c.(577-588)attagccccgagfs	p.ISPE193fs	FOSL2_ENST00000545753.1_Frame_Shift_Del_p.ISPE154fs|FOSL2_ENST00000379619.1_Frame_Shift_Del_p.ISPE185fs	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	193					cell death (GO:0008219)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					TGTGCAAGATTAGCCCCGAGGAGCGCCGAT	0.629																																						ENST00000264716.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(577-588)atfs		FOS-like antigen 2																																				SO:0001589	frameshift_variant	2355				cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:28634913_28634922delTAGCCCCGAG		CCDS1766.1	2p23.3	2013-01-10			ENSG00000075426	ENSG00000075426		"""basic leucine zipper proteins"""	3798	protein-coding gene	gene with protein product		601575					Standard	NM_005253		Approved	FRA2, FLJ23306	uc002rma.3	P15408	OTTHUMG00000097832	ENST00000264716.4:c.579_588delTAGCCCCGAG	2.37:g.28634913_28634922delTAGCCCCGAG	ENSP00000264716:p.Ile193fs					FOSL2_ENST00000379619.1_Frame_Shift_Del_p.ISPE185fs|FOSL2_ENST00000545753.1_Frame_Shift_Del_p.ISPE154fs	p.ISPE193fs	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN			4	1442_1451	+	Acute lymphoblastic leukemia(172;0.155)		193					B2RD58|B3KP27|B4DYV4|Q6FG46	Frame_Shift_Del	DEL	ENST00000264716.4	37	c.579_588delTAGCCCCGAG	CCDS1766.1																																																																																				0.629	FOSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215116.2	NM_005253		28	70						28	70	---	---	---	---
KLHL41	10324	broad.mit.edu	37	2	170366496	170366496	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr2:170366496delA	ENST00000284669.1	+	1	285	c.208delA	c.(208-210)aaafs	p.K72fs	BBS5_ENST00000554017.1_Intron|RP11-724O16.1_ENST00000513963.1_Intron	NM_006063.2	NP_006054.2	O60662	KLH41_HUMAN	kelch-like family member 41	72	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				myofibril assembly (GO:0030239)|protein ubiquitination (GO:0016567)|regulation of lateral pseudopodium assembly (GO:0031275)|regulation of myoblast differentiation (GO:0045661)|regulation of myoblast proliferation (GO:2000291)|regulation of skeletal muscle cell differentiation (GO:2001014)|skeletal muscle cell differentiation (GO:0035914)|striated muscle contraction (GO:0006941)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|M band (GO:0031430)|pseudopodium (GO:0031143)											TGATGAGGCGAAAAAAAAGGA	0.388																																						ENST00000284669.1																			0											c.(208-210)aafs		kelch-like family member 41							145.0	144.0	145.0					2																	170366496		2203	4300	6503	SO:0001589	frameshift_variant	10324							g.chr2:170366496delA	AF056929	CCDS2234.1	2q31.1	2013-02-22	2013-02-22	2013-01-08	ENSG00000239474	ENSG00000239474		"""Kelch-like"", ""BTB/POZ domain containing"""	16905	protein-coding gene	gene with protein product	"""sarcomeric muscle protein"""	607701	"""kelch repeat and BTB (POZ) domain containing 10"", ""kelch-like 41 (Drosophila)"""	KBTBD10		9655184	Standard	NM_006063		Approved	SARCOSIN, Krp1	uc002ueu.1	O60662	OTTHUMG00000132205	ENST00000284669.1:c.208delA	2.37:g.170366496delA	ENSP00000284669:p.Lys72fs					BBS5_ENST00000554017.1_Intron|RP11-724O16.1_ENST00000513963.1_Intron	p.K72fs	NM_006063.2	NP_006054.2					1	285	+								Q53R42	Frame_Shift_Del	DEL	ENST00000284669.1	37	c.208delA	CCDS2234.1																																																																																				0.388	KLHL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255263.1	NM_006063		7	184						7	184	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187629341	187629342	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr4:187629341_187629342insTA	ENST00000441802.2	-	2	1849_1850	c.1640_1641insTA	c.(1639-1641)tacfs	p.Y547fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	547	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTTCCCGGCGGTACGGCAAGCC	0.465										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(1639-1641)tcgfs		FAT atypical cadherin 1																																				SO:0001589	frameshift_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187629341_187629342insTA	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.1639_1640dupTA	4.37:g.187629342_187629343dupTA	ENSP00000406229:p.Tyr547fs	HNSCC(5;0.00058)					p.S547fs	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			2	1849_1850	-			547			Cadherin 4.			Frame_Shift_Ins	INS	ENST00000441802.2	37	c.1640_1641insTA	CCDS47177.1																																																																																				0.465	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		16	41						16	41	---	---	---	---
MSH3	4437	broad.mit.edu	37	5	79950742	79950750	+	In_Frame_Del	DEL	CCCCCAGCT	CCCCCAGCT	-	rs144629981|rs3045983|rs557874766|rs1047489	byFrequency	TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr5:79950742_79950750delCCCCCAGCT	ENST00000265081.6	+	1	276_284	c.196_204delCCCCCAGCT	c.(196-204)cccccagctdel	p.PPA66del	DHFR_ENST00000439211.2_5'UTR|DHFR_ENST00000504396.1_5'Flank|DHFR_ENST00000505337.1_5'Flank|DHFR_ENST00000511032.1_5'Flank|DHFR_ENST00000513048.1_5'Flank	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	66					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		gCCCCCAGCGCCCCCAGCTCCCGCCTTCC	0.732								Mismatch excision repair (MMR)						1174	0.234425	0.2874	0.2061	5008	,	,		7173	0.0565		0.2535	False		,,,				2504	0.3466				Melanoma(88;1010 1399 13793 26548 36275)	ENST00000265081.6																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(196-204)del	Mismatch excision repair (MMR)	mutS homolog 3			,	1105,2179		342,421,879					,	4.0	1.0		dbSNP_102	4	1941,4615		567,807,1904	no	coding,utr-5	DHFR,MSH3	NM_002439.3,NM_000791.3	,	909,1228,2783	A1A1,A1R,RR		29.6065,33.648,30.9553	,	,		3046,6794				SO:0001651	inframe_deletion	4437				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding	g.chr5:79950742_79950750delCCCCCAGCT	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.196_204delCCCCCAGCT	5.37:g.79950742_79950750delCCCCCAGCT	ENSP00000265081:p.Pro66_Ala68del					DHFR_ENST00000439211.2_5'UTR	p.PPA66del	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)	1	276_284	+		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)	66					A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	In_Frame_Del	DEL	ENST00000265081.6	37	c.196_204delCCCCCAGCT	CCDS34195.1																																																																																				0.732	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		6	10						6	10	---	---	---	---
MAP3K7	6885	broad.mit.edu	37	6	91296568	91296570	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr6:91296568_91296570delGAG	ENST00000369329.3	-	1	194_196	c.33_35delCTC	c.(31-36)tcctcg>tcg	p.11_12SS>S	MAP3K7_ENST00000369327.3_In_Frame_Del_p.11_12SS>S|MAP3K7_ENST00000369332.3_In_Frame_Del_p.11_12SS>S|MAP3K7_ENST00000369325.3_In_Frame_Del_p.11_12SS>S	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	11	Interaction with MAPK8IP1. {ECO:0000250}.|Poly-Ser.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		GGCCGAAGACGAGGAGGAGGAGG	0.655																																						ENST00000369329.3																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28						c.(31-36)tcg>tc		mitogen-activated protein kinase kinase kinase 7																																				SO:0001651	inframe_deletion	6885				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	g.chr6:91296568_91296570delGAG	AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.33_35delCTC	6.37:g.91296577_91296579delGAG	ENSP00000358335:p.Ser14del					MAP3K7_ENST00000369332.3_In_Frame_Del_p.SS13del|MAP3K7_ENST00000369325.3_In_Frame_Del_p.SS13del|MAP3K7_ENST00000369327.3_In_Frame_Del_p.SS13del	p.SS13del	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)	1	194_196	-		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)	13			Poly-Ser.		B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	In_Frame_Del	DEL	ENST00000369329.3	37	c.33_35delCTC	CCDS5028.1																																																																																				0.655	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041530.1	NM_145331		7	62						7	62	---	---	---	---
ROR2	4920	broad.mit.edu	37	9	94486026	94486028	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HD-A6I0-01A-11D-A31L-08	TCGA-HD-A6I0-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce76330-1001-4c43-a1dd-a4871481aacb	e278496d-a942-4968-8a6a-c4d471d6ec6b	g.chr9:94486026_94486028delTCC	ENST00000375708.3	-	9	2946_2948	c.2748_2750delGGA	c.(2746-2751)gaggaa>gaa	p.916_917EE>E	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	916					cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GACAGAGCCTTCCTCCTCCTCCT	0.645																																						ENST00000375708.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(2746-2751)gaa>ga		receptor tyrosine kinase-like orphan receptor 2																																				SO:0001651	inframe_deletion	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94486026_94486028delTCC	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.2748_2750delGGA	9.37:g.94486035_94486037delTCC	ENSP00000364860:p.Glu917del					ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR	p.EE916del	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN			9	2946_2948	-			916					Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	In_Frame_Del	DEL	ENST00000375708.3	37	c.2748_2750delGGA	CCDS6691.1																																																																																				0.645	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			7	187						7	187	---	---	---	---
