#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
PCDHB14	56122	broad.mit.edu	37	5	140604627	140604627	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr5:140604627G>C	ENST00000239449.4	+	1	1550	c.1550G>C	c.(1549-1551)aGg>aCg	p.R517T	PCDHB14_ENST00000515856.2_Missense_Mutation_p.R364T	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	517	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTGCCCTCAGGTCGCTGGAC	0.682																																					Ovarian(141;50 1831 27899 33809 37648)	ENST00000239449.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49						c.(1549-1551)aGg>aCg									94.0	99.0	97.0					5																	140604627		2203	4300	6503	SO:0001583	missense	56122				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140604627G>C	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1550G>C	5.37:g.140604627G>C	ENSP00000239449:p.Arg517Thr					PCDHB14_ENST00000515856.2_Missense_Mutation_p.R364T	p.R517T	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1550	+			517			Cadherin 5.		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	c.1550G>C	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	4.020	0.001107	0.07819	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.01629	4.72;4.72	4.15	3.26	0.37387	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.04137	0.0115	M	0.67953	2.075	0.09310	N	1	B	0.22851	0.076	B	0.30782	0.12	T	0.20240	-1.0281	9	0.59425	D	0.04	.	13.752	0.62912	0.0:0.1558:0.8442:0.0	.	517	Q9Y5E9	PCDBE_HUMAN	T	364;517	ENSP00000444518:R364T;ENSP00000239449:R517T	ENSP00000239449:R517T	R	+	2	0	PCDHB14	140584811	0.004000	0.15560	0.031000	0.17742	0.120000	0.20174	1.160000	0.31761	0.866000	0.35629	0.556000	0.70494	AGG		0.682	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		20	153	0	0	0	0.639603	0	20	153				
LILRB2	10288	broad.mit.edu	37	19	54780728	54780728	+	Silent	SNP	C	C	G			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr19:54780728C>G	ENST00000391749.4	-	10	1687	c.1416G>C	c.(1414-1416)ctG>ctC	p.L472L	LILRB2_ENST00000391748.1_Silent_p.L471L|LILRB2_ENST00000434421.1_Silent_p.L356L|LILRB2_ENST00000314446.5_Silent_p.L471L|LILRB2_ENST00000471216.1_5'Flank|LILRB2_ENST00000391746.1_Silent_p.L472L	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	472					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ggaggaggagcagtaggaCGA	0.582																																						ENST00000391748.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1411-1413)ctG>ctC		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2							230.0	165.0	187.0					19																	54780728		2203	4300	6503	SO:0001819	synonymous_variant	10288				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54780728C>G	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.1416G>C	19.37:g.54780728C>G						LILRB2_ENST00000391749.4_Silent_p.L472L|LILRB2_ENST00000434421.1_Silent_p.L356L|LILRB2_ENST00000391746.1_Silent_p.L472L|LILRB2_ENST00000314446.5_Silent_p.L471L	p.L471L	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	10	1540	-	Ovarian(34;0.19)		472					A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Silent	SNP	ENST00000391749.4	37	c.1413G>C	CCDS12886.1																																																																																				0.582	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			36	124	0	0	0	0.788014	0	36	124				
VPS33B	26276	broad.mit.edu	37	15	91557072	91557072	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr15:91557072G>A	ENST00000333371.3	-	5	672	c.319C>T	c.(319-321)Cga>Tga	p.R107*	VPS33B_ENST00000535906.1_Nonsense_Mutation_p.R80*|VPS33B_ENST00000557358.1_5'UTR|VPS33B_ENST00000535843.1_Nonsense_Mutation_p.R16*	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	107					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|membrane fusion (GO:0061025)|platelet alpha granule organization (GO:0070889)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule (GO:0031091)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					TTGCGAGTTCGGCCAGCCAAT	0.517																																						ENST00000333371.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	GRCh37	CM065516	VPS33B	M		c.(319-321)Cga>Tga		vacuolar protein sorting 33 homolog B (yeast)							153.0	134.0	141.0					15																	91557072		2198	4298	6496	SO:0001587	stop_gained	26276				cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding	g.chr15:91557072G>A	AF201694	CCDS10369.1, CCDS73783.1	15q26.1	2006-12-19	2006-12-19		ENSG00000184056	ENSG00000184056			12712	protein-coding gene	gene with protein product		608552	"""vacuolar protein sorting 33B (yeast homolog)"""			8996080	Standard	XM_005254887		Approved	FLJ14848	uc002bqp.1	Q9H267	OTTHUMG00000149835	ENST00000333371.3:c.319C>T	15.37:g.91557072G>A	ENSP00000327650:p.Arg107*					VPS33B_ENST00000557358.1_5'UTR|VPS33B_ENST00000535906.1_Nonsense_Mutation_p.R80*|VPS33B_ENST00000535843.1_Nonsense_Mutation_p.R16*	p.R107*	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN			5	672	-	Lung NSC(78;0.0987)|all_lung(78;0.175)		107					B3KQF6|Q96K14|Q9NRP6|Q9NSF3	Nonsense_Mutation	SNP	ENST00000333371.3	37	c.319C>T	CCDS10369.1	.	.	.	.	.	.	.	.	.	.	G	38	6.712614	0.97780	.	.	ENSG00000184056	ENST00000333371;ENST00000535906;ENST00000535843;ENST00000537510	.	.	.	5.63	3.74	0.42951	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-1.9333	16.0696	0.80914	0.0:0.0:0.574:0.426	.	.	.	.	X	107;80;16;62	.	ENSP00000327650:R107X	R	-	1	2	VPS33B	89358076	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	1.812000	0.38952	0.314000	0.23086	-0.808000	0.03180	CGA		0.517	VPS33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313496.1	NM_018668		40	146	0	0	0	0.840704	0	40	146				
TRHDE	29953	broad.mit.edu	37	12	73014920	73014920	+	Silent	SNP	T	T	C			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr12:73014920T>C	ENST00000261180.4	+	14	2463	c.2367T>C	c.(2365-2367)taT>taC	p.Y789Y		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	789					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CAACAACATATATCAAGCTTG	0.313																																						ENST00000261180.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(2365-2367)taT>taC		thyrotropin-releasing hormone degrading enzyme							95.0	90.0	92.0					12																	73014920		2203	4300	6503	SO:0001819	synonymous_variant	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:73014920T>C	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2367T>C	12.37:g.73014920T>C							p.Y789Y	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN			14	2463	+			789					A5PL19|Q6UWJ4	Silent	SNP	ENST00000261180.4	37	c.2367T>C	CCDS9004.1																																																																																				0.313	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		25	82	0	0	0	0.706142	0	25	82				
C3	718	broad.mit.edu	37	19	6692960	6692960	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr19:6692960G>A	ENST00000245907.6	-	26	3457	c.3365C>T	c.(3364-3366)gCg>gTg	p.A1122V		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1122					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	TATCACGGGCGCATCCTCCTG	0.557																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(3364-3366)gCg>gTg		complement component 3							120.0	125.0	123.0					19																	6692960		2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6692960G>A	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.3365C>T	19.37:g.6692960G>A	ENSP00000245907:p.Ala1122Val						p.A1122V	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	26	3457	-			1122					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.3365C>T	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.535622	0.64972	.	.	ENSG00000125730	ENST00000245907	T	0.36340	1.26	5.88	-0.693	0.11298	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.399877	0.28082	N	0.016661	T	0.47673	0.1458	M	0.76574	2.34	0.22199	N	0.999292	D	0.54964	0.969	P	0.48166	0.569	T	0.61559	-0.7038	10	0.48119	T	0.1	.	21.3471	0.99952	0.0:0.223:0.777:0.0	.	1122	P01024	CO3_HUMAN	V	1122	ENSP00000245907:A1122V	ENSP00000245907:A1122V	A	-	2	0	C3	6643960	0.005000	0.15991	0.191000	0.23289	0.673000	0.39480	0.146000	0.16180	0.064000	0.16427	-0.147000	0.13772	GCG		0.557	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		5	274	0	0	0	0.184627	0	5	274				
COBLL1	22837	broad.mit.edu	37	2	165551667	165551667	+	Silent	SNP	C	C	A	rs61748611		TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr2:165551667C>A	ENST00000392717.2	-	13	2467	c.2463G>T	c.(2461-2463)tcG>tcT	p.S821S	COBLL1_ENST00000375458.2_Silent_p.S745S|COBLL1_ENST00000409184.3_Silent_p.S783S|COBLL1_ENST00000194871.6_Silent_p.S850S|COBLL1_ENST00000342193.4_Silent_p.S783S			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	821						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						GCCAGTCTTTCGATATTTCCA	0.383																																						ENST00000375458.2																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						c.(2233-2235)tcG>tcT		cordon-bleu WH2 repeat protein-like 1							147.0	150.0	149.0					2																	165551667		2203	4300	6503	SO:0001819	synonymous_variant	22837							g.chr2:165551667C>A	AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.2463G>T	2.37:g.165551667C>A						COBLL1_ENST00000194871.6_Silent_p.S850S|COBLL1_ENST00000392717.2_Silent_p.S821S|COBLL1_ENST00000409184.3_Silent_p.S783S|COBLL1_ENST00000342193.4_Silent_p.S783S	p.S745S	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN			11	2456	-			821					A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Silent	SNP	ENST00000392717.2	37	c.2235G>T																																																																																					0.383	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900		5	321	1	0	0.248553	0.248553	0.253184	5	321				
LRRC4C	57689	broad.mit.edu	37	11	40135934	40135934	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr11:40135934C>G	ENST00000278198.2	-	2	3872	c.1909G>C	c.(1909-1911)Gag>Cag	p.E637Q	LRRC4C_ENST00000528697.1_Missense_Mutation_p.E637Q|LRRC4C_ENST00000530763.1_Missense_Mutation_p.E637Q|LRRC4C_ENST00000527150.1_Missense_Mutation_p.E637Q			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	637					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				ATTTGAGTCTCTTGTACATTG	0.318																																						ENST00000278198.2																			0				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86						c.(1909-1911)Gag>Cag		leucine rich repeat containing 4C							81.0	75.0	77.0					11																	40135934		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40135934C>G	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.1909G>C	11.37:g.40135934C>G	ENSP00000278198:p.Glu637Gln					LRRC4C_ENST00000527150.1_Missense_Mutation_p.E637Q|LRRC4C_ENST00000528697.1_Missense_Mutation_p.E637Q|LRRC4C_ENST00000530763.1_Missense_Mutation_p.E637Q	p.E637Q			Q9HCJ2	LRC4C_HUMAN			2	3872	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	637					A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.1909G>C	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.438289	0.62955	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	T	0.65112	0.2660	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.63769	-0.6562	10	0.72032	D	0.01	.	19.7224	0.96148	0.0:1.0:0.0:0.0	.	637	Q9HCJ2	LRC4C_HUMAN	Q	637	ENSP00000278198:E637Q;ENSP00000436976:E637Q;ENSP00000437132:E637Q;ENSP00000434761:E637Q	ENSP00000278198:E637Q	E	-	1	0	LRRC4C	40092510	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.906000	0.99361	0.655000	0.94253	GAG		0.318	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		18	97	0	0	0	0.539581	0	18	97				
ZBED8	63920	broad.mit.edu	37	5	159821393	159821393	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr5:159821393C>A	ENST00000408953.3	-	2	1612	c.1105G>T	c.(1105-1107)Gag>Tag	p.E369*	C5orf54_ENST00000523213.1_Nonsense_Mutation_p.E369*	NM_022090.3	NP_071373.2														breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						attttaaactctttattttca	0.353																																						ENST00000408953.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(1105-1107)Gag>Tag		chromosome 5 open reading frame 54							44.0	47.0	46.0					5																	159821393		2203	4298	6501	SO:0001587	stop_gained	63920							g.chr5:159821393C>A																												ENST00000408953.3:c.1105G>T	5.37:g.159821393C>A	ENSP00000386184:p.Glu369*					C5orf54_ENST00000523213.1_Nonsense_Mutation_p.E369*	p.E369*	NM_022090.3	NP_071373.2	Q8IZ13	CE054_HUMAN			2	1612	-			369						Nonsense_Mutation	SNP	ENST00000408953.3	37	c.1105G>T	CCDS34283.1	.	.	.	.	.	.	.	.	.	.	C	39	7.343379	0.98224	.	.	ENSG00000221886	ENST00000408953;ENST00000523213	.	.	.	2.78	2.78	0.32641	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	9.2447	0.37518	0.0:1.0:0.0:0.0	.	.	.	.	X	369	.	ENSP00000386184:E369X	E	-	1	0	C5orf54	159753971	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.272000	0.43373	1.880000	0.54463	0.655000	0.94253	GAG		0.353	C5orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374143.1			20	80	1	0	3.51602e-12	0.575678	4.17845e-12	20	80				
DCAF17	80067	broad.mit.edu	37	2	172309702	172309702	+	Silent	SNP	G	G	T			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr2:172309702G>T	ENST00000375255.3	+	6	933	c.606G>T	c.(604-606)ggG>ggT	p.G202G	DCAF17_ENST00000539783.1_Silent_p.G202G|DCAF17_ENST00000468592.1_3'UTR	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	202					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.G202G(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						CACTTGTAGGGATTCTAGAGA	0.328																																						ENST00000375255.3																			1	Substitution - coding silent(1)	p.G202G(1)	prostate(1)	endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						c.(604-606)ggG>ggT		DDB1 and CUL4 associated factor 17							112.0	101.0	104.0					2																	172309702		1832	4097	5929	SO:0001819	synonymous_variant	80067					CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus		g.chr2:172309702G>T	AK023158	CCDS2243.2, CCDS54419.1	2q31.1	2014-01-28	2009-07-17	2009-07-17	ENSG00000115827	ENSG00000115827		"""DDB1 and CUL4 associated factors"""	25784	protein-coding gene	gene with protein product	"""Woodhouse-Sakati syndrome"""	612515	"""chromosome 2 open reading frame 37"""	C2orf37			Standard	NM_001164821		Approved	FLJ13096	uc002ugx.3	Q5H9S7	OTTHUMG00000132259	ENST00000375255.3:c.606G>T	2.37:g.172309702G>T						DCAF17_ENST00000539783.1_Silent_p.G202G|DCAF17_ENST00000468592.1_3'UTR	p.G202G	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN			6	933	+			202					B2RTW5|Q53TN3|Q9H908	Silent	SNP	ENST00000375255.3	37	c.606G>T	CCDS2243.2	.	.	.	.	.	.	.	.	.	.	G	14.99	2.701320	0.48307	.	.	ENSG00000115827	ENST00000429466	.	.	.	5.67	0.717	0.18196	.	.	.	.	.	T	0.56659	0.2000	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54410	-0.8298	5	0.54805	T	0.06	-11.5491	4.6576	0.12626	0.4466:0.1573:0.396:0.0	.	.	.	.	Y	23	.	ENSP00000389290:D23Y	D	+	1	0	DCAF17	172017948	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.878000	0.28126	0.332000	0.23536	0.585000	0.79938	GAT		0.328	DCAF17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255342.2	NM_025000		4	99	1	0	0.184627	0.184627	0.189243	4	99				
MTNR1B	4544	broad.mit.edu	37	11	92715080	92715080	+	Missense_Mutation	SNP	C	C	T	rs373501373		TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr11:92715080C>T	ENST00000257068.2	+	2	697	c.691C>T	c.(691-693)Cgc>Tgc	p.R231C		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	231			R -> H (in dbSNP:rs8192553).		G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	GCTTCAGGCCCGCAGGAAAGC	0.582																																						ENST00000257068.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33						c.(691-693)Cgc>Tgc		melatonin receptor 1B	Ramelteon(DB00980)	C	CYS/ARG	0,4402		0,0,2201	74.0	63.0	67.0		691	2.2	0.8	11		67	1,8595	1.2+/-3.3	0,1,4297	no	missense	MTNR1B	NM_005959.3	180	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	231/363	92715080	1,12997	2201	4298	6499	SO:0001583	missense	4544				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	g.chr11:92715080C>T	AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"""GPCR / Class A : Melatonin receptors"""	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.691C>T	11.37:g.92715080C>T	ENSP00000257068:p.Arg231Cys						p.R231C	NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN			2	697	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	231		R -> H (in dbSNP:rs8192553).				Missense_Mutation	SNP	ENST00000257068.2	37	c.691C>T	CCDS8290.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.463873	0.43736	0.0	1.16E-4	ENSG00000134640	ENST00000257068	T	0.38560	1.13	4.21	2.18	0.27775	GPCR, rhodopsin-like superfamily (1);	0.058348	0.64402	D	0.000007	T	0.68384	0.2995	H	0.95982	3.75	0.30999	N	0.720566	D	0.76494	0.999	D	0.65140	0.932	T	0.71530	-0.4565	10	0.66056	D	0.02	-14.7292	7.7016	0.28625	0.2732:0.6344:0.0:0.0924	.	231	P49286	MTR1B_HUMAN	C	231	ENSP00000257068:R231C	ENSP00000257068:R231C	R	+	1	0	MTNR1B	92354728	0.545000	0.26449	0.814000	0.32528	0.789000	0.44602	0.407000	0.21049	1.122000	0.41944	-0.424000	0.05967	CGC		0.582	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1			21	127	0	0	0	0.592651	0	21	127				
COL4A3	1285	broad.mit.edu	37	2	228173694	228173694	+	Silent	SNP	A	A	T			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr2:228173694A>T	ENST00000396578.3	+	49	4704	c.4542A>T	c.(4540-4542)gcA>gcT	p.A1514A	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1514	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.|Required for the anti-angiogenic activity of tumstatin.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GTAATTTTGCATCTCGAAATG	0.433																																						ENST00000396578.3																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(4540-4542)gcA>gcT		collagen, type IV, alpha 3 (Goodpasture antigen)							117.0	107.0	110.0					2																	228173694		1918	4139	6057	SO:0001819	synonymous_variant	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228173694A>T		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.4542A>T	2.37:g.228173694A>T						AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA	p.A1514A	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	49	4704	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	1514			Collagen IV NC1.|Required for the anti-angiogenic activity of tumstatin.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Silent	SNP	ENST00000396578.3	37	c.4542A>T	CCDS42829.1																																																																																				0.433	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		35	106	0	0	0	0.788014	0	35	106				
RP11-423O2.5	0	broad.mit.edu	37	1	142803554	142803554	+	lincRNA	SNP	T	T	A			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr1:142803554T>A	ENST00000423385.1	-	0	1411																											CTGATGAATCTGCAGTCAGGT	0.274																																						ENST00000423385.1																			0																																																			0							g.chr1:142803554T>A																													1.37:g.142803554T>A														0	1411	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.274	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			5	226	0	0	0	0.184627	0	5	226				
HECTD4	283450	broad.mit.edu	37	12	112617111	112617111	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr12:112617111G>A	ENST00000430131.2	-	62	10957	c.9812C>T	c.(9811-9813)gCg>gTg	p.A3271V	HECTD4_ENST00000550722.1_Missense_Mutation_p.A3547V|HECTD4_ENST00000377560.5_Missense_Mutation_p.A3521V			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3271					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GATGGGCTTCGCTGGTGTCAG	0.547																																						ENST00000550722.1																			0											c.(10639-10641)gCg>gTg		HECT domain containing E3 ubiquitin protein ligase 4							71.0	80.0	77.0					12																	112617111		2055	4206	6261	SO:0001583	missense	283450							g.chr12:112617111G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.9812C>T	12.37:g.112617111G>A	ENSP00000404379:p.Ala3271Val					HECTD4_ENST00000377560.5_Missense_Mutation_p.A3521V|HECTD4_ENST00000430131.2_Missense_Mutation_p.A3271V	p.A3547V	NM_001109662.3	NP_001103132.3					63	11035	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.10640C>T		.	.	.	.	.	.	.	.	.	.	G	17.10	3.304108	0.60305	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.48522	0.82;0.82;0.81	5.62	4.7	0.59300	.	.	.	.	.	T	0.31389	0.0795	N	0.08118	0	0.38226	D	0.940901	B	0.09022	0.002	B	0.01281	0.0	T	0.12760	-1.0535	9	0.54805	T	0.06	.	16.2975	0.82783	0.0:0.1326:0.8674:0.0	.	3271	Q9Y4D8	K0614_HUMAN	V	3521;3271;3547	ENSP00000366783:A3521V;ENSP00000404379:A3271V;ENSP00000449784:A3547V	ENSP00000366783:A3521V	A	-	2	0	C12orf51	111101494	1.000000	0.71417	0.319000	0.25293	0.994000	0.84299	5.244000	0.65400	1.307000	0.44944	0.591000	0.81541	GCG		0.547	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		7	29	0	0	0	0.248553	0	7	29				
SCUBE1	80274	broad.mit.edu	37	22	43617226	43617226	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr22:43617226G>C	ENST00000360835.4	-	13	1628	c.1502C>G	c.(1501-1503)cCc>cGc	p.P501R		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	501					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CTGGCTGTGGGGCCGGAGGTG	0.642																																						ENST00000360835.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1501-1503)cCc>cGc		signal peptide, CUB domain, EGF-like 1							33.0	38.0	37.0					22																	43617226		2203	4299	6502	SO:0001583	missense	80274				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity	g.chr22:43617226G>C		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.1502C>G	22.37:g.43617226G>C	ENSP00000354080:p.Pro501Arg						p.P501R	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN			13	1628	-		all_neural(38;0.0414)|Ovarian(80;0.07)	501					Q5R336	Missense_Mutation	SNP	ENST00000360835.4	37	c.1502C>G	CCDS14048.1	.	.	.	.	.	.	.	.	.	.	G	5.614	0.298039	0.10622	.	.	ENSG00000159307	ENST00000360835	D	0.84660	-1.88	4.68	3.61	0.41365	.	0.286582	0.39834	N	0.001255	T	0.78355	0.4270	L	0.46885	1.475	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.71712	-0.4510	10	0.06891	T	0.86	.	15.9351	0.79698	0.0:0.1471:0.8529:0.0	.	501	Q8IWY4	SCUB1_HUMAN	R	501	ENSP00000354080:P501R	ENSP00000354080:P501R	P	-	2	0	SCUBE1	41947170	1.000000	0.71417	0.512000	0.27736	0.102000	0.19082	5.035000	0.64158	2.411000	0.81874	0.655000	0.94253	CCC		0.642	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	NM_173050		18	56	0	0	0	0.539581	0	18	56				
CSMD3	114788	broad.mit.edu	37	8	114111056	114111056	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr8:114111056T>C	ENST00000297405.5	-	5	1090	c.846A>G	c.(844-846)atA>atG	p.I282M	CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000343508.3_Missense_Mutation_p.I242M|CSMD3_ENST00000455883.2_Missense_Mutation_p.I282M|CSMD3_ENST00000352409.3_Missense_Mutation_p.I282M	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	282	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AATCAGTAAATATGAGTGAAA	0.383										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(844-846)atA>atG		CUB and Sushi multiple domains 3							101.0	96.0	98.0					8																	114111056		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:114111056T>C	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.846A>G	8.37:g.114111056T>C	ENSP00000297405:p.Ile282Met	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000352409.3_Missense_Mutation_p.I282M|CSMD3_ENST00000343508.3_Missense_Mutation_p.I242M|CSMD3_ENST00000455883.2_Missense_Mutation_p.I282M	p.I282M	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			5	1090	-			282			CUB 2.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.846A>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	16.53	3.149623	0.57151	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.17691	2.26;2.26;2.26;2.26	5.4	5.4	0.78164	CUB (5);	0.145074	0.45867	D	0.000328	T	0.23727	0.0574	N	0.20986	0.625	0.26448	N	0.97565	P;P;D;D	0.63880	0.755;0.571;0.977;0.993	B;B;P;D	0.63597	0.295;0.373;0.844;0.916	T	0.06862	-1.0803	10	0.41790	T	0.15	.	10.8936	0.47010	0.1403:0.0:0.0:0.8597	.	282;282;282;242	Q7Z407-3;Q7Z407-4;Q7Z407;Q7Z407-2	.;.;CSMD3_HUMAN;.	M	242;282;282;282	ENSP00000345799:I242M;ENSP00000297405:I282M;ENSP00000412263:I282M;ENSP00000343124:I282M	ENSP00000297405:I282M	I	-	3	3	CSMD3	114180232	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.981000	0.29526	2.182000	0.69389	0.528000	0.53228	ATA		0.383	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		26	118	0	0	0	0.667858	0	26	118				
FAT2	2196	broad.mit.edu	37	5	150885275	150885275	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr5:150885275G>A	ENST00000261800.5	-	23	12913	c.12901C>T	c.(12901-12903)Cgc>Tgc	p.R4301C		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4301					epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGGCTGAGGCGCATACCCACC	0.667																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(12901-12903)Cgc>Tgc		FAT atypical cadherin 2							33.0	37.0	36.0					5																	150885275		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150885275G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.12901C>T	5.37:g.150885275G>A	ENSP00000261800:p.Arg4301Cys						p.R4301C	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		23	12913	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	4301					O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.12901C>T	CCDS4317.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.19|18.19	3.569281|3.569281	0.65765|0.65765	.|.	.|.	ENSG00000086570|ENSG00000086570	ENST00000520200|ENST00000261800	.|T	.|0.78126	.|-1.15	4.81|4.81	2.85|2.85	0.33270|0.33270	.|.	.|0.000000	.|0.56097	.|D	.|0.000034	D|D	0.84492|0.84492	0.5484|0.5484	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.997;0.999	D|D	0.85481|0.85481	0.1179|0.1179	5|10	.|0.72032	.|D	.|0.01	.|.	12.8791|12.8791	0.58008|0.58008	0.0:0.0:0.7042:0.2958|0.0:0.0:0.7042:0.2958	.|.	.|4301;1406	.|Q9NYQ8;E9PDJ8	.|FAT2_HUMAN;.	V|C	1073|4301	.|ENSP00000261800:R4301C	.|ENSP00000261800:R4301C	A|R	-|-	2|1	0|0	FAT2|FAT2	150865468|150865468	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.614000|0.614000	0.37383|0.37383	4.947000|4.947000	0.63583|0.63583	0.985000|0.985000	0.38656|0.38656	0.561000|0.561000	0.74099|0.74099	GCG|CGC		0.667	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		4	73	0	0	0	0.150653	0	4	73				
YIPF7	285525	broad.mit.edu	37	4	44626759	44626759	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr4:44626759G>T	ENST00000332990.5	-	5	555	c.539C>A	c.(538-540)gCc>gAc	p.A180D	YIPF7_ENST00000415895.4_Missense_Mutation_p.A156D	NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	180						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						GCAGCCAATGGCACTCATGCC	0.507																																						ENST00000332990.5																			0				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						c.(538-540)gCc>gAc		Yip1 domain family, member 7							68.0	71.0	70.0					4																	44626759		2059	4201	6260	SO:0001583	missense	285525					endoplasmic reticulum membrane|integral to membrane		g.chr4:44626759G>T	AK096895	CCDS54766.1	4p13	2008-08-07			ENSG00000177752	ENSG00000177752		"""Yip1 domain family"""	26825	protein-coding gene	gene with protein product							Standard	NM_182592		Approved	FLJ39576, FinGER9	uc021xnx.1	Q8N8F6	OTTHUMG00000160467	ENST00000332990.5:c.539C>A	4.37:g.44626759G>T	ENSP00000332772:p.Ala180Asp						p.A180D	NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN			5	555	-			180					Q3SY21|Q3SY22	Missense_Mutation	SNP	ENST00000332990.5	37	c.539C>A	CCDS54766.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.5|21.5	4.153885|4.153885	0.78114|0.78114	.|.	.|.	ENSG00000177752|ENSG00000177752	ENST00000332990|ENST00000415895	T|.	0.46063|.	0.88|.	5.1|5.1	5.1|5.1	0.69264|0.69264	Yip1 domain (1);|.	.|.	.|.	.|.	.|.	T|.	0.68467|.	0.3004|.	M|M	0.78049|0.78049	2.395|2.395	0.41433|0.41433	D|D	0.987872|0.987872	D|.	0.60575|.	0.988|.	D|.	0.63597|.	0.916|.	T|.	0.69774|.	-0.5054|.	9|.	0.49607|.	T|.	0.09|.	-16.5819|-16.5819	9.3976|9.3976	0.38412|0.38412	0.1596:0.0:0.8404:0.0|0.1596:0.0:0.8404:0.0	.|.	180|.	Q8N8F6|.	YIPF7_HUMAN|.	D|X	180|156	ENSP00000332772:A180D|.	ENSP00000332772:A180D|.	A|C	-|-	2|3	0|2	YIPF7|YIPF7	44321516|44321516	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.853000|0.853000	0.48598|0.48598	5.519000|5.519000	0.67074|0.67074	2.654000|2.654000	0.90174|0.90174	0.655000|0.655000	0.94253|0.94253	GCC|TGC		0.507	YIPF7-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_182592		3	15	1	0	1.23904e-05	0.184627	1.37299e-05	3	15				
KDM6A	7403	broad.mit.edu	37	X	44929602	44929602	+	Splice_Site	SNP	G	G	T			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chrX:44929602G>T	ENST00000377967.4	+	17	2743	c.2702G>T	c.(2701-2703)aGg>aTg	p.R901M	KDM6A_ENST00000543216.1_Splice_Site_p.R822M|KDM6A_ENST00000382899.4_Splice_Site_p.R908M|KDM6A_ENST00000536777.1_Splice_Site_p.R856M	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	901	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.R901K(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AAGGCATGCAGGTTAGTGTGG	0.418			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"""D, N, F, S"""	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			"""renal, oesophageal SCC, MM"""		7	Whole gene deletion(6)|Substitution - Missense(1)	p.0?(6)|p.R901K(1)	oesophagus(2)|breast(2)|pancreas(2)|lung(1)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.e17+1		lysine (K)-specific demethylase 6A							29.0	27.0	28.0					X																	44929602		2201	4297	6498	SO:0001630	splice_region_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44929602G>T	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.2702+1G>T	X.37:g.44929602G>T						KDM6A_ENST00000543216.1_Splice_Site_p.R822_splice|KDM6A_ENST00000382899.4_Splice_Site_p.R908_splice|KDM6A_ENST00000536777.1_Splice_Site_p.R856_splice	p.R901_splice	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			17	2743	+			901					Q52LL9|Q5JVQ7	Splice_Site	SNP	ENST00000377967.4	37	c.2702_splice	CCDS14265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.84|17.84	3.488814|3.488814	0.64074|0.64074	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000414389;ENST00000433797|ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216	.|T;T;T;T	.|0.80994	.|-1.44;-1.44;-1.44;-1.44	4.95|4.95	4.95|4.95	0.65309|0.65309	.|.	.|0.043370	.|0.85682	.|D	.|0.000000	D|D	0.89836|0.89836	0.6830|0.6830	M|M	0.78801|0.78801	2.425|2.425	0.80722|0.80722	D|D	1|1	.|D;D;D;D;P;D	.|0.89917	.|0.999;0.998;0.999;1.0;0.95;1.0	.|D;D;D;D;P;D	.|0.87578	.|0.984;0.992;0.996;0.993;0.539;0.998	D|D	0.91434|0.91434	0.5168|0.5168	5|10	.|0.87932	.|D	.|0	-9.6295|-9.6295	17.4764|17.4764	0.87660|0.87660	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|540;908;856;953;867;901	.|B4E0L8;F8W8R6;F5H6S1;B7ZKN5;B4E253;O15550	.|.;.;.;.;.;KDM6A_HUMAN	H|M	498;543|598;901;856;908;822	.|ENSP00000367203:R901M;ENSP00000437405:R856M;ENSP00000372355:R908M;ENSP00000443078:R822M	.|ENSP00000334340:R598M	Q|R	+|+	3|2	2|0	KDM6A|KDM6A	44814546|44814546	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.416000|9.416000	0.97383|0.97383	2.054000|2.054000	0.61138|0.61138	0.544000|0.544000	0.68410|0.68410	CAG|AGG		0.418	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140	Missense_Mutation	9	13	1	0	4.68919e-08	0.361761	5.37781e-08	9	13				
GRM6	2916	broad.mit.edu	37	5	178413301	178413301	+	Missense_Mutation	SNP	C	C	T	rs150850494		TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr5:178413301C>T	ENST00000517717.1	-	9	1992	c.1954G>A	c.(1954-1956)Gcc>Acc	p.A652T	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Missense_Mutation_p.A652T			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	652					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		AGCCTGCGGGCGGCACAGACC	0.642																																						ENST00000231188.5																			0				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55						c.(1954-1956)Gcc>Acc		glutamate receptor, metabotropic 6		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	40.0	41.0	41.0		1954	1.1	0.0	5	dbSNP_134	41	1,8599	1.2+/-3.3	0,1,4299	no	missense	GRM6	NM_000843.3	58	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	652/878	178413301	2,13004	2203	4300	6503	SO:0001583	missense	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178413301C>T	U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1954G>A	5.37:g.178413301C>T	ENSP00000430767:p.Ala652Thr					GRM6_ENST00000517717.1_Missense_Mutation_p.A652T|RP11-281O15.4_ENST00000519491.1_RNA	p.A652T	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	8	2132	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	652						Missense_Mutation	SNP	ENST00000517717.1	37	c.1954G>A	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	C	7.349	0.622387	0.14193	2.27E-4	1.16E-4	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	D;D	0.87729	-2.29;-2.29	5.02	1.08	0.20341	GPCR, family 3, C-terminal (2);	.	.	.	.	T	0.73806	0.3634	N	0.10916	0.065	0.09310	N	1	P;D	0.55172	0.599;0.97	B;P	0.44921	0.208;0.464	T	0.65755	-0.6091	9	0.66056	D	0.02	.	3.7341	0.08504	0.1154:0.5517:0.113:0.2199	.	808;652	E7EX65;O15303	.;GRM6_HUMAN	T	808;652;652	ENSP00000231188:A652T;ENSP00000430767:A652T	ENSP00000231188:A652T	A	-	1	0	GRM6	178345907	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.217000	0.09253	-0.250000	0.09555	-1.598000	0.00824	GCC		0.642	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			4	21	0	0	0	0.184627	0	4	21				
CPN2	1370	broad.mit.edu	37	3	194062541	194062541	+	Silent	SNP	G	G	A	rs140809499	byFrequency	TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr3:194062541G>A	ENST00000323830.3	-	2	980	c.891C>T	c.(889-891)acC>acT	p.T297T	CPN2_ENST00000429275.1_Silent_p.T297T	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	297					protein stabilization (GO:0050821)|regulation of catalytic activity (GO:0050790)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	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;4.65e-05)		GCTGGTTATGGGTCAGAGACA	0.587																																						ENST00000323830.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27						c.(889-891)acC>acT		carboxypeptidase N, polypeptide 2							51.0	48.0	49.0					3																	194062541		2203	4300	6503	SO:0001819	synonymous_variant	1370				protein stabilization	extracellular region	enzyme regulator activity	g.chr3:194062541G>A	J05158	CCDS33920.1	3q29	2012-02-10	2007-02-23		ENSG00000178772	ENSG00000178772	3.4.17.3		2313	protein-coding gene	gene with protein product		603104	"""carboxypeptidase N, polypeptide 2, 83kD"""	ACBP		2378615, 9628828	Standard	XM_005269280		Approved		uc003fts.3	P22792	OTTHUMG00000156047	ENST00000323830.3:c.891C>T	3.37:g.194062541G>A						CPN2_ENST00000429275.1_Silent_p.T297T	p.T297T	NM_001080513.2	NP_001073982.2	P22792	CPN2_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;4.65e-05)	2	980	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		297					B2RPE7|Q86SU4|Q8N5V4	Silent	SNP	ENST00000323830.3	37	c.891C>T	CCDS33920.1																																																																																				0.587	CPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342856.2	NM_001080513		25	64	0	0	0	0.717897	0	25	64				
KRT16	3868	broad.mit.edu	37	17	39767694	39767694	+	Missense_Mutation	SNP	C	C	A	rs142812826	byFrequency	TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr17:39767694C>A	ENST00000301653.4	-	3	738	c.674G>T	c.(673-675)cGg>cTg	p.R225L		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	225	Coil 1B.|Rod.				aging (GO:0007568)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|epidermis development (GO:0008544)|hair cycle (GO:0042633)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of cell migration (GO:0030336)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				ATCCAACACCCGGCGCAGGCC	0.622																																						ENST00000301653.4																			0				NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(673-675)cGg>cTg		keratin 16							63.0	63.0	63.0					17																	39767694		2203	4300	6503	SO:0001583	missense	3868				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39767694C>A	S79867	CCDS11401.1	17q21.2	2013-01-16	2008-08-01		ENSG00000186832	ENSG00000186832		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6423	protein-coding gene	gene with protein product	"""focal non-epidermolytic palmoplantar keratoderma"""	148067				2451124, 16831889	Standard	NM_005557		Approved	NEPPK	uc002hxg.4	P08779	OTTHUMG00000133495	ENST00000301653.4:c.674G>T	17.37:g.39767694C>A	ENSP00000301653:p.Arg225Leu						p.R225L	NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN			3	738	-		Breast(137;0.000307)	225			Coil 1B.|Rod.		A8K488|P30654|Q16402|Q9UBG8	Missense_Mutation	SNP	ENST00000301653.4	37	c.674G>T	CCDS11401.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.085095	0.55861	.	.	ENSG00000186832	ENST00000301653	D	0.90197	-2.63	4.84	3.85	0.44370	Filament (1);	0.122812	0.29884	N	0.010943	D	0.95290	0.8472	M	0.91090	3.175	0.09310	N	0.99999	D	0.69078	0.997	D	0.74348	0.983	D	0.88730	0.3236	10	0.87932	D	0	.	8.3256	0.32156	0.0:0.7219:0.1303:0.1478	.	225	P08779	K1C16_HUMAN	L	225	ENSP00000301653:R225L	ENSP00000301653:R225L	R	-	2	0	KRT16	37021220	0.000000	0.05858	0.992000	0.48379	0.582000	0.36321	0.394000	0.20834	1.361000	0.45981	0.561000	0.74099	CGG		0.622	KRT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257408.1	NM_005557		25	101	1	0	4.87955e-14	0.693898	5.84122e-14	25	101				
C22orf31	25770	broad.mit.edu	37	22	29454807	29454807	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr22:29454807A>C	ENST00000216071.4	-	3	847	c.796T>G	c.(796-798)Ttc>Gtc	p.F266V		NM_015370.1	NP_056185.1	O95567	CV031_HUMAN	chromosome 22 open reading frame 31	266										cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						CTGCCAGGGAACCGGTCCCTC	0.522																																						ENST00000216071.4																			0				cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						c.(796-798)Ttc>Gtc		chromosome 22 open reading frame 31							106.0	96.0	99.0					22																	29454807		2203	4300	6503	SO:0001583	missense	25770							g.chr22:29454807A>C	AL035364	CCDS13848.1	22q12.1	2006-07-05			ENSG00000100249	ENSG00000100249			26931	protein-coding gene	gene with protein product						15461802	Standard	XM_005261490		Approved	HS747E2A, bK747E2.1	uc003aej.1	O95567	OTTHUMG00000151011	ENST00000216071.4:c.796T>G	22.37:g.29454807A>C	ENSP00000216071:p.Phe266Val						p.F266V	NM_015370.1	NP_056185.1	O95567	CV031_HUMAN			3	847	-			266					A0AV97	Missense_Mutation	SNP	ENST00000216071.4	37	c.796T>G	CCDS13848.1	.	.	.	.	.	.	.	.	.	.	A	10.05	1.245389	0.22796	.	.	ENSG00000100249	ENST00000216071	T	0.28454	1.61	5.65	-11.3	0.00108	.	1.857810	0.02969	N	0.144126	T	0.10294	0.0252	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.10222	-1.0639	10	0.15499	T	0.54	3.0451	3.1865	0.06603	0.5233:0.0869:0.2082:0.1816	.	266	O95567	CV031_HUMAN	V	266	ENSP00000216071:F266V	ENSP00000216071:F266V	F	-	1	0	C22orf31	27784807	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.109000	0.01335	-2.056000	0.00898	0.533000	0.62120	TTC		0.522	C22orf31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320952.1	NM_015370		17	154	0	0	0	0.520397	0	17	154				
TOMM34	10953	broad.mit.edu	37	20	43572117	43572117	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr20:43572117C>T	ENST00000372813.3	-	6	954	c.802G>A	c.(802-804)Gct>Act	p.A268T	PABPC1L_ENST00000372819.1_Intron|PABPC1L_ENST00000490798.1_Intron	NM_006809.4	NP_006800.2	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34	268					protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	11		Myeloproliferative disorder(115;0.0122)				TGGGCTTGAGCCCGTCTGTAG	0.473																																						ENST00000372813.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	11						c.(802-804)Gct>Act		translocase of outer mitochondrial membrane 34							175.0	156.0	162.0					20																	43572117		2203	4300	6503	SO:0001583	missense	10953				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	heat shock protein binding|signal sequence binding	g.chr20:43572117C>T	U58970	CCDS13340.1	20q12-q13.1	2013-01-10			ENSG00000025772	ENSG00000025772		"""Tetratricopeptide (TTC) repeat domain containing"""	15746	protein-coding gene	gene with protein product	"""outer mitochondrial membrane translocase (34kD)"""					9324309	Standard	NM_006809		Approved	TOM34, HTOM34P	uc002xmy.3	Q15785	OTTHUMG00000032552	ENST00000372813.3:c.802G>A	20.37:g.43572117C>T	ENSP00000361900:p.Ala268Thr					PABPC1L_ENST00000372819.1_Intron|PABPC1L_ENST00000490798.1_Intron	p.A268T	NM_006809.4	NP_006800.2	Q15785	TOM34_HUMAN			6	954	-		Myeloproliferative disorder(115;0.0122)	268					Q53GH9|Q6IBN7|Q9NTZ3	Missense_Mutation	SNP	ENST00000372813.3	37	c.802G>A	CCDS13340.1	.	.	.	.	.	.	.	.	.	.	C	33	5.196078	0.94960	.	.	ENSG00000025772	ENST00000372813	T	0.80480	-1.38	5.2	5.2	0.72013	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.054707	0.64402	D	0.000001	D	0.93239	0.7846	H	0.96691	3.865	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95117	0.8243	10	0.87932	D	0	-19.1025	16.6871	0.85311	0.0:1.0:0.0:0.0	.	268	Q15785	TOM34_HUMAN	T	268	ENSP00000361900:A268T	ENSP00000361900:A268T	A	-	1	0	TOMM34	43005531	1.000000	0.71417	0.996000	0.52242	0.839000	0.47603	6.569000	0.73992	2.704000	0.92352	0.655000	0.94253	GCT		0.473	TOMM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079390.3	NM_006809		5	222	0	0	0	0.248553	0	5	222				
PKHD1	5314	broad.mit.edu	37	6	51893027	51893027	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr6:51893027C>T	ENST00000371117.3	-	30	3762	c.3487G>A	c.(3487-3489)Gca>Aca	p.A1163T	PKHD1_ENST00000340994.4_Missense_Mutation_p.A1163T	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1163	IPT/TIG 6; atypical.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGGGGCAGTGCCACCTCCAGG	0.547																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(3487-3489)Gca>Aca		polycystic kidney and hepatic disease 1 (autosomal recessive)							120.0	130.0	126.0					6																	51893027		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51893027C>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.3487G>A	6.37:g.51893027C>T	ENSP00000360158:p.Ala1163Thr					PKHD1_ENST00000340994.4_Missense_Mutation_p.A1163T	p.A1163T	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			30	3762	-	Lung NSC(77;0.0605)		1163			IPT/TIG 6; atypical.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.3487G>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	4.207	0.037115	0.08148	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.86230	-1.88;-2.09	5.7	0.804	0.18697	Cell surface receptor IPT/TIG (1);	0.906320	0.09550	N	0.787011	T	0.41190	0.1148	N	0.04508	-0.205	0.18873	N	0.999988	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.44019	-0.9355	10	0.05959	T	0.93	.	4.441	0.11573	0.0:0.3936:0.3014:0.305	.	1163;1163	P08F94-2;P08F94	.;PKHD1_HUMAN	T	1163	ENSP00000360158:A1163T;ENSP00000341097:A1163T	ENSP00000341097:A1163T	A	-	1	0	PKHD1	52000986	0.000000	0.05858	0.882000	0.34594	0.033000	0.12548	-0.240000	0.08952	0.051000	0.15978	-0.137000	0.14449	GCA		0.547	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		5	212	0	0	0	0.184627	0	5	212				
TUBBP1	92755	broad.mit.edu	37	8	30210308	30210308	+	RNA	SNP	G	G	A			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr8:30210308G>A	ENST00000518096.1	+	0	920									tubulin, beta pseudogene 1																		CCCTTCCCACGTCTCCATTTC	0.562																																						ENST00000518096.1																			0																																																			92755							g.chr8:30210308G>A	J00317		8p12	2012-10-16	2005-11-15		ENSG00000127589	ENSG00000127589			12414	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 1"""			7070533	Standard	NG_001206		Approved				OTTHUMG00000163834		8.37:g.30210308G>A														0	920	+									RNA	SNP	ENST00000518096.1	37																																																																																						0.562	TUBBP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375880.1	NG_001206		15	123	0	0	0	0.479597	0	15	123				
STXBP3	6814	broad.mit.edu	37	1	109295688	109295688	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr1:109295688A>T	ENST00000370008.3	+	3	153	c.103A>T	c.(103-105)Atg>Ttg	p.M35L		NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	35	Mediates interaction with DOC2B. {ECO:0000250}.				blood coagulation (GO:0007596)|membrane organization (GO:0061024)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|neutrophil degranulation (GO:0043312)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein heterooligomerization (GO:0051291)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin binding (GO:0019905)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		TTTTAAGATAATGCTTTTAGA	0.289																																						ENST00000370008.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13						c.(103-105)Atg>Ttg		syntaxin binding protein 3							89.0	89.0	89.0					1																	109295688		2202	4295	6497	SO:0001583	missense	6814				negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding	g.chr1:109295688A>T	D63506	CCDS790.1	1p13.3	2008-02-05			ENSG00000116266	ENSG00000116266			11446	protein-coding gene	gene with protein product		608339				10194441	Standard	NM_007269		Approved	UNC-18C	uc001dvy.3	O00186	OTTHUMG00000011122	ENST00000370008.3:c.103A>T	1.37:g.109295688A>T	ENSP00000359025:p.Met35Leu						p.M35L	NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)	3	153	+		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	35			Mediates interaction with DOC2B (By similarity).		A8K269|A8K5K7|Q53FW1|Q86YJ3|Q9UPD7	Missense_Mutation	SNP	ENST00000370008.3	37	c.103A>T	CCDS790.1	.	.	.	.	.	.	.	.	.	.	A	4.316	0.058032	0.08339	.	.	ENSG00000116266	ENST00000370008	T	0.37411	1.2	5.5	4.35	0.52113	.	0.367785	0.30979	N	0.008496	T	0.01800	0.0057	N	0.00128	-2.045	0.30800	N	0.73993	B	0.02656	0.0	B	0.04013	0.001	T	0.42481	-0.9449	10	0.02654	T	1	-8.1781	10.6693	0.45749	0.6933:0.3067:0.0:0.0	.	35	O00186	STXB3_HUMAN	L	35	ENSP00000359025:M35L	ENSP00000359025:M35L	M	+	1	0	STXBP3	109097211	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.529000	0.35996	0.879000	0.35944	0.482000	0.46254	ATG		0.289	STXBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030591.1	NM_007269		36	110	0	0	0	0.779181	0	36	110				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522815	95522815	+	RNA	SNP	A	A	G	rs372261324		TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr2:95522815A>G	ENST00000432432.2	-	0	212					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene																		ATCTTCTGCAATTCGGAGTCC	0.652																																						ENST00000432432.2																			0																																																			729171							g.chr2:95522815A>G			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522815A>G								NR_040113.1						0	212	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.652	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			6	85	0	0	0	0.278610	0	6	85				
ZFAND4	93550	broad.mit.edu	37	10	46121636	46121636	+	Silent	SNP	C	C	T			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr10:46121636C>T	ENST00000344646.5	-	7	1850	c.1635G>A	c.(1633-1635)gaG>gaA	p.E545E	ZFAND4_ENST00000374371.2_Intron|ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000374366.3_Silent_p.E471E	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ZFAN4_HUMAN	zinc finger, AN1-type domain 4	545							zinc ion binding (GO:0008270)										TATCCCGAGCCTCAACTTTGG	0.398																																						ENST00000374366.3																			0											c.(1411-1413)gaG>gaA		zinc finger, AN1-type domain 4							84.0	87.0	86.0					10																	46121636		2203	4300	6503	SO:0001819	synonymous_variant	93550						zinc ion binding	g.chr10:46121636C>T	AF311324	CCDS7214.1, CCDS60520.1	10q11.22	2013-01-09	2011-11-10	2011-11-10	ENSG00000172671	ENSG00000172671		"""Zinc fingers, AN1-type domain containing"""	23504	protein-coding gene	gene with protein product			"""AN1, ubiquitin-like, homolog (Xenopus laevis)"""	ANUBL1			Standard	XM_005271837		Approved	FLJ40185	uc001jcp.4	Q86XD8	OTTHUMG00000018085	ENST00000344646.5:c.1635G>A	10.37:g.46121636C>T						ZFAND4_ENST00000344646.5_Silent_p.E545E|ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000374371.2_Intron	p.E471E			Q86XD8	ANUB1_HUMAN			8	1878	-			545					A8K8V4|B2RAX2|Q5VVY5	Silent	SNP	ENST00000344646.5	37	c.1413G>A	CCDS7214.1																																																																																				0.398	ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047790.1	NM_174890		45	165	0	0	0	0.847076	0	45	165				
EPHB4	2050	broad.mit.edu	37	7	100414856	100414856	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr7:100414856C>T	ENST00000358173.3	-	8	2014	c.1546G>A	c.(1546-1548)Ggg>Agg	p.G516R	EPHB4_ENST00000477446.1_Intron|EPHB4_ENST00000360620.3_Missense_Mutation_p.G516R	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	516	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCGAAGGGCCCGTAGCCGGCC	0.657																																					GBM(200;2113 3072 25865 52728)	ENST00000358173.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47						c.(1546-1548)Ggg>Agg		EPH receptor B4							19.0	19.0	19.0					7																	100414856		2202	4299	6501	SO:0001583	missense	2050				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:100414856C>T	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.1546G>A	7.37:g.100414856C>T	ENSP00000350896:p.Gly516Arg					EPHB4_ENST00000360620.3_Missense_Mutation_p.G516R|EPHB4_ENST00000477446.1_Intron	p.G516R	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN			8	2014	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		516			Fibronectin type-III 2.		B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP	ENST00000358173.3	37	c.1546G>A	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.940925	0.92526	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	T;T	0.63580	-0.05;-0.05	5.3	5.3	0.74995	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000038	D	0.84835	0.5560	H	0.94306	3.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89115	0.3499	10	0.87932	D	0	.	16.4264	0.83816	0.0:1.0:0.0:0.0	.	516;516	Q96L35;P54760	.;EPHB4_HUMAN	R	516	ENSP00000353833:G516R;ENSP00000350896:G516R	ENSP00000350896:G516R	G	-	1	0	EPHB4	100252792	1.000000	0.71417	0.974000	0.42286	0.767000	0.43475	7.413000	0.80104	2.471000	0.83476	0.555000	0.69702	GGG		0.657	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		7	31	0	0	0	0.307466	0	7	31				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		6	68	0	0	0	0.217242	0	6	68				
MYO5A	4644	broad.mit.edu	37	15	52672048	52672048	+	Silent	SNP	G	G	A			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr15:52672048G>A	ENST00000399231.3	-	17	2313	c.2070C>T	c.(2068-2070)atC>atT	p.I690I	MYO5A_ENST00000553916.1_Silent_p.I690I|MYO5A_ENST00000399233.2_Silent_p.I690I|MYO5A_ENST00000358212.6_Silent_p.I690I|MYO5A_ENST00000356338.6_Silent_p.I690I	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	690	Myosin motor.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CACTGATTCGGATGGTTTCCA	0.473																																						ENST00000399231.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.(2068-2070)atC>atT		myosin VA (heavy chain 12, myoxin)							100.0	105.0	103.0					15																	52672048		1968	4157	6125	SO:0001819	synonymous_variant	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52672048G>A		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.2070C>T	15.37:g.52672048G>A						MYO5A_ENST00000553916.1_Silent_p.I690I|MYO5A_ENST00000358212.6_Silent_p.I690I|MYO5A_ENST00000399233.2_Silent_p.I690I|MYO5A_ENST00000356338.6_Silent_p.I690I	p.I690I	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	17	2313	-			690			Myosin head-like.		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Silent	SNP	ENST00000399231.3	37	c.2070C>T	CCDS42037.1																																																																																				0.473	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		43	190	0	0	0	0.870114	0	43	190				
ADCY8	114	broad.mit.edu	37	8	131793033	131793033	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr8:131793033C>T	ENST00000286355.5	-	18	5451	c.3359G>A	c.(3358-3360)cGa>cAa	p.R1120Q	ADCY8_ENST00000377928.3_Missense_Mutation_p.R989Q	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1120					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GCTGTCCATTCGGCTTGCCAG	0.567										HNSCC(32;0.087)																												ENST00000286355.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(3358-3360)cGa>cAa		adenylate cyclase 8 (brain)							127.0	128.0	127.0					8																	131793033		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131793033C>T	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.3359G>A	8.37:g.131793033C>T	ENSP00000286355:p.Arg1120Gln	HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Missense_Mutation_p.R989Q	p.R1120Q	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		18	5451	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		1120						Missense_Mutation	SNP	ENST00000286355.5	37	c.3359G>A	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	C	36	5.917783	0.97105	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.55588	0.51;0.51	6.03	6.03	0.97812	Adenylyl cyclase class-3/4/guanylyl cyclase, conserved site (1);Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	T	0.80065	0.4555	M	0.91717	3.235	0.44380	D	0.99728	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.83235	-0.0061	10	0.87932	D	0	.	19.545	0.95291	0.0:1.0:0.0:0.0	.	989;1120	E7EVL1;P40145	.;ADCY8_HUMAN	Q	1120;989	ENSP00000286355:R1120Q;ENSP00000367161:R989Q	ENSP00000286355:R1120Q	R	-	2	0	ADCY8	131862215	1.000000	0.71417	0.945000	0.38365	0.990000	0.78478	7.818000	0.86416	2.861000	0.98227	0.655000	0.94253	CGA		0.567	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			64	304	0	0	0	0.870114	0	64	304				
ZNF12	7559	broad.mit.edu	37	7	6731084	6731084	+	Nonsense_Mutation	SNP	C	C	A	rs189725059		TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr7:6731084C>A	ENST00000405858.1	-	5	2030	c.1489G>T	c.(1489-1491)Gaa>Taa	p.E497*	AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000404360.1_Nonsense_Mutation_p.E423*|ZNF12_ENST00000342651.5_Nonsense_Mutation_p.E459*|AC073343.2_ENST00000577401.1_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	497					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TTTCCACATTCATTACATTCG	0.398																																						ENST00000405858.1																			0				NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16						c.(1489-1491)Gaa>Taa		zinc finger protein 12							114.0	126.0	122.0					7																	6731084		2191	4297	6488	SO:0001587	stop_gained	7559				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:6731084C>A	X52334, AB021643	CCDS47538.1, CCDS47539.1	7p21.1	2013-01-08	2005-06-09		ENSG00000164631	ENSG00000164631		"""Zinc fingers, C2H2-type"", ""-"""	12902	protein-coding gene	gene with protein product		194536	"""zinc finger protein 325"""	ZNF325			Standard	NM_016265		Approved	KOX3, GIOT-3	uc003sqt.1	P17014	OTTHUMG00000151910	ENST00000405858.1:c.1489G>T	7.37:g.6731084C>A	ENSP00000385939:p.Glu497*					AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000404360.1_Nonsense_Mutation_p.E423*|ZNF12_ENST00000342651.5_Nonsense_Mutation_p.E459*	p.E497*	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)	5	2030	-		Ovarian(82;0.0776)	497					A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	Nonsense_Mutation	SNP	ENST00000405858.1	37	c.1489G>T	CCDS47538.1	.	.	.	.	.	.	.	.	.	.	C	41	8.868745	0.98984	.	.	ENSG00000164631	ENST00000404360;ENST00000405858;ENST00000342651;ENST00000399476	.	.	.	3.87	3.87	0.44632	.	0.000000	0.39020	N	0.001497	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	14.1171	0.65161	0.0:1.0:0.0:0.0	.	.	.	.	X	423;497;459;555	.	ENSP00000344745:E459X	E	-	1	0	ZNF12	6697609	0.004000	0.15560	0.746000	0.31095	0.872000	0.50106	1.496000	0.35638	2.452000	0.82932	0.563000	0.77884	GAA		0.398	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324373.2	NM_016265		48	180	1	0	2.65591e-33	0.870114	3.57024e-33	48	180				
VWA2	340706	broad.mit.edu	37	10	116045935	116045935	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr10:116045935G>A	ENST00000392982.3	+	11	1485	c.1235G>A	c.(1234-1236)gGc>gAc	p.G412D	VWA2_ENST00000603594.1_Missense_Mutation_p.G412D			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	412	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium-independent cell-matrix adhesion (GO:0007161)|protein homooligomerization (GO:0051260)|regulation of insulin receptor signaling pathway (GO:0046626)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		AGCCTCGATGGCATTCCCTTC	0.697																																						ENST00000603594.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26						c.(1234-1236)gGc>gAc		von Willebrand factor A domain containing 2							77.0	69.0	72.0					10																	116045935		2203	4300	6503	SO:0001583	missense	340706					extracellular region		g.chr10:116045935G>A	AK127756	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			ENSG00000165816	ENSG00000165816			24709	protein-coding gene	gene with protein product						15580307, 14506275	Standard	NM_001272046		Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	Q5GFL6	OTTHUMG00000019082	ENST00000392982.3:c.1235G>A	10.37:g.116045935G>A	ENSP00000376708:p.Gly412Asp					VWA2_ENST00000392982.3_Missense_Mutation_p.G412D	p.G412D	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN		Epithelial(162;0.036)|all cancers(201;0.0793)	11	1556	+			412			VWFA 2.		A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Missense_Mutation	SNP	ENST00000392982.3	37	c.1235G>A		.	.	.	.	.	.	.	.	.	.	G	1.929	-0.446386	0.04604	.	.	ENSG00000165816	ENST00000392982;ENST00000298715	T	0.77877	-1.13	5.6	-1.42	0.08913	von Willebrand factor, type A (3);	0.732438	0.12930	N	0.427434	T	0.62588	0.2440	L	0.41236	1.265	0.09310	N	1	P;P;P	0.38767	0.646;0.551;0.496	B;B;B	0.37601	0.23;0.254;0.165	T	0.52268	-0.8598	10	0.16896	T	0.51	.	7.4342	0.27145	0.2897:0.4489:0.2613:0.0	.	108;412;412	Q5GFL6-3;Q5GFL6;Q5GFL6-2	.;VWA2_HUMAN;.	D	412	ENSP00000376708:G412D	ENSP00000298715:G412D	G	+	2	0	VWA2	116035925	0.000000	0.05858	0.000000	0.03702	0.140000	0.21249	0.889000	0.28282	-0.214000	0.10078	0.563000	0.77884	GGC		0.697	VWA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050456.3	NM_198496		4	133	0	0	0	0.150653	0	4	133				
NOC2L	26155	broad.mit.edu	37	1	889227	889227	+	Missense_Mutation	SNP	G	G	A	rs370030288		TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr1:889227G>A	ENST00000327044.6	-	8	872	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	NOC2L_ENST00000487214.1_5'Flank	NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	275					apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CTGATGTGCCGCAGCACGGCC	0.617																																						ENST00000327044.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16						c.(823-825)Cgg>Tgg		nucleolar complex associated 2 homolog (S. cerevisiae)		G	TRP/ARG	1,4405		0,1,2202	35.0	38.0	37.0		823	4.3	0.2	1		37	1,8599	1.2+/-3.3	0,1,4299	no	missense	NOC2L	NM_015658.3	101	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	275/750	889227	2,13004	2203	4300	6503	SO:0001583	missense	26155					nucleolus	protein binding	g.chr1:889227G>A	AL050019	CCDS3.1	1p36.33	2014-06-12			ENSG00000188976	ENSG00000188976			24517	protein-coding gene	gene with protein product	"""novel INHAT repressor"", ""protein phosphatase 1, regulatory subunit 12"""	610770					Standard	NM_015658		Approved	DKFZP564C186, NET7, NET15, NIR, PPP1R112	uc001abz.4	Q9Y3T9	OTTHUMG00000040720	ENST00000327044.6:c.823C>T	1.37:g.889227G>A	ENSP00000317992:p.Arg275Trp						p.R275W	NM_015658.3	NP_056473.2	Q9Y3T9	NOC2L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	8	872	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	275					Q5SVA3|Q9BTN6	Missense_Mutation	SNP	ENST00000327044.6	37	c.823C>T	CCDS3.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.460554	0.43736	2.27E-4	1.16E-4	ENSG00000188976	ENST00000327044	T	0.24723	1.84	4.28	4.28	0.50868	Armadillo-type fold (1);	0.410909	0.25238	N	0.032113	T	0.22589	0.0545	L	0.33485	1.01	0.25940	N	0.982882	B;B;B	0.18863	0.031;0.014;0.031	B;B;B	0.16722	0.016;0.006;0.016	T	0.19910	-1.0291	10	0.59425	D	0.04	-17.7383	15.865	0.79057	0.0:0.0:1.0:0.0	.	275;275;42	B3KNC3;Q9Y3T9;Q9H9J5	.;NOC2L_HUMAN;.	W	275	ENSP00000317992:R275W	ENSP00000317992:R275W	R	-	1	2	NOC2L	879090	0.995000	0.38212	0.201000	0.23476	0.059000	0.15707	3.798000	0.55522	2.217000	0.71921	0.305000	0.20034	CGG		0.617	NOC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097869.1	NM_015658		7	53	0	0	0	0.278610	0	7	53				
RFT1	91869	broad.mit.edu	37	3	53156407	53156407	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr3:53156407T>C	ENST00000296292.3	-	4	500	c.439A>G	c.(439-441)Atg>Gtg	p.M147V	RFT1_ENST00000394738.3_Missense_Mutation_p.M108V	NM_052859.3	NP_443091.1	Q96AA3	RFT1_HUMAN	RFT1 homolog (S. cerevisiae)	147					carbohydrate transport (GO:0008643)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)	lipid transporter activity (GO:0005319)			NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		TTCACAAACATATGTGCTTGT	0.443																																						ENST00000296292.3																			0				NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12						c.(439-441)Atg>Gtg		RFT1 homolog (S. cerevisiae)							99.0	98.0	99.0					3																	53156407		2203	4300	6503	SO:0001583	missense	91869				carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity	g.chr3:53156407T>C	AJ318099	CCDS2869.1	3p21.1	2014-02-06	2005-01-26		ENSG00000163933	ENSG00000163933			30220	protein-coding gene	gene with protein product	"""congenital disorder of glycosylation 1N"""	611908	"""RFT1, requiring fifty three 1 homolog (S. cerevisiae)"""			12477932	Standard	NM_052859		Approved	CDG1N	uc003dgj.3	Q96AA3	OTTHUMG00000074035	ENST00000296292.3:c.439A>G	3.37:g.53156407T>C	ENSP00000296292:p.Met147Val					RFT1_ENST00000394738.3_Missense_Mutation_p.M108V	p.M147V	NM_052859.3	NP_443091.1	Q96AA3	RFT1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)	4	500	-			147					Q96J03	Missense_Mutation	SNP	ENST00000296292.3	37	c.439A>G	CCDS2869.1	.	.	.	.	.	.	.	.	.	.	T	11.50	1.657227	0.29425	.	.	ENSG00000163933	ENST00000296292;ENST00000394738;ENST00000467048	D;D;D	0.85013	-1.93;-1.93;-1.93	5.95	3.47	0.39725	.	0.118609	0.85682	D	0.000000	T	0.79167	0.4400	L	0.47716	1.5	0.41898	D	0.990407	B;B	0.27192	0.171;0.171	B;B	0.31337	0.128;0.128	T	0.69967	-0.5001	10	0.31617	T	0.26	.	7.9293	0.29893	0.1323:0.0:0.4111:0.4566	.	108;147	B5MDE0;Q96AA3	.;RFT1_HUMAN	V	147;108;147	ENSP00000296292:M147V;ENSP00000378223:M108V;ENSP00000420325:M147V	ENSP00000296292:M147V	M	-	1	0	RFT1	53131447	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	2.667000	0.46808	0.453000	0.26858	0.528000	0.53228	ATG		0.443	RFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157136.2	NM_052859		44	93	0	0	0	0.870114	0	44	93				
AHCYL2	23382	broad.mit.edu	37	7	129053482	129053482	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr7:129053482A>G	ENST00000325006.3	+	12	1468	c.1414A>G	c.(1414-1416)Agc>Ggc	p.S472G	AHCYL2_ENST00000446212.1_Missense_Mutation_p.S370G|AHCYL2_ENST00000531335.2_Missense_Mutation_p.S391G|AHCYL2_ENST00000446544.2_Missense_Mutation_p.S471G|AHCYL2_ENST00000490911.1_Missense_Mutation_p.S369G|AHCYL2_ENST00000474594.1_Missense_Mutation_p.S369G	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	472					one-carbon metabolic process (GO:0006730)		adenosylhomocysteinase activity (GO:0004013)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						TATGAAGAATAGCTGCATCGT	0.428																																					Pancreas(160;1736 1964 29875 40941 45605)	ENST00000325006.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						c.(1414-1416)Agc>Ggc		adenosylhomocysteinase-like 2							174.0	147.0	156.0					7																	129053482		2203	4300	6503	SO:0001583	missense	23382				one-carbon metabolic process		adenosylhomocysteinase activity	g.chr7:129053482A>G	AB020635	CCDS5812.1, CCDS47706.1, CCDS47707.1, CCDS47708.1, CCDS47707.2	7q32.1	2009-06-12	2009-06-12		ENSG00000158467	ENSG00000158467			22204	protein-coding gene	gene with protein product			"""S-adenosylhomocysteine hydrolase-like 2"""				Standard	NM_001130720		Approved	KIAA0828	uc011kov.2	Q96HN2	OTTHUMG00000157677	ENST00000325006.3:c.1414A>G	7.37:g.129053482A>G	ENSP00000315931:p.Ser472Gly					AHCYL2_ENST00000446212.1_Missense_Mutation_p.S370G|AHCYL2_ENST00000490911.1_Missense_Mutation_p.S369G|AHCYL2_ENST00000531335.2_Missense_Mutation_p.S391G|AHCYL2_ENST00000446544.2_Missense_Mutation_p.S471G|AHCYL2_ENST00000474594.1_Missense_Mutation_p.S369G	p.S472G	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN			12	1468	+			472					B4DIZ5|D9N155|O94917	Missense_Mutation	SNP	ENST00000325006.3	37	c.1414A>G	CCDS5812.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.939|6.939	0.543114|0.543114	0.13250|0.13250	.|.	.|.	ENSG00000158467|ENSG00000158467	ENST00000466924|ENST00000325006;ENST00000446544;ENST00000531335;ENST00000474594;ENST00000446212;ENST00000490911	.|T;T;T;T;T;T	.|0.74947	.|-0.87;-0.87;-0.89;-0.88;-0.88;-0.88	5.7|5.7	5.7|5.7	0.88788|0.88788	.|S-adenosyl-L-homocysteine hydrolase, NAD binding (1);	.|0.042745	.|0.85682	.|D	.|0.000000	T|T	0.19805|0.19805	0.0476|0.0476	N|N	0.00003|0.00003	-3.47|-3.47	0.51482|0.51482	D|D	0.999923|0.999923	.|B;B;B;B;B	.|0.09022	.|0.0;0.0;0.002;0.0;0.002	.|B;B;B;B;B	.|0.04013	.|0.0;0.0;0.001;0.0;0.001	T|T	0.55958|0.55958	-0.8058|-0.8058	5|10	.|0.02654	.|T	.|1	-16.6297|-16.6297	9.3243|9.3243	0.37984|0.37984	0.9194:0.0:0.0806:0.0|0.9194:0.0:0.0806:0.0	.|.	.|369;370;472;369;471	.|B4DIZ5;D7UEQ7;Q96HN2;D9N155;Q96HN2-2	.|.;.;SAHH3_HUMAN;.;.	M|G	378|472;471;391;369;370;369	.|ENSP00000315931:S472G;ENSP00000413639:S471G;ENSP00000431787:S391G;ENSP00000420459:S369G;ENSP00000405267:S370G;ENSP00000420801:S369G	.|ENSP00000315931:S472G	I|S	+|+	3|1	3|0	AHCYL2|AHCYL2	128840718|128840718	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.730000|5.730000	0.68546|0.68546	2.165000|2.165000	0.68154|0.68154	0.528000|0.528000	0.53228|0.53228	ATA|AGC		0.428	AHCYL2-012	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354065.1			23	104	0	0	0	0.681144	0	23	104				
CXCL10	3627	broad.mit.edu	37	4	76943875	76943875	+	Missense_Mutation	SNP	C	C	G	rs200825234		TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr4:76943875C>G	ENST00000306602.1	-	2	222	c.157G>C	c.(157-159)Gca>Cca	p.A53P	ART3_ENST00000341029.5_Intron	NM_001565.3	NP_001556.2	P02778	CXL10_HUMAN	chemokine (C-X-C motif) ligand 10	53					blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to heat (GO:0034605)|cellular response to lipopolysaccharide (GO:0071222)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|defense response to virus (GO:0051607)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|muscle organ development (GO:0007517)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cell proliferation (GO:0008284)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of T cell migration (GO:2000406)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein secretion (GO:0009306)|regulation of cell proliferation (GO:0042127)|regulation of protein kinase activity (GO:0045859)|response to auditory stimulus (GO:0010996)|response to cold (GO:0009409)|response to gamma radiation (GO:0010332)|response to vitamin D (GO:0033280)|signal transduction (GO:0007165)|T cell chemotaxis (GO:0010818)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	cAMP-dependent protein kinase regulator activity (GO:0008603)|chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|heparin binding (GO:0008201)|receptor binding (GO:0005102)			kidney(1)|large_intestine(1)|lung(1)	3			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AATTGGCTTGCAGGAATAATT	0.363																																						ENST00000306602.1																			0				kidney(1)|large_intestine(1)|lung(1)	3						c.(157-159)Gca>Cca		chemokine (C-X-C motif) ligand 10							108.0	100.0	103.0					4																	76943875		1853	4097	5950	SO:0001583	missense	3627				blood circulation|cell surface receptor linked signaling pathway|cell-cell signaling|chemotaxis|inflammatory response|muscle organ development|positive regulation of cell proliferation	extracellular space	cAMP-dependent protein kinase regulator activity|chemokine activity	g.chr4:76943875C>G	X02530	CCDS43240.1	4q21	2013-02-25	2002-08-22	2002-08-23		ENSG00000169245		"""Endogenous ligands"""	10637	protein-coding gene	gene with protein product		147310	"""small inducible cytokine subfamily B (Cys-X-Cys), member 10"""	INP10, SCYB10		2437586, 3925348	Standard	NM_001565		Approved	IFI10, IP-10, crg-2, mob-1, C7, gIP-10	uc003hjl.4	P02778		ENST00000306602.1:c.157G>C	4.37:g.76943875C>G	ENSP00000305651:p.Ala53Pro					ART3_ENST00000341029.5_Intron	p.A53P	NM_001565.3	NP_001556.2	P02778	CXL10_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		2	222	-			53					Q96QJ5	Missense_Mutation	SNP	ENST00000306602.1	37	c.157G>C	CCDS43240.1	.	.	.	.	.	.	.	.	.	.	C	0.021	-1.424638	0.01126	.	.	ENSG00000169245	ENST00000306602	T	0.04809	3.55	4.93	2.14	0.27477	CXC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.558726	0.18129	N	0.150807	T	0.02012	0.0063	.	.	.	0.25727	N	0.985317	B	0.12630	0.006	B	0.06405	0.002	T	0.47686	-0.9098	9	0.02654	T	1	.	8.6356	0.33945	0.0:0.6033:0.3077:0.089	.	53	P02778	CXL10_HUMAN	P	53	ENSP00000305651:A53P	ENSP00000305651:A53P	A	-	1	0	CXCL10	77162899	0.995000	0.38212	0.998000	0.56505	0.084000	0.17831	0.256000	0.18351	0.288000	0.22398	-1.946000	0.00489	GCA		0.363	CXCL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362817.1			17	103	0	0	0	0.557998	0	17	103				
FAM135B	51059	broad.mit.edu	37	8	139164635	139164635	+	Missense_Mutation	SNP	C	C	A	rs374779918		TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr8:139164635C>A	ENST00000395297.1	-	13	2253	c.2083G>T	c.(2083-2085)Gtc>Ttc	p.V695F		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	695										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GACCAGGCGACGGAGCTTGGC	0.552										HNSCC(54;0.14)			C|||	1	0.000199681	0.0	0.0	5008	,	,		17620	0.0		0.0	False		,,,				2504	0.001					ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(2083-2085)Gtc>Ttc		family with sequence similarity 135, member B							53.0	54.0	54.0					8																	139164635		1930	4120	6050	SO:0001583	missense	51059							g.chr8:139164635C>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2083G>T	8.37:g.139164635C>A	ENSP00000378710:p.Val695Phe	HNSCC(54;0.14)					p.V695F	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	2253	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		695					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.2083G>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	16.49	3.139109	0.56936	.	.	ENSG00000147724	ENST00000395297	T	0.15256	2.44	5.65	4.77	0.60923	.	0.209202	0.39909	N	0.001239	T	0.21307	0.0513	L	0.47078	1.49	0.54753	D	0.999987	P;P;P	0.51449	0.945;0.776;0.453	P;B;B	0.46479	0.518;0.292;0.116	T	0.01452	-1.1351	10	0.30078	T	0.28	-16.9727	15.0655	0.71992	0.1429:0.8571:0.0:0.0	.	695;695;695	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	F	695	ENSP00000378710:V695F	ENSP00000276737:V695F	V	-	1	0	FAM135B	139233817	1.000000	0.71417	0.295000	0.24960	0.356000	0.29392	3.723000	0.54955	1.381000	0.46364	-0.182000	0.12963	GTC		0.552	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		30	97	1	0	1.32181e-22	0.717897	1.72045e-22	30	97				
OR8D4	338662	broad.mit.edu	37	11	123777296	123777296	+	Missense_Mutation	SNP	G	G	A	rs201007236		TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr11:123777296G>A	ENST00000321355.2	+	1	188	c.158G>A	c.(157-159)cGt>cAt	p.R53H		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	53						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		AGGCTGAATCGTCAACTTCAT	0.408													G|||	1	0.000199681	0.0	0.0	5008	,	,		20316	0.0		0.001	False		,,,				2504	0.0					ENST00000321355.2																			0				large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(157-159)cGt>cAt		olfactory receptor, family 8, subfamily D, member 4		G	HIS/ARG	0,4404		0,0,2202	239.0	226.0	230.0		158	2.7	0.0	11		230	6,8592	6.4+/-24.3	0,6,4293	yes	missense	OR8D4	NM_001005197.1	29	0,6,6495	AA,AG,GG		0.0698,0.0,0.0461	benign	53/315	123777296	6,12996	2202	4299	6501	SO:0001583	missense	338662				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123777296G>A	AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"""GPCR / Class A : Olfactory receptors"""	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.158G>A	11.37:g.123777296G>A	ENSP00000325381:p.Arg53His						p.R53H	NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)	1	188	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	53					Q6IFE9	Missense_Mutation	SNP	ENST00000321355.2	37	c.158G>A	CCDS31698.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	5.316	0.243565	0.10077	0.0	6.98E-4	ENSG00000181518	ENST00000321355	T	0.03772	3.81	5.67	2.74	0.32292	GPCR, rhodopsin-like superfamily (1);	0.617105	0.14430	N	0.320058	T	0.02767	0.0083	N	0.11560	0.145	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43147	-0.9409	10	0.72032	D	0.01	.	4.6122	0.12408	0.4079:0.3938:0.1272:0.071	.	53	Q8NGM9	OR8D4_HUMAN	H	53	ENSP00000325381:R53H	ENSP00000325381:R53H	R	+	2	0	OR8D4	123282506	0.000000	0.05858	0.004000	0.12327	0.122000	0.20287	0.010000	0.13242	0.315000	0.23110	-0.878000	0.02970	CGT		0.408	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387262.1	NM_001005197		58	282	0	0	0	0.870114	0	58	282				
KCNT2	343450	broad.mit.edu	37	1	196205130	196205130	+	Silent	SNP	C	C	T			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr1:196205130C>T	ENST00000294725.9	-	27	4197	c.3282G>A	c.(3280-3282)gaG>gaA	p.E1094E	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367431.4_Silent_p.E1028E|KCNT2_ENST00000367433.5_Silent_p.E1070E|KCNT2_ENST00000609185.1_Silent_p.E1027E			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1094					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CATCATTCAGCTCTATTCTGG	0.313																																						ENST00000367433.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						c.(3208-3210)gaG>gaA		potassium channel, subfamily T, member 2							208.0	218.0	215.0					1																	196205130		2203	4296	6499	SO:0001819	synonymous_variant	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196205130C>T	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.3282G>A	1.37:g.196205130C>T						KCNT2_ENST00000294725.8_Silent_p.E1094E|KCNT2_ENST00000367431.4_Silent_p.E1028E|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_3'UTR	p.E1070E			Q6UVM3	KCNT2_HUMAN			26	3311	-			1094					Q3SY59|Q5VTN1|Q6ZMT3	Silent	SNP	ENST00000294725.9	37	c.3210G>A	CCDS1384.1																																																																																				0.313	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		89	298	0	0	0	0.870114	0	89	298				
ACTL7B	10880	broad.mit.edu	37	9	111617803	111617803	+	Silent	SNP	G	G	A			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr9:111617803G>A	ENST00000374667.3	-	1	1436	c.408C>T	c.(406-408)acC>acT	p.T136T		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	136						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TCTTCATGGCGGTGCGGAAGA	0.622																																						ENST00000374667.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(406-408)acC>acT		actin-like 7B							68.0	49.0	55.0					9																	111617803		2203	4300	6503	SO:0001819	synonymous_variant	10880					actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	g.chr9:111617803G>A	BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156			162	protein-coding gene	gene with protein product		604304				10373328, 12907721	Standard	NM_006686		Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.408C>T	9.37:g.111617803G>A							p.T136T	NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN			1	1436	-			136					B2R9Q2|Q5JSV1	Silent	SNP	ENST00000374667.3	37	c.408C>T	CCDS6771.1																																																																																				0.622	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053571.1	NM_006686		32	60	0	0	0	0.740014	0	32	60				
POLI	11201	broad.mit.edu	37	18	51800403	51800403	+	Missense_Mutation	SNP	G	G	T	rs142974796	byFrequency	TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr18:51800403G>T	ENST00000579534.1	+	3	492	c.349G>T	c.(349-351)Gta>Tta	p.V117L	POLI_ENST00000579434.1_Missense_Mutation_p.V14L|POLI_ENST00000406285.3_Missense_Mutation_p.V117L|POLI_ENST00000217800.5_Missense_Mutation_p.V14L	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	117	UmuC. {ECO:0000255|PROSITE- ProRule:PRU00216}.				DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)	intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		TCCACAGTTGGTATTAGTTAA	0.348								DNA polymerases (catalytic subunits)																														ENST00000579534.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26						c.(349-351)Gta>Tta	DNA polymerases (catalytic subunits)	polymerase (DNA directed) iota							64.0	64.0	64.0					18																	51800403		2203	4300	6503	SO:0001583	missense	11201				DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding	g.chr18:51800403G>T		CCDS11954.2	18q21.1	2012-05-18			ENSG00000101751	ENSG00000101751		"""DNA polymerases"""	9182	protein-coding gene	gene with protein product		605252		RAD3OB, RAD30B		17609217	Standard	NM_007195		Approved		uc002lfj.4	Q9UNA4	OTTHUMG00000132704	ENST00000579534.1:c.349G>T	18.37:g.51800403G>T	ENSP00000462664:p.Val117Leu					POLI_ENST00000406285.3_Missense_Mutation_p.V117L|POLI_ENST00000579434.1_Missense_Mutation_p.V14L|POLI_ENST00000217800.5_Missense_Mutation_p.V14L	p.V117L	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN		Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)	3	492	+			117			UmuC.		Q8N590|Q9H0S1|Q9NYH6	Missense_Mutation	SNP	ENST00000579534.1	37	c.349G>T	CCDS11954.2	.	.	.	.	.	.	.	.	.	.	G	12.06	1.823592	0.32237	.	.	ENSG00000101751	ENST00000406285;ENST00000217800	T	0.73363	-0.74	5.86	3.14	0.36123	DNA-repair protein, UmuC-like, N-terminal (1);DNA-repair protein, UmuC-like (1);	0.000000	0.85682	D	0.000000	T	0.76090	0.3939	L	0.60455	1.87	0.54753	D	0.999988	P;P	0.41498	0.752;0.467	P;B	0.53062	0.717;0.154	T	0.70601	-0.4827	10	0.38643	T	0.18	-10.8235	6.1668	0.20394	0.2166:0.0:0.6518:0.1316	.	116;117	B7Z780;Q9UNA4	.;POLI_HUMAN	L	117	ENSP00000385196:V117L	ENSP00000217800:V117L	V	+	1	0	POLI	50054401	1.000000	0.71417	0.732000	0.30844	0.843000	0.47879	3.972000	0.56838	0.402000	0.25451	-0.136000	0.14681	GTA		0.348	POLI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256002.3	NM_007195		11	27	1	0	3.03607e-14	0.411799	3.66115e-14	11	27				
APOBEC3D	140564	broad.mit.edu	37	22	39427930	39427930	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr22:39427930T>C	ENST00000216099.8	+	6	1401	c.994T>C	c.(994-996)Tgc>Cgc	p.C332R	APOBEC3D_ENST00000427494.2_Missense_Mutation_p.C148R|APOBEC3D_ENST00000381568.4_Missense_Mutation_p.C332R	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	332					defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					GGAGGGGCTCTGCAGCCTGAG	0.617																																						ENST00000216099.7																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11						c.(994-996)Tgc>Cgc		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D							77.0	73.0	74.0					22																	39427930		1568	3582	5150	SO:0001583	missense	140564				negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding	g.chr22:39427930T>C	BF832090	CCDS46709.1	22q13.1	2012-10-19	2008-05-01		ENSG00000243811	ENSG00000243811		"""Apolipoprotein B mRNA editing enzymes"""	17354	protein-coding gene	gene with protein product		609900	"""apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (putative)"", ""apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3E pseudogene"""	APOBEC3E		11863358	Standard	NM_152426		Approved	ARP6, APOBEC3DE	uc003awt.4	Q96AK3	OTTHUMG00000151084	ENST00000216099.8:c.994T>C	22.37:g.39427930T>C	ENSP00000216099:p.Cys332Arg					APOBEC3D_ENST00000427494.2_Missense_Mutation_p.C148R|APOBEC3D_ENST00000381568.4_Missense_Mutation_p.C332R	p.C332R	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN			6	1401	+	Melanoma(58;0.04)		332					Q5JZ91|Q7Z2N2|Q7Z2N5|Q7Z2N6	Missense_Mutation	SNP	ENST00000216099.8	37	c.994T>C	CCDS46709.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.555936	0.00138	.	.	ENSG00000243811	ENST00000381568;ENST00000216099;ENST00000427494	T;T;T	0.56444	0.46;0.46;0.46	1.84	-3.69	0.04450	APOBEC-like, C-terminal (1);Cytidine deaminase-like (1);	.	.	.	.	T	0.15825	0.0381	N	0.01779	-0.725	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.21348	-1.0248	9	0.02654	T	1	.	2.8517	0.05560	0.2141:0.2781:0.0:0.5078	.	148;332	Q6ICH2;Q96AK3	.;ABC3D_HUMAN	R	332;332;148	ENSP00000370980:C332R;ENSP00000216099:C332R;ENSP00000388017:C148R	ENSP00000216099:C332R	C	+	1	0	APOBEC3D	37757876	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.799000	0.04560	-1.049000	0.03234	-0.552000	0.04208	TGC		0.617	APOBEC3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321232.2	NM_152426		11	139	0	0	0	0.624587	0	11	139				
ESM1	11082	broad.mit.edu	37	5	54275232	54275232	+	Silent	SNP	A	A	G			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr5:54275232A>G	ENST00000381405.4	-	3	628	c.483T>C	c.(481-483)atT>atC	p.I161I	ESM1_ENST00000381403.4_Silent_p.I111I|ESM1_ENST00000598310.1_5'UTR	NM_007036.4	NP_008967.1	Q9NQ30	ESM1_HUMAN	endothelial cell-specific molecule 1	161					angiogenesis (GO:0001525)|positive regulation of cell proliferation (GO:0008284)|positive regulation of hepatocyte growth factor receptor signaling pathway (GO:1902204)|regulation of cell growth (GO:0001558)|sprouting angiogenesis (GO:0002040)	extracellular region (GO:0005576)	hepatocyte growth factor receptor binding (GO:0005171)|integrin binding (GO:0005178)			breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			CTTCTCTCACAATATTGCCAT	0.433																																						ENST00000381405.4																			0				breast(1)|kidney(1)|large_intestine(4)|lung(4)	10						c.(481-483)atT>atC		endothelial cell-specific molecule 1							136.0	134.0	135.0					5																	54275232		2203	4300	6503	SO:0001819	synonymous_variant	11082				angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding	g.chr5:54275232A>G	X89426	CCDS3963.1, CCDS47206.1	5q11	2008-02-05			ENSG00000164283	ENSG00000164283			3466	protein-coding gene	gene with protein product		601521				8702785	Standard	NM_001135604		Approved		uc003jpk.3	Q9NQ30	OTTHUMG00000097010	ENST00000381405.4:c.483T>C	5.37:g.54275232A>G						ESM1_ENST00000598310.1_5'UTR|ESM1_ENST00000381403.4_Silent_p.I111I	p.I161I	NM_007036.4	NP_008967.1	Q9NQ30	ESM1_HUMAN	Lung(15;0.23)		3	628	-		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	161					B2R4G3|Q15330|Q3V4E3|Q96ES3	Silent	SNP	ENST00000381405.4	37	c.483T>C	CCDS3963.1																																																																																				0.433	ESM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214099.2	NM_007036		19	134	0	0	0	0.557998	0	19	134				
FOXC2	2303	broad.mit.edu	37	16	86601397	86601397	+	Silent	SNP	C	C	A			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr16:86601397C>A	ENST00000320354.4	+	1	541	c.456C>A	c.(454-456)tcC>tcA	p.S152S	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	152					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|embryonic viscerocranium morphogenesis (GO:0048703)|glomerular endothelium development (GO:0072011)|glomerular mesangial cell development (GO:0072144)|glomerular visceral epithelial cell differentiation (GO:0072112)|heart development (GO:0007507)|insulin receptor signaling pathway (GO:0008286)|lymphangiogenesis (GO:0001946)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|paraxial mesodermal cell fate commitment (GO:0048343)|patterning of blood vessels (GO:0001569)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular wound healing (GO:0035470)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|response to hormone (GO:0009725)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						ACCCGGACTCCTACAACATGT	0.627									Late-onset Hereditary Lymphedema																													ENST00000320354.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						c.(454-456)tcC>tcA		forkhead box C2 (MFH-1, mesenchyme forkhead 1)							51.0	62.0	58.0					16																	86601397		2198	4300	6498	SO:0001819	synonymous_variant	2303	Late-onset Hereditary Lymphedema	Familial Cancer Database	Hereditary Lymphedema type II, Meige Lymphedema	anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr16:86601397C>A	Y08223	CCDS10958.1	16q24.1	2008-04-10			ENSG00000176692	ENSG00000176692		"""Forkhead boxes"""	3801	protein-coding gene	gene with protein product		602402		FKHL14		9169153, 8674414	Standard	NM_005251		Approved	MFH-1	uc002fjq.3	Q99958	OTTHUMG00000137652	ENST00000320354.4:c.456C>A	16.37:g.86601397C>A							p.S152S	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN			1	541	+			152					C6KMR9|Q14DA6	Silent	SNP	ENST00000320354.4	37	c.456C>A	CCDS10958.1																																																																																				0.627	FOXC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269104.2	NM_005251		30	98	1	0	1.74807e-11	0.750413	2.06247e-11	30	98				
MARK1	4139	broad.mit.edu	37	1	220825399	220825399	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr1:220825399G>T	ENST00000366917.4	+	15	1909	c.1643G>T	c.(1642-1644)cGa>cTa	p.R548L	MARK1_ENST00000402574.1_Missense_Mutation_p.R413L|MARK1_ENST00000366918.4_Missense_Mutation_p.R526L					MAP/microtubule affinity-regulating kinase 1											central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		CCCTCAGCACGACCCCGCCAC	0.512																																						ENST00000402574.1																			0				central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63						c.(1237-1239)cGa>cTa		MAP/microtubule affinity-regulating kinase 1							107.0	98.0	101.0					1																	220825399		2203	4300	6503	SO:0001583	missense	4139				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:220825399G>T	AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.1643G>T	1.37:g.220825399G>T	ENSP00000355884:p.Arg548Leu					MARK1_ENST00000366917.4_Missense_Mutation_p.R548L|MARK1_ENST00000366918.4_Missense_Mutation_p.R526L	p.R413L	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN		GBM - Glioblastoma multiforme(131;0.0407)	15	2240	+			548						Missense_Mutation	SNP	ENST00000366917.4	37	c.1238G>T	CCDS31029.2	.	.	.	.	.	.	.	.	.	.	G	22.2	4.259001	0.80246	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	T;T;T	0.38077	1.16;1.16;1.16	5.95	5.95	0.96441	.	0.000000	0.64402	D	0.000001	T	0.43055	0.1230	M	0.73598	2.24	0.80722	D	1	B;B;B;B	0.26512	0.008;0.005;0.151;0.013	B;B;B;B	0.23275	0.003;0.003;0.045;0.013	T	0.26710	-1.0095	10	0.25106	T	0.35	.	20.3747	0.98911	0.0:0.0:1.0:0.0	.	548;413;548;526	B4DIB3;Q9P0L2-2;Q9P0L2;Q9P0L2-3	.;.;MARK1_HUMAN;.	L	413;526;548	ENSP00000386017:R413L;ENSP00000355885:R526L;ENSP00000355884:R548L	ENSP00000355884:R548L	R	+	2	0	MARK1	218892022	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.583000	0.82559	2.817000	0.96982	0.563000	0.77884	CGA		0.512	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1			20	116	1	0	0.00152264	0.592651	0.00163211	20	116				
ALPK2	115701	broad.mit.edu	37	18	56246569	56246569	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr18:56246569G>A	ENST00000361673.3	-	4	1652	c.1439C>T	c.(1438-1440)gCc>gTc	p.A480V	ALPK2_ENST00000587399.1_5'Flank	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	480						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						ATTGTCACTGGCAAATTCCTC	0.478											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000361673.3																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(1438-1440)gCc>gTc		alpha-kinase 2							149.0	150.0	149.0					18																	56246569		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56246569G>A	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.1439C>T	18.37:g.56246569G>A	ENSP00000354991:p.Ala480Val		OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1014		p.A480V	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			4	1652	-			480					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.1439C>T	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	G	11.87	1.768381	0.31320	.	.	ENSG00000198796	ENST00000361673	T	0.54279	0.58	5.21	4.31	0.51392	.	1.641830	0.04215	N	0.332551	T	0.44456	0.1294	L	0.47716	1.5	0.09310	N	1	P	0.40731	0.728	B	0.27887	0.084	T	0.43163	-0.9408	10	0.62326	D	0.03	-0.2961	8.823	0.35039	0.0795:0.152:0.7685:0.0	.	480	Q86TB3	ALPK2_HUMAN	V	480	ENSP00000354991:A480V	ENSP00000354991:A480V	A	-	2	0	ALPK2	54397549	0.038000	0.19896	0.014000	0.15608	0.680000	0.39746	1.979000	0.40608	1.140000	0.42260	0.561000	0.74099	GCC		0.478	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		4	209	0	0	0	0.150653	0	4	209				
SCAI	286205	broad.mit.edu	37	9	127765428	127765428	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr9:127765428T>A	ENST00000336505.6	-	11	1088	c.1030A>T	c.(1030-1032)Agc>Tgc	p.S344C	SCAI_ENST00000373549.4_Missense_Mutation_p.S367C|SCAI_ENST00000487795.1_5'UTR	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	344					negative regulation of cell migration (GO:0030336)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						TATAGCTGGCTGAAGGTTGGT	0.383																																						ENST00000336505.5																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						c.(1030-1032)Agc>Tgc		suppressor of cancer cell invasion							257.0	240.0	245.0					9																	127765428		1855	4098	5953	SO:0001583	missense	286205				negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity	g.chr9:127765428T>A	AK093983	CCDS43877.1, CCDS48017.1	9q34.11	2009-11-06	2009-07-09	2009-07-09	ENSG00000173611	ENSG00000173611			26709	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 126"""	C9orf126			Standard	NM_173690		Approved	FLJ36664, NET40	uc004bpd.3	Q8N9R8	OTTHUMG00000020667	ENST00000336505.6:c.1030A>T	9.37:g.127765428T>A	ENSP00000336756:p.Ser344Cys					SCAI_ENST00000487795.1_5'UTR|SCAI_ENST00000373549.4_Missense_Mutation_p.S367C	p.S344C	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN			11	1088	-			344					Q3SXZ1|Q3SXZ2|Q5T163|Q8N1I4	Missense_Mutation	SNP	ENST00000336505.6	37	c.1030A>T	CCDS48017.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.451995	0.84209	.	.	ENSG00000173611	ENST00000336505;ENST00000373549	T;T	0.50277	0.75;0.75	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.70500	0.3231	M	0.81942	2.565	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.994	T	0.74799	-0.3542	10	0.72032	D	0.01	-10.6067	15.3961	0.74794	0.0:0.0:0.0:1.0	.	344;367	Q8N9R8;Q8N9R8-2	SCAI_HUMAN;.	C	344;367	ENSP00000336756:S344C;ENSP00000362650:S367C	ENSP00000336756:S344C	S	-	1	0	SCAI	126805249	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	7.698000	0.84413	2.234000	0.73211	0.459000	0.35465	AGC		0.383	SCAI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054055.3	NM_173690		193	340	0	0	0	0.870114	0	193	340				
CAPN15	6650	broad.mit.edu	37	16	602492	602492	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr16:602492A>T	ENST00000219611.2	+	11	3062	c.2699A>T	c.(2698-2700)cAc>cTc	p.H900L	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	900					proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GCCTTCAACCACTGGGGGCCG	0.706																																						ENST00000219611.2																			0											c.(2698-2700)cAc>cTc		calpain 15							15.0	20.0	18.0					16																	602492		2139	4276	6415	SO:0001583	missense	6650							g.chr16:602492A>T	U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"""small optic lobes (Drosophila) homolog"", ""small optic lobes homolog (Drosophila)"""	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.2699A>T	16.37:g.602492A>T	ENSP00000219611:p.His900Leu					LA16c-366D1.3_ENST00000565879.1_RNA	p.H900L	NM_005632.2	NP_005623.1					11	3062	+								B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Missense_Mutation	SNP	ENST00000219611.2	37	c.2699A>T	CCDS10410.1	.	.	.	.	.	.	.	.	.	.	a	19.00	3.742103	0.69418	.	.	ENSG00000103326	ENST00000219611	D	0.89875	-2.58	4.97	4.97	0.65823	.	0.099263	0.64402	D	0.000002	D	0.93174	0.7826	M	0.68317	2.08	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.93849	0.7143	10	0.87932	D	0	.	13.6723	0.62432	1.0:0.0:0.0:0.0	.	900	O75808	CAN15_HUMAN	L	900	ENSP00000219611:H900L	ENSP00000219611:H900L	H	+	2	0	SOLH	542493	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	6.851000	0.75425	2.103000	0.63969	0.450000	0.29827	CAC		0.706	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239271.1	NM_005632		8	24	0	0	0	0.307466	0	8	24				
MED12L	116931	broad.mit.edu	37	3	151129183	151129183	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr3:151129183G>A	ENST00000474524.1	+	39	5961	c.5923G>A	c.(5923-5925)Gca>Aca	p.A1975T	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1975	Gln-rich.					mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTATCCGGCCGCACATTCCAA	0.572																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(5923-5925)Gca>Aca		mediator complex subunit 12-like							93.0	88.0	90.0					3																	151129183		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151129183G>A	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.5923G>A	3.37:g.151129183G>A	ENSP00000417235:p.Ala1975Thr					MED12L_ENST00000273432.4_Intron	p.A1975T	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		39	5961	+			1975			Gln-rich.		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.5923G>A	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	G	3.420	-0.118393	0.06838	.	.	ENSG00000144893	ENST00000474524	T	0.56444	0.46	5.75	-2.08	0.07254	Mediator complex, subunit Med12, catenin-binding (1);	0.524287	0.22060	N	0.065195	T	0.16727	0.0402	N	0.02142	-0.665	0.28485	N	0.914745	B	0.13145	0.007	B	0.09377	0.004	T	0.29941	-0.9995	10	0.08599	T	0.76	-2.7763	5.7809	0.18306	0.4389:0.0:0.4404:0.1207	.	1975	Q86YW9	MD12L_HUMAN	T	1975	ENSP00000417235:A1975T	ENSP00000417235:A1975T	A	+	1	0	MED12L	152611873	0.000000	0.05858	0.008000	0.14137	0.644000	0.38419	-0.161000	0.10026	-0.135000	0.11495	-0.145000	0.13849	GCA		0.572	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		4	164	0	0	0	0.150653	0	4	164				
SLC6A12	6539	broad.mit.edu	37	12	306025	306025	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr12:306025A>C	ENST00000428720.1	-	11	1842	c.1099T>G	c.(1099-1101)Ttc>Gtc	p.F367V	SLC6A12_ENST00000359674.4_Missense_Mutation_p.F367V|RP11-283I3.1_ENST00000544067.1_RNA|SLC6A12_ENST00000536824.1_Missense_Mutation_p.F367V|SLC6A12_ENST00000397296.2_Missense_Mutation_p.F367V|SLC6A12_ENST00000424061.2_Missense_Mutation_p.F367V|SLC6A12_ENST00000538272.1_5'Flank	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	367					amino acid transport (GO:0006865)|cellular hyperosmotic response (GO:0071474)|cellular water homeostasis (GO:0009992)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|response to organic substance (GO:0010033)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			GCCTTGGGGAAGGCGATGAAG	0.582																																						ENST00000428720.1																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26						c.(1099-1101)Ttc>Gtc		solute carrier family 6 (neurotransmitter transporter), member 12							106.0	96.0	99.0					12																	306025		2203	4300	6503	SO:0001583	missense	6539				cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:306025A>C	L42300	CCDS8501.1	12p13	2013-07-19	2013-07-19		ENSG00000111181	ENSG00000111181		"""Solute carriers"""	11045	protein-coding gene	gene with protein product	"""betaine/GABA transporter-1"""	603080	"""solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12"""			7589472	Standard	NM_003044		Approved	BGT-1	uc009zdh.2	P48065	OTTHUMG00000090309	ENST00000428720.1:c.1099T>G	12.37:g.306025A>C	ENSP00000388184:p.Phe367Val					SLC6A12_ENST00000536824.1_Missense_Mutation_p.F367V|SLC6A12_ENST00000397296.2_Missense_Mutation_p.F367V|SLC6A12_ENST00000359674.4_Missense_Mutation_p.F367V|SLC6A12_ENST00000424061.2_Missense_Mutation_p.F367V	p.F367V	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00227)		11	1842	-	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		367					A0AV52|B2R992|D3DUN8	Missense_Mutation	SNP	ENST00000428720.1	37	c.1099T>G	CCDS8501.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.580753	0.86748	.	.	ENSG00000111181	ENST00000359674;ENST00000397296;ENST00000428720;ENST00000424061;ENST00000536824	T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22	4.26	4.26	0.50523	.	0.067703	0.64402	D	0.000013	D	0.85287	0.5662	M	0.73319	2.225	0.47778	D	0.999514	P	0.42973	0.796	P	0.58780	0.845	D	0.87135	0.2199	10	0.87932	D	0	.	13.5481	0.61715	1.0:0.0:0.0:0.0	.	367	P48065	S6A12_HUMAN	V	367	ENSP00000352702:F367V;ENSP00000380464:F367V;ENSP00000388184:F367V;ENSP00000399136:F367V;ENSP00000444268:F367V	ENSP00000352702:F367V	F	-	1	0	SLC6A12	176286	1.000000	0.71417	0.912000	0.35992	0.817000	0.46193	9.023000	0.93683	1.782000	0.52362	0.391000	0.25812	TTC		0.582	SLC6A12-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206671.2	NM_003044		14	73	0	0	0	0.435327	0	14	73				
MARCH7	64844	broad.mit.edu	37	2	160604745	160604745	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr2:160604745A>T	ENST00000259050.4	+	5	1066	c.944A>T	c.(943-945)tAc>tTc	p.Y315F	MARCH7_ENST00000409591.1_Missense_Mutation_p.Y277F|MARCH7_ENST00000539065.1_Missense_Mutation_p.Y259F|MARCH7_ENST00000409175.1_Missense_Mutation_p.Y315F	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	315	Ser-rich.				protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						GAAAATTCTTACGTTTCTCCA	0.398																																						ENST00000259050.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						c.(943-945)tAc>tTc		membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase							54.0	57.0	56.0					2																	160604745		2203	4300	6503	SO:0001583	missense	64844						ligase activity|zinc ion binding	g.chr2:160604745A>T	AK022973	CCDS2210.1, CCDS63038.1, CCDS63039.1	2q24.2	2013-01-09	2012-02-23	2005-01-27	ENSG00000136536	ENSG00000136536		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	17393	protein-coding gene	gene with protein product		613334	"""axotrophin"", ""membrane-associated ring finger (C3HC4) 7"""	AXOT		14722266	Standard	XM_005246773		Approved	MARCH-VII, RNF177	uc002uax.3	Q9H992	OTTHUMG00000132029	ENST00000259050.4:c.944A>T	2.37:g.160604745A>T	ENSP00000259050:p.Tyr315Phe					MARCH7_ENST00000409591.1_Missense_Mutation_p.Y277F|MARCH7_ENST00000409175.1_Missense_Mutation_p.Y315F|MARCH7_ENST00000539065.1_Missense_Mutation_p.Y259F	p.Y315F	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN			5	1066	+			315			Ser-rich.		A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9	Missense_Mutation	SNP	ENST00000259050.4	37	c.944A>T	CCDS2210.1	.	.	.	.	.	.	.	.	.	.	A	2.941	-0.218811	0.06101	.	.	ENSG00000136536	ENST00000409175;ENST00000539065;ENST00000259050;ENST00000409591	T;T;T;T	0.11821	2.75;2.74;2.75;2.74	5.88	3.29	0.37713	.	0.408437	0.28052	N	0.016788	T	0.05686	0.0149	N	0.11560	0.145	0.09310	N	1	B;B;B	0.11235	0.004;0.001;0.001	B;B;B	0.11329	0.006;0.002;0.001	T	0.40701	-0.9549	10	0.11794	T	0.64	-3.5757	6.3172	0.21196	0.5715:0.2483:0.0:0.1801	.	259;277;315	F5H6W4;B7Z7P5;Q9H992	.;.;MARH7_HUMAN	F	315;259;315;277	ENSP00000386830:Y315F;ENSP00000442992:Y259F;ENSP00000259050:Y315F;ENSP00000387238:Y277F	ENSP00000259050:Y315F	Y	+	2	0	MARCH7	160312991	0.000000	0.05858	0.882000	0.34594	0.788000	0.44548	-0.005000	0.12855	2.239000	0.73571	0.533000	0.62120	TAC		0.398	MARCH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255040.3	NM_022826		26	94	0	0	0	0.693898	0	26	94				
EPHA2	1969	broad.mit.edu	37	1	16475542	16475542	+	Splice_Site	SNP	A	A	C			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr1:16475542A>C	ENST00000358432.5	-	3	308	c.154T>G	c.(154-156)Tgg>Ggg	p.W52G	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	52	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.|Mediates interaction with CLDN4.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	ATCAGGTCCCACTGTGGGGGG	0.557																																						ENST00000358432.5																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.e3-1		EPH receptor A2	Dasatinib(DB01254)						58.0	52.0	54.0					1																	16475542		2203	4300	6503	SO:0001630	splice_region_variant	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16475542A>C	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.154-1T>G	1.37:g.16475542A>C						EPHA2_ENST00000461614.1_5'UTR	p.W52_splice	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	3	308	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	52					B5A968|Q8N3Z2	Splice_Site	SNP	ENST00000358432.5	37	c.153_splice	CCDS169.1	.	.	.	.	.	.	.	.	.	.	A	19.40	3.819588	0.71028	.	.	ENSG00000142627	ENST00000358432	T	0.19938	2.11	5.35	5.35	0.76521	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.52532	D	0.000068	T	0.54351	0.1853	M	0.91972	3.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.65109	-0.6248	10	0.87932	D	0	.	13.2736	0.60175	1.0:0.0:0.0:0.0	.	52;52	B5A968;P29317	.;EPHA2_HUMAN	G	52	ENSP00000351209:W52G	ENSP00000351209:W52G	W	-	1	0	EPHA2	16348129	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	9.335000	0.96500	2.024000	0.59613	0.459000	0.35465	TGG		0.557	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431	Missense_Mutation	11	58	0	0	0	0.361761	0	11	58				
FOXP4	116113	broad.mit.edu	37	6	41565600	41565600	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr6:41565600C>A	ENST00000307972.4	+	15	1819	c.1807C>A	c.(1807-1809)Ctc>Atc	p.L603I	FOXP4_ENST00000373060.1_Missense_Mutation_p.L603I|FOXP4_ENST00000409208.1_Missense_Mutation_p.L591I|FOXP4_ENST00000373063.3_Missense_Mutation_p.L590I|MIR4641_ENST00000578353.1_RNA|FOXP4_ENST00000373057.3_Missense_Mutation_p.L601I			Q8IVH2	FOXP4_HUMAN	forkhead box P4	603					embryonic foregut morphogenesis (GO:0048617)|heart development (GO:0007507)|lung secretory cell differentiation (GO:0061140)|negative regulation of lung goblet cell differentiation (GO:1901250)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					CCTGCTGCCCCTCAGCCACGA	0.706											OREG0004068	type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000373060.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16						c.(1807-1809)Ctc>Atc		forkhead box P4							14.0	14.0	14.0					6																	41565600		2188	4279	6467	SO:0001583	missense	116113				embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr6:41565600C>A	AB080747	CCDS4856.1, CCDS34447.1, CCDS34448.1	6p21.1	2008-02-05			ENSG00000137166	ENSG00000137166		"""Forkhead boxes"""	20842	protein-coding gene	gene with protein product		608924					Standard	XM_006714991		Approved	FLJ40908	uc003oql.3	Q8IVH2	OTTHUMG00000014679	ENST00000307972.4:c.1807C>A	6.37:g.41565600C>A	ENSP00000309823:p.Leu603Ile		OREG0004068	type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	902	FOXP4_ENST00000307972.4_Missense_Mutation_p.L603I|FOXP4_ENST00000373057.3_Missense_Mutation_p.L601I|FOXP4_ENST00000409208.1_Missense_Mutation_p.L591I|FOXP4_ENST00000373063.3_Missense_Mutation_p.L590I	p.L603I	NM_001012426.1|NM_001012427.1	NP_001012426.1|NP_001012427.1	Q8IVH2	FOXP4_HUMAN			16	2265	+	Ovarian(28;0.0327)|Colorectal(47;0.196)		603					Q5W098|Q7Z7F8|Q8IW55|Q96E19	Missense_Mutation	SNP	ENST00000307972.4	37	c.1807C>A	CCDS34447.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.314652	0.40996	.	.	ENSG00000137166	ENST00000373060;ENST00000373063;ENST00000409208;ENST00000373057;ENST00000307972	D;D;D;D;D	0.90324	-2.65;-2.64;-2.64;-2.65;-2.65	3.46	3.46	0.39613	.	0.197347	0.31909	N	0.006876	T	0.74642	0.3743	L	0.34521	1.04	0.29367	N	0.864276	B;B;B	0.20780	0.002;0.002;0.048	B;B;B	0.14023	0.001;0.001;0.01	T	0.67047	-0.5769	10	0.36615	T	0.2	.	10.4112	0.44294	0.0:0.6166:0.3834:0.0	.	590;601;603	Q8IW55;Q7Z7F8;Q8IVH2	.;.;FOXP4_HUMAN	I	603;590;591;601;603	ENSP00000362151:L603I;ENSP00000362154:L590I;ENSP00000386958:L591I;ENSP00000362148:L601I;ENSP00000309823:L603I	ENSP00000309823:L603I	L	+	1	0	FOXP4	41673578	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	2.534000	0.45676	1.949000	0.56562	0.462000	0.41574	CTC		0.706	FOXP4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000106767.1	NM_138457		3	13	1	0	0.115264	0.115264	0.119641	3	13				
EML4	27436	broad.mit.edu	37	2	42557100	42557100	+	Missense_Mutation	SNP	C	C	G	rs201541248		TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr2:42557100C>G	ENST00000318522.5	+	23	2961	c.2699C>G	c.(2698-2700)cCg>cGg	p.P900R	EML4_ENST00000401738.3_Missense_Mutation_p.P911R|EML4_ENST00000402711.2_Missense_Mutation_p.P842R|EML4_ENST00000453191.2_Missense_Mutation_p.P164R	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	900					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)		p.P900L(1)	EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						ACTCCCACACCGCCTCCTTCT	0.473			T	ALK	NSCLC																																	ENST00000318522.5				Dom	yes		2	2p21	27436	T	echinoderm microtubule associated protein like 4			E	ALK		NSCLC	EML4/ALK(543)	1	Substitution - Missense(1)	p.P900L(1)	endometrium(1)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						c.(2698-2700)cCg>cGg		echinoderm microtubule associated protein like 4							112.0	106.0	108.0					2																	42557100		2203	4300	6503	SO:0001583	missense	27436				microtubule-based process|mitosis	cytoplasm|microtubule	protein binding	g.chr2:42557100C>G	AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"""WD repeat domain containing"""	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.2699C>G	2.37:g.42557100C>G	ENSP00000320663:p.Pro900Arg					EML4_ENST00000401738.3_Missense_Mutation_p.P911R|EML4_ENST00000453191.2_Missense_Mutation_p.P164R|EML4_ENST00000402711.2_Missense_Mutation_p.P842R	p.P900R	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN			23	2961	+			900					A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Missense_Mutation	SNP	ENST00000318522.5	37	c.2699C>G	CCDS1807.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.650646	0.47362	.	.	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738;ENST00000453191	T;T;D;T	0.97850	1.06;1.12;-4.57;0.82	5.67	1.84	0.25277	.	0.902819	0.09759	N	0.759521	D	0.92756	0.7697	N	0.24115	0.695	0.09310	N	1	B;B;B;B	0.33413	0.081;0.161;0.411;0.081	B;B;B;B	0.32724	0.112;0.151;0.151;0.103	D	0.85869	0.1415	10	0.22706	T	0.39	9.0E-4	4.5621	0.12165	0.1534:0.5992:0.0:0.2474	.	842;842;911;900	A6H8Y6;B5MCW9;B5MBZ0;Q9HC35	.;.;.;EMAL4_HUMAN	R	900;842;911;164	ENSP00000320663:P900R;ENSP00000385059:P842R;ENSP00000384939:P911R;ENSP00000400590:P164R	ENSP00000320663:P900R	P	+	2	0	EML4	42410604	0.000000	0.05858	0.001000	0.08648	0.758000	0.43043	-0.177000	0.09796	0.054000	0.16065	0.655000	0.94253	CCG		0.473	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250463.3	NM_019063		33	133	0	0	0	0.750413	0	33	133				
RYR2	6262	broad.mit.edu	37	1	237870464	237870464	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr1:237870464A>T	ENST00000366574.2	+	68	10113	c.9796A>T	c.(9796-9798)Aca>Tca	p.T3266S	RYR2_ENST00000542537.1_Missense_Mutation_p.T3250S|RYR2_ENST00000360064.6_Missense_Mutation_p.T3264S|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3266					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GATGTGCTGCACAGCCCTGAA	0.478																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(9796-9798)Aca>Tca		ryanodine receptor 2 (cardiac)							65.0	64.0	64.0					1																	237870464		2038	4185	6223	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237870464A>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.9796A>T	1.37:g.237870464A>T	ENSP00000355533:p.Thr3266Ser					RYR2_ENST00000542537.1_Missense_Mutation_p.T3250S|RYR2_ENST00000360064.6_Missense_Mutation_p.T3264S	p.T3266S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		68	10113	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3266					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.9796A>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	11.40	1.628369	0.28978	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	T;D;T	0.97731	-0.12;-4.51;-0.12	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000004	D	0.96185	0.8756	L	0.55743	1.74	0.80722	D	1	B	0.20887	0.049	B	0.19946	0.027	D	0.94087	0.7349	10	0.46703	T	0.11	-11.3535	16.0156	0.80439	1.0:0.0:0.0:0.0	.	3266	Q92736	RYR2_HUMAN	S	3266;3264;3250;221	ENSP00000355533:T3266S;ENSP00000353174:T3264S;ENSP00000443798:T3250S	ENSP00000353174:T3264S	T	+	1	0	RYR2	235937087	1.000000	0.71417	0.704000	0.30370	0.274000	0.26718	7.362000	0.79507	2.189000	0.69895	0.533000	0.62120	ACA		0.478	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		11	60	0	0	0	0.361761	0	11	60				
UNC13C	440279	broad.mit.edu	37	15	54919300	54919300	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr15:54919300G>T	ENST00000260323.11	+	32	6634	c.6634G>T	c.(6634-6636)Gag>Tag	p.E2212*	UNC13C_ENST00000537900.1_Nonsense_Mutation_p.E2210*|UNC13C_ENST00000539562.2_Nonsense_Mutation_p.E133*|UNC13C_ENST00000545554.1_Nonsense_Mutation_p.E2212*	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	2212					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ATCTACTGAAGAGAGTGCTTG	0.353																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(6634-6636)Gag>Tag		unc-13 homolog C (C. elegans)							65.0	60.0	61.0					15																	54919300		1875	4108	5983	SO:0001587	stop_gained	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54919300G>T	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.6634G>T	15.37:g.54919300G>T	ENSP00000260323:p.Glu2212*					UNC13C_ENST00000537900.1_Nonsense_Mutation_p.E2210*|UNC13C_ENST00000260323.11_Nonsense_Mutation_p.E2212*|UNC13C_ENST00000539562.2_Nonsense_Mutation_p.E133*	p.E2212*			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	32	6634	+			2212					Q0P613|Q8ND48|Q96NP3	Nonsense_Mutation	SNP	ENST00000260323.11	37	c.6634G>T	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	46	12.802547	0.99697	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900;ENST00000539562	.	.	.	5.72	5.72	0.89469	.	0.051244	0.85682	D	0.000000	.	.	.	.	.	.	0.42761	D	0.993808	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	18.8767	0.92341	0.0:0.0:1.0:0.0	.	.	.	.	X	2212;2212;2210;133	.	ENSP00000260323:E2212X	E	+	1	0	UNC13C	52706592	1.000000	0.71417	0.999000	0.59377	0.935000	0.57460	7.920000	0.87521	2.700000	0.92200	0.563000	0.77884	GAG		0.353	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		12	28	1	0	1.08611e-07	0.387290	1.23696e-07	12	28				
TCP11L2	255394	broad.mit.edu	37	12	106717343	106717343	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr12:106717343A>G	ENST00000299045.3	+	6	865	c.691A>G	c.(691-693)Atg>Gtg	p.M231V	TCP11L2_ENST00000546625.1_Missense_Mutation_p.M231V|TCP11L2_ENST00000547153.1_Missense_Mutation_p.M231V|TCP11L2_ENST00000552690.1_3'UTR	NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	231										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						TTTTACAATTATGAGTCTCAG	0.363																																						ENST00000546625.1																			0				endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						c.(691-693)Atg>Gtg		t-complex 11, testis-specific-like 2							54.0	57.0	56.0					12																	106717343		2203	4300	6503	SO:0001583	missense	255394							g.chr12:106717343A>G	BC033617	CCDS9104.1, CCDS66456.1	12q23.3	2014-08-12	2012-09-20		ENSG00000166046	ENSG00000166046			28627	protein-coding gene	gene with protein product			"""t-complex 11 (mouse) like 2"", ""t-complex 11 (mouse)-like 2"""				Standard	XM_005268769		Approved	MGC40368	uc001tln.3	Q8N4U5	OTTHUMG00000170087	ENST00000299045.3:c.691A>G	12.37:g.106717343A>G	ENSP00000299045:p.Met231Val					TCP11L2_ENST00000552690.1_3'UTR|TCP11L2_ENST00000547153.1_Missense_Mutation_p.M231V|TCP11L2_ENST00000299045.3_Missense_Mutation_p.M231V	p.M231V			Q8N4U5	T11L2_HUMAN			6	850	+			231					B2RA65|G3V1Y9	Missense_Mutation	SNP	ENST00000299045.3	37	c.691A>G	CCDS9104.1	.	.	.	.	.	.	.	.	.	.	A	10.34	1.323637	0.24080	.	.	ENSG00000166046	ENST00000547153;ENST00000299045;ENST00000546625;ENST00000553098	T;T;T;T	0.11169	2.8;2.8;2.8;2.8	5.76	1.88	0.25563	.	0.421533	0.26907	N	0.021886	T	0.06872	0.0175	N	0.08118	0	0.09310	N	1	B;B;B	0.12630	0.001;0.006;0.001	B;B;B	0.12837	0.0;0.003;0.008	T	0.26883	-1.0090	10	0.45353	T	0.12	-1.2834	16.9531	0.86251	0.3682:0.6318:0.0:0.0	.	231;231;231	Q8N4U5;G3V1Y9;G3V1Z2	T11L2_HUMAN;.;.	V	231	ENSP00000448952:M231V;ENSP00000299045:M231V;ENSP00000449123:M231V;ENSP00000448629:M231V	ENSP00000299045:M231V	M	+	1	0	TCP11L2	105241473	0.000000	0.05858	0.224000	0.23877	0.929000	0.56500	0.072000	0.14617	0.071000	0.16664	0.533000	0.62120	ATG		0.363	TCP11L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407206.1	NM_152772		15	79	0	0	0	0.479597	0	15	79				
PIK3R5	23533	broad.mit.edu	37	17	8792082	8792082	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr17:8792082G>A	ENST00000447110.1	-	10	1146	c.1022C>T	c.(1021-1023)gCc>gTc	p.A341V	PIK3R5_ENST00000584803.1_Missense_Mutation_p.A341V|PIK3R5_ENST00000581552.1_Missense_Mutation_p.A341V	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	341				DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121). {ECO:0000305}.	blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						ATCTCTCTCGGCACAGTGCCC	0.617																																					NSCLC(18;589 615 7696 20311 50332)	ENST00000447110.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						c.(1021-1023)gCc>gTc		phosphoinositide-3-kinase, regulatory subunit 5							110.0	105.0	107.0					17																	8792082		2203	4300	6503	SO:0001583	missense	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8792082G>A	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.1022C>T	17.37:g.8792082G>A	ENSP00000392812:p.Ala341Val					PIK3R5_ENST00000584803.1_Missense_Mutation_p.A341V|PIK3R5_ENST00000581552.1_Missense_Mutation_p.A341V	p.A341V	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN			10	1146	-			341	DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121).				B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	ENST00000447110.1	37	c.1022C>T	CCDS11147.1	.	.	.	.	.	.	.	.	.	.	G	7.516	0.655655	0.14580	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	T	0.78595	-1.19	5.51	2.36	0.29203	.	0.314311	0.34777	N	0.003689	T	0.60392	0.2265	N	0.24115	0.695	0.09310	N	1	B	0.26775	0.159	B	0.24848	0.056	T	0.50242	-0.8851	10	0.38643	T	0.18	-11.701	7.1878	0.25809	0.1483:0.0:0.712:0.1397	.	341	Q8WYR1	PI3R5_HUMAN	V	341	ENSP00000392812:A341V	ENSP00000269300:A341V	A	-	2	0	PIK3R5	8732807	0.412000	0.25392	0.006000	0.13384	0.340000	0.28889	2.120000	0.41968	0.647000	0.30713	0.650000	0.86243	GCC		0.617	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		3	36	0	0	0	0.115264	0	3	36				
WHSC1	7468	broad.mit.edu	37	4	1957915	1957915	+	Splice_Site	SNP	G	G	T			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr4:1957915G>T	ENST00000382895.3	+	17	3312	c.2881G>T	c.(2881-2883)Gca>Tca	p.A961S	WHSC1_ENST00000508803.1_Splice_Site_p.A961S|WHSC1_ENST00000382892.2_Splice_Site_p.A961S|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382891.5_Splice_Site_p.A961S|WHSC1_ENST00000382888.3_Splice_Site_p.A309S	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	961					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		CTTCAAAAACGGTACGGAGAT	0.463			T	IGH@	MM																																	ENST00000382895.3				Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48						c.e17+1		Wolf-Hirschhorn syndrome candidate 1							51.0	60.0	57.0					4																	1957915		2199	4300	6499	SO:0001630	splice_region_variant	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1957915G>T	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.2881+1G>T	4.37:g.1957915G>T						WHSC1_ENST00000382888.3_Splice_Site_p.A309_splice|WHSC1_ENST00000508803.1_Splice_Site_p.A961_splice|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382891.5_Splice_Site_p.A961_splice|WHSC1_ENST00000382892.2_Splice_Site_p.A961_splice	p.A961_splice	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	17	3312	+		all_epithelial(65;1.34e-05)	961					A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Splice_Site	SNP	ENST00000382895.3	37	c.2881_splice	CCDS33940.1	.	.	.	.	.	.	.	.	.	.	G	34	5.314173	0.95655	.	.	ENSG00000109685	ENST00000508803;ENST00000382891;ENST00000382892;ENST00000382895;ENST00000382888	T;T;T;T;T	0.57907	0.37;0.37;0.37;0.37;0.37	5.43	5.43	0.79202	.	0.000000	0.53938	D	0.000051	T	0.75517	0.3860	M	0.81682	2.555	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.972;0.997	T	0.77800	-0.2452	10	0.59425	D	0.04	.	19.2365	0.93862	0.0:0.0:1.0:0.0	.	309;961	A2A2T2;O96028	.;NSD2_HUMAN	S	961;961;961;961;309	ENSP00000423972:A961S;ENSP00000372347:A961S;ENSP00000372348:A961S;ENSP00000372351:A961S;ENSP00000372344:A309S	ENSP00000372344:A309S	A	+	1	0	WHSC1	1927713	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	9.689000	0.98673	2.549000	0.85964	0.655000	0.94253	GCA		0.463	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330	Missense_Mutation	15	138	1	0	2.31682e-05	0.479597	2.55006e-05	15	138				
IL12A	3592	broad.mit.edu	37	3	159710911	159710911	+	Splice_Site	SNP	A	A	T			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr3:159710911A>T	ENST00000305579.2	+	3	684	c.377A>T	c.(376-378)aAg>aTg	p.K126M	IL12A_ENST00000480787.1_Intron|IL12A-AS1_ENST00000497452.1_RNA|IL12A_ENST00000466512.1_Splice_Site_p.K126M	NM_000882.3	NP_000873.2	P29459	IL12A_HUMAN	interleukin 12A	92					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|defense response to Gram-positive bacterium (GO:0050830)|defense response to protozoan (GO:0042832)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cell adhesion (GO:0045785)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|response to lipopolysaccharide (GO:0032496)|response to UV-B (GO:0010224)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|interleukin-12 complex (GO:0043514)	interleukin-12 beta subunit binding (GO:0042163)|interleukin-12 receptor binding (GO:0005143)|interleukin-27 binding (GO:0045513)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	9			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GAATTAACCAAGGTATAAAGG	0.383																																						ENST00000305579.2																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	9						c.e3+1		interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)							61.0	67.0	65.0					3																	159710911		2202	4300	6502	SO:0001630	splice_region_variant	3592				cell cycle arrest|cell migration|defense response to Gram-positive bacterium|immune response|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of cell adhesion|positive regulation of interferon-gamma production|positive regulation of natural killer cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of NK T cell activation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of tyrosine phosphorylation of Stat4 protein|response to lipopolysaccharide|response to UV-B|response to virus	interleukin-12 complex	cytokine activity|growth factor activity|interleukin-12 receptor binding|interleukin-27 binding|protein heterodimerization activity	g.chr3:159710911A>T	M65271	CCDS3187.1	3q25.33	2014-04-04	2014-04-04		ENSG00000168811	ENSG00000168811		"""Interleukins and interleukin receptors"""	5969	protein-coding gene	gene with protein product	"""natural killer cell stimulatory factor 1, 35 kD subunit"", ""cytotoxic lymphocyte maturation factor 1, p35"", ""interleukin 12, p35"", ""IL-12, subunit p35"", ""NF cell stimulatory factor chain 1"", ""interleukin-12 alpha chain"", ""IL35 subunit"""	161560	"""interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)"""	NKSF1		1673147	Standard	NM_000882		Approved	CLMF, IL-12A, p35, NFSK	uc003fcx.3	P29459	OTTHUMG00000158942	ENST00000305579.2:c.378+1A>T	3.37:g.159710911A>T						IL12A_ENST00000480787.1_Intron|IL12A_ENST00000466512.1_Splice_Site_p.K126_splice|CTD-2049J23.2_ENST00000497452.1_RNA	p.K126_splice	NM_000882.3	NP_000873.2	P29459	IL12A_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		3	684	+			92					Q96QZ1	Splice_Site	SNP	ENST00000305579.2	37	c.378_splice	CCDS3187.1	.	.	.	.	.	.	.	.	.	.	A	10.39	1.337189	0.24253	.	.	ENSG00000168811	ENST00000305579;ENST00000466512	.	.	.	5.66	-2.78	0.05859	.	1.000120	0.08080	N	1.000000	T	0.25865	0.0630	L	0.27053	0.805	0.09310	N	0.999999	B	0.11235	0.004	B	0.10450	0.005	T	0.29058	-1.0024	9	0.49607	T	0.09	-1.0851	5.083	0.14666	0.3989:0.2812:0.0:0.3199	.	126	O60595	.	M	126	.	ENSP00000303231:K126M	K	+	2	0	IL12A	161193605	0.021000	0.18746	0.043000	0.18650	0.403000	0.30841	-0.032000	0.12266	-0.314000	0.08716	0.460000	0.39030	AAG		0.383	IL12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352602.2	NM_000882	Missense_Mutation	24	99	0	0	0	0.681144	0	24	99				
BCL2L11	10018	broad.mit.edu	37	2	111907687	111907687	+	Missense_Mutation	SNP	G	G	T	rs373945451		TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr2:111907687G>T	ENST00000393256.3	+	3	734	c.461G>T	c.(460-462)cGt>cTt	p.R154L	BCL2L11_ENST00000357757.2_Missense_Mutation_p.R154L|BCL2L11_ENST00000393253.2_Missense_Mutation_p.R64L|BCL2L11_ENST00000308659.8_Missense_Mutation_p.R94L	NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3	NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1	O43521	B2L11_HUMAN	BCL2-like 11 (apoptosis facilitator)	154					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|brain development (GO:0007420)|cell-matrix adhesion (GO:0007160)|cellular process regulating host cell cycle in response to virus (GO:0060154)|developmental pigmentation (GO:0048066)|ear development (GO:0043583)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process by virus (GO:0060139)|positive regulation of cell cycle (GO:0045787)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|post-embryonic organ morphogenesis (GO:0048563)|regulation of developmental pigmentation (GO:0048070)|regulation of organ growth (GO:0046620)|response to endoplasmic reticulum stress (GO:0034976)|spermatogenesis (GO:0007283)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|thymocyte apoptotic process (GO:0070242)|thymus development (GO:0048538)|tube formation (GO:0035148)	BIM-BCL-2 complex (GO:0097141)|BIM-BCL-xl complex (GO:0097140)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|mitochondrial outer membrane (GO:0005741)				endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						GAGTTGCGGCGTATTGGAGAC	0.448																																						ENST00000393256.3																			0				endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						c.(460-462)cGt>cTt		BCL2-like 11 (apoptosis facilitator)							157.0	118.0	131.0					2																	111907687		2203	4300	6503	SO:0001583	missense	10018				activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|endomembrane system|mitochondrial outer membrane|plasma membrane	protein binding	g.chr2:111907687G>T	AF032458	CCDS2089.1, CCDS2092.1, CCDS42731.1, CCDS56131.1, CCDS56132.1, CCDS56133.1, CCDS56134.1, CCDS56135.1, CCDS56136.1, CCDS74560.1, CCDS74561.1, CCDS74559.1	2q13	2014-09-17			ENSG00000153094	ENSG00000153094			994	protein-coding gene	gene with protein product		603827				9731710, 9430630	Standard	NM_006538		Approved	BOD, BimL, BimEL, BimS, BIM	uc002tgv.1	O43521	OTTHUMG00000131256	ENST00000393256.3:c.461G>T	2.37:g.111907687G>T	ENSP00000376943:p.Arg154Leu					BCL2L11_ENST00000393253.2_Missense_Mutation_p.R64L|BCL2L11_ENST00000308659.8_Missense_Mutation_p.R94L|BCL2L11_ENST00000357757.2_Missense_Mutation_p.R154L	p.R154L	NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3	NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1	O43521	B2L11_HUMAN			3	734	+			154					A8K2W2|O43522|Q0MSE7|Q0MSE8|Q0MSE9|Q53R28|Q6JTU6|Q6T851|Q6TE14|Q6TE15|Q6TE16|Q6V402|Q8WYL6|Q8WYL7|Q8WYL8|Q8WYL9|Q8WYM0|Q8WYM1	Missense_Mutation	SNP	ENST00000393256.3	37	c.461G>T	CCDS2089.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.924748	0.92319	.	.	ENSG00000153094	ENST00000308659;ENST00000357757;ENST00000393253;ENST00000393256;ENST00000452033	.	.	.	5.89	5.89	0.94794	Bcl-x interacting (1);	0.000000	0.53938	D	0.000044	T	0.67268	0.2875	L	0.32530	0.975	0.80722	D	1	D;D;D	0.69078	0.996;0.997;0.997	D;D;D	0.81914	0.992;0.995;0.986	T	0.69000	-0.5261	9	0.87932	D	0	-10.6856	15.7362	0.77846	0.0:0.0:1.0:0.0	.	64;154;94	O43521-3;O43521;O43521-2	.;B2L11_HUMAN;.	L	94;154;64;154;21	.	ENSP00000309226:R94L	R	+	2	0	BCL2L11	111624158	1.000000	0.71417	0.964000	0.40570	0.927000	0.56198	5.870000	0.69620	2.791000	0.96007	0.591000	0.81541	CGT		0.448	BCL2L11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254022.3			11	45	1	0	2.10051e-16	0.411799	2.62964e-16	11	45				
PCDH10	57575	broad.mit.edu	37	4	134071805	134071805	+	Silent	SNP	C	C	T			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr4:134071805C>T	ENST00000264360.5	+	1	1336	c.510C>T	c.(508-510)gaC>gaT	p.D170D	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	170	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TCTCCCTGGACGTGCAGACCC	0.637																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(508-510)gaC>gaT		protocadherin 10							67.0	62.0	64.0					4																	134071805		2203	4300	6503	SO:0001819	synonymous_variant	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134071805C>T	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.510C>T	4.37:g.134071805C>T							p.D170D	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	1336	+			170			Cadherin 2.		Q4W5F6|Q96SF0	Silent	SNP	ENST00000264360.5	37	c.510C>T	CCDS34063.1																																																																																				0.637	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		20	101	0	0	0	0.575678	0	20	101				
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716	byFrequency	TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr6:29910693A>G	ENST00000396634.1	+	4	574	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	78	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.Q78R(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			2	Substitution - Missense(2)	p.Q78R(2)	lung(1)|endometrium(1)	central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(232-234)cAg>cGg		major histocompatibility complex, class I, A							54.0	57.0	56.0					6																	29910693		2203	4299	6502	SO:0001583	missense	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29910693A>G	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.233A>G	6.37:g.29910693A>G	ENSP00000379873:p.Gln78Arg	Multiple Myeloma(9;0.094)				HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R	p.Q78R			P30443	1A01_HUMAN			4	574	+			78			Alpha-1.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	c.233A>G	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	9.798	1.179669	0.21787	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	T;T;T;T	0.00784	5.7;5.7;5.7;5.7	3.72	-4.39	0.03611	MHC class I, alpha chain, alpha1/alpha2 (3);MHC classes I/II-like antigen recognition protein (3);MHC class I-like antigen recognition (3);	1.398580	0.06189	N	0.681068	T	0.00815	0.0027	L	0.56280	1.765	0.09310	N	1	B;P;B;P;B	0.42483	0.0;0.781;0.0;0.781;0.0	B;D;B;D;B	0.71184	0.006;0.972;0.01;0.972;0.01	T	0.44952	-0.9294	10	0.87932	D	0	.	0.9552	0.01384	0.3504:0.1689:0.3159:0.1647	rs41559716	78;78;78;78;78	P13746;Q5SRN7;P16188;Q5SRN5;P04439	1A11_HUMAN;.;1A30_HUMAN;.;1A03_HUMAN	R	78	ENSP00000379873:Q78R;ENSP00000366002:Q78R;ENSP00000366005:Q78R;ENSP00000365998:Q78R	ENSP00000348012:Q78R	Q	+	2	0	HLA-A	30018672	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-0.990000	0.03732	-0.910000	0.03847	-0.450000	0.05554	CAG		0.657	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		3	15	0	0	0	0.184627	0	3	15				
NMS	129521	broad.mit.edu	37	2	101087010	101087010	+	Silent	SNP	A	A	G			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr2:101087010A>G	ENST00000376865.1	+	1	67	c.60A>G	c.(58-60)ctA>ctG	p.L20L		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	20					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						TCTGCATGCTACAGATTCCCT	0.537																																						ENST00000376865.1																			0				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						c.(58-60)ctA>ctG		neuromedin S							324.0	280.0	295.0					2																	101087010		2203	4300	6503	SO:0001819	synonymous_variant	129521				neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region		g.chr2:101087010A>G	AB164464	CCDS33259.1	2q11.2	2013-02-26			ENSG00000204640	ENSG00000204640		"""Endogenous ligands"""	32203	protein-coding gene	gene with protein product	"""prepro-NMS"""					15635449	Standard	NM_001011717		Approved		uc002tan.1	Q5H8A3	OTTHUMG00000153142	ENST00000376865.1:c.60A>G	2.37:g.101087010A>G							p.L20L	NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN			1	67	+			20						Silent	SNP	ENST00000376865.1	37	c.60A>G	CCDS33259.1																																																																																				0.537	NMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329737.1	NM_001011717		34	153	0	0	0	0.788014	0	34	153				
LRP1B	53353	broad.mit.edu	37	2	141283518	141283518	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr2:141283518T>A	ENST00000389484.3	-	49	8892	c.7921A>T	c.(7921-7923)Aca>Tca	p.T2641S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2641	LDL-receptor class A 14. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATGAACCCTGTGGTTTTCACT	0.383										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(7921-7923)Aca>Tca		low density lipoprotein receptor-related protein 1B							113.0	106.0	108.0					2																	141283518		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141283518T>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.7921A>T	2.37:g.141283518T>A	ENSP00000374135:p.Thr2641Ser	TSP Lung(27;0.18)					p.T2641S	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	49	8892	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2641			LDL-receptor class A 14.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.7921A>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	8.049	0.765658	0.15983	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90788	-2.73	5.04	1.27	0.21489	.	0.197876	0.42420	D	0.000703	T	0.64283	0.2584	N	0.00750	-1.22	0.19575	N	0.999967	B	0.02656	0.0	B	0.04013	0.001	T	0.59397	-0.7462	10	0.07482	T	0.82	.	3.6561	0.08221	0.3263:0.2168:0.0:0.4569	.	2641	Q9NZR2	LRP1B_HUMAN	S	2641;2579	ENSP00000374135:T2641S	ENSP00000374135:T2641S	T	-	1	0	LRP1B	140999988	0.968000	0.33430	0.995000	0.50966	0.954000	0.61252	0.623000	0.24447	0.126000	0.18424	-0.263000	0.10527	ACA		0.383	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		22	64	0	0	0	0.639603	0	22	64				
ELTD1	64123	broad.mit.edu	37	1	79383352	79383352	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr1:79383352C>A	ENST00000370742.3	-	12	1779	c.1716G>T	c.(1714-1716)tgG>tgT	p.W572C		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	572					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CTATAAAACTCCAAATAAAGT	0.279																																						ENST00000370742.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69						c.(1714-1716)tgG>tgT		EGF, latrophilin and seven transmembrane domain containing 1							59.0	55.0	56.0					1																	79383352		1800	4065	5865	SO:0001583	missense	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79383352C>A	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.1716G>T	1.37:g.79383352C>A	ENSP00000359778:p.Trp572Cys						p.W572C	NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	12	1779	-			572					B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	37	c.1716G>T	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.123957	0.77436	.	.	ENSG00000162618	ENST00000370742;ENST00000401034	T;T	0.58060	0.36;0.36	5.89	5.89	0.94794	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.82144	0.4973	H	0.97516	4.02	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87598	0.2495	9	.	.	.	.	20.2566	0.98424	0.0:1.0:0.0:0.0	.	572	Q9HBW9	ELTD1_HUMAN	C	572;30	ENSP00000359778:W572C;ENSP00000383813:W30C	.	W	-	3	0	ELTD1	79155940	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.761000	0.68801	2.793000	0.96121	0.561000	0.74099	TGG		0.279	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		10	46	1	0	3.86212e-05	0.361761	4.19462e-05	10	46				
SEC31A	22872	broad.mit.edu	37	4	83770026	83770026	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr4:83770026C>A	ENST00000395310.2	-	20	2615	c.2433G>T	c.(2431-2433)aaG>aaT	p.K811N	SEC31A_ENST00000311785.7_Missense_Mutation_p.K811N|SEC31A_ENST00000432794.1_Missense_Mutation_p.K811N|SEC31A_ENST00000448323.1_Missense_Mutation_p.K811N|SEC31A_ENST00000505472.1_Missense_Mutation_p.K811N|SEC31A_ENST00000264405.5_Missense_Mutation_p.K544N|SEC31A_ENST00000355196.2_Missense_Mutation_p.K811N|SEC31A_ENST00000508502.1_Missense_Mutation_p.K811N|SEC31A_ENST00000513858.1_Missense_Mutation_p.K772N|SEC31A_ENST00000326950.5_Missense_Mutation_p.K772N|SEC31A_ENST00000509142.1_Missense_Mutation_p.K811N|SEC31A_ENST00000505984.1_Missense_Mutation_p.K772N|SEC31A_ENST00000348405.4_Missense_Mutation_p.K772N|SEC31A_ENST00000443462.2_Missense_Mutation_p.K806N|SEC31A_ENST00000500777.2_Missense_Mutation_p.K772N|SEC31A_ENST00000508479.1_Missense_Mutation_p.K811N	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	811	Interaction with PDCD6.|Pro-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				CAGGCCTGCCCTTGGGGAGCT	0.488																																						ENST00000432794.1																		SEC31A/ALK(3)|SEC31A/JAK2(4)	0				breast(1)	1						c.(2431-2433)aaG>aaT		SEC31 homolog A (S. cerevisiae)							114.0	106.0	109.0					4																	83770026		2203	4300	6503	SO:0001583	missense	22872				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	g.chr4:83770026C>A	AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.2433G>T	4.37:g.83770026C>A	ENSP00000378721:p.Lys811Asn					SEC31A_ENST00000348405.4_Missense_Mutation_p.K772N|SEC31A_ENST00000326950.5_Missense_Mutation_p.K772N|SEC31A_ENST00000395310.2_Missense_Mutation_p.K811N|SEC31A_ENST00000311785.7_Missense_Mutation_p.K811N|SEC31A_ENST00000513858.1_Missense_Mutation_p.K772N|SEC31A_ENST00000508479.1_Missense_Mutation_p.K811N|SEC31A_ENST00000505472.1_Missense_Mutation_p.K811N|SEC31A_ENST00000264405.5_Missense_Mutation_p.K544N|SEC31A_ENST00000355196.2_Missense_Mutation_p.K811N|SEC31A_ENST00000509142.1_Missense_Mutation_p.K811N|SEC31A_ENST00000508502.1_Missense_Mutation_p.K811N|SEC31A_ENST00000505984.1_Missense_Mutation_p.K772N|SEC31A_ENST00000500777.2_Missense_Mutation_p.K772N|SEC31A_ENST00000448323.1_Missense_Mutation_p.K811N|SEC31A_ENST00000443462.2_Missense_Mutation_p.K806N	p.K811N			O94979	SC31A_HUMAN			20	2596	-		Hepatocellular(203;0.114)	811			Interaction with PDCD6.|Pro-rich.		B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Missense_Mutation	SNP	ENST00000395310.2	37	c.2433G>T	CCDS3596.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.82|11.82	1.752064|1.752064	0.31046|0.31046	.|.	.|.	ENSG00000138674|ENSG00000138674	ENST00000507828|ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000264405;ENST00000505984;ENST00000508479	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.37915	.|1.34;1.2;2.41;2.4;1.27;2.31;2.41;1.34;1.27;1.17;1.2;2.4;2.41;3.24;2.34;2.32	5.65|5.65	2.99|2.99	0.34606|0.34606	.|.	.|0.186870	.|0.48286	.|D	.|0.000181	T|T	0.39410|0.39410	0.1077|0.1077	L|L	0.29908|0.29908	0.895|0.895	0.48452|0.48452	D|D	0.999651|0.999651	.|D;D;P;D;P;P;D;D;D	.|0.89917	.|0.997;0.965;0.565;0.998;0.929;0.778;1.0;0.966;0.999	.|P;B;B;P;P;B;D;P;D	.|0.71414	.|0.899;0.445;0.276;0.878;0.583;0.352;0.973;0.656;0.973	T|T	0.13548|0.13548	-1.0505|-1.0505	5|10	.|0.28530	.|T	.|0.3	-19.3492|-19.3492	6.2397|6.2397	0.20783|0.20783	0.0:0.6113:0.0:0.3887|0.0:0.6113:0.0:0.3887	.|.	.|806;772;811;772;772;811;811;811;544	.|B4DIW6;B7ZL00;D6RHZ5;O94979-6;O94979-4;O94979-3;O94979-2;O94979;O94979-7	.|.;.;.;.;.;.;.;SC31A_HUMAN;.	W|N	428|772;772;811;806;811;811;811;772;811;811;772;811;811;544;772;811	.|ENSP00000337602:K772N;ENSP00000426886:K772N;ENSP00000378721:K811N;ENSP00000408027:K806N;ENSP00000426569:K811N;ENSP00000407944:K811N;ENSP00000400926:K811N;ENSP00000325087:K772N;ENSP00000309070:K811N;ENSP00000421633:K811N;ENSP00000421464:K772N;ENSP00000424635:K811N;ENSP00000347329:K811N;ENSP00000264405:K544N;ENSP00000424451:K772N;ENSP00000425999:K811N	.|ENSP00000264405:K544N	G|K	-|-	1|3	0|2	SEC31A|SEC31A	83989050|83989050	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.018000|0.018000	0.09664|0.09664	1.657000|1.657000	0.37366|0.37366	0.754000|0.754000	0.32968|0.32968	-0.229000|-0.229000	0.12294|0.12294	GGG|AAG		0.488	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		28	118	1	0	1.88708e-17	0.729181	2.38063e-17	28	118				
TRPC4	7223	broad.mit.edu	37	13	38266248	38266248	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr13:38266248C>G	ENST00000379705.3	-	4	1979	c.1122G>C	c.(1120-1122)ttG>ttC	p.L374F	TRPC4_ENST00000379681.3_Missense_Mutation_p.L374F|TRPC4_ENST00000355779.2_Missense_Mutation_p.L374F|TRPC4_ENST00000338947.5_Missense_Mutation_p.L201F|TRPC4_ENST00000447043.1_Missense_Mutation_p.L374F|TRPC4_ENST00000358477.2_Missense_Mutation_p.L374F|TRPC4_ENST00000426868.2_Missense_Mutation_p.L374F|TRPC4_ENST00000379673.2_Missense_Mutation_p.L374F|TRPC4_ENST00000379679.1_Missense_Mutation_p.L201F			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	374					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		ACAAAAAAGTCAAATAGGAGG	0.483																																						ENST00000379705.3																			0				NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83						c.(1120-1122)ttG>ttC		transient receptor potential cation channel, subfamily C, member 4							121.0	114.0	117.0					13																	38266248		2203	4300	6503	SO:0001583	missense	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38266248C>G	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.1122G>C	13.37:g.38266248C>G	ENSP00000369027:p.Leu374Phe					TRPC4_ENST00000338947.5_Missense_Mutation_p.L201F|TRPC4_ENST00000447043.1_Missense_Mutation_p.L374F|TRPC4_ENST00000379679.1_Missense_Mutation_p.L201F|TRPC4_ENST00000355779.2_Missense_Mutation_p.L374F|TRPC4_ENST00000426868.2_Missense_Mutation_p.L374F|TRPC4_ENST00000358477.2_Missense_Mutation_p.L374F|TRPC4_ENST00000379673.2_Missense_Mutation_p.L374F|TRPC4_ENST00000379681.3_Missense_Mutation_p.L374F	p.L374F			Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	4	1979	-			374					B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	c.1122G>C	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.067052	0.55539	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000426868;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	T;T;T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86	5.75	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.58104	0.2099	L	0.35288	1.05	0.49915	D	0.999833	D;D;D;D;D;D	0.89917	1.0;0.997;0.999;1.0;0.999;1.0	D;D;D;D;D;D	0.97110	0.992;0.975;0.996;1.0;0.989;0.989	T	0.55302	-0.8162	10	0.29301	T	0.29	-13.9526	16.8534	0.86000	0.0:0.8715:0.1284:0.0	.	374;374;374;201;374;374	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	F	374;374;201;201;374;374;374;374;374	ENSP00000369027:L374F;ENSP00000369003:L374F;ENSP00000342580:L201F;ENSP00000369001:L201F;ENSP00000410133:L374F;ENSP00000348025:L374F;ENSP00000351264:L374F;ENSP00000368995:L374F;ENSP00000414316:L374F	ENSP00000342580:L201F	L	-	3	2	TRPC4	37164248	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.581000	0.46077	1.405000	0.46838	0.563000	0.77884	TTG		0.483	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		18	65	0	0	0	0.592651	0	18	65				
ZIK1	284307	broad.mit.edu	37	19	58102416	58102416	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr19:58102416G>A	ENST00000597850.1	+	4	1452	c.1237G>A	c.(1237-1239)Ggg>Agg	p.G413R	ZIK1_ENST00000536878.2_Missense_Mutation_p.G400R|ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000599456.1_Missense_Mutation_p.G358R	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	413					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGGTGACTGTGGGAAATCCTT	0.458																																						ENST00000597850.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1237-1239)Ggg>Agg		zinc finger protein interacting with K protein 1							66.0	61.0	62.0					19																	58102416		2203	4300	6503	SO:0001583	missense	284307				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58102416G>A	AK092538	CCDS33135.1	19q13.43	2013-01-08	2012-12-07		ENSG00000171649	ENSG00000171649		"""Zinc fingers, C2H2-type"", ""-"""	33104	protein-coding gene	gene with protein product			"""zinc finger protein interacting with K protein 1 homolog (mouse)"""				Standard	XM_005258769		Approved	ZNF762	uc002qpg.3	Q3SY52		ENST00000597850.1:c.1237G>A	19.37:g.58102416G>A	ENSP00000472867:p.Gly413Arg					ZIK1_ENST00000536878.2_Missense_Mutation_p.G400R|ZIK1_ENST00000599456.1_Missense_Mutation_p.G358R|ZIK1_ENST00000307468.4_3'UTR	p.G413R	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	1452	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	413					O43339|Q3SY51|Q3SY53	Missense_Mutation	SNP	ENST00000597850.1	37	c.1237G>A	CCDS33135.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.093387	0.36952	.	.	ENSG00000171649	ENST00000536878;ENST00000356724;ENST00000307468	T	0.58506	0.33	3.37	2.32	0.28847	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.69015	0.3064	M	0.66297	2.02	0.35105	D	0.76556	D;D	0.76494	0.991;0.999	P;D	0.65987	0.658;0.94	T	0.75709	-0.3223	9	0.62326	D	0.03	.	9.7998	0.40757	0.1076:0.0:0.8924:0.0	.	400;413	F5H435;Q3SY52	.;ZIK1_HUMAN	R	400;366;413	ENSP00000438487:G400R	ENSP00000303820:G413R	G	+	1	0	ZIK1	62794228	1.000000	0.71417	0.993000	0.49108	0.101000	0.19017	3.857000	0.55972	0.750000	0.32877	-0.140000	0.14226	GGG		0.458	ZIK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466791.1	NM_001010879		16	77	0	0	0	0.479597	0	16	77				
FBN2	2201	broad.mit.edu	37	5	127670537	127670537	+	Splice_Site	SNP	C	C	A			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr5:127670537C>A	ENST00000508053.1	-	37	4948		c.e37-1		FBN2_ENST00000262464.4_Splice_Site|FBN2_ENST00000507835.1_Splice_Site|FBN2_ENST00000508989.1_Splice_Site			P35556	FBN2_HUMAN	fibrillin 2						anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCATTGACATCTAGAAAATTT	0.348																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.e37-1		fibrillin 2							110.0	105.0	107.0					5																	127670537		2203	4300	6503	SO:0001630	splice_region_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127670537C>A	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.3974-1G>T	5.37:g.127670537C>A						FBN2_ENST00000507835.1_Splice_Site|FBN2_ENST00000508989.1_Splice_Site|FBN2_ENST00000262464.4_Splice_Site				P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	37	4948	-		all_cancers(142;0.0216)|Prostate(80;0.0551)						B4DU01|Q59ES6	Splice_Site	SNP	ENST00000508053.1	37		CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086419	0.76642	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000507835;ENST00000508989	.	.	.	4.79	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9857	0.89155	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FBN2	127698436	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	5.890000	0.69774	2.638000	0.89438	0.655000	0.94253	.		0.348	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	Intron	4	102	1	0	0.184627	0.184627	0.189243	4	102				
GRM1	2911	broad.mit.edu	37	6	146755141	146755141	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr6:146755141C>A	ENST00000282753.1	+	8	3029	c.2794C>A	c.(2794-2796)Ccc>Acc	p.P932T	GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000361719.2_Missense_Mutation_p.P932T|GRM1_ENST00000392299.2_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	932					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CGTCATCAAGCCCCTCACTAA	0.557																																						ENST00000361719.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(2794-2796)Ccc>Acc		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						93.0	98.0	97.0					6																	146755141		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146755141C>A	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2794C>A	6.37:g.146755141C>A	ENSP00000282753:p.Pro932Thr					GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.P932T	p.P932T	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	9	3264	+		Ovarian(120;0.0387)	932					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.2794C>A	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.249048	0.80024	.	.	ENSG00000152822	ENST00000361719;ENST00000282753	T;T	0.70516	-0.49;-0.49	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.74215	0.3687	M	0.80183	2.485	0.80722	D	1	P	0.52463	0.953	P	0.47744	0.556	T	0.79636	-0.1721	10	0.72032	D	0.01	.	19.2218	0.93799	0.0:1.0:0.0:0.0	.	932	Q13255	GRM1_HUMAN	T	932	ENSP00000354896:P932T;ENSP00000282753:P932T	ENSP00000282753:P932T	P	+	1	0	GRM1	146796834	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.747000	0.68689	2.532000	0.85374	0.462000	0.41574	CCC		0.557	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		33	136	1	0	7.11191e-15	0.769981	8.70413e-15	33	136				
TBR1	10716	broad.mit.edu	37	2	162274270	162274270	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr2:162274270C>T	ENST00000389554.3	+	2	1093	c.776C>T	c.(775-777)gCg>gTg	p.A259V	TBR1_ENST00000410035.1_5'Flank	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	259					axon guidance (GO:0007411)|brain development (GO:0007420)|hindbrain development (GO:0030902)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of neuron projection development (GO:0010975)|specification of organ identity (GO:0010092)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A259V(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						GTGATTTTGGCGGATCCCAAT	0.423																																						ENST00000389554.3																			1	Substitution - Missense(1)	p.A259V(1)	endometrium(1)	central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						c.(775-777)gCg>gTg		T-box, brain, 1							98.0	98.0	98.0					2																	162274270		2203	4300	6503	SO:0001583	missense	10716					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:162274270C>T	U49250	CCDS33310.1	2q24.2	2011-06-13			ENSG00000136535	ENSG00000136535		"""T-boxes"""	11590	protein-coding gene	gene with protein product		604616				7619531	Standard	NM_006593		Approved		uc002ubw.1	Q16650	OTTHUMG00000153888	ENST00000389554.3:c.776C>T	2.37:g.162274270C>T	ENSP00000374205:p.Ala259Val						p.A259V	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN			2	1093	+			259					B0AZS4|B2R6G5|Q14DC5|Q53TH0|Q56A81	Missense_Mutation	SNP	ENST00000389554.3	37	c.776C>T	CCDS33310.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.036868	0.75617	.	.	ENSG00000136535	ENST00000389554	T	0.79033	-1.23	5.49	5.49	0.81192	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.79299	0.4422	N	0.16656	0.425	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.77021	-0.2742	10	0.24483	T	0.36	.	17.9642	0.89094	0.0:1.0:0.0:0.0	.	259	Q16650	TBR1_HUMAN	V	259	ENSP00000374205:A259V	ENSP00000374205:A259V	A	+	2	0	TBR1	161982516	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.814000	0.86154	2.565000	0.86533	0.655000	0.94253	GCG		0.423	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332845.1	NM_006593		4	231	0	0	0	0.150653	0	4	231				
ZNF536	9745	broad.mit.edu	37	19	30936347	30936347	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr19:30936347G>A	ENST00000355537.3	+	2	2025	c.1878G>A	c.(1876-1878)atG>atA	p.M626I		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	626					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CTGGGAACATGAAGGAGAAGC	0.597																																						ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(1876-1878)atG>atA		zinc finger protein 536							94.0	106.0	102.0					19																	30936347		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30936347G>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1878G>A	19.37:g.30936347G>A	ENSP00000347730:p.Met626Ile						p.M626I	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			2	2025	+	Esophageal squamous(110;0.0834)		626					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.1878G>A	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	8.922	0.961277	0.18583	.	.	ENSG00000198597	ENST00000355537	T	0.42131	0.98	5.68	2.46	0.29980	.	0.654468	0.17449	N	0.173859	T	0.20007	0.0481	N	0.08118	0	0.35842	D	0.826102	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.13980	-1.0489	10	0.18276	T	0.48	-2.7353	8.5264	0.33307	0.3862:0.0:0.6138:0.0	.	626;626	A7E228;O15090	.;ZN536_HUMAN	I	626	ENSP00000347730:M626I	ENSP00000347730:M626I	M	+	3	0	ZNF536	35628187	1.000000	0.71417	0.964000	0.40570	0.914000	0.54420	1.756000	0.38390	0.346000	0.23899	0.655000	0.94253	ATG		0.597	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		58	222	0	0	0	0.870114	0	58	222				
WNK4	65266	broad.mit.edu	37	17	40948502	40948502	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr17:40948502T>A	ENST00000246914.5	+	18	3656	c.3635T>A	c.(3634-3636)aTc>aAc	p.I1212N	CNTD1_ENST00000588527.1_5'Flank|CNTD1_ENST00000588408.1_5'Flank	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	1212					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CTCCCAGGCATCATGCGAAGG	0.647																																					Esophageal Squamous(6;201 374 4964 23855 42828)	ENST00000246914.5																			0				NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35						c.(3634-3636)aTc>aAc		WNK lysine deficient protein kinase 4							46.0	48.0	47.0					17																	40948502		2203	4299	6502	SO:0001583	missense	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40948502T>A	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.3635T>A	17.37:g.40948502T>A	ENSP00000246914:p.Ile1212Asn						p.1212_1212insN	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	18	3656	+		Breast(137;0.000143)	0					B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	ENST00000246914.5	37	c.3635T>A	CCDS11439.1	.	.	.	.	.	.	.	.	.	.	T	16.45	3.126103	0.56721	.	.	ENSG00000126562	ENST00000246914	T	0.78481	-1.18	5.51	5.51	0.81932	.	0.000000	0.41823	D	0.000808	D	0.84419	0.5468	L	0.50333	1.59	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	D	0.85834	0.1393	10	0.66056	D	0.02	-14.4451	15.2775	0.73753	0.0:0.0:0.0:1.0	.	1212	Q96J92	WNK4_HUMAN	N	1212	ENSP00000246914:I1212N	ENSP00000246914:I1212N	I	+	2	0	WNK4	38202028	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.072000	0.76777	2.096000	0.63516	0.533000	0.62120	ATC		0.647	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			22	67	0	0	0	0.693898	0	22	67				
BTAF1	9044	broad.mit.edu	37	10	93748998	93748998	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr10:93748998C>A	ENST00000265990.6	+	20	2823	c.2515C>A	c.(2515-2517)Caa>Aaa	p.Q839K	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	839					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				ACAGCAGGTCCAAATGACAGT	0.418																																						ENST00000265990.6																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59						c.(2515-2517)Caa>Aaa		BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa							82.0	79.0	80.0					10																	93748998		2203	4300	6503	SO:0001583	missense	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93748998C>A	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.2515C>A	10.37:g.93748998C>A	ENSP00000265990:p.Gln839Lys					BTAF1_ENST00000471217.1_3'UTR	p.Q839K	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN			20	2823	+		Colorectal(252;0.0846)	839					B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	37	c.2515C>A	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.638921	0.47153	.	.	ENSG00000095564	ENST00000265990	D	0.89939	-2.59	4.89	4.89	0.63831	Domain of unknown function DUF3535 (1);Armadillo-type fold (1);	0.110367	0.64402	D	0.000006	D	0.87585	0.6214	M	0.76574	2.34	0.80722	D	1	B;B	0.27117	0.168;0.168	B;B	0.28465	0.09;0.09	D	0.83803	0.0237	10	0.05833	T	0.94	0.509	18.4038	0.90526	0.0:1.0:0.0:0.0	.	839;839	Q2M1V9;O14981	.;BTAF1_HUMAN	K	839	ENSP00000265990:Q839K	ENSP00000265990:Q839K	Q	+	1	0	BTAF1	93738978	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.967000	0.70403	2.427000	0.82271	0.543000	0.68304	CAA		0.418	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		10	78	1	0	7.48243e-07	0.335167	8.40492e-07	10	78				
APOBEC3B	9582	broad.mit.edu	37	22	39385564	39385564	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr22:39385564C>A	ENST00000333467.3	+	5	717	c.672C>A	c.(670-672)gaC>gaA	p.D224E	APOBEC3B_ENST00000402182.3_Missense_Mutation_p.D224E|APOBEC3B_ENST00000407298.3_Missense_Mutation_p.D224E|APOBEC3B-AS1_ENST00000513758.2_RNA	NM_001270411.1|NM_004900.4	NP_001257340.1|NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	224					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|negative regulation of transposition (GO:0010529)	nucleus (GO:0005634)	deoxycytidine deaminase activity (GO:0047844)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					AGCGCCTGGACAATGGCACCT	0.562																																						ENST00000402182.3																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13						c.(670-672)gaC>gaA		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B							76.0	65.0	68.0					22																	39385564		2198	4279	6477	SO:0001583	missense	9582				negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding	g.chr22:39385564C>A	AK024854	CCDS13982.1, CCDS58807.1	22q13.1-q13.2	2008-05-15			ENSG00000179750	ENSG00000179750		"""Apolipoprotein B mRNA editing enzymes"""	17352	protein-coding gene	gene with protein product	"""phorbolin 3"""	607110				11863358, 10469298	Standard	NM_004900		Approved	PHRBNL, FLJ21201	uc003awo.2	Q9UH17	OTTHUMG00000151085	ENST00000333467.3:c.672C>A	22.37:g.39385564C>A	ENSP00000327459:p.Asp224Glu					APOBEC3B_ENST00000333467.3_Missense_Mutation_p.D224E|APOBEC3B_ENST00000407298.3_Missense_Mutation_p.D224E	p.D224E			Q9UH17	ABC3B_HUMAN			5	727	+	Melanoma(58;0.04)		224					B0QYD2|O95618|Q20WL1|Q5IFJ4|Q7Z2N3|Q7Z6D6|Q9UE74	Missense_Mutation	SNP	ENST00000333467.3	37	c.672C>A	CCDS13982.1	.	.	.	.	.	.	.	.	.	.	.	8.332	0.826661	0.16749	.	.	ENSG00000179750	ENST00000407298;ENST00000402182;ENST00000333467	D;D;D	0.84944	-1.92;-1.92;-1.92	1.92	-3.84	0.04256	APOBEC-like, N-terminal (1);	.	.	.	.	T	0.78666	0.4319	M	0.75777	2.31	0.09310	N	1	B;B	0.29988	0.264;0.25	B;B	0.36885	0.235;0.041	T	0.64279	-0.6445	9	0.08837	T	0.75	.	0.4218	0.00457	0.3393:0.2851:0.1708:0.2048	.	224;224	B0QYD2;Q9UH17	.;ABC3B_HUMAN	E	224	ENSP00000385068:D224E;ENSP00000385060:D224E;ENSP00000327459:D224E	ENSP00000327459:D224E	D	+	3	2	APOBEC3B	37715510	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.471000	0.02344	-2.262000	0.00690	-0.556000	0.04195	GAC		0.562	APOBEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321233.1	NM_004900		17	70	1	0	1.67942e-08	0.539581	1.93961e-08	17	70				
KRTAP13-3	337960	broad.mit.edu	37	21	31798152	31798152	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr21:31798152C>A	ENST00000390690.2	-	1	134	c.79G>T	c.(79-81)Ggc>Tgc	p.G27C		NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	27						intermediate filament (GO:0005882)				endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						TAGGAAGAGCCACAGGAGGAG	0.567																																						ENST00000390690.2																			0				endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(79-81)Ggc>Tgc		keratin associated protein 13-3							77.0	83.0	81.0					21																	31798152		2203	4300	6503	SO:0001583	missense	337960					intermediate filament		g.chr21:31798152C>A	AP001708	CCDS13591.1	21q22.1	2006-03-13			ENSG00000240432	ENSG00000240432		"""Keratin associated proteins"""	18925	protein-coding gene	gene with protein product						12359730	Standard	NM_181622		Approved	KAP13.3	uc002yob.1	Q3SY46	OTTHUMG00000057776	ENST00000390690.2:c.79G>T	21.37:g.31798152C>A	ENSP00000375109:p.Gly27Cys						p.G27C	NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN			1	134	-			27					Q3LI78	Missense_Mutation	SNP	ENST00000390690.2	37	c.79G>T	CCDS13591.1	.	.	.	.	.	.	.	.	.	.	-	10.92	1.486573	0.26686	.	.	ENSG00000240432	ENST00000390690;ENST00000448917	T	0.03441	3.93	4.63	1.68	0.24146	.	0.183599	0.25509	U	0.030185	T	0.12689	0.0308	M	0.74467	2.265	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.05468	-1.0883	10	0.59425	D	0.04	-4.6677	5.0751	0.14626	0.0:0.627:0.1731:0.1999	.	27	Q3SY46	KR133_HUMAN	C	27	ENSP00000375109:G27C	ENSP00000375109:G27C	G	-	1	0	KRTAP13-3	30720023	0.292000	0.24362	0.004000	0.12327	0.202000	0.24057	0.310000	0.19356	0.215000	0.20761	0.650000	0.86243	GGC		0.567	KRTAP13-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128228.2			34	136	1	0	2.20474e-14	0.788014	2.67835e-14	34	136				
TP53	7157	broad.mit.edu	37	17	7576853	7576853	+	Splice_Site	SNP	C	C	T	rs11575996		TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr17:7576853C>T	ENST00000269305.4	-	9	1182	c.993G>A	c.(991-993)caG>caA	p.Q331Q	TP53_ENST00000359597.4_Splice_Site_p.Q331Q|TP53_ENST00000455263.2_Splice_Site_p.Q331Q|TP53_ENST00000420246.2_Splice_Site_p.Q331Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Splice_Site_p.Q331Q	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	331	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		Q -> H (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		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.0?(8)|p.Q331H(7)|p.Q331P(2)|p.Q331fs*6(1)|p.I332fs*49(1)|p.?(1)|p.Q331Q(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)	GACTTAGTACCTGAAGGGTGA	0.453		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"""		21	Substitution - Missense(9)|Whole gene deletion(8)|Insertion - Frameshift(2)|Unknown(1)|Substitution - coding silent(1)	p.0?(8)|p.Q331H(7)|p.Q331P(2)|p.Q331fs*6(1)|p.I332fs*49(1)|p.?(1)|p.Q331Q(1)	bone(4)|large_intestine(3)|lung(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|stomach(1)|urinary_tract(1)|liver(1)|skin(1)|breast(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.e9+1	Other conserved DNA damage response genes	tumor protein p53							115.0	108.0	110.0					17																	7576853		2203	4300	6503	SO:0001630	splice_region_variant	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.chr17:7576853C>T	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.993+1G>A	17.37:g.7576853C>T		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_ENST00000455263.2_Splice_Site_p.Q331_splice|TP53_ENST00000445888.2_Splice_Site_p.Q331_splice|TP53_ENST00000359597.4_Splice_Site_p.Q331_splice|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Splice_Site_p.Q331_splice	p.Q331_splice	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)	9	1125	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	331		Q -> H (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		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	Splice_Site	SNP	ENST00000269305.4	37	c.993_splice	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.064028	0.36373	.	.	ENSG00000141510	ENST00000419024	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	T	0.68897	0.3051	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67177	-0.5736	4	.	.	.	-17.7352	13.5611	0.61790	0.0:1.0:0.0:0.0	rs11575996	.	.	.	N	18	.	.	S	-	2	0	TP53	7517578	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	3.347000	0.52200	2.578000	0.87016	0.561000	0.74099	AGC		0.453	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Silent	56	79	0	0	0	0.870114	0	56	79				
NME7	29922	broad.mit.edu	37	1	169200035	169200035	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr1:169200035G>C	ENST00000367811.3	-	10	1167	c.911C>G	c.(910-912)tCt>tGt	p.S304C	NME7_ENST00000472647.1_Missense_Mutation_p.S268C	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	304					brain development (GO:0007420)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|CTP biosynthetic process (GO:0006241)|determination of left/right symmetry (GO:0007368)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|UTP biosynthetic process (GO:0006228)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					ACAAGGGCCAGAATACATTTC	0.323																																						ENST00000367811.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16						c.(910-912)tCt>tGt		NME/NM23 family member 7							79.0	73.0	75.0					1																	169200035		2202	4300	6502	SO:0001583	missense	29922				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity	g.chr1:169200035G>C	AF153191	CCDS1277.1, CCDS44274.1	1q24.2	2014-07-31	2012-05-18		ENSG00000143156	ENSG00000143156			20461	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 67"""	613465	"""non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase)"""			19852809	Standard	NM_197972		Approved	FLJ37194, NM23-H7, CFAP67	uc001gfu.3	Q9Y5B8	OTTHUMG00000034586	ENST00000367811.3:c.911C>G	1.37:g.169200035G>C	ENSP00000356785:p.Ser304Cys					NME7_ENST00000472647.1_Missense_Mutation_p.S268C	p.S304C	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN			10	1167	-	all_hematologic(923;0.208)		304					A8K3T6|A8MY09|B3KSW9|Q5TGZ4	Missense_Mutation	SNP	ENST00000367811.3	37	c.911C>G	CCDS1277.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340849	0.81911	.	.	ENSG00000143156	ENST00000472647;ENST00000367811	T;T	0.60548	0.18;0.18	5.65	5.65	0.86999	.	0.108809	0.64402	D	0.000004	T	0.81346	0.4803	H	0.96430	3.82	0.54753	D	0.999988	D	0.65815	0.995	D	0.71184	0.972	D	0.86801	0.1992	9	0.87932	D	0	-21.5203	16.655	0.85226	0.0:0.0:1.0:0.0	.	304	Q9Y5B8	NDK7_HUMAN	C	268;304	ENSP00000433341:S268C;ENSP00000356785:S304C	ENSP00000356785:S304C	S	-	2	0	NME7	167466659	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	4.200000	0.58433	2.653000	0.90120	0.650000	0.86243	TCT		0.323	NME7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083688.1	NM_013330		29	54	0	0	0	0.779181	0	29	54				
CACNA1D	776	broad.mit.edu	37	3	53699745	53699745	+	Silent	SNP	C	C	A	rs193196995	byFrequency	TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr3:53699745C>A	ENST00000350061.5	+	6	1336	c.825C>A	c.(823-825)gcC>gcA	p.A275A	CACNA1D_ENST00000422281.2_Silent_p.A275A|CACNA1D_ENST00000288139.4_Silent_p.A275A	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	275					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TTCACATAGCCCTTTTGGTAT	0.353																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(823-825)gcC>gcA		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						135.0	136.0	136.0					3																	53699745		2203	4300	6503	SO:0001819	synonymous_variant	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53699745C>A	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.825C>A	3.37:g.53699745C>A						CACNA1D_ENST00000350061.5_Silent_p.A275A|CACNA1D_ENST00000422281.2_Silent_p.A275A	p.A275A	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	6	943	+			275					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Silent	SNP	ENST00000350061.5	37	c.825C>A	CCDS46848.1																																																																																				0.353	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		36	148	1	0	1.04594e-18	0.819951	1.32972e-18	36	148				
MDGA2	161357	broad.mit.edu	37	14	47426789	47426789	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr14:47426789A>C	ENST00000399232.2	-	9	2034	c.1670T>G	c.(1669-1671)gTc>gGc	p.V557G	MDGA2_ENST00000426342.1_Missense_Mutation_p.V328G|SNORA25_ENST00000515926.1_RNA|MDGA2_ENST00000439988.3_Missense_Mutation_p.V626G|MDGA2_ENST00000357362.3_Missense_Mutation_p.V328G	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	557	Ig-like 6.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						ACTCATAGTGACACTTCGATC	0.458																																						ENST00000426342.1																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						c.(982-984)gTc>gGc		MAM domain containing glycosylphosphatidylinositol anchor 2							94.0	93.0	93.0					14																	47426789		1965	4162	6127	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47426789A>C	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1670T>G	14.37:g.47426789A>C	ENSP00000382178:p.Val557Gly					MDGA2_ENST00000357362.3_Missense_Mutation_p.V328G|MDGA2_ENST00000399232.2_Missense_Mutation_p.V626G|MDGA2_ENST00000439988.2_Missense_Mutation_p.V557G	p.V328G	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN			9	1729	-			557			Ig-like 3.		F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.983T>G		.	.	.	.	.	.	.	.	.	.	A	22.8	4.340259	0.81911	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	5.32	5.32	0.75619	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.46145	U	0.000312	T	0.37758	0.1015	L	0.48642	1.525	0.80722	D	1	P;D	0.54601	0.898;0.967	P;D	0.63877	0.9;0.919	T	0.13335	-1.0513	10	0.87932	D	0	.	14.1018	0.65062	1.0:0.0:0.0:0.0	.	328;557	F6W3S7;Q7Z553	.;MDGA2_HUMAN	G	557;328;626;328	ENSP00000400011:V557G;ENSP00000405456:V328G;ENSP00000382178:V626G;ENSP00000349925:V328G	ENSP00000349925:V328G	V	-	2	0	MDGA2	46496539	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	8.589000	0.90817	2.013000	0.59113	0.528000	0.53228	GTC		0.458	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		28	118	0	0	0	0.729181	0	28	118				
TMEM71	137835	broad.mit.edu	37	8	133764056	133764056	+	Missense_Mutation	SNP	C	C	A	rs111461300	byFrequency	TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr8:133764056C>A	ENST00000356838.3	-	4	431	c.289G>T	c.(289-291)Gtt>Ttt	p.V97F	TMEM71_ENST00000523829.1_Missense_Mutation_p.V97F|TMEM71_ENST00000377901.4_Missense_Mutation_p.V97F|TMEM71_ENST00000517538.1_5'UTR	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	97						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TTATACATAACGCTGGTCTGG	0.398																																						ENST00000356838.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						c.(289-291)Gtt>Ttt		transmembrane protein 71							157.0	143.0	148.0					8																	133764056		2203	4300	6503	SO:0001583	missense	137835					integral to membrane		g.chr8:133764056C>A	AK057631	CCDS6366.1, CCDS47921.1	8q24.22	2005-09-02				ENSG00000165071			26572	protein-coding gene	gene with protein product						12477932	Standard	NM_144649		Approved	FLJ33069	uc003ytn.3	Q6P5X7		ENST00000356838.3:c.289G>T	8.37:g.133764056C>A	ENSP00000349296:p.Val97Phe					TMEM71_ENST00000377901.4_Missense_Mutation_p.V97F|TMEM71_ENST00000523829.1_Missense_Mutation_p.V97F|TMEM71_ENST00000517538.1_5'UTR	p.V97F	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		4	431	-	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		97					Q3KRC2|Q8WVZ4|Q96LX9	Missense_Mutation	SNP	ENST00000356838.3	37	c.289G>T	CCDS6366.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.686260	0.68157	.	.	ENSG00000165071	ENST00000523829;ENST00000356838;ENST00000377901;ENST00000519187	.	.	.	5.95	5.95	0.96441	.	0.000000	0.64402	D	0.000001	T	0.79851	0.4517	M	0.76002	2.32	0.50313	D	0.999861	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.80883	-0.1183	9	0.87932	D	0	-19.4131	17.5526	0.87880	0.0:1.0:0.0:0.0	.	97;97;97	Q6P5X7;Q6P5X7-3;Q6P5X7-2	TMM71_HUMAN;.;.	F	97	.	ENSP00000349296:V97F	V	-	1	0	TMEM71	133833238	1.000000	0.71417	0.962000	0.40283	0.135000	0.20990	3.831000	0.55776	2.829000	0.97493	0.655000	0.94253	GTT		0.398	TMEM71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379591.1	NM_144649		54	233	1	0	3.21867e-24	0.870114	4.2229e-24	54	233				
ACSM2B	348158	broad.mit.edu	37	16	20554262	20554262	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr16:20554262T>G	ENST00000329697.6	-	12	1651	c.1483A>C	c.(1483-1485)Agc>Cgc	p.S495R	ACSM2B_ENST00000565232.1_Missense_Mutation_p.S495R|ACSM2B_ENST00000567288.1_5'Flank|ACSM2B_ENST00000567001.1_Missense_Mutation_p.S495R|ACSM2B_ENST00000565322.1_Missense_Mutation_p.S416R	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	495					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TCTGGGCTGCTGATCACAGCC	0.537																																						ENST00000329697.6																			0				breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						c.(1483-1485)Agc>Cgc		acyl-CoA synthetase medium-chain family member 2B							80.0	79.0	79.0					16																	20554262		2201	4299	6500	SO:0001583	missense	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20554262T>G	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1483A>C	16.37:g.20554262T>G	ENSP00000327453:p.Ser495Arg					ACSM2B_ENST00000567001.1_Missense_Mutation_p.S495R|ACSM2B_ENST00000565322.1_Missense_Mutation_p.S416R|ACSM2B_ENST00000565232.1_Missense_Mutation_p.S495R	p.S495R	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN			12	1651	-			495					Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	c.1483A>C	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	T	16.68	3.191194	0.58017	.	.	ENSG00000066813	ENST00000329697	T	0.58506	0.33	3.1	3.1	0.35709	.	0.224144	0.31156	N	0.008149	T	0.67420	0.2891	L	0.55103	1.725	0.80722	D	1	D;D	0.65815	0.99;0.995	D;D	0.66084	0.941;0.941	T	0.70121	-0.4959	10	0.66056	D	0.02	-7.4732	11.459	0.50199	0.0:0.0:0.0:1.0	.	495;495	A8K051;Q68CK6	.;ACS2B_HUMAN	R	495	ENSP00000327453:S495R	ENSP00000327453:S495R	S	-	1	0	ACSM2B	20461763	1.000000	0.71417	0.971000	0.41717	0.519000	0.34347	6.168000	0.71908	1.423000	0.47198	0.416000	0.27883	AGC		0.537	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		18	92	0	0	0	0.575678	0	18	92				
RASSF4	83937	broad.mit.edu	37	10	45480280	45480280	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr10:45480280G>A	ENST00000374417.2	+	5	435	c.301G>A	c.(301-303)Gga>Aga	p.G101R	RASSF4_ENST00000340258.5_Silent_p.E131E|RASSF4_ENST00000334940.6_Silent_p.E140E|RASSF4_ENST00000472561.1_3'UTR			Q8WYP3	RIN2_HUMAN	Ras association (RalGDS/AF-6) domain family member 4	0	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						AGGAGGCAGAGGAGGCCCCCC	0.667																																						ENST00000374417.2																			0				NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(301-303)Gga>Aga		Ras association (RalGDS/AF-6) domain family member 4							79.0	94.0	89.0					10																	45480280		2203	4300	6503	SO:0001583	missense	83937				cell cycle|signal transduction		protein binding	g.chr10:45480280G>A	BC032593	CCDS7208.1	10q11.1	2008-02-22	2008-02-22		ENSG00000107551	ENSG00000107551			20793	protein-coding gene	gene with protein product		610559					Standard	NM_032023		Approved	AD037, MGC44914	uc001jbo.3	Q9H2L5	OTTHUMG00000018060	ENST00000374417.2:c.301G>A	10.37:g.45480280G>A	ENSP00000363538:p.Gly101Arg					RASSF4_ENST00000472561.1_3'UTR|RASSF4_ENST00000334940.6_Silent_p.E140E|RASSF4_ENST00000340258.4_Silent_p.E131E	p.G101R			Q9H2L5	RASF4_HUMAN			5	435	+			101					Q00425|Q5TFT8|Q9BQL3|Q9H071	Missense_Mutation	SNP	ENST00000374417.2	37	c.301G>A		.	.	.	.	.	.	.	.	.	.	G	13.17	2.157110	0.38119	.	.	ENSG00000107551	ENST00000374417	T	0.28069	1.63	5.96	3.14	0.36123	.	.	.	.	.	T	0.22551	0.0544	.	.	.	0.21719	N	0.999577	.	.	.	.	.	.	T	0.22730	-1.0208	6	0.16420	T	0.52	-12.5232	10.6308	0.45534	0.1903:0.0:0.8097:0.0	.	.	.	.	R	101	ENSP00000363538:G101R	ENSP00000363538:G101R	G	+	1	0	RASSF4	44800286	1.000000	0.71417	0.682000	0.30024	0.638000	0.38207	1.152000	0.31663	0.431000	0.26258	0.655000	0.94253	GGA		0.667	RASSF4-202	KNOWN	basic	protein_coding	protein_coding		NM_032023		26	205	0	0	0	0.706142	0	26	205				
KDM6B	23135	broad.mit.edu	37	17	7755572	7755572	+	Silent	SNP	G	G	A			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr17:7755572G>A	ENST00000448097.2	+	19	4717	c.4386G>A	c.(4384-4386)gtG>gtA	p.V1462V	KDM6B_ENST00000254846.5_Silent_p.V1462V|TMEM88_ENST00000301599.6_5'Flank|TMEM88_ENST00000574668.1_5'Flank			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1462	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GAGACCTCGTGTGGATTAATG	0.607											OREG0024145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000254846.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(4384-4386)gtG>gtA		lysine (K)-specific demethylase 6B							104.0	103.0	103.0					17																	7755572		2203	4300	6503	SO:0001819	synonymous_variant	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7755572G>A	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.4386G>A	17.37:g.7755572G>A			OREG0024145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	644	KDM6B_ENST00000448097.2_Silent_p.V1462V	p.V1462V	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN			19	4775	+			1462			JmjC.		C9IZ40|Q96G33	Silent	SNP	ENST00000448097.2	37	c.4386G>A																																																																																					0.607	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		31	106	0	0	0	0.788014	0	31	106				
GYPE	2996	broad.mit.edu	37	4	144826671	144826671	+	De_novo_Start_OutOfFrame	SNP	C	C	T	rs368795769		TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr4:144826671C>T	ENST00000358615.4	-	0	41				GYPE_ENST00000437468.2_De_novo_Start_OutOfFrame	NM_198682.2	NP_941391.2	P15421	GLPE_HUMAN	glycophorin E (MNS blood group)							integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_hematologic(180;0.158)					CCTGAGATCACGAGCTGGCTC	0.398																																						ENST00000358615.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5								glycophorin E (MNS blood group)							100.0	101.0	101.0					4																	144826671		2203	4300	6503			2996					integral to plasma membrane		g.chr4:144826671C>T		CCDS47138.1	4q31.21	2010-01-19	2010-01-19		ENSG00000197465	ENSG00000197465		"""Blood group antigens"""	4705	protein-coding gene	gene with protein product		138590	"""glycophorin E"""				Standard	NM_198682		Approved	GPE, MNS	uc003ijj.3	P15421	OTTHUMG00000161402	ENST00000358615.4:c.-11G>A	4.37:g.144826671C>T						GYPE_ENST00000437468.2_De_novo_Start_OutOfFrame		NM_198682.2	NP_941391.2	P15421	GLPE_HUMAN			0	41	-	all_hematologic(180;0.158)							D3DNZ5	Translation_Start_Site	SNP	ENST00000358615.4	37		CCDS47138.1																																																																																				0.398	GYPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364780.1	NM_002102		4	80	0	0	0	0.150653	0	4	80				
CALCA	796	broad.mit.edu	37	11	14989331	14989331	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr11:14989331G>T	ENST00000486207.1	-	3	305	c.297C>A	c.(295-297)agC>agA	p.S99R	CALCB_ENST00000523376.1_Intron|CALCA_ENST00000361010.3_Missense_Mutation_p.S99R			P06881	CALCA_HUMAN	calcitonin-related polypeptide alpha	99					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|cytosolic calcium ion homeostasis (GO:0051480)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|G-protein coupled receptor internalization (GO:0002031)|leukocyte cell-cell adhesion (GO:0007159)|negative regulation of blood pressure (GO:0045776)|negative regulation of bone resorption (GO:0045779)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of osteoclast differentiation (GO:0045671)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of vasodilation (GO:0045909)|protein phosphorylation (GO:0006468)|receptor internalization (GO:0031623)|regulation of blood pressure (GO:0008217)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	protein complex binding (GO:0032403)|receptor binding (GO:0005102)			central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8						CCCCTGATCTGCTCAGCAAGC	0.542																																						ENST00000361010.3																			0				central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8						c.(295-297)agC>agA		calcitonin-related polypeptide alpha	Phentolamine(DB00692)						76.0	74.0	74.0					11																	14989331		2200	4294	6494	SO:0001583	missense	796				activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation	cytosol|extracellular space	hormone activity	g.chr11:14989331G>T	X00356, M64486	CCDS7819.1, CCDS31432.1	11p15.2	2014-09-17	2008-02-20		ENSG00000110680	ENSG00000110680		"""Endogenous ligands"""	1437	protein-coding gene	gene with protein product	"""calcitonin"""	114130	"""calcitonin 1"""	CALC1		6546550	Standard	NM_001033953		Approved		uc001mlw.1	P01258	OTTHUMG00000159731	ENST00000486207.1:c.297C>A	11.37:g.14989331G>T	ENSP00000417833:p.Ser99Arg					CALCA_ENST00000486207.1_Missense_Mutation_p.S99R|CALCB_ENST00000523376.1_Intron	p.S99R	NM_001033953.2	NP_001029125.1	P06881	CALCA_HUMAN			4	371	-			99					Q93048|Q9UCP0	Missense_Mutation	SNP	ENST00000486207.1	37	c.297C>A	CCDS31432.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.705940	0.48412	.	.	ENSG00000110680	ENST00000486207;ENST00000361010	T;T	0.24151	1.87;1.87	4.69	4.69	0.59074	Calcitonin peptide-like (1);	.	.	.	.	T	0.35537	0.0935	M	0.87547	2.89	0.80722	D	1	B	0.20368	0.044	B	0.24701	0.055	T	0.13899	-1.0492	9	0.24483	T	0.36	.	13.279	0.60205	0.0775:0.0:0.9225:0.0	.	99	P06881	CALCA_HUMAN	R	99	ENSP00000417833:S99R;ENSP00000354286:S99R	ENSP00000354286:S99R	S	-	3	2	CALCA	14945907	1.000000	0.71417	0.721000	0.30653	0.603000	0.37013	6.021000	0.70832	2.894000	0.99253	0.655000	0.94253	AGC		0.542	CALCA-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357068.1	NM_001741		27	81	1	0	3.01185e-09	0.667858	3.50314e-09	27	81				
SIRPD	128646	broad.mit.edu	37	20	1532406	1532406	+	Missense_Mutation	SNP	C	C	T	rs561939776		TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr20:1532406C>T	ENST00000381623.3	-	2	1541	c.352G>A	c.(352-354)Gtg>Atg	p.V118M	SIRPD_ENST00000381621.1_Missense_Mutation_p.V118M			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	118	Ig-like V-type.					extracellular region (GO:0005576)				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						ATGAACTTCACGCAGTAATAG	0.488													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18562	0.0		0.0	False		,,,				2504	0.0					ENST00000381623.3																			0				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						c.(352-354)Gtg>Atg		signal-regulatory protein delta							148.0	142.0	144.0					20																	1532406		2203	4300	6503	SO:0001583	missense	128646					extracellular region		g.chr20:1532406C>T	AL049634	CCDS13018.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000125900	ENSG00000125900		"""Signal-regulatory proteins"", ""Immunoglobulin superfamily / V-set domain containing"""	16248	protein-coding gene	gene with protein product			"""protein tyrosine phosphatase, non-receptor type substrate 1-like 2"""	PTPNS1L2		16339511	Standard	NM_178460		Approved	dJ576H24.4	uc002wfi.3	Q9H106	OTTHUMG00000031674	ENST00000381623.3:c.352G>A	20.37:g.1532406C>T	ENSP00000371036:p.Val118Met					SIRPD_ENST00000381621.1_Missense_Mutation_p.V118M	p.V118M			Q9H106	SIRPD_HUMAN			2	1541	-			118			Ig-like V-type.		B3KS88|Q5TFQ6	Missense_Mutation	SNP	ENST00000381623.3	37	c.352G>A	CCDS13018.1	.	.	.	.	.	.	.	.	.	.	C	7.798	0.712981	0.15306	.	.	ENSG00000125900	ENST00000381623;ENST00000381621	T;T	0.66099	-0.19;0.92	3.69	1.65	0.23941	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.472506	0.15206	U	0.274725	T	0.48040	0.1478	L	0.58302	1.8	0.21604	N	0.999621	P	0.52842	0.956	B	0.36186	0.219	T	0.47058	-0.9146	10	0.56958	D	0.05	.	4.5618	0.12163	0.2156:0.665:0.0:0.1194	.	118	Q9H106	SIRPD_HUMAN	M	118	ENSP00000371036:V118M;ENSP00000371034:V118M	ENSP00000371034:V118M	V	-	1	0	SIRPD	1480406	0.987000	0.35691	0.499000	0.27577	0.162000	0.22319	0.644000	0.24766	0.325000	0.23359	-0.261000	0.10672	GTG		0.488	SIRPD-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077552.1	NM_178460		22	100	0	0	0	0.608945	0	22	100				
CNTLN	54875	broad.mit.edu	37	9	17236462	17236462	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr9:17236462A>T	ENST00000380647.3	+	5	809	c.725A>T	c.(724-726)aAt>aTt	p.N242I	CNTLN_ENST00000380641.4_Missense_Mutation_p.N242I|CNTLN_ENST00000425824.1_Missense_Mutation_p.N242I|CNTLN_ENST00000262360.5_Missense_Mutation_p.N242I			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	242					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GTTATAAAAAATCTGGAGGAG	0.378																																						ENST00000380647.3																			0				breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(724-726)aAt>aTt		centlein, centrosomal protein							90.0	91.0	91.0					9																	17236462		1819	4080	5899	SO:0001583	missense	54875					centriole|membrane	two-component sensor activity	g.chr9:17236462A>T	AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.725A>T	9.37:g.17236462A>T	ENSP00000370021:p.Asn242Ile					CNTLN_ENST00000380641.4_Missense_Mutation_p.N242I|CNTLN_ENST00000425824.1_Missense_Mutation_p.N242I|CNTLN_ENST00000262360.5_Missense_Mutation_p.N242I	p.N242I			Q9NXG0	CNTLN_HUMAN		GBM - Glioblastoma multiforme(50;6.14e-10)	5	809	+			242					A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	ENST00000380647.3	37	c.725A>T	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	A	13.59	2.282940	0.40394	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360;ENST00000380641	T;T;T;T	0.06528	3.29;3.29;3.29;3.29	5.59	0.495	0.16890	.	.	.	.	.	T	0.10637	0.0260	L	0.56769	1.78	0.24366	N	0.994854	P;P;P	0.50617	0.773;0.773;0.937	B;B;P	0.49999	0.41;0.366;0.628	T	0.16897	-1.0387	9	0.56958	D	0.05	.	6.1022	0.20053	0.6699:0.1256:0.2045:0.0	.	242;242;242	C9J1F9;Q9NXG0-2;Q9NXG0-3	.;.;.	I	242	ENSP00000370021:N242I;ENSP00000392798:N242I;ENSP00000262360:N242I;ENSP00000370015:N242I	ENSP00000262360:N242I	N	+	2	0	CNTLN	17226462	0.988000	0.35896	0.984000	0.44739	0.786000	0.44442	1.064000	0.30579	-0.154000	0.11118	-0.256000	0.11100	AAT		0.378	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		30	142	0	0	0	0.740014	0	30	142				
SPRTN	83932	broad.mit.edu	37	1	231488769	231488769	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr1:231488769T>C	ENST00000295050.7	+	5	1468	c.1132T>C	c.(1132-1134)Tcc>Ccc	p.S378P	SPRTN_ENST00000391858.4_3'UTR	NM_001010984.2|NM_032018.5	NP_001010984.1|NP_114407.3	Q9H040	SPRTN_HUMAN	SprT-like N-terminal domain	378					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of protein ubiquitination (GO:0031398)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|K63-linked polyubiquitin binding (GO:0070530)|metal ion binding (GO:0046872)|ubiquitin binding (GO:0043130)										TTCTAAGATATCCCTAAGAAA	0.418																																						ENST00000295050.7																			0											c.(1132-1134)Tcc>Ccc		SprT-like N-terminal domain							77.0	78.0	78.0					1																	231488769		2203	4300	6503	SO:0001583	missense	83932							g.chr1:231488769T>C	AL512744	CCDS1594.1, CCDS31054.1, CCDS58066.1	1q42.12-q43	2013-01-30	2012-06-18	2012-06-18	ENSG00000010072	ENSG00000010072			25356	protein-coding gene	gene with protein product	"""SprT-like domain at the N terminus"", ""DNA damage-targeting VCP (p97) adaptor"""		"""chromosome 1 open reading frame 124"""	C1orf124		22681887	Standard	NM_032018		Approved	DKFZP547N043, Spartan, DVC1	uc001hur.4	Q9H040	OTTHUMG00000038022	ENST00000295050.7:c.1132T>C	1.37:g.231488769T>C	ENSP00000295050:p.Ser378Pro					SPRTN_ENST00000391858.4_3'UTR	p.S378P	NM_001010984.2|NM_032018.5	NP_001010984.1|NP_114407.3					5	1468	+								B1AKT0|B5MEF7|Q5TE78|Q6UWW6|Q96BC5|Q96KA0	Missense_Mutation	SNP	ENST00000295050.7	37	c.1132T>C	CCDS1594.1	.	.	.	.	.	.	.	.	.	.	T	10.21	1.288810	0.23478	.	.	ENSG00000010072	ENST00000295050	T	0.45668	0.89	4.2	-6.74	0.01743	.	1.378850	0.04291	N	0.345475	T	0.25044	0.0608	L	0.32530	0.975	0.19775	N	0.999957	B	0.06786	0.001	B	0.04013	0.001	T	0.10917	-1.0609	10	0.24483	T	0.36	-0.4441	3.6561	0.08221	0.098:0.2016:0.4358:0.2646	.	378	Q9H040	CA124_HUMAN	P	378	ENSP00000295050:S378P	ENSP00000295050:S378P	S	+	1	0	C1orf124	229555392	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.090000	0.00609	-1.364000	0.02161	0.523000	0.50628	TCC		0.418	SPRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092858.1	NM_032018		25	77	0	0	0	0.639603	0	25	77				
ZNF418	147686	broad.mit.edu	37	19	58438767	58438767	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr19:58438767C>A	ENST00000396147.1	-	4	1073	c.782G>T	c.(781-783)gGa>gTa	p.G261V	ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000599852.1_Missense_Mutation_p.G176V|ZNF418_ENST00000425570.3_Missense_Mutation_p.G282V|ZNF418_ENST00000599086.1_5'Flank|ZNF418_ENST00000595830.1_Missense_Mutation_p.G261V	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	261					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		CCCACATTCTCCACATTCATA	0.418																																						ENST00000396147.1																			0				cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31						c.(781-783)gGa>gTa		zinc finger protein 418							66.0	69.0	68.0					19																	58438767		2183	4287	6470	SO:0001583	missense	147686				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58438767C>A	AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724		"""Zinc fingers, C2H2-type"", ""-"""	20647	protein-coding gene	gene with protein product						11853319	Standard	NM_133460		Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.782G>T	19.37:g.58438767C>A	ENSP00000379451:p.Gly261Val					ZNF418_ENST00000599852.1_Missense_Mutation_p.G176V|ZNF418_ENST00000425570.3_Missense_Mutation_p.G282V|ZNF418_ENST00000595830.1_Missense_Mutation_p.G261V|ZNF418_ENST00000600989.1_Intron	p.G261V	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)	4	1073	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	261					Q2M1S2|Q670L5|Q96N18	Missense_Mutation	SNP	ENST00000396147.1	37	c.782G>T	CCDS42642.1	.	.	.	.	.	.	.	.	.	.	.	4.101	0.016766	0.07959	.	.	ENSG00000196724	ENST00000396147;ENST00000425570;ENST00000545403	T;T	0.07444	3.19;3.19	2.46	-2.79	0.05841	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04861	0.0131	N	0.20845	0.615	0.09310	N	1	P	0.34462	0.454	B	0.34652	0.187	T	0.38045	-0.9679	9	0.66056	D	0.02	.	4.349	0.11146	0.0:0.2106:0.3431:0.4463	.	261	Q8TF45	ZN418_HUMAN	V	261;282;227	ENSP00000379451:G261V;ENSP00000407039:G282V	ENSP00000379451:G261V	G	-	2	0	ZNF418	63130579	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	-1.427000	0.02441	-0.350000	0.08262	-0.396000	0.06452	GGA		0.418	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466693.1	NM_133460		15	210	1	0	1.3612e-06	0.479597	1.51862e-06	15	210				
BTBD9	114781	broad.mit.edu	37	6	38256211	38256211	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr6:38256211C>A	ENST00000481247.1	-	8	1442	c.1291G>T	c.(1291-1293)Gct>Tct	p.A431S	BTBD9_ENST00000403056.1_Missense_Mutation_p.A431S|BTBD9_ENST00000408958.1_Missense_Mutation_p.A363S|BTBD9_ENST00000419706.2_Missense_Mutation_p.A401S|BTBD9_ENST00000314100.6_Missense_Mutation_p.A363S	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	431					adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|circadian sleep/wake cycle, non-REM sleep (GO:0042748)|long-term memory (GO:0007616)|multicellular organismal iron ion homeostasis (GO:0060586)|regulation of synaptic vesicle endocytosis (GO:1900242)|sensory perception of temperature stimulus (GO:0050951)|serotonin metabolic process (GO:0042428)					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						GCACAATCAGCAATTGTTGCA	0.428																																						ENST00000481247.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						c.(1291-1293)Gct>Tct		BTB (POZ) domain containing 9							93.0	96.0	95.0					6																	38256211		2189	4284	6473	SO:0001583	missense	114781				cell adhesion			g.chr6:38256211C>A		CCDS43458.1, CCDS47418.1, CCDS54998.1	6p21	2014-01-28			ENSG00000183826	ENSG00000183826		"""BTB/POZ domain containing"""	21228	protein-coding gene	gene with protein product		611237				11572484	Standard	NM_052893		Approved	KIAA1880, dJ322I12.1	uc010jwx.3	Q96Q07	OTTHUMG00000014634	ENST00000481247.1:c.1291G>T	6.37:g.38256211C>A	ENSP00000418751:p.Ala431Ser					BTBD9_ENST00000314100.6_Missense_Mutation_p.A363S|BTBD9_ENST00000403056.1_Missense_Mutation_p.A431S|BTBD9_ENST00000408958.1_Missense_Mutation_p.A363S|BTBD9_ENST00000419706.2_Missense_Mutation_p.A401S	p.A431S	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN			8	1442	-			431					Q494V9|Q494W1|Q96M00	Missense_Mutation	SNP	ENST00000481247.1	37	c.1291G>T	CCDS47418.1	.	.	.	.	.	.	.	.	.	.	C	11.81	1.750483	0.30955	.	.	ENSG00000183826	ENST00000314100;ENST00000481247;ENST00000419706;ENST00000403056;ENST00000408958	T;T;T;T;T	0.72282	-0.64;-0.47;-0.6;-0.47;-0.64	6.17	4.38	0.52667	Galactose-binding domain-like (1);	0.355218	0.29417	N	0.012214	T	0.27098	0.0664	N	0.04636	-0.2	0.40094	D	0.976284	B;B	0.14012	0.009;0.0	B;B	0.13407	0.009;0.001	T	0.13899	-1.0492	10	0.09843	T	0.71	.	14.5905	0.68362	0.3829:0.6171:0.0:0.0	.	401;431	Q494V9;Q96Q07	.;BTBD9_HUMAN	S	363;431;401;431;363	ENSP00000323408:A363S;ENSP00000418751:A431S;ENSP00000415365:A401S;ENSP00000386121:A431S;ENSP00000386211:A363S	ENSP00000323408:A363S	A	-	1	0	BTBD9	38364189	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	2.885000	0.48570	0.913000	0.36797	-0.169000	0.13324	GCT		0.428	BTBD9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040433.2	NM_152733		18	75	1	0	5.35267e-07	0.557998	6.05405e-07	18	75				
RPS10P7	376693	broad.mit.edu	37	1	201489431	201489431	+	lincRNA	SNP	C	C	A			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr1:201489431C>A	ENST00000441932.1	+	0	1601				RP11-134G8.7_ENST00000454651.1_RNA	NR_026667.1				ribosomal protein S10 pseudogene 7																		TGATTACCTTCATCTGCCCTC	0.537																																						ENST00000441932.1																			0																																																			376693							g.chr1:201489431C>A			1q32.1	2010-06-16				ENSG00000223396			36423	pseudogene	pseudogene						19123937	Standard	NR_026667		Approved		uc010ppt.3				1.37:g.201489431C>A						RP11-134G8.7_ENST00000454651.1_RNA		NR_026667.1						0	1601	+									RNA	SNP	ENST00000441932.1	37																																																																																						0.537	RPS10P7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000087024.1	NR_026667		6	16	1	0	3.59834e-05	0.217242	3.93418e-05	6	16				
ALPK1	80216	broad.mit.edu	37	4	113359713	113359713	+	Missense_Mutation	SNP	G	G	C	rs551402838		TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr4:113359713G>C	ENST00000458497.1	+	13	3541	c.3262G>C	c.(3262-3264)Gca>Cca	p.A1088P	ALPK1_ENST00000177648.9_Missense_Mutation_p.A1088P|ALPK1_ENST00000504176.2_Missense_Mutation_p.A1010P	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1088	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		ACAGATGACCGCACAGCACTA	0.428																																						ENST00000458497.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53						c.(3262-3264)Gca>Cca		alpha-kinase 1							172.0	160.0	164.0					4																	113359713		2203	4300	6503	SO:0001583	missense	80216						ATP binding|protein serine/threonine kinase activity	g.chr4:113359713G>C	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.3262G>C	4.37:g.113359713G>C	ENSP00000398048:p.Ala1088Pro					ALPK1_ENST00000177648.9_Missense_Mutation_p.A1088P|ALPK1_ENST00000504176.2_Missense_Mutation_p.A1010P	p.A1088P	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	13	3541	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	1088			Alpha-type protein kinase.		B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	37	c.3262G>C	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	G	31	5.066565	0.93898	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.15718	2.4;2.4;2.4	5.5	5.5	0.81552	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.51584	0.1683	M	0.89353	3.025	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.60058	-0.7337	10	0.87932	D	0	-21.8173	19.3832	0.94545	0.0:0.0:1.0:0.0	.	1010;1010;1088	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	P	1088;1088;1010	ENSP00000398048:A1088P;ENSP00000177648:A1088P;ENSP00000426044:A1010P	ENSP00000177648:A1088P	A	+	1	0	ALPK1	113579162	1.000000	0.71417	0.958000	0.39756	0.876000	0.50452	7.415000	0.80131	2.587000	0.87381	0.555000	0.69702	GCA		0.428	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		39	151	0	0	0	0.819951	0	39	151				
DEPDC7	91614	broad.mit.edu	37	11	33054967	33054967	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr11:33054967A>T	ENST00000241051.3	+	9	1594	c.1502A>T	c.(1501-1503)cAc>cTc	p.H501L	DEPDC7_ENST00000311388.3_Missense_Mutation_p.H492L	NM_001077242.1	NP_001070710.1	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	501					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						TATAAGTGTCACCCAGACATC	0.299																																						ENST00000311388.3																			0				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						c.(1474-1476)cAc>cTc		DEP domain containing 7							82.0	81.0	81.0					11																	33054967		1796	4056	5852	SO:0001583	missense	91614				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:33054967A>T		CCDS41632.1, CCDS41633.1	11p13	2006-03-24			ENSG00000121690	ENSG00000121690			29899	protein-coding gene	gene with protein product		612294				10568747	Standard	NM_001077242		Approved		uc001mub.3	Q96QD5	OTTHUMG00000166242	ENST00000241051.3:c.1502A>T	11.37:g.33054967A>T	ENSP00000241051:p.His501Leu					DEPDC7_ENST00000241051.3_Missense_Mutation_p.H501L	p.H492L	NM_139160.2	NP_631899.2	Q96QD5	DEPD7_HUMAN			9	1851	+			501					G5E941|Q8N602|Q8NCU9|Q9UGK5	Missense_Mutation	SNP	ENST00000241051.3	37	c.1475A>T	CCDS41632.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.172347	0.78452	.	.	ENSG00000121690	ENST00000241051;ENST00000311388	D;D	0.82803	-1.65;-1.65	5.25	5.25	0.73442	.	0.047246	0.85682	D	0.000000	D	0.89054	0.6606	M	0.79475	2.455	0.54753	D	0.999981	D;P	0.58970	0.984;0.651	P;B	0.56700	0.804;0.163	D	0.90699	0.4619	10	0.87932	D	0	-4.3266	15.4555	0.75311	1.0:0.0:0.0:0.0	.	492;501	G5E941;Q96QD5	.;DEPD7_HUMAN	L	501;492	ENSP00000241051:H501L;ENSP00000308971:H492L	ENSP00000241051:H501L	H	+	2	0	DEPDC7	33011543	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	8.870000	0.92336	2.105000	0.64084	0.455000	0.32223	CAC		0.299	DEPDC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388655.1	NM_139160		35	108	0	0	0	0.796494	0	35	108				
MDC1	9656	broad.mit.edu	37	6	30680344	30680344	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr6:30680344C>T	ENST00000376406.3	-	5	2022	c.1375G>A	c.(1375-1377)Gag>Aag	p.E459K	MDC1_ENST00000494654.1_5'Flank|MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.E459K	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	459	Required for nuclear localization (NLS1).				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						AGCTCTTCCTCCTCCACGTCT	0.493								Other conserved DNA damage response genes																														ENST00000376406.3																			0				breast(2)|kidney(1)|ovary(1)	4						c.(1375-1377)Gag>Aag	Other conserved DNA damage response genes	mediator of DNA-damage checkpoint 1							104.0	110.0	108.0					6																	30680344		1510	2708	4218	SO:0001583	missense	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30680344C>T	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.1375G>A	6.37:g.30680344C>T	ENSP00000365588:p.Glu459Lys					MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.E459K	p.E459K	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN			5	2022	-			459			Required for nuclear localization (NLS1).		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.1375G>A	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.592728	0.66219	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.06449	3.44;3.3	5.39	4.53	0.55603	.	0.238486	0.21535	N	0.072993	T	0.05547	0.0146	L	0.58810	1.83	0.34362	D	0.691053	P;P;P;B	0.50943	0.94;0.886;0.759;0.275	P;P;B;B	0.49421	0.61;0.59;0.406;0.096	T	0.26950	-1.0088	10	0.42905	T	0.14	-10.0846	9.8731	0.41187	0.0:0.9055:0.0:0.0945	.	459;331;459;459	Q14676-2;B4DYH4;Q14676;Q14676-4	.;.;MDC1_HUMAN;.	K	459;459;459;331	ENSP00000365588:E459K;ENSP00000365587:E459K	ENSP00000365587:E459K	E	-	1	0	MDC1	30788323	0.987000	0.35691	0.589000	0.28718	0.703000	0.40648	1.406000	0.34646	1.289000	0.44618	0.561000	0.74099	GAG		0.493	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		35	133	0	0	0	0.796494	0	35	133				
MAGEL2	54551	broad.mit.edu	37	15	23890513	23890513	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr15:23890513T>A	ENST00000532292.1	-	1	662	c.568A>T	c.(568-570)Acc>Tcc	p.T190S		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	73					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		AACTGGGAGGTAGCTGGGAAG	0.582																																						ENST00000532292.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(568-570)Acc>Tcc		MAGE-like 2							68.0	74.0	72.0					15																	23890513		2031	4198	6229	SO:0001583	missense	54551							g.chr15:23890513T>A	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.568A>T	15.37:g.23890513T>A	ENSP00000433433:p.Thr190Ser						p.T190S	NM_019066.4	NP_061939.3				all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)	1	662	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)							Missense_Mutation	SNP	ENST00000532292.1	37	c.568A>T																																																																																					0.582	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		19	79	0	0	0	0.575678	0	19	79				
SDC2	6383	broad.mit.edu	37	8	97614673	97614673	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr8:97614673C>T	ENST00000302190.4	+	3	1144	c.223C>T	c.(223-225)Cca>Tca	p.P75S	SDC2_ENST00000522911.1_Missense_Mutation_p.P46S|SDC2_ENST00000518385.1_Missense_Mutation_p.P39S|SDC2_ENST00000519914.1_Missense_Mutation_p.P46S	NM_002998.3	NP_002989.2	P34741	SDC2_HUMAN	syndecan 2	75					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dendrite morphogenesis (GO:0048813)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|regulation of dendrite morphogenesis (GO:0048814)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)			breast(1)|cervix(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|stomach(2)	16	Breast(36;3.41e-05)				Sargramostim(DB00020)	TCGACCACTTCCAAAGATACT	0.448																																						ENST00000302190.4																			0				breast(1)|cervix(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|stomach(2)	16						c.(223-225)Cca>Tca		syndecan 2	Sargramostim(DB00020)						189.0	171.0	177.0					8																	97614673		2203	4300	6503	SO:0001583	missense	6383					integral to plasma membrane	cytoskeletal protein binding|PDZ domain binding	g.chr8:97614673C>T	BC030133	CCDS6272.1	8q22-q23	2011-08-11	2007-02-15		ENSG00000169439	ENSG00000169439		"""Proteoglycans / Cell Surface : Syndecans"", ""CD molecules"""	10659	protein-coding gene	gene with protein product	"""syndecan proteoglycan 2"""	142460	"""heparan sulfate proteoglycan 1, cell surface-associated"""	HSPG, HSPG1		8187643	Standard	NM_002998		Approved	fibroglycan, SYND2, CD362	uc003yhv.1	P34741	OTTHUMG00000164689	ENST00000302190.4:c.223C>T	8.37:g.97614673C>T	ENSP00000307046:p.Pro75Ser					SDC2_ENST00000518385.1_Missense_Mutation_p.P39S|SDC2_ENST00000522911.1_Missense_Mutation_p.P46S|SDC2_ENST00000519914.1_Missense_Mutation_p.P46S	p.P75S	NM_002998.3	NP_002989.2	P34741	SDC2_HUMAN			3	1144	+	Breast(36;3.41e-05)		75					B3KQA3|Q6PIS6|Q9H6V1	Missense_Mutation	SNP	ENST00000302190.4	37	c.223C>T	CCDS6272.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.899032	0.52227	.	.	ENSG00000169439	ENST00000302190;ENST00000518385;ENST00000545117;ENST00000546193;ENST00000522911;ENST00000519914;ENST00000521590;ENST00000523877	T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21	5.13	4.24	0.50183	.	0.290468	0.38663	N	0.001610	T	0.43255	0.1239	M	0.70275	2.135	0.45172	D	0.998187	B	0.28128	0.201	B	0.35413	0.202	T	0.41662	-0.9496	10	0.46703	T	0.11	-4.7602	14.27	0.66147	0.0:0.8512:0.1488:0.0	.	75	P34741	SDC2_HUMAN	S	75;39;75;65;46;46;46;46	ENSP00000307046:P75S;ENSP00000429045:P39S;ENSP00000427784:P46S;ENSP00000428256:P46S;ENSP00000429121:P46S	ENSP00000307046:P75S	P	+	1	0	SDC2	97683849	1.000000	0.71417	0.430000	0.26722	0.965000	0.64279	3.120000	0.50430	1.273000	0.44346	0.655000	0.94253	CCA		0.448	SDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379750.1	NM_002998		36	148	0	0	0	0.769981	0	36	148				
CCL1	6346	broad.mit.edu	37	17	32688914	32688914	+	Splice_Site	SNP	C	C	T			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr17:32688914C>T	ENST00000225842.3	-	2	147	c.78G>A	c.(76-78)atG>atA	p.M26I		NM_002981.1	NP_002972.1	P22362	CCL1_HUMAN	chemokine (C-C motif) ligand 1	26					cell chemotaxis (GO:0060326)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|immune response (GO:0006955)|signal transduction (GO:0007165)|viral process (GO:0016032)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)						Ovarian(249;0.0443)|Breast(31;0.133)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)		AGGGTACCTGCACTAGAAGAG	0.453											OREG0024322	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000225842.3																			0											c.e2-1		chemokine (C-C motif) ligand 1							87.0	84.0	85.0					17																	32688914		2203	4300	6503	SO:0001630	splice_region_variant	6346				cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction	extracellular space	chemokine activity	g.chr17:32688914C>T	M57506	CCDS11282.1	17q11.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000108702	ENSG00000108702		"""Endogenous ligands"""	10609	protein-coding gene	gene with protein product	"""inflammatory cytokine I-309"", ""T lymphocyte-secreted protein I-309"""	182281	"""small inducible cytokine A1 (I-309, homologous to mouse Tca-3)"""	SCYA1		2212659, 10409433	Standard	NM_002981		Approved	I-309, TCA3, P500, SISe	uc002hid.1	P22362	OTTHUMG00000132888	ENST00000225842.3:c.77-1G>A	17.37:g.32688914C>T			OREG0024322	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	834		p.M26_splice	NM_002981.1	NP_002972.1	P22362	CCL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)	2	147	-		Ovarian(249;0.0443)|Breast(31;0.133)	26					B2R5G9|Q2M309	Splice_Site	SNP	ENST00000225842.3	37	c.76_splice	CCDS11282.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.998424	0.35226	.	.	ENSG00000108702	ENST00000225842	T	0.02974	4.09	4.52	1.38	0.22167	Chemokine interleukin-8-like domain (1);	0.969423	0.08521	N	0.933513	T	0.02571	0.0078	.	.	.	0.23266	N	0.998012	P	0.38978	0.652	B	0.40940	0.344	T	0.47446	-0.9117	9	0.22706	T	0.39	.	4.0203	0.09662	0.1854:0.6196:0.0:0.195	.	26	P22362	CCL1_HUMAN	I	26	ENSP00000225842:M26I	ENSP00000225842:M26I	M	-	3	0	CCL1	29713027	0.987000	0.35691	0.979000	0.43373	0.005000	0.04900	0.228000	0.17814	0.389000	0.25086	-0.145000	0.13849	ATG		0.453	CCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256385.2	NM_002981	Missense_Mutation	41	130	0	0	0	0.819951	0	41	130				
SLC43A3	29015	broad.mit.edu	37	11	57176684	57176684	+	Silent	SNP	G	G	A			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr11:57176684G>A	ENST00000395123.2	-	13	1639	c.1335C>T	c.(1333-1335)acC>acT	p.T445T	SLC43A3_ENST00000352187.1_Silent_p.T445T|SLC43A3_ENST00000529554.1_Silent_p.T445T|RP11-872D17.8_ENST00000529411.1_Silent_p.T89T|SLC43A3_ENST00000395124.1_Silent_p.T445T|SLC43A3_ENST00000533524.1_Silent_p.T458T	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	445					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						CTTTGATGAGGGTGAAGATGG	0.567																																						ENST00000395123.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						c.(1333-1335)acC>acT		solute carrier family 43, member 3							138.0	132.0	134.0					11																	57176684		2201	4296	6497	SO:0001819	synonymous_variant	29015				transmembrane transport	integral to membrane		g.chr11:57176684G>A	AL157431	CCDS7956.1, CCDS60784.1	11q11	2013-05-22			ENSG00000134802	ENSG00000134802		"""Solute carriers"""	17466	protein-coding gene	gene with protein product	"""likely ortholog of mouse embryonic epithelial gene 1"""					7531438, 11704567	Standard	NM_017611		Approved	SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659	uc001nki.3	Q8NBI5	OTTHUMG00000167113	ENST00000395123.2:c.1335C>T	11.37:g.57176684G>A						SLC43A3_ENST00000395124.1_Silent_p.T445T|SLC43A3_ENST00000352187.1_Silent_p.T445T|SLC43A3_ENST00000533524.1_Silent_p.T458T|SLC43A3_ENST00000529554.1_Silent_p.T445T|RP11-872D17.8_ENST00000529411.1_Silent_p.T89T	p.T445T	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN			13	1639	-			445					B4DNR8|E7EQD2|Q9NSS4	Silent	SNP	ENST00000395123.2	37	c.1335C>T	CCDS7956.1																																																																																				0.567	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393057.1	NM_017611		45	168	0	0	0	0.853193	0	45	168				
ARID2	196528	broad.mit.edu	37	12	46244170	46244170	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr12:46244170C>T	ENST00000334344.6	+	15	2436	c.2264C>T	c.(2263-2265)aCa>aTa	p.T755I	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.T365I|ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000422737.1_Missense_Mutation_p.T606I	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	755					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CAACCTGTTACAGTTGTGAAT	0.478			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(2263-2265)aCa>aTa		AT rich interactive domain 2 (ARID, RFX-like)							85.0	76.0	79.0					12																	46244170		2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46244170C>T		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.2264C>T	12.37:g.46244170C>T	ENSP00000335044:p.Thr755Ile					ARID2_ENST00000422737.1_Missense_Mutation_p.T606I|ARID2_ENST00000444670.1_Missense_Mutation_p.T365I|ARID2_ENST00000479608.1_3'UTR	p.T755I	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	2436	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	755					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.2264C>T	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.877177	0.72180	.	.	ENSG00000189079	ENST00000334344;ENST00000422737;ENST00000444670	T	0.35605	1.3	5.97	5.97	0.96955	.	0.221994	0.47093	D	0.000254	T	0.45856	0.1363	L	0.29908	0.895	0.80722	D	1	D;B;P	0.55385	0.971;0.235;0.808	P;P;B	0.55455	0.776;0.512;0.299	T	0.28427	-1.0044	10	0.54805	T	0.06	-5.4616	20.428	0.99075	0.0:1.0:0.0:0.0	.	755;365;755	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	I	755;606;365	ENSP00000335044:T755I	ENSP00000335044:T755I	T	+	2	0	ARID2	44530437	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.036000	0.70948	2.837000	0.97791	0.655000	0.94253	ACA		0.478	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		20	87	0	0	0	0.575678	0	20	87				
OR52E4	390081	broad.mit.edu	37	11	5905705	5905705	+	Missense_Mutation	SNP	G	G	T	rs200226524		TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr11:5905705G>T	ENST00000316987.2	+	1	205	c.183G>T	c.(181-183)atG>atT	p.M61I		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	61						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCAGCCCATGTTCTACTTCC	0.433																																						ENST00000316987.2																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30						c.(181-183)atG>atT		olfactory receptor, family 52, subfamily E, member 4							209.0	180.0	190.0					11																	5905705		2201	4296	6497	SO:0001583	missense	390081				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5905705G>T	AB065817	CCDS31401.1	11p15.4	2012-08-09			ENSG00000180974	ENSG00000180974		"""GPCR / Class A : Olfactory receptors"""	15213	protein-coding gene	gene with protein product							Standard	NM_001005165		Approved		uc010qzs.2	Q8NGH9	OTTHUMG00000168804	ENST00000316987.2:c.183G>T	11.37:g.5905705G>T	ENSP00000321426:p.Met61Ile						p.M61I	NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	205	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	61					Q6IFG0	Missense_Mutation	SNP	ENST00000316987.2	37	c.183G>T	CCDS31401.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458535	0.84317	.	.	ENSG00000180974	ENST00000316987	T	0.09350	2.99	5.04	5.04	0.67666	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000010	T	0.43233	0.1238	H	0.97587	4.035	0.47441	D	0.999426	D	0.53885	0.963	P	0.54544	0.755	T	0.64635	-0.6361	10	0.87932	D	0	.	17.0995	0.86645	0.0:0.0:1.0:0.0	.	61	Q8NGH9	O52E4_HUMAN	I	61	ENSP00000321426:M61I	ENSP00000321426:M61I	M	+	3	0	OR52E4	5862281	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.811000	0.69187	2.607000	0.88179	0.643000	0.83706	ATG		0.433	OR52E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401146.1	NM_001005165		71	251	1	0	4.98926e-31	0.870114	6.65235e-31	71	251				
KLHL28	54813	broad.mit.edu	37	14	45403630	45403630	+	Missense_Mutation	SNP	C	C	A	rs546980465		TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr14:45403630C>A	ENST00000396128.4	-	3	1150	c.1031G>T	c.(1030-1032)cGt>cTt	p.R344L	KLHL28_ENST00000355081.2_Missense_Mutation_p.R358L	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	344								p.R344H(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GACGCCAGGACGCACATTAGT	0.393																																						ENST00000396128.4																			1	Substitution - Missense(1)	p.R344H(1)	endometrium(1)	breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1030-1032)cGt>cTt		kelch-like family member 28							107.0	100.0	103.0					14																	45403630		2203	4300	6503	SO:0001583	missense	54813							g.chr14:45403630C>A	AK000088	CCDS9680.1	14q21.1	2013-02-22	2013-02-22	2007-01-09	ENSG00000179454	ENSG00000179454		"""Kelch-like"", ""BTB/POZ domain containing"""	19741	protein-coding gene	gene with protein product			"""BTB (POZ) domain containing 5"", ""kelch-like 28 (Drosophila)"""	BTBD5			Standard	NM_017658		Approved	FLJ20081	uc001wvr.3	Q9NXS3	OTTHUMG00000140263	ENST00000396128.4:c.1031G>T	14.37:g.45403630C>A	ENSP00000379434:p.Arg344Leu					KLHL28_ENST00000355081.2_Missense_Mutation_p.R358L	p.R344L	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN			3	1150	-			344					Q0VAL5	Missense_Mutation	SNP	ENST00000396128.4	37	c.1031G>T	CCDS9680.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721172	0.68959	.	.	ENSG00000179454	ENST00000396128;ENST00000355081	T;T	0.69685	-0.42;-0.4	5.38	5.38	0.77491	Kelch-type beta propeller (1);	0.175106	0.47093	D	0.000251	T	0.63558	0.2521	L	0.37561	1.115	0.58432	D	0.999997	B	0.26195	0.144	B	0.32211	0.142	T	0.63180	-0.6695	10	0.72032	D	0.01	.	19.0839	0.93194	0.0:1.0:0.0:0.0	.	344	Q9NXS3	KLH28_HUMAN	L	344;358	ENSP00000379434:R344L;ENSP00000347193:R358L	ENSP00000347193:R358L	R	-	2	0	KLHL28	44473380	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.448000	0.66612	2.671000	0.90904	0.557000	0.71058	CGT		0.393	KLHL28-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276790.3			74	98	1	0	2.10328e-26	0.870114	2.78176e-26	74	98				
IGSF9B	22997	broad.mit.edu	37	11	133815961	133815961	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr11:133815961T>A	ENST00000321016.8	-	2	487	c.257A>T	c.(256-258)tAt>tTt	p.Y86F	IGSF9B_ENST00000533871.2_Missense_Mutation_p.Y86F			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	86	Ig-like 1.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTTACCTGCATACTCAGGGTC	0.612																																						ENST00000321016.8																			0				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(256-258)tAt>tTt		immunoglobulin superfamily, member 9B							44.0	56.0	52.0					11																	133815961		2147	4248	6395	SO:0001583	missense	22997					integral to membrane|plasma membrane		g.chr11:133815961T>A	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.257A>T	11.37:g.133815961T>A	ENSP00000317980:p.Tyr86Phe					IGSF9B_ENST00000533871.2_Missense_Mutation_p.Y86F	p.Y86F			Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	2	487	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	86			Ig-like 1.		G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.257A>T		.	.	.	.	.	.	.	.	.	.	T	35	5.466258	0.96257	.	.	ENSG00000080854	ENST00000321016;ENST00000527648;ENST00000533160;ENST00000526663	T;T;T;T	0.61510	0.1;0.1;0.1;0.1	5.68	5.68	0.88126	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000013	T	0.63674	0.2531	L	0.35723	1.085	0.54753	D	0.999988	P	0.47191	0.891	P	0.56216	0.794	T	0.64322	-0.6435	10	0.49607	T	0.09	.	15.926	0.79618	0.0:0.0:0.0:1.0	.	86	Q9UPX0	TUTLB_HUMAN	F	86;86;76;133	ENSP00000317980:Y86F;ENSP00000436576:Y86F;ENSP00000434026:Y76F;ENSP00000435989:Y133F	ENSP00000317980:Y86F	Y	-	2	0	IGSF9B	133321171	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.894000	0.87336	2.175000	0.68902	0.533000	0.62120	TAT		0.612	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		4	9	0	0	0	0.184627	0	4	9				
ZNF83	55769	broad.mit.edu	37	19	53116711	53116711	+	Silent	SNP	A	A	G			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr19:53116711A>G	ENST00000597597.1	-	2	3360	c.1107T>C	c.(1105-1107)ggT>ggC	p.G369G	ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000391789.4_Silent_p.G341G|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000536937.1_Silent_p.G369G|ZNF83_ENST00000301096.3_Silent_p.G369G|ZNF83_ENST00000541777.2_Silent_p.G369G|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000544146.1_Silent_p.G369G|ZNF83_ENST00000545872.1_Silent_p.G369G			P51522	ZNF83_HUMAN	zinc finger protein 83	369					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		AAGGTTTCTCACCGGCATGAA	0.393																																						ENST00000597597.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(1105-1107)ggT>ggC		zinc finger protein 83							117.0	115.0	116.0					19																	53116711		2203	4300	6503	SO:0001819	synonymous_variant	55769					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:53116711A>G	M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"""Zinc fingers, C2H2-type"""	13158	protein-coding gene	gene with protein product		194558	"""zinc finger protein 83 (HPF1)"", ""zinc finger protein 816B"""	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.1107T>C	19.37:g.53116711A>G						ZNF83_ENST00000391789.4_Silent_p.G341G|ZNF83_ENST00000301096.3_Silent_p.G369G|ZNF83_ENST00000544146.1_Silent_p.G369G|ZNF83_ENST00000541777.2_Silent_p.G369G|ZNF83_ENST00000536937.1_Silent_p.G369G|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000545872.1_Silent_p.G369G|ZNF83_ENST00000601257.1_Intron	p.G369G			P51522	ZNF83_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)	2	3360	-			369					A8MT75|Q3ZCX0|Q6PI08	Silent	SNP	ENST00000597597.1	37	c.1107T>C	CCDS12854.1																																																																																				0.393	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1	NM_018300		57	199	0	0	0	0.870114	0	57	199				
DPEP3	64180	broad.mit.edu	37	16	68012506	68012506	+	Silent	SNP	G	G	A			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr16:68012506G>A	ENST00000268793.4	-	3	886	c.513C>T	c.(511-513)tgC>tgT	p.C171C	DPEP3_ENST00000574342.1_5'UTR	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	146					male meiosis (GO:0007140)	anchored component of membrane (GO:0031225)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		CCTGGGACTGGCATGAGACGG	0.612																																						ENST00000268793.4																			0				breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20						c.(511-513)tgC>tgT		dipeptidase 3							125.0	111.0	116.0					16																	68012506		2198	4300	6498	SO:0001819	synonymous_variant	64180				meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	g.chr16:68012506G>A	AJ291679	CCDS10856.1	16q22.1	2011-07-22			ENSG00000141096	ENSG00000141096	3.4.13.19		23029	protein-coding gene	gene with protein product		609926					Standard	NM_022357		Approved		uc002evc.4	Q9H4B8	OTTHUMG00000137544	ENST00000268793.4:c.513C>T	16.37:g.68012506G>A						DPEP3_ENST00000574342.1_5'UTR	p.C171C	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)	3	886	-		Ovarian(137;0.192)	146					B3KQ48|Q6PEZ5|Q6UXE4	Silent	SNP	ENST00000268793.4	37	c.513C>T	CCDS10856.1																																																																																				0.612	DPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268875.3	NM_022357		4	171	0	0	0	0.150653	0	4	171				
IMMP2L	83943	broad.mit.edu	37	7	110303688	110303688	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr7:110303688C>A	ENST00000405709.2	-	6	940	c.498G>T	c.(496-498)gaG>gaT	p.E166D	IMMP2L_ENST00000415362.1_Missense_Mutation_p.E166D|IMMP2L_ENST00000450877.1_Missense_Mutation_p.E148D|IMMP2L_ENST00000331762.3_Missense_Mutation_p.E166D|IMMP2L_ENST00000489381.1_5'UTR|IMMP2L_ENST00000452895.1_Missense_Mutation_p.E166D	NM_032549.3	NP_115938.1	Q96T52	IMP2L_HUMAN	IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)	166					ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|protein processing involved in protein targeting to mitochondrion (GO:0006627)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|mitochondrial inner membrane peptidase complex (GO:0042720)	peptidase activity (GO:0008233)|serine-type peptidase activity (GO:0008236)	p.E166E(1)		endometrium(3)|large_intestine(6)|lung(5)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		CTGGTAAGCGCTCTGGAGGAA	0.493																																						ENST00000405709.2																			1	Substitution - coding silent(1)	p.E166E(1)	endometrium(1)	endometrium(3)|large_intestine(6)|lung(5)	14						c.(496-498)gaG>gaT		IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)							80.0	79.0	80.0					7																	110303688		2203	4300	6503	SO:0001583	missense	83943				protein processing involved in protein targeting to mitochondrion|proteolysis	integral to membrane|mitochondrial inner membrane peptidase complex|nucleus	serine-type peptidase activity	g.chr7:110303688C>A	AF359563	CCDS5753.1	7q31	2014-01-06	2005-08-17		ENSG00000184903	ENSG00000184903			14598	protein-coding gene	gene with protein product		605977	"""IMP2 inner mitochondrial membrane protease-like (S. cerevisiae)"", ""IMMP2L intronic transcript 1 (non-protein coding)"""	IMMP2L-IT1		11254443	Standard	NM_032549		Approved	IMP2	uc010ljr.2	Q96T52	OTTHUMG00000155023	ENST00000405709.2:c.498G>T	7.37:g.110303688C>A	ENSP00000384966:p.Glu166Asp					IMMP2L_ENST00000452895.1_Missense_Mutation_p.E166D|IMMP2L_ENST00000450877.1_Missense_Mutation_p.E148D|IMMP2L_ENST00000331762.3_Missense_Mutation_p.E166D|IMMP2L_ENST00000415362.1_Missense_Mutation_p.E166D|IMMP2L_ENST00000489381.1_5'UTR	p.E166D	NM_032549.3	NP_115938.1	Q96T52	IMP2L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)	6	940	-			166					Q75MF1|Q75MN9|Q75MP0|Q75MS5|Q75MS8|Q96HJ2	Missense_Mutation	SNP	ENST00000405709.2	37	c.498G>T	CCDS5753.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.383324	0.25031	.	.	ENSG00000184903	ENST00000405709;ENST00000331762;ENST00000452895;ENST00000450877;ENST00000415362	.	.	.	5.5	4.56	0.56223	.	0.182769	0.47852	D	0.000202	T	0.23094	0.0558	N	0.03891	-0.335	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.19614	-1.0300	9	0.15952	T	0.53	-26.748	5.4737	0.16684	0.0:0.664:0.1763:0.1598	.	166	Q96T52	IMP2L_HUMAN	D	166;166;166;148;166	.	ENSP00000329553:E166D	E	-	3	2	IMMP2L	110090924	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	0.674000	0.25218	2.756000	0.94617	0.563000	0.77884	GAG		0.493	IMMP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338109.4	NM_032549		33	110	1	0	2.08457e-15	0.750413	2.57044e-15	33	110				
CHL1	10752	broad.mit.edu	37	3	384665	384665	+	Splice_Site	SNP	A	A	T			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr3:384665A>T	ENST00000256509.2	+	8	1321		c.e8-1		CHL1_ENST00000397491.2_Intron	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TTTTTATTTCAGTAAAGCATG	0.328																																						ENST00000256509.2																			0				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93						c.e8-1		cell adhesion molecule L1-like							175.0	162.0	167.0					3																	384665		2203	4300	6503	SO:0001630	splice_region_variant	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:384665A>T	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.680-1A>T	3.37:g.384665A>T						CHL1_ENST00000397491.2_Intron		NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	8	1321	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)						Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Splice_Site	SNP	ENST00000256509.2	37		CCDS2556.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.271811	0.80469	.	.	ENSG00000134121	ENST00000256509	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1323	0.65263	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CHL1	359665	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.886000	0.69743	2.130000	0.65690	0.533000	0.62120	.		0.328	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614	Intron	20	77	0	0	0	0.557998	0	20	77				
NPHP3	27031	broad.mit.edu	37	3	132413714	132413714	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr3:132413714C>A	ENST00000337331.5	-	16	2353	c.2267G>T	c.(2266-2268)cGg>cTg	p.R756L	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	756					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CATGGACTCCCGGATAGAGTG	0.373																																						ENST00000337331.5																			0				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2266-2268)cGg>cTg		nephronophthisis 3 (adolescent)							137.0	133.0	134.0					3																	132413714		2203	4300	6503	SO:0001583	missense	27031				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	g.chr3:132413714C>A	AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"""Tetratricopeptide (TTC) repeat domain containing"""	7907	protein-coding gene	gene with protein product	"""nephrocystin-3"", ""Meckel syndrome, type 7"", ""cilia and flagella associated protein 31"""	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.2267G>T	3.37:g.132413714C>A	ENSP00000338766:p.Arg756Leu					NPHP3_ENST00000326682.8_3'UTR	p.R756L	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN			16	2353	-			756					Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Missense_Mutation	SNP	ENST00000337331.5	37	c.2267G>T	CCDS3078.1	.	.	.	.	.	.	.	.	.	.	T	7.918	0.738053	0.15574	.	.	ENSG00000113971	ENST00000393144;ENST00000337331	D	0.90385	-2.66	5.56	3.16	0.36331	.	0.420710	0.27181	N	0.020559	T	0.77598	0.4154	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.62492	-0.6843	10	0.24483	T	0.36	-3.1904	7.6507	0.28346	0.0:0.2548:0.0:0.7452	.	756	Q7Z494	NPHP3_HUMAN	L	36;756	ENSP00000338766:R756L	ENSP00000338766:R756L	R	-	2	0	NPHP3	133896404	1.000000	0.71417	0.977000	0.42913	0.298000	0.27526	1.586000	0.36611	0.075000	0.16796	-0.360000	0.07572	CGG		0.373	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	NM_153240		31	157	1	0	8.88839e-20	0.750413	1.13883e-19	31	157				
BPHL	670	broad.mit.edu	37	6	3129325	3129325	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr6:3129325G>A	ENST00000380379.5	+	4	474	c.425G>A	c.(424-426)gGc>gAc	p.G142D	BPHL_ENST00000380368.2_Missense_Mutation_p.G125D|BPHL_ENST00000434640.1_Missense_Mutation_p.G125D|BPHL_ENST00000380375.3_Missense_Mutation_p.G125D	NM_004332.2	NP_004323.2	Q86WA6	BPHL_HUMAN	biphenyl hydrolase-like (serine hydrolase)	142					cellular amino acid metabolic process (GO:0006520)|response to toxic substance (GO:0009636)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)	p.G125D(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(6)	13	Ovarian(93;0.0386)	all_hematologic(90;0.108)				AGTGATGGGGGCATAACCGCA	0.488																																						ENST00000380368.2																			1	Substitution - Missense(1)	p.G125D(1)	lung(1)	endometrium(4)|kidney(1)|large_intestine(2)|lung(6)	13						c.(373-375)gGc>gAc		biphenyl hydrolase-like (serine hydrolase)							188.0	163.0	172.0					6																	3129325		2203	4300	6503	SO:0001583	missense	670				cellular amino acid metabolic process|response to toxin	mitochondrion	hydrolase activity	g.chr6:3129325G>A	X81372	CCDS4483.2	6p25	2008-08-29	2008-08-29		ENSG00000137274	ENSG00000137274			1094	protein-coding gene	gene with protein product	"""breast epithelial mucin-associated antigen"""	603156		MCNAA		7759552, 9721218, 15832508	Standard	NM_004332		Approved	Bph-rp	uc003mva.3	Q86WA6	OTTHUMG00000014140	ENST00000380379.5:c.425G>A	6.37:g.3129325G>A	ENSP00000369739:p.Gly142Asp					BPHL_ENST00000380379.5_Missense_Mutation_p.G142D|BPHL_ENST00000434640.1_Missense_Mutation_p.G125D|BPHL_ENST00000380375.3_Missense_Mutation_p.G125D	p.G125D			Q86WA6	BPHL_HUMAN			5	1018	+	Ovarian(93;0.0386)	all_hematologic(90;0.108)	142					Q00306|Q13855|Q3KP51	Missense_Mutation	SNP	ENST00000380379.5	37	c.374G>A	CCDS4483.2	.	.	.	.	.	.	.	.	.	.	G	27.8	4.864260	0.91511	.	.	ENSG00000137274	ENST00000434640;ENST00000380375;ENST00000380368;ENST00000380379	D;D;T;D	0.89939	-2.59;-2.59;-1.09;-2.59	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	D	0.95872	0.8656	M	0.93763	3.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.96788	0.9580	10	0.87932	D	0	-15.6536	18.7967	0.91997	0.0:0.0:1.0:0.0	.	142;125	Q86WA6;Q86WA6-2	BPHL_HUMAN;.	D	125;125;125;142	ENSP00000390472:G125D;ENSP00000369734:G125D;ENSP00000369726:G125D;ENSP00000369739:G142D	ENSP00000369726:G125D	G	+	2	0	BPHL	3074324	1.000000	0.71417	0.399000	0.26333	0.946000	0.59487	7.350000	0.79385	2.444000	0.82710	0.561000	0.74099	GGC		0.488	BPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039670.5			4	164	0	0	0	0.150653	0	4	164				
EDC4	23644	broad.mit.edu	37	16	67911296	67911296	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr16:67911296A>T	ENST00000358933.5	+	5	867	c.628A>T	c.(628-630)Aat>Tat	p.N210Y	EDC4_ENST00000574770.1_3'UTR|AC040162.1_ENST00000408599.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	210					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GGCTCTGGTTAATGGCAAAAT	0.567																																						ENST00000358933.5																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41						c.(628-630)Aat>Tat		enhancer of mRNA decapping 4							124.0	128.0	126.0					16																	67911296		2198	4300	6498	SO:0001583	missense	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67911296A>T	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.628A>T	16.37:g.67911296A>T	ENSP00000351811:p.Asn210Tyr					EDC4_ENST00000574770.1_3'UTR	p.N210Y	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	5	867	+		Ovarian(137;0.0563)	210					A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Missense_Mutation	SNP	ENST00000358933.5	37	c.628A>T	CCDS10849.1	.	.	.	.	.	.	.	.	.	.	A	12.46	1.945453	0.34377	.	.	ENSG00000038358	ENST00000358933;ENST00000536072	.	.	.	5.45	5.45	0.79879	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.320892	0.34460	N	0.003960	T	0.25975	0.0633	N	0.19112	0.55	0.32281	N	0.567547	P;B	0.41748	0.761;0.162	B;B	0.34722	0.188;0.028	T	0.42498	-0.9448	9	0.59425	D	0.04	-12.2996	10.683	0.45826	0.9232:0.0:0.0767:0.0	.	142;210	B7Z7V8;Q6P2E9	.;EDC4_HUMAN	Y	210;142	.	ENSP00000351811:N210Y	N	+	1	0	EDC4	66468797	0.997000	0.39634	1.000000	0.80357	0.987000	0.75469	3.454000	0.52986	2.079000	0.62486	0.379000	0.24179	AAT		0.567	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		25	65	0	0	0	0.681144	0	25	65				
PREX2	80243	broad.mit.edu	37	8	69028102	69028102	+	Silent	SNP	T	T	C			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr8:69028102T>C	ENST00000288368.4	+	26	3538	c.3261T>C	c.(3259-3261)ttT>ttC	p.F1087F		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1087					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GGGTATGTTTTAATGTAGCAG	0.383																																						ENST00000288368.4																			0				NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						c.(3259-3261)ttT>ttC		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2							175.0	167.0	170.0					8																	69028102		2203	4300	6503	SO:0001819	synonymous_variant	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:69028102T>C	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.3261T>C	8.37:g.69028102T>C							p.F1087F	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN			26	3538	+			1087					B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Silent	SNP	ENST00000288368.4	37	c.3261T>C	CCDS6201.1																																																																																				0.383	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		33	163	0	0	0	0.760397	0	33	163				
MTR	4548	broad.mit.edu	37	1	237044136	237044136	+	Splice_Site	SNP	G	G	A			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr1:237044136G>A	ENST00000366577.5	+	25	3070	c.2676G>A	c.(2674-2676)gtG>gtA	p.V892V	MTR_ENST00000535889.1_Splice_Site_p.V841V	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	892	B12-binding. {ECO:0000255|PROSITE- ProRule:PRU00666}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	GTGTGGTGGTGGTAAGTGGGT	0.408																																						ENST00000366577.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67						c.e25+1		5-methyltetrahydrofolate-homocysteine methyltransferase	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)						164.0	163.0	163.0					1																	237044136		2203	4300	6503	SO:0001630	splice_region_variant	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:237044136G>A	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.2676+1G>A	1.37:g.237044136G>A						MTR_ENST00000535889.1_Splice_Site_p.V841_splice	p.V892_splice	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	25	3070	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	892			B12-binding.		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Splice_Site	SNP	ENST00000366577.5	37	c.2676_splice	CCDS1614.1																																																																																				0.408	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254	Silent	3	65	0	0	0	0.115264	0	3	65				
C9orf135	138255	broad.mit.edu	37	9	72472845	72472845	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr9:72472845C>T	ENST00000377197.3	+	4	488	c.401C>T	c.(400-402)aCa>aTa	p.T134I	C9orf135_ENST00000466872.2_3'UTR|C9orf135_ENST00000527647.1_Missense_Mutation_p.T134I	NM_001010940.1	NP_001010940.1	Q5VTT2	CI135_HUMAN	chromosome 9 open reading frame 135	134						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						TTGCCTGCCACAGGTTTTGGA	0.368																																						ENST00000377197.3																			0				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						c.(400-402)aCa>aTa		chromosome 9 open reading frame 135							110.0	101.0	104.0					9																	72472845		2203	4300	6503	SO:0001583	missense	138255					integral to membrane		g.chr9:72472845C>T		CCDS35041.1	9q21.11	2013-06-07	2013-06-07	2013-06-07	ENSG00000204711	ENSG00000204711			31422	protein-coding gene	gene with protein product							Standard	XM_005251705		Approved		uc004ahl.3	Q5VTT2	OTTHUMG00000019985	ENST00000377197.3:c.401C>T	9.37:g.72472845C>T	ENSP00000366402:p.Thr134Ile					C9orf135_ENST00000466872.2_3'UTR|C9orf135_ENST00000527647.1_Missense_Mutation_p.T134I	p.T134I	NM_001010940.1	NP_001010940.1	Q5VTT2	CI135_HUMAN			4	488	+			134					A7E2U4|B2RN61	Missense_Mutation	SNP	ENST00000377197.3	37	c.401C>T	CCDS35041.1	.	.	.	.	.	.	.	.	.	.	C	4.112	0.019010	0.08006	.	.	ENSG00000204711	ENST00000377197;ENST00000527647	.	.	.	5.35	1.2	0.21068	.	0.410167	0.23263	N	0.050111	T	0.39436	0.1078	L	0.59436	1.845	0.09310	N	1	B;B	0.13145	0.007;0.007	B;B	0.16722	0.016;0.01	T	0.36529	-0.9744	9	0.56958	D	0.05	-3.3736	6.3795	0.21525	0.0:0.5528:0.2812:0.166	.	134;134	A7E2U4;Q5VTT2	.;CI135_HUMAN	I	134	.	ENSP00000366402:T134I	T	+	2	0	C9orf135	71662665	0.074000	0.21230	0.059000	0.19551	0.069000	0.16628	0.091000	0.15046	0.339000	0.23719	-0.931000	0.02705	ACA		0.368	C9orf135-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052591.1	NM_001010940		71	129	0	0	0	0.870114	0	71	129				
BCL9L	283149	broad.mit.edu	37	11	118779003	118779003	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr11:118779003G>A	ENST00000334801.3	-	2	1352	c.388C>T	c.(388-390)Cca>Tca	p.P130S	MIR4492_ENST00000581627.1_RNA|BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	130					canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TCCAGGGATGGGGTCCCAGCC	0.592																																						ENST00000334801.3																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56						c.(388-390)Cca>Tca		B-cell CLL/lymphoma 9-like							69.0	64.0	65.0					11																	118779003		2200	4295	6495	SO:0001583	missense	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118779003G>A	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.388C>T	11.37:g.118779003G>A	ENSP00000335320:p.Pro130Ser					BCL9L_ENST00000526143.1_5'UTR	p.P130S	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	2	1352	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	130					A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	ENST00000334801.3	37	c.388C>T	CCDS8403.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.653555	0.67472	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000392849;ENST00000431085;ENST00000532899	T;T	0.63255	-0.03;-0.03	5.43	5.43	0.79202	.	0.000000	0.50627	D	0.000110	T	0.50326	0.1609	L	0.34521	1.04	0.38849	D	0.956234	B;B	0.25667	0.131;0.08	B;B	0.24701	0.055;0.025	T	0.52873	-0.8517	10	0.49607	T	0.09	-6.7717	10.7123	0.45990	0.0:0.1419:0.7111:0.147	.	125;130	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	S	130;93;130;130;130	ENSP00000335320:P130S;ENSP00000432804:P130S	ENSP00000335320:P130S	P	-	1	0	BCL9L	118284213	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.625000	0.54238	2.549000	0.85964	0.561000	0.74099	CCA		0.592	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		21	98	0	0	0	0.575678	0	21	98				
ISL1	3670	broad.mit.edu	37	5	50687247	50687247	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr5:50687247A>T	ENST00000230658.7	+	5	1490	c.905A>T	c.(904-906)gAc>gTc	p.D302V	ISL1_ENST00000505475.2_3'UTR|ISL1_ENST00000511384.1_Missense_Mutation_p.D279V	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	302	Gln-rich.				atrial septum morphogenesis (GO:0060413)|axon regeneration (GO:0031103)|cardiac cell fate determination (GO:0060913)|cardiac muscle cell myoblast differentiation (GO:0060379)|cardiac right ventricle morphogenesis (GO:0003215)|cellular response to glucocorticoid stimulus (GO:0071385)|endocardial cushion morphogenesis (GO:0003203)|innervation (GO:0060384)|mesenchymal cell differentiation (GO:0048762)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of protein homodimerization activity (GO:0090074)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate specification (GO:0048665)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|pancreas development (GO:0031016)|peripheral nervous system neuron axonogenesis (GO:0048936)|pharyngeal system development (GO:0060037)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage colony-stimulating factor production (GO:1901258)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|retinal ganglion cell axon guidance (GO:0031290)|secondary heart field specification (GO:0003139)|sensory system development (GO:0048880)|spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron differentiation (GO:0021522)|trigeminal nerve development (GO:0021559)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				TTGCAGAGTGACATAGATCAG	0.498																																						ENST00000230658.7																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(904-906)gAc>gTc		ISL LIM homeobox 1							78.0	75.0	76.0					5																	50687247		1949	4155	6104	SO:0001583	missense	3670				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:50687247A>T	BC031213	CCDS43314.1	5q11.2	2012-03-09	2007-07-13		ENSG00000016082	ENSG00000016082		"""Homeoboxes / LIM class"""	6132	protein-coding gene	gene with protein product		600366	"""ISL1 transcription factor, LIM/homeodomain, (islet-1)"""			7912209	Standard	NM_002202		Approved	Isl-1, ISLET1	uc003jor.3	P61371	OTTHUMG00000162281	ENST00000230658.7:c.905A>T	5.37:g.50687247A>T	ENSP00000230658:p.Asp302Val					ISL1_ENST00000511384.1_Missense_Mutation_p.D279V|ISL1_ENST00000505475.2_3'UTR	p.D302V	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN			5	1490	+		Lung NSC(810;0.000845)|Breast(144;0.0411)	302			Gln-rich.		P20663|P47894	Missense_Mutation	SNP	ENST00000230658.7	37	c.905A>T	CCDS43314.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.599666	0.87055	.	.	ENSG00000016082	ENST00000230658;ENST00000511384	D;D	0.86366	-2.11;-2.05	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.90160	0.6925	M	0.80746	2.51	0.80722	D	1	P	0.45396	0.857	P	0.46452	0.517	D	0.91645	0.5330	10	0.87932	D	0	.	16.1263	0.81397	1.0:0.0:0.0:0.0	.	302	P61371	ISL1_HUMAN	V	302;279	ENSP00000230658:D302V;ENSP00000422676:D279V	ENSP00000230658:D302V	D	+	2	0	ISL1	50723004	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.287000	0.95975	2.257000	0.74773	0.533000	0.62120	GAC		0.498	ISL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368413.3	NM_002202		25	77	0	0	0	0.706142	0	25	77				
SNHG14	104472715	broad.mit.edu	37	15	25296663	25296663	+	RNA	SNP	A	A	G			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr15:25296663A>G	ENST00000549804.2	+	0	98				SNORD116-2_ENST00000384274.1_RNA|SNHG14_ENST00000547292.1_RNA|SNORD116-1_ENST00000384335.1_RNA|RP11-701H24.10_ENST00000552781.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		TTCCTTGGAAAAGCTGAACAA	0.488																																						ENST00000549804.2																			0																				208.0	190.0	196.0					15																	25296663		876	1991	2867			104472715							g.chr15:25296663A>G			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25296663A>G						SNHG14_ENST00000547292.1_RNA|SNORD116-1_ENST00000384335.1_RNA|SNHG14_ENST00000552781.1_RNA								0	98	+									RNA	SNP	ENST00000549804.2	37																																																																																						0.488	SNHG14-012	KNOWN	non_canonical_other|basic	antisense	processed_transcript	OTTHUMT00000408278.2			44	168	0	0	0	0.864702	0	44	168				
NPHP4	261734	broad.mit.edu	37	1	6038470	6038470	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr1:6038470C>T	ENST00000378156.4	-	3	404	c.139G>A	c.(139-141)Gtg>Atg	p.V47M	NPHP4_ENST00000478423.2_Intron	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	47					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		ACCTCCAGCACGCCCTAGGAG	0.557																																						ENST00000378156.4																			0				NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47						c.(139-141)Gtg>Atg		nephronophthisis 4							58.0	62.0	60.0					1																	6038470		2070	4186	6256	SO:0001583	missense	261734				actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	g.chr1:6038470C>T	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.139G>A	1.37:g.6038470C>T	ENSP00000367398:p.Val47Met					NPHP4_ENST00000478423.2_Intron	p.V47M	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	3	404	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	47					Q8IWC0	Missense_Mutation	SNP	ENST00000378156.4	37	c.139G>A	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	c	2.639	-0.284610	0.05605	.	.	ENSG00000131697	ENST00000378156	D	0.87571	-2.27	4.98	-9.96	0.00443	.	2.752720	0.01171	N	0.006860	T	0.79381	0.4436	L	0.54323	1.7	0.09310	N	1	B	0.13594	0.008	B	0.12156	0.007	T	0.62234	-0.6897	10	0.49607	T	0.09	.	1.7175	0.02905	0.2557:0.264:0.0842:0.396	.	47	O75161	NPHP4_HUMAN	M	47	ENSP00000367398:V47M	ENSP00000367398:V47M	V	-	1	0	NPHP4	5961057	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.625000	0.00875	-2.851000	0.00331	-3.230000	0.00052	GTG		0.557	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			3	16	0	0	0	0.115264	0	3	16				
STEAP3	55240	broad.mit.edu	37	2	120003448	120003448	+	Missense_Mutation	SNP	C	C	T	rs190041367		TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr2:120003448C>T	ENST00000354888.5	+	3	880	c.376C>T	c.(376-378)Cgt>Tgt	p.R126C	STEAP3_ENST00000409811.1_Missense_Mutation_p.R126C|STEAP3_ENST00000393108.2_Missense_Mutation_p.R126C|STEAP3_ENST00000393110.2_Missense_Mutation_p.R136C|STEAP3_ENST00000393106.2_Missense_Mutation_p.R126C|STEAP3_ENST00000393107.2_Missense_Mutation_p.R126C|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000425223.2_Missense_Mutation_p.R126C|STEAP3_ENST00000450943.2_Missense_Mutation_p.R126C	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	126					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cellular iron ion homeostasis (GO:0006879)|copper ion import (GO:0015677)|exosomal secretion (GO:1990182)|ferric iron import into cell (GO:0097461)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|protein secretion (GO:0009306)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						CCTTCAGCATCGTGAGTCCAA	0.582													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18874	0.0		0.0	False		,,,				2504	0.0					ENST00000354888.5																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						c.(376-378)Cgt>Tgt		STEAP family member 3, metalloreductase							123.0	93.0	103.0					2																	120003448		2203	4300	6503	SO:0001583	missense	55240				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr2:120003448C>T	AY029585	CCDS2125.1, CCDS42738.1	2q14.2	2011-09-30	2011-09-30		ENSG00000115107	ENSG00000115107			24592	protein-coding gene	gene with protein product		609671				12606722	Standard	NM_182915		Approved	TSAP6, dudlin-2, STMP3	uc002tlr.3	Q658P3	OTTHUMG00000131402	ENST00000354888.5:c.376C>T	2.37:g.120003448C>T	ENSP00000346961:p.Arg126Cys					STEAP3_ENST00000450943.2_Missense_Mutation_p.R126C|STEAP3_ENST00000393108.2_Missense_Mutation_p.R126C|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000393110.2_Missense_Mutation_p.R136C|STEAP3_ENST00000425223.2_Missense_Mutation_p.R126C|STEAP3_ENST00000409811.1_Missense_Mutation_p.R126C|STEAP3_ENST00000393106.2_Missense_Mutation_p.R126C|STEAP3_ENST00000393107.2_Missense_Mutation_p.R126C	p.R126C	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN			3	880	+			126					A8K6E3|Q4VBR2|Q4ZG36|Q53SQ8|Q7Z389|Q86SF6|Q8NEW6|Q8TDP3|Q8TF03|Q9NVB5	Missense_Mutation	SNP	ENST00000354888.5	37	c.376C>T	CCDS2125.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	14.39	2.519784	0.44866	.	.	ENSG00000115107	ENST00000393108;ENST00000354888;ENST00000450943;ENST00000393110;ENST00000393106;ENST00000409811;ENST00000393107;ENST00000425223	T;T;T;T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26;2.26;2.26;2.26	5.2	5.2	0.72013	NAD(P)-binding domain (1);	0.572717	0.17752	N	0.163206	T	0.23611	0.0571	M	0.67700	2.07	0.09310	N	1	D;D;P	0.53885	0.963;0.962;0.727	P;P;B	0.46885	0.471;0.53;0.268	T	0.22487	-1.0215	9	.	.	.	-11.2127	8.8605	0.35253	0.1768:0.6737:0.1496:0.0	.	126;136;126	B8ZZX6;Q658P3-2;Q658P3	.;.;STEA3_HUMAN	C	126;126;126;136;126;126;126;126	ENSP00000376820:R126C;ENSP00000346961:R126C;ENSP00000396873:R126C;ENSP00000376822:R136C;ENSP00000376818:R126C;ENSP00000386510:R126C;ENSP00000376819:R126C;ENSP00000396214:R126C	.	R	+	1	0	STEAP3	119719918	0.011000	0.17503	0.007000	0.13788	0.591000	0.36615	2.157000	0.42320	2.693000	0.91896	0.655000	0.94253	CGT		0.582	STEAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254193.1	NM_018234		7	136	0	0	0	0.248553	0	7	136				
SERPINI1	5274	broad.mit.edu	37	3	167525118	167525118	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr3:167525118C>A	ENST00000295777.5	+	6	1399	c.968C>A	c.(967-969)aCa>aAa	p.T323K	SERPINI1_ENST00000488374.1_3'UTR|SERPINI1_ENST00000446050.2_Missense_Mutation_p.T323K	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	323					cell death (GO:0008219)|central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|peripheral nervous system development (GO:0007422)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						GCAAATTTGACAGGCCTCTCT	0.303																																						ENST00000295777.5																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						c.(967-969)aCa>aAa		serpin peptidase inhibitor, clade I (neuroserpin), member 1							51.0	58.0	56.0					3																	167525118		2203	4300	6503	SO:0001583	missense	5274				central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:167525118C>A	Z81326	CCDS3203.1	3q26.1	2014-02-18	2005-08-18		ENSG00000163536	ENSG00000163536		"""Serine (or cysteine) peptidase inhibitors"""	8943	protein-coding gene	gene with protein product		602445	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1"""	PI12		24172014	Standard	NM_005025		Approved	neuroserpin	uc003ffa.4	Q99574	OTTHUMG00000158450	ENST00000295777.5:c.968C>A	3.37:g.167525118C>A	ENSP00000295777:p.Thr323Lys					SERPINI1_ENST00000488374.1_3'UTR|SERPINI1_ENST00000446050.2_Missense_Mutation_p.T323K	p.T323K	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN			6	1399	+			323					A8K217|D3DNP1|Q6AHZ4	Missense_Mutation	SNP	ENST00000295777.5	37	c.968C>A	CCDS3203.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.47|13.47	2.246254|2.246254	0.39697|0.39697	.|.	.|.	ENSG00000163536|ENSG00000163536	ENST00000466865|ENST00000446050;ENST00000295777;ENST00000466979	.|D;D	.|0.83914	.|-1.78;-1.78	5.14|5.14	4.21|4.21	0.49690|0.49690	.|Serpin domain (3);	.|0.106321	.|0.64402	.|D	.|0.000004	T|T	0.72961|0.72961	0.3526|0.3526	L|L	0.45352|0.45352	1.415|1.415	0.41425|0.41425	D|D	0.987825|0.987825	.|P	.|0.43412	.|0.806	.|B	.|0.26094	.|0.066	T|T	0.80365|0.80365	-0.1413|-0.1413	5|10	.|0.87932	.|D	.|0	.|.	15.2793|15.2793	0.73770|0.73770	0.0:0.8471:0.1529:0.0|0.0:0.8471:0.1529:0.0	.|.	.|323	.|Q99574	.|NEUS_HUMAN	E|K	31|323;323;71	.|ENSP00000397373:T323K;ENSP00000295777:T323K	.|ENSP00000295777:T323K	D|T	+|+	3|2	2|0	SERPINI1|SERPINI1	169007812|169007812	1.000000|1.000000	0.71417|0.71417	0.947000|0.947000	0.38551|0.38551	0.919000|0.919000	0.55068|0.55068	3.031000|3.031000	0.49728|0.49728	2.385000|2.385000	0.81259|0.81259	0.655000|0.655000	0.94253|0.94253	GAC|ACA		0.303	SERPINI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351056.1			26	129	1	0	1.85244e-09	0.654019	2.17e-09	26	129				
NALCN	259232	broad.mit.edu	37	13	101763549	101763549	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr13:101763549C>T	ENST00000251127.6	-	19	2302	c.2221G>A	c.(2221-2223)Gga>Aga	p.G741R		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	741					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.G741R(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCAAATGATCCGCTCAGCATG	0.493																																						ENST00000251127.6																			1	Substitution - Missense(1)	p.G741R(1)	kidney(1)	NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(2221-2223)Gga>Aga		sodium leak channel, non-selective							111.0	106.0	108.0					13																	101763549		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101763549C>T	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.2221G>A	13.37:g.101763549C>T	ENSP00000251127:p.Gly741Arg						p.G741R	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			19	2302	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		741					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.2221G>A	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.796071	0.70567	.	.	ENSG00000102452	ENST00000251127	D	0.97598	-4.45	5.31	5.31	0.75309	.	0.052288	0.85682	D	0.000000	D	0.97126	0.9061	L	0.49126	1.545	0.80722	D	1	D	0.69078	0.997	P	0.55303	0.773	D	0.97075	0.9780	10	0.48119	T	0.1	.	18.9692	0.92708	0.0:1.0:0.0:0.0	.	741	Q8IZF0	NALCN_HUMAN	R	741	ENSP00000251127:G741R	ENSP00000251127:G741R	G	-	1	0	NALCN	100561550	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.298000	0.78815	2.490000	0.84030	0.585000	0.79938	GGA		0.493	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		69	201	0	0	0	0.870114	0	69	201				
BICC1	80114	broad.mit.edu	37	10	60546842	60546842	+	Splice_Site	SNP	G	G	C			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr10:60546842G>C	ENST00000373886.3	+	5	550		c.e5+1			NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1						multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						AAGCAACCAGGTGGTTTGTCT	0.353																																						ENST00000373886.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						c.e5+1		bicaudal C homolog 1 (Drosophila)							62.0	60.0	61.0					10																	60546842		2203	4300	6503	SO:0001630	splice_region_variant	80114				multicellular organismal development		RNA binding	g.chr10:60546842G>C	AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.546+1G>C	10.37:g.60546842G>C								NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN			5	550	+									Splice_Site	SNP	ENST00000373886.3	37		CCDS31206.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.818132	0.90790	.	.	ENSG00000122870	ENST00000373886	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0361	0.97558	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BICC1	60216848	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.719000	0.98760	2.740000	0.93945	0.563000	0.77884	.		0.353	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044	Intron	5	72	0	0	0	0.184627	0	5	72				
NOTCH1	4851	broad.mit.edu	37	9	139401756	139401756	+	Splice_Site	SNP	C	C	T			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr9:139401756C>T	ENST00000277541.6	-	22	3719		c.e22+1			NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1						anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(4)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCGGCCCTTACCCTGAGTGCC	0.692			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		4	Unknown(4)	p.?(4)	lung(4)	breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.e22+1		notch 1							33.0	37.0	36.0					9																	139401756		1996	4164	6160	SO:0001630	splice_region_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139401756C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.3643+1G>A	9.37:g.139401756C>T		HNSCC(8;0.001)						NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	22	3719	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)						Q59ED8|Q5SXM3	Splice_Site	SNP	ENST00000277541.6	37		CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.960377	0.53400	.	.	ENSG00000148400	ENST00000277541	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.568	0.87926	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NOTCH1	138521577	1.000000	0.71417	1.000000	0.80357	0.134000	0.20937	7.395000	0.79876	2.382000	0.81193	0.655000	0.94253	.		0.692	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617	Intron	24	49	0	0	0	0.667858	0	24	49				
CDH9	1007	broad.mit.edu	37	5	26988326	26988326	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr5:26988326C>G	ENST00000231021.4	-	2	287	c.115G>C	c.(115-117)Ggt>Cgt	p.G39R		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	39					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TTTGTCAGACCCGCTATCTTT	0.393																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(115-117)Ggt>Cgt		cadherin 9, type 2 (T1-cadherin)							139.0	135.0	136.0					5																	26988326		2203	4300	6503	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26988326C>G	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.115G>C	5.37:g.26988326C>G	ENSP00000231021:p.Gly39Arg						p.G39R	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			2	287	-			39					Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.115G>C	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	C	5.754	0.323495	0.10900	.	.	ENSG00000113100	ENST00000231021;ENST00000513289;ENST00000511822	T;T;T	0.56776	0.55;0.44;1.95	5.64	2.61	0.31194	.	1.392970	0.04112	N	0.314758	T	0.36138	0.0956	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.18366	-1.0339	9	.	.	.	.	4.123	0.10114	0.1535:0.4504:0.0:0.3961	.	39;39	E7EPN0;Q9ULB4	.;CADH9_HUMAN	R	39	ENSP00000231021:G39R;ENSP00000426239:G39R;ENSP00000422538:G39R	.	G	-	1	0	CDH9	27024083	0.001000	0.12720	0.262000	0.24481	0.848000	0.48234	0.062000	0.14389	0.590000	0.29694	0.591000	0.81541	GGT		0.393	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		32	73	0	0	0	0.740014	0	32	73				
CADM1	23705	broad.mit.edu	37	11	115080343	115080343	+	Silent	SNP	G	G	T			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr11:115080343G>T	ENST00000452722.3	-	8	1049	c.1029C>A	c.(1027-1029)acC>acA	p.T343T	CADM1_ENST00000542447.2_Intron|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000537058.1_Silent_p.T343T|CADM1_ENST00000331581.6_Silent_p.T343T	NM_014333.3	NP_055148.3			cell adhesion molecule 1									p.T343T(5)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		tggtggtggtggttgttgtgg	0.433																																						ENST00000537058.1																			5	Substitution - coding silent(5)	p.T343T(5)	kidney(3)|lung(2)	cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(1027-1029)acC>acA		cell adhesion molecule 1							45.0	50.0	49.0					11																	115080343		2201	4296	6497	SO:0001819	synonymous_variant	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115080343G>T	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.1029C>A	11.37:g.115080343G>T						CADM1_ENST00000537140.1_Intron|CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000452722.2_Silent_p.T343T	p.T343T			Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	8	1049	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	343	PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).					Silent	SNP	ENST00000452722.3	37	c.1029C>A	CCDS8373.1																																																																																				0.433	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		6	81	1	0	0.0215528	0.217242	0.0228042	6	81				
LRIG3	121227	broad.mit.edu	37	12	59274631	59274631	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr12:59274631T>C	ENST00000320743.3	-	13	1819	c.1533A>G	c.(1531-1533)atA>atG	p.I511M	LRIG3_ENST00000379141.4_Missense_Mutation_p.I451M	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	511	Ig-like C2-type 1.				otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TGGAACCTTTTATTGCCGACT	0.433			T	ROS1	NSCLC																																	ENST00000320743.3				Dom	yes		12	12q14.1	121227	T	leucine-rich repeats and immunoglobulin-like domains 3			E	ROS1		NSCLC	LRIG3/ROS1(2)	0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1531-1533)atA>atG		leucine-rich repeats and immunoglobulin-like domains 3							187.0	192.0	190.0					12																	59274631		2203	4300	6503	SO:0001583	missense	121227					integral to membrane		g.chr12:59274631T>C	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.1533A>G	12.37:g.59274631T>C	ENSP00000326759:p.Ile511Met					LRIG3_ENST00000379141.4_Missense_Mutation_p.I451M	p.I511M	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		13	1819	-			511			Ig-like C2-type 1.		Q6UXL7|Q8NC72	Missense_Mutation	SNP	ENST00000320743.3	37	c.1533A>G	CCDS8960.1	.	.	.	.	.	.	.	.	.	.	T	11.83	1.754441	0.31046	.	.	ENSG00000139263	ENST00000379141;ENST00000320743	T;T	0.66815	-0.23;-0.23	6.04	3.53	0.40419	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.41097	D	0.000958	T	0.65004	0.2650	L	0.41124	1.26	0.51767	D	0.999936	B;P	0.48640	0.037;0.913	B;P	0.54372	0.057;0.75	T	0.61352	-0.7080	9	.	.	.	.	7.8116	0.29234	0.2339:0.0:0.1034:0.6627	.	451;511	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	M	451;511	ENSP00000368436:I451M;ENSP00000326759:I511M	.	I	-	3	3	LRIG3	57560898	0.999000	0.42202	1.000000	0.80357	0.976000	0.68499	0.445000	0.21677	1.059000	0.40554	0.459000	0.35465	ATA		0.433	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		69	196	0	0	0	0.870114	0	69	196				
ABCA13	154664	broad.mit.edu	37	7	48413965	48413965	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr7:48413965T>G	ENST00000435803.1	+	34	11179	c.11155T>G	c.(11155-11157)Ttt>Gtt	p.F3719V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3719					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GACAACCGCCTTTGGACAAGG	0.413																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(11155-11157)Ttt>Gtt		ATP-binding cassette, sub-family A (ABC1), member 13							85.0	80.0	81.0					7																	48413965		1899	4110	6009	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48413965T>G	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.11155T>G	7.37:g.48413965T>G	ENSP00000411096:p.Phe3719Val						p.F3719V	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			34	11179	+			3719					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.11155T>G	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	T	19.10	3.761404	0.69763	.	.	ENSG00000179869	ENST00000435803	D	0.87491	-2.26	5.51	5.51	0.81932	.	0.000000	0.51477	D	0.000083	D	0.94288	0.8165	M	0.90483	3.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.94990	0.8133	10	0.62326	D	0.03	.	13.6602	0.62363	0.0:0.0:0.0:1.0	.	1421;3719	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	V	3719	ENSP00000411096:F3719V	ENSP00000411096:F3719V	F	+	1	0	ABCA13	48384511	1.000000	0.71417	1.000000	0.80357	0.586000	0.36452	4.971000	0.63749	2.210000	0.71456	0.533000	0.62120	TTT		0.413	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		5	19	0	0	0	0.248553	0	5	19				
TTK	7272	broad.mit.edu	37	6	80720550	80720550	+	Silent	SNP	A	A	G			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr6:80720550A>G	ENST00000369798.2	+	5	600	c.489A>G	c.(487-489)aaA>aaG	p.K163K	TTK_ENST00000509894.1_Silent_p.K163K|TTK_ENST00000230510.3_Silent_p.K163K	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	163					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		AAAAAAGTAAACAACTTCTTC	0.398																																						ENST00000509894.1																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53						c.(487-489)aaA>aaG		TTK protein kinase							48.0	51.0	50.0					6																	80720550		2202	4300	6502	SO:0001819	synonymous_variant	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80720550A>G		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.489A>G	6.37:g.80720550A>G						TTK_ENST00000230510.3_Silent_p.K163K|TTK_ENST00000369798.2_Silent_p.K163K	p.K163K			P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	5	1318	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	163					A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Silent	SNP	ENST00000369798.2	37	c.489A>G	CCDS4993.1																																																																																				0.398	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			21	51	0	0	0	0.608945	0	21	51				
MICAL1	64780	broad.mit.edu	37	6	109773738	109773738	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr6:109773738C>T	ENST00000358807.3	-	5	963	c.652G>A	c.(652-654)Gca>Aca	p.A218T	MICAL1_ENST00000483856.1_5'Flank|MICAL1_ENST00000368952.4_Missense_Mutation_p.A237T|MICAL1_ENST00000358577.3_Missense_Mutation_p.A218T	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	218	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		TTACCTCCTGCAGCCGAGATA	0.557																																						ENST00000368952.4																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(709-711)Gca>Aca		microtubule associated monooxygenase, calponin and LIM domain containing 1							45.0	44.0	44.0					6																	109773738		2203	4300	6503	SO:0001583	missense	64780				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding	g.chr6:109773738C>T	AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"""NEDD9 interacting protein with calponin homology and LIM domains"""	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.652G>A	6.37:g.109773738C>T	ENSP00000351664:p.Ala218Thr					MICAL1_ENST00000358577.3_Missense_Mutation_p.A218T|MICAL1_ENST00000358807.3_Missense_Mutation_p.A218T	p.A237T			Q8TDZ2	MICA1_HUMAN		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)	5	999	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	218					B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	ENST00000358807.3	37	c.709G>A	CCDS5076.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.002977	0.54254	.	.	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000431946	T;T;T;T	0.20332	2.08;2.08;2.08;2.08	6.08	6.08	0.98989	.	0.247601	0.40818	N	0.001014	T	0.09730	0.0239	L	0.33485	1.01	0.33793	D	0.625717	B;P;P	0.46912	0.03;0.886;0.819	B;B;B	0.37650	0.008;0.255;0.092	T	0.06588	-1.0818	10	0.36615	T	0.2	.	18.1573	0.89696	0.0:1.0:0.0:0.0	.	237;218;218	B7Z3R5;Q8TDZ2-2;Q8TDZ2	.;.;MICA1_HUMAN	T	218;237;218;218	ENSP00000351664:A218T;ENSP00000357948:A237T;ENSP00000351385:A218T;ENSP00000407075:A218T	ENSP00000351385:A218T	A	-	1	0	MICAL1	109880431	0.926000	0.31397	1.000000	0.80357	0.208000	0.24298	7.373000	0.79623	2.894000	0.99253	0.655000	0.94253	GCA		0.557	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		15	43	0	0	0	0.539581	0	15	43				
DMBT1	1755	broad.mit.edu	37	10	124399561	124399561	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr10:124399561C>A	ENST00000338354.3	+	52	6667	c.6561C>A	c.(6559-6561)gaC>gaA	p.D2187E	DMBT1_ENST00000359586.6_Missense_Mutation_p.D907E|DMBT1_ENST00000368909.3_Missense_Mutation_p.D2187E|DMBT1_ENST00000368956.2_Missense_Mutation_p.D1559E|DMBT1_ENST00000344338.3_Missense_Mutation_p.D2177E|DMBT1_ENST00000368955.3_Missense_Mutation_p.D2177E|DMBT1_ENST00000330163.4_Missense_Mutation_p.D1559E			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2187	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCTAGGCAGACAATGACACCA	0.527																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000368909.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(6559-6561)gaC>gaA		deleted in malignant brain tumors 1							62.0	59.0	60.0					10																	124399561		2087	4236	6323	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124399561C>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.6561C>A	10.37:g.124399561C>A	ENSP00000342210:p.Asp2187Glu					DMBT1_ENST00000368956.2_Missense_Mutation_p.D1559E|DMBT1_ENST00000338354.3_Missense_Mutation_p.D2187E|DMBT1_ENST00000368955.3_Missense_Mutation_p.D2177E|DMBT1_ENST00000344338.3_Missense_Mutation_p.D2177E|DMBT1_ENST00000359586.6_Missense_Mutation_p.D907E|DMBT1_ENST00000330163.4_Missense_Mutation_p.D1559E	p.D2187E	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN			52	6667	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	2187			ZP.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.6561C>A		.	.	.	.	.	.	.	.	.	.	C	14.37	2.514874	0.44763	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	T;T;T;T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44;-1.44;-1.44;-1.44	5.63	-1.4	0.08968	Zona pellucida sperm-binding protein (3);	.	.	.	.	T	0.59622	0.2207	N	0.12182	0.205	0.09310	N	1	B;P;B;P;B;P;P	0.39094	0.319;0.639;0.208;0.607;0.208;0.607;0.659	B;B;B;B;B;B;B	0.36719	0.111;0.231;0.047;0.146;0.084;0.146;0.228	T	0.53989	-0.8360	9	0.66056	D	0.02	.	4.6471	0.12577	0.3338:0.3674:0.0:0.2988	.	907;2167;1436;2316;1559;2177;2187	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	E	2187;2316;2187;2187;2187;2186;1559;2177;1559;1559;2187;2177;1559;333;907	ENSP00000342210:D2187E;ENSP00000343175:D2177E;ENSP00000327747:D1559E;ENSP00000357905:D2187E;ENSP00000357951:D2177E;ENSP00000357952:D1559E;ENSP00000352593:D907E	ENSP00000331522:D1559E	D	+	3	2	DMBT1	124389551	0.258000	0.24033	0.476000	0.27291	0.841000	0.47740	-0.250000	0.08830	0.007000	0.14760	-0.274000	0.10170	GAC		0.527	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		3	75	1	0	0.004672	0.115264	0.00497538	3	75				
SPATA16	83893	broad.mit.edu	37	3	172835423	172835423	+	Silent	SNP	G	G	C			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr3:172835423G>C	ENST00000351008.3	-	2	282	c.99C>G	c.(97-99)acC>acG	p.T33T		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	33					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			GGTGCGCTAAGGTGGACATTT	0.403																																						ENST00000351008.3																			0				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43						c.(97-99)acC>acG		spermatogenesis associated 16							276.0	258.0	264.0					3																	172835423		2203	4300	6503	SO:0001819	synonymous_variant	83893				cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding	g.chr3:172835423G>C	AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.99C>G	3.37:g.172835423G>C							p.T33T	NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)		2	282	-	Ovarian(172;0.00319)|Breast(254;0.197)		33					Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Silent	SNP	ENST00000351008.3	37	c.99C>G	CCDS3221.1																																																																																				0.403	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	NM_031955		207	423	0	0	0	0.870114	0	207	423				
LPCAT2	54947	broad.mit.edu	37	16	55583314	55583314	+	Splice_Site	SNP	A	A	G			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr16:55583314A>G	ENST00000262134.5	+	10	1245	c.1061A>G	c.(1060-1062)aAa>aGa	p.K354R		NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	354					glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						CGAAAATTGAAGTAAGTGTAT	0.363																																						ENST00000262134.5																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						c.e10+1		lysophosphatidylcholine acyltransferase 2							58.0	61.0	60.0					16																	55583314		2198	4300	6498	SO:0001630	splice_region_variant	54947				cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding	g.chr16:55583314A>G	AK000488	CCDS10753.1	16q12.2	2013-01-10	2007-12-17	2007-12-17	ENSG00000087253	ENSG00000087253		"""EF-hand domain containing"""	26032	protein-coding gene	gene with protein product		612040	"""acyltransferase like 1"""	AYTL1		16704971	Standard	NM_017839		Approved	FLJ20481	uc002eie.4	Q7L5N7	OTTHUMG00000133238	ENST00000262134.5:c.1061+1A>G	16.37:g.55583314A>G							p.K354_splice	NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN			10	1245	+			354					A3KBM1|Q6MZJ6|Q9NX23	Splice_Site	SNP	ENST00000262134.5	37	c.1061_splice	CCDS10753.1	.	.	.	.	.	.	.	.	.	.	A	17.94	3.511635	0.64522	.	.	ENSG00000087253	ENST00000262134	T	0.67171	-0.25	6.17	5.09	0.68999	.	0.132983	0.64402	D	0.000002	T	0.56920	0.2018	L	0.42245	1.32	0.35582	D	0.806391	P	0.42735	0.788	B	0.37692	0.256	T	0.65146	-0.6239	10	0.36615	T	0.2	-28.5497	12.3678	0.55238	0.9348:0.0:0.0652:0.0	.	354	Q7L5N7	PCAT2_HUMAN	R	354	ENSP00000262134:K354R	ENSP00000262134:K354R	K	+	2	0	LPCAT2	54140815	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.980000	0.76160	1.159000	0.42565	0.533000	0.62120	AAA		0.363	LPCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256977.2	NM_017839	Missense_Mutation	26	99	0	0	0	0.667858	0	26	99				
A2M	2	broad.mit.edu	37	12	9256907	9256907	+	Silent	SNP	G	G	A			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr12:9256907G>A	ENST00000318602.7	-	11	1501	c.1194C>T	c.(1192-1194)acC>acT	p.T398T		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	398					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	GCTCATCCGTGGTAGCATTGG	0.413																																						ENST00000318602.7																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77						c.(1192-1194)acC>acT		alpha-2-macroglobulin	Bacitracin(DB00626)|Becaplermin(DB00102)						165.0	161.0	162.0					12																	9256907		1930	4138	6068	SO:0001819	synonymous_variant	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9256907G>A	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.1194C>T	12.37:g.9256907G>A							p.T398T	NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN			11	1501	-			398					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Silent	SNP	ENST00000318602.7	37	c.1194C>T	CCDS44827.1																																																																																				0.413	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		8	31	0	0	0	0.278610	0	8	31				
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C	rs368458790		TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552																																						ENST00000566806.1																			0																																																			28313							g.chr16:32070612A>C																													16.37:g.32070612A>C														0	499	-									RNA	SNP	ENST00000566806.1	37																																																																																						0.552	RP11-1166P10.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432459.1			4	100	0	0	0	0.150653	0	4	100				
ZNF236	7776	broad.mit.edu	37	18	74671751	74671751	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr18:74671751C>G	ENST00000253159.8	+	29	5413	c.5215C>G	c.(5215-5217)Cgc>Ggc	p.R1739G	ZNF236_ENST00000320610.9_Missense_Mutation_p.R1741G	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1739					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CCAGCTGGAGCGCCACAGCCG	0.502																																						ENST00000253159.8																			0				NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94						c.(5215-5217)Cgc>Ggc		zinc finger protein 236							70.0	76.0	74.0					18																	74671751		2018	4192	6210	SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74671751C>G	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.5215C>G	18.37:g.74671751C>G	ENSP00000253159:p.Arg1739Gly					ZNF236_ENST00000320610.9_Missense_Mutation_p.R1741G	p.R1739G	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	29	5413	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	1739					B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	c.5215C>G	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.832365	0.32421	.	.	ENSG00000130856	ENST00000253159	T	0.26660	1.72	4.8	2.75	0.32379	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.41534	0.1163	L	0.49513	1.565	0.52099	D	0.99994	D	0.76494	0.999	D	0.85130	0.997	T	0.19877	-1.0292	10	0.51188	T	0.08	.	11.1207	0.48289	0.6315:0.3685:0.0:0.0	.	1739	Q9UL36	ZN236_HUMAN	G	1739	ENSP00000253159:R1739G	ENSP00000253159:R1739G	R	+	1	0	ZNF236	72800739	1.000000	0.71417	0.984000	0.44739	0.996000	0.88848	5.210000	0.65214	0.999000	0.39023	0.561000	0.74099	CGC		0.502	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			14	65	0	0	0	0.479597	0	14	65				
ATP10B	23120	broad.mit.edu	37	5	159992486	159992486	+	Silent	SNP	G	G	T	rs200376757		TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr5:159992486G>T	ENST00000327245.5	-	26	5206	c.4360C>A	c.(4360-4362)Cga>Aga	p.R1454R		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1454					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCTGGGATCGGCGATGGCTG	0.527																																						ENST00000327245.5																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75						c.(4360-4362)Cga>Aga		ATPase, class V, type 10B							132.0	127.0	128.0					5																	159992486		2030	4197	6227	SO:0001819	synonymous_variant	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:159992486G>T	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.4360C>A	5.37:g.159992486G>T							p.R1454R	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		26	5206	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	1454					Q9H725	Silent	SNP	ENST00000327245.5	37	c.4360C>A	CCDS43394.1																																																																																				0.527	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		37	100	1	0	1.42033e-22	0.796494	1.83413e-22	37	100				
TPD52L3	89882	broad.mit.edu	37	9	6330998	6330998	+	IGR	SNP	G	G	A	rs192550349		TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr9:6330998G>A	ENST00000344545.5	+	0	2572				TPD52L3_ENST00000314556.3_Silent_p.T130T	NM_033516.5	NP_277051	Q96J77	TPD55_HUMAN	tumor protein D52-like 3									p.T130T(2)		large_intestine(1)|lung(9)|skin(1)	11		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		ATAAATACACGTTAAATCAAG	0.313													G|||	1	0.000199681	0.0	0.0	5008	,	,		20283	0.0		0.001	False		,,,				2504	0.0					ENST00000314556.3																			2	Substitution - coding silent(2)	p.T130T(2)	large_intestine(2)	large_intestine(1)|lung(9)|skin(1)	11						c.(388-390)acG>acA		tumor protein D52-like 3							102.0	101.0	101.0					9																	6330998		2202	4298	6500	SO:0001628	intergenic_variant	89882						protein binding	g.chr9:6330998G>A	AY032877	CCDS34984.1, CCDS34985.1, CCDS34986.1	9p24.1	2008-02-05			ENSG00000170777	ENSG00000170777			23382	protein-coding gene	gene with protein product							Standard	NM_033516		Approved	NYD-SP25	uc003zjw.3	Q96J77	OTTHUMG00000019518		9.37:g.6330998G>A							p.T130T	NM_001001874.2	NP_001001874.1	Q96J77	TPD55_HUMAN		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)	2	582	+		Acute lymphoblastic leukemia(23;0.158)	0					Q5TCR3|Q5TCR4|Q5TCR5|Q8N4P5|Q8WWF7|Q96M09	Silent	SNP	ENST00000344545.5	37	c.390G>A	CCDS34986.1																																																																																				0.313	TPD52L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051658.1	NM_033516		23	118	0	0	0	0.667858	0	23	118				
FIGN	55137	broad.mit.edu	37	2	164467772	164467772	+	Silent	SNP	G	G	A	rs200547675		TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr2:164467772G>A	ENST00000333129.3	-	3	884	c.570C>T	c.(568-570)aaC>aaT	p.N190N	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'Flank	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	190					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						AATATGATCCGTTGTATCCTG	0.502																																						ENST00000333129.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						c.(568-570)aaC>aaT		fidgetin							78.0	82.0	81.0					2																	164467772		2022	4179	6201	SO:0001819	synonymous_variant	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164467772G>A	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.570C>T	2.37:g.164467772G>A						FIGN_ENST00000409634.1_Intron	p.N190N	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN			3	884	-			190					B3KWM0|Q9H6M5|Q9NVZ9	Silent	SNP	ENST00000333129.3	37	c.570C>T	CCDS2221.2																																																																																				0.502	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		8	69	0	0	0	0.335167	0	8	69				
PLSCR2	57047	broad.mit.edu	37	3	146171942	146171942	+	Silent	SNP	G	G	A			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr3:146171942G>A	ENST00000497985.1	-	7	988	c.549C>T	c.(547-549)atC>atT	p.I183I	PLSCR2_ENST00000336685.2_Silent_p.I110I	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	183					phospholipid scrambling (GO:0017121)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid scramblase activity (GO:0017128)			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						GAGGAGCTTGGATTTCTATCT	0.328																																						ENST00000497985.1																			0				endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						c.(547-549)atC>atT		phospholipid scramblase 2							71.0	72.0	71.0					3																	146171942		2203	4300	6503	SO:0001819	synonymous_variant	57047				phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity	g.chr3:146171942G>A		CCDS56284.1, CCDS3134.1, CCDS75029.1	3q24	2008-07-18			ENSG00000163746	ENSG00000163746			16494	protein-coding gene	gene with protein product		607610				10930526	Standard	NM_001199978		Approved		uc003evw.2	Q9NRY7	OTTHUMG00000159429	ENST00000497985.1:c.549C>T	3.37:g.146171942G>A						PLSCR2_ENST00000336685.2_Silent_p.I110I	p.I183I	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN			7	988	-			110					B4DXC3|J3KR76|Q0VAQ1|Q6NSW9|Q7Z4L7	Silent	SNP	ENST00000497985.1	37	c.549C>T	CCDS56284.1																																																																																				0.328	PLSCR2-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000355264.1	NM_020359		14	56	0	0	0	0.435327	0	14	56				
NADSYN1	55191	broad.mit.edu	37	11	71185480	71185480	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr11:71185480G>T	ENST00000319023.2	+	9	894	c.706G>T	c.(706-708)Gac>Tac	p.D236Y	NADSYN1_ENST00000539574.1_5'Flank	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	236	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	GAAGGGTTGTGACGGGGACCG	0.557																																					Ovarian(79;763 1781 6490 50276)	ENST00000319023.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(706-708)Gac>Tac		NAD synthetase 1	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						118.0	105.0	109.0					11																	71185480		2200	4294	6494	SO:0001583	missense	55191				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding	g.chr11:71185480G>T	AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.706G>T	11.37:g.71185480G>T	ENSP00000326424:p.Asp236Tyr						p.D236Y	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN			9	894	+			236			CN hydrolase.		B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Missense_Mutation	SNP	ENST00000319023.2	37	c.706G>T	CCDS8201.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.536077	0.85812	.	.	ENSG00000172890	ENST00000319023	D	0.86769	-2.17	4.7	4.7	0.59300	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (3);	0.000000	0.85682	D	0.000000	D	0.94925	0.8359	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.96211	0.9153	10	0.87932	D	0	-37.3865	15.1483	0.72677	0.0:0.0:1.0:0.0	.	236	Q6IA69	NADE_HUMAN	Y	236	ENSP00000326424:D236Y	ENSP00000326424:D236Y	D	+	1	0	NADSYN1	70863128	1.000000	0.71417	0.900000	0.35374	0.951000	0.60555	8.541000	0.90644	2.139000	0.66308	0.561000	0.74099	GAC		0.557	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	NM_018161		18	132	1	0	5.45727e-16	0.729181	6.78024e-16	18	132				
ZNF423	23090	broad.mit.edu	37	16	49671562	49671562	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr16:49671562C>T	ENST00000561648.1	-	4	1554	c.1501G>A	c.(1501-1503)Gtc>Atc	p.V501I	ZNF423_ENST00000567169.1_Missense_Mutation_p.V384I|ZNF423_ENST00000562871.1_Missense_Mutation_p.V441I|ZNF423_ENST00000563137.2_Missense_Mutation_p.V441I|ZNF423_ENST00000535559.1_Missense_Mutation_p.V384I|ZNF423_ENST00000262383.2_Missense_Mutation_p.V501I|ZNF423_ENST00000562520.1_Missense_Mutation_p.V441I	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	501					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V501I(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CAGTGGGAGACGCGGATGTGC	0.562																																						ENST00000561648.1																			2	Substitution - Missense(2)	p.V501I(2)	endometrium(2)	breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89						c.(1501-1503)Gtc>Atc		zinc finger protein 423							97.0	86.0	90.0					16																	49671562		2198	4300	6498	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49671562C>T	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.1501G>A	16.37:g.49671562C>T	ENSP00000455426:p.Val501Ile					ZNF423_ENST00000563137.2_Missense_Mutation_p.V441I|ZNF423_ENST00000262383.2_Missense_Mutation_p.V501I|ZNF423_ENST00000562871.1_Missense_Mutation_p.V441I|ZNF423_ENST00000562520.1_Missense_Mutation_p.V441I|ZNF423_ENST00000535559.1_Missense_Mutation_p.V384I|ZNF423_ENST00000567169.1_Missense_Mutation_p.V384I	p.V501I	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN			4	1554	-		all_cancers(37;0.0155)	501					O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.1501G>A	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	C	1.199	-0.632984	0.03584	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.08720	3.06;3.12	4.64	3.69	0.42338	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.259107	0.37304	N	0.002149	T	0.03915	0.0110	N	0.05510	-0.035	0.31252	N	0.693906	B	0.06786	0.001	B	0.10450	0.005	T	0.28744	-1.0034	9	.	.	.	.	8.0088	0.30340	0.0:0.758:0.0:0.242	.	501	Q2M1K9	ZN423_HUMAN	I	501;384	ENSP00000262383:V501I;ENSP00000442321:V384I	.	V	-	1	0	ZNF423	48229063	0.925000	0.31364	0.956000	0.39512	0.447000	0.32167	1.863000	0.39459	0.959000	0.37980	0.561000	0.74099	GTC		0.562	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		6	75	0	0	0	0.248553	0	6	75				
CCT8L2	150160	broad.mit.edu	37	22	17072997	17072997	+	Silent	SNP	G	G	A			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr22:17072997G>A	ENST00000359963.3	-	1	703	c.444C>T	c.(442-444)ccC>ccT	p.P148P		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	148					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TGGCCAGGGAGGGCAGTGTGG	0.637																																						ENST00000359963.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67						c.(442-444)ccC>ccT		chaperonin containing TCP1, subunit 8 (theta)-like 2							51.0	49.0	49.0					22																	17072997		2203	4300	6503	SO:0001819	synonymous_variant	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17072997G>A	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.444C>T	22.37:g.17072997G>A							p.P148P	NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN			1	703	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	148					A4QPH3|Q9UJS3	Silent	SNP	ENST00000359963.3	37	c.444C>T	CCDS13738.1																																																																																				0.637	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			8	48	0	0	0	0.307466	0	8	48				
AZIN2	113451	broad.mit.edu	37	1	33583674	33583675	+	Frame_Shift_Ins	INS	-	-	C	rs576544248		TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr1:33583674_33583675insC	ENST00000294517.6	+	11	1788_1789	c.1201_1202insC	c.(1201-1203)accfs	p.T401fs	ADC_ENST00000398167.1_Frame_Shift_Ins_p.T421fs|ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373443.3_Frame_Shift_Ins_p.T401fs|ADC_ENST00000373441.1_Frame_Shift_Ins_p.T421fs	NM_052998.2	NP_443724.1	Q96A70	AZIN2_HUMAN		401					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of protein catabolic process (GO:0042177)|ornithine metabolic process (GO:0006591)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of catalytic activity (GO:0043085)|positive regulation of polyamine transmembrane transport (GO:1902269)|putrescine transport (GO:0015847)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|trans-Golgi network membrane organization (GO:0098629)	axon (GO:0030424)|cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|granular vesicle (GO:1990005)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	catalytic activity (GO:0003824)|ornithine decarboxylase activator activity (GO:0042978)|putrescine transmembrane transporter activity (GO:0015489)			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)	CTTTTGGGGGACCCAGGCCTGC	0.624																																						ENST00000294517.6																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11						c.(1201-1203)ccafs		arginine decarboxylase	L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)																																			SO:0001589	frameshift_variant	113451				polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity	g.chr1:33583674_33583675insC																												ENST00000294517.6:c.1204dupC	1.37:g.33583677_33583677dupC	ENSP00000294517:p.Thr401fs					ADC_ENST00000398167.1_Frame_Shift_Ins_p.P421fs|ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373443.3_Frame_Shift_Ins_p.P401fs|ADC_ENST00000373441.1_Frame_Shift_Ins_p.P421fs	p.P401fs	NM_052998.2	NP_443724.1	Q96A70	ADC_HUMAN			11	1788_1789	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	401					B2RDU5|D3DPQ9|Q5TIF4|Q5TIF5|Q5TIF6|Q8TF56|Q96L54|Q96L55|Q96L56|Q96L57|Q96MD9	Frame_Shift_Ins	INS	ENST00000294517.6	37	c.1201_1202insC	CCDS375.1																																																																																				0.624	ADC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011867.1			11	74						11	74	---	---	---	---
COL24A1	255631	broad.mit.edu	37	1	86591796	86591796	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr1:86591796delC	ENST00000370571.2	-	3	589	c.223delG	c.(223-225)gtcfs	p.V75fs	COL24A1_ENST00000436319.1_Frame_Shift_Del_p.V75fs	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	75					extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GTTAAATGGACCCCCTGAGGT	0.428																																						ENST00000370571.2																			0				NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.(223-225)tcfs		collagen, type XXIV, alpha 1							61.0	57.0	58.0					1																	86591796		1900	4116	6016	SO:0001589	frameshift_variant	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86591796delC	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.223delG	1.37:g.86591796delC	ENSP00000359603:p.Val75fs					COL24A1_ENST00000436319.1_Frame_Shift_Del_p.V75fs	p.V75fs	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	3	589	-			75			TSP N-terminal.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Frame_Shift_Del	DEL	ENST00000370571.2	37	c.223delG	CCDS41353.1																																																																																				0.428	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		7	101						7	101	---	---	---	---
PRG4	10216	broad.mit.edu	37	1	186276284	186276286	+	In_Frame_Del	DEL	CTC	CTC	-	rs200031345|rs145095882|rs143141440	byFrequency	TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr1:186276284_186276286delCTC	ENST00000445192.2	+	7	1478_1480	c.1433_1435delCTC	c.(1432-1437)actccc>acc	p.P479del	PRG4_ENST00000367486.3_In_Frame_Del_p.P436del|PRG4_ENST00000367485.4_In_Frame_Del_p.P386del|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_In_Frame_Del_p.P438del	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	479	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.P479delP(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						GCACCCACCACTCCCAAAGAGCC	0.65																																						ENST00000445192.2																			1	Deletion - In frame(1)	p.P479delP(1)	large_intestine(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1432-1437)acc>a		proteoglycan 4			,,,	348,3912		14,320,1796					,,,	-1.4	0.0			89	1023,7215		71,881,3167	no	coding,coding,coding,coding	PRG4	NM_005807.3,NM_001127710.1,NM_001127709.1,NM_001127708.1	,,,	85,1201,4963	A1A1,A1R,RR		12.4181,8.169,10.9698	,,,	,,,		1371,11127				SO:0001651	inframe_deletion	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276284_186276286delCTC	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1433_1435delCTC	1.37:g.186276284_186276286delCTC	ENSP00000399679:p.Pro479del					PRG4_ENST00000367486.3_In_Frame_Del_p.TP435del|PRG4_ENST00000367483.4_In_Frame_Del_p.TP437del|PRG4_ENST00000367485.4_In_Frame_Del_p.TP385del|PRG4_ENST00000367484.3_Intron	p.TP478del	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1478_1480	+			478			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	In_Frame_Del	DEL	ENST00000445192.2	37	c.1433_1435delCTC	CCDS1369.1																																																																																				0.650	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		11	97						11	97	---	---	---	---
NR4A2	4929	broad.mit.edu	37	2	157182714	157182715	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr2:157182714_157182715insA	ENST00000339562.4	-	7	1849_1850	c.1487_1488insT	c.(1486-1488)atgfs	p.M496fs	NR4A2_ENST00000426264.1_Frame_Shift_Ins_p.M433fs|NR4A2_ENST00000429376.1_Frame_Shift_Ins_p.E399fs|NR4A2_ENST00000409108.2_Frame_Shift_Ins_p.E462fs|NR4A2_ENST00000409572.1_Frame_Shift_Ins_p.M496fs|NR4A2_ENST00000539077.1_Frame_Shift_Ins_p.M507fs	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	496					adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						TGTCGATGTTCATATTCTGCAA	0.515																																						ENST00000339562.4																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						c.(1486-1488)aaafs		nuclear receptor subfamily 4, group A, member 2																																				SO:0001589	frameshift_variant	4929				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr2:157182714_157182715insA	X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"""Nuclear hormone receptors"""	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.1488dupT	2.37:g.157182715_157182715dupA	ENSP00000344479:p.Met496fs					NR4A2_ENST00000409572.1_Frame_Shift_Ins_p.K496fs|NR4A2_ENST00000539077.1_Frame_Shift_Ins_p.K507fs|NR4A2_ENST00000409108.2_Frame_Shift_Ins_p.*T461fs|NR4A2_ENST00000426264.1_Frame_Shift_Ins_p.K433fs|NR4A2_ENST00000429376.1_Frame_Shift_Ins_p.*T398fs	p.K496fs	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN			7	1849_1850	-			496					Q16311|Q53RZ2|Q6NXU0	Frame_Shift_Ins	INS	ENST00000339562.4	37	c.1487_1488insT	CCDS2201.1																																																																																				0.515	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254909.2			22	71						22	71	---	---	---	---
SLC51A	200931	broad.mit.edu	37	3	195955100	195955102	+	In_Frame_Del	DEL	CTG	CTG	-	rs142849558		TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr3:195955100_195955102delCTG	ENST00000296327.5	+	5	686_688	c.477_479delCTG	c.(475-480)ccctgc>ccc	p.C164del		NM_152672.5	NP_689885.4	Q86UW1	OSTA_HUMAN	solute carrier family 51, alpha subunit	164	Poly-Cys.				bile acid and bile salt transport (GO:0015721)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)									Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)	ACACAGGCCCctgctgctgctgc	0.665																																						ENST00000296327.5																			0											c.(475-480)ccc>cc		solute carrier family 51, alpha subunit				166,4098		0,166,1966						5.5	1.0		dbSNP_134	89	364,7890		0,364,3763	no	coding	OSTalpha	NM_152672.5		0,530,5729	A1A1,A1R,RR		4.41,3.8931,4.2339				530,11988				SO:0001651	inframe_deletion	200931							g.chr3:195955100_195955102delCTG		CCDS3314.1	3q29	2013-05-22			ENSG00000163959	ENSG00000163959		"""Solute carriers"""	29955	protein-coding gene	gene with protein product	"""organic solute transporter, alpha subunit"""	612084				12719432, 20538072	Standard	NM_152672		Approved	OSTalpha	uc003fwd.3	Q86UW1	OTTHUMG00000155684	ENST00000296327.5:c.477_479delCTG	3.37:g.195955109_195955111delCTG	ENSP00000296327:p.Cys164del						p.PC159del	NM_152672.5	NP_689885.4					5	686_688	+								Q6ZMC7	In_Frame_Del	DEL	ENST00000296327.5	37	c.477_479delCTG	CCDS3314.1																																																																																				0.665	SLC51A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341253.1	NM_152672		9	248						9	248	---	---	---	---
RP11-6N13.1	0	broad.mit.edu	37	5	103978776	103978779	+	lincRNA	DEL	GAAG	GAAG	-	rs570947990|rs530206662|rs202069888		TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr5:103978776_103978779delGAAG	ENST00000503650.1	-	0	328																											agagagaaaagaaggaaggaagga	0.348																																						ENST00000503650.1																			0																																																			0							g.chr5:103978776_103978779delGAAG																													5.37:g.103978784_103978787delGAAG														0	328	-									RNA	DEL	ENST00000503650.1	37																																																																																						0.348	RP11-6N13.1-007	PUTATIVE	basic	lincRNA	lincRNA	OTTHUMT00000371852.1			3	4						3	4	---	---	---	---
TRBV7-1	28597	broad.mit.edu	37	7	142032162	142032163	+	RNA	DEL	GA	GA	-	rs149220181|rs549861664	byFrequency	TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr7:142032162_142032163delGA	ENST00000547918.2	+	0	82									T cell receptor beta variable 7-1 (non-functional)																		atgtgtgtgtgAGAGAGAGAGA	0.505																																						ENST00000547918.2																			0																																																			28597							g.chr7:142032162_142032163delGA	X61444		7q34	2012-02-07	2008-09-12		ENSG00000211707	ENSG00000211707		"""T cell receptors / TRB locus"""	12235	other	T cell receptor gene			"""T cell receptor beta variable 7-1"""			8650574	Standard	NG_001333		Approved	TRBV71, TCRBV6S7P, TCRBV7S1			OTTHUMG00000158529		7.37:g.142032172_142032173delGA														0	82	+									RNA	DEL	ENST00000547918.2	37																																																																																						0.505	TRBV7-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351235.1	NG_001333		4	9						4	9	---	---	---	---
FABP5P3	220832	broad.mit.edu	37	7	152140120	152140121	+	RNA	INS	-	-	T	rs369275156|rs112177366		TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr7:152140120_152140121insT	ENST00000477993.1	+	0	875_876					NR_002935.1		A8MUU1	FB5L3_HUMAN	fatty acid binding protein 5 pseudogene 3								lipid binding (GO:0008289)|transporter activity (GO:0005215)										CTGTTTCTTTCTTTTTTTTTTC	0.327																																						ENST00000477993.1																			0																																																			220832							g.chr7:152140120_152140121insT			7q36.1	2010-10-12	2010-10-12	2010-10-12	ENSG00000241735	ENSG00000241735			22573	pseudogene	pseudogene			"""fatty acid binding protein 5-like 3"", ""fatty acid binding protein 5-like 3 (pseudogene)"""	FABP5L3			Standard	NR_002935		Approved	TCAG_1781704	uc003wlb.3	A8MUU1	OTTHUMG00000157257		7.37:g.152140130_152140130dupT								NR_002935.1						0	875_876	+									RNA	INS	ENST00000477993.1	37																																																																																						0.327	FABP5P3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000348208.1	NR_002935		3	3						3	3	---	---	---	---
RUNX1T1	862	broad.mit.edu	37	8	93017415	93017415	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr8:93017415delG	ENST00000523629.1	-	6	1123	c.669delC	c.(667-669)accfs	p.T224fs	RUNX1T1_ENST00000396218.1_Frame_Shift_Del_p.T197fs|RUNX1T1_ENST00000520724.1_Frame_Shift_Del_p.T187fs|RUNX1T1_ENST00000360348.2_Frame_Shift_Del_p.T187fs|RUNX1T1_ENST00000436581.2_Frame_Shift_Del_p.T235fs|RUNX1T1_ENST00000422361.2_Frame_Shift_Del_p.T187fs|RUNX1T1_ENST00000518844.1_Frame_Shift_Del_p.T197fs|RUNX1T1_ENST00000265814.3_Frame_Shift_Del_p.T224fs|RUNX1T1_ENST00000521553.1_Frame_Shift_Del_p.T187fs	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	224					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T223T(1)|p.T186T(1)|p.T234T(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CAGGTGAGGTGGTGCTGGCAT	0.592																																						ENST00000523629.1																			3	Substitution - coding silent(3)	p.T223T(1)|p.T186T(1)|p.T234T(1)	lung(3)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86						c.(667-669)acfs		runt-related transcription factor 1; translocated to, 1 (cyclin D-related)							194.0	156.0	169.0					8																	93017415		2203	4300	6503	SO:0001589	frameshift_variant	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:93017415delG	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.669delC	8.37:g.93017415delG	ENSP00000428543:p.Thr224fs					RUNX1T1_ENST00000518844.1_Frame_Shift_Del_p.T197fs|RUNX1T1_ENST00000396218.1_Frame_Shift_Del_p.T197fs|RUNX1T1_ENST00000436581.2_Frame_Shift_Del_p.T235fs|RUNX1T1_ENST00000422361.2_Frame_Shift_Del_p.T187fs|RUNX1T1_ENST00000265814.3_Frame_Shift_Del_p.T224fs|RUNX1T1_ENST00000360348.2_Frame_Shift_Del_p.T187fs|RUNX1T1_ENST00000521553.1_Frame_Shift_Del_p.T187fs|RUNX1T1_ENST00000520724.1_Frame_Shift_Del_p.T187fs	p.T224fs	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		6	1123	-			224					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Frame_Shift_Del	DEL	ENST00000523629.1	37	c.669delC	CCDS6256.1																																																																																				0.592	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		41	197						41	197	---	---	---	---
LURAP1L	286343	broad.mit.edu	37	9	12775861	12775862	+	In_Frame_Ins	INS	-	-	GGCGGC	rs3833707|rs139315731		TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr9:12775861_12775862insGGCGGC	ENST00000319264.3	+	1	842_843	c.147_148insGGCGGC	c.(148-150)ggc>GGCGGCggc	p.50_50G>GGG	LURAP1L_ENST00000489107.1_3'UTR|RP11-3L8.3_ENST00000417638.1_RNA	NM_203403.1	NP_981948.1	Q8IV03	LUR1L_HUMAN	leucine rich adaptor protein 1-like	53	Gly-rich.							p.G49_G50insGGG(2)|p.G50_G52delGGG(1)									gcggtggtggtggcggcggcgg	0.688																																						ENST00000319264.3																			3	Insertion - In frame(2)|Deletion - In frame(1)	p.G49_G50insGGG(2)|p.G50_G52delGGG(1)	large_intestine(1)|prostate(1)|central_nervous_system(1)								c.(145-150)gggcgg>ggGGCGGCgcgg		leucine rich adaptor protein 1-like																																				SO:0001652	inframe_insertion	286343							g.chr9:12775861_12775862insGGCGGC	AK095824	CCDS6473.1	9p22.3	2012-02-01	2012-02-01	2012-02-01	ENSG00000153714	ENSG00000153714			31452	protein-coding gene	gene with protein product	"""similar to DNA segment, Chr 4, Brigham & Womens Genetics 0951 expressed"""		"""chromosome 9 open reading frame 150"""	C9orf150		12766061	Standard	NM_203403		Approved	MGC46502, FLJ38505, bA3L8.2	uc003zkw.3	Q8IV03	OTTHUMG00000019557	ENST00000319264.3:c.160_165dupGGCGGC	9.37:g.12775862_12775867dupGGCGGC	ENSP00000321026:p.GlyGly54dup					RP11-3L8.3_ENST00000417638.1_RNA|LURAP1L_ENST00000489107.1_3'UTR	p.49_50GR>GAAR	NM_203403.1	NP_981948.1	Q8IV03	CI150_HUMAN			1	842_843	+			49		Missing.	Gly-rich.		Q5VZX7|Q8N923|Q8NCG2	In_Frame_Ins	INS	ENST00000319264.3	37	c.147_148insGGCGGC	CCDS6473.1																																																																																				0.688	LURAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051730.1	NM_203403		3	4						3	4	---	---	---	---
KRTAP5-5	439915	broad.mit.edu	37	11	1651199	1651228	+	In_Frame_Del	DEL	AGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	AGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	-	rs190828070|rs71454096|rs71025763|rs144216147|rs369130959	byFrequency	TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr11:1651199_1651228delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	ENST00000399676.2	+	1	167_196	c.129_158delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	c.(127-159)ggaggctgtgggggctgtggctccggctgtgcg>ggg	p.GCGGCGSGCA44del		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	44						keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ccggctgtggaggctgtgggggctgtggctccggctgtgcgggctgtggg	0.691																																						ENST00000399676.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33						c.(127-159)ggg>gg		keratin associated protein 5-5				1550,180,1680		393,53,711,32,63,453						3.0	0.7		dbSNP_130	23	2914,455,3725		670,91,1483,84,196,1023	no	codingComplex	KRTAP5-5	NM_001001480.2		1063,144,2194,116,259,1476	A1A1,A1A2,A1R,A2A2,A2R,RR		47.4908,50.7331,48.5434				4464,635,5405				SO:0001651	inframe_deletion	439915					keratin filament		g.chr11:1651199_1651228delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"""Keratin associated proteins"""	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.129_158delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	11.37:g.1651199_1651228delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	ENSP00000382584:p.Gly44_Ala53del						p.GGCGGCGSGCA43del	NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	167_196	+		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	43	G -> GGCGS (in Ref. 1; BAD20201 and 2; CAF31639).				A8MWN2	In_Frame_Del	DEL	ENST00000399676.2	37	c.129_158delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	CCDS41592.1																																																																																				0.691	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			52	8						52	8	---	---	---	---
USP35	57558	broad.mit.edu	37	11	77921387	77921388	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr11:77921387_77921388insC	ENST00000529308.1	+	10	2747_2748	c.2486_2487insC	c.(2485-2490)atccccfs	p.IP829fs	USP35_ENST00000530267.1_Frame_Shift_Ins_p.IP397fs|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Frame_Shift_Ins_p.IP560fs|USP35_ENST00000441408.2_Frame_Shift_Ins_p.IP415fs	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	829	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			GACGTCTCCATCCCCCTGCTGC	0.634																																						ENST00000529308.1																			0				endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23						c.(2485-2487)accfs		ubiquitin specific peptidase 35																																				SO:0001589	frameshift_variant	57558				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr11:77921387_77921388insC	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"""Ubiquitin-specific peptidases"""	20061	protein-coding gene	gene with protein product			"""ubiquitin specific protease 35"""			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.2491dupC	11.37:g.77921392_77921392dupC	ENSP00000431876:p.Ile829fs					USP35_ENST00000530267.1_Frame_Shift_Ins_p.T397fs|USP35_ENST00000526425.1_Frame_Shift_Ins_p.T560fs|USP35_ENST00000441408.2_Frame_Shift_Ins_p.T415fs|USP35_ENST00000530535.1_3'UTR	p.T829fs	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		10	2747_2748	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		829						Frame_Shift_Ins	INS	ENST00000529308.1	37	c.2486_2487insC	CCDS41693.1																																																																																				0.634	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		18	170						18	170	---	---	---	---
LYPD3	27076	broad.mit.edu	37	19	43969653	43969655	+	In_Frame_Del	DEL	AGC	AGC	-	rs141441894	byFrequency	TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr19:43969653_43969655delAGC	ENST00000244333.3	-	1	157_159	c.69_71delGCT	c.(67-72)ctgctt>ctt	p.23_24LL>L		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	23					cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				ACCTCCGCGAAGCAGCAGCAGCA	0.675																																						ENST00000244333.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11						c.(67-72)ctt>ct		LY6/PLAUR domain containing 3																																				SO:0001651	inframe_deletion	27076					anchored to plasma membrane		g.chr19:43969653_43969655delAGC	AF082889	CCDS12620.1	19q13.31	2008-02-05				ENSG00000124466			24880	protein-coding gene	gene with protein product		609484				11179665, 11245483	Standard	NM_014400		Approved	C4.4A	uc002owl.1	O95274		ENST00000244333.3:c.69_71delGCT	19.37:g.43969662_43969664delAGC	ENSP00000244333:p.Leu24del						p.LL23del	NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN			1	157_159	-		Prostate(69;0.0153)	23					Q9UJ74	In_Frame_Del	DEL	ENST00000244333.3	37	c.69_71delGCT	CCDS12620.1																																																																																				0.675	LYPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463177.1	NM_014400		7	226						7	226	---	---	---	---
LILRB4	11006	broad.mit.edu	37	19	55179246	55179246	+	Splice_Site	DEL	T	T	-	rs386810941|rs139028841	byFrequency	TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr19:55179246delT	ENST00000391736.1	+	13	1515		c.e13+2		LILRB4_ENST00000391733.3_Splice_Site|LILRB4_ENST00000391734.3_Intron|LILRB4_ENST00000270452.2_Splice_Site|LILRB4_ENST00000430952.2_Splice_Site	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4						immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		GACACTGAGGTGAGTCCTTTC	0.617																																						ENST00000391736.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39						c.e13+2		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4			,	177,4083		12,153,1965	98.0	92.0	94.0		,	-0.1	0.0	19		95	100,8152		5,90,4031	no	splice-5,splice-5	LILRB4	NM_006847.3,NM_001081438.1	,	17,243,5996	A1A1,A1R,RR		1.2118,4.1549,2.2139	,	,	55179246	277,12235	2200	4299	6499	SO:0001630	splice_region_variant	11006					integral to membrane|plasma membrane	antigen binding|receptor activity	g.chr19:55179246delT	U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.1200+2T>-	19.37:g.55179246delT						LILRB4_ENST00000270452.2_Splice_Site|LILRB4_ENST00000391733.3_Splice_Site|LILRB4_ENST00000391734.3_Intron|LILRB4_ENST00000430952.2_Splice_Site		NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN		GBM - Glioblastoma multiforme(193;0.035)	13	1515	+								A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Splice_Site	DEL	ENST00000391736.1	37		CCDS12902.1																																																																																				0.617	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3		Intron	15	90						15	90	---	---	---	---
RPL23AP79	100271626	broad.mit.edu	37	19	59091278	59091279	+	RNA	INS	-	-	TTCC	rs201781447		TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr19:59091278_59091279insTTCC	ENST00000493504.1	+	0	129					NR_026052.1				ribosomal protein L23a pseudogene 79																		CTCTATTttctttccttccttc	0.446																																						ENST00000493504.1																			0																																																			100271626							g.chr19:59091278_59091279insTTCC			19q13.4	2009-03-11							36226	pseudogene	pseudogene						19123937	Standard	NG_010019		Approved						19.37:g.59091283_59091286dupTTCC								NR_026052.1						0	129	+									RNA	INS	ENST00000493504.1	37																																																																																						0.446	RPL23AP79-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000350753.1	NG_010019		3	5						3	5	---	---	---	---
ZBTB21	49854	broad.mit.edu	37	21	43413874	43413875	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chr21:43413874_43413875insC	ENST00000310826.5	-	3	513_514	c.330_331insG	c.(328-333)gggattfs	p.I111fs	ZBTB21_ENST00000398511.3_Frame_Shift_Ins_p.I111fs|ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398505.3_Frame_Shift_Ins_p.I111fs|ZBTB21_ENST00000398499.1_Frame_Shift_Ins_p.I111fs	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	111					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)										AGAAAGGAAATCCCAAGACTAT	0.376																																						ENST00000310826.5																			0											c.(328-333)ggtttcfs		zinc finger and BTB domain containing 21																																				SO:0001589	frameshift_variant	49854							g.chr21:43413874_43413875insC	AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13083	protein-coding gene	gene with protein product			"""zinc finger protein 295"""	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.331dupG	21.37:g.43413877_43413877dupC	ENSP00000308759:p.Ile111fs					ZBTB21_ENST00000398505.3_Frame_Shift_Ins_p.GF110fs|ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398511.3_Frame_Shift_Ins_p.GF110fs|ZBTB21_ENST00000398499.1_Frame_Shift_Ins_p.GF110fs	p.GF110fs	NM_001098402.1	NP_001091872.1					3	513_514	-								Q5R2W1|Q5R2W2|Q6P4R0	Frame_Shift_Ins	INS	ENST00000310826.5	37	c.330_331insG	CCDS13678.1																																																																																				0.376	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	NM_020727		16	50						16	50	---	---	---	---
SLITRK4	139065	broad.mit.edu	37	X	142718162	142718163	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-5355-01A-01D-1434-08	TCGA-CN-5355-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6	247f6eb8-26da-4232-ba2d-eba32e4098ae	g.chrX:142718162_142718163insT	ENST00000381779.4	-	2	987_988	c.762_763insA	c.(760-765)aaagaafs	p.E255fs	SLITRK4_ENST00000338017.4_Frame_Shift_Ins_p.E255fs|SLITRK4_ENST00000356928.1_Frame_Shift_Ins_p.E255fs	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	255	LRRCT 1.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TTGTTGGTTTCTTTTAAAAGCC	0.45																																						ENST00000381779.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60						c.(760-765)aaaaacfs		SLIT and NTRK-like family, member 4																																				SO:0001589	frameshift_variant	139065					integral to membrane		g.chrX:142718162_142718163insT	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.763dupA	X.37:g.142718166_142718166dupT	ENSP00000371198:p.Glu255fs					SLITRK4_ENST00000338017.4_Frame_Shift_Ins_p.N255fs|SLITRK4_ENST00000356928.1_Frame_Shift_Ins_p.N255fs	p.N255fs	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN			2	987_988	-	Acute lymphoblastic leukemia(192;6.56e-05)		255			LRRCT 1.		Q5JXG3|Q8TCM8|Q96DL3	Frame_Shift_Ins	INS	ENST00000381779.4	37	c.762_763insA	CCDS14679.1																																																																																				0.450	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		19	47						19	47	---	---	---	---
