#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
SFRP2	6423	broad.mit.edu	37	4	154709579	154709579	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr4:154709579G>A	ENST00000274063.4	-	1	693	c.409C>T	c.(409-411)Ccc>Tcc	p.P137S		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	137	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				bone morphogenesis (GO:0060349)|brain development (GO:0007420)|cardiac left ventricle morphogenesis (GO:0003214)|cell-cell signaling (GO:0007267)|cellular response to extracellular stimulus (GO:0031668)|cellular response to X-ray (GO:0071481)|chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|convergent extension involved in axis elongation (GO:0060028)|digestive tract morphogenesis (GO:0048546)|embryonic digit morphogenesis (GO:0042733)|gonad development (GO:0008406)|hematopoietic stem cell proliferation (GO:0071425)|male gonad development (GO:0008584)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dermatome development (GO:0061185)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of gene expression (GO:0010629)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-anal tail morphogenesis (GO:0036342)|regulation of stem cell division (GO:2000035)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|sclerotome development (GO:0061056)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase activator activity (GO:0061133)|fibronectin binding (GO:0001968)|integrin binding (GO:0005178)|metalloenzyme activator activity (GO:0010577)|PDZ domain binding (GO:0030165)|receptor agonist activity (GO:0048018)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				AGCATGTCGGGCCAGGGGAAG	0.647																																						ENST00000274063.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16						c.(409-411)Ccc>Tcc		secreted frizzled-related protein 2							80.0	84.0	83.0					4																	154709579		2203	4300	6503	SO:0001583	missense	6423				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding	g.chr4:154709579G>A	AF017986	CCDS34082.1	4q31.3	2008-08-29			ENSG00000145423	ENSG00000145423		"""Secreted frizzled-related proteins"""	10777	protein-coding gene	gene with protein product		604157				9391078	Standard	NM_003013		Approved	SARP1, SDF-5, FRP-2	uc003inv.1	Q96HF1	OTTHUMG00000161559	ENST00000274063.4:c.409C>T	4.37:g.154709579G>A	ENSP00000274063:p.Pro137Ser						p.P137S	NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN			1	693	-	all_hematologic(180;0.093)	Renal(120;0.117)	137			FZ.		B3KQR2|O14778|Q9HAP5	Missense_Mutation	SNP	ENST00000274063.4	37	c.409C>T	CCDS34082.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.001398	0.93227	.	.	ENSG00000145423	ENST00000274063	T	0.73789	-0.78	5.09	4.22	0.49857	Frizzled domain (5);	0.049039	0.85682	D	0.000000	D	0.87740	0.6253	M	0.89414	3.03	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.90202	0.4258	10	0.87932	D	0	.	14.9443	0.71016	0.0:0.0:0.8557:0.1443	.	137	Q96HF1	SFRP2_HUMAN	S	137	ENSP00000274063:P137S	ENSP00000274063:P137S	P	-	1	0	SFRP2	154929029	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.696000	0.98695	1.226000	0.43582	0.585000	0.79938	CCC		0.647	SFRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365296.1			13	19	0	0	0	1	0	13	19				
FKBP14	55033	broad.mit.edu	37	7	30054372	30054372	+	Silent	SNP	T	T	C	rs577454244		TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr7:30054372T>C	ENST00000222803.5	-	4	790	c.615A>G	c.(613-615)acA>acG	p.T205T	AC007285.6_ENST00000419103.1_RNA|AC007285.6_ENST00000422239.1_RNA	NM_017946.3	NP_060416.1	Q9NWM8	FKB14_HUMAN	FK506 binding protein 14, 22 kDa	205	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|large_intestine(2)|lung(2)	5						CGTGTTTATATGTAAATTCTC	0.338																																						ENST00000222803.5																			0				breast(1)|large_intestine(2)|lung(2)	5						c.(613-615)acA>acG		FK506 binding protein 14, 22 kDa							99.0	94.0	96.0					7																	30054372		2202	4297	6499	SO:0001819	synonymous_variant	55033				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:30054372T>C	AK000738	CCDS5423.1	7p15	2014-09-17	2002-08-29		ENSG00000106080	ENSG00000106080		"""EF-hand domain containing"""	18625	protein-coding gene	gene with protein product		614505	"""FK506 binding protein 14 (22 kDa)"""			12036304	Standard	NM_017946		Approved	FLJ20731, FKBP22	uc003tal.2	Q9NWM8	OTTHUMG00000023442	ENST00000222803.5:c.615A>G	7.37:g.30054372T>C						AC007285.6_ENST00000419103.1_RNA|AC007285.6_ENST00000422239.1_RNA	p.T205T	NM_017946.3	NP_060416.1	Q9NWM8	FKB14_HUMAN			4	790	-			205			EF-hand 2.			Silent	SNP	ENST00000222803.5	37	c.615A>G	CCDS5423.1																																																																																				0.338	FKBP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214229.1	NM_017946		11	19	0	0	0	1	0	11	19				
IGSF10	285313	broad.mit.edu	37	3	151166465	151166465	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr3:151166465G>T	ENST00000282466.3	-	4	1303	c.1304C>A	c.(1303-1305)tCc>tAc	p.S435Y		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	435					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAGCTGCAAGGAAATTTGGTC	0.438																																						ENST00000282466.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(1303-1305)tCc>tAc		immunoglobulin superfamily, member 10							128.0	116.0	120.0					3																	151166465		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151166465G>T	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.1304C>A	3.37:g.151166465G>T	ENSP00000282466:p.Ser435Tyr						p.S435Y	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	1303	-			435					Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.1304C>A	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.864961	0.00547	.	.	ENSG00000152580	ENST00000282466	T	0.70631	-0.5	5.08	1.22	0.21188	.	0.727222	0.11878	N	0.520756	T	0.59998	0.2235	M	0.62723	1.935	0.09310	N	1	P	0.41947	0.766	B	0.37304	0.246	T	0.48222	-0.9054	10	0.08381	T	0.77	.	8.823	0.35039	0.4506:0.0:0.5494:0.0	.	435	Q6WRI0	IGS10_HUMAN	Y	435	ENSP00000282466:S435Y	ENSP00000282466:S435Y	S	-	2	0	IGSF10	152649155	0.001000	0.12720	0.029000	0.17559	0.761000	0.43186	1.038000	0.30254	0.174000	0.19809	-0.300000	0.09419	TCC		0.438	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		9	38	1	0	0.0477658	1	0.0477658	9	38				
EP400	57634	broad.mit.edu	37	12	132530428	132530428	+	Missense_Mutation	SNP	C	C	A	rs547123451		TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr12:132530428C>A	ENST00000333577.4	+	40	7400	c.7291C>A	c.(7291-7293)Cca>Aca	p.P2431T	EP400_ENST00000330386.6_Missense_Mutation_p.P2314T|EP400_ENST00000389561.2_Missense_Mutation_p.P2395T|EP400_ENST00000332482.4_Missense_Mutation_p.P2358T|EP400_ENST00000389562.2_Missense_Mutation_p.P2394T			Q96L91	EP400_HUMAN	E1A binding protein p400	2431					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TGTCATCATTCCACGAGAGGA	0.542																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(7291-7293)Cca>Aca		E1A binding protein p400							127.0	101.0	110.0					12																	132530428		2203	4300	6503	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132530428C>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.7291C>A	12.37:g.132530428C>A	ENSP00000333602:p.Pro2431Thr					EP400_ENST00000330386.6_Missense_Mutation_p.P2314T|EP400_ENST00000332482.4_Missense_Mutation_p.P2358T|EP400_ENST00000389561.2_Missense_Mutation_p.P2395T|EP400_ENST00000389562.2_Missense_Mutation_p.P2394T	p.P2431T			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	40	7400	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2431					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.7291C>A		.	.	.	.	.	.	.	.	.	.	C	11.78	1.741000	0.30865	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8	5.21	5.21	0.72293	.	0.051889	0.85682	D	0.000000	T	0.74152	0.3679	M	0.87180	2.865	0.51767	D	0.999938	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.78866	-0.2035	10	0.62326	D	0.03	.	18.7731	0.91900	0.0:1.0:0.0:0.0	.	2395;2314;2394	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	T	2431;2395;2394;2358;2314;2395	ENSP00000333602:P2431T;ENSP00000374212:P2395T;ENSP00000374213:P2394T;ENSP00000331737:P2358T;ENSP00000330620:P2314T	ENSP00000330620:P2314T	P	+	1	0	EP400	131096381	1.000000	0.71417	0.889000	0.34880	0.276000	0.26787	7.487000	0.81328	2.439000	0.82584	0.655000	0.94253	CCA		0.542	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		4	15	1	0	2.56e-06	1	2.89574e-06	4	15				
DUOX1	53905	broad.mit.edu	37	15	45457064	45457064	+	Missense_Mutation	SNP	C	C	T	rs554036237		TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr15:45457064C>T	ENST00000321429.4	+	35	5028	c.4621C>T	c.(4621-4623)Cgg>Tgg	p.R1541W	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Missense_Mutation_p.R1541W|DUOX1_ENST00000561166.1_Missense_Mutation_p.R1187W	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1541					cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CAGGCAGGACCGGACTCACTT	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		17772	0.001		0.0	False		,,,				2504	0.0					ENST00000321429.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57						c.(4621-4623)Cgg>Tgg		dual oxidase 1							161.0	158.0	159.0					15																	45457064		2198	4298	6496	SO:0001583	missense	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45457064C>T	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.4621C>T	15.37:g.45457064C>T	ENSP00000317997:p.Arg1541Trp					DUOX1_ENST00000561166.1_Missense_Mutation_p.R1187W|DUOX1_ENST00000389037.3_Missense_Mutation_p.R1541W|CTD-2651B20.1_ENST00000558039.1_lincRNA	p.R1541W	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	35	5028	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1541					A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	c.4621C>T	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045090	0.75846	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.86366	-2.11;-2.11	4.64	0.183	0.15082	.	0.167615	0.53938	D	0.000053	T	0.81936	0.4928	L	0.38175	1.15	0.37386	D	0.912267	D	0.69078	0.997	P	0.48677	0.586	T	0.80910	-0.1171	10	0.72032	D	0.01	-15.1645	8.1323	0.31035	0.2938:0.437:0.2692:0.0	.	1541	Q9NRD9	DUOX1_HUMAN	W	1541	ENSP00000317997:R1541W;ENSP00000373689:R1541W	ENSP00000317997:R1541W	R	+	1	2	DUOX1	43244356	0.989000	0.36119	0.998000	0.56505	0.996000	0.88848	1.531000	0.36018	0.162000	0.19483	0.561000	0.74099	CGG		0.587	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		36	60	0	0	0	1	0	36	60				
SLC9A7P1	121456	broad.mit.edu	37	12	98848707	98848707	+	RNA	SNP	C	C	T			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr12:98848707C>T	ENST00000554295.1	-	0	2216					NR_033801.1				solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7 pseudogene 1																		TCGAAACCTTCTGGTTTCCCA	0.562																																						ENST00000554295.1																			0																																																			0							g.chr12:98848707C>T			12q23.1	2013-05-22	2012-03-22		ENSG00000227825	ENSG00000227825		"""Solute carriers"""	32679	pseudogene	pseudogene			"""solute carrier family 9 (sodium/hydrogen exchanger), member 7 pseudogene 1"""				Standard	NR_033801		Approved		uc009ztm.2		OTTHUMG00000170629		12.37:g.98848707C>T								NR_033801.1						0	2216	-									RNA	SNP	ENST00000554295.1	37																																																																																						0.562	SLC9A7P1-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000409869.1			3	5	0	0	0	1	0	3	5				
RUNX3	864	broad.mit.edu	37	1	25254068	25254068	+	Silent	SNP	G	G	T			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr1:25254068G>T	ENST00000308873.6	-	2	444	c.436C>A	c.(436-438)Cga>Aga	p.R146R	RUNX3_ENST00000540420.1_Silent_p.R53R|RUNX3_ENST00000496967.1_5'UTR|RUNX3_ENST00000399916.1_Silent_p.R160R|RUNX3_ENST00000338888.3_Silent_p.R160R	NM_004350.2	NP_004341.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	146	Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				axon guidance (GO:0007411)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|hair follicle morphogenesis (GO:0031069)|interferon-gamma production (GO:0032609)|negative regulation of cell cycle (GO:0045786)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peripheral nervous system neuron development (GO:0048935)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		CACTTACCTCGCCCACTGCGG	0.587																																						ENST00000399916.1																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						c.(478-480)Cga>Aga		runt-related transcription factor 3							81.0	70.0	74.0					1																	25254068		2203	4300	6503	SO:0001819	synonymous_variant	864				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:25254068G>T	BC013362	CCDS257.1, CCDS30633.1	1p36	2008-02-05			ENSG00000020633	ENSG00000020633			10473	protein-coding gene	gene with protein product		600210		CBFA3		7835892	Standard	NM_001031680		Approved	AML2, PEBP2A3	uc001bjq.3	Q13761	OTTHUMG00000003316	ENST00000308873.6:c.436C>A	1.37:g.25254068G>T						RUNX3_ENST00000308873.6_Silent_p.R146R|RUNX3_ENST00000496967.1_5'UTR|RUNX3_ENST00000540420.1_Silent_p.R53R|RUNX3_ENST00000338888.3_Silent_p.R160R	p.R160R	NM_001031680.2	NP_001026850.1	Q13761	RUNX3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)	3	916	-		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	146			Runt.		B1AJV5|Q12969|Q13760	Silent	SNP	ENST00000308873.6	37	c.478C>A	CCDS257.1																																																																																				0.587	RUNX3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009284.1	NM_004350		24	41	1	0	1.66031e-10	1	1.94171e-10	24	41				
CPN1	1369	broad.mit.edu	37	10	101835691	101835691	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr10:101835691C>T	ENST00000370418.3	-	2	648	c.397G>A	c.(397-399)Ggc>Agc	p.G133S		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	133	Catalytic.				response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		ACCTCGTAGCCGTCGGGGTTC	0.577																																						ENST00000370418.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33						c.(397-399)Ggc>Agc		carboxypeptidase N, polypeptide 1							94.0	83.0	87.0					10																	101835691		2203	4300	6503	SO:0001583	missense	1369				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:101835691C>T	X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"""anaphylatoxin inactivator"", ""arginine carboxypeptidase"", ""carboxypeptidase K"", ""kininase I"", ""lysine carboxypeptidase"""	603103	"""carboxypeptidase N, polypeptide 1, 50kD"""			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.397G>A	10.37:g.101835691C>T	ENSP00000359446:p.Gly133Ser						p.G133S	NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)	2	648	-		Colorectal(252;0.234)	133			Catalytic.		B1AP59	Missense_Mutation	SNP	ENST00000370418.3	37	c.397G>A	CCDS7486.1	.	.	.	.	.	.	.	.	.	.	C	35	5.462668	0.96240	.	.	ENSG00000120054	ENST00000370418	T	0.58210	0.35	5.74	5.74	0.90152	Peptidase M14, carboxypeptidase A (2);	0.046359	0.85682	D	0.000000	T	0.81702	0.4878	H	0.94345	3.525	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86168	0.1598	10	0.87932	D	0	-17.1198	19.9353	0.97137	0.0:1.0:0.0:0.0	.	133	P15169	CBPN_HUMAN	S	133	ENSP00000359446:G133S	ENSP00000359446:G133S	G	-	1	0	CPN1	101825681	1.000000	0.71417	0.998000	0.56505	0.626000	0.37791	7.815000	0.86186	2.724000	0.93272	0.655000	0.94253	GGC		0.577	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049828.1	NM_001308		6	21	0	0	0	1	0	6	21				
LDLR	3949	broad.mit.edu	37	19	11240197	11240197	+	Missense_Mutation	SNP	G	G	A	rs200243555		TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr19:11240197G>A	ENST00000558518.1	+	17	2585	c.2398G>A	c.(2398-2400)Gtc>Atc	p.V800I	LDLR_ENST00000545707.1_Missense_Mutation_p.V622I|LDLR_ENST00000560628.1_Intron|LDLR_ENST00000558013.1_Missense_Mutation_p.V800I|LDLR_ENST00000535915.1_Missense_Mutation_p.V759I|LDLR_ENST00000557933.1_Silent_p.S820S|LDLR_ENST00000455727.2_Missense_Mutation_p.V632I	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	800			Missing (in FH; Danish patient). {ECO:0000269|PubMed:9143924}.		cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	AGTGCTCCTCGTCTTCCTTTG	0.547																																					GBM(18;201 575 7820 21545)	ENST00000558518.1																			0				breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2398-2400)Gtc>Atc		low density lipoprotein receptor	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)						123.0	104.0	110.0					19																	11240197		2203	4300	6503	SO:0001583	missense	3949				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	g.chr19:11240197G>A	AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"""Low density lipoprotein receptors"""	6547	protein-coding gene	gene with protein product	"""familial hypercholesterolemia"""	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.2398G>A	19.37:g.11240197G>A	ENSP00000454071:p.Val800Ile					LDLR_ENST00000545707.1_Missense_Mutation_p.V622I|LDLR_ENST00000560628.1_Intron|LDLR_ENST00000558013.1_Missense_Mutation_p.V800I|LDLR_ENST00000557933.1_Silent_p.S820S|LDLR_ENST00000535915.1_Missense_Mutation_p.V759I|LDLR_ENST00000455727.2_Missense_Mutation_p.V632I	p.V800I	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	17	2585	+		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)	800		Missing (in FH; Danish patient).			B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Missense_Mutation	SNP	ENST00000558518.1	37	c.2398G>A	CCDS12254.1	.	.	.	.	.	.	.	.	.	.	G	10.44	1.349498	0.24426	.	.	ENSG00000130164	ENST00000252444;ENST00000545707;ENST00000535915;ENST00000455727	D;D;D	0.90133	-2.62;-2.58;-2.62	4.79	-2.14	0.07123	Growth factor, receptor (1);	1.760750	0.03721	N	0.251851	T	0.81044	0.4741	N	0.20881	0.62	0.09310	N	1	B;B;B;B;B;B	0.12630	0.003;0.006;0.003;0.003;0.003;0.003	B;B;B;B;B;B	0.08055	0.003;0.003;0.002;0.002;0.002;0.002	T	0.64765	-0.6330	10	0.30854	T	0.27	.	2.3228	0.04215	0.3395:0.1269:0.4059:0.1277	.	632;622;679;759;812;800	B4DR00;B4DJZ8;B4DII3;B4DTQ3;Q59FQ1;P01130	.;.;.;.;.;LDLR_HUMAN	I	800;622;759;632	ENSP00000437639:V622I;ENSP00000440520:V759I;ENSP00000397829:V632I	ENSP00000252444:V800I	V	+	1	0	LDLR	11101197	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.639000	0.02011	-0.130000	0.11599	0.650000	0.86243	GTC		0.547	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415973.2			4	51	0	0	0	1	0	4	51				
SARDH	1757	broad.mit.edu	37	9	136594988	136594988	+	Splice_Site	SNP	C	C	T			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr9:136594988C>T	ENST00000371872.4	-	6	1072		c.e6-1		SARDH_ENST00000422262.2_Splice_Site|SARDH_ENST00000298628.5_Splice_Site|SARDH_ENST00000439388.1_Splice_Site|SARDH_ENST00000371867.1_Splice_Site	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase						glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GCCCACACTCCTGCGGGCAGA	0.637																																						ENST00000371872.4																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44						c.e6-1		sarcosine dehydrogenase							64.0	53.0	57.0					9																	136594988		2203	4300	6503	SO:0001630	splice_region_variant	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136594988C>T		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.815-1G>A	9.37:g.136594988C>T						SARDH_ENST00000298628.5_Splice_Site|SARDH_ENST00000371867.1_Splice_Site|SARDH_ENST00000422262.2_Splice_Site|SARDH_ENST00000439388.1_Splice_Site		NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	6	1072	-								B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Splice_Site	SNP	ENST00000371872.4	37		CCDS6978.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.427435	0.83667	.	.	ENSG00000123453	ENST00000371872;ENST00000439388;ENST00000422262;ENST00000427237;ENST00000539227;ENST00000535281;ENST00000371867;ENST00000393050;ENST00000298628	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2711	0.90069	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SARDH	135584809	1.000000	0.71417	0.901000	0.35422	0.978000	0.69477	5.432000	0.66514	2.307000	0.77673	0.313000	0.20887	.		0.637	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1		Intron	4	20	0	0	0	1	0	4	20				
CANT1	124583	broad.mit.edu	37	17	76993313	76993313	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr17:76993313T>C	ENST00000302345.2	-	2	886	c.392A>G	c.(391-393)aAg>aGg	p.K131R	CANT1_ENST00000591732.1_5'Flank|CANT1_ENST00000591773.1_Missense_Mutation_p.K131R|CANT1_ENST00000392446.5_Missense_Mutation_p.K131R	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	131					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|proteoglycan biosynthetic process (GO:0030166)|signal transduction (GO:0007165)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|signal transducer activity (GO:0004871)|uridine-diphosphatase activity (GO:0045134)		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CAGGTAGCCCTTTTTCAGGTA	0.577			T	ETV4	prostate																																	ENST00000302345.2				Dom	yes		17	17q25	124583	T	calcium activated nucleotidase 1			E	ETV4		prostate	CANT1/ETV4(3)	0				cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16						c.(391-393)aAg>aGg		calcium activated nucleotidase 1							184.0	181.0	182.0					17																	76993313		2203	4300	6503	SO:0001583	missense	124583				positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity	g.chr17:76993313T>C	AJ312208	CCDS11760.1	17q25.3	2008-02-05	2004-10-12	2004-10-15		ENSG00000171302			19721	protein-coding gene	gene with protein product	"""Soluble Ca-Activated Nucleotidase, isozyme 1"""	613165				12167635	Standard	NM_138793		Approved	SHAPY, SCAN-1	uc002jwk.3	Q8WVQ1		ENST00000302345.2:c.392A>G	17.37:g.76993313T>C	ENSP00000307674:p.Lys131Arg					CANT1_ENST00000591773.1_Missense_Mutation_p.K131R|CANT1_ENST00000392446.5_Missense_Mutation_p.K131R	p.K131R	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)		2	886	-			131					B4DJ54|Q7Z2J7|Q8NG05|Q8NHP0|Q9BSD5	Missense_Mutation	SNP	ENST00000302345.2	37	c.392A>G	CCDS11760.1	.	.	.	.	.	.	.	.	.	.	T	10.97	1.501139	0.26861	.	.	ENSG00000171302	ENST00000302345;ENST00000392446;ENST00000537282;ENST00000339300	D;D	0.85773	-2.03;-2.03	5.27	4.19	0.49359	.	0.099573	0.64402	D	0.000002	T	0.71065	0.3296	N	0.20357	0.565	0.50632	D	0.999887	B	0.06786	0.001	B	0.10450	0.005	T	0.59440	-0.7454	10	0.13108	T	0.6	-30.8089	8.2417	0.31665	0.0:0.1541:0.0:0.8459	.	131	Q8WVQ1	CANT1_HUMAN	R	131;131;131;80	ENSP00000307674:K131R;ENSP00000376241:K131R	ENSP00000307674:K131R	K	-	2	0	CANT1	74504908	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.832000	0.39151	0.845000	0.35118	0.459000	0.35465	AAG		0.577	CANT1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437723.2	NM_138793		5	258	0	0	0	1	0	5	258				
MUC2	4583	broad.mit.edu	37	11	1086413	1086413	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr11:1086413C>T	ENST00000441003.2	+	23	3149	c.3122C>T	c.(3121-3123)cCg>cTg	p.P1041L	MUC2_ENST00000359061.5_Missense_Mutation_p.P1041L	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1041	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	AGCCTGAACCCGCACCGCCGC	0.657																																						ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(3121-3123)cCg>cTg		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						20.0	29.0	26.0					11																	1086413		2078	4195	6273	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1086413C>T	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.3122C>T	11.37:g.1086413C>T	ENSP00000415183:p.Pro1041Leu					MUC2_ENST00000359061.5_Missense_Mutation_p.P1041L	p.P1041L	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	23	3149	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	1041			VWFD 3.		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.3122C>T		.	.	.	.	.	.	.	.	.	.	c	14.56	2.573275	0.45902	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.15834	2.5;2.39	3.56	2.62	0.31277	.	0.198350	0.32218	U	0.006403	T	0.26122	0.0637	L	0.46157	1.445	0.40519	D	0.980816	D	0.60575	0.988	P	0.55303	0.773	T	0.02958	-1.1089	10	0.48119	T	0.1	.	13.1569	0.59522	0.0:0.8379:0.1621:0.0	.	1041	E7EUV1	.	L	1041	ENSP00000415183:P1041L;ENSP00000351956:P1041L	ENSP00000351956:P1041L	P	+	2	0	MUC2	1076413	0.540000	0.26410	0.020000	0.16555	0.994000	0.84299	2.440000	0.44855	0.812000	0.34326	0.479000	0.44913	CCG		0.657	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		4	7	0	0	0	1	0	4	7				
ERBB4	2066	broad.mit.edu	37	2	212295693	212295693	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr2:212295693C>T	ENST00000342788.4	-	21	2930	c.2620G>A	c.(2620-2622)Gag>Aag	p.E874K	ERBB4_ENST00000436443.1_Missense_Mutation_p.E874K|ERBB4_ENST00000402597.1_Missense_Mutation_p.E864K	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	874	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	GCATTGTACTCTTTTTCATCT	0.373										TSP Lung(8;0.080)																												ENST00000342788.4																			0				NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179						c.(2620-2622)Gag>Aag		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4							147.0	139.0	142.0					2																	212295693		2203	4300	6503	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212295693C>T	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.2620G>A	2.37:g.212295693C>T	ENSP00000342235:p.Glu874Lys	TSP Lung(8;0.080)				ERBB4_ENST00000436443.1_Missense_Mutation_p.E874K|ERBB4_ENST00000402597.1_Missense_Mutation_p.E864K	p.E874K	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	21	2930	-		Renal(323;0.06)|Lung NSC(271;0.197)	874			Protein kinase.		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.2620G>A	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.439090	0.63067	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	D;D;D	0.82433	-1.61;-1.61;-1.61	5.19	5.19	0.71726	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.86920	0.6049	L	0.31526	0.94	0.80722	D	1	D;P;D;D	0.76494	0.999;0.898;0.999;0.999	D;B;D;D	0.81914	0.992;0.371;0.992;0.995	D	0.88009	0.2761	10	0.59425	D	0.04	.	19.0631	0.93100	0.0:1.0:0.0:0.0	.	864;864;874;874	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	K	874;874;864	ENSP00000342235:E874K;ENSP00000403204:E874K;ENSP00000385565:E864K	ENSP00000342235:E874K	E	-	1	0	ERBB4	212003938	1.000000	0.71417	1.000000	0.80357	0.028000	0.11728	7.747000	0.85070	2.565000	0.86533	0.563000	0.77884	GAG		0.373	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		35	59	0	0	0	1	0	35	59				
TADA2B	93624	broad.mit.edu	37	4	7056396	7056396	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr4:7056396G>A	ENST00000310074.7	+	2	1067	c.878G>A	c.(877-879)cGg>cAg	p.R293Q	TADA2B_ENST00000515646.1_Missense_Mutation_p.R201Q|TADA2B_ENST00000512388.1_Missense_Mutation_p.R218Q	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	293					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	SAGA-type complex (GO:0070461)|STAGA complex (GO:0030914)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						GAACTGCAGCGGTACCGGCGA	0.522																																						ENST00000310074.7																			0				breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						c.(877-879)cGg>cAg		transcriptional adaptor 2B							43.0	50.0	48.0					4																	7056396		1997	4161	6158	SO:0001583	missense	93624				regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding	g.chr4:7056396G>A	AK026299	CCDS47007.1	4p16.1	2009-10-02			ENSG00000173011	ENSG00000173011			30781	protein-coding gene	gene with protein product		608790				12972612, 18936164	Standard	NM_152293		Approved	MGC21874	uc003gjw.4	Q86TJ2	OTTHUMG00000159983	ENST00000310074.7:c.878G>A	4.37:g.7056396G>A	ENSP00000308022:p.Arg293Gln					TADA2B_ENST00000512388.1_Missense_Mutation_p.R218Q|TADA2B_ENST00000515646.1_Missense_Mutation_p.R201Q	p.R293Q	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN			2	1067	+			293					A0AUJ8|A4QMR7|B3KSN0|B3KU86|Q6MZG9	Missense_Mutation	SNP	ENST00000310074.7	37	c.878G>A	CCDS47007.1	.	.	.	.	.	.	.	.	.	.	G	35	5.425042	0.96131	.	.	ENSG00000173011	ENST00000310074;ENST00000512388;ENST00000515646	T;T;T	0.39056	1.1;1.1;1.1	4.96	4.96	0.65561	.	.	.	.	.	T	0.62417	0.2426	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.65443	0.935;0.866	T	0.63945	-0.6522	9	0.48119	T	0.1	-37.0971	18.2471	0.89989	0.0:0.0:1.0:0.0	.	218;293	Q86TJ2-2;Q86TJ2	.;TAD2B_HUMAN	Q	293;218;201	ENSP00000308022:R293Q;ENSP00000423947:R218Q;ENSP00000423181:R201Q	ENSP00000308022:R293Q	R	+	2	0	TADA2B	7107297	1.000000	0.71417	0.950000	0.38849	0.982000	0.71751	8.715000	0.91416	2.307000	0.77673	0.561000	0.74099	CGG		0.522	TADA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358687.2	NM_152293		6	14	0	0	0	1	0	6	14				
PCDHA4	56144	broad.mit.edu	37	5	140188233	140188233	+	Silent	SNP	C	C	T	rs139246893		TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr5:140188233C>T	ENST00000530339.1	+	1	1461	c.1461C>T	c.(1459-1461)aaC>aaT	p.N487N	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.N487N|PCDHA4_ENST00000356878.4_Silent_p.N487N|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	487	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.N487N(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAGGAGAACGCGCTGGTGT	0.657																																						ENST00000530339.1																			2	Substitution - coding silent(2)	p.N487N(2)	lung(2)	breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78						c.(1459-1461)aaC>aaT				C	,,,,,	1,4405	2.1+/-5.4	0,1,2202	62.0	65.0	64.0		,,,1461,,1461	3.3	1.0	5	dbSNP_134	64	0,8600		0,0,4300	no	intron,intron,intron,coding-synonymous,intron,coding-synonymous	PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_031411.1,NM_031500.1	,,,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,,,	,,,487/948,,487/799	140188233	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140188233C>T	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1461C>T	5.37:g.140188233C>T						PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.N487N|PCDHA4_ENST00000356878.4_Silent_p.N487N|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	p.N487N	NM_018907.2	NP_061730.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1461	+								O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	c.1461C>T	CCDS54916.1																																																																																				0.657	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		8	55	0	0	0	1	0	8	55				
SHANK1	50944	broad.mit.edu	37	19	51165488	51165488	+	Missense_Mutation	SNP	G	G	A	rs549670535	byFrequency	TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr19:51165488G>A	ENST00000293441.1	-	23	6238	c.6220C>T	c.(6220-6222)Cgc>Tgc	p.R2074C	SHANK1_ENST00000483981.2_5'Flank|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391814.1_Missense_Mutation_p.R2082C|SHANK1_ENST00000359082.3_Missense_Mutation_p.R2065C|SHANK1_ENST00000391813.1_Missense_Mutation_p.R1461C	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	2074					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GAGAGGGAGCGCGAGGCCCCT	0.682													g|||	2	0.000399361	0.0	0.0	5008	,	,		12620	0.002		0.0	False		,,,				2504	0.0					ENST00000293441.1																			0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(6220-6222)Cgc>Tgc		SH3 and multiple ankyrin repeat domains 1							28.0	30.0	29.0					19																	51165488		2203	4299	6502	SO:0001583	missense	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51165488G>A	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.6220C>T	19.37:g.51165488G>A	ENSP00000293441:p.Arg2074Cys					SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391814.1_Missense_Mutation_p.R2082C|SHANK1_ENST00000391813.1_Missense_Mutation_p.R1461C|SHANK1_ENST00000359082.3_Missense_Mutation_p.R2065C	p.R2074C	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	23	6238	-		all_neural(266;0.057)	2074					A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.6220C>T	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	g	11.74	1.727370	0.30593	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.54675	0.66;1.01;0.69;0.56	3.55	3.55	0.40652	.	0.683935	0.11773	U	0.530937	T	0.65626	0.2709	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.67548	0.897;0.952	T	0.66709	-0.5855	10	0.72032	D	0.01	.	14.4496	0.67376	0.0:0.0:1.0:0.0	.	2074;1461	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	C	2074;1461;2065;2082	ENSP00000293441:R2074C;ENSP00000375689:R1461C;ENSP00000351984:R2065C;ENSP00000375690:R2082C	ENSP00000293441:R2074C	R	-	1	0	SHANK1	55857300	1.000000	0.71417	0.987000	0.45799	0.787000	0.44495	4.238000	0.58688	2.010000	0.58986	0.450000	0.29827	CGC		0.682	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		7	16	0	0	0	1	0	7	16				
INSRR	3645	broad.mit.edu	37	1	156811518	156811518	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr1:156811518C>T	ENST00000368195.3	-	20	3862	c.3466G>A	c.(3466-3468)Gtg>Atg	p.V1156M	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	1156	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ATCCAGCGCACGGGCAGCAGC	0.617																																						ENST00000368195.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(3466-3468)Gtg>Atg		insulin receptor-related receptor							80.0	76.0	78.0					1																	156811518		2203	4300	6503	SO:0001583	missense	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156811518C>T	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.3466G>A	1.37:g.156811518C>T	ENSP00000357178:p.Val1156Met					NTRK1_ENST00000392302.2_Intron	p.V1156M	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN			20	3862	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		1156			Protein kinase.		O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	c.3466G>A	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.548496	0.86127	.	.	ENSG00000027644	ENST00000368195	D	0.84589	-1.87	4.99	4.99	0.66335	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.41823	D	0.000816	D	0.91653	0.7362	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92479	0.5991	9	0.87932	D	0	.	16.9908	0.86353	0.0:1.0:0.0:0.0	.	1156	P14616	INSRR_HUMAN	M	1156	ENSP00000357178:V1156M	ENSP00000357178:V1156M	V	-	1	0	INSRR	155078142	1.000000	0.71417	0.961000	0.40146	0.995000	0.86356	7.590000	0.82653	2.597000	0.87782	0.561000	0.74099	GTG		0.617	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		16	32	0	0	0	1	0	16	32				
TOR2A	27433	broad.mit.edu	37	9	130494342	130494342	+	Missense_Mutation	SNP	C	C	T	rs559979121		TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr9:130494342C>T	ENST00000373284.5	-	5	983	c.937G>A	c.(937-939)Gtg>Atg	p.V313M	TOR2A_ENST00000336067.6_3'UTR|TOR2A_ENST00000458505.3_3'UTR|TOR2A_ENST00000472723.1_5'UTR|TOR2A_ENST00000373281.5_3'UTR	NM_001085347.2	NP_001078816	Q5JU69	TOR2A_HUMAN	torsin family 2, member A	313					chaperone mediated protein folding requiring cofactor (GO:0051085)|protein homooligomerization (GO:0051260)	endoplasmic reticulum lumen (GO:0005788)	ATP binding (GO:0005524)			NS(1)|endometrium(2)	3						CGGGAGGCCACGGTCTTGCAG	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		19161	0.0		0.0	False		,,,				2504	0.001					ENST00000373284.5																			0				NS(1)|endometrium(2)	3						c.(937-939)Gtg>Atg		torsin family 2, member A							89.0	100.0	97.0					9																	130494342		2046	4190	6236	SO:0001583	missense	27433				chaperone mediated protein folding requiring cofactor	endoplasmic reticulum|extracellular region	ATP binding|nucleoside-triphosphatase activity	g.chr9:130494342C>T	AA873275	CCDS6876.1, CCDS43879.1, CCDS48024.1	9q34.11	2010-08-20			ENSG00000160404	ENSG00000160404			11996	protein-coding gene	gene with protein product		608052				10644435	Standard	NM_001085347		Approved	FLJ14771, TORP1	uc004brs.4	Q5JU69	OTTHUMG00000020706	ENST00000373284.5:c.937G>A	9.37:g.130494342C>T	ENSP00000362381:p.Val313Met					TOR2A_ENST00000373281.5_3'UTR|TOR2A_ENST00000472723.1_5'UTR|TOR2A_ENST00000458505.3_3'UTR|TOR2A_ENST00000336067.6_3'UTR	p.V313M	NM_001085347.2	NP_001078816.1	Q5JU69	TOR2A_HUMAN			5	983	-			313					A4FU12|A4FU13|Q3ZCN9|Q3ZCP0|Q5JU68|Q66K87|Q6UXW6|Q8NAN5|Q96SL7	Missense_Mutation	SNP	ENST00000373284.5	37	c.937G>A	CCDS43879.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.410889	0.83340	.	.	ENSG00000160404	ENST00000373284	T	0.69806	-0.43	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.84741	0.5539	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87162	0.2215	10	0.87932	D	0	-32.145	18.3949	0.90495	0.0:1.0:0.0:0.0	.	313	Q5JU69	TOR2A_HUMAN	M	313	ENSP00000362381:V313M	ENSP00000362381:V313M	V	-	1	0	TOR2A	129534163	1.000000	0.71417	0.956000	0.39512	0.607000	0.37147	4.635000	0.61332	2.585000	0.87301	0.462000	0.41574	GTG		0.627	TOR2A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054205.1	NM_130459		43	40	0	0	0	1	0	43	40				
LCT	3938	broad.mit.edu	37	2	136567459	136567459	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr2:136567459C>T	ENST00000264162.2	-	8	2468	c.2458G>A	c.(2458-2460)Gtc>Atc	p.V820I	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	820	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	CTGAAGTTGACGTGGTGCAGG	0.507																																						ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(2458-2460)Gtc>Atc		lactase							113.0	112.0	112.0					2																	136567459		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136567459C>T	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.2458G>A	2.37:g.136567459C>T	ENSP00000264162:p.Val820Ile						p.V820I	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	8	2468	-			820			4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.2458G>A	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.810152	0.70797	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.47869	0.83	6.03	5.16	0.70880	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.061993	0.64402	D	0.000004	T	0.69369	0.3103	M	0.76938	2.355	0.50313	D	0.999862	D	0.89917	1.0	D	0.77004	0.989	T	0.73736	-0.3889	10	0.62326	D	0.03	-32.2178	15.393	0.74760	0.0:0.9336:0.0:0.0664	.	820	P09848	LPH_HUMAN	I	820;252	ENSP00000264162:V820I	ENSP00000264162:V820I	V	-	1	0	LCT	136283929	0.999000	0.42202	0.912000	0.35992	0.465000	0.32709	4.110000	0.57831	1.573000	0.49748	0.557000	0.71058	GTC		0.507	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		5	72	0	0	0	1	0	5	72				
NTF3	4908	broad.mit.edu	37	12	5603787	5603787	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr12:5603787G>A	ENST00000331010.6	+	1	490	c.407G>A	c.(406-408)cGg>cAg	p.R136Q	NTF3_ENST00000535299.1_Intron|NTF3_ENST00000423158.3_Missense_Mutation_p.R149Q	NM_002527.4	NP_002518.1	P20783	NTF3_HUMAN	neurotrophin 3	136					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell-cell signaling (GO:0007267)|enteric nervous system development (GO:0048484)|epidermis development (GO:0008544)|glial cell fate determination (GO:0007403)|induction of positive chemotaxis (GO:0050930)|mechanoreceptor differentiation (GO:0042490)|myelination (GO:0042552)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive chemotaxis (GO:0050918)|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 glial cell differentiation (GO:0045687)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of synaptic transmission (GO:0050804)|signal transduction (GO:0007165)|smooth muscle cell differentiation (GO:0051145)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular region (GO:0005576)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						ACATCACGGCGGAAACGGTAC	0.607																																					GBM(194;1104 2182 8339 9578 18493)	ENST00000423158.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						c.(445-447)cGg>cAg		neurotrophin 3							90.0	84.0	86.0					12																	5603787		2203	4300	6503	SO:0001583	missense	4908				signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding	g.chr12:5603787G>A		CCDS8538.1, CCDS44806.1	12p13	2014-01-30			ENSG00000185652	ENSG00000185652		"""Endogenous ligands"""	8023	protein-coding gene	gene with protein product		162660				1889806	Standard	NM_002527		Approved	NGF2	uc001qnk.4	P20783	OTTHUMG00000168649	ENST00000331010.6:c.407G>A	12.37:g.5603787G>A	ENSP00000328738:p.Arg136Gln					NTF3_ENST00000331010.6_Missense_Mutation_p.R136Q|NTF3_ENST00000535299.1_Intron	p.R149Q	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN			2	658	+			136					B7Z1T5|Q6FH50	Missense_Mutation	SNP	ENST00000331010.6	37	c.446G>A	CCDS8538.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.015954	0.54468	.	.	ENSG00000185652	ENST00000423158;ENST00000331010	T;T	0.42131	0.98;0.98	5.52	5.52	0.82312	.	0.116733	0.53938	D	0.000044	T	0.38746	0.1052	L	0.52011	1.625	0.46078	D	0.998851	B;B	0.31209	0.313;0.313	B;B	0.14578	0.011;0.007	T	0.23511	-1.0186	10	0.49607	T	0.09	-13.1644	18.4188	0.90582	0.0:0.0:1.0:0.0	.	136;149	P20783;B7Z1T5	NTF3_HUMAN;.	Q	149;136	ENSP00000397297:R149Q;ENSP00000328738:R136Q	ENSP00000328738:R136Q	R	+	2	0	NTF3	5474048	1.000000	0.71417	0.993000	0.49108	0.934000	0.57294	6.096000	0.71446	2.610000	0.88304	0.591000	0.81541	CGG		0.607	NTF3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400486.1			12	43	0	0	0	1	0	12	43				
ALX1	8092	broad.mit.edu	37	12	85674179	85674179	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr12:85674179G>A	ENST00000316824.3	+	1	295	c.140G>A	c.(139-141)gGc>gAc	p.G47D		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	47					anterior/posterior pattern specification (GO:0009952)|brain development (GO:0007420)|cartilage condensation (GO:0001502)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|mesenchymal cell development (GO:0014031)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		GCGTCTGCAGGCAAATGCGTG	0.597																																						ENST00000316824.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26						c.(139-141)gGc>gAc		ALX homeobox 1							54.0	54.0	54.0					12																	85674179		2203	4300	6503	SO:0001583	missense	8092				brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:85674179G>A	U31986	CCDS9028.1	12q21.31	2011-06-20	2007-07-26	2007-07-26		ENSG00000180318		"""Homeoboxes / PRD class"""	1494	protein-coding gene	gene with protein product		601527	"""cartilage paired-class homeoprotein 1"""	CART1		8756334, 7592751	Standard	NM_006982		Approved		uc001tae.4	Q15699	OTTHUMG00000169820	ENST00000316824.3:c.140G>A	12.37:g.85674179G>A	ENSP00000315417:p.Gly47Asp						p.G47D	NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN		GBM - Glioblastoma multiforme(134;0.134)	1	295	+			47					Q546C8|Q96FH4	Missense_Mutation	SNP	ENST00000316824.3	37	c.140G>A	CCDS9028.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.173669	0.38413	.	.	ENSG00000180318	ENST00000316824	D	0.92595	-3.07	5.69	4.78	0.61160	.	0.323359	0.39020	N	0.001499	D	0.84750	0.5541	N	0.08118	0	0.36965	D	0.893547	B	0.18610	0.029	B	0.21708	0.036	T	0.82311	-0.0520	10	0.52906	T	0.07	.	16.4988	0.84252	0.0:0.1311:0.8689:0.0	.	47	Q15699	ALX1_HUMAN	D	47	ENSP00000315417:G47D	ENSP00000315417:G47D	G	+	2	0	ALX1	84198310	1.000000	0.71417	0.966000	0.40874	0.534000	0.34807	4.746000	0.62133	1.357000	0.45904	0.650000	0.86243	GGC		0.597	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406072.1	NM_006982		3	46	0	0	0	1	0	3	46				
KDR	3791	broad.mit.edu	37	4	55971085	55971085	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr4:55971085C>T	ENST00000263923.4	-	13	2007	c.1712G>A	c.(1711-1713)tGc>tAc	p.C571Y		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	571	Ig-like C2-type 6.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|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 endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTCTGCAGTGCACCACAAAGA	0.502			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												ENST00000263923.4				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"""NSCLC, angiosarcoma"""		0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.(1711-1713)tGc>tAc		kinase insert domain receptor (a type III receptor tyrosine kinase)	Sorafenib(DB00398)|Sunitinib(DB01268)						108.0	96.0	100.0					4																	55971085		2203	4300	6503	SO:0001583	missense	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55971085C>T	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.1712G>A	4.37:g.55971085C>T	ENSP00000263923:p.Cys571Tyr	TSP Lung(20;0.16)					p.C571Y	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		13	2007	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		571			Ig-like C2-type 6.		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.1712G>A	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.429782	0.62844	.	.	ENSG00000128052	ENST00000263923	D	0.94537	-3.45	5.86	5.86	0.93980	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.97567	0.9203	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97715	1.0193	10	0.87932	D	0	.	20.1785	0.98192	0.0:1.0:0.0:0.0	.	571;571	P35968-2;P35968	.;VGFR2_HUMAN	Y	571	ENSP00000263923:C571Y	ENSP00000263923:C571Y	C	-	2	0	KDR	55665842	1.000000	0.71417	0.990000	0.47175	0.074000	0.17049	7.030000	0.76484	2.773000	0.95371	0.655000	0.94253	TGC		0.502	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			13	38	0	0	0	1	0	13	38				
MLLT3	4300	broad.mit.edu	37	9	20414346	20414346	+	Silent	SNP	G	G	A			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr9:20414346G>A	ENST00000380338.4	-	5	784	c.498C>T	c.(496-498)agC>agT	p.S166S	MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000475957.1_5'UTR|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	166	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.S166S(4)		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)		tgctgctactgctgctgctgc	0.527			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		4	Substitution - coding silent(4)	p.S166S(4)	urinary_tract(2)|lung(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.(496-498)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414346		1434	3114	4548	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414346G>A	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.498C>T	9.37:g.20414346G>A						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000355930.6_5'UTR	p.S166S	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	784	-			166			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.498C>T	CCDS6494.1																																																																																				0.527	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		5	50	0	0	0	1	0	5	50				
PCDHA4	56144	broad.mit.edu	37	5	140188443	140188443	+	Silent	SNP	C	C	T			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr5:140188443C>T	ENST00000530339.1	+	1	1671	c.1671C>T	c.(1669-1671)gaC>gaT	p.D557D	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.D557D|PCDHA4_ENST00000356878.4_Silent_p.D557D|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	557	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGTGCTGGACGAAAACGACA	0.667																																						ENST00000530339.1																			0				breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78						c.(1669-1671)gaC>gaT									75.0	76.0	76.0					5																	140188443		2203	4298	6501	SO:0001819	synonymous_variant	0							g.chr5:140188443C>T	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1671C>T	5.37:g.140188443C>T						PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.D557D|PCDHA4_ENST00000356878.4_Silent_p.D557D|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	p.D557D	NM_018907.2	NP_061730.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1671	+								O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	c.1671C>T	CCDS54916.1																																																																																				0.667	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		27	35	0	0	0	1	0	27	35				
TMEM132D	121256	broad.mit.edu	37	12	129559588	129559588	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr12:129559588C>A	ENST00000422113.2	-	9	2458	c.2132G>T	c.(2131-2133)tGc>tTc	p.C711F	TMEM132D_ENST00000389441.4_Missense_Mutation_p.C249F	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	711					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CTGGACCCAGCAACTGATGGC	0.463																																						ENST00000422113.2																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(2131-2133)tGc>tTc		transmembrane protein 132D							43.0	40.0	41.0					12																	129559588		2203	4299	6502	SO:0001583	missense	121256					integral to membrane		g.chr12:129559588C>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2132G>T	12.37:g.129559588C>A	ENSP00000408581:p.Cys711Phe					TMEM132D_ENST00000389441.4_Missense_Mutation_p.C249F	p.C711F	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	9	2458	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	711					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.2132G>T	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.904423	0.33628	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.13089	2.62;2.62	4.43	4.43	0.53597	.	0.138173	0.51477	D	0.000087	T	0.34483	0.0899	M	0.65498	2.005	0.46356	D	0.999007	D;D	0.71674	0.998;0.991	D;D	0.65443	0.935;0.932	T	0.07908	-1.0748	9	.	.	.	-36.4454	17.4049	0.87470	0.0:1.0:0.0:0.0	.	711;249	Q14C87;Q14C87-2	T132D_HUMAN;.	F	249;711	ENSP00000374092:C249F;ENSP00000408581:C711F	.	C	-	2	0	TMEM132D	128125541	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.951000	0.63610	2.161000	0.67846	0.563000	0.77884	TGC		0.463	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		9	25	1	0	9.70103e-10	1	1.11562e-09	9	25				
SARDH	1757	broad.mit.edu	37	9	136596528	136596528	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr9:136596528C>G	ENST00000371872.4	-	4	846	c.589G>C	c.(589-591)Gac>Cac	p.D197H	SARDH_ENST00000422262.2_Missense_Mutation_p.D29H|SARDH_ENST00000298628.5_Missense_Mutation_p.D197H|SARDH_ENST00000439388.1_Missense_Mutation_p.D197H|SARDH_ENST00000371867.1_Missense_Mutation_p.D108H	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	197					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		TAGAGGTCGTCCACATTCATC	0.632																																						ENST00000371872.4																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44						c.(589-591)Gac>Cac		sarcosine dehydrogenase							135.0	122.0	127.0					9																	136596528		2203	4300	6503	SO:0001583	missense	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136596528C>G		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.589G>C	9.37:g.136596528C>G	ENSP00000360938:p.Asp197His					SARDH_ENST00000298628.5_Missense_Mutation_p.D197H|SARDH_ENST00000371867.1_Missense_Mutation_p.D108H|SARDH_ENST00000422262.2_Missense_Mutation_p.D29H|SARDH_ENST00000439388.1_Missense_Mutation_p.D197H	p.D197H	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	4	846	-			197					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	ENST00000371872.4	37	c.589G>C	CCDS6978.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584337	0.86748	.	.	ENSG00000123453	ENST00000371872;ENST00000439388;ENST00000422262;ENST00000427237;ENST00000539227;ENST00000535281;ENST00000371867;ENST00000393050;ENST00000298628	D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64	5.19	5.19	0.71726	FAD dependent oxidoreductase (1);	0.259771	0.43416	D	0.000579	D	0.88258	0.6388	L	0.54965	1.715	0.53005	D	0.999964	P	0.46621	0.881	P	0.58577	0.841	D	0.88206	0.2887	10	0.51188	T	0.08	-25.914	18.6935	0.91592	0.0:1.0:0.0:0.0	.	197	Q9UL12	SARDH_HUMAN	H	197;197;29;197;197;197;108;175;197	ENSP00000360938:D197H;ENSP00000403084:D197H;ENSP00000415537:D29H;ENSP00000360933:D108H;ENSP00000298628:D197H	ENSP00000298628:D197H	D	-	1	0	SARDH	135586349	1.000000	0.71417	0.990000	0.47175	0.891000	0.51852	2.465000	0.45075	2.405000	0.81733	0.591000	0.81541	GAC		0.632	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			5	31	0	0	0	1	0	5	31				
KLK3	354	broad.mit.edu	37	19	51361552	51361552	+	Silent	SNP	C	C	G			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr19:51361552C>G	ENST00000326003.2	+	3	515	c.474C>G	c.(472-474)ggC>ggG	p.G158G	KLK3_ENST00000595952.1_Silent_p.G115G|KLK3_ENST00000360617.3_Silent_p.G158G|KLK3_ENST00000597483.1_Silent_p.G115G|KLK3_ENST00000593997.1_Silent_p.G158G	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	P07288	KLK3_HUMAN	kallikrein-related peptidase 3	158	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular protein metabolic process (GO:0044267)|negative regulation of angiogenesis (GO:0016525)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		CAGGCTGGGGCAGCATTGAAC	0.652																																					Colon(185;1767 2023 13025 30120 37630)	ENST00000360617.3																			0				breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(472-474)ggC>ggG		kallikrein-related peptidase 3							52.0	50.0	50.0					19																	51361552		2203	4300	6503	SO:0001819	synonymous_variant	354				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51361552C>G	X14810	CCDS12807.1, CCDS33083.1, CCDS46155.1	19q13.41	2012-10-02	2006-10-27			ENSG00000142515		"""Kallikreins"""	6364	protein-coding gene	gene with protein product		176820	"""kallikrein 3, (prostate specific antigen)"""	APS		2456523, 2436946, 16800724, 16800723	Standard	NM_001648		Approved	PSA	uc021uyi.1	P07288		ENST00000326003.2:c.474C>G	19.37:g.51361552C>G						KLK3_ENST00000593997.1_Silent_p.G158G|KLK3_ENST00000595952.1_Silent_p.G115G|KLK3_ENST00000597483.1_Silent_p.G115G|KLK3_ENST00000326003.2_Silent_p.G158G	p.G158G			P07288	KLK3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)	3	474	+		all_neural(266;0.057)	158			Peptidase S1.		C9JXH3|G3V0H4|G3XAE3|Q15096|Q16272|Q86TG8|Q8IXI4	Silent	SNP	ENST00000326003.2	37	c.474C>G	CCDS12807.1																																																																																				0.652	KLK3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464067.1	NM_145864		12	18	0	0	0	1	0	12	18				
CTRL	1506	broad.mit.edu	37	16	67963908	67963908	+	Missense_Mutation	SNP	G	G	A	rs200739617		TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr16:67963908G>A	ENST00000574481.1	-	7	1285	c.724C>T	c.(724-726)Cgc>Tgc	p.R242C	CTRL_ENST00000576408.1_5'Flank	NM_001907.2	NP_001898.1	P40313	CTRL_HUMAN	chymotrypsin-like	242	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|urinary_tract(1)	4		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		GCAGGTGCGCGCACATTGCAG	0.552													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20028	0.0		0.0	False		,,,				2504	0.0					ENST00000574481.1																			0				kidney(1)|large_intestine(2)|urinary_tract(1)	4						c.(724-726)Cgc>Tgc		chymotrypsin-like							139.0	135.0	137.0					16																	67963908		2198	4300	6498	SO:0001583	missense	1506				digestion|proteolysis	extracellular space	serine-type endopeptidase activity	g.chr16:67963908G>A		CCDS10852.1	16q22.1	2008-02-05			ENSG00000141086	ENSG00000141086			2524	protein-coding gene	gene with protein product		118888				8268911	Standard	NM_001907		Approved		uc002euw.3	P40313	OTTHUMG00000137552	ENST00000574481.1:c.724C>T	16.37:g.67963908G>A	ENSP00000458537:p.Arg242Cys						p.R242C	NM_001907.2	NP_001898.1	P40313	CTRL_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)	7	1285	-		Ovarian(137;0.192)	242			Peptidase S1.			Missense_Mutation	SNP	ENST00000574481.1	37	c.724C>T	CCDS10852.1	3	0.0013736263736263737	1	0.0020325203252032522	0	0.0	0	0.0	2	0.002638522427440633	G	16.28	3.078706	0.55753	.	.	ENSG00000141086	ENST00000319955	.	.	.	5.74	-11.5	0.00074	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.903150	0.02449	N	0.085345	T	0.39091	0.1065	L	0.60067	1.865	0.09310	N	1	D	0.62365	0.991	P	0.58970	0.849	T	0.62426	-0.6857	9	0.54805	T	0.06	-11.3366	0.6454	0.00817	0.3453:0.1325:0.1914:0.3309	.	242	P40313	CTRL_HUMAN	C	242	.	ENSP00000322629:R242C	R	-	1	0	CTRL	66521409	0.000000	0.05858	0.000000	0.03702	0.523000	0.34469	-3.484000	0.00455	-2.232000	0.00717	0.491000	0.48974	CGC		0.552	CTRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268886.3			23	60	0	0	0	1	0	23	60				
CTBS	1486	broad.mit.edu	37	1	85029048	85029048	+	Silent	SNP	G	G	A	rs367692581		TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr1:85029048G>A	ENST00000370630.5	-	6	897	c.849C>T	c.(847-849)gaC>gaT	p.D283D	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	283					chitin catabolic process (GO:0006032)|oligosaccharide catabolic process (GO:0009313)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	chitinase activity (GO:0004568)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		GTCCTGCAGCGTCACTACAAG	0.403																																						ENST00000370630.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9						c.(847-849)gaC>gaT		chitobiase, di-N-acetyl-		G		0,4404		0,0,2202	50.0	56.0	54.0		849	0.4	0.0	1		54	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CTBS	NM_004388.2		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		283/386	85029048	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	1486					lysosome	cation binding	g.chr1:85029048G>A	M95767	CCDS698.1	1p22	2010-05-04			ENSG00000117151	ENSG00000117151	3.2.1.-		2496	protein-coding gene	gene with protein product		600873		CTB		1549114, 7606925	Standard	NM_004388		Approved		uc001dka.2	Q01459	OTTHUMG00000009922	ENST00000370630.5:c.849C>T	1.37:g.85029048G>A						CTBS_ENST00000477677.1_5'UTR	p.D283D	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN		all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)	6	897	-			283					Q5VX50	Silent	SNP	ENST00000370630.5	37	c.849C>T	CCDS698.1																																																																																				0.403	CTBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027457.2	NM_004388		27	30	0	0	0	1	0	27	30				
GRIN2B	2904	broad.mit.edu	37	12	13769401	13769401	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr12:13769401C>T	ENST00000609686.1	-	5	1525	c.1316G>A	c.(1315-1317)cGc>cAc	p.R439H		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	439					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.R439H(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AGTGACTATGCGTTTTTGGCA	0.532																																						ENST00000279593.3																			1	Substitution - Missense(1)	p.R439H(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(1315-1317)cGc>cAc		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						150.0	118.0	129.0					12																	13769401		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13769401C>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.1316G>A	12.37:g.13769401C>T	ENSP00000477455:p.Arg439His						p.R439H	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			5	1525	-			439					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.1316G>A	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.631256	0.28978	.	.	ENSG00000150086	ENST00000279593	T	0.11277	2.79	5.53	5.53	0.82687	Ionotropic glutamate receptor (1);	0.058685	0.64402	D	0.000001	T	0.03783	0.0107	N	0.01352	-0.895	0.49389	D	0.999782	B	0.06786	0.001	B	0.06405	0.002	T	0.48234	-0.9053	10	0.13108	T	0.6	.	12.7632	0.57376	0.0:0.9251:0.0:0.0749	.	439	Q13224	NMDE2_HUMAN	H	439	ENSP00000279593:R439H	ENSP00000279593:R439H	R	-	2	0	GRIN2B	13660668	1.000000	0.71417	0.986000	0.45419	0.947000	0.59692	5.400000	0.66320	2.579000	0.87056	0.563000	0.77884	CGC		0.532	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			14	33	0	0	0	1	0	14	33				
SARDH	1757	broad.mit.edu	37	9	136594963	136594963	+	Missense_Mutation	SNP	C	C	T	rs140509709	byFrequency	TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr9:136594963C>T	ENST00000371872.4	-	6	1096	c.839G>A	c.(838-840)cGg>cAg	p.R280Q	SARDH_ENST00000422262.2_Missense_Mutation_p.R112Q|SARDH_ENST00000298628.5_Missense_Mutation_p.R280Q|SARDH_ENST00000439388.1_Missense_Mutation_p.R280Q|SARDH_ENST00000371867.1_Missense_Mutation_p.R191Q	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	280					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		TCCAGCCATCCGGCCCACAGC	0.642													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18893	0.0		0.0	False		,,,				2504	0.0					ENST00000371872.4																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44						c.(838-840)cGg>cAg		sarcosine dehydrogenase		C	GLN/ARG,GLN/ARG	19,4387	26.2+/-53.5	0,19,2184	85.0	69.0	74.0		839,839	3.0	1.0	9	dbSNP_134	74	0,8600		0,0,4300	yes	missense,missense	SARDH	NM_001134707.1,NM_007101.3	43,43	0,19,6484	TT,TC,CC		0.0,0.4312,0.1461	benign,benign	280/919,280/919	136594963	19,12987	2203	4300	6503	SO:0001583	missense	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136594963C>T		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.839G>A	9.37:g.136594963C>T	ENSP00000360938:p.Arg280Gln					SARDH_ENST00000298628.5_Missense_Mutation_p.R280Q|SARDH_ENST00000371867.1_Missense_Mutation_p.R191Q|SARDH_ENST00000422262.2_Missense_Mutation_p.R112Q|SARDH_ENST00000439388.1_Missense_Mutation_p.R280Q	p.R280Q	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	6	1096	-			280					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	ENST00000371872.4	37	c.839G>A	CCDS6978.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	10.01	1.233992	0.22626	0.004312	0.0	ENSG00000123453	ENST00000371872;ENST00000439388;ENST00000422262;ENST00000427237;ENST00000539227;ENST00000535281;ENST00000371867;ENST00000393050;ENST00000298628	D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54	5.13	3.02	0.34903	FAD dependent oxidoreductase (1);	0.329365	0.31601	N	0.007362	T	0.59032	0.2164	N	0.11845	0.185	0.26294	N	0.978089	B	0.10296	0.003	B	0.12156	0.007	T	0.40365	-0.9567	10	0.13853	T	0.58	-33.5833	7.0449	0.25040	0.0:0.6246:0.0:0.3754	.	280	Q9UL12	SARDH_HUMAN	Q	280;280;112;280;280;280;191;258;280	ENSP00000360938:R280Q;ENSP00000403084:R280Q;ENSP00000415537:R112Q;ENSP00000360933:R191Q;ENSP00000298628:R280Q	ENSP00000298628:R280Q	R	-	2	0	SARDH	135584784	0.009000	0.17119	0.992000	0.48379	0.795000	0.44927	0.303000	0.19210	1.157000	0.42530	0.467000	0.42956	CGG		0.642	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			4	29	0	0	0	1	0	4	29				
ACO2	50	broad.mit.edu	37	22	41911452	41911452	+	Silent	SNP	C	C	T	rs374086380		TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr22:41911452C>T	ENST00000216254.4	+	5	619	c.597C>T	c.(595-597)ggC>ggT	p.G199G	ACO2_ENST00000396512.3_Silent_p.G199G	NM_001098.2	NP_001089.1	Q99798	ACON_HUMAN	aconitase 2, mitochondrial	199				G -> D (in Ref. 4; CAG38805). {ECO:0000305}.	cell death (GO:0008219)|cellular metabolic process (GO:0044237)|citrate metabolic process (GO:0006101)|generation of precursor metabolites and energy (GO:0006091)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3 iron, 4 sulfur cluster binding (GO:0051538)|4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron ion binding (GO:0005506)			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						CCAATGGTGGCGGCCTTGGGG	0.527																																						ENST00000396512.3																			0				breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						c.(595-597)ggC>ggT		aconitase 2, mitochondrial		T		0,4406		0,0,2203	69.0	71.0	71.0		597	-9.0	0.4	22		71	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ACO2	NM_001098.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		199/781	41911452	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	50				citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity	g.chr22:41911452C>T	AH006514	CCDS14017.1	22q13.2	2013-05-21			ENSG00000100412	ENSG00000100412	4.2.1.3		118	protein-coding gene	gene with protein product	"""aconitate hydratase, mitochondrial"""	100850				10591208	Standard	NM_001098		Approved	ACONM	uc003bac.3	Q99798	OTTHUMG00000030544	ENST00000216254.4:c.597C>T	22.37:g.41911452C>T						ACO2_ENST00000216254.4_Silent_p.G199G	p.G199G			Q99798	ACON_HUMAN			5	614	+			199	G -> D (in Ref. 4; CAG38805).				O75809|Q5JZ41|Q6FHX0|Q8TAQ6	Silent	SNP	ENST00000216254.4	37	c.597C>T	CCDS14017.1																																																																																				0.527	ACO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259151.1	NM_001098		29	58	0	0	0	1	0	29	58				
KCNV2	169522	broad.mit.edu	37	9	2718996	2718996	+	Silent	SNP	C	C	T			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr9:2718996C>T	ENST00000382082.3	+	1	1495	c.1257C>T	c.(1255-1257)gcC>gcT	p.A419A		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	419					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)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		TCTTCATCGCCATGGGCATCT	0.637																																						ENST00000382082.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35						c.(1255-1257)gcC>gcT		potassium channel, subfamily V, member 2							74.0	63.0	67.0					9																	2718996		2203	4300	6503	SO:0001819	synonymous_variant	169522					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr9:2718996C>T	AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.1257C>T	9.37:g.2718996C>T							p.A419A	NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN		GBM - Glioblastoma multiforme(50;0.0257)	1	1495	+			419					Q5T6X0	Silent	SNP	ENST00000382082.3	37	c.1257C>T	CCDS6447.1																																																																																				0.637	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	NM_133497		10	21	0	0	0	1	0	10	21				
UCMA	221044	broad.mit.edu	37	10	13275576	13275576	+	Missense_Mutation	SNP	C	C	T	rs377345564		TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr10:13275576C>T	ENST00000378681.3	-	3	254	c.182G>A	c.(181-183)cGc>cAc	p.R61H	UCMA_ENST00000463405.2_Missense_Mutation_p.R39H	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN	upper zone of growth plate and cartilage matrix associated	61					negative regulation of osteoblast differentiation (GO:0045668)	aggresome (GO:0016235)|extracellular space (GO:0005615)|perinuclear region of cytoplasm (GO:0048471)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						CCGCTTGCCGCGCCTCTTGAG	0.582																																						ENST00000378681.3																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						c.(181-183)cGc>cAc		upper zone of growth plate and cartilage matrix associated		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	85.0	89.0	88.0		182	2.4	0.0	10		88	1,8599	1.2+/-3.3	0,1,4299	no	missense	UCMA	NM_145314.1	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	61/139	13275576	2,13004	2203	4300	6503	SO:0001583	missense	221044					proteinaceous extracellular matrix		g.chr10:13275576C>T	BC018068	CCDS31147.1	10p13	2009-03-25	2009-03-25	2009-03-25	ENSG00000165623	ENSG00000165623			25205	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 49"""	C10orf49		12477932	Standard	NM_145314		Approved		uc001imd.3	Q8WVF2	OTTHUMG00000017692	ENST00000378681.3:c.182G>A	10.37:g.13275576C>T	ENSP00000367952:p.Arg61His					UCMA_ENST00000463405.2_Missense_Mutation_p.R39H	p.R61H	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN			3	254	-			61						Missense_Mutation	SNP	ENST00000378681.3	37	c.182G>A	CCDS31147.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.634208	0.47049	2.27E-4	1.16E-4	ENSG00000165623	ENST00000378681	.	.	.	5.3	2.38	0.29361	.	0.107264	0.64402	N	0.000007	T	0.47563	0.1452	L	0.58428	1.81	0.46149	D	0.998899	B	0.29805	0.257	B	0.26202	0.067	T	0.39251	-0.9623	9	0.59425	D	0.04	-7.4447	5.8083	0.18452	0.1541:0.6815:0.0:0.1644	.	61	Q8WVF2	UCMA_HUMAN	H	61	.	ENSP00000367952:R61H	R	-	2	0	UCMA	13315582	0.424000	0.25490	0.043000	0.18650	0.929000	0.56500	0.729000	0.26028	0.222000	0.20900	0.655000	0.94253	CGC		0.582	UCMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046843.2	NM_145314		42	63	0	0	0	1	0	42	63				
PPP1R9B	84687	broad.mit.edu	37	17	48216860	48216860	+	Silent	SNP	C	C	T	rs146365088	byFrequency	TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr17:48216860C>T	ENST00000316878.6	-	8	1949	c.1947G>A	c.(1945-1947)gcG>gcA	p.A649A	PPP1R9B_ENST00000501501.2_5'UTR|AC002401.1_ENST00000451776.1_RNA	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B	649	Interacts with TGN38. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to morphine (GO:0071315)|dendrite development (GO:0016358)|filopodium assembly (GO:0046847)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of cell proliferation (GO:0042127)|regulation of exit from mitosis (GO:0007096)|regulation of opioid receptor signaling pathway (GO:2000474)|regulation of protein phosphorylation (GO:0001932)|RNA splicing (GO:0008380)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|protein phosphatase type 1 complex (GO:0000164)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						CCTCGTTCTCCGCTAGCTCAA	0.617													C|||	13	0.00259585	0.0091	0.0	5008	,	,		22392	0.001		0.0	False		,,,				2504	0.0					ENST00000316878.6																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						c.(1945-1947)gcG>gcA		protein phosphatase 1, regulatory subunit 9B		C		12,4328		0,12,2158	153.0	166.0	162.0		1949	-4.8	0.8	17	dbSNP_134	162	0,8530		0,0,4265	yes	coding-synonymous	PPP1R9B	NM_032595.3		0,12,6423	TT,TC,CC		0.0,0.2765,0.0932		651/818	48216860	12,12858	2170	4265	6435	SO:0001819	synonymous_variant	84687				cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing	adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse	actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity	g.chr17:48216860C>T	AJ401189	CCDS74102.1	17q21.33	2013-01-31	2011-10-04	2001-07-02	ENSG00000108819	ENSG00000108819		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9298	protein-coding gene	gene with protein product	"""spinophilin"", ""Neurabin-2"""	603325	"""protein phosphatase 1, regulatory subunit 9B, spinophilin"", ""protein phosphatase 1, regulatory (inhibitor) subunit 9B"""	PPP1R6, PPP1R9		9275233	Standard	NM_032595		Approved	Spn, SPINO	uc002iqh.4	Q96SB3	OTTHUMG00000162008	ENST00000316878.6:c.1947G>A	17.37:g.48216860C>T						PPP1R9B_ENST00000501501.2_5'UTR|AC002401.1_ENST00000451776.1_RNA	p.A649A	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN			8	1949	-			649			Interacts with TGN38 (By similarity).		Q8TCR9	Silent	SNP	ENST00000316878.6	37	c.1947G>A																																																																																					0.617	PPP1R9B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032595		33	69	0	0	0	1	0	33	69				
SARDH	1757	broad.mit.edu	37	9	136595289	136595289	+	Silent	SNP	C	C	T			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr9:136595289C>T	ENST00000371872.4	-	5	968	c.711G>A	c.(709-711)gtG>gtA	p.V237V	SARDH_ENST00000422262.2_Silent_p.V69V|SARDH_ENST00000298628.5_Silent_p.V237V|SARDH_ENST00000439388.1_Silent_p.V237V|SARDH_ENST00000371867.1_Silent_p.V148V	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	237					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GAATGCCGGTCACTGGGCAGT	0.597																																						ENST00000371872.4																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44						c.(709-711)gtG>gtA		sarcosine dehydrogenase							87.0	82.0	84.0					9																	136595289		2203	4300	6503	SO:0001819	synonymous_variant	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136595289C>T		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.711G>A	9.37:g.136595289C>T						SARDH_ENST00000298628.5_Silent_p.V237V|SARDH_ENST00000371867.1_Silent_p.V148V|SARDH_ENST00000422262.2_Silent_p.V69V|SARDH_ENST00000439388.1_Silent_p.V237V	p.V237V	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	5	968	-			237					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Silent	SNP	ENST00000371872.4	37	c.711G>A	CCDS6978.1																																																																																				0.597	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			3	37	0	0	0	1	0	3	37				
TP53	7157	broad.mit.edu	37	17	7578525	7578525	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr17:7578525G>C	ENST00000269305.4	-	5	594	c.405C>G	c.(403-405)tgC>tgG	p.C135W	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.C135W|TP53_ENST00000420246.2_Missense_Mutation_p.C135W|TP53_ENST00000445888.2_Missense_Mutation_p.C135W|TP53_ENST00000359597.4_Missense_Mutation_p.C135W|TP53_ENST00000413465.2_Missense_Mutation_p.C135W	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	135	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C135W(24)|p.0?(8)|p.C135*(7)|p.C135C(5)|p.C135fs*9(3)|p.N131fs*27(2)|p.Q136fs*13(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*15(1)|p.C135fs*14(1)|p.Y126fs*11(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.C3W(1)|p.C42W(1)|p.C135_T140delCQLAKT(1)|p.Q136*(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGGCCAGTTGGCAAAACATCT	0.567		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		68	Substitution - Missense(27)|Deletion - Frameshift(9)|Substitution - Nonsense(8)|Whole gene deletion(8)|Substitution - coding silent(5)|Deletion - In frame(4)|Insertion - Frameshift(4)|Insertion - In frame(2)|Complex - deletion inframe(1)	p.C135W(24)|p.0?(8)|p.C135*(7)|p.C135C(5)|p.C135fs*9(3)|p.N131fs*27(2)|p.Q136fs*13(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*15(1)|p.C135fs*14(1)|p.Y126fs*11(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.C3W(1)|p.C42W(1)|p.C135_T140delCQLAKT(1)|p.Q136*(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(1)	urinary_tract(11)|lung(8)|breast(7)|central_nervous_system(6)|oesophagus(6)|ovary(6)|haematopoietic_and_lymphoid_tissue(5)|bone(4)|upper_aerodigestive_tract(3)|large_intestine(3)|stomach(2)|skin(2)|prostate(2)|thyroid(1)|liver(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(403-405)tgC>tgG	Other conserved DNA damage response genes	tumor protein p53							51.0	51.0	51.0					17																	7578525		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578525G>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.405C>G	17.37:g.7578525G>C	ENSP00000269305:p.Cys135Trp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Missense_Mutation_p.C135W|TP53_ENST00000359597.4_Missense_Mutation_p.C135W|TP53_ENST00000455263.2_Missense_Mutation_p.C135W|TP53_ENST00000445888.2_Missense_Mutation_p.C135W|TP53_ENST00000269305.4_Missense_Mutation_p.C135W	p.C135W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	537	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	135		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.405C>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.337657	0.60963	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99801	-6.81;-6.81;-6.81;-6.81;-6.81;-6.81;-6.81;-6.81;-6.81	5.48	3.5	0.40072	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99691	0.9883	M	0.85945	2.785	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;1.0;0.99;1.0;1.0;1.0;1.0	D	0.98316	1.0526	10	0.72032	D	0.01	-26.815	10.0222	0.42051	0.1647:0.0:0.8353:0.0	.	96;135;135;42;135;135;135	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	W	135;135;135;135;135;135;124;42;3;42;3;135	ENSP00000410739:C135W;ENSP00000352610:C135W;ENSP00000269305:C135W;ENSP00000398846:C135W;ENSP00000391127:C135W;ENSP00000391478:C135W;ENSP00000425104:C3W;ENSP00000423862:C42W;ENSP00000424104:C135W	ENSP00000269305:C135W	C	-	3	2	TP53	7519250	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	0.645000	0.24782	0.798000	0.33994	0.655000	0.94253	TGC		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		7	9	0	0	0	1	0	7	9				
TRAPPC10	7109	broad.mit.edu	37	21	45475738	45475738	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr21:45475738G>C	ENST00000291574.4	+	5	817	c.642G>C	c.(640-642)gaG>gaC	p.E214D	TRAPPC10_ENST00000380221.3_Missense_Mutation_p.E214D	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	214					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						AGAGGACTGAGCCAGGCTGGA	0.453																																						ENST00000291574.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						c.(640-642)gaG>gaC		trafficking protein particle complex 10							167.0	167.0	167.0					21																	45475738		2203	4300	6503	SO:0001583	missense	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45475738G>C	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.642G>C	21.37:g.45475738G>C	ENSP00000291574:p.Glu214Asp					TRAPPC10_ENST00000380221.3_Missense_Mutation_p.E214D	p.E214D	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN			5	817	+			214					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Missense_Mutation	SNP	ENST00000291574.4	37	c.642G>C	CCDS13704.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.580285	0.46006	.	.	ENSG00000160218	ENST00000380221;ENST00000291574	T;T	0.36699	1.24;1.24	5.55	4.47	0.54385	Tetratricopeptide-like helical (1);	0.054220	0.64402	D	0.000001	T	0.31606	0.0802	L	0.42245	1.32	0.48762	D	0.999709	P;P	0.36837	0.53;0.571	B;B	0.36608	0.166;0.229	T	0.14144	-1.0483	10	0.52906	T	0.07	.	12.6165	0.56580	0.1477:0.0:0.8523:0.0	.	214;214	P48553;Q86SI7	TPC10_HUMAN;.	D	214	ENSP00000369570:E214D;ENSP00000291574:E214D	ENSP00000291574:E214D	E	+	3	2	TRAPPC10	44300166	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.954000	0.40362	2.592000	0.87571	0.655000	0.94253	GAG		0.453	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274		33	56	0	0	0	1	0	33	56				
TLR1	7096	broad.mit.edu	37	4	38798378	38798378	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr4:38798378T>G	ENST00000502213.2	-	3	2304	c.2075A>C	c.(2074-2076)aAg>aCg	p.K692T	TLR1_ENST00000510552.1_5'Flank|TLR1_ENST00000308979.2_Missense_Mutation_p.K692T			Q15399	TLR1_HUMAN	toll-like receptor 1	692	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						AAAGATGGACTTGTAACTCTT	0.403																																					GBM(5;216 373 40795 46382)	ENST00000308979.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						c.(2074-2076)aAg>aCg		toll-like receptor 1							185.0	175.0	178.0					4																	38798378		2203	4300	6503	SO:0001583	missense	7096				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity	g.chr4:38798378T>G	U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"""CD molecules"""	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.2075A>C	4.37:g.38798378T>G	ENSP00000421259:p.Lys692Thr					TLR1_ENST00000502213.2_Missense_Mutation_p.K692T	p.K692T	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN			4	2348	-			692			TIR.		D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Missense_Mutation	SNP	ENST00000502213.2	37	c.2075A>C	CCDS33973.1	.	.	.	.	.	.	.	.	.	.	T	18.99	3.740652	0.69304	.	.	ENSG00000174125	ENST00000308979;ENST00000502213	T;T	0.08896	3.04;3.04	5.2	5.2	0.72013	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.000000	0.64402	D	0.000005	T	0.35595	0.0937	M	0.89163	3.01	0.47698	D	0.999493	D	0.76494	0.999	D	0.87578	0.998	T	0.38607	-0.9653	10	0.87932	D	0	.	15.3625	0.74492	0.0:0.0:0.0:1.0	.	692	Q15399	TLR1_HUMAN	T	692	ENSP00000354932:K692T;ENSP00000421259:K692T	ENSP00000354932:K692T	K	-	2	0	TLR1	38474773	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.744000	0.55112	2.103000	0.63969	0.460000	0.39030	AAG		0.403	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3			14	136	0	0	0	1	0	14	136				
ARNTL2	56938	broad.mit.edu	37	12	27542200	27542200	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr12:27542200C>A	ENST00000266503.5	+	8	764	c.746C>A	c.(745-747)tCa>tAa	p.S249*	ARNTL2_ENST00000311001.5_Nonsense_Mutation_p.S235*|ARNTL2_ENST00000542388.1_Nonsense_Mutation_p.S164*|ARNTL2_ENST00000261178.5_Nonsense_Mutation_p.S201*|ARNTL2_ENST00000544915.1_Nonsense_Mutation_p.S215*|RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000395901.2_Nonsense_Mutation_p.S212*|ARNTL2_ENST00000546179.1_Nonsense_Mutation_p.S212*			Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	249	Interaction with PER2. {ECO:0000250|UniProtKB:Q2VPD4}.|PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					TTTGATATTTCACCAAGAGAA	0.333																																						ENST00000544915.1																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(643-645)tCa>tAa		aryl hydrocarbon receptor nuclear translocator-like 2							78.0	77.0	77.0					12																	27542200		2202	4296	6498	SO:0001587	stop_gained	56938				circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:27542200C>A	AF246961	CCDS8712.1, CCDS58219.1, CCDS58220.1, CCDS58221.1, CCDS58222.1	12p12.2-p11.2	2013-05-21			ENSG00000029153	ENSG00000029153		"""Basic helix-loop-helix proteins"""	18984	protein-coding gene	gene with protein product		614517				10864977, 10964693	Standard	NM_020183		Approved	BMAL2, MOP9, CLIF, PASD9, bHLHe6	uc001rht.2	Q8WYA1	OTTHUMG00000169257	ENST00000266503.5:c.746C>A	12.37:g.27542200C>A	ENSP00000266503:p.Ser249*					ARNTL2_ENST00000546179.1_Nonsense_Mutation_p.S212*|ARNTL2_ENST00000542388.1_Nonsense_Mutation_p.S164*|ARNTL2_ENST00000395901.2_Nonsense_Mutation_p.S212*|ARNTL2_ENST00000261178.5_Nonsense_Mutation_p.S201*|ARNTL2_ENST00000266503.5_Nonsense_Mutation_p.S249*|ARNTL2_ENST00000311001.5_Nonsense_Mutation_p.S235*	p.S215*	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN			7	863	+	Colorectal(261;0.0847)|Lung SC(9;0.184)		249			PAS 1.		B7Z429|F5H402|Q8WYA2|Q8WYA3|Q8WYA4|Q96J63|Q9H2M4|Q9NS70|Q9NYQ4|Q9NYQ5	Nonsense_Mutation	SNP	ENST00000266503.5	37	c.644C>A	CCDS8712.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.85|19.85	3.903817|3.903817	0.72754|0.72754	.|.	.|.	ENSG00000029153|ENSG00000029153	ENST00000457040|ENST00000544915;ENST00000395901;ENST00000546179;ENST00000311001;ENST00000261178;ENST00000266503;ENST00000542388	.|.	.|.	.|.	3.99|3.99	3.99|3.99	0.46301|0.46301	.|.	.|0.475542	.|0.22608	.|N	.|0.057863	T|.	0.26268|.	0.0641|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.24693|.	-1.0153|.	3|.	.|0.02654	.|T	.|1	.|.	11.3188|11.3188	0.49407|0.49407	0.0:0.9108:0.0:0.0892|0.0:0.9108:0.0:0.0892	.|.	.|.	.|.	.|.	N|X	201|215;212;212;235;201;249;164	.|.	.|ENSP00000261178:S201X	H|S	+|+	1|2	0|0	ARNTL2|ARNTL2	27433467|27433467	0.002000|0.002000	0.14202|0.14202	0.997000|0.997000	0.53966|0.53966	0.950000|0.950000	0.60333|0.60333	0.477000|0.477000	0.22196|0.22196	2.232000|2.232000	0.73038|0.73038	0.655000|0.655000	0.94253|0.94253	CAC|TCA		0.333	ARNTL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403162.1	NM_020183		10	27	1	0	0.000442599	1	0.000462718	10	27				
NAA25	80018	broad.mit.edu	37	12	112518881	112518881	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr12:112518881T>A	ENST00000261745.4	-	5	708	c.460A>T	c.(460-462)Atg>Ttg	p.M154L		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	154						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						ATTAAGCTCATCACAGACCAA	0.348																																						ENST00000261745.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						c.(460-462)Atg>Ttg		N(alpha)-acetyltransferase 25, NatB auxiliary subunit							166.0	176.0	173.0					12																	112518881		2203	4300	6503	SO:0001583	missense	80018					cytoplasm	protein binding	g.chr12:112518881T>A	AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.460A>T	12.37:g.112518881T>A	ENSP00000261745:p.Met154Leu						p.M154L	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN			5	708	-			154					A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Missense_Mutation	SNP	ENST00000261745.4	37	c.460A>T	CCDS9159.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.25|18.25	3.583428|3.583428	0.65992|0.65992	.|.	.|.	ENSG00000111300|ENSG00000111300	ENST00000547133|ENST00000261745	.|T	.|0.25250	.|1.81	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.42381|0.42381	0.1200|0.1200	L|L	0.52011|0.52011	1.625|1.625	0.80722|0.80722	D|D	1|1	.|D;D	.|0.53462	.|0.96;0.96	.|D;D	.|0.64321	.|0.924;0.924	T|T	0.09862|0.09862	-1.0655|-1.0655	5|10	.|0.22706	.|T	.|0.39	-15.4954|-15.4954	15.7929|15.7929	0.78380|0.78380	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|154;154	.|A8K8X0;Q14CX7	.|.;NAA25_HUMAN	V|L	115|154	.|ENSP00000261745:M154L	.|ENSP00000261745:M154L	D|M	-|-	2|1	0|0	NAA25|NAA25	111003264|111003264	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.324000|7.324000	0.79115|0.79115	2.123000|2.123000	0.65237|0.65237	0.533000|0.533000	0.62120|0.62120	GAT|ATG		0.348	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953		49	147	0	0	0	1	0	49	147				
KDM2B	84678	broad.mit.edu	37	12	121882032	121882032	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr12:121882032C>T	ENST00000377071.4	-	16	2306	c.2234G>A	c.(2233-2235)gGc>gAc	p.G745D	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Missense_Mutation_p.G113D|KDM2B_ENST00000377069.4_Missense_Mutation_p.G714D	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	745					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GAGCAGGGAGCCGGGCAGGTT	0.577											OREG0022201	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000377069.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(2140-2142)gGc>gAc		lysine (K)-specific demethylase 2B							55.0	56.0	56.0					12																	121882032		2004	4165	6169	SO:0001583	missense	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121882032C>T	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.2234G>A	12.37:g.121882032C>T	ENSP00000366271:p.Gly745Asp		OREG0022201	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1514	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377071.4_Missense_Mutation_p.G745D|KDM2B_ENST00000542973.1_Missense_Mutation_p.G113D	p.G714D	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN			16	2547	-			745					A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	c.2141G>A	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	C	36	5.635875	0.96682	.	.	ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043;ENST00000261824	T;T;T	0.25579	2.08;2.46;1.79	5.95	5.95	0.96441	.	0.000000	0.52532	D	0.000061	T	0.45696	0.1355	L	0.55481	1.735	0.80722	D	1	D;D;P;D	0.89917	1.0;1.0;0.779;1.0	D;D;B;D	0.91635	0.998;0.999;0.197;0.999	T	0.12243	-1.0555	10	0.07644	T	0.81	-26.6101	20.3854	0.98941	0.0:1.0:0.0:0.0	.	185;745;714;188	B7ZB05;Q8NHM5;A8MRS1;B4DSN4	.;KDM2B_HUMAN;.;.	D	745;113;714;745;188;748	ENSP00000437821:G113D;ENSP00000366269:G714D;ENSP00000366271:G745D	ENSP00000261824:G748D	G	-	2	0	KDM2B	120366415	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.825000	0.97269	0.655000	0.94253	GGC		0.577	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		3	39	0	0	0	1	0	3	39				
PDGFRA	5156	broad.mit.edu	37	4	55141137	55141137	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr4:55141137C>T	ENST00000257290.5	+	12	2114	c.1783C>T	c.(1783-1785)Ctt>Ttt	p.L595F	FIP1L1_ENST00000507166.1_Missense_Mutation_p.L355F	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	595	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|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)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	TGGACTAGTGCTTGGTAAGTT	0.448			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5				Dom	yes		4	4q11-q13	5156	"""Mis, O, T"""	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""		0				NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(1783-1785)Ctt>Ttt		platelet-derived growth factor receptor, alpha polypeptide	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						85.0	84.0	85.0					4																	55141137		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55141137C>T	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1783C>T	4.37:g.55141137C>T	ENSP00000257290:p.Leu595Phe	TSP Lung(21;0.16)				FIP1L1_ENST00000507166.1_Missense_Mutation_p.L355F	p.L595F	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		12	2114	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		595			Protein kinase.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.1783C>T	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317496	0.81469	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	D;D	0.83914	-1.78;-1.78	6.03	6.03	0.97812	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.29501	U	0.011975	D	0.88265	0.6390	L	0.43598	1.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.83385	0.0014	10	0.20046	T	0.44	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	595;595	P16234-3;P16234	.;PGFRA_HUMAN	F	355;595	ENSP00000423325:L355F;ENSP00000257290:L595F	ENSP00000423325:L355F	L	+	1	0	FIP1L1;PDGFRA	54835894	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	3.983000	0.56916	2.861000	0.98227	0.655000	0.94253	CTT		0.448	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		15	44	0	0	0	1	0	15	44				
EPHB2	2048	broad.mit.edu	37	1	23111124	23111124	+	Silent	SNP	G	G	T			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr1:23111124G>T	ENST00000400191.3	+	3	384	c.366G>T	c.(364-366)tcG>tcT	p.S122S	EPHB2_ENST00000544305.1_Silent_p.S122S|EPHB2_ENST00000374632.3_Silent_p.S122S|EPHB2_ENST00000374630.3_Silent_p.S122S|EPHB2_ENST00000374627.1_Silent_p.S116S	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	122	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		ACTTTGACTCGGCCACCAAGA	0.572																																						ENST00000400191.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56						c.(364-366)tcG>tcT		EPH receptor B2							50.0	45.0	47.0					1																	23111124		2203	4300	6503	SO:0001819	synonymous_variant	2048				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23111124G>T	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.366G>T	1.37:g.23111124G>T						EPHB2_ENST00000544305.1_Silent_p.S122S|EPHB2_ENST00000374632.3_Silent_p.S122S|EPHB2_ENST00000374627.1_Silent_p.S116S|EPHB2_ENST00000374630.3_Silent_p.S122S	p.S122S	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	3	384	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)	122					O43477|Q5T0U6|Q5T0U7|Q5T0U8	Silent	SNP	ENST00000400191.3	37	c.366G>T																																																																																					0.572	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		10	16	1	0	2.17888e-05	1	2.3491e-05	10	16				
KRTAP10-9	386676	broad.mit.edu	37	21	46047205	46047205	+	Silent	SNP	G	G	A	rs368541625		TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr21:46047205G>A	ENST00000397911.3	+	1	166	c.117G>A	c.(115-117)ccG>ccA	p.P39P	KRTAP10-9_ENST00000484861.1_3'UTR|TSPEAR_ENST00000323084.4_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	39	25 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						GCTGCGCCCCGGCCCCCTGCC	0.687																																						ENST00000397911.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						c.(115-117)ccG>ccA		keratin associated protein 10-9		G	,	0,4348		0,0,2174	34.0	43.0	40.0		,117	-7.2	0.0	21		40	1,8541		0,1,4270	no	intron,coding-synonymous	TSPEAR,KRTAP10-9	NM_144991.2,NM_198690.2	,	0,1,6444	AA,AG,GG		0.0117,0.0,0.0078	,	,39/293	46047205	1,12889	2174	4271	6445	SO:0001819	synonymous_variant	386676					keratin filament		g.chr21:46047205G>A	AJ566386	CCDS42961.1	21q22.3	2007-10-05			ENSG00000221837	ENSG00000221837		"""Keratin associated proteins"""	22971	protein-coding gene	gene with protein product				KRTAP18-9			Standard	NM_198690		Approved	KAP10.9, KAP18.9	uc002zfp.4	P60411	OTTHUMG00000057637	ENST00000397911.3:c.117G>A	21.37:g.46047205G>A						KRTAP10-9_ENST00000484861.1_3'UTR|TSPEAR_ENST00000323084.4_Intron	p.P39P	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN			1	166	+			39			25 X 5 AA repeats of C-C-X(3).		A2RRG1|A6NIR9|Q70LJ1	Silent	SNP	ENST00000397911.3	37	c.117G>A	CCDS42961.1																																																																																				0.687	KRTAP10-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128040.1			13	45	0	0	0	1	0	13	45				
SARDH	1757	broad.mit.edu	37	9	136597691	136597691	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr9:136597691C>A	ENST00000371872.4	-	3	621	c.364G>T	c.(364-366)Gag>Tag	p.E122*	SARDH_ENST00000422262.2_5'UTR|SARDH_ENST00000298628.5_Nonsense_Mutation_p.E122*|SARDH_ENST00000439388.1_Nonsense_Mutation_p.E122*|SARDH_ENST00000371867.1_Nonsense_Mutation_p.E33*	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	122					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		AGCTCCACCTCCACGTCACTG	0.662																																						ENST00000371872.4																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44						c.(364-366)Gag>Tag		sarcosine dehydrogenase							59.0	59.0	59.0					9																	136597691		2203	4300	6503	SO:0001587	stop_gained	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136597691C>A		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.364G>T	9.37:g.136597691C>A	ENSP00000360938:p.Glu122*					SARDH_ENST00000298628.5_Nonsense_Mutation_p.E122*|SARDH_ENST00000371867.1_Nonsense_Mutation_p.E33*|SARDH_ENST00000422262.2_5'UTR|SARDH_ENST00000439388.1_Nonsense_Mutation_p.E122*	p.E122*	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	3	621	-			122					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Nonsense_Mutation	SNP	ENST00000371872.4	37	c.364G>T	CCDS6978.1	.	.	.	.	.	.	.	.	.	.	C	39	7.579485	0.98371	.	.	ENSG00000123453	ENST00000371872;ENST00000439388;ENST00000427237;ENST00000539227;ENST00000535281;ENST00000371867;ENST00000393050;ENST00000298628	.	.	.	4.32	4.32	0.51571	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-33.19	16.7821	0.85565	0.0:1.0:0.0:0.0	.	.	.	.	X	122;122;122;122;122;33;100;122	.	ENSP00000298628:E122X	E	-	1	0	SARDH	135587512	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.304000	0.78882	1.942000	0.56320	0.462000	0.41574	GAG		0.662	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			6	66	1	0	0.000673444	1	0.000693547	6	66				
TTN	7273	broad.mit.edu	37	2	179640923	179640923	+	Missense_Mutation	SNP	G	G	A	rs146496197	byFrequency	TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr2:179640923G>A	ENST00000591111.1	-	28	5892	c.5668C>T	c.(5668-5670)Cgc>Tgc	p.R1890C	TTN_ENST00000360870.5_Missense_Mutation_p.R1890C|TTN_ENST00000460472.2_Missense_Mutation_p.R1844C|TTN_ENST00000342175.6_Missense_Mutation_p.R1844C|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R1890C|TTN_ENST00000359218.5_Missense_Mutation_p.R1844C|TTN_ENST00000342992.6_Missense_Mutation_p.R1890C|RP11-88L24.4_ENST00000582038.2_RNA			Q8WZ42	TITIN_HUMAN	titin	12726	Ig-like 9.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R1844C(3)|p.R1890C(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCATCATAGCGAACTCTGAAC	0.498													G|||	3	0.000599042	0.0015	0.0014	5008	,	,		21337	0.0		0.0	False		,,,				2504	0.0					ENST00000589042.1																			5	Substitution - Missense(5)	p.R1844C(3)|p.R1890C(2)	skin(5)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(5668-5670)Cgc>Tgc		titin		G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	10,4396	16.8+/-37.8	0,10,2193	290.0	263.0	272.0		5530,5668,5668,5530,5530	5.1	1.0	2	dbSNP_134	272	4,8596	3.0+/-9.4	0,4,4296	yes	missense,missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	180,180,180,180,180	0,14,6489	AA,AG,GG		0.0465,0.227,0.1076	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1844/26927,1890/33424,1890/5605,1844/27052,1844/27119	179640923	14,12992	2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179640923G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.5668C>T	2.37:g.179640923G>A	ENSP00000465570:p.Arg1890Cys					TTN_ENST00000360870.5_Missense_Mutation_p.R1890C|TTN_ENST00000359218.5_Missense_Mutation_p.R1844C|TTN_ENST00000342992.6_Missense_Mutation_p.R1890C|TTN_ENST00000460472.2_Missense_Mutation_p.R1844C|TTN_ENST00000591111.1_Missense_Mutation_p.R1890C|TTN_ENST00000342175.6_Missense_Mutation_p.R1844C	p.R1890C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		28	5892	-			1605			Ig-like 9.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.5668C>T		.	.	.	.	.	.	.	.	.	.	G	11.01	1.512460	0.27123	0.00227	4.65E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33	5.1	5.1	0.69264	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.81465	0.4828	M	0.70842	2.15	0.41182	D	0.986243	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.74674	0.95;0.95;0.95;0.95;0.984	D	0.84082	0.0385	9	0.87932	D	0	.	18.5142	0.90930	0.0:0.0:1.0:0.0	.	1844;1844;1844;1890;1890	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	C	1890;1844;1844;1844;1844;1890	ENSP00000343764:R1890C;ENSP00000434586:R1844C;ENSP00000340554:R1844C;ENSP00000352154:R1844C;ENSP00000354117:R1890C	ENSP00000340554:R1844C	R	-	1	0	TTN	179349168	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.879000	0.87236	2.385000	0.81259	0.609000	0.83330	CGC		0.498	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		61	134	0	0	0	1	0	61	134				
RFTN1	23180	broad.mit.edu	37	3	16358450	16358450	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr3:16358450G>A	ENST00000334133.4	-	10	1894	c.1622C>T	c.(1621-1623)gCc>gTc	p.A541V	OXNAD1_ENST00000544043.1_Intron|RP11-415F23.2_ENST00000607464.1_RNA|RFTN1_ENST00000432519.1_Missense_Mutation_p.A505V|OXNAD1_ENST00000435829.2_Intron|OXNAD1_ENST00000605932.1_Intron|RFTN1_ENST00000483671.1_5'UTR|OXNAD1_ENST00000606098.1_Intron	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	541					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						GCTGTGGCTGGCAGGACCATT	0.622																																						ENST00000334133.4																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						c.(1621-1623)gCc>gTc		raftlin, lipid raft linker 1							97.0	95.0	95.0					3																	16358450		2203	4300	6503	SO:0001583	missense	23180					plasma membrane		g.chr3:16358450G>A	D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"""raft-linking protein"""					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.1622C>T	3.37:g.16358450G>A	ENSP00000334153:p.Ala541Val					RFTN1_ENST00000432519.1_Missense_Mutation_p.A505V|OXNAD1_ENST00000606098.1_Intron|OXNAD1_ENST00000605932.1_Intron|RFTN1_ENST00000483671.1_5'UTR|OXNAD1_ENST00000544043.1_Intron|OXNAD1_ENST00000435829.2_Intron	p.A541V	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN			10	1894	-			541					Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Missense_Mutation	SNP	ENST00000334133.4	37	c.1622C>T	CCDS33712.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.351808	0.61183	.	.	ENSG00000131378	ENST00000432519;ENST00000334133	T;T	0.37915	1.17;1.22	4.78	2.82	0.32997	.	0.617158	0.15070	N	0.282277	T	0.29976	0.0750	L	0.44542	1.39	0.19775	N	0.999959	P;P	0.40731	0.728;0.728	B;B	0.40901	0.343;0.23	T	0.16335	-1.0406	10	0.72032	D	0.01	-10.3005	6.4297	0.21790	0.1009:0.1832:0.7159:0.0	.	505;541	G3XAJ6;Q14699	.;RFTN1_HUMAN	V	505;541	ENSP00000403926:A505V;ENSP00000334153:A541V	ENSP00000334153:A541V	A	-	2	0	RFTN1	16333454	0.008000	0.16893	0.003000	0.11579	0.005000	0.04900	0.717000	0.25851	1.126000	0.42016	0.563000	0.77884	GCC		0.622	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	NM_015150		4	86	0	0	0	1	0	4	86				
TLK2	11011	broad.mit.edu	37	17	60601629	60601629	+	Silent	SNP	T	T	G			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr17:60601629T>G	ENST00000326270.9	+	6	568	c.300T>G	c.(298-300)ccT>ccG	p.P100P	TLK2_ENST00000346027.5_Silent_p.P100P|TLK2_ENST00000542523.1_Intron|TLK2_ENST00000343388.7_Intron|TLK2_ENST00000582809.1_5'UTR	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	100					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						GAACCAGCCCTGGCAGAAGTG	0.473																																						ENST00000326270.9																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						c.(298-300)ccT>ccG		tousled-like kinase 2							42.0	45.0	44.0					17																	60601629		2203	4300	6503	SO:0001819	synonymous_variant	11011				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:60601629T>G	AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.300T>G	17.37:g.60601629T>G						TLK2_ENST00000346027.5_Silent_p.P100P|TLK2_ENST00000542523.1_Intron|TLK2_ENST00000582809.1_5'UTR|TLK2_ENST00000343388.7_Intron	p.P100P			Q86UE8	TLK2_HUMAN			6	568	+			100					D3DU07|Q9UKI7|Q9Y4F7	Silent	SNP	ENST00000326270.9	37	c.300T>G																																																																																					0.473	TLK2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000445140.1	NM_006852		3	6	0	0	0	1	0	3	6				
SAMD7	344658	broad.mit.edu	37	3	169644361	169644361	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr3:169644361C>T	ENST00000428432.2	+	6	700	c.311C>T	c.(310-312)gCt>gTt	p.A104V	SAMD7_ENST00000335556.3_Missense_Mutation_p.A104V	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	104										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GAAATGTATGCTATTTACCAG	0.408																																						ENST00000428432.2																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(310-312)gCt>gTt		sterile alpha motif domain containing 7							41.0	44.0	43.0					3																	169644361		2203	4300	6503	SO:0001583	missense	344658							g.chr3:169644361C>T	BX537903	CCDS3209.1	3q26.31	2013-01-10			ENSG00000187033	ENSG00000187033		"""Sterile alpha motif (SAM) domain containing"""	25394	protein-coding gene	gene with protein product							Standard	NM_182610		Approved	DKFZp686E1583	uc003fgd.3	Q7Z3H4	OTTHUMG00000158730	ENST00000428432.2:c.311C>T	3.37:g.169644361C>T	ENSP00000391299:p.Ala104Val					SAMD7_ENST00000335556.3_Missense_Mutation_p.A104V	p.A104V	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)		6	700	+	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		104						Missense_Mutation	SNP	ENST00000428432.2	37	c.311C>T	CCDS3209.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.399828	0.83120	.	.	ENSG00000187033	ENST00000428432;ENST00000335556	T;T	0.56275	0.47;0.47	6.1	6.1	0.99115	.	0.165807	0.52532	D	0.000064	T	0.59183	0.2175	L	0.53249	1.67	0.42632	D	0.993381	D	0.65815	0.995	P	0.48304	0.573	T	0.57774	-0.7753	10	0.45353	T	0.12	-8.409	20.3097	0.98641	0.0:1.0:0.0:0.0	.	104	Q7Z3H4	SAMD7_HUMAN	V	104	ENSP00000391299:A104V;ENSP00000334668:A104V	ENSP00000334668:A104V	A	+	2	0	SAMD7	171127055	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.756000	0.68757	2.902000	0.99343	0.650000	0.86243	GCT		0.408	SAMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351959.1	NM_182610		4	44	0	0	0	1	0	4	44				
GSN	2934	broad.mit.edu	37	9	124094713	124094713	+	Splice_Site	SNP	T	T	A			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr9:124094713T>A	ENST00000373818.4	+	17	2250	c.2181T>A	c.(2179-2181)gcT>gcA	p.A727A	GSN_ENST00000436847.1_Splice_Site_p.A687A|GSN_ENST00000412819.1_Splice_Site_p.A676A|GSN_ENST00000394353.2_Splice_Site_p.A687A|GSN_ENST00000373806.1_Splice_Site_p.A152A|GSN_ENST00000341272.2_Splice_Site_p.A676A|GSN_ENST00000449733.1_Splice_Site_p.A676A|GSN_ENST00000545652.1_Splice_Site_p.A684A|GSN_ENST00000373823.3_Splice_Site_p.A676A|GSN_ENST00000373808.2_Splice_Site_p.A676A	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	727	Actin-binding, Ca-sensitive. {ECO:0000255}.				actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						TGTCTGCAGCTAAGCGGTACA	0.577											OREG0019445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000373823.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						c.e25-1		gelsolin							138.0	124.0	129.0					9																	124094713		2203	4300	6503	SO:0001630	splice_region_variant	2934				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding	g.chr9:124094713T>A	X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"""amyloidosis, Finnish type"""	137350	"""gelsolin (amyloidosis, Finnish type)"""			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.2180-1T>A	9.37:g.124094713T>A			OREG0019445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1531	GSN_ENST00000436847.1_Splice_Site_p.A687_splice|GSN_ENST00000449733.1_Splice_Site_p.A676_splice|GSN_ENST00000394353.2_Splice_Site_p.A687_splice|GSN_ENST00000341272.2_Splice_Site_p.A676_splice|GSN_ENST00000545652.1_Splice_Site_p.A684_splice|GSN_ENST00000412819.1_Splice_Site_p.A676_splice|GSN_ENST00000373818.4_Splice_Site_p.A727_splice|GSN_ENST00000373808.2_Splice_Site_p.A676_splice|GSN_ENST00000373806.1_Splice_Site_p.A152_splice	p.A676_splice			P06396	GELS_HUMAN			25	2933	+			727			Actin-binding, Ca-sensitive (Potential).		A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Splice_Site	SNP	ENST00000373818.4	37	c.2026_splice	CCDS6828.1																																																																																				0.577	GSN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053861.1	NM_000177	Silent	16	31	0	0	0	1	0	16	31				
CACNA1B	774	broad.mit.edu	37	9	140943691	140943691	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr9:140943691G>A	ENST00000371372.1	+	24	3779	c.3634G>A	c.(3634-3636)Gga>Aga	p.G1212R	CACNA1B_ENST00000371363.1_Missense_Mutation_p.G1212R|CACNA1B_ENST00000371355.4_Missense_Mutation_p.G1213R|CACNA1B_ENST00000545473.1_3'UTR|CACNA1B_ENST00000277549.5_Missense_Mutation_p.G404R|CACNA1B_ENST00000277551.2_Missense_Mutation_p.G1212R|CACNA1B_ENST00000371357.1_Missense_Mutation_p.G1213R	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1212					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	GCTTCACCCTGGAGCCTATTT	0.532																																						ENST00000277549.5																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(1210-1212)Gga>Aga		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						168.0	169.0	169.0					9																	140943691		2060	4197	6257	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140943691G>A	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.3634G>A	9.37:g.140943691G>A	ENSP00000360423:p.Gly1212Arg					CACNA1B_ENST00000371357.1_Missense_Mutation_p.G1213R|CACNA1B_ENST00000371372.1_Missense_Mutation_p.G1212R|CACNA1B_ENST00000277551.2_Missense_Mutation_p.G1212R|CACNA1B_ENST00000545473.1_3'UTR|CACNA1B_ENST00000371355.4_Missense_Mutation_p.G1213R|CACNA1B_ENST00000371363.1_Missense_Mutation_p.G1212R	p.G404R			Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	24	3779	+	all_cancers(76;0.166)		1212					B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.1210G>A	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.667917	0.88348	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D;D	0.98280	-4.84;-4.84;-4.84;-4.84;-4.84;-4.84	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.98776	0.9588	M	0.72353	2.195	0.80722	D	1	D;D;D	0.89917	0.979;1.0;1.0	D;D;D	0.91635	0.943;0.999;0.999	D	0.99897	1.1149	10	0.87932	D	0	.	18.1658	0.89724	0.0:0.0:1.0:0.0	.	1212;1213;1212	B1AQK4;B1AQK7;B1AQK6	.;.;.	R	1212;1212;404;1212;1213;1213	ENSP00000360423:G1212R;ENSP00000277551:G1212R;ENSP00000277549:G404R;ENSP00000360414:G1212R;ENSP00000360408:G1213R;ENSP00000360406:G1213R	ENSP00000277549:G404R	G	+	1	0	CACNA1B	140063512	1.000000	0.71417	0.998000	0.56505	0.823000	0.46562	9.711000	0.98735	2.386000	0.81285	0.491000	0.48974	GGA		0.532	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		3	44	0	0	0	1	0	3	44				
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		1582	Substitution - Missense(1582)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(3139-3141)cAt>cGt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							99.0	89.0	92.0					3																	178952085		1912	4130	6042	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952085A>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.H1047R	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3297	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1047		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3140A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			14	29	0	0	0	1	0	14	29				
LRRC15	131578	broad.mit.edu	37	3	194080647	194080647	+	Missense_Mutation	SNP	G	G	A	rs530171790		TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr3:194080647G>A	ENST00000347624.3	-	2	1211	c.1126C>T	c.(1126-1128)Cgc>Tgc	p.R376C	LRRC15_ENST00000439944.2_Missense_Mutation_p.R382C|LRRC15_ENST00000428839.1_Missense_Mutation_p.R382C	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	376					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)			biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		TGTCTGAGGCGGTTGTTCTGC	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		20433	0.001		0.0	False		,,,				2504	0.0					ENST00000347624.3																			0				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1126-1128)Cgc>Tgc		leucine rich repeat containing 15							61.0	59.0	60.0					3																	194080647		2203	4300	6503	SO:0001583	missense	131578					integral to membrane		g.chr3:194080647G>A	AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.1126C>T	3.37:g.194080647G>A	ENSP00000306276:p.Arg376Cys					LRRC15_ENST00000428839.1_Missense_Mutation_p.R382C|LRRC15_ENST00000439944.2_Missense_Mutation_p.R382C	p.R376C	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)	2	1211	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		376					Q495Q6|Q7RTN7	Missense_Mutation	SNP	ENST00000347624.3	37	c.1126C>T	CCDS3306.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.384715	0.61845	.	.	ENSG00000172061	ENST00000347624;ENST00000439944;ENST00000428839	T;T;T	0.60672	0.17;0.17;0.17	5.01	4.07	0.47477	.	0.605862	0.15985	N	0.235129	T	0.67277	0.2876	M	0.67700	2.07	0.50632	D	0.999882	D;D	0.67145	0.996;0.987	P;P	0.57283	0.817;0.629	T	0.64241	-0.6454	10	0.33141	T	0.24	.	12.4989	0.55944	0.0:0.0:0.7088:0.2912	.	376;382	Q8TF66;Q8TF66-2	LRC15_HUMAN;.	C	376;382;382	ENSP00000306276:R376C;ENSP00000389128:R382C;ENSP00000413707:R382C	ENSP00000306276:R376C	R	-	1	0	LRRC15	195561942	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.587000	0.46128	2.500000	0.84329	0.655000	0.94253	CGC		0.587	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342858.2			11	30	0	0	0	1	0	11	30				
TLR4	7099	broad.mit.edu	37	9	120475154	120475154	+	Silent	SNP	C	C	T			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr9:120475154C>T	ENST00000355622.6	+	3	849	c.748C>T	c.(748-750)Ctg>Ttg	p.L250L	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.L210L	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	250					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|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 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)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	TATTCAAGGTCTGGCTGGTTT	0.348																																						ENST00000355622.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						c.(748-750)Ctg>Ttg		toll-like receptor 4							68.0	75.0	72.0					9																	120475154		2191	4296	6487	SO:0001819	synonymous_variant	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120475154C>T	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.748C>T	9.37:g.120475154C>T						TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.L210L	p.L250L	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN			3	849	+			250					A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Silent	SNP	ENST00000355622.6	37	c.748C>T	CCDS6818.1																																																																																				0.348	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		20	52	0	0	0	1	0	20	52				
KRTAP10-6	386674	broad.mit.edu	37	21	46011562	46011562	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr21:46011562G>C	ENST00000400368.1	-	1	824	c.804C>G	c.(802-804)caC>caG	p.H268Q	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	268	29 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.H268Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						CACAGCAGGCGTGCTGGCAGG	0.642																																						ENST00000400368.1																			1	Substitution - Missense(1)	p.H268Q(1)	lung(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						c.(802-804)caC>caG		keratin associated protein 10-6							114.0	116.0	116.0					21																	46011562		2203	4300	6503	SO:0001583	missense	386674					keratin filament		g.chr21:46011562G>C	AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"""Keratin associated proteins"""	20523	protein-coding gene	gene with protein product			"""keratin associated protein 18-6"""	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.804C>G	21.37:g.46011562G>C	ENSP00000383219:p.His268Gln					TSPEAR_ENST00000323084.4_Intron	p.H268Q	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN			1	824	-			268			29 X 5 AA repeats of C-C-X(3).			Missense_Mutation	SNP	ENST00000400368.1	37	c.804C>G	CCDS42959.1	.	.	.	.	.	.	.	.	.	.	g	0.001	-3.152357	0.00028	.	.	ENSG00000188155	ENST00000400368	T	0.00695	5.83	1.71	-3.41	0.04839	.	.	.	.	.	T	0.00210	0.0006	N	0.00029	-2.625	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.52094	-0.8621	9	0.45353	T	0.12	.	2.3081	0.04179	0.1478:0.4281:0.2702:0.1539	.	268	P60371	KR106_HUMAN	Q	268	ENSP00000383219:H268Q	ENSP00000383219:H268Q	H	-	3	2	KRTAP10-6	44835990	0.000000	0.05858	0.017000	0.16124	0.069000	0.16628	-8.207000	0.00023	-3.236000	0.00208	-2.876000	0.00098	CAC		0.642	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128037.1	NM_198688		4	106	0	0	0	1	0	4	106				
OR2A14	135941	broad.mit.edu	37	7	143826862	143826862	+	Silent	SNP	C	C	T			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr7:143826862C>T	ENST00000408899.2	+	1	712	c.657C>T	c.(655-657)cgC>cgT	p.R219R		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	219						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					CCTACTTGCGCATCCTGGCCG	0.612																																						ENST00000408899.2																			0				large_intestine(4)|lung(17)|skin(1)	22						c.(655-657)cgC>cgT		olfactory receptor, family 2, subfamily A, member 14							121.0	126.0	124.0					7																	143826862		2066	4206	6272	SO:0001819	synonymous_variant	135941				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143826862C>T		CCDS43672.1	7q35	2013-09-20		2004-03-08	ENSG00000221938	ENSG00000221938		"""GPCR / Class A : Olfactory receptors"""	15084	protein-coding gene	gene with protein product				OR2A14P, OR2A6			Standard	NM_001001659		Approved	OST182	uc011kua.2	Q96R47	OTTHUMG00000158003	ENST00000408899.2:c.657C>T	7.37:g.143826862C>T							p.R219R	NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN			1	712	+	Melanoma(164;0.0783)		219					Q6IF41|Q8NGT8	Silent	SNP	ENST00000408899.2	37	c.657C>T	CCDS43672.1																																																																																				0.612	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349980.1			6	169	0	0	0	1	0	6	169				
HECTD1	25831	broad.mit.edu	37	14	31576284	31576284	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr14:31576284G>C	ENST00000399332.1	-	38	7282	c.6794C>G	c.(6793-6795)cCt>cGt	p.P2265R	HECTD1_ENST00000553700.1_Missense_Mutation_p.P2265R	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2265	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TTTAGAAATAGGTAAGTCCAC	0.358																																						ENST00000399332.1																			0				breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70						c.(6793-6795)cCt>cGt		HECT domain containing E3 ubiquitin protein ligase 1							111.0	106.0	108.0					14																	31576284		1865	4096	5961	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31576284G>C	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.6794C>G	14.37:g.31576284G>C	ENSP00000382269:p.Pro2265Arg					HECTD1_ENST00000553700.1_Missense_Mutation_p.P2265R	p.P2265R	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	38	7282	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		2265			HECT.		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.6794C>G	CCDS41939.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.1|21.1	4.090660|4.090660	0.76756|0.76756	.|.	.|.	ENSG00000092148|ENSG00000092148	ENST00000554882|ENST00000553700;ENST00000261312;ENST00000399332	.|T;T	.|0.58652	.|0.32;0.32	6.06|6.06	6.06|6.06	0.98353|0.98353	.|HECT (4);	.|0.162796	.|0.41938	.|U	.|0.000798	T|T	0.76652|0.76652	0.4017|0.4017	M|M	0.70903|0.70903	2.155|2.155	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.85130	.|0.997	T|T	0.76225|0.76225	-0.3037|-0.3037	5|10	.|0.59425	.|D	.|0.04	-10.5233|-10.5233	18.8088|18.8088	0.92050|0.92050	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|2265	.|Q9ULT8	.|HECD1_HUMAN	V|R	631|2265;2267;2265	.|ENSP00000450697:P2265R;ENSP00000382269:P2265R	.|ENSP00000261312:P2267R	L|P	-|-	1|2	2|0	HECTD1|HECTD1	30646035|30646035	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.471000|9.471000	0.97696|0.97696	2.871000|2.871000	0.98454|0.98454	0.655000|0.655000	0.94253|0.94253	CTA|CCT		0.358	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			26	74	0	0	0	1	0	26	74				
PDCD2	5134	broad.mit.edu	37	6	170893398	170893398	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr6:170893398G>A	ENST00000541970.1	-	1	350	c.272C>T	c.(271-273)gCc>gTc	p.A91V	PDCD2_ENST00000542896.1_Missense_Mutation_p.A91V|PDCD2_ENST00000453163.2_Missense_Mutation_p.A91V|PDCD2_ENST00000392090.2_Missense_Mutation_p.A58V|PDCD2_ENST00000443345.2_Missense_Mutation_p.A58V|PDCD2_ENST00000537445.1_Missense_Mutation_p.A58V	NM_001199462.1|NM_002598.3	NP_001186391.1|NP_002589.2	Q16342	PDCD2_HUMAN	programmed cell death 2	91					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(1)|lung(5)	9		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|BRCA - Breast invasive adenocarcinoma(81;4.82e-06)|GBM - Glioblastoma multiforme(31;0.142)		TCGCAGGCCGGCACAGCACGG	0.711																																					Colon(60;1476 1726 39478)	ENST00000541970.1																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(5)	9						c.(271-273)gCc>gTc		programmed cell death 2							13.0	14.0	14.0					6																	170893398		1701	3603	5304	SO:0001583	missense	5134				apoptosis	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:170893398G>A	AJ420535	CCDS5316.1, CCDS47521.1, CCDS56460.1, CCDS56461.1, CCDS56462.1, CCDS75557.1	6q27	2008-02-05			ENSG00000071994	ENSG00000071994		"""Zinc fingers, MYND-type"""	8762	protein-coding gene	gene with protein product		600866				7606924	Standard	NM_002598		Approved	ZMYND7, RP8	uc003qxw.3	Q16342	OTTHUMG00000016083	ENST00000541970.1:c.272C>T	6.37:g.170893398G>A	ENSP00000439467:p.Ala91Val					PDCD2_ENST00000453163.2_Missense_Mutation_p.A91V|PDCD2_ENST00000542896.1_Missense_Mutation_p.A91V|PDCD2_ENST00000537445.1_Missense_Mutation_p.A58V|PDCD2_ENST00000392090.2_Missense_Mutation_p.A58V|PDCD2_ENST00000443345.2_Missense_Mutation_p.A58V	p.A91V	NM_001199462.1|NM_002598.3	NP_001186391.1|NP_002589.2	Q16342	PDCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|BRCA - Breast invasive adenocarcinoma(81;4.82e-06)|GBM - Glioblastoma multiforme(31;0.142)	1	350	-		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	91					E9PCU7|F5GYS7|Q58HM9|Q58HN0|Q9UH12	Missense_Mutation	SNP	ENST00000541970.1	37	c.272C>T	CCDS5316.1	.	.	.	.	.	.	.	.	.	.	.	31	5.083931	0.94100	.	.	ENSG00000071994	ENST00000541970;ENST00000392090;ENST00000542896;ENST00000453163;ENST00000537445;ENST00000443345	T;T;T	0.32023	1.47;1.47;1.47	4.15	3.25	0.37280	.	0.622028	0.17238	N	0.181663	T	0.11324	0.0276	L	0.41961	1.31	0.35793	D	0.822535	B;B;B;B;B;B	0.14012	0.007;0.009;0.007;0.002;0.0;0.001	B;B;B;B;B;B	0.12156	0.007;0.004;0.003;0.003;0.002;0.002	T	0.06232	-1.0838	9	.	.	.	-24.5275	10.9946	0.47569	0.0:0.1902:0.8098:0.0	.	58;91;58;91;91;58	F5GYS7;E9PCU7;Q58HM9;F5H4V9;Q16342;Q58HN0	.;.;.;.;PDCD2_HUMAN;.	V	91;58;91;91;58;58	ENSP00000439467:A91V;ENSP00000439914:A91V;ENSP00000402524:A91V	.	A	-	2	0	PDCD2	170735323	1.000000	0.71417	0.933000	0.37362	0.978000	0.69477	3.072000	0.50049	0.915000	0.36847	0.655000	0.94253	GCC		0.711	PDCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043269.2	NM_002598		3	47	0	0	0	1	0	3	47				
FMN2	56776	broad.mit.edu	37	1	240370979	240370979	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr1:240370979C>T	ENST00000319653.9	+	5	3097	c.2867C>T	c.(2866-2868)cCg>cTg	p.P956L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	956	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.P1099L(2)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ATACCCCCTCCGCCCCCTCTT	0.697																																						ENST00000319653.9																			2	Substitution - Missense(2)	p.P1099L(2)	endometrium(2)	NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(2866-2868)cCg>cTg		formin 2							21.0	24.0	23.0					1																	240370979		2203	4297	6500	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240370979C>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2867C>T	1.37:g.240370979C>T	ENSP00000318884:p.Pro956Leu						p.P956L	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3097	+	Ovarian(103;0.127)	all_cancers(173;0.013)	956			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.2867C>T	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	C	9.304	1.053750	0.19907	.	.	ENSG00000155816	ENST00000319653	T	0.65549	-0.16	3.8	2.84	0.33178	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (1);	.	.	.	.	T	0.65821	0.2728	M	0.90483	3.12	0.58432	D	0.999997	D	0.53745	0.962	B	0.42625	0.393	T	0.70103	-0.4964	8	.	.	.	.	7.8822	0.29629	0.1822:0.6411:0.1768:0.0	.	956	Q9NZ56	FMN2_HUMAN	L	956	ENSP00000318884:P956L	.	P	+	2	0	FMN2	238437602	0.020000	0.18652	0.004000	0.12327	0.007000	0.05969	2.977000	0.49297	0.928000	0.37168	0.472000	0.43445	CCG		0.697	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		15	26	0	0	0	1	0	15	26				
SIRPB1	10326	broad.mit.edu	37	20	1585397	1585397	+	Intron	SNP	T	T	C	rs148754551	byFrequency	TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr20:1585397T>C	ENST00000381605.4	-	1	141				SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|SIRPB1_ENST00000381596.1_5'Flank|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000279477.7_Missense_Mutation_p.T248A|RP4-576H24.4_ENST00000564763.1_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1						cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.T248A(5)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CCTCGGATGGTCTCAGACAAG	0.627													t|||	2569	0.512979	0.6967	0.33	5008	,	,		3683	0.4435		0.4473	False		,,,				2504	0.5337					ENST00000279477.7																			5	Substitution - Missense(5)	p.T248A(5)	kidney(3)|prostate(2)	central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.(742-744)Acc>Gcc		signal-regulatory protein beta 1							20.0	30.0	27.0					20																	1585397		375	895	1270	SO:0001627	intron_variant	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1585397T>C	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.76+15117A>G	20.37:g.1585397T>C						SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|SIRPB1_ENST00000381605.4_Intron	p.T248A	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN			3	806	-			248					A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	c.742A>G	CCDS13019.1	757	0.3466117216117216	239	0.48577235772357724	97	0.26795580110497236	219	0.38286713286713286	202	0.26649076517150394	.	0.464	-0.887787	0.02511	.	.	ENSG00000101307	ENST00000279477	T	0.11930	2.73	2.24	-0.597	0.11653	.	.	.	.	.	T	0.00012	0.0000	N	0.20530	0.585	0.47778	P	4.809999999999537E-4	B	0.02656	0.0	B	0.06405	0.002	T	0.45483	-0.9258	8	0.13470	T	0.59	.	3.263	0.06855	0.2055:0.1485:0.0:0.646	.	248	Q5TFQ8	SIRBL_HUMAN	A	248	ENSP00000279477:T248A	ENSP00000279477:T248A	T	-	1	0	SIRPB1	1533397	0.001000	0.12720	0.631000	0.29282	0.161000	0.22273	-0.285000	0.08410	-0.814000	0.04352	-1.120000	0.02017	ACC		0.627	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		5	35	0	0	0	1	0	5	35				
CREB3L1	90993	broad.mit.edu	37	11	46333948	46333948	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr11:46333948C>A	ENST00000529193.1	+	6	1277	c.826C>A	c.(826-828)Ccc>Acc	p.P276T	CREB3L1_ENST00000288400.3_Missense_Mutation_p.P276T			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	276					regulation of bone mineralization (GO:0030500)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		TGAGGGCTACCCCATCCCCAC	0.547			T	FUS	myxofibrosarcoma																																Pancreas(3;159 194 19597 26278 47995)	ENST00000529193.1				Dom	yes		11	11p11.2	90993	T	cAMP responsive element binding protein 3-like 1			M	FUS		myxofibrosarcoma	FUS/CREB3L1(6)	0				NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12						c.(826-828)Ccc>Acc		cAMP responsive element binding protein 3-like 1							37.0	41.0	40.0					11																	46333948		2156	4282	6438	SO:0001583	missense	90993				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:46333948C>A		CCDS53620.1	11q11	2013-01-10				ENSG00000157613		"""basic leucine zipper proteins"""	18856	protein-coding gene	gene with protein product	"""BBF-2 homolog (drosophila)"""						Standard	NM_052854		Approved	OASIS	uc021qil.1	Q96BA8		ENST00000529193.1:c.826C>A	11.37:g.46333948C>A	ENSP00000434939:p.Pro276Thr					CREB3L1_ENST00000288400.3_Missense_Mutation_p.P276T	p.P276T			Q96BA8	CR3L1_HUMAN		GBM - Glioblastoma multiforme(35;0.0285)	6	1277	+			276					Q8N2D5|Q96CP0	Missense_Mutation	SNP	ENST00000529193.1	37	c.826C>A	CCDS53620.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.535807	0.45176	.	.	ENSG00000157613	ENST00000529193;ENST00000288400;ENST00000446415;ENST00000530518	T;T;T	0.75821	-0.97;-0.97;-0.97	4.59	4.59	0.56863	Eukaryotic transcription factor, Skn-1-like, DNA-binding (1);	0.114427	0.64402	D	0.000009	D	0.82300	0.5007	M	0.68593	2.085	0.80722	D	1	D	0.69078	0.997	P	0.60789	0.879	T	0.79794	-0.1653	10	0.23891	T	0.37	0.1743	17.5884	0.87989	0.0:1.0:0.0:0.0	.	276	Q96BA8	CR3L1_HUMAN	T	276;276;188;36	ENSP00000434939:P276T;ENSP00000288400:P276T;ENSP00000436574:P36T	ENSP00000288400:P276T	P	+	1	0	CREB3L1	46290524	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.392000	0.81423	0.563000	0.77884	CCC		0.547	CREB3L1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389702.1	NM_052854		4	22	1	0	0.00024832	1	0.000263601	4	22				
BAGE2	85319	broad.mit.edu	37	21	11097573	11097573	+	RNA	SNP	C	C	T	rs534797997	byFrequency	TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr21:11097573C>T	ENST00000470054.1	-	0	296							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		aggctccaacctccagctcac	0.542													N|||	4	0.000798722	0.0	0.0043	5008	,	,		47721	0.0		0.001	False		,,,				2504	0.0					ENST00000470054.1																			0													B melanoma antigen family, member 2							57.0	74.0	68.0					21																	11097573		1412	2555	3967			85319							g.chr21:11097573C>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11097573C>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	296	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.542	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	39	0	0	0	1	0	4	39				
SSPO	23145	broad.mit.edu	37	7	149522071	149522071	+	RNA	SNP	C	C	A			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr7:149522071C>A	ENST00000378016.2	+	0	13858							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)			CCAGTGGAGTCTGTGGGGGCC	0.652																																						ENST00000378016.2																			0													SCO-spondin							11.0	14.0	13.0					7																	149522071		2008	4157	6165			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149522071C>A	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.149522071C>A										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	13858	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.652	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				2	1	1	0	0.0016	1	0.00162353	2	1				
TRPM4	54795	broad.mit.edu	37	19	49692202	49692202	+	Splice_Site	SNP	G	G	C			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr19:49692202G>C	ENST00000252826.5	+	14	1999		c.e14-1		TRPM4_ENST00000427978.2_Splice_Site|TRPM4_ENST00000355712.5_Splice_Site	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4						calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CTCTGCCCCAGACCTCTTTGG	0.607																																						ENST00000252826.5																			0				breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49						c.e14-1		transient receptor potential cation channel, subfamily M, member 4							129.0	138.0	135.0					19																	49692202		2203	4300	6503	SO:0001630	splice_region_variant	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49692202G>C	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.1874-1G>C	19.37:g.49692202G>C						TRPM4_ENST00000355712.5_Splice_Site|TRPM4_ENST00000427978.2_Splice_Site		NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	14	1999	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)						A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Splice_Site	SNP	ENST00000252826.5	37		CCDS33073.1	.	.	.	.	.	.	.	.	.	.	.	11.65	1.701587	0.30142	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	.	.	.	4.32	4.32	0.51571	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.038	0.80645	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TRPM4	54384014	1.000000	0.71417	0.999000	0.59377	0.038000	0.13279	8.285000	0.89914	2.156000	0.67533	0.455000	0.32223	.		0.607	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636	Intron	45	131	0	0	0	1	0	45	131				
SLC9A8	23315	broad.mit.edu	37	20	48479505	48479505	+	Silent	SNP	C	C	G	rs367591345		TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr20:48479505C>G	ENST00000361573.2	+	9	795	c.753C>G	c.(751-753)gtC>gtG	p.V251V	SLC9A8_ENST00000417961.1_Silent_p.V267V|SLC9A8_ENST00000539601.1_Silent_p.V32V|SLC9A8_ENST00000541138.1_Intron			Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	251					ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TGTCAGATGTCAGTGGGTGGC	0.358																																						ENST00000417961.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(799-801)gtC>gtG		solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8		C		0,4406		0,0,2203	87.0	84.0	85.0		753	5.3	1.0	20		85	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC9A8	NM_015266.1		0,1,6502	GG,GC,CC		0.0116,0.0,0.0077		251/582	48479505	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23315					Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr20:48479505C>G	AB023156	CCDS13421.1, CCDS58774.1	20q13.13	2013-05-22	2012-03-22		ENSG00000197818	ENSG00000197818		"""Solute carriers"""	20728	protein-coding gene	gene with protein product		612730	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 8"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 8"""			12409279	Standard	NM_001260491		Approved	KIAA0939, NHE8	uc002xuv.2	Q9Y2E8	OTTHUMG00000032710	ENST00000361573.2:c.753C>G	20.37:g.48479505C>G						SLC9A8_ENST00000361573.2_Silent_p.V251V|SLC9A8_ENST00000539601.1_Silent_p.V32V|SLC9A8_ENST00000541138.1_Intron	p.V267V	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	BRCA - Breast invasive adenocarcinoma(9;3.91e-07)		9	1011	+			251					B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507	Silent	SNP	ENST00000361573.2	37	c.801C>G	CCDS13421.1																																																																																				0.358	SLC9A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106483.3	XM_030524		20	55	0	0	0	1	0	20	55				
XIRP2	129446	broad.mit.edu	37	2	168105160	168105160	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr2:168105160C>A	ENST00000409195.1	+	9	7347	c.7258C>A	c.(7258-7260)Cca>Aca	p.P2420T	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.P2420T|XIRP2_ENST00000409273.1_Missense_Mutation_p.P2198T|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2245					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CGGTGTGTTGCCACCTCCCAC	0.423																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(7258-7260)Cca>Aca		xin actin-binding repeat containing 2							75.0	78.0	77.0					2																	168105160		1844	4089	5933	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168105160C>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.7258C>A	2.37:g.168105160C>A	ENSP00000386840:p.Pro2420Thr					XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P2198T|XIRP2_ENST00000295237.9_Missense_Mutation_p.P2420T|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron	p.P2420T	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	7347	+			2245					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.7258C>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.386010	0.25031	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02709	4.19;4.19;4.19	5.15	3.37	0.38596	.	0.592551	0.17825	N	0.160733	T	0.08980	0.0222	M	0.67953	2.075	0.37048	D	0.897446	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	T	0.43081	-0.9413	10	0.10377	T	0.69	-13.8675	6.3109	0.21164	0.3255:0.59:0.0:0.0845	.	2245;2245;2198	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	T	2420;2420;2198	ENSP00000386840:P2420T;ENSP00000295237:P2420T;ENSP00000387255:P2198T	ENSP00000295237:P2420T	P	+	1	0	XIRP2	167813406	0.995000	0.38212	0.761000	0.31378	0.497000	0.33675	1.858000	0.39408	0.768000	0.33290	-0.127000	0.14921	CCA		0.423	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		13	43	1	0	9.31168e-06	1	1.01985e-05	13	43				
YTHDC1	91746	broad.mit.edu	37	4	69203566	69203566	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr4:69203566delC	ENST00000344157.4	-	3	518	c.183delG	c.(181-183)aagfs	p.K61fs	YTHDC1_ENST00000355665.3_Frame_Shift_Del_p.K61fs|YTHDC1_ENST00000579690.1_Frame_Shift_Del_p.K61fs	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	61					mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						GGACAGAAGGCTTTTGTCGTT	0.328																																						ENST00000344157.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(181-183)aafs		YTH domain containing 1							117.0	114.0	115.0					4																	69203566		2203	4300	6503	SO:0001589	frameshift_variant	91746							g.chr4:69203566delC	AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.183delG	4.37:g.69203566delC	ENSP00000339245:p.Lys61fs					YTHDC1_ENST00000355665.3_Frame_Shift_Del_p.K61fs|YTHDC1_ENST00000579690.1_Frame_Shift_Del_p.K61fs	p.K61fs	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN			3	518	-			61					Q4W5Q3|Q7Z622|Q8TF35	Frame_Shift_Del	DEL	ENST00000344157.4	37	c.183delG	CCDS33992.1																																																																																				0.328	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	NM_133370		18	39						18	39	---	---	---	---
FAM92A1P2	403315	broad.mit.edu	37	4	183959378	183959379	+	RNA	INS	-	-	A			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr4:183959378_183959379insA	ENST00000502308.1	+	0	561_562					NR_003612.1				family with sequence similarity 92, member A1 pseudogene 2																		TTTCGACCTTTAAAAAAAACGT	0.475																																						ENST00000502308.1																			0																																																			0							g.chr4:183959378_183959379insA	BC022019		4q35.1	2012-04-19	2012-04-19	2012-04-19	ENSG00000230219	ENSG00000230219			32287	pseudogene	pseudogene			"""family with sequence similarity 92, member A3"""	FAM92A3		12477932	Standard	NR_003612		Approved	MGC71735, MGC102964	uc003ivi.4		OTTHUMG00000160675		4.37:g.183959386_183959386dupA								NR_003612.1						0	561_562	+									RNA	INS	ENST00000502308.1	37																																																																																						0.475	FAM92A1P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361814.1			3	3						3	3	---	---	---	---
RBM19	9904	broad.mit.edu	37	12	114358497	114358498	+	Splice_Site	INS	-	-	GA			TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chr12:114358497_114358498insGA	ENST00000545145.2	-	19	2384		c.e19-2		RBM19_ENST00000392561.3_Splice_Site|RBM19_ENST00000261741.5_Splice_Site	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19						multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GGAGCACTCCTGAGAGAGAGAG	0.545																																						ENST00000545145.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55						c.e19-2		RNA binding motif protein 19																																				SO:0001630	splice_region_variant	9904				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	g.chr12:114358497_114358498insGA	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"""RNA binding motif (RRM) containing"""	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.2306-2->TC	12.37:g.114358506_114358507dupGA						RBM19_ENST00000392561.3_Splice_Site|RBM19_ENST00000261741.5_Splice_Site		NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN			19	2384	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)							A8K5X9|Q9BPY6|Q9UFN5	Splice_Site	INS	ENST00000545145.2	37		CCDS9172.1																																																																																				0.545	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196	Intron	17	196						17	196	---	---	---	---
GAGE2D	729408	broad.mit.edu	37	X	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT	rs372553636		TCGA-HC-A9TH-01A-11D-A41K-08	TCGA-HC-A9TH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3512f7-1306-483f-a744-ffefce67c8d2	8fae14ec-5bd1-4057-a5f4-a7ce7e45e5f3	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(25-27)tat>TATtat	p.9_9Y>YY		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1	Q9UEU5	GGE2D_HUMAN	G antigen 2D	9					cellular defense response (GO:0006968)												GAAGATCGACCTATCGGCCTAG	0.465														477	0.126358	0.031	0.098	3775	,	,		26951	0.0972		0.1441	False		,,,				2504	0.1278					ENST00000404720.2																			0											c.(22-27)acatcg>acTATatcg		G antigen 2D				10,505,1500		1,1,3,4,46,330,82,490,187						-1.1	0.0			8	27,1244,2482		1,3,16,6,128,539,446,675,577	no	codingComplex	GAGE2D	NM_001098407.1		2,4,19,10,174,869,528,1165,764	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		33.8662,25.5583,30.9639				37,1749,3982				SO:0001652	inframe_insertion	729408							g.chrX:49208295_49208296insTAT			Xp11.23	2012-10-02			ENSG00000240257				31959	protein-coding gene	gene with protein product		300735					Standard	NM_001098407		Approved	GAGE8		Q9UEU5	OTTHUMG00000067393	ENST00000404720.2:c.25_27dupTAT	X.37:g.49208296_49208298dupTAT	ENSP00000386110:p.Tyr9dup						p.8_9TS>TIS	NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1					2	96_97	+								A6NG46|A6NNR8|B7ZL76|Q4V325	In_Frame_Ins	INS	ENST00000404720.2	37	c.24_25insTAT	CCDS43941.1																																																																																				0.465	GAGE2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144212.1	NM_001098407		3	3						3	3	---	---	---	---
