#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
GRM1	2911	broad.mit.edu	37	6	146625950	146625950	+	Missense_Mutation	SNP	T	T	C	rs543060388		TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:146625950T>C	ENST00000282753.1	+	3	1389	c.1154T>C	c.(1153-1155)cTg>cCg	p.L385P	GRM1_ENST00000361719.2_Missense_Mutation_p.L385P|GRM1_ENST00000507907.1_Missense_Mutation_p.L385P|GRM1_ENST00000355289.4_Missense_Mutation_p.L385P|GRM1_ENST00000492807.2_Missense_Mutation_p.L385P|GRM1_ENST00000392299.2_Missense_Mutation_p.L385P			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	385					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)		GGACACCTTCTGGAAAATCCC	0.443																																						ENST00000392299.2																			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.(1153-1155)cTg>cCg		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						76.0	75.0	76.0					6																	146625950		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146625950T>C	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.1154T>C	6.37:g.146625950T>C	ENSP00000282753:p.Leu385Pro					GRM1_ENST00000282753.1_Missense_Mutation_p.L385P|GRM1_ENST00000507907.1_Missense_Mutation_p.L385P|GRM1_ENST00000355289.4_Missense_Mutation_p.L385P|GRM1_ENST00000492807.2_Missense_Mutation_p.L385P|GRM1_ENST00000361719.2_Missense_Mutation_p.L385P	p.L385P			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	4	1624	+		Ovarian(120;0.0387)	385					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.1154T>C	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	T	11.38	1.620462	0.28801	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11;-2.11;-2.11	6.06	3.68	0.42216	Extracellular ligand-binding receptor (1);	0.450054	0.22123	N	0.064319	T	0.62792	0.2457	N	0.25332	0.735	0.58432	D	0.999998	B;B;B	0.12630	0.001;0.006;0.001	B;B;B	0.12156	0.005;0.007;0.005	T	0.56643	-0.7945	10	0.30854	T	0.27	.	6.1559	0.20338	0.2512:0.066:0.0:0.6827	.	385;385;385	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	P	385	ENSP00000354896:L385P;ENSP00000376119:L385P;ENSP00000424095:L385P;ENSP00000282753:L385P;ENSP00000347437:L385P;ENSP00000425599:L385P	ENSP00000282753:L385P	L	+	2	0	GRM1	146667643	0.999000	0.42202	0.976000	0.42696	0.980000	0.70556	1.174000	0.31932	0.529000	0.28599	0.528000	0.53228	CTG		0.443	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		18	37	0	0	0	1	0	18	37				
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867	byFrequency	TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:145302714A>G	ENST00000369339.3	+	5	592	c.339A>G	c.(337-339)ttA>ttG	p.L113L	NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000342960.5_Silent_p.L384L|RP11-458D21.5_ENST00000468030.1_3'UTR			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	384						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527																																						ENST00000342960.5																			6	Substitution - coding silent(6)	p.L113L(3)|p.L384L(3)	prostate(2)|kidney(2)|central_nervous_system(2)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(1150-1152)ttA>ttG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145302714A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.339A>G	1.37:g.145302714A>G						NBPF10_ENST00000369339.2_Silent_p.L113L|NBPF10_ENST00000369338.1_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR	p.L384L	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	8	1187	+	all_hematologic(923;0.032)		384					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37	c.1152A>G																																																																																					0.527	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		5	66	0	0	0	1	0	5	66				
ADAMTSL3	57188	broad.mit.edu	37	15	84582010	84582010	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr15:84582010G>A	ENST00000286744.5	+	16	2091	c.1867G>A	c.(1867-1869)Gaa>Aaa	p.E623K	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.E623K	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	623	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTGCCTCCTGGAAGCATGTGA	0.612																																						ENST00000286744.5																			0				NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130						c.(1867-1869)Gaa>Aaa		ADAMTS-like 3							58.0	51.0	53.0					15																	84582010		2203	4300	6503	SO:0001583	missense	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84582010G>A	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.1867G>A	15.37:g.84582010G>A	ENSP00000286744:p.Glu623Lys					ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.E623K	p.E623K	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		16	2091	+			623			TSP type-1 4.		A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	c.1867G>A	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	G	1.881	-0.457944	0.04508	.	.	ENSG00000156218	ENST00000286744	T	0.60797	0.16	4.9	-4.33	0.03677	.	1.634580	0.03223	N	0.177867	T	0.36138	0.0956	N	0.11789	0.175	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.12156	0.005;0.007	T	0.40757	-0.9546	10	0.07175	T	0.84	.	12.5715	0.56339	0.1302:0.6178:0.252:0.0	.	623;623	P82987-2;P82987	.;ATL3_HUMAN	K	623	ENSP00000286744:E623K	ENSP00000286744:E623K	E	+	1	0	ADAMTSL3	82373014	0.000000	0.05858	0.000000	0.03702	0.225000	0.24961	0.243000	0.18106	-0.846000	0.04174	0.563000	0.77884	GAA		0.612	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		18	26	0	0	0	1	0	18	26				
KCNMA1	3778	broad.mit.edu	37	10	78846265	78846265	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr10:78846265T>C	ENST00000286628.8	-	11	1420	c.1421A>G	c.(1420-1422)cAt>cGt	p.H474R	KCNMA1_ENST00000372443.1_Missense_Mutation_p.H474R|KCNMA1_ENST00000372440.1_Missense_Mutation_p.H474R|KCNMA1_ENST00000404857.1_Missense_Mutation_p.H474R|KCNMA1_ENST00000406533.3_Missense_Mutation_p.H474R|KCNMA1_ENST00000286627.5_Missense_Mutation_p.H474R|KCNMA1_ENST00000354353.5_Missense_Mutation_p.H474R|KCNMA1_ENST00000484507.1_5'Flank|KCNMA1_ENST00000404771.3_Missense_Mutation_p.H474R	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	474	RCK N-terminal.				blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	TGCAAGATCATGTGGATTGAG	0.502																																						ENST00000286627.5																			0				breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68						c.(1420-1422)cAt>cGt		potassium large conductance calcium-activated channel, subfamily M, alpha member 1	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)						119.0	115.0	117.0					10																	78846265		2203	4300	6503	SO:0001583	missense	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:78846265T>C	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.1421A>G	10.37:g.78846265T>C	ENSP00000286628:p.His474Arg					KCNMA1_ENST00000404857.1_Missense_Mutation_p.H474R|KCNMA1_ENST00000354353.5_Missense_Mutation_p.H474R|KCNMA1_ENST00000372443.1_Missense_Mutation_p.H474R|KCNMA1_ENST00000404771.3_Missense_Mutation_p.H474R|KCNMA1_ENST00000372440.1_Missense_Mutation_p.H474R|KCNMA1_ENST00000406533.3_Missense_Mutation_p.H474R|KCNMA1_ENST00000286628.8_Missense_Mutation_p.H474R	p.H474R	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		11	2373	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		474			RCK N-terminal.		F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	ENST00000286628.8	37	c.1421A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.19|16.19	3.052934|3.052934	0.55218|0.55218	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708|ENST00000372403	T;T;T;T;T;T;T;T;T|.	0.69306|.	-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39|.	6.03|6.03	6.03|6.03	0.97812|0.97812	Regulator of K+ conductance, N-terminal (1);NAD(P)-binding domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.40886|0.40886	0.1135|0.1135	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	P;B;B;B;B;B;B;B|.	0.41393|.	0.748;0.082;0.067;0.317;0.067;0.03;0.128;0.007|.	B;B;B;B;B;B;B;B|.	0.38225|.	0.253;0.194;0.122;0.268;0.122;0.033;0.122;0.003|.	T|T	0.36792|0.36792	-0.9733|-0.9733	10|5	0.39692|.	T|.	0.17|.	-11.8682|-11.8682	16.5582|16.5582	0.84512|0.84512	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	474;474;474;474;474;256;474;474|.	Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;F8WA96;Q5SVJ7|.	.;.;.;KCMA1_HUMAN;.;.;.;.|.	R|V	474;411;409;448;411;474;474;448;474;474;474;256|425	ENSP00000361517:H474R;ENSP00000361485:H411R;ENSP00000361514:H409R;ENSP00000396608:H448R;ENSP00000361520:H474R;ENSP00000286627:H474R;ENSP00000385552:H474R;ENSP00000346321:H474R;ENSP00000385806:H474R|.	ENSP00000286627:H474R|.	H|M	-|-	2|1	0|0	KCNMA1|KCNMA1	78516271|78516271	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	7.961000|7.961000	0.87903|0.87903	2.308000|2.308000	0.77769|0.77769	0.533000|0.533000	0.62120|0.62120	CAT|ATG		0.502	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		8	21	0	0	0	1	0	8	21				
GPR17	2840	broad.mit.edu	37	2	128409254	128409254	+	Silent	SNP	A	A	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:128409254A>G	ENST00000272644.3	+	3	1103	c.1029A>G	c.(1027-1029)aaA>aaG	p.K343K	LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000409455.1_Intron|GPR17_ENST00000393018.3_Silent_p.K343K|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000545738.2_Intron|LIMS2_ENST00000355119.4_Intron|LIMS2_ENST00000409254.1_5'Flank|LIMS2_ENST00000410011.1_Intron|GPR17_ENST00000544369.1_Silent_p.K343K|LIMS2_ENST00000324938.5_Intron	NM_001161416.1|NM_001161417.1|NM_005291.2	NP_001154888.1|NP_001154889.1|NP_005282.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	343					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		TCTGTGGCAAAAGGCTCAAGG	0.632																																						ENST00000544369.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19						c.(1027-1029)aaA>aaG		G protein-coupled receptor 17							67.0	80.0	76.0					2																	128409254		2203	4300	6503	SO:0001819	synonymous_variant	2840					integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled	g.chr2:128409254A>G		CCDS2148.1	2q21	2014-01-30			ENSG00000144230	ENSG00000144230		"""GPCR / Class A : Orphans"""	4471	protein-coding gene	gene with protein product		603071				8558062	Standard	NM_001161415		Approved		uc002tpc.3	Q13304	OTTHUMG00000131533	ENST00000272644.3:c.1029A>G	2.37:g.128409254A>G						LIMS2_ENST00000545738.2_Intron|GPR17_ENST00000393018.3_Silent_p.K343K|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000355119.4_Intron|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000409808.2_Intron|GPR17_ENST00000272644.3_Silent_p.K343K	p.K343K	NM_001161415.1	NP_001154887.1	Q13304	GPR17_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0677)	4	1640	+	Colorectal(110;0.1)	Ovarian(717;0.15)	343					A8K9L0|B2R9X0|Q8N5S7|Q9UDZ6|Q9UE21	Silent	SNP	ENST00000272644.3	37	c.1029A>G	CCDS2148.1																																																																																				0.632	GPR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254390.1			16	88	0	0	0	1	0	16	88				
MORC3	23515	broad.mit.edu	37	21	37741308	37741308	+	Missense_Mutation	SNP	C	C	G	rs200106421		TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr21:37741308C>G	ENST00000400485.1	+	15	1718	c.1642C>G	c.(1642-1644)Cgt>Ggt	p.R548G	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	548					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						ACTTTCTACTCGTTCCTCAAT	0.299																																						ENST00000400485.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						c.(1642-1644)Cgt>Ggt		MORC family CW-type zinc finger 3							36.0	32.0	33.0					21																	37741308		1823	4082	5905	SO:0001583	missense	23515				cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding	g.chr21:37741308C>G	AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"""zinc finger, CW-type with coiled-coil domain 3"", ""zinc finger, CW type with coiled-coil domain 3"""	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.1642C>G	21.37:g.37741308C>G	ENSP00000383333:p.Arg548Gly					MORC3_ENST00000487909.1_3'UTR	p.R548G	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN			15	1718	+			548					A8KA92|Q9UEZ2	Missense_Mutation	SNP	ENST00000400485.1	37	c.1642C>G	CCDS42924.1	.	.	.	.	.	.	.	.	.	.	C	5.657	0.305827	0.10733	.	.	ENSG00000159256	ENST00000400485	T	0.14516	2.5	5.53	2.07	0.26955	.	0.922068	0.09368	N	0.811701	T	0.09862	0.0242	L	0.44542	1.39	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37454	-0.9705	10	0.22706	T	0.39	-6.3574	1.5903	0.02653	0.1488:0.4261:0.146:0.2791	.	548	Q14149	MORC3_HUMAN	G	548	ENSP00000383333:R548G	ENSP00000383333:R548G	R	+	1	0	MORC3	36663178	0.009000	0.17119	0.808000	0.32385	0.989000	0.77384	0.660000	0.25009	1.337000	0.45525	0.491000	0.48974	CGT		0.299	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000194640.1	NM_015358		6	22	0	0	0	1	0	6	22				
CSHL1	1444	broad.mit.edu	37	17	61987372	61987372	+	Intron	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr17:61987372G>A	ENST00000309894.5	-	5	471				CSHL1_ENST00000561003.1_Silent_p.G124G|CSHL1_ENST00000450719.3_Silent_p.G113G|CSHL1_ENST00000392824.4_3'UTR|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000558099.1_5'UTR	NM_022579.1	NP_072101.1	Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1							extracellular region (GO:0005576)	hormone activity (GO:0005179)|metal ion binding (GO:0046872)			endometrium(3)|lung(6)	9						GTAGAGAAAGGCCTGGAGGAT	0.527																																						ENST00000450719.3																			0				endometrium(3)|lung(6)	9						c.(337-339)ggC>ggT		chorionic somatomammotropin hormone-like 1																																				SO:0001627	intron_variant	1444					extracellular region	hormone activity|metal ion binding	g.chr17:61987372G>A	BC029365	CCDS11652.1, CCDS42370.1, CCDS45759.1	17q22-q24	2012-10-02							2442	protein-coding gene	gene with protein product	"""chorionic somatomammotropin CS-5"""	603515		CSHP1		8083227	Standard	NM_001318		Approved	hCS-L, CSL, CS-5, MGC149868	uc002jda.1	Q14406		ENST00000309894.5:c.472-104C>T	17.37:g.61987372G>A						CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000309894.5_Intron|CSHL1_ENST00000561003.1_Silent_p.G124G|CSHL1_ENST00000392824.4_3'UTR|CSHL1_ENST00000259003.10_Intron	p.G113G			Q14406	CSHL_HUMAN			3	576	-			0					D3DU26|D3DU27|Q0VDB2	Silent	SNP	ENST00000309894.5	37	c.339C>T	CCDS11652.1																																																																																				0.527	CSHL1-009	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444557.1	NM_022579		27	83	0	0	0	1	0	27	83				
HSP90AB2P	391634	broad.mit.edu	37	4	13338496	13338496	+	RNA	SNP	A	A	G	rs11931734	byFrequency	TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:13338496A>G	ENST00000602906.1	+	0	448							Q58FF8	H90B2_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 2, pseudogene						protein folding (GO:0006457)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			kidney(3)|lung(1)	4						GCAATTTGGTATTGGCTTTTA	0.453													G|||	381	0.0760783	0.2511	0.0317	5008	,	,		21902	0.0		0.0189	False		,,,				2504	0.0082					ENST00000602906.1																			0				kidney(3)|lung(1)	4																																														391634							g.chr4:13338496A>G	AY956763		4p15.33	2012-04-18	2011-04-15		ENSG00000205940	ENSG00000205940			32537	pseudogene	pseudogene			"""heat shock protein 90kDa alpha (cytosolic), class B member 2 (pseudogene)"""			16269234	Standard	NG_032979		Approved	HSP90BB		Q58FF8			4.37:g.13338496A>G														0	448	+									RNA	SNP	ENST00000602906.1	37																																																																																						0.453	HSP90AB2P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000359156.2			4	67	0	0	0	1	0	4	67				
OTUD7A	161725	broad.mit.edu	37	15	31819495	31819495	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr15:31819495G>C	ENST00000307050.4	-	5	761	c.669C>G	c.(667-669)caC>caG	p.H223Q	OTUD7A_ENST00000382902.1_Missense_Mutation_p.H223Q	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	223	Catalytic. {ECO:0000250}.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding. {ECO:0000250}.				protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GGTCCCGGTCGTGAAACCCCC	0.577																																						ENST00000382902.1																			0				endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(667-669)caC>caG		OTU domain containing 7A							112.0	108.0	109.0					15																	31819495		2202	4300	6502	SO:0001583	missense	161725					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	g.chr15:31819495G>C	AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"""OTU domain containing"""	20718	protein-coding gene	gene with protein product		612024	"""chromosome 15 open reading frame 16"", ""OTU domain containing 7"", ""OTU domain containing 7A"""	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.669C>G	15.37:g.31819495G>C	ENSP00000305926:p.His223Gln					OTUD7A_ENST00000307050.4_Missense_Mutation_p.H223Q	p.H223Q			Q8TE49	OTU7A_HUMAN		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)	5	761	-		all_lung(180;1.6e-09)	223			Catalytic (By similarity).|OTU.|TRAF-binding (By similarity).		Q8IWK5	Missense_Mutation	SNP	ENST00000307050.4	37	c.669C>G	CCDS10026.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.941554	0.53079	.	.	ENSG00000169918	ENST00000307050;ENST00000382902	T;T	0.29397	1.57;1.57	5.6	-7.02	0.01589	Ovarian tumour, otubain (2);	0.000000	0.85682	D	0.000000	T	0.44371	0.1290	L	0.49571	1.57	0.36851	D	0.887887	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.57688	-0.7768	10	0.87932	D	0	-22.102	18.4074	0.90541	0.7161:0.0:0.2839:0.0	.	223;223	Q8TE49-2;Q8TE49	.;OTU7A_HUMAN	Q	223	ENSP00000305926:H223Q;ENSP00000372358:H223Q	ENSP00000305926:H223Q	H	-	3	2	OTUD7A	29606787	0.043000	0.20138	0.645000	0.29479	0.903000	0.53119	-0.560000	0.05964	-1.327000	0.02264	-1.948000	0.00487	CAC		0.577	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251393.2	NM_130901		17	93	0	0	0	1	0	17	93				
EXOC1	55763	broad.mit.edu	37	4	56763010	56763010	+	Missense_Mutation	SNP	G	G	T	rs142941850		TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:56763010G>T	ENST00000381295.2	+	16	2429	c.2081G>T	c.(2080-2082)cGt>cTt	p.R694L	EXOC1_ENST00000349598.6_Missense_Mutation_p.R679L|EXOC1_ENST00000346134.7_Missense_Mutation_p.R694L	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	694					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					AATGCTGAGCGTCGTGGAGAC	0.338																																						ENST00000381295.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35						c.(2080-2082)cGt>cTt		exocyst complex component 1							81.0	81.0	81.0					4																	56763010		2203	4300	6503	SO:0001583	missense	55763				exocytosis|protein transport	exocyst	protein binding	g.chr4:56763010G>T	AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"""SEC3-like 1 (S. cerevisiae)"""	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.2081G>T	4.37:g.56763010G>T	ENSP00000370695:p.Arg694Leu					EXOC1_ENST00000349598.6_Missense_Mutation_p.R679L|EXOC1_ENST00000346134.7_Missense_Mutation_p.R694L	p.R694L	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN			16	2429	+	Glioma(25;0.08)|all_neural(26;0.101)		694					Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	ENST00000381295.2	37	c.2081G>T	CCDS3502.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.537355	0.85812	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.77046	0.4073	M	0.82716	2.605	0.80722	D	1	P;P	0.46859	0.575;0.885	B;P	0.53809	0.121;0.735	T	0.72934	-0.4141	9	0.25106	T	0.35	.	20.3363	0.98740	0.0:0.0:1.0:0.0	.	679;694	Q9NV70-2;Q9NV70	.;EXOC1_HUMAN	L	694;694;679	.	ENSP00000326514:R694L	R	+	2	0	EXOC1	56457767	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.457000	0.97630	2.814000	0.96858	0.563000	0.77884	CGT		0.338	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261		14	49	1	0	6.31663e-08	1	7.34226e-08	14	49				
MUSK	4593	broad.mit.edu	37	9	113562629	113562629	+	Nonsense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr9:113562629C>A	ENST00000374448.4	+	15	2105	c.1971C>A	c.(1969-1971)taC>taA	p.Y657*	MUSK_ENST00000189978.5_Nonsense_Mutation_p.Y657*|MUSK_ENST00000416899.2_Nonsense_Mutation_p.Y649*	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	657	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TCTTTGAATACATGGCCTATG	0.507																																						ENST00000416899.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						c.(1945-1947)taC>taA		muscle, skeletal, receptor tyrosine kinase							130.0	136.0	134.0					9																	113562629		2115	4223	6338	SO:0001587	stop_gained	4593				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:113562629C>A	AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.1971C>A	9.37:g.113562629C>A	ENSP00000363571:p.Tyr657*					MUSK_ENST00000374448.4_Nonsense_Mutation_p.Y657*|MUSK_ENST00000189978.5_Nonsense_Mutation_p.Y657*	p.Y649*			O15146	MUSK_HUMAN			13	2073	+			657			Protein kinase.		Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Nonsense_Mutation	SNP	ENST00000374448.4	37	c.1947C>A	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	C	37	6.535476	0.97646	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000416899	.	.	.	5.16	2.23	0.28157	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.1325	0.42687	0.0:0.7627:0.0:0.2373	.	.	.	.	X	663;657;657;571;571;655	.	ENSP00000189978:Y663X	Y	+	3	2	MUSK	112602450	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.289000	0.51747	0.652000	0.30806	0.555000	0.69702	TAC		0.507	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				28	44	1	0	7.38237e-10	1	9.17203e-10	28	44				
PTDSS1	9791	broad.mit.edu	37	8	97321822	97321822	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr8:97321822C>T	ENST00000517309.1	+	9	1371	c.1045C>T	c.(1045-1047)Cgc>Tgc	p.R349C	Y_RNA_ENST00000362862.1_RNA|PTDSS1_ENST00000455950.2_Missense_Mutation_p.R203C|PTDSS1_ENST00000522072.1_Missense_Mutation_p.R146C	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	349					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	ACAGTGCAAGCGCGTAGGAAC	0.423																																						ENST00000517309.1																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29						c.(1045-1047)Cgc>Tgc		phosphatidylserine synthase 1	Phosphatidylserine(DB00144)						99.0	90.0	93.0					8																	97321822		2203	4300	6503	SO:0001583	missense	9791				phosphatidylserine biosynthetic process	integral to membrane	transferase activity	g.chr8:97321822C>T	D14694	CCDS6271.1	8q22	2008-05-02			ENSG00000156471	ENSG00000156471			9587	protein-coding gene	gene with protein product		612792					Standard	NM_014754		Approved	KIAA0024, PSSA, PSS1	uc003yht.1	P48651	OTTHUMG00000164687	ENST00000517309.1:c.1045C>T	8.37:g.97321822C>T	ENSP00000430548:p.Arg349Cys					PTDSS1_ENST00000522072.1_Missense_Mutation_p.R146C|PTDSS1_ENST00000455950.2_Missense_Mutation_p.R203C	p.R349C	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN			9	1371	+	Breast(36;6.18e-05)		349					E5RFC5|Q9BUQ5	Missense_Mutation	SNP	ENST00000517309.1	37	c.1045C>T	CCDS6271.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.856962	0.91433	.	.	ENSG00000156471	ENST00000517309;ENST00000455950;ENST00000522072	T;T;T	0.55930	0.57;0.57;0.49	5.79	5.79	0.91817	.	0.047393	0.85682	N	0.000000	T	0.77831	0.4189	M	0.91663	3.23	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82255	-0.0548	10	0.87932	D	0	-20.6778	14.0919	0.64995	0.1593:0.8407:0.0:0.0	.	349	P48651	PTSS1_HUMAN	C	349;203;146	ENSP00000430548:R349C;ENSP00000401248:R203C;ENSP00000430928:R146C	ENSP00000401248:R203C	R	+	1	0	PTDSS1	97390998	0.952000	0.32445	0.989000	0.46669	0.989000	0.77384	1.884000	0.39668	2.731000	0.93534	0.650000	0.86243	CGC		0.423	PTDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379743.2			5	51	0	0	0	1	0	5	51				
SYT13	57586	broad.mit.edu	37	11	45277359	45277359	+	Silent	SNP	C	C	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr11:45277359C>G	ENST00000020926.3	-	2	378	c.267G>C	c.(265-267)gtG>gtC	p.V89V	CTD-2560E9.5_ENST00000534342.1_RNA|CTD-2560E9.5_ENST00000531663.1_RNA	NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	89					vesicle-mediated transport (GO:0016192)	integral component of plasma membrane (GO:0005887)|transport vesicle (GO:0030133)				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						CTGGAGCCGTCACAGCTGGCC	0.547																																						ENST00000020926.3																			0				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						c.(265-267)gtG>gtC		synaptotagmin XIII							91.0	91.0	91.0					11																	45277359		2203	4299	6502	SO:0001819	synonymous_variant	57586					transport vesicle		g.chr11:45277359C>G	AB037848	CCDS31470.1	11p12-p11	2013-01-21			ENSG00000019505	ENSG00000019505		"""Synaptotagmins"""	14962	protein-coding gene	gene with protein product		607716				11171101	Standard	NM_020826		Approved	KIAA1427	uc001myq.2	Q7L8C5	OTTHUMG00000166504	ENST00000020926.3:c.267G>C	11.37:g.45277359C>G							p.V89V	NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN			2	378	-			89					A8K4P4|D3DQP1|Q9BQS3|Q9H041|Q9P2C0	Silent	SNP	ENST00000020926.3	37	c.267G>C	CCDS31470.1	.	.	.	.	.	.	.	.	.	.	C	9.686	1.150652	0.21371	.	.	ENSG00000019505	ENST00000528101	.	.	.	5.42	2.38	0.29361	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.8211	0.23857	0.0:0.56:0.3085:0.1314	.	.	.	.	S	49	.	.	X	-	2	2	SYT13	45233935	0.999000	0.42202	0.996000	0.52242	0.977000	0.68977	0.422000	0.21296	0.696000	0.31696	0.561000	0.74099	TGA		0.547	SYT13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390110.1	NM_020826		25	31	0	0	0	1	0	25	31				
OR2G6	391211	broad.mit.edu	37	1	248685492	248685492	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:248685492C>T	ENST00000343414.4	+	1	577	c.545C>T	c.(544-546)cCa>cTa	p.P182L		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTGAGGTGCCAGTGCTCATC	0.512																																						ENST00000343414.4																			0				NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(544-546)cCa>cTa		olfactory receptor, family 2, subfamily G, member 6							118.0	111.0	114.0					1																	248685492		2203	4300	6503	SO:0001583	missense	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685492C>T		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.545C>T	1.37:g.248685492C>T	ENSP00000341291:p.Pro182Leu						p.P182L	NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	577	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	182					B2RP33	Missense_Mutation	SNP	ENST00000343414.4	37	c.545C>T	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	N	15.28	2.786335	0.49997	.	.	ENSG00000188558	ENST00000343414	T	0.00188	8.59	3.68	1.69	0.24217	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44097	U	0.000490	T	0.00384	0.0012	M	0.69248	2.105	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.47849	-0.9085	10	0.52906	T	0.07	.	7.1676	0.25700	0.1682:0.7339:0.0:0.0979	.	182	Q5TZ20	OR2G6_HUMAN	L	182	ENSP00000341291:P182L	ENSP00000341291:P182L	P	+	2	0	OR2G6	246752115	0.000000	0.05858	0.943000	0.38184	0.915000	0.54546	0.437000	0.21543	0.723000	0.32274	0.400000	0.26472	CCA		0.512	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		21	42	0	0	0	1	0	21	42				
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	159605505	159605505	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:159605505G>C	ENST00000460298.1	+	5	1126	c.885G>C	c.(883-885)caG>caC	p.Q295H	IQCJ-SCHIP1_ENST00000412423.2_Missense_Mutation_p.Q322H|SCHIP1_ENST00000445224.2_Missense_Mutation_p.Q92H|IQCJ-SCHIP1_ENST00000476809.1_Missense_Mutation_p.Q384H|IQCJ-SCHIP1_ENST00000527095.1_Missense_Mutation_p.Q103H|IQCJ-SCHIP1_ENST00000337808.6_Missense_Mutation_p.Q335H|IQCJ-SCHIP1_ENST00000485419.1_Missense_Mutation_p.Q411H|SCHIP1_ENST00000482804.1_Missense_Mutation_p.Q108H					IQCJ-SCHIP1 readthrough											central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						AGAGCAAACAGAGTTCTTCCT	0.468																																						ENST00000337808.6																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						c.(1003-1005)caG>caC									178.0	187.0	184.0					3																	159605505		2203	4300	6503	SO:0001583	missense	100505385					cytoplasm	identical protein binding|protein binding	g.chr3:159605505G>C		CCDS56289.1, CCDS56291.1	3q25.33	2011-03-24			ENSG00000250588	ENSG00000250588			38842	other	readthrough							Standard	NM_001197113		Approved		uc003fcq.2		OTTHUMG00000162426	ENST00000460298.1:c.885G>C	3.37:g.159605505G>C	ENSP00000417305:p.Gln295His					IQCJ-SCHIP1_ENST00000485419.1_Missense_Mutation_p.Q411H|IQCJ-SCHIP1_ENST00000460298.1_Missense_Mutation_p.Q295H|IQCJ-SCHIP1_ENST00000527095.1_Missense_Mutation_p.Q103H|IQCJ-SCHIP1_ENST00000412423.2_Missense_Mutation_p.Q322H|SCHIP1_ENST00000482804.1_Missense_Mutation_p.Q108H|SCHIP1_ENST00000445224.2_Missense_Mutation_p.Q92H|IQCJ-SCHIP1_ENST00000476809.1_Missense_Mutation_p.Q384H	p.Q335H	NM_001197107.1|NM_014575.3	NP_001184036.1|NP_055390.1	Q9P0W5	SCHI1_HUMAN			5	1582	+			335						Missense_Mutation	SNP	ENST00000460298.1	37	c.1005G>C		.	.	.	.	.	.	.	.	.	.	G	21.6	4.167268	0.78339	.	.	ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000151967;ENSG00000151967	ENST00000476809;ENST00000485419;ENST00000337808;ENST00000412423;ENST00000527095;ENST00000460298;ENST00000445224;ENST00000482804	T;T;T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57;0.57;0.57;0.57	5.15	4.26	0.50523	.	0.000000	0.85682	D	0.000000	T	0.64757	0.2627	L	0.46157	1.445	0.54753	D	0.999987	D;D;D;D;D;D	0.76494	0.999;0.991;0.988;0.997;0.997;0.997	D;D;D;D;D;D	0.87578	0.998;0.991;0.977;0.995;0.997;0.995	T	0.66333	-0.5950	10	0.62326	D	0.03	.	13.4091	0.60931	0.0761:0.0:0.9239:0.0	.	295;108;92;322;335;411	C9J366;C9JWG6;Q9P0W5-4;Q9P0W5-2;Q9P0W5;Q9P0W5-5	.;.;.;.;SCHI1_HUMAN;.	H	384;411;335;322;103;295;92;108	ENSP00000418692:Q384H;ENSP00000420182:Q411H;ENSP00000337239:Q335H;ENSP00000400942:Q322H;ENSP00000436076:Q103H;ENSP00000417305:Q295H;ENSP00000404860:Q92H;ENSP00000419230:Q108H	ENSP00000337239:Q335H	Q	+	3	2	SCHIP1;IQCJ-SCHIP1	161088199	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.136000	0.64783	2.544000	0.85801	0.650000	0.86243	CAG		0.468	IQCJ-SCHIP1-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000352558.2	NM_001197113		68	149	0	0	0	1	0	68	149				
EYA4	2070	broad.mit.edu	37	6	133846193	133846193	+	Intron	SNP	C	C	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:133846193C>G	ENST00000367895.5	+	19	2202				RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000452339.2_Silent_p.G539G|EYA4_ENST00000531901.1_Intron|EYA4_ENST00000431403.2_Silent_p.G593G|EYA4_ENST00000430974.2_Silent_p.G545G|EYA4_ENST00000355167.3_Silent_p.G593G|EYA4_ENST00000525849.1_Silent_p.G570G|EYA4_ENST00000355286.6_Intron	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4						anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CCAGATTTGGCACTAACATAA	0.413																																					Melanoma(57;398 1237 3528 4702 7415)	ENST00000355167.3																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48						c.(1777-1779)ggC>ggG		eyes absent homolog 4 (Drosophila)							162.0	150.0	154.0					6																	133846193		2203	4300	6503	SO:0001627	intron_variant	2070				anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr6:133846193C>G	Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3522	protein-coding gene	gene with protein product		603550	"""eyes absent (Drosophila) homolog 4"", ""eyes absent homolog 4 (Drosophila)"""	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.1739-99C>G	6.37:g.133846193C>G						EYA4_ENST00000430974.2_Silent_p.G545G|EYA4_ENST00000531901.1_Intron|EYA4_ENST00000367895.5_Intron|EYA4_ENST00000355286.6_Intron|EYA4_ENST00000525849.1_Silent_p.G570G|EYA4_ENST00000452339.2_Silent_p.G539G|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000431403.2_Silent_p.G593G	p.G593G	NM_172105.3	NP_742103.1	O95677	EYA4_HUMAN		GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)	19	2237	+	Colorectal(23;0.221)		593					B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Silent	SNP	ENST00000367895.5	37	c.1779C>G	CCDS5165.1																																																																																				0.413	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100		23	66	0	0	0	1	0	23	66				
ABCD3	5825	broad.mit.edu	37	1	94964203	94964203	+	Nonsense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:94964203G>T	ENST00000370214.4	+	17	1456	c.1432G>T	c.(1432-1434)Gga>Tga	p.G478*	ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000454898.2_Nonsense_Mutation_p.G502*|ABCD3_ENST00000536817.1_Nonsense_Mutation_p.G405*|ABCD3_ENST00000394233.2_Nonsense_Mutation_p.G368*	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	478	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		AAATGGCTGCGGAAAGAGTTC	0.343																																						ENST00000370214.4																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26						c.(1432-1434)Gga>Tga		ATP-binding cassette, sub-family D (ALD), member 3							141.0	134.0	137.0					1																	94964203		2203	4300	6503	SO:0001587	stop_gained	5825				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94964203G>T	M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"""ATP binding cassette transporters / subfamily D"""	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.1432G>T	1.37:g.94964203G>T	ENSP00000359233:p.Gly478*					ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000536817.1_Nonsense_Mutation_p.G405*|ABCD3_ENST00000394233.2_Nonsense_Mutation_p.G368*|ABCD3_ENST00000454898.2_Nonsense_Mutation_p.G502*	p.G478*	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN		all cancers(265;0.0261)|Epithelial(280;0.165)	17	1456	+		all_lung(203;0.000434)|Lung NSC(277;0.0019)	478			ABC transporter.		D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Nonsense_Mutation	SNP	ENST00000370214.4	37	c.1432G>T	CCDS749.1	.	.	.	.	.	.	.	.	.	.	G	38	7.103264	0.98066	.	.	ENSG00000117528	ENST00000394233;ENST00000454898;ENST00000536817;ENST00000370214	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.732	20.1634	0.98142	0.0:0.0:1.0:0.0	.	.	.	.	X	368;502;405;478	.	ENSP00000359233:G478X	G	+	1	0	ABCD3	94736791	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.035000	0.93752	2.773000	0.95371	0.655000	0.94253	GGA		0.343	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029597.1	NM_002858		13	41	1	0	1.5842e-08	1	1.89014e-08	13	41				
TP53	7157	broad.mit.edu	37	17	7577081	7577081	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr17:7577081T>A	ENST00000269305.4	-	8	1046	c.857A>T	c.(856-858)gAa>gTa	p.E286V	TP53_ENST00000445888.2_Missense_Mutation_p.E286V|TP53_ENST00000455263.2_Missense_Mutation_p.E286V|TP53_ENST00000420246.2_Missense_Mutation_p.E286V|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.E286V	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	286	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:11023613, ECO:0000269|PubMed:8316628}.|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:8829627}.|E -> V (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.E286G(18)|p.E286V(9)|p.0?(8)|p.?(2)|p.E286fs*17(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E286A(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(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)	GAGATTCTCTTCCTCTGTGCG	0.562		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"""		51	Substitution - Missense(28)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Unknown(2)	p.E286G(18)|p.E286V(9)|p.0?(8)|p.?(2)|p.E286fs*17(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E286A(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1)	large_intestine(9)|liver(6)|haematopoietic_and_lymphoid_tissue(5)|upper_aerodigestive_tract(4)|lung(4)|breast(4)|bone(4)|stomach(3)|central_nervous_system(3)|urinary_tract(3)|oesophagus(2)|ovary(2)|soft_tissue(1)|skin(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	GRCh37	CM920679	TP53	M		c.(856-858)gAa>gTa	Other conserved DNA damage response genes	tumor protein p53							95.0	81.0	86.0					17																	7577081		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577081T>A	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.857A>T	17.37:g.7577081T>A	ENSP00000269305:p.Glu286Val	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_ENST00000269305.4_Missense_Mutation_p.E286V|TP53_ENST00000445888.2_Missense_Mutation_p.E286V|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.E286V|TP53_ENST00000455263.2_Missense_Mutation_p.E286V	p.E286V	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)	8	989	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	286		E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.857A>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	17.35	3.368431	0.61513	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99861	-7.26;-7.26;-7.26;-7.26;-7.26;-7.26	5.12	4.04	0.47022	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99832	0.9924	M	0.88031	2.925	0.80722	D	1	D;D;D;D	0.89917	1.0;0.994;0.999;1.0	D;D;D;D	0.81914	0.991;0.965;0.99;0.995	D	0.97546	1.0089	10	0.87932	D	0	-23.2961	9.0226	0.36209	0.0:0.0873:0.0:0.9127	.	286;286;286;286	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	V	286;286;286;286;286;275;154	ENSP00000352610:E286V;ENSP00000269305:E286V;ENSP00000398846:E286V;ENSP00000391127:E286V;ENSP00000391478:E286V;ENSP00000425104:E154V	ENSP00000269305:E286V	E	-	2	0	TP53	7517806	1.000000	0.71417	0.970000	0.41538	0.305000	0.27757	7.447000	0.80620	0.965000	0.38133	-0.379000	0.06801	GAA		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		15	27	0	0	0	1	0	15	27				
QPCTL	54814	broad.mit.edu	37	19	46205167	46205167	+	Missense_Mutation	SNP	G	G	A	rs369332200		TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:46205167G>A	ENST00000012049.5	+	6	1219	c.998G>A	c.(997-999)cGc>cAc	p.R333H	QPCTL_ENST00000366382.4_Missense_Mutation_p.R239H	NM_017659.3	NP_060129.2	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like	333					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1)	11		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		CCCTTCCTCCGCAGAGGTACC	0.592																																						ENST00000012049.5																			0				breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1)	11						c.(997-999)cGc>cAc		glutaminyl-peptide cyclotransferase-like							49.0	45.0	46.0					19																	46205167		2203	4300	6503	SO:0001583	missense	54814				peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	Golgi membrane|integral to membrane	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding	g.chr19:46205167G>A	AK000091	CCDS12672.1, CCDS54282.1	19q13.32	2014-09-04			ENSG00000011478	ENSG00000011478			25952	protein-coding gene	gene with protein product	"""glutaminyl cyclase-like"""						Standard	NM_017659		Approved	FLJ20084	uc010xxr.2	Q9NXS2	OTTHUMG00000182131	ENST00000012049.5:c.998G>A	19.37:g.46205167G>A	ENSP00000012049:p.Arg333His					QPCTL_ENST00000366382.4_Missense_Mutation_p.R239H	p.R333H	NM_017659.3	NP_060129.2	Q9NXS2	QPCTL_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)	6	1219	+		Ovarian(192;0.051)|all_neural(266;0.112)	333					Q53HE4|Q96F74	Missense_Mutation	SNP	ENST00000012049.5	37	c.998G>A	CCDS12672.1	.	.	.	.	.	.	.	.	.	.	g	16.04	3.010630	0.54361	.	.	ENSG00000011478	ENST00000012049;ENST00000366382	T;T	0.51574	0.7;0.7	5.96	2.61	0.31194	Peptidase M28 (1);	0.269668	0.44285	N	0.000470	T	0.36303	0.0962	L	0.43701	1.375	0.32814	D	0.501835	B	0.18013	0.025	B	0.09377	0.004	T	0.44065	-0.9352	10	0.54805	T	0.06	-21.4727	8.276	0.31873	0.2618:0.0:0.7382:0.0	.	333	Q9NXS2	QPCTL_HUMAN	H	333;239	ENSP00000012049:R333H;ENSP00000387944:R239H	ENSP00000012049:R333H	R	+	2	0	QPCTL	50897007	0.645000	0.27286	0.996000	0.52242	0.891000	0.51852	1.574000	0.36482	0.819000	0.34492	0.556000	0.70494	CGC		0.592	QPCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459656.1	NM_017659		13	16	0	0	0	1	0	13	16				
KCND2	3751	broad.mit.edu	37	7	119915618	119915618	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:119915618G>A	ENST00000331113.4	+	1	1897	c.932G>A	c.(931-933)cGc>cAc	p.R311H		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	311					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CAAGGCCTGCGCATCCTGGGG	0.507																																						ENST00000331113.4																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75						c.(931-933)cGc>cAc		potassium voltage-gated channel, Shal-related subfamily, member 2							101.0	83.0	89.0					7																	119915618		2203	4300	6503	SO:0001583	missense	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:119915618G>A	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.932G>A	7.37:g.119915618G>A	ENSP00000333496:p.Arg311His						p.R311H	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN			1	1897	+	all_neural(327;0.117)		311					O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	37	c.932G>A	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.694517	0.88830	.	.	ENSG00000184408	ENST00000331113	D	0.98889	-5.21	5.4	5.4	0.78164	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99281	0.9749	M	0.89163	3.01	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99239	1.0884	9	.	.	.	.	19.5371	0.95257	0.0:0.0:1.0:0.0	.	311	Q9NZV8	KCND2_HUMAN	H	311	ENSP00000333496:R311H	.	R	+	2	0	KCND2	119702854	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.009000	0.88606	2.706000	0.92434	0.557000	0.71058	CGC		0.507	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		13	46	0	0	0	1	0	13	46				
OR2T6	254879	broad.mit.edu	37	1	248551061	248551061	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:248551061T>C	ENST00000355728.2	+	1	152	c.152T>C	c.(151-153)aTa>aCa	p.I51T		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	51						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTGATTAACATAGACCCTCAT	0.458																																						ENST00000355728.2																			0				endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(151-153)aTa>aCa		olfactory receptor, family 2, subfamily T, member 6							231.0	185.0	200.0					1																	248551061		2203	4300	6503	SO:0001583	missense	254879				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248551061T>C	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"""GPCR / Class A : Olfactory receptors"""	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.152T>C	1.37:g.248551061T>C	ENSP00000347965:p.Ile51Thr						p.I51T	NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	152	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		51					A6NE36	Missense_Mutation	SNP	ENST00000355728.2	37	c.152T>C	CCDS31114.1	.	.	.	.	.	.	.	.	.	.	T	0.005	-2.141535	0.00332	.	.	ENSG00000198104	ENST00000355728	T	0.01203	5.18	4.38	-2.41	0.06562	GPCR, rhodopsin-like superfamily (1);	1.111700	0.06876	N	0.801677	T	0.00666	0.0022	N	0.02658	-0.545	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.48068	-0.9067	10	0.27785	T	0.31	.	9.0413	0.36319	0.0:0.5474:0.1735:0.2791	.	51	Q8NHC8	OR2T6_HUMAN	T	51	ENSP00000347965:I51T	ENSP00000347965:I51T	I	+	2	0	OR2T6	246617684	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.776000	0.01781	-0.563000	0.06078	-0.427000	0.05922	ATA		0.458	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471		18	57	0	0	0	1	0	18	57				
SLCO1B1	10599	broad.mit.edu	37	12	21327510	21327510	+	Splice_Site	SNP	G	G	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr12:21327510G>C	ENST00000256958.2	+	4	322		c.e4-1			NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1						bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	TCCCTTTCTAGGAAATTTGCT	0.363																																						ENST00000256958.2																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70						c.e4-1		solute carrier organic anion transporter family, member 1B1	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)						158.0	141.0	146.0					12																	21327510		2203	4300	6503	SO:0001630	splice_region_variant	10599				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	g.chr12:21327510G>C		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.227-1G>C	12.37:g.21327510G>C								NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN			4	322	+								B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Splice_Site	SNP	ENST00000256958.2	37		CCDS8685.1	.	.	.	.	.	.	.	.	.	.	-	16.13	3.034913	0.54896	.	.	ENSG00000134538	ENST00000256958	.	.	.	3.66	3.66	0.41972	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0635	0.64815	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLCO1B1	21218777	1.000000	0.71417	0.999000	0.59377	0.785000	0.44390	8.689000	0.91265	2.038000	0.60285	0.305000	0.20034	.		0.363	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446	Intron	20	33	0	0	0	1	0	20	33				
AMOTL1	154810	broad.mit.edu	37	11	94533290	94533290	+	Nonsense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr11:94533290G>T	ENST00000433060.2	+	3	1075	c.934G>T	c.(934-936)Gag>Tag	p.E312*	AMOTL1_ENST00000317837.9_Nonsense_Mutation_p.E312*|AMOTL1_ENST00000317829.8_Nonsense_Mutation_p.E262*	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	312					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				TCCTCCACCTGAGTACCCCTT	0.602																																						ENST00000433060.2																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36						c.(934-936)Gag>Tag		angiomotin like 1							92.0	95.0	94.0					11																	94533290		1939	4131	6070	SO:0001587	stop_gained	154810					cytoplasm|tight junction	identical protein binding	g.chr11:94533290G>T	AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"""junction-enriched and associated protein"""	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.934G>T	11.37:g.94533290G>T	ENSP00000387739:p.Glu312*					AMOTL1_ENST00000317837.9_Nonsense_Mutation_p.E312*|AMOTL1_ENST00000317829.8_Nonsense_Mutation_p.E262*	p.E312*	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN			3	1075	+		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)	312					Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Nonsense_Mutation	SNP	ENST00000433060.2	37	c.934G>T	CCDS44712.1	.	.	.	.	.	.	.	.	.	.	G	37	6.540864	0.97650	.	.	ENSG00000166025	ENST00000317829;ENST00000542840;ENST00000317837;ENST00000433060	.	.	.	5.13	5.13	0.70059	.	0.075924	0.53938	D	0.000046	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-20.6551	18.5608	0.91100	0.0:0.0:1.0:0.0	.	.	.	.	X	262;318;312;312	.	.	E	+	1	0	AMOTL1	94172938	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	9.625000	0.98406	2.395000	0.81488	0.555000	0.69702	GAG		0.602	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	NM_130847		48	54	1	0	1.41504e-22	1	2.01956e-22	48	54				
WHSC1	7468	broad.mit.edu	37	4	1902706	1902706	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:1902706G>T	ENST00000382895.3	+	4	756	c.325G>T	c.(325-327)Ggg>Tgg	p.G109W	WHSC1_ENST00000382891.5_Missense_Mutation_p.G109W|WHSC1_ENST00000420906.2_Missense_Mutation_p.G109W|WHSC1_ENST00000398261.1_Missense_Mutation_p.G109W|WHSC1_ENST00000508803.1_Missense_Mutation_p.G109W|WHSC1_ENST00000382892.2_Missense_Mutation_p.G109W|WHSC1_ENST00000514045.1_Missense_Mutation_p.G109W|WHSC1_ENST00000436793.1_Missense_Mutation_p.G109W|WHSC1_ENST00000503128.1_Missense_Mutation_p.G109W	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	109					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)		GAAAGGGATTGGGACACCCCC	0.463			T	IGH@	MM																																	ENST00000503128.1				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.(325-327)Ggg>Tgg		Wolf-Hirschhorn syndrome candidate 1							64.0	65.0	65.0					4																	1902706		2203	4300	6503	SO:0001583	missense	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.chr4:1902706G>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.325G>T	4.37:g.1902706G>T	ENSP00000372351:p.Gly109Trp					WHSC1_ENST00000508803.1_Missense_Mutation_p.G109W|WHSC1_ENST00000420906.2_Missense_Mutation_p.G109W|WHSC1_ENST00000382891.5_Missense_Mutation_p.G109W|WHSC1_ENST00000382892.2_Missense_Mutation_p.G109W|WHSC1_ENST00000382895.3_Missense_Mutation_p.G109W|WHSC1_ENST00000398261.1_Missense_Mutation_p.G109W|WHSC1_ENST00000436793.1_Missense_Mutation_p.G109W|WHSC1_ENST00000514045.1_Missense_Mutation_p.G109W	p.G109W			O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	2	532	+		all_epithelial(65;1.34e-05)	109					A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	37	c.325G>T	CCDS33940.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.740463	0.69304	.	.	ENSG00000109685	ENST00000508803;ENST00000514045;ENST00000515806;ENST00000382891;ENST00000382892;ENST00000436793;ENST00000420906;ENST00000382895;ENST00000503128;ENST00000509115;ENST00000398261	D;T;T;D;D;T;T;D;T;T;T	0.95205	-3.64;1.14;0.81;-3.64;-3.64;0.84;1.14;-3.64;1.13;1.16;1.13	5.59	4.72	0.59763	.	0.000000	0.56097	D	0.000030	D	0.96112	0.8733	L	0.50333	1.59	0.43250	D	0.995176	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.923;0.999;0.999	D	0.96454	0.9336	10	0.72032	D	0.01	.	15.5842	0.76470	0.0:0.0:0.8612:0.1388	.	109;109;109;109;109	O96028-3;O96028-7;O96028;O96028-5;O96028-6	.;.;NSD2_HUMAN;.;.	W	109	ENSP00000423972:G109W;ENSP00000421681:G109W;ENSP00000427434:G109W;ENSP00000372347:G109W;ENSP00000372348:G109W;ENSP00000416725:G109W;ENSP00000399251:G109W;ENSP00000372351:G109W;ENSP00000425761:G109W;ENSP00000422878:G109W;ENSP00000381311:G109W	ENSP00000308780:G109W	G	+	1	0	WHSC1	1872504	1.000000	0.71417	0.930000	0.37139	0.971000	0.66376	5.586000	0.67503	1.289000	0.44618	0.655000	0.94253	GGG		0.463	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		18	54	1	0	1.67942e-08	1	1.9932e-08	18	54				
GBA3	57733	broad.mit.edu	37	4	22729367	22729367	+	RNA	SNP	C	C	T	rs11544900		TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:22729367C>T	ENST00000503442.1	+	0	149				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.2_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GATAACTCAGCGGTCGTAATC	0.393																																						ENST00000503442.1																			0				breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33								glucosidase, beta, acid 3 (gene/pseudogene)							162.0	158.0	159.0					4																	22729367		2203	4300	6503			57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22729367C>T	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22729367C>T						GBA3_ENST00000511446.1_RNA|GBA3_ENST00000508166.1_RNA		NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN			0	149	+								Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	RNA	SNP	ENST00000503442.1	37																																																																																						0.393	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			46	136	0	0	0	1	0	46	136				
SLC9C1	285335	broad.mit.edu	37	3	111958692	111958692	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:111958692A>G	ENST00000305815.5	-	12	1693	c.1441T>C	c.(1441-1443)Tac>Cac	p.Y481H	SLC9C1_ENST00000487372.1_Missense_Mutation_p.Y433H	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	481					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										CTTACCATGTATGGGTTTTCA	0.308																																						ENST00000305815.5																			0											c.(1441-1443)Tac>Cac		solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1							95.0	89.0	91.0					3																	111958692		2202	4300	6502	SO:0001583	missense	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111958692A>G	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.1441T>C	3.37:g.111958692A>G	ENSP00000306627:p.Tyr481His					SLC9C1_ENST00000487372.1_Missense_Mutation_p.Y433H	p.Y481H	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN			12	1693	-			481					Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	c.1441T>C	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	A	14.22	2.469896	0.43839	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	D;T	0.81499	-1.5;-1.46	5.68	4.52	0.55395	.	0.108509	0.41938	D	0.000798	T	0.80974	0.4727	L	0.34521	1.04	0.28788	N	0.899482	D;D	0.76494	0.987;0.999	P;D	0.65233	0.878;0.933	T	0.73433	-0.3984	10	0.37606	T	0.19	-7.6097	8.5818	0.33632	0.9125:0.0:0.0875:0.0	.	433;481	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	H	481;433	ENSP00000306627:Y481H;ENSP00000420688:Y433H	ENSP00000306627:Y481H	Y	-	1	0	SLC9A10	113441382	1.000000	0.71417	0.792000	0.32020	0.387000	0.30353	4.647000	0.61418	0.968000	0.38212	0.418000	0.28097	TAC		0.308	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		11	33	0	0	0	1	0	11	33				
TEX11	56159	broad.mit.edu	37	X	70026595	70026595	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chrX:70026595G>T	ENST00000395889.2	-	10	852	c.697C>A	c.(697-699)Cag>Aag	p.Q233K	TEX11_ENST00000374333.2_Missense_Mutation_p.Q218K|TEX11_ENST00000344304.3_Missense_Mutation_p.Q233K	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	233					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					TTATTCTTCTGGGTTTCTACT	0.303																																						ENST00000395889.2																			0				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48						c.(697-699)Cag>Aag		testis expressed 11							36.0	31.0	32.0					X																	70026595		2186	4274	6460	SO:0001583	missense	56159						protein binding	g.chrX:70026595G>T	AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"""testis expressed sequence 11"""			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.697C>A	X.37:g.70026595G>T	ENSP00000379226:p.Gln233Lys					TEX11_ENST00000374333.2_Missense_Mutation_p.Q218K|TEX11_ENST00000344304.3_Missense_Mutation_p.Q233K	p.Q233K	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN			10	852	-	Renal(35;0.156)		233					A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	ENST00000395889.2	37	c.697C>A	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	G	1.777	-0.482994	0.04383	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000344304	T;T;T	0.63096	-0.02;-0.02;-0.02	4.07	-7.23	0.01480	Tetratricopeptide-like helical (1);	0.657375	0.15133	N	0.278722	T	0.28665	0.0710	N	0.08118	0	0.09310	N	1	B;B	0.19073	0.027;0.033	B;B	0.19391	0.014;0.025	T	0.20140	-1.0284	9	.	.	.	1.8121	4.9015	0.13777	0.4601:0.0:0.3077:0.2323	.	218;233	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	K	218;233;233	ENSP00000363453:Q218K;ENSP00000379226:Q233K;ENSP00000340995:Q233K	.	Q	-	1	0	TEX11	69943320	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.675000	0.01947	-1.883000	0.01120	0.466000	0.42574	CAG		0.303	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1			3	7	1	0	0.004672	1	0.00481067	3	7				
SYNE1	23345	broad.mit.edu	37	6	152551704	152551704	+	Missense_Mutation	SNP	T	T	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:152551704T>G	ENST00000367255.5	-	115	21774	c.21173A>C	c.(21172-21174)cAa>cCa	p.Q7058P	SYNE1_ENST00000341594.5_Missense_Mutation_p.Q6670P|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q6987P|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q7058P|SYNE1_ENST00000356820.4_Missense_Mutation_p.Q1582P|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q6987P	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7058					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CAGTGCATTTTGAACAGAAGC	0.383										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(21172-21174)cAa>cCa		spectrin repeat containing, nuclear envelope 1							257.0	217.0	230.0					6																	152551704		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152551704T>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.21173A>C	6.37:g.152551704T>G	ENSP00000356224:p.Gln7058Pro	HNSCC(10;0.0054)				SYNE1_ENST00000423061.1_Missense_Mutation_p.Q6987P|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q7058P|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q6987P|SYNE1_ENST00000356820.4_Missense_Mutation_p.Q1582P|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q6670P	p.Q7058P	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	115	21774	-		Ovarian(120;0.0955)	7058					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.21173A>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	22.9	4.349902	0.82132	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43	5.6	5.6	0.85130	.	0.111526	0.40302	N	0.001138	T	0.62974	0.2472	M	0.79475	2.455	0.58432	D	0.999999	P;P;D	0.54397	0.953;0.953;0.966	P;P;P	0.58210	0.835;0.835;0.831	T	0.69476	-0.5135	10	0.72032	D	0.01	.	15.7901	0.78350	0.0:0.0:0.0:1.0	.	7058;7058;6987	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	P	7058;6987;7058;6987;6670;1582	ENSP00000356224:Q7058P;ENSP00000396024:Q6987P;ENSP00000265368:Q7058P;ENSP00000390975:Q6987P;ENSP00000341887:Q6670P;ENSP00000349276:Q1582P	ENSP00000265368:Q7058P	Q	-	2	0	SYNE1	152593397	1.000000	0.71417	0.981000	0.43875	0.756000	0.42949	7.681000	0.84073	2.125000	0.65367	0.460000	0.39030	CAA		0.383	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		60	106	0	0	0	1	0	60	106				
KLF8	11279	broad.mit.edu	37	X	56310806	56310806	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chrX:56310806A>T	ENST00000468660.1	+	6	1247	c.959A>T	c.(958-960)gAg>gTg	p.E320V	KLF8_ENST00000374928.3_3'UTR	NM_007250.4	NP_009181.2	O95600	KLF8_HUMAN	Kruppel-like factor 8	320					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						CGCTCAGATGAGCTCACTCGC	0.498																																						ENST00000468660.1																			0				kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						c.(958-960)gAg>gTg		Kruppel-like factor 8							58.0	47.0	51.0					X																	56310806		2203	4300	6503	SO:0001583	missense	11279				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:56310806A>T	U28282	CCDS14373.1, CCDS55428.1	Xp11.21	2013-01-08			ENSG00000102349	ENSG00000102349		"""Zinc fingers, C2H2-type"", ""Kruppel-like transcription factors"""	6351	protein-coding gene	gene with protein product		300286					Standard	NM_007250		Approved	BKLF3, ZNF741, DXS741	uc004dur.3	O95600	OTTHUMG00000021666	ENST00000468660.1:c.959A>T	X.37:g.56310806A>T	ENSP00000417303:p.Glu320Val					KLF8_ENST00000374928.3_3'UTR	p.E320V	NM_007250.4	NP_009181.2	O95600	KLF8_HUMAN			6	1247	+			320					B4DJN3|E7EQQ8|L0R3U8|L0R4U2|Q2M246|Q59GV5|Q5HYQ5|Q5JXP7|Q6MZJ7|Q9UGC4	Missense_Mutation	SNP	ENST00000468660.1	37	c.959A>T	CCDS14373.1	.	.	.	.	.	.	.	.	.	.	A	16.68	3.190076	0.58017	.	.	ENSG00000102349	ENST00000468660	T	0.52526	0.66	3.93	3.93	0.45458	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.52058	0.1711	N	0.25031	0.7	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56312	-0.8000	10	0.87932	D	0	.	10.538	0.45016	1.0:0.0:0.0:0.0	.	320	O95600	KLF8_HUMAN	V	320	ENSP00000417303:E320V	ENSP00000417303:E320V	E	+	2	0	KLF8	56327531	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.556000	0.90697	1.557000	0.49525	0.483000	0.47432	GAG		0.498	KLF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056887.2	NM_007250		4	4	0	0	0	1	0	4	4				
MMP8	4317	broad.mit.edu	37	11	102593338	102593338	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr11:102593338T>C	ENST00000236826.3	-	2	267	c.169A>G	c.(169-171)Aat>Gat	p.N57D		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	57					collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	Marimastat(DB00786)	ACGATCACATTAGTGCCATTC	0.433																																						ENST00000236826.3																			0				autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32						c.(169-171)Aat>Gat		matrix metallopeptidase 8 (neutrophil collagenase)							157.0	154.0	155.0					11																	102593338		2203	4299	6502	SO:0001583	missense	4317				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding	g.chr11:102593338T>C	J05556	CCDS8320.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000118113	ENSG00000118113	3.4.24.34		7175	protein-coding gene	gene with protein product		120355	"""matrix metalloproteinase 8 (neutrophil collagenase)"""	CLG1			Standard	NM_002424		Approved		uc001phe.2	P22894	OTTHUMG00000167587	ENST00000236826.3:c.169A>G	11.37:g.102593338T>C	ENSP00000236826:p.Asn57Asp						p.N57D	NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	2	267	-	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	57					Q45F99	Missense_Mutation	SNP	ENST00000236826.3	37	c.169A>G	CCDS8320.1	.	.	.	.	.	.	.	.	.	.	T	13.35	2.212409	0.39102	.	.	ENSG00000118113	ENST00000236826;ENST00000544383	T	0.36878	1.23	5.92	-4.12	0.03916	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	1.315790	0.04741	N	0.422817	T	0.23410	0.0566	L	0.28400	0.85	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.16722	0.016;0.005	T	0.31668	-0.9935	10	0.46703	T	0.11	.	4.0537	0.09806	0.098:0.3581:0.101:0.443	.	57;57	A8K9E4;P22894	.;MMP8_HUMAN	D	57;34	ENSP00000236826:N57D	ENSP00000236826:N57D	N	-	1	0	MMP8	102098548	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.198000	0.09505	-0.354000	0.08212	0.533000	0.62120	AAT		0.433	MMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395223.1	NM_002424		24	63	0	0	0	1	0	24	63				
EPC2	26122	broad.mit.edu	37	2	149447814	149447814	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:149447814A>G	ENST00000258484.6	+	2	219	c.185A>G	c.(184-186)cAg>cGg	p.Q62R	EPC2_ENST00000409654.1_Missense_Mutation_p.Q62R	NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	62					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		ATTTCAGCACAGCAAGTGTTT	0.333																																						ENST00000258484.6																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						c.(184-186)cAg>cGg		enhancer of polycomb homolog 2 (Drosophila)							119.0	110.0	113.0					2																	149447814		1869	4101	5970	SO:0001583	missense	26122				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:149447814A>G	AF286904	CCDS46422.1	2q23	2008-02-05			ENSG00000135999	ENSG00000135999			24543	protein-coding gene	gene with protein product		611000					Standard	NM_015630		Approved	DKFZP566F2124	uc010zbt.2	Q52LR7	OTTHUMG00000153739	ENST00000258484.6:c.185A>G	2.37:g.149447814A>G	ENSP00000258484:p.Gln62Arg					EPC2_ENST00000409654.1_Missense_Mutation_p.Q62R	p.Q62R	NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0516)	2	219	+			62					B3KWT7|D3DP89|Q7L9J1|Q96RR7|Q9NUT8|Q9NVR1|Q9UFM9	Missense_Mutation	SNP	ENST00000258484.6	37	c.185A>G	CCDS46422.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.997351	0.74818	.	.	ENSG00000135999	ENST00000457184;ENST00000258484;ENST00000409654;ENST00000449013	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.57	5.57	0.84162	Enhancer of polycomb-like, N-terminal (1);	0.000000	0.64402	U	0.000009	T	0.41650	0.1168	L	0.39898	1.24	0.51233	D	0.999913	P	0.35208	0.49	B	0.42959	0.403	T	0.42258	-0.9462	10	0.72032	D	0.01	-1.779	10.9078	0.47090	0.8599:0.0:0.0:0.1401	.	62	Q52LR7	EPC2_HUMAN	R	38;62;62;11	ENSP00000415543:Q38R;ENSP00000258484:Q62R;ENSP00000387097:Q62R;ENSP00000395431:Q11R	ENSP00000258484:Q62R	Q	+	2	0	EPC2	149164284	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.103000	0.63969	0.482000	0.46254	CAG		0.333	EPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332278.1	NM_015630		23	54	0	0	0	1	0	23	54				
CATSPERD	257062	broad.mit.edu	37	19	5776299	5776299	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:5776299A>G	ENST00000381624.3	+	21	2130	c.2069A>G	c.(2068-2070)tAc>tGc	p.Y690C	CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	690					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											TATGTCTTCTACATTTCGATC	0.577																																						ENST00000381624.3																			0											c.(2068-2070)tAc>tGc		catsper channel auxiliary subunit delta							92.0	91.0	91.0					19																	5776299		1923	4130	6053	SO:0001583	missense	257062					integral to membrane		g.chr19:5776299A>G	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.2069A>G	19.37:g.5776299A>G	ENSP00000371037:p.Tyr690Cys					CATSPERD_ENST00000309164.7_3'UTR	p.Y690C	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN			21	2130	+			690					Q6ZRP1	Missense_Mutation	SNP	ENST00000381624.3	37	c.2069A>G	CCDS12149.2	.	.	.	.	.	.	.	.	.	.	A	13.38	2.220206	0.39201	.	.	ENSG00000174898	ENST00000381624;ENST00000381613;ENST00000448307	T	0.24350	1.86	3.97	-3.93	0.04143	.	2.521220	0.01580	N	0.021042	T	0.37652	0.1011	L	0.46157	1.445	0.09310	N	1	D	0.69078	0.997	P	0.57324	0.818	T	0.50767	-0.8789	10	0.44086	T	0.13	-0.1166	11.1517	0.48462	0.8095:0.0:0.0:0.1905	.	690	Q86XM0	TM146_HUMAN	C	690;359;59	ENSP00000371037:Y690C	ENSP00000371026:Y359C	Y	+	2	0	TMEM146	5727299	0.000000	0.05858	0.000000	0.03702	0.130000	0.20726	-3.012000	0.00647	-0.581000	0.05937	0.260000	0.18958	TAC		0.577	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		10	21	0	0	0	1	0	10	21				
YTHDC1	91746	broad.mit.edu	37	4	69184563	69184563	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:69184563G>A	ENST00000344157.4	-	13	2037	c.1702C>T	c.(1702-1704)Cga>Tga	p.R568*	YTHDC1_ENST00000355665.3_Nonsense_Mutation_p.R550*|YTHDC1_ENST00000579690.1_Nonsense_Mutation_p.R568*	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	568	Arg-rich.				mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						TCCTGGTATCGTGGATCCTTT	0.328																																						ENST00000344157.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(1702-1704)Cga>Tga		YTH domain containing 1							73.0	75.0	74.0					4																	69184563		2203	4300	6503	SO:0001587	stop_gained	91746							g.chr4:69184563G>A	AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.1702C>T	4.37:g.69184563G>A	ENSP00000339245:p.Arg568*					YTHDC1_ENST00000355665.3_Nonsense_Mutation_p.R550*|YTHDC1_ENST00000579690.1_Nonsense_Mutation_p.R568*	p.R568*	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN			13	2037	-			568			Arg-rich.		Q4W5Q3|Q7Z622|Q8TF35	Nonsense_Mutation	SNP	ENST00000344157.4	37	c.1702C>T	CCDS33992.1	.	.	.	.	.	.	.	.	.	.	G	42	9.465716	0.99178	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	.	.	.	5.64	5.64	0.86602	.	0.116625	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.4417	0.67323	0.0:0.0:0.8172:0.1828	.	.	.	.	X	568;550	.	ENSP00000339245:R568X	R	-	1	2	YTHDC1	68867158	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.557000	0.45871	2.662000	0.90505	0.655000	0.94253	CGA		0.328	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	NM_133370		8	92	0	0	0	1	0	8	92				
BEST2	54831	broad.mit.edu	37	19	12867030	12867030	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:12867030G>A	ENST00000549706.1	+	9	1348	c.1024G>A	c.(1024-1026)Gag>Aag	p.E342K	BEST2_ENST00000553030.1_Missense_Mutation_p.E342K|BEST2_ENST00000042931.1_Missense_Mutation_p.E342K			Q8NFU1	BEST2_HUMAN	bestrophin 2	342					chloride transmembrane transport (GO:1902476)|membrane depolarization (GO:0051899)|sensory perception of smell (GO:0007608)	chloride channel complex (GO:0034707)|cilium (GO:0005929)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						GGATGCAGCCGAGGCTCGCGC	0.592																																						ENST00000549706.1																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						c.(1024-1026)Gag>Aag		bestrophin 2							136.0	143.0	141.0					19																	12867030		2132	4246	6378	SO:0001583	missense	54831				membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity	g.chr19:12867030G>A	AF440756	CCDS42506.1	19p13.13	2014-08-12	2006-10-18	2006-10-18	ENSG00000039987	ENSG00000039987		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17107	protein-coding gene	gene with protein product		607335	"""vitelliform macular dystrophy 2-like 1"""	VMD2L1		12032738, 16912113	Standard	NM_017682		Approved	FLJ20132	uc002mux.3	Q8NFU1	OTTHUMG00000169293	ENST00000549706.1:c.1024G>A	19.37:g.12867030G>A	ENSP00000448310:p.Glu342Lys					BEST2_ENST00000042931.1_Missense_Mutation_p.E342K|BEST2_ENST00000553030.1_Missense_Mutation_p.E342K	p.E342K			Q8NFU1	BEST2_HUMAN			9	1348	+			342					Q53YQ8|Q9NXP0	Missense_Mutation	SNP	ENST00000549706.1	37	c.1024G>A	CCDS42506.1	.	.	.	.	.	.	.	.	.	.	G	4.590	0.109559	0.08780	.	.	ENSG00000039987	ENST00000549706;ENST00000553030;ENST00000042931	D;D;D	0.97870	-4.58;-4.58;-4.58	4.03	4.03	0.46877	.	0.147560	0.43110	D	0.000607	D	0.94225	0.8146	L	0.49126	1.545	0.37602	D	0.920613	B	0.29432	0.244	B	0.26310	0.068	D	0.91505	0.5222	10	0.08599	T	0.76	-21.8279	9.5666	0.39402	0.1045:0.0:0.8955:0.0	.	342	Q8NFU1	BEST2_HUMAN	K	342	ENSP00000448310:E342K;ENSP00000447203:E342K;ENSP00000042931:E342K	ENSP00000042931:E342K	E	+	1	0	BEST2	12728030	0.979000	0.34478	0.753000	0.31225	0.017000	0.09413	2.959000	0.49153	2.086000	0.62901	0.491000	0.48974	GAG		0.592	BEST2-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403343.1	NM_017682		24	117	0	0	0	1	0	24	117				
LOC100505782	100505782	broad.mit.edu	37	17	39565022	39565022	+	RNA	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr17:39565022G>A	ENST00000432258.1	+	0	436				AC003958.2_ENST00000430006.1_RNA																							AGCTGTTGCAGCGAGCGCTCT	0.602																																						ENST00000432258.1																			0																																																			100505782							g.chr17:39565022G>A																													17.37:g.39565022G>A						AC003958.2_ENST00000430006.1_RNA								0	436	+									RNA	SNP	ENST00000432258.1	37																																																																																						0.602	AC003958.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000257900.2			4	6	0	0	0	1	0	4	6				
IPO4	79711	broad.mit.edu	37	14	24652822	24652822	+	Silent	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr14:24652822G>A	ENST00000354464.6	-	20	2213	c.2037C>T	c.(2035-2037)gcC>gcT	p.A679A	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	679					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		TCTCCCCCACGGCAGCACAGG	0.577																																						ENST00000354464.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33						c.(2035-2037)gcC>gcT		importin 4							97.0	108.0	104.0					14																	24652822		2075	4221	6296	SO:0001819	synonymous_variant	79711				intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr14:24652822G>A	AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.2037C>T	14.37:g.24652822G>A						RP11-468E2.2_ENST00000561419.1_3'UTR	p.A679A	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN		GBM - Glioblastoma multiforme(265;0.0087)	20	2213	-			679					B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Silent	SNP	ENST00000354464.6	37	c.2037C>T	CCDS9616.1																																																																																				0.577	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4	NM_024658		5	25	0	0	0	1	0	5	25				
IGKV3D-20	28874	broad.mit.edu	37	2	90078011	90078011	+	RNA	SNP	A	A	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:90078011A>G	ENST00000390270.2	+	0	146									immunoglobulin kappa variable 3D-20																		TTCCAATCTCAGATACCACCG	0.448																																						ENST00000390270.2																			0																				86.0	85.0	86.0					2																	90078011		1851	4097	5948			28874							g.chr2:90078011A>G	X12687		2p11.2	2012-02-08			ENSG00000211625	ENSG00000211625		"""Immunoglobulins / IGK locus"""	5825	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151615		2.37:g.90078011A>G														0	146	+									RNA	SNP	ENST00000390270.2	37																																																																																						0.448	IGKV3D-20-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323287.1	NG_000833		22	70	0	0	0	1	0	22	70				
CROCCP2	84809	broad.mit.edu	37	1	16945409	16945409	+	lincRNA	SNP	T	T	A	rs13566	byFrequency	TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:16945409T>A	ENST00000412962.1	-	0	2110				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											GCGGGATAGCTCGGTGGAGAG	0.612													.|||	1533	0.30611	0.2254	0.3473	5008	,	,		64331	0.2113		0.3767	False		,,,				2504	0.411					ENST00000412962.1																			0																																																			84809							g.chr1:16945409T>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16945409T>A														0	2110	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.612	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		4	46	0	0	0	1	0	4	46				
RYR2	6262	broad.mit.edu	37	1	237923109	237923109	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:237923109G>T	ENST00000366574.2	+	83	11676	c.11359G>T	c.(11359-11361)Gtg>Ttg	p.V3787L	RYR2_ENST00000542537.1_Missense_Mutation_p.V3771L|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.V3793L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3787					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)			GAAAAAGGATGTGGGCTTCTT	0.413																																						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.(11359-11361)Gtg>Ttg		ryanodine receptor 2 (cardiac)							117.0	114.0	115.0					1																	237923109		1855	4091	5946	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.chr1:237923109G>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.11359G>T	1.37:g.237923109G>T	ENSP00000355533:p.Val3787Leu					RYR2_ENST00000360064.6_Missense_Mutation_p.V3793L|RYR2_ENST00000542537.1_Missense_Mutation_p.V3771L	p.V3787L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		83	11676	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3787					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.11359G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.399021	0.83120	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.89875	-2.58;-2.58;-2.58	5.81	5.81	0.92471	.	0.000000	0.53938	U	0.000042	D	0.89581	0.6756	M	0.71036	2.16	0.80722	D	1	B;B	0.14805	0.011;0.005	B;B	0.14023	0.01;0.005	D	0.85462	0.1167	10	0.72032	D	0.01	-18.8655	20.0755	0.97742	0.0:0.0:1.0:0.0	.	761;3787	B4DGV4;Q92736	.;RYR2_HUMAN	L	3787;3793;3771;761	ENSP00000355533:V3787L;ENSP00000353174:V3793L;ENSP00000443798:V3771L	ENSP00000353174:V3793L	V	+	1	0	RYR2	235989732	1.000000	0.71417	0.990000	0.47175	0.994000	0.84299	9.805000	0.99149	2.749000	0.94314	0.460000	0.39030	GTG		0.413	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		17	70	1	0	9.16793e-09	1	1.09675e-08	17	70				
SSTR1	6751	broad.mit.edu	37	14	38678848	38678848	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr14:38678848G>T	ENST00000267377.2	+	3	871	c.254G>T	c.(253-255)cGc>cTc	p.R85L		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	85					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glutamate receptor signaling pathway (GO:0007215)|negative regulation of cell proliferation (GO:0008285)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)|Pasireotide(DB06663)	GTGATCCTGCGCTATGCCAAG	0.562																																						ENST00000267377.2																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(253-255)cGc>cTc		somatostatin receptor 1	Octreotide(DB00104)						182.0	163.0	169.0					14																	38678848		2203	4300	6503	SO:0001583	missense	6751				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity	g.chr14:38678848G>T		CCDS9666.1	14q13	2012-08-08			ENSG00000139874	ENSG00000139874		"""GPCR / Class A : Somatostatin receptors"""	11330	protein-coding gene	gene with protein product		182451				8449518	Standard	NM_001049		Approved		uc001wul.1	P30872	OTTHUMG00000140249	ENST00000267377.2:c.254G>T	14.37:g.38678848G>T	ENSP00000267377:p.Arg85Leu						p.R85L	NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	3	871	+	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		85						Missense_Mutation	SNP	ENST00000267377.2	37	c.254G>T	CCDS9666.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637571	0.67130	.	.	ENSG00000139874	ENST00000267377	T	0.39229	1.09	4.58	4.58	0.56647	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000052	T	0.64494	0.2603	M	0.73962	2.25	0.49299	D	0.999778	D	0.64830	0.994	D	0.70016	0.967	T	0.69734	-0.5065	10	0.87932	D	0	.	16.5391	0.84380	0.0:0.0:1.0:0.0	.	85	P30872	SSR1_HUMAN	L	85	ENSP00000267377:R85L	ENSP00000267377:R85L	R	+	2	0	SSTR1	37748599	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.170000	0.64990	2.387000	0.81309	0.655000	0.94253	CGC		0.562	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409930.2			27	58	1	0	4.22769e-11	1	5.37096e-11	27	58				
BCAS1	8537	broad.mit.edu	37	20	52612559	52612559	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr20:52612559G>T	ENST00000395961.3	-	5	920	c.754C>A	c.(754-756)Caa>Aaa	p.Q252K	BCAS1_ENST00000371435.2_Missense_Mutation_p.Q252K|BCAS1_ENST00000371440.3_Missense_Mutation_p.Q252K|BCAS1_ENST00000434986.2_5'UTR	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	252						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CCAAGTTCTTGTCCTTCTTTT	0.473																																						ENST00000395961.3																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37						c.(754-756)Caa>Aaa		breast carcinoma amplified sequence 1							144.0	116.0	125.0					20																	52612559		2203	4300	6503	SO:0001583	missense	8537					cytoplasm	protein binding	g.chr20:52612559G>T	AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.754C>A	20.37:g.52612559G>T	ENSP00000379290:p.Gln252Lys					BCAS1_ENST00000371440.3_Missense_Mutation_p.Q252K|BCAS1_ENST00000371435.2_Missense_Mutation_p.Q252K|BCAS1_ENST00000434986.2_5'UTR	p.Q252K	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)		5	920	-	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		252					A0AVG5|Q68CZ3	Missense_Mutation	SNP	ENST00000395961.3	37	c.754C>A	CCDS13444.1	.	.	.	.	.	.	.	.	.	.	G	9.930	1.214488	0.22289	.	.	ENSG00000064787	ENST00000448484;ENST00000371440;ENST00000448710;ENST00000395961;ENST00000371435	T;T;T;T	0.09073	3.02;3.02;3.02;3.02	5.9	3.91	0.45181	.	0.515524	0.19510	N	0.112529	T	0.17831	0.0428	M	0.65498	2.005	0.21290	N	0.99973	B;B;D;P;P	0.53151	0.4;0.4;0.958;0.644;0.644	B;B;P;B;B	0.51487	0.121;0.121;0.671;0.287;0.287	T	0.05053	-1.0909	10	0.35671	T	0.21	-0.0015	13.8456	0.63466	0.0:0.3186:0.6814:0.0	.	252;252;252;252;252	B2RCQ5;O75363-2;G3XAF7;A0AVG7;O75363	.;.;.;.;BCAS1_HUMAN	K	114;252;130;252;252	ENSP00000396361:Q114K;ENSP00000360495:Q252K;ENSP00000379290:Q252K;ENSP00000360490:Q252K	ENSP00000360490:Q252K	Q	-	1	0	BCAS1	52045966	0.088000	0.21588	0.023000	0.16930	0.082000	0.17680	2.118000	0.41949	0.786000	0.33708	0.563000	0.77884	CAA		0.473	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657		23	48	1	0	5.35356e-11	1	6.76318e-11	23	48				
NRK	203447	broad.mit.edu	37	X	105168850	105168850	+	Missense_Mutation	SNP	G	G	T	rs368671831		TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chrX:105168850G>T	ENST00000243300.9	+	19	3442	c.3139G>T	c.(3139-3141)Gca>Tca	p.A1047S	NRK_ENST00000428173.2_Missense_Mutation_p.A1048S	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1047					activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GGAAGAACATGCAGCCAATAT	0.517										HNSCC(51;0.14)																												ENST00000428173.2																			0				breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						c.(3142-3144)Gca>Tca		Nik related kinase		G	SER/ALA	1,3639		0,1,1534,570	112.0	107.0	109.0		3139	0.2	0.0	X		109	0,6587		0,0,2389,1809	no	missense	NRK	NM_198465.2	99	0,1,3923,2379	TT,TG,GG,G		0.0,0.0275,0.0098	benign	1047/1583	105168850	1,10226	2105	4198	6303	SO:0001583	missense	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105168850G>T	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.3139G>T	X.37:g.105168850G>T	ENSP00000434830:p.Ala1047Ser	HNSCC(51;0.14)				NRK_ENST00000243300.9_Missense_Mutation_p.A1047S	p.A1048S			Q7Z2Y5	NRK_HUMAN			19	3445	+			1047					Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37	c.3142G>T		.	.	.	.	.	.	.	.	.	.	G	9.663	1.144730	0.21288	2.75E-4	0.0	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.76448	-1.0;-1.02	3.4	0.214	0.15249	.	1.606280	0.03860	N	0.273812	T	0.58652	0.2137	N	0.14661	0.345	0.09310	N	1	B;B	0.14012	0.009;0.002	B;B	0.14023	0.01;0.003	T	0.42515	-0.9447	10	0.09590	T	0.72	.	5.574	0.17212	0.482:0.0:0.518:0.0	.	715;1047	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	S	1047;1048	ENSP00000434830:A1047S;ENSP00000438378:A1048S	ENSP00000434830:A1047S	A	+	1	0	NRK	105055506	0.008000	0.16893	0.000000	0.03702	0.013000	0.08279	0.470000	0.22084	-0.071000	0.12886	-0.191000	0.12829	GCA		0.517	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		15	16	1	0	3.27435e-08	1	3.83567e-08	15	16				
DZIP1	22873	broad.mit.edu	37	13	96237044	96237044	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr13:96237044C>T	ENST00000376829.2	-	22	3321	c.2470G>A	c.(2470-2472)Gct>Act	p.A824T	DZIP1_ENST00000361396.2_Missense_Mutation_p.A805T|DZIP1_ENST00000361156.3_Missense_Mutation_p.A805T|DZIP1_ENST00000347108.3_Missense_Mutation_p.A824T	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	824					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			AGCACATGAGCAAAATGTGGT	0.438																																						ENST00000347108.3																			0				endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38						c.(2470-2472)Gct>Act		DAZ interacting zinc finger protein 1							122.0	120.0	121.0					13																	96237044		2203	4300	6503	SO:0001583	missense	22873				germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr13:96237044C>T	AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"""Zinc fingers, C2H2-type"""	20908	protein-coding gene	gene with protein product		608671	"""DAZ interacting protein 1"""				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.2470G>A	13.37:g.96237044C>T	ENSP00000366025:p.Ala824Thr					DZIP1_ENST00000376829.2_Missense_Mutation_p.A824T|DZIP1_ENST00000361156.3_Missense_Mutation_p.A805T|DZIP1_ENST00000361396.2_Missense_Mutation_p.A805T	p.A824T			Q86YF9	DZIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.141)		20	2902	-	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		824					Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Missense_Mutation	SNP	ENST00000376829.2	37	c.2470G>A	CCDS9478.1	.	.	.	.	.	.	.	.	.	.	C	0.999	-0.691590	0.03303	.	.	ENSG00000134874	ENST00000347108;ENST00000361156;ENST00000361396;ENST00000376829	T;T;T;T	0.08282	3.11;3.12;3.12;3.11	5.38	-3.57	0.04612	.	1.199610	0.05970	N	0.642247	T	0.02193	0.0068	N	0.02225	-0.63	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.40572	-0.9556	10	0.02654	T	1	2.8012	2.3827	0.04358	0.1079:0.2769:0.3316:0.2836	.	805;824	Q86YF9-2;Q86YF9	.;DZIP1_HUMAN	T	824;805;805;824	ENSP00000257312:A824T;ENSP00000355018:A805T;ENSP00000355175:A805T;ENSP00000366025:A824T	ENSP00000257312:A824T	A	-	1	0	DZIP1	95035045	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.390000	0.02528	-0.476000	0.06842	-1.447000	0.01057	GCT		0.438	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	NM_014934		18	34	0	0	0	1	0	18	34				
LTA	4049	broad.mit.edu	37	6	31540554	31540554	+	Missense_Mutation	SNP	T	T	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:31540554T>G	ENST00000454783.1	+	2	293	c.35T>G	c.(34-36)gTg>gGg	p.V12G	LTA_ENST00000418386.2_Missense_Mutation_p.V12G|TNF_ENST00000449264.2_5'Flank	NM_001159740.2	NP_001153212.1	P01374	TNFB_HUMAN	lymphotoxin alpha	12					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|defense response to Gram-positive bacterium (GO:0050830)|humoral immune response (GO:0006959)|lymph node development (GO:0048535)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of growth of symbiont in host (GO:0044130)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response to antigenic stimulus (GO:0002876)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of interferon-gamma production (GO:0032729)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|membrane (GO:0016020)	receptor binding (GO:0005102)			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	CTCCCAAGGGTGTGTGGCACC	0.647																																						ENST00000454783.1																			0				endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9						c.(34-36)gTg>gGg		lymphotoxin alpha	Etanercept(DB00005)						92.0	92.0	92.0					6																	31540554		1510	2709	4219	SO:0001583	missense	4049				cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr6:31540554T>G	X01393	CCDS4701.1	6p21.3	2013-05-22	2013-05-22		ENSG00000226979	ENSG00000226979		"""Tumor necrosis factor (ligand) superfamily"""	6709	protein-coding gene	gene with protein product	"""TNF superfamily member 1"""	153440	"""lymphotoxin alpha (TNF superfamily, member 1)"""	TNFB		2995927, 3001529	Standard	NM_001159740		Approved	TNFSF1, LT	uc011dnu.2	P01374	OTTHUMG00000031135	ENST00000454783.1:c.35T>G	6.37:g.31540554T>G	ENSP00000403495:p.Val12Gly					LTA_ENST00000418386.2_Missense_Mutation_p.V12G	p.V12G	NM_001159740.2	NP_001153212.1	P01374	TNFB_HUMAN			2	293	+			12					Q8N4C3|Q9UKS8	Missense_Mutation	SNP	ENST00000454783.1	37	c.35T>G	CCDS4701.1	.	.	.	.	.	.	.	.	.	.	T	11.52	1.662821	0.29515	.	.	ENSG00000226979	ENST00000454783;ENST00000418386;ENST00000436827	T;T	0.20200	2.09;2.09	4.32	0.36	0.16097	.	0.573013	0.16865	N	0.196364	T	0.07863	0.0197	L	0.57536	1.79	0.44728	D	0.997724	B	0.12013	0.005	B	0.08055	0.003	T	0.08953	-1.0697	10	0.87932	D	0	-14.8472	4.2083	0.10498	0.0:0.1225:0.4319:0.4456	.	12	P01374	TNFB_HUMAN	G	12	ENSP00000403495:V12G;ENSP00000413450:V12G	ENSP00000413450:V12G	V	+	2	0	LTA	31648533	0.489000	0.26004	0.436000	0.26797	0.423000	0.31445	0.137000	0.15995	0.184000	0.20083	0.533000	0.62120	GTG		0.647	LTA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259097.1			16	51	0	0	0	1	0	16	51				
ROS1	6098	broad.mit.edu	37	6	117629982	117629982	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:117629982G>A	ENST00000368508.3	-	41	6742	c.6544C>T	c.(6544-6546)Cca>Tca	p.P2182S	ROS1_ENST00000368507.3_Missense_Mutation_p.P2176S	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	2182	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TTTCTTGGTGGCTCCAGTCTC	0.383			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""		"""glioblastoma, NSCLC"""	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.(6544-6546)Cca>Tca		c-ros oncogene 1 , receptor tyrosine kinase							91.0	85.0	87.0					6																	117629982		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117629982G>A	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.6544C>T	6.37:g.117629982G>A	ENSP00000357494:p.Pro2182Ser					ROS1_ENST00000368507.3_Missense_Mutation_p.P2176S	p.P2182S	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	41	6742	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	2182			Protein kinase.		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.6544C>T	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.939289	0.34189	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.81996	-1.56;-1.56	5.05	4.11	0.48088	.	0.336851	0.25651	N	0.029203	T	0.53126	0.1777	L	0.28054	0.825	0.30523	N	0.768253	B	0.30326	0.276	B	0.29267	0.1	T	0.44952	-0.9294	10	0.38643	T	0.18	.	3.9	0.09157	0.1767:0.0:0.6127:0.2106	.	2182	P08922	ROS1_HUMAN	S	2182;2176	ENSP00000357494:P2182S;ENSP00000357493:P2176S	ENSP00000357493:P2176S	P	-	1	0	ROS1	117736675	0.007000	0.16637	1.000000	0.80357	0.996000	0.88848	0.827000	0.27421	2.492000	0.84095	0.650000	0.86243	CCA		0.383	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			15	48	0	0	0	1	0	15	48				
HPS4	89781	broad.mit.edu	37	22	26873050	26873050	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr22:26873050C>A	ENST00000398145.2	-	4	801	c.185G>T	c.(184-186)cGc>cTc	p.R62L	HPS4_ENST00000336873.5_Missense_Mutation_p.R62L|HPS4_ENST00000398141.1_Missense_Mutation_p.R57L|HPS4_ENST00000402105.3_Missense_Mutation_p.R57L	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	62					blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827)	protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						AGAAACACAGCGGACAACTCC	0.443									Hermansky-Pudlak syndrome																													ENST00000398145.2																			0				breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(184-186)cGc>cTc		Hermansky-Pudlak syndrome 4							95.0	87.0	90.0					22																	26873050		2203	4300	6503	SO:0001583	missense	89781	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity	g.chr22:26873050C>A		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.185G>T	22.37:g.26873050C>A	ENSP00000381213:p.Arg62Leu					HPS4_ENST00000398141.1_Missense_Mutation_p.R57L|HPS4_ENST00000402105.3_Missense_Mutation_p.R57L|HPS4_ENST00000336873.5_Missense_Mutation_p.R62L	p.R62L	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN			4	801	-			62					B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Missense_Mutation	SNP	ENST00000398145.2	37	c.185G>T	CCDS13835.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.359419	0.61403	.	.	ENSG00000100099	ENST00000398145;ENST00000398141;ENST00000402105;ENST00000336873;ENST00000312736;ENST00000422379	D;D;D;D;D	0.91068	-2.78;-2.78;-2.78;-2.78;-2.78	5.43	-0.491	0.12045	.	0.310438	0.36167	N	0.002760	D	0.90140	0.6919	L	0.54323	1.7	0.50813	D	0.999892	D;P;P;P	0.58970	0.984;0.841;0.946;0.946	P;P;P;P	0.53518	0.728;0.653;0.534;0.534	D	0.88180	0.2870	10	0.59425	D	0.04	-12.8201	11.5221	0.50558	0.0:0.6306:0.0:0.3694	.	62;57;62;57	Q6ICH6;E5RG08;Q9NQG7;Q9NQG7-3	.;.;HPS4_HUMAN;.	L	62;57;57;62;62;62	ENSP00000381213:R62L;ENSP00000381210:R57L;ENSP00000384185:R57L;ENSP00000338457:R62L;ENSP00000415081:R62L	ENSP00000325840:R62L	R	-	2	0	HPS4	25203050	0.956000	0.32656	0.969000	0.41365	0.445000	0.32107	0.007000	0.13174	0.027000	0.15297	-0.140000	0.14226	CGC		0.443	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320778.1	NM_022081		10	40	1	0	1.58986e-06	1	1.77044e-06	10	40				
NUF2	83540	broad.mit.edu	37	1	163317627	163317627	+	Silent	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:163317627C>T	ENST00000271452.3	+	12	1302	c.1023C>T	c.(1021-1023)ttC>ttT	p.F341F	NUF2_ENST00000367900.3_Silent_p.F341F|NUF2_ENST00000524800.1_Silent_p.F294F	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	341	Interaction with the N-terminus of NDC80.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					AAAATTCGTTCAAAAGACTGA	0.338																																						ENST00000271452.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1021-1023)ttC>ttT		NUF2, NDC80 kinetochore complex component							83.0	84.0	83.0					1																	163317627		2203	4300	6503	SO:0001819	synonymous_variant	83540				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding	g.chr1:163317627C>T	BG354574	CCDS1245.1	1q23.3	2013-07-03	2013-07-03	2006-11-07	ENSG00000143228	ENSG00000143228			14621	protein-coding gene	gene with protein product	"""cancer/testis antigen 106"""	611772	"""cell division cycle associated 1"", ""NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)"""	CDCA1		11266451, 11685532	Standard	NM_031423		Approved	NUF2R, CT106	uc001gcr.1	Q9BZD4	OTTHUMG00000034275	ENST00000271452.3:c.1023C>T	1.37:g.163317627C>T						NUF2_ENST00000367900.3_Silent_p.F341F|NUF2_ENST00000524800.1_Silent_p.F294F	p.F341F	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN			12	1302	+	all_hematologic(923;0.101)		341			Interaction with the N-terminus of NDC80.		Q8WU69|Q96HJ4|Q96Q78	Silent	SNP	ENST00000271452.3	37	c.1023C>T	CCDS1245.1																																																																																				0.338	NUF2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000082812.1	NM_145697		10	39	0	0	0	1	0	10	39				
IGKV3D-11	28876	broad.mit.edu	37	2	90212015	90212015	+	RNA	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:90212015G>T	ENST00000390277.2	+	0	204									immunoglobulin kappa variable 3D-11																		TTGTCTCCAGGGGAAAGAGCC	0.502																																						ENST00000390277.2																			0																				33.0	47.0	43.0					2																	90212015		1796	4059	5855			28876							g.chr2:90212015G>T	X17264		2p11.2	2012-02-08			ENSG00000211632	ENSG00000211632		"""Immunoglobulins / IGK locus"""	5823	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151563		2.37:g.90212015G>T														0	204	+									RNA	SNP	ENST00000390277.2	37																																																																																						0.502	IGKV3D-11-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323138.2	NG_000833		25	79	1	0	4.26978e-12	1	5.56552e-12	25	79				
ANKRD50	57182	broad.mit.edu	37	4	125593009	125593009	+	Missense_Mutation	SNP	T	T	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:125593009T>G	ENST00000504087.1	-	4	2460	c.1423A>C	c.(1423-1425)Atg>Ctg	p.M475L	ANKRD50_ENST00000515641.1_Missense_Mutation_p.M296L	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	475										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TTCCATATCATCCACAGAGCT	0.413																																						ENST00000504087.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						c.(1423-1425)Atg>Ctg		ankyrin repeat domain 50							106.0	106.0	106.0					4																	125593009		2203	4300	6503	SO:0001583	missense	57182							g.chr4:125593009T>G	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.1423A>C	4.37:g.125593009T>G	ENSP00000425658:p.Met475Leu					ANKRD50_ENST00000515641.1_Missense_Mutation_p.M296L	p.M475L	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN			4	2460	-			475					A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	c.1423A>C	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	T	4.309	0.056702	0.08291	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.64991	-0.13;-0.08	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.30823	0.0777	N	0.01284	-0.91	0.58432	D	0.999995	B	0.13594	0.008	B	0.12156	0.007	T	0.41378	-0.9512	10	0.02654	T	1	.	15.5649	0.76284	0.0:0.0:0.0:1.0	.	475	Q9ULJ7	ANR50_HUMAN	L	475;296	ENSP00000425658:M475L;ENSP00000425355:M296L	ENSP00000425658:M475L	M	-	1	0	ANKRD50	125812459	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.365000	0.79537	2.266000	0.75297	0.454000	0.30748	ATG		0.413	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		30	111	0	0	0	1	0	30	111				
NAT1	9	broad.mit.edu	37	8	18079810	18079810	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr8:18079810A>T	ENST00000517492.1	+	3	892	c.254A>T	c.(253-255)gAg>gTg	p.E85V	NAT1_ENST00000541942.1_Missense_Mutation_p.E85V|NAT1_ENST00000520546.1_Missense_Mutation_p.E85V|NAT1_ENST00000518029.1_Missense_Mutation_p.E85V|NAT1_ENST00000535084.1_Missense_Mutation_p.E85V|NAT1_ENST00000307719.4_Missense_Mutation_p.E85V|NAT1_ENST00000539092.1_Missense_Mutation_p.E85V|NAT1_ENST00000517441.1_3'UTR|NAT1_ENST00000545197.1_Missense_Mutation_p.E147V			Q8IZM9	S38A6_HUMAN	N-acetyltransferase 1 (arylamine N-acetyltransferase)	0					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1)	9				Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208)		ATTGGTTTTGAGACCACGATG	0.473																																						ENST00000539092.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1)	9						c.(253-255)gAg>gTg		N-acetyltransferase 1 (arylamine N-acetyltransferase)							183.0	165.0	171.0					8																	18079810		2203	4300	6503	SO:0001583	missense	9				xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity	g.chr8:18079810A>T	BC047666	CCDS6007.1, CCDS55205.1	8p22	2012-01-18			ENSG00000171428	ENSG00000171428	2.3.1.5		7645	protein-coding gene	gene with protein product		108345		AAC1		7773298	Standard	NM_001160174		Approved		uc003wyt.3	P18440	OTTHUMG00000097001	ENST00000517492.1:c.254A>T	8.37:g.18079810A>T	ENSP00000429407:p.Glu85Val					NAT1_ENST00000517441.1_3'UTR|NAT1_ENST00000535084.1_Missense_Mutation_p.E85V|NAT1_ENST00000520546.1_Missense_Mutation_p.E85V|NAT1_ENST00000518029.1_Missense_Mutation_p.E85V|NAT1_ENST00000307719.4_Missense_Mutation_p.E85V|NAT1_ENST00000541942.1_Missense_Mutation_p.E85V|NAT1_ENST00000545197.1_Missense_Mutation_p.E147V|NAT1_ENST00000517492.1_Missense_Mutation_p.E85V	p.E85V	NM_001160170.1|NM_001160172.1	NP_001153642.1|NP_001153644.1	P18440	ARY1_HUMAN		Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208)	5	945	+			85					C9JWA6|Q86SY5	Missense_Mutation	SNP	ENST00000517492.1	37	c.254A>T	CCDS6007.1	.	.	.	.	.	.	.	.	.	.	.	12.33	1.905280	0.33628	.	.	ENSG00000171428	ENST00000535084;ENST00000307719;ENST00000545197;ENST00000539092;ENST00000541942;ENST00000518029;ENST00000517492;ENST00000520546	T;T;T;T;T;T;T;T	0.01947	4.54;4.54;4.54;4.54;4.54;4.54;4.54;4.54	4.37	4.37	0.52481	.	0.322147	0.33110	N	0.005280	T	0.09379	0.0231	M	0.90483	3.12	0.37597	D	0.920426	B;P	0.45011	0.328;0.848	B;P	0.49683	0.17;0.619	T	0.01195	-1.1422	10	0.66056	D	0.02	.	10.2415	0.43314	1.0:0.0:0.0:0.0	.	147;85	F5H5R8;P18440	.;ARY1_HUMAN	V	85;85;147;85;85;85;85;85	ENSP00000444609:E85V;ENSP00000307218:E85V;ENSP00000443194:E147V;ENSP00000440434:E85V;ENSP00000440900:E85V;ENSP00000428270:E85V;ENSP00000429407:E85V;ENSP00000429341:E85V	ENSP00000307218:E85V	E	+	2	0	NAT1	18124090	0.386000	0.25180	0.966000	0.40874	0.123000	0.20343	4.630000	0.61297	1.746000	0.51805	0.377000	0.23210	GAG		0.473	NAT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374828.1	NM_000662		46	76	0	0	0	1	0	46	76				
NACC1	112939	broad.mit.edu	37	19	13247186	13247186	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:13247186G>T	ENST00000292431.4	+	3	1213	c.1087G>T	c.(1087-1089)Ggc>Tgc	p.G363C		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	363					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear body (GO:0016604)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						CTACGACGAGGGCGACCCCTC	0.652																																						ENST00000292431.4																			0				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						c.(1087-1089)Ggc>Tgc		nucleus accumbens associated 1, BEN and BTB (POZ) domain containing							58.0	57.0	57.0					19																	13247186		2203	4300	6503	SO:0001583	missense	112939				negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body		g.chr19:13247186G>T	AF395817	CCDS12294.1	19p13.13	2013-01-09	2008-10-03	2008-10-03		ENSG00000160877		"""BEN domain containing"", ""BTB/POZ domain containing"""	20967	protein-coding gene	gene with protein product	"""nucleus accumbens associated 1"", ""BEN domain containing 8"""	610672	"""BTB (POZ) domain containing 14B"""	BTBD14B		12477932	Standard	NM_052876		Approved	NAC1, NAC-1, BEND8, BTBD30	uc002mwm.4	Q96RE7		ENST00000292431.4:c.1087G>T	19.37:g.13247186G>T	ENSP00000292431:p.Gly363Cys						p.G363C	NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN			3	1213	+			363						Missense_Mutation	SNP	ENST00000292431.4	37	c.1087G>T	CCDS12294.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.878090	0.72294	.	.	ENSG00000160877	ENST00000292431	T	0.62639	0.01	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.71005	0.3289	L	0.36672	1.1	0.53005	D	0.99996	D	0.89917	1.0	D	0.97110	1.0	T	0.74808	-0.3539	10	0.87932	D	0	.	15.0403	0.71785	0.0:0.0:1.0:0.0	.	363	Q96RE7	NACC1_HUMAN	C	363	ENSP00000292431:G363C	ENSP00000292431:G363C	G	+	1	0	NACC1	13108186	1.000000	0.71417	0.993000	0.49108	0.913000	0.54294	9.730000	0.98797	2.152000	0.67230	0.393000	0.25936	GGC		0.652	NACC1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452879.1	NM_052876		9	42	1	0	7.48243e-07	1	8.45758e-07	9	42				
CFH	3075	broad.mit.edu	37	1	196697650	196697650	+	Nonsense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:196697650C>A	ENST00000367429.4	+	15	2651	c.2411C>A	c.(2410-2412)tCa>tAa	p.S804*		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	804	Sushi 13. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GTGAACTGCTCAAGTAAGCTC	0.318																																						ENST00000367429.4																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(2410-2412)tCa>tAa		complement factor H							105.0	96.0	99.0					1																	196697650		2203	4299	6502	SO:0001587	stop_gained	3075				complement activation, alternative pathway	extracellular space		g.chr1:196697650C>A	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.2411C>A	1.37:g.196697650C>A	ENSP00000356399:p.Ser804*						p.S804*	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			15	2651	+			804			Sushi 13.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Nonsense_Mutation	SNP	ENST00000367429.4	37	c.2411C>A	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	C	38	6.922246	0.97936	.	.	ENSG00000000971	ENST00000367429	.	.	.	5.09	-1.95	0.07548	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	3.0405	0.06137	0.4208:0.242:0.2543:0.083	.	.	.	.	X	804	.	ENSP00000356399:S804X	S	+	2	0	CFH	194964273	0.003000	0.15002	0.056000	0.19401	0.206000	0.24218	-0.632000	0.05489	-0.299000	0.08909	0.585000	0.79938	TCA		0.318	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		15	53	1	0	4.7546e-09	1	5.7182e-09	15	53				
HTT	3064	broad.mit.edu	37	4	3182271	3182271	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:3182271G>A	ENST00000355072.5	+	36	4787	c.4642G>A	c.(4642-4644)Gac>Aac	p.D1548N		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1548					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)	p.D1548N(2)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CATAGTCCACGACCTCTTTGT	0.443																																						ENST00000355072.5																			2	Substitution - Missense(2)	p.D1548N(2)	large_intestine(2)	breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(4642-4644)Gac>Aac		huntingtin							99.0	99.0	99.0					4																	3182271		1880	4100	5980	SO:0001583	missense	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3182271G>A	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.4642G>A	4.37:g.3182271G>A	ENSP00000347184:p.Asp1548Asn						p.D1548N	NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	36	4787	+		all_epithelial(65;0.18)	1548					Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	c.4642G>A	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	G	36	5.732026	0.96856	.	.	ENSG00000197386	ENST00000355072	T	0.06294	3.32	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.21186	0.0510	L	0.44542	1.39	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00028	-1.2298	10	0.45353	T	0.12	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	1548	P42858	HD_HUMAN	N	1548	ENSP00000347184:D1548N	ENSP00000347184:D1548N	D	+	1	0	HTT	3152069	1.000000	0.71417	0.998000	0.56505	0.845000	0.48019	9.858000	0.99539	2.884000	0.98904	0.655000	0.94253	GAC		0.443	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		20	59	0	0	0	1	0	20	59				
ALDOB	229	broad.mit.edu	37	9	104184091	104184091	+	Silent	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr9:104184091C>T	ENST00000374855.4	-	9	1219	c.1095G>A	c.(1093-1095)taG>taA	p.*365*		NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	0					carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose catabolic process (GO:0006001)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|NADH oxidation (GO:0006116)|positive regulation of ATPase activity (GO:0032781)|small molecule metabolic process (GO:0044281)|vacuolar proton-transporting V-type ATPase complex assembly (GO:0070072)	centriolar satellite (GO:0034451)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)	ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-1-phosphate aldolase activity (GO:0061609)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				GCATTGGACCCTAGTAGGTAT	0.527																																						ENST00000374855.4																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24						c.(1093-1095)taG>taA		aldolase B, fructose-bisphosphate							74.0	73.0	73.0					9																	104184091		2203	4300	6503	SO:0001819	synonymous_variant	229				fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding	g.chr9:104184091C>T	X01098	CCDS6756.1	9q21.3-q22.2	2008-02-05			ENSG00000136872	ENSG00000136872	4.1.2.13		417	protein-coding gene	gene with protein product		612724					Standard	NM_000035		Approved		uc004bbk.2	P05062	OTTHUMG00000020378	ENST00000374855.4:c.1095G>A	9.37:g.104184091C>T							p.*365*	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN			9	1219	-		Acute lymphoblastic leukemia(62;0.0559)	0					Q13741|Q13742|Q5T7D6	Silent	SNP	ENST00000374855.4	37	c.1095G>A	CCDS6756.1	.	.	.	.	.	.	.	.	.	.	C	8.856	0.945671	0.18356	.	.	ENSG00000136872	ENST00000374853	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	T	0.51432	0.1674	.	.	.	0.24858	N	0.992363	.	.	.	.	.	.	T	0.45056	-0.9287	5	0.28530	T	0.3	.	17.3352	0.87278	0.0:1.0:0.0:0.0	.	.	.	.	K	217	.	ENSP00000363986:R217K	R	-	2	0	ALDOB	103223912	0.705000	0.27846	0.964000	0.40570	0.019000	0.09904	1.083000	0.30815	2.680000	0.91292	0.563000	0.77884	AGG		0.527	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053434.2			7	7	0	0	0	1	0	7	7				
TPMT	7172	broad.mit.edu	37	6	18148147	18148147	+	Splice_Site	SNP	C	C	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:18148147C>G	ENST00000309983.4	-	3	226		c.e3-1			NM_000367.2	NP_000358.1	P51580	TPMT_HUMAN	thiopurine S-methyltransferase						methylation (GO:0032259)|nucleobase-containing compound metabolic process (GO:0006139)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	thiopurine S-methyltransferase activity (GO:0008119)			large_intestine(2)|lung(1)	3	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.146)	all cancers(50;0.06)|Epithelial(50;0.0654)		Azathioprine(DB00993)|Bendroflumethiazide(DB00436)|Cefazolin(DB01327)|Mercaptopurine(DB01033)|Olsalazine(DB01250)|Trichlormethiazide(DB01021)	CTTTAATAGCCTGAAGAGGAA	0.353																																					Colon(190;1381 2791 16728 32493)	ENST00000309983.4																			0				large_intestine(2)|lung(1)	3						c.e3-1		thiopurine S-methyltransferase	Mercaptopurine(DB01033)						58.0	62.0	61.0					6																	18148147		2201	4300	6501	SO:0001630	splice_region_variant	7172				xenobiotic metabolic process	cytosol	thiopurine S-methyltransferase activity	g.chr6:18148147C>G		CCDS4543.1	6p22.3	2014-09-17			ENSG00000137364	ENSG00000137364	2.1.1.67		12014	protein-coding gene	gene with protein product		187680				8316220	Standard	NM_000367		Approved		uc003ncm.3	P51580	OTTHUMG00000014317	ENST00000309983.4:c.141-1G>C	6.37:g.18148147C>G								NM_000367.2	NP_000358.1	P51580	TPMT_HUMAN	all cancers(50;0.06)|Epithelial(50;0.0654)		3	226	-	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.146)						O14806|O15423|O15424|O15425|O15426|O15515|O15548|O43213|Q5VUK6|Q9UBE6|Q9UBT8|Q9UE62	Splice_Site	SNP	ENST00000309983.4	37		CCDS4543.1	.	.	.	.	.	.	.	.	.	.	C	9.975	1.226676	0.22542	.	.	ENSG00000137364	ENST00000309983	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8283	0.88673	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TPMT	18256126	1.000000	0.71417	0.907000	0.35723	0.041000	0.13682	5.260000	0.65490	2.538000	0.85594	0.655000	0.94253	.		0.353	TPMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039960.1		Intron	19	72	0	0	0	1	0	19	72				
PEG3	5178	broad.mit.edu	37	19	57327096	57327096	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:57327096T>A	ENST00000326441.9	-	10	3077	c.2714A>T	c.(2713-2715)cAg>cTg	p.Q905L	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.Q905L|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.Q779L|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.Q781L	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	905					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AACACTTTTCTGAGGTTTGGC	0.478																																						ENST00000326441.9																			0				NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(2713-2715)cAg>cTg		paternally expressed 3							102.0	102.0	102.0					19																	57327096		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57327096T>A	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2714A>T	19.37:g.57327096T>A	ENSP00000326581:p.Gln905Leu					ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.Q781L|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.Q905L|PEG3_ENST00000593695.1_Missense_Mutation_p.Q779L	p.Q905L	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	3077	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	905					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.2714A>T	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	T	18.63	3.664346	0.67700	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.03553	3.89;3.89	4.55	0.856	0.19019	.	0.164448	0.29145	N	0.013010	T	0.04048	0.0113	L	0.49350	1.555	.	.	.	B;B;B	0.27656	0.002;0.072;0.184	B;B;B	0.22152	0.002;0.038;0.038	T	0.09207	-1.0685	9	0.87932	D	0	-9.6307	7.8655	0.29535	0.1188:0.0:0.1733:0.7079	.	781;905;840	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	L	905	ENSP00000326581:Q905L;ENSP00000403051:Q905L	ENSP00000326581:Q905L	Q	-	2	0	ZIM2	62018908	0.000000	0.05858	0.054000	0.19295	0.417000	0.31264	-0.979000	0.03774	0.012000	0.14892	0.533000	0.62120	CAG		0.478	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			27	79	0	0	0	1	0	27	79				
CKAP2	26586	broad.mit.edu	37	13	53035751	53035751	+	Missense_Mutation	SNP	C	C	T	rs545281527	byFrequency	TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr13:53035751C>T	ENST00000378037.5	+	4	883	c.793C>T	c.(793-795)Cgg>Tgg	p.R265W	CKAP2_ENST00000490903.1_Missense_Mutation_p.R216W|CKAP2_ENST00000378034.3_Missense_Mutation_p.R264W|CKAP2_ENST00000258607.5_Missense_Mutation_p.R264W	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3			cytoskeleton associated protein 2											breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		CAGTAATACCCGGGACACTGT	0.408													c|||	2	0.000399361	0.0	0.0014	5008	,	,		20086	0.0		0.001	False		,,,				2504	0.0					ENST00000378037.5																			0				breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20						c.(793-795)Cgg>Tgg		cytoskeleton associated protein 2							91.0	83.0	86.0					13																	53035751		2203	4300	6503	SO:0001583	missense	26586				apoptosis|cell cycle	centrosome|microtubule|spindle pole		g.chr13:53035751C>T	AF177227	CCDS9435.1, CCDS41893.1, CCDS66557.1, CCDS73578.1	13q14	2014-03-21			ENSG00000136108	ENSG00000136108			1990	protein-coding gene	gene with protein product		611569				9771967	Standard	XM_005266343		Approved	LB1, FLJ10749, se20-10, TMAP	uc001vgv.2	Q8WWK9	OTTHUMG00000016967	ENST00000378037.5:c.793C>T	13.37:g.53035751C>T	ENSP00000367276:p.Arg265Trp					CKAP2_ENST00000490903.1_Missense_Mutation_p.R216W|CKAP2_ENST00000378034.3_Missense_Mutation_p.R264W|CKAP2_ENST00000258607.5_Missense_Mutation_p.R264W	p.R265W	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3	Q8WWK9	CKAP2_HUMAN		GBM - Glioblastoma multiforme(99;2.6e-08)	4	883	+		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	265						Missense_Mutation	SNP	ENST00000378037.5	37	c.793C>T	CCDS41893.1	.	.	.	.	.	.	.	.	.	.	.	9.886	1.202942	0.22121	.	.	ENSG00000136108	ENST00000398044;ENST00000258607;ENST00000378034;ENST00000378037;ENST00000490903	T;T;T;T	0.23348	2.23;1.91;2.23;2.23	5.35	5.35	0.76521	.	0.778261	0.12148	N	0.495173	T	0.11153	0.0272	N	0.08118	0	0.09310	N	1	P;B;P;B	0.46578	0.88;0.309;0.88;0.309	B;B;B;B	0.24269	0.052;0.019;0.052;0.007	T	0.13150	-1.0520	9	.	.	.	2.1295	15.7871	0.78315	0.0:1.0:0.0:0.0	.	216;265;264;265	E9PD90;Q8WWK9;B2RMQ4;A8MYU4	.;CKAP2_HUMAN;.;.	W	265;264;264;265;216	ENSP00000258607:R264W;ENSP00000367273:R264W;ENSP00000367276:R265W;ENSP00000417830:R216W	.	R	+	1	2	CKAP2	51933752	0.008000	0.16893	0.007000	0.13788	0.033000	0.12548	2.233000	0.43027	2.498000	0.84270	0.603000	0.83216	CGG		0.408	CKAP2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355010.2			25	34	0	0	0	1	0	25	34				
HIST1H1T	3010	broad.mit.edu	37	6	26107876	26107876	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:26107876G>T	ENST00000338379.4	-	1	488	c.446C>A	c.(445-447)aCc>aAc	p.T149N		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	149					binding of sperm to zona pellucida (GO:0007339)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|nucleosome assembly (GO:0006334)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						TCTCTTATTGGTTTTAGCAGT	0.468																																						ENST00000338379.4																			0				breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						c.(445-447)aCc>aAc		histone cluster 1, H1t							123.0	115.0	118.0					6																	26107876		2203	4300	6503	SO:0001583	missense	3010				cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding	g.chr6:26107876G>T	M60094	CCDS34349.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000187475	ENSG00000187475		"""Histones / Replication-dependent"""	4720	protein-coding gene	gene with protein product		142712	"""H1 histone family, member T (testis-specific)"", ""histone 1, H1t"""	H1FT		8175896, 12408966	Standard	NM_005323		Approved	H1t	uc003ngj.3	P22492	OTTHUMG00000014430	ENST00000338379.4:c.446C>A	6.37:g.26107876G>T	ENSP00000341214:p.Thr149Asn						p.T149N	NM_005323.3	NP_005314.2	P22492	H1T_HUMAN			1	488	-			149					Q6ISI1|Q8IUE8	Missense_Mutation	SNP	ENST00000338379.4	37	c.446C>A	CCDS34349.1	.	.	.	.	.	.	.	.	.	.	.	15.56	2.868536	0.51588	.	.	ENSG00000187475	ENST00000338379	T	0.04758	3.56	4.86	3.03	0.35002	.	1.584310	0.04629	N	0.403216	T	0.01156	0.0038	N	0.08118	0	0.09310	N	0.999992	B	0.21905	0.062	B	0.18871	0.023	T	0.46898	-0.9158	10	0.62326	D	0.03	-5.3279	9.9505	0.41636	0.0:0.2994:0.5626:0.138	.	149	P22492	H1T_HUMAN	N	149	ENSP00000341214:T149N	ENSP00000341214:T149N	T	-	2	0	HIST1H1T	26215855	0.410000	0.25376	0.058000	0.19502	0.020000	0.10135	1.237000	0.32695	0.624000	0.30286	0.561000	0.74099	ACC		0.468	HIST1H1T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040093.2	NM_005323		33	88	1	0	2.61193e-14	1	3.52689e-14	33	88				
ABCC12	94160	broad.mit.edu	37	16	48119591	48119591	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr16:48119591C>A	ENST00000311303.3	-	27	4086	c.3741G>T	c.(3739-3741)caG>caT	p.Q1247H	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000532355.1_5'UTR|ABCC12_ENST00000448542.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1247	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.Q1247H(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TGACTTCTGCCTGTAATTTTT	0.403																																						ENST00000311303.3																			1	Substitution - Missense(1)	p.Q1247H(1)	lung(1)	NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90						c.(3739-3741)caG>caT		ATP-binding cassette, sub-family C (CFTR/MRP), member 12							164.0	163.0	164.0					16																	48119591		2201	4300	6501	SO:0001583	missense	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48119591C>A	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.3741G>T	16.37:g.48119591C>A	ENSP00000311030:p.Gln1247His					ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000532355.1_5'UTR	p.Q1247H	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN			27	4086	-		all_cancers(37;0.0474)|all_lung(18;0.047)	1247			ABC transporter 2.		Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	c.3741G>T	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	C	9.901	1.206904	0.22205	.	.	ENSG00000140798	ENST00000311303	D	0.90563	-2.69	5.59	3.65	0.41850	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.279401	0.35436	N	0.003210	T	0.81616	0.4860	N	0.20483	0.58	0.80722	D	1	B	0.20988	0.05	B	0.21708	0.036	T	0.73600	-0.3931	10	0.41790	T	0.15	.	7.3696	0.26794	0.0:0.6741:0.0:0.3259	.	1247	Q96J65	MRP9_HUMAN	H	1247	ENSP00000311030:Q1247H	ENSP00000311030:Q1247H	Q	-	3	2	ABCC12	46677092	0.969000	0.33509	1.000000	0.80357	0.991000	0.79684	0.235000	0.17948	0.736000	0.32559	0.655000	0.94253	CAG		0.403	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		21	31	1	0	2.39556e-15	1	3.30397e-15	21	31				
NBEA	26960	broad.mit.edu	37	13	35632986	35632986	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr13:35632986G>C	ENST00000400445.3	+	8	1759	c.1225G>C	c.(1225-1227)Gga>Cga	p.G409R	NBEA_ENST00000540320.1_Missense_Mutation_p.G409R|NBEA_ENST00000379939.2_Missense_Mutation_p.G409R|NBEA_ENST00000310336.4_Missense_Mutation_p.G409R	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	409					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TCATCAGTTAGGACCTGGATA	0.343																																						ENST00000400445.3																			0				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108						c.(1225-1227)Gga>Cga		neurobeachin							36.0	33.0	34.0					13																	35632986		1815	4073	5888	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35632986G>C	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.1225G>C	13.37:g.35632986G>C	ENSP00000383295:p.Gly409Arg					NBEA_ENST00000379939.2_Missense_Mutation_p.G409R|NBEA_ENST00000310336.4_Missense_Mutation_p.G409R|NBEA_ENST00000540320.1_Missense_Mutation_p.G409R	p.G409R	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	8	1759	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	409					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.1225G>C	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.731892	0.89390	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	D	0.83912	0.5357	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86116	0.1565	10	0.87932	D	0	.	19.161	0.93531	0.0:0.0:1.0:0.0	.	409	Q5T321	.	R	409	ENSP00000440951:G409R;ENSP00000383295:G409R;ENSP00000369271:G409R;ENSP00000308534:G409R	ENSP00000308534:G409R	G	+	1	0	NBEA	34530986	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.731000	0.98807	2.613000	0.88420	0.650000	0.86243	GGA		0.343	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		3	7	0	0	0	1	0	3	7				
SLC8A1	6546	broad.mit.edu	37	2	40656161	40656161	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:40656161C>G	ENST00000403092.1	-	2	1293	c.1260G>C	c.(1258-1260)gaG>gaC	p.E420D	SLC8A1_ENST00000542756.1_Missense_Mutation_p.E420D|SLC8A1_ENST00000405901.3_Missense_Mutation_p.E420D|SLC8A1_ENST00000402441.1_Missense_Mutation_p.E420D|SLC8A1_ENST00000542024.1_Missense_Mutation_p.E420D|SLC8A1_ENST00000405269.1_Missense_Mutation_p.E420D|SLC8A1_ENST00000406785.2_Missense_Mutation_p.E420D|SLC8A1_ENST00000408028.2_Missense_Mutation_p.E420D|SLC8A1_ENST00000332839.4_Missense_Mutation_p.E420D|SLC8A1_ENST00000406391.2_Missense_Mutation_p.E420D			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	420	Calx-beta 1.				blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TACCACAGTTCTCCAGACACT	0.463																																						ENST00000406785.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.(1258-1260)gaG>gaC		solute carrier family 8 (sodium/calcium exchanger), member 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						108.0	89.0	95.0					2																	40656161		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40656161C>G		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.1260G>C	2.37:g.40656161C>G	ENSP00000384763:p.Glu420Asp					SLC8A1_ENST00000542024.1_Missense_Mutation_p.E420D|SLC8A1_ENST00000332839.4_Missense_Mutation_p.E420D|SLC8A1_ENST00000408028.2_Missense_Mutation_p.E420D|SLC8A1_ENST00000406391.2_Missense_Mutation_p.E420D|SLC8A1_ENST00000405901.3_Missense_Mutation_p.E420D|SLC8A1_ENST00000405269.1_Missense_Mutation_p.E420D|SLC8A1_ENST00000403092.1_Missense_Mutation_p.E420D|SLC8A1_ENST00000402441.1_Missense_Mutation_p.E420D|SLC8A1_ENST00000542756.1_Missense_Mutation_p.E420D	p.E420D			P32418	NAC1_HUMAN			2	1449	-			420			Calx-beta 1.		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.1260G>C	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.996250	0.54147	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07	6.17	2.32	0.28847	Na-Ca exchanger/integrin-beta4 (2);	0.045581	0.85682	N	0.000000	D	0.85716	0.5761	H	0.99565	4.63	0.80722	D	1	D;P;D;D;D	0.89917	0.999;0.873;0.999;1.0;1.0	D;P;D;D;D	0.97110	0.997;0.881;0.996;1.0;0.998	D	0.84769	0.0766	10	0.87932	D	0	.	7.5388	0.27727	0.0:0.6733:0.1196:0.2071	.	420;420;420;420;420	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	D	420	ENSP00000383886:E420D;ENSP00000440727:E420D;ENSP00000384763:E420D;ENSP00000385678:E420D;ENSP00000385188:E420D;ENSP00000385535:E420D;ENSP00000332931:E420D;ENSP00000384908:E420D;ENSP00000385811:E420D;ENSP00000443515:E420D	ENSP00000332931:E420D	E	-	3	2	SLC8A1	40509665	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.933000	0.28897	0.460000	0.27045	0.655000	0.94253	GAG		0.463	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		17	66	0	0	0	1	0	17	66				
DMD	1756	broad.mit.edu	37	X	31496420	31496420	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chrX:31496420C>G	ENST00000357033.4	-	59	8946	c.8740G>C	c.(8740-8742)Gag>Cag	p.E2914Q	DMD_ENST00000378707.3_Missense_Mutation_p.E454Q|DMD_ENST00000445312.1_5'Flank|DMD_ENST00000541735.1_Missense_Mutation_p.E454Q|DMD_ENST00000474231.1_Missense_Mutation_p.E454Q|DMD_ENST00000343523.2_Missense_Mutation_p.E454Q|DMD_ENST00000359836.1_Missense_Mutation_p.E454Q|DMD_ENST00000378677.2_Missense_Mutation_p.E2910Q	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2914					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTTTCCCACTCAGTATTGACC	0.498																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(8740-8742)Gag>Cag		dystrophin							71.0	67.0	68.0					X																	31496420		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31496420C>G	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.8740G>C	X.37:g.31496420C>G	ENSP00000354923:p.Glu2914Gln					DMD_ENST00000359836.1_Missense_Mutation_p.E454Q|DMD_ENST00000378707.3_Missense_Mutation_p.E454Q|DMD_ENST00000541735.1_Missense_Mutation_p.E454Q|DMD_ENST00000474231.1_Missense_Mutation_p.E454Q|DMD_ENST00000343523.2_Missense_Mutation_p.E454Q|DMD_ENST00000378677.2_Missense_Mutation_p.E2910Q	p.E2914Q	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			59	8946	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2914					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.8740G>C	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.65|10.65	1.410653|1.410653	0.25465|0.25465	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231|ENST00000465285	T;T;T;T;T;T;T;T|.	0.33654|.	1.4;1.4;1.4;1.4;1.4;1.4;1.4;1.4|.	5.4|5.4	3.5|3.5	0.40072|0.40072	.|.	0.000000|.	0.37393|.	U|.	0.002118|.	T|.	0.28466|.	0.0704|.	N|N	0.11427|0.11427	0.14|0.14	0.26058|0.26058	N|N	0.981399|0.981399	B;B;B;P;P;B;B;B;B;B;B|.	0.52842|.	0.216;0.172;0.172;0.956;0.956;0.003;0.049;0.049;0.172;0.264;0.34|.	B;B;B;B;B;B;B;B;B;B;B|.	0.40659|.	0.336;0.015;0.037;0.275;0.275;0.01;0.017;0.017;0.025;0.055;0.108|.	T|.	0.17776|.	-1.0358|.	10|.	0.15499|.	T|.	0.54|.	.|.	14.7446|14.7446	0.69480|0.69480	0.0:0.7339:0.2661:0.0|0.0:0.7339:0.2661:0.0	.|.	2906;2914;2910;1573;1570;454;454;454;454;454;2791|.	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3|.	.;DMD_HUMAN;.;.;.;.;.;.;.;.;.|.	Q|S	2906;1573;1570;610;2910;2914;454;454;2914;2791;454;454;454|642	ENSP00000350765:E610Q;ENSP00000367948:E2910Q;ENSP00000354923:E2914Q;ENSP00000352894:E454Q;ENSP00000340057:E454Q;ENSP00000367979:E454Q;ENSP00000444119:E454Q;ENSP00000417123:E454Q|.	ENSP00000340057:E454Q|.	E|X	-|-	1|2	0|2	DMD|DMD	31406341|31406341	0.736000|0.736000	0.28164|0.28164	0.988000|0.988000	0.46212|0.46212	0.997000|0.997000	0.91878|0.91878	1.242000|1.242000	0.32755|0.32755	1.157000|1.157000	0.42530|0.42530	0.529000|0.529000	0.55759|0.55759	GAG|TGA		0.498	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		24	20	0	0	0	1	0	24	20				
BTN3A3	10384	broad.mit.edu	37	6	26452000	26452000	+	Silent	SNP	A	A	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:26452000A>T	ENST00000244519.2	+	11	1359	c.1116A>T	c.(1114-1116)ccA>ccT	p.P372P	BTN3A3_ENST00000361232.3_Silent_p.P323P|BTN3A3_ENST00000339789.4_Silent_p.P330P	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	372	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						GGGATCTGCCAGACAACCCTG	0.537																																						ENST00000244519.2																			0				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(1114-1116)ccA>ccT		butyrophilin, subfamily 3, member A3							97.0	104.0	102.0					6																	26452000		2203	4300	6503	SO:0001819	synonymous_variant	10384					integral to membrane		g.chr6:26452000A>T	U90548	CCDS4611.1, CCDS4612.1, CCDS4612.2	6p22.1	2014-01-14			ENSG00000111801	ENSG00000111801		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1140	protein-coding gene	gene with protein product		613595				10354554, 9149941	Standard	NM_006994		Approved	BTF3, BTN3.3	uc003nhz.3	O00478	OTTHUMG00000014451	ENST00000244519.2:c.1116A>T	6.37:g.26452000A>T						BTN3A3_ENST00000339789.4_Silent_p.P330P|BTN3A3_ENST00000361232.3_Silent_p.P323P	p.P372P	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN			11	1359	+			372			B30.2/SPRY.		B4DWI7|E9PCP5	Silent	SNP	ENST00000244519.2	37	c.1116A>T	CCDS4611.1																																																																																				0.537	BTN3A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040116.2	NM_006994		23	58	0	0	0	1	0	23	58				
ZNF780B	163131	broad.mit.edu	37	19	40542336	40542336	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:40542336T>C	ENST00000434248.1	-	5	495	c.430A>G	c.(430-432)Atc>Gtc	p.I144V	ZNF780B_ENST00000221355.6_5'UTR	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	144					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCATAGCTGATGATCTTCTGG	0.373																																						ENST00000434248.1																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(430-432)Atc>Gtc		zinc finger protein 780B							122.0	126.0	125.0					19																	40542336		2172	4288	6460	SO:0001583	missense	163131				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40542336T>C	AK127063	CCDS46077.1	19q13.2	2013-01-08	2006-08-15	2006-08-15	ENSG00000128000	ENSG00000128000		"""Zinc fingers, C2H2-type"", ""-"""	33109	protein-coding gene	gene with protein product			"""zinc finger protein 779"""	ZNF779			Standard	NM_001005851		Approved		uc002omu.3	Q9Y6R6	OTTHUMG00000155118	ENST00000434248.1:c.430A>G	19.37:g.40542336T>C	ENSP00000391641:p.Ile144Val					ZNF780B_ENST00000221355.6_5'UTR	p.I144V	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN			5	495	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		144					B9EH00	Missense_Mutation	SNP	ENST00000434248.1	37	c.430A>G	CCDS46077.1	.	.	.	.	.	.	.	.	.	.	T	7.091	0.572203	0.13623	.	.	ENSG00000128000	ENST00000434248	T	0.04862	3.54	2.44	1.33	0.21861	.	.	.	.	.	T	0.10165	0.0249	L	0.32530	0.975	0.09310	N	0.999998	P	0.48640	0.913	P	0.61592	0.891	T	0.31530	-0.9940	9	0.16420	T	0.52	.	6.3324	0.21276	0.0:0.0:0.2543:0.7457	.	144	Q9Y6R6	Z780B_HUMAN	V	144	ENSP00000391641:I144V	ENSP00000391641:I144V	I	-	1	0	ZNF780B	45234176	0.000000	0.05858	0.001000	0.08648	0.027000	0.11550	0.078000	0.14761	0.059000	0.16252	0.260000	0.18958	ATC		0.373	ZNF780B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338466.1	NM_001005851		13	31	0	0	0	1	0	13	31				
BFSP2	8419	broad.mit.edu	37	3	133119261	133119261	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:133119261G>T	ENST00000302334.2	+	1	423	c.334G>T	c.(334-336)Ggg>Tgg	p.G112W		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	112	Head.				cell maturation (GO:0048469)|intermediate filament cytoskeleton organization (GO:0045104)|lens fiber cell development (GO:0070307)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						TGAGGACCTAGGGGGCTGCCT	0.607																																						ENST00000302334.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						c.(334-336)Ggg>Tgg		beaded filament structural protein 2, phakinin							54.0	62.0	59.0					3																	133119261		2203	4300	6503	SO:0001583	missense	8419				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	g.chr3:133119261G>T	U48224	CCDS33859.1	3q22.1	2013-01-16			ENSG00000170819	ENSG00000170819		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1041	protein-coding gene	gene with protein product		603212					Standard	NM_003571		Approved	CP47, CP49, LIFL-L, phakinin	uc003epn.1	Q13515	OTTHUMG00000159719	ENST00000302334.2:c.334G>T	3.37:g.133119261G>T	ENSP00000304987:p.Gly112Trp						p.G112W	NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN			1	423	+			112			Head.		Q14D32|Q9HBW5	Missense_Mutation	SNP	ENST00000302334.2	37	c.334G>T	CCDS33859.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.136429	0.77662	.	.	ENSG00000170819	ENST00000302334	D	0.82984	-1.67	5.95	4.97	0.65823	.	0.472651	0.19282	N	0.118138	D	0.83931	0.5361	L	0.36672	1.1	0.42564	D	0.993154	D	0.89917	1.0	D	0.85130	0.997	D	0.83520	0.0085	10	0.87932	D	0	-43.9682	3.9627	0.09418	0.3151:0.0:0.6849:0.0	.	112	Q13515	BFSP2_HUMAN	W	112	ENSP00000304987:G112W	ENSP00000304987:G112W	G	+	1	0	BFSP2	134601951	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	4.689000	0.61723	2.826000	0.97356	0.563000	0.77884	GGG		0.607	BFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357031.1			14	45	1	0	1.05317e-09	1	1.30489e-09	14	45				
SLC35F3	148641	broad.mit.edu	37	1	234444975	234444975	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:234444975C>A	ENST00000366617.3	+	3	758	c.530C>A	c.(529-531)aCt>aAt	p.T177N	MIR4671_ENST00000583284.1_RNA|SLC35F3_ENST00000366618.3_Missense_Mutation_p.T246N			Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	177					thiamine transport (GO:0015888)	integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			AAAATAAACACTACGGATGTC	0.438																																						ENST00000366618.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32						c.(736-738)aCt>aAt		solute carrier family 35, member F3							124.0	114.0	118.0					1																	234444975		2203	4300	6503	SO:0001583	missense	148641				transport	integral to membrane		g.chr1:234444975C>A		CCDS1600.1, CCDS73050.1	1q42.3	2013-05-22			ENSG00000183780	ENSG00000183780		"""Solute carriers"""	23616	protein-coding gene	gene with protein product							Standard	XM_005273070		Approved	FLJ37712	uc001hvy.1	Q8IY50	OTTHUMG00000037929	ENST00000366617.3:c.530C>A	1.37:g.234444975C>A	ENSP00000355576:p.Thr177Asn					SLC35F3_ENST00000366617.3_Missense_Mutation_p.T177N	p.T246N	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00531)		4	882	+	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	177					Q5TDD6|Q8N9C9	Missense_Mutation	SNP	ENST00000366617.3	37	c.737C>A		.	.	.	.	.	.	.	.	.	.	C	18.07	3.541563	0.65085	.	.	ENSG00000183780	ENST00000366618;ENST00000366617	T;T	0.51574	0.7;0.7	5.58	5.58	0.84498	Drug/metabolite transporter (1);	0.091369	0.85682	D	0.000000	T	0.37128	0.0992	N	0.08118	0	0.43238	D	0.995147	B;B	0.31459	0.324;0.277	B;B	0.38296	0.27;0.099	T	0.29579	-1.0007	10	0.38643	T	0.18	-10.6829	19.5559	0.95347	0.0:1.0:0.0:0.0	.	177;246	Q8IY50;Q8IY50-2	S35F3_HUMAN;.	N	246;177	ENSP00000355577:T246N;ENSP00000355576:T177N	ENSP00000355576:T177N	T	+	2	0	SLC35F3	232511598	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.948000	0.70249	2.646000	0.89796	0.655000	0.94253	ACT		0.438	SLC35F3-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000128322.1	NM_173508		20	61	1	0	4.35082e-09	1	5.27478e-09	20	61				
PLXNA1	5361	broad.mit.edu	37	3	126723963	126723963	+	Missense_Mutation	SNP	C	C	T	rs201695917		TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:126723963C>T	ENST00000393409.2	+	6	1774	c.1774C>T	c.(1774-1776)Ctc>Ttc	p.L592F	PLXNA1_ENST00000251772.4_Missense_Mutation_p.L569F	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	592					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CGTGCCTGACCTCTCAGCTGG	0.657																																						ENST00000393409.2																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(1774-1776)Ctc>Ttc		plexin A1							65.0	51.0	55.0					3																	126723963		2201	4299	6500	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126723963C>T	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.1774C>T	3.37:g.126723963C>T	ENSP00000377061:p.Leu592Phe					PLXNA1_ENST00000251772.4_Missense_Mutation_p.L569F	p.L592F	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	6	1774	+			592						Missense_Mutation	SNP	ENST00000393409.2	37	c.1774C>T	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166347	0.78339	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.14022	2.54;2.54	3.4	3.4	0.38934	.	0.303544	0.22544	N	0.058695	T	0.37705	0.1013	M	0.82193	2.58	0.80722	D	1	D	0.58970	0.984	P	0.62649	0.905	T	0.45249	-0.9274	10	0.56958	D	0.05	.	15.3845	0.74687	0.0:1.0:0.0:0.0	.	592	Q9UIW2	PLXA1_HUMAN	F	592;569	ENSP00000377061:L592F;ENSP00000251772:L569F	ENSP00000251772:L569F	L	+	1	0	PLXNA1	128206653	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	7.589000	0.82641	1.927000	0.55829	0.313000	0.20887	CTC		0.657	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		4	27	0	0	0	1	0	4	27				
OR3A4P	390756	broad.mit.edu	37	17	3213545	3213545	+	RNA	SNP	G	G	C	rs8071097	byFrequency	TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr17:3213545G>C	ENST00000573491.1	-	0	359																											ACCTCATCCTGCTTCTGCCAC	0.498													C|||	1010	0.201677	0.4743	0.1585	5008	,	,		20885	0.0456		0.1123	False		,,,				2504	0.1166					ENST00000573491.1																			0																																																			390756							g.chr17:3213545G>C																													17.37:g.3213545G>C						OR3A4P_ENST00000323164.4_RNA								0	359	-									RNA	SNP	ENST00000573491.1	37																																																																																						0.498	RP11-64J4.2-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000438371.1			3	26	0	0	0	1	0	3	26				
PAPPA2	60676	broad.mit.edu	37	1	176709164	176709164	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:176709164C>G	ENST00000367662.3	+	14	5147	c.3983C>G	c.(3982-3984)aCc>aGc	p.T1328S		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1328					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ATCAATGTGACCCATCACCAG	0.463																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(3982-3984)aCc>aGc		pappalysin 2							215.0	210.0	211.0					1																	176709164		2027	4180	6207	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176709164C>G	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.3983C>G	1.37:g.176709164C>G	ENSP00000356634:p.Thr1328Ser						p.T1328S	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			14	5147	+			1328					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.3983C>G	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	C	7.498	0.651990	0.14580	.	.	ENSG00000116183	ENST00000367662	T	0.01572	4.76	5.77	0.542	0.17174	.	0.257723	0.44483	N	0.000444	T	0.01189	0.0039	N	0.17278	0.47	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.57528	-0.7796	10	0.16420	T	0.52	-10.4722	8.1725	0.31262	0.0:0.4961:0.3661:0.1378	.	1328	Q9BXP8	PAPP2_HUMAN	S	1328	ENSP00000356634:T1328S	ENSP00000356634:T1328S	T	+	2	0	PAPPA2	174975787	0.642000	0.27260	0.814000	0.32528	0.337000	0.28794	0.789000	0.26886	-0.143000	0.11334	-0.254000	0.11334	ACC		0.463	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			29	82	0	0	0	1	0	29	82				
CDR1	1038	broad.mit.edu	37	X	139865920	139865920	+	Silent	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chrX:139865920C>T	ENST00000370532.2	-	1	803	c.612G>A	c.(610-612)aaG>aaA	p.K204K		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	204	5 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				AAATCCAGGTCTTCCAGCCAA	0.448																																						ENST00000370532.2																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25						c.(610-612)aaG>aaA		cerebellar degeneration-related protein 1, 34kDa							113.0	109.0	110.0					X																	139865920		2203	4300	6503	SO:0001819	synonymous_variant	1038							g.chrX:139865920C>T		CCDS14670.1	Xq27.1	2013-06-13	2002-08-29		ENSG00000184258	ENSG00000184258			1798	protein-coding gene	gene with protein product	"""Cerebellar degeneration-related protein-1 (34kD)"""	302650	"""cerebellar degeneration-related protein (34kD)"""	CDR		2326268	Standard	NM_004065		Approved	CDR62A, CDR34	uc004fbg.1	P51861	OTTHUMG00000137398	ENST00000370532.2:c.612G>A	X.37:g.139865920C>T							p.K204K	NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN			1	803	-	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)	204			5 X 6 AA approximate repeats.		Q5JXH6	Silent	SNP	ENST00000370532.2	37	c.612G>A	CCDS14670.1																																																																																				0.448	CDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058583.1	NM_004065		78	58	0	0	0	1	0	78	58				
GRIN2A	2903	broad.mit.edu	37	16	9857816	9857816	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr16:9857816G>T	ENST00000396573.2	-	14	3894	c.3585C>A	c.(3583-3585)gaC>gaA	p.D1195E	GRIN2A_ENST00000396575.2_Missense_Mutation_p.D1195E|GRIN2A_ENST00000330684.3_Missense_Mutation_p.D1195E|GRIN2A_ENST00000404927.2_Missense_Mutation_p.D1195E|GRIN2A_ENST00000535259.1_Missense_Mutation_p.D1038E|GRIN2A_ENST00000562109.1_Missense_Mutation_p.D1195E	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1195					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GGGAACCCTTGTCTTTCAAGG	0.532																																						ENST00000396573.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(3583-3585)gaC>gaA		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						314.0	302.0	306.0					16																	9857816		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9857816G>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3585C>A	16.37:g.9857816G>T	ENSP00000379818:p.Asp1195Glu					GRIN2A_ENST00000396575.2_Missense_Mutation_p.D1195E|GRIN2A_ENST00000404927.2_Missense_Mutation_p.D1195E|GRIN2A_ENST00000330684.3_Missense_Mutation_p.D1195E|GRIN2A_ENST00000535259.1_Missense_Mutation_p.D1038E|GRIN2A_ENST00000562109.1_Missense_Mutation_p.D1195E	p.D1195E	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			14	3894	-			1195					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.3585C>A	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	0.270	-0.993668	0.02145	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.08984	3.05;3.04;3.03;3.05;3.05	5.32	3.25	0.37280	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.110486	0.64402	D	0.000004	T	0.02688	0.0081	N	0.02916	-0.46	0.30037	N	0.812987	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.15870	0.008;0.014;0.004	T	0.37502	-0.9703	9	.	.	.	.	4.4807	0.11766	0.0815:0.115:0.5155:0.2879	.	1038;1195;1195	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	E	1195;1195;1038;1195;1195	ENSP00000379818:D1195E;ENSP00000385872:D1195E;ENSP00000441572:D1038E;ENSP00000332549:D1195E;ENSP00000379820:D1195E	.	D	-	3	2	GRIN2A	9765317	0.997000	0.39634	1.000000	0.80357	0.983000	0.72400	0.398000	0.20899	2.476000	0.83614	0.655000	0.94253	GAC		0.532	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			78	211	1	0	6.09464e-36	1	8.80987e-36	78	211				
CAAP1	79886	broad.mit.edu	37	9	26861107	26861107	+	Silent	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr9:26861107G>A	ENST00000333916.5	-	5	784	c.696C>T	c.(694-696)tcC>tcT	p.S232S	CAAP1_ENST00000535437.1_Silent_p.S87S|CAAP1_ENST00000495958.1_5'UTR|CAAP1_ENST00000520187.1_Intron	NM_001167575.1|NM_024828.3	NP_001161047.1|NP_079104.3	Q9H8G2	CAAP1_HUMAN	caspase activity and apoptosis inhibitor 1	232					apoptotic process (GO:0006915)												TCTCTCTCACGGATGAAGCAG	0.323																																						ENST00000333916.5																			0											c.(694-696)tcC>tcT		caspase activity and apoptosis inhibitor 1							96.0	104.0	101.0					9																	26861107		2203	4300	6503	SO:0001819	synonymous_variant	79886							g.chr9:26861107G>A	BC014658	CCDS6516.1	9p21.2	2012-04-20	2012-04-20	2012-04-20	ENSG00000120159	ENSG00000120159			25834	protein-coding gene	gene with protein product	"""conserved anti-apoptotic protein"""		"""chromosome 9 open reading frame 82"""	C9orf82		21980415	Standard	NM_024828		Approved	FLJ13657, CAAP	uc003zqc.3	Q9H8G2	OTTHUMG00000019706	ENST00000333916.5:c.696C>T	9.37:g.26861107G>A						CAAP1_ENST00000495958.1_5'UTR|CAAP1_ENST00000520187.1_Intron|CAAP1_ENST00000535437.1_Silent_p.S87S	p.S232S	NM_001167575.1|NM_024828.3	NP_001161047.1|NP_079104.3	Q9H8G2	CI082_HUMAN			5	784	-			232					B4DWT4|D3DRK4|Q5VY32|Q6IPE6|Q96C59	Silent	SNP	ENST00000333916.5	37	c.696C>T	CCDS6516.1																																																																																				0.323	CAAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051954.1	NM_024828		27	51	0	0	0	1	0	27	51				
SOX4	6659	broad.mit.edu	37	6	21595659	21595659	+	Silent	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:21595659G>T	ENST00000244745.1	+	1	1688	c.894G>T	c.(892-894)ctG>ctT	p.L298L	SOX4_ENST00000543472.1_Silent_p.L298L	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	298					ascending aorta morphogenesis (GO:0035910)|atrial septum primum morphogenesis (GO:0003289)|canonical Wnt signaling pathway (GO:0060070)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle formation (GO:0003211)|cellular response to glucose stimulus (GO:0071333)|DNA damage response, detection of DNA damage (GO:0042769)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endocrine pancreas development (GO:0031018)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|kidney morphogenesis (GO:0060993)|limb bud formation (GO:0060174)|mitral valve morphogenesis (GO:0003183)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein ubiquitination (GO:0031397)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|noradrenergic neuron differentiation (GO:0003357)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin secretion (GO:0032024)|positive regulation of N-terminal peptidyl-lysine acetylation (GO:2000761)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|positive regulation of Wnt signaling pathway (GO:0030177)|pro-B cell differentiation (GO:0002328)|protein stabilization (GO:0050821)|regulation of protein stability (GO:0031647)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spinal cord development (GO:0021510)|spinal cord motor neuron differentiation (GO:0021522)|sympathetic nervous system development (GO:0048485)|T cell differentiation (GO:0030217)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|nucleic acid binding transcription factor activity (GO:0001071)|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 transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			GCGTCTACCTGTTCGGCGGCC	0.766																																						ENST00000244745.1																			0				kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6						c.(892-894)ctG>ctT		SRY (sex determining region Y)-box 4							8.0	11.0	10.0					6																	21595659		1234	2646	3880	SO:0001819	synonymous_variant	6659				canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity	g.chr6:21595659G>T	AF070669	CCDS4547.1	6p22.3	2008-02-05			ENSG00000124766	ENSG00000124766		"""SRY (sex determining region Y)-boxes"""	11200	protein-coding gene	gene with protein product		184430				8268656, 9730625	Standard	NM_003107		Approved		uc003ndi.3	Q06945	OTTHUMG00000016101	ENST00000244745.1:c.894G>T	6.37:g.21595659G>T						SOX4_ENST00000543472.1_Silent_p.L298L	p.L298L	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	all cancers(50;0.0751)|Epithelial(50;0.155)		1	1688	+	Ovarian(93;0.163)		298						Silent	SNP	ENST00000244745.1	37	c.894G>T	CCDS4547.1																																																																																				0.766	SOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043301.1	NM_003107		2	2	1	0	6.4e-05	1	6.80755e-05	2	2				
YTHDC2	64848	broad.mit.edu	37	5	112920103	112920103	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr5:112920103C>T	ENST00000161863.4	+	26	3965	c.3752C>T	c.(3751-3753)tCt>tTt	p.S1251F		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1251	Ser-rich.				ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TCAGATCAGTCTTCTCTGAAA	0.428																																						ENST00000161863.4																			0				NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43						c.(3751-3753)tCt>tTt		YTH domain containing 2							160.0	141.0	147.0					5																	112920103		2202	4300	6502	SO:0001583	missense	64848						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:112920103C>T	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.3752C>T	5.37:g.112920103C>T	ENSP00000161863:p.Ser1251Phe						p.S1251F	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)	26	3965	+		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)	1251			Ser-rich.		B2RP66	Missense_Mutation	SNP	ENST00000161863.4	37	c.3752C>T	CCDS4113.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.521240	0.44866	.	.	ENSG00000047188	ENST00000161863;ENST00000511372	T	0.02709	4.19	5.06	4.13	0.48395	.	0.313213	0.32161	N	0.006487	T	0.04003	0.0112	L	0.44542	1.39	0.80722	D	1	P	0.50943	0.94	B	0.41571	0.36	T	0.52396	-0.8581	10	0.51188	T	0.08	.	14.5624	0.68151	0.0:0.8528:0.1471:0.0	.	1251	Q9H6S0	YTDC2_HUMAN	F	1251;1161	ENSP00000161863:S1251F	ENSP00000161863:S1251F	S	+	2	0	YTHDC2	112948002	1.000000	0.71417	0.998000	0.56505	0.859000	0.49053	3.990000	0.56965	2.351000	0.79841	0.591000	0.81541	TCT		0.428	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828		28	53	0	0	0	1	0	28	53				
ALPPL2	251	broad.mit.edu	37	2	233273006	233273006	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:233273006G>T	ENST00000295453.3	+	6	730	c.678G>T	c.(676-678)atG>atT	p.M226I		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	226					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	GAAAGTACATGTTTCCCATGG	0.617																																						ENST00000295453.3																			0				breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13						c.(676-678)atG>atT		alkaline phosphatase, placental-like 2	Amifostine(DB01143)|Levamisole(DB00848)						89.0	97.0	94.0					2																	233273006		2202	4298	6500	SO:0001583	missense	251				phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233273006G>T	J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.678G>T	2.37:g.233273006G>T	ENSP00000295453:p.Met226Ile						p.M226I	NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	6	730	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	226					A8KAF2|Q16727|Q53S81|Q96CM1	Missense_Mutation	SNP	ENST00000295453.3	37	c.678G>T	CCDS2491.1	.	.	.	.	.	.	.	.	.	.	g	17.46	3.395201	0.62066	.	.	ENSG00000163286	ENST00000295453	D	0.96802	-4.13	3.24	3.24	0.37175	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.97318	0.9123	M	0.83603	2.65	0.53005	D	0.999966	P	0.42039	0.769	P	0.52481	0.7	D	0.98204	1.0469	10	0.72032	D	0.01	.	14.7785	0.69749	0.0:0.0:1.0:0.0	.	226	P10696	PPBN_HUMAN	I	226	ENSP00000295453:M226I	ENSP00000295453:M226I	M	+	3	0	ALPPL2	232981250	1.000000	0.71417	0.996000	0.52242	0.554000	0.35429	9.197000	0.94985	1.499000	0.48617	0.205000	0.17691	ATG		0.617	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313		15	69	1	0	2.31682e-05	1	2.49376e-05	15	69				
UBR5	51366	broad.mit.edu	37	8	103326146	103326146	+	Splice_Site	SNP	T	T	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr8:103326146T>C	ENST00000520539.1	-	16	2501		c.e16-2		UBR5_ENST00000220959.4_Splice_Site|UBR5_ENST00000521922.1_Splice_Site	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5						cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GTCGTCGTTCTTAGACAACAA	0.363																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.e16-2		ubiquitin protein ligase E3 component n-recognin 5							117.0	107.0	110.0					8																	103326146		2203	4299	6502	SO:0001630	splice_region_variant	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103326146T>C	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.1895-2A>G	8.37:g.103326146T>C						UBR5_ENST00000220959.4_Splice_Site|UBR5_ENST00000521922.1_Splice_Site		NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		16	2501	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)							B2RP24|J3KMW7|O94970|Q9NPL3	Splice_Site	SNP	ENST00000520539.1	37		CCDS34933.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.423016	0.83559	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	.	.	.	4.61	4.61	0.57282	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2924	0.66289	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	UBR5	103395322	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.947000	0.87758	1.846000	0.53633	0.397000	0.26171	.		0.363	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902	Intron	24	64	0	0	0	1	0	24	64				
PALB2	79728	broad.mit.edu	37	16	23640992	23640992	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr16:23640992C>A	ENST00000261584.4	-	5	2635	c.2483G>T	c.(2482-2484)tGc>tTc	p.C828F		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	828	Required for interaction with POLH and POLH DNA synthesis stimulation.				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		CAGCTCCTGGCATGTGTTTCT	0.438			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks																														ENST00000261584.4			yes	Rec		"""Fanconi anaemia N, breast cancer susceptibility """	16	16p12.1	79728	"""F, N, Mis"""	partner and localizer of BRCA2			"""L, O, E"""		"""Wilms tumor, medulloblastoma, AML ,breast"""			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(2482-2484)tGc>tTc	Involved in tolerance or repair of DNA crosslinks	partner and localizer of BRCA2							93.0	93.0	93.0					16																	23640992		2197	4300	6497	SO:0001583	missense	79728				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	g.chr16:23640992C>A		CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"""Fanconi anemia, complementation groups"""	26144	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group N"""	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.2483G>T	16.37:g.23640992C>A	ENSP00000261584:p.Cys828Phe						p.C828F	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN		GBM - Glioblastoma multiforme(48;0.0167)	5	2635	-			828					A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Missense_Mutation	SNP	ENST00000261584.4	37	c.2483G>T	CCDS32406.1	.	.	.	.	.	.	.	.	.	.	C	6.128	0.391763	0.11581	.	.	ENSG00000083093	ENST00000261584	T	0.13778	2.56	6.05	0.118	0.14667	.	0.830943	0.10942	N	0.617108	T	0.08179	0.0204	L	0.42245	1.32	0.09310	N	1	B	0.16802	0.019	B	0.12156	0.007	T	0.42982	-0.9419	10	0.09590	T	0.72	4.7542	0.8243	0.01118	0.193:0.3978:0.1328:0.2765	.	828	Q86YC2	PALB2_HUMAN	F	828	ENSP00000261584:C828F	ENSP00000261584:C828F	C	-	2	0	PALB2	23548493	0.000000	0.05858	0.000000	0.03702	0.155000	0.21991	-0.038000	0.12144	0.122000	0.18314	-0.176000	0.13171	TGC		0.438	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	NM_024675		11	56	1	0	0.010729	1	0.0109475	11	56				
RNF220	55182	broad.mit.edu	37	1	44878355	44878355	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:44878355C>T	ENST00000355387.2	+	2	1036	c.586C>T	c.(586-588)Cgg>Tgg	p.R196W	RNF220_ENST00000361799.2_Missense_Mutation_p.R196W|RNF220_ENST00000372247.2_Missense_Mutation_p.R196W			Q5VTB9	RN220_HUMAN	ring finger protein 220	196					protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						CATTTCTGATCGGGAAGCCTC	0.512																																						ENST00000355387.2																			0				endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						c.(586-588)Cgg>Tgg		ring finger protein 220							96.0	88.0	91.0					1																	44878355		2203	4300	6503	SO:0001583	missense	55182				protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr1:44878355C>T	AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"""RING-type (C3HC4) zinc fingers"""	25552	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 164"""	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.586C>T	1.37:g.44878355C>T	ENSP00000347548:p.Arg196Trp					RNF220_ENST00000361799.2_Missense_Mutation_p.R196W|RNF220_ENST00000372247.2_Missense_Mutation_p.R196W	p.R196W			Q5VTB9	RN220_HUMAN			2	1036	+			196					B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Missense_Mutation	SNP	ENST00000355387.2	37	c.586C>T	CCDS510.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.332257	0.60853	.	.	ENSG00000187147	ENST00000355387;ENST00000361799;ENST00000453887;ENST00000372247	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.55049	0.1896	N	0.12182	0.205	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.61912	-0.6965	9	0.72032	D	0.01	.	14.6269	0.68626	0.1457:0.8543:0.0:0.0	.	196	Q5VTB9	RN220_HUMAN	W	196	.	ENSP00000347548:R196W	R	+	1	2	RNF220	44650942	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.860000	0.48372	2.684000	0.91462	0.655000	0.94253	CGG		0.512	RNF220-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020683.4	NM_018150		22	60	0	0	0	1	0	22	60				
MYBBP1A	10514	broad.mit.edu	37	17	4443014	4443014	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr17:4443014G>C	ENST00000254718.4	-	26	3989	c.3683C>G	c.(3682-3684)cCa>cGa	p.P1228R	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.P1228R			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	1228	Required for nuclear and nucleolar localization. {ECO:0000250}.				cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						CTTGGTGGTTGGCGTCCCGTT	0.652																																						ENST00000254718.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						c.(3682-3684)cCa>cGa		MYB binding protein (P160) 1a							91.0	98.0	96.0					17																	4443014		2203	4300	6503	SO:0001583	missense	10514				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding	g.chr17:4443014G>C	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"""p53-activated protein-2"""	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.3683C>G	17.37:g.4443014G>C	ENSP00000254718:p.Pro1228Arg					MYBBP1A_ENST00000381556.2_Missense_Mutation_p.P1228R	p.P1228R			Q9BQG0	MBB1A_HUMAN			26	3989	-			1228			Required for nuclear and nucleolar localization (By similarity).		Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Missense_Mutation	SNP	ENST00000254718.4	37	c.3683C>G	CCDS11046.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.836228	0.50951	.	.	ENSG00000132382	ENST00000381556;ENST00000254718;ENST00000426435	T;T	0.19250	2.16;2.16	4.69	3.72	0.42706	.	0.746521	0.12459	N	0.467118	T	0.28433	0.0703	L	0.27053	0.805	0.09310	N	1	P;D	0.67145	0.933;0.996	B;D	0.66351	0.357;0.943	T	0.08659	-1.0711	10	0.36615	T	0.2	-3.3576	8.772	0.34737	0.1025:0.0:0.8975:0.0	.	1228;1228	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	R	1228;1228;568	ENSP00000370968:P1228R;ENSP00000254718:P1228R	ENSP00000254718:P1228R	P	-	2	0	MYBBP1A	4389763	0.966000	0.33281	0.004000	0.12327	0.001000	0.01503	2.709000	0.47160	1.330000	0.45394	0.561000	0.74099	CCA		0.652	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520		20	58	0	0	0	1	0	20	58				
SLC5A4	6527	broad.mit.edu	37	22	32643427	32643427	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr22:32643427G>T	ENST00000266086.4	-	5	459	c.448C>A	c.(448-450)Ctc>Atc	p.L150I	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	150					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CAGATGAAGAGGGAGAGGATG	0.498																																						ENST00000266086.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(448-450)Ctc>Atc		solute carrier family 5 (glucose activated ion channel), member 4							102.0	82.0	89.0					22																	32643427		2203	4300	6503	SO:0001583	missense	6527				carbohydrate transport|sodium ion transport	integral to membrane	symporter activity	g.chr22:32643427G>T	U41897	CCDS13903.1	22q12.3	2013-07-19	2013-07-19		ENSG00000100191	ENSG00000100191		"""Solute carriers"""	11039	protein-coding gene	gene with protein product			"""solute carrier family 5 (low affinity glucose cotransporter), member 4"""			9501190, 12354616	Standard	NM_014227		Approved	SAAT1, SGLT3, DJ90G24.4	uc003ami.3	Q9NY91	OTTHUMG00000150007	ENST00000266086.4:c.448C>A	22.37:g.32643427G>T	ENSP00000266086:p.Leu150Ile					RP1-90G24.10_ENST00000434942.1_RNA	p.L150I	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN			5	459	-			150					O15279	Missense_Mutation	SNP	ENST00000266086.4	37	c.448C>A	CCDS13903.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.163876	0.78226	.	.	ENSG00000100191	ENST00000266086	D	0.89196	-2.48	5.07	2.91	0.33838	.	0.127203	0.53938	N	0.000043	D	0.89252	0.6662	M	0.62016	1.91	0.54753	D	0.999987	B	0.32800	0.385	B	0.43916	0.436	D	0.87600	0.2496	10	0.72032	D	0.01	.	10.086	0.42419	0.0:0.1485:0.6975:0.154	.	150	Q9NY91	SC5A4_HUMAN	I	150	ENSP00000266086:L150I	ENSP00000266086:L150I	L	-	1	0	SLC5A4	30973427	1.000000	0.71417	0.735000	0.30896	0.922000	0.55478	4.618000	0.61211	0.688000	0.31529	0.591000	0.81541	CTC		0.498	SLC5A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315724.1	NM_014227		6	30	1	0	8.12818e-05	1	8.62544e-05	6	30				
SPHKAP	80309	broad.mit.edu	37	2	228855881	228855881	+	Silent	SNP	A	A	T	rs137978320	byFrequency	TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:228855881A>T	ENST00000392056.3	-	11	4840	c.4794T>A	c.(4792-4794)ccT>ccA	p.P1598P	SPHKAP_ENST00000344657.5_Silent_p.P1569P	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1598						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTGTTCCCGTAGGCGGTCCAG	0.562																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(4792-4794)ccT>ccA		SPHK1 interactor, AKAP domain containing							53.0	54.0	53.0					2																	228855881		2203	4300	6503	SO:0001819	synonymous_variant	80309					cytoplasm	protein binding	g.chr2:228855881A>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4794T>A	2.37:g.228855881A>T						SPHKAP_ENST00000344657.5_Silent_p.P1569P	p.P1598P	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	11	4840	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1598					Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	ENST00000392056.3	37	c.4794T>A	CCDS46537.1																																																																																				0.562	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		20	53	0	0	0	1	0	20	53				
DENND4B	9909	broad.mit.edu	37	1	153914360	153914360	+	Missense_Mutation	SNP	C	C	G	rs375027053		TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:153914360C>G	ENST00000361217.4	-	6	1458	c.1040G>C	c.(1039-1041)cGc>cCc	p.R347P		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	347	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAAGGGTAGGCGGTGGGGGCC	0.632																																						ENST00000361217.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(1039-1041)cGc>cCc		DENN/MADD domain containing 4B							43.0	49.0	47.0					1																	153914360		2133	4229	6362	SO:0001583	missense	9909							g.chr1:153914360C>G	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.1040G>C	1.37:g.153914360C>G	ENSP00000354597:p.Arg347Pro						p.R347P	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		6	1458	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		347			DENN.		Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	37	c.1040G>C	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	C	6.761	0.509358	0.12883	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.05925	3.37;3.37	4.39	4.39	0.52855	DENN (3);	0.360965	0.25509	N	0.030194	T	0.00906	0.0030	N	0.01048	-1.04	0.36316	D	0.857976	D	0.54964	0.969	P	0.48552	0.581	T	0.40850	-0.9541	10	0.02654	T	1	-18.4315	9.7557	0.40502	0.3261:0.6739:0.0:0.0	.	347	O75064	DEN4B_HUMAN	P	347;358	ENSP00000354597:R347P;ENSP00000357635:R358P	ENSP00000354597:R347P	R	-	2	0	DENND4B	152180984	0.943000	0.32029	1.000000	0.80357	0.980000	0.70556	2.900000	0.48687	2.292000	0.77174	0.462000	0.41574	CGC		0.632	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		10	29	0	0	0	1	0	10	29				
BCL6B	255877	broad.mit.edu	37	17	6927486	6927486	+	Silent	SNP	C	C	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr17:6927486C>G	ENST00000293805.5	+	3	356	c.264C>G	c.(262-264)ggC>ggG	p.G88G	BCL6B_ENST00000572216.1_Intron	NM_181844.3	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	88	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			skin(1)	1						AAGCGAGAGGCTTCGCCCCTC	0.612																																						ENST00000293805.5																			0				skin(1)	1						c.(262-264)ggC>ggG		B-cell CLL/lymphoma 6, member B							68.0	78.0	75.0					17																	6927486		1957	4148	6105	SO:0001819	synonymous_variant	255877					nucleus	zinc ion binding	g.chr17:6927486C>G	AI672318	CCDS42248.1	17p13.1	2014-06-10	2010-04-14		ENSG00000161940	ENSG00000161940		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1002	protein-coding gene	gene with protein product		608992	"""zinc finger protein 62"", ""B-cell CLL/lymphoma 6, member B (zinc finger protein)"""	ZNF62		9632807	Standard	NM_181844		Approved	ZBTB28, BAZF	uc010clt.1	Q8N143	OTTHUMG00000177882	ENST00000293805.5:c.264C>G	17.37:g.6927486C>G						BCL6B_ENST00000572216.1_Intron	p.G88G	NM_181844.3	NP_862827.1	Q8N143	BCL6B_HUMAN			3	356	+			88			BTB.		Q6PCB4	Silent	SNP	ENST00000293805.5	37	c.264C>G	CCDS42248.1																																																																																				0.612	BCL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439455.2	NM_181844		41	75	0	0	0	1	0	41	75				
THSD7B	80731	broad.mit.edu	37	2	138169330	138169330	+	Silent	SNP	A	A	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:138169330A>C	ENST00000409968.1	+	14	3025	c.2847A>C	c.(2845-2847)ggA>ggC	p.G949G	THSD7B_ENST00000272643.3_Silent_p.G949G|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Silent_p.G918G			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	949	TSP type-1 12. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CTCACCGAGGACTGCGGGTAC	0.483																																						ENST00000409968.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(2845-2847)ggA>ggC		thrombospondin, type I, domain containing 7B							117.0	116.0	116.0					2																	138169330		1956	4138	6094	SO:0001819	synonymous_variant	80731							g.chr2:138169330A>C			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.2847A>C	2.37:g.138169330A>C						THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Silent_p.G918G|THSD7B_ENST00000272643.3_Silent_p.G949G	p.G949G						BRCA - Breast invasive adenocarcinoma(221;0.19)	14	3025	+									Silent	SNP	ENST00000409968.1	37	c.2847A>C																																																																																					0.483	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		30	76	0	0	0	1	0	30	76				
COL11A1	1301	broad.mit.edu	37	1	103354181	103354181	+	Silent	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:103354181G>T	ENST00000370096.3	-	62	4872	c.4560C>A	c.(4558-4560)ccC>ccA	p.P1520P	COL11A1_ENST00000353414.4_Silent_p.P1481P|COL11A1_ENST00000512756.1_Silent_p.P1404P|COL11A1_ENST00000358392.2_Silent_p.P1532P	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1520	Collagen-like 8.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCTGGCCAGCGGGTCCCTGTT	0.418																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(4594-4596)ccC>ccA		collagen, type XI, alpha 1							66.0	69.0	68.0					1																	103354181		2203	4300	6503	SO:0001819	synonymous_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103354181G>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.4560C>A	1.37:g.103354181G>T						COL11A1_ENST00000353414.4_Silent_p.P1481P|COL11A1_ENST00000512756.1_Silent_p.P1404P|COL11A1_ENST00000370096.3_Silent_p.P1520P	p.P1532P	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	62	4913	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1520			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	ENST00000370096.3	37	c.4596C>A	CCDS778.1																																																																																				0.418	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		9	47	1	0	1.49906e-05	1	1.63699e-05	9	47				
FGA	2243	broad.mit.edu	37	4	155507623	155507623	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:155507623T>C	ENST00000302053.3	-	5	1036	c.958A>G	c.(958-960)Acc>Gcc	p.T320A	FGA_ENST00000403106.3_Missense_Mutation_p.T320A	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	320					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GGTTTCCAGGTTGCAGTCCCT	0.572																																					NSCLC(143;340 1922 20892 22370 48145)	ENST00000302053.3																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73						c.(958-960)Acc>Gcc		fibrinogen alpha chain	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						97.0	106.0	103.0					4																	155507623		2203	4300	6503	SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155507623T>C		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.958A>G	4.37:g.155507623T>C	ENSP00000306361:p.Thr320Ala					FGA_ENST00000403106.3_Missense_Mutation_p.T320A	p.T320A	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN			5	1036	-	all_hematologic(180;0.215)	Renal(120;0.0458)	320					A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.958A>G	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	T	5.485	0.274527	0.10403	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	T;T	0.71461	-0.57;-0.57	4.91	-9.83	0.00482	.	5.636920	0.00896	N	0.002286	T	0.48077	0.1480	L	0.34521	1.04	0.09310	N	1	B;B	0.30973	0.007;0.302	B;B	0.23574	0.003;0.047	T	0.44832	-0.9302	10	0.21014	T	0.42	.	2.4434	0.04500	0.3317:0.0661:0.3283:0.2739	.	320;320	P02671-2;P02671	.;FIBA_HUMAN	A	320	ENSP00000306361:T320A;ENSP00000385981:T320A	ENSP00000306361:T320A	T	-	1	0	FGA	155727073	0.000000	0.05858	0.000000	0.03702	0.079000	0.17450	-4.720000	0.00194	-3.381000	0.00175	-0.609000	0.04063	ACC		0.572	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		36	114	0	0	0	1	0	36	114				
CSMD3	114788	broad.mit.edu	37	8	113256715	113256715	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr8:113256715G>A	ENST00000297405.5	-	65	10554	c.10310C>T	c.(10309-10311)aCc>aTc	p.T3437I	CSMD3_ENST00000343508.3_Missense_Mutation_p.T3397I|CSMD3_ENST00000455883.2_Missense_Mutation_p.T3268I|CSMD3_ENST00000352409.3_Missense_Mutation_p.T3367I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3437	Sushi 28. {ECO:0000255|PROSITE- ProRule:PRU00302}.					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						AGGCTGACAGGTATAAATCAG	0.438										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.(10309-10311)aCc>aTc		CUB and Sushi multiple domains 3							136.0	119.0	125.0					8																	113256715		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113256715G>A	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.10310C>T	8.37:g.113256715G>A	ENSP00000297405:p.Thr3437Ile	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000455883.2_Missense_Mutation_p.T3268I|CSMD3_ENST00000352409.3_Missense_Mutation_p.T3367I|CSMD3_ENST00000343508.3_Missense_Mutation_p.T3397I	p.T3437I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			65	10554	-			3437			Sushi 28.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.10310C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.242320	0.79912	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21	5.37	5.37	0.77165	Complement control module (2);Sushi/SCR/CCP (3);	0.147488	0.43416	D	0.000574	T	0.80444	0.4624	M	0.74467	2.265	0.43724	D	0.996201	P;P;D	0.76494	0.951;0.93;0.999	P;P;D	0.72982	0.726;0.702;0.979	T	0.79845	-0.1631	10	0.45353	T	0.12	.	14.8595	0.70369	0.0:0.1431:0.8569:0.0	.	3268;3437;3397	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	I	3397;3437;2707;3268;3367	ENSP00000345799:T3397I;ENSP00000297405:T3437I;ENSP00000341558:T2707I;ENSP00000412263:T3268I;ENSP00000343124:T3367I	ENSP00000297405:T3437I	T	-	2	0	CSMD3	113325891	1.000000	0.71417	0.985000	0.45067	0.793000	0.44817	4.466000	0.60148	2.793000	0.96121	0.591000	0.81541	ACC		0.438	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		22	63	0	0	0	1	0	22	63				
PCDH10	57575	broad.mit.edu	37	4	134072306	134072306	+	Silent	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:134072306C>A	ENST00000264360.5	+	1	1837	c.1011C>A	c.(1009-1011)gcC>gcA	p.A337A	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	337	Cadherin 3. {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)		GCCCCAACGCCGTGCCTGCGC	0.607																																						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.(1009-1011)gcC>gcA		protocadherin 10							105.0	97.0	100.0					4																	134072306		2203	4300	6503	SO:0001819	synonymous_variant	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134072306C>A	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.1011C>A	4.37:g.134072306C>A							p.A337A	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	1837	+			337			Cadherin 3.		Q4W5F6|Q96SF0	Silent	SNP	ENST00000264360.5	37	c.1011C>A	CCDS34063.1																																																																																				0.607	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		25	96	1	0	1.85244e-09	1	2.25798e-09	25	96				
CFAP61	26074	broad.mit.edu	37	20	20177327	20177327	+	Silent	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr20:20177327G>A	ENST00000245957.5	+	16	1780	c.1704G>A	c.(1702-1704)cgG>cgA	p.R568R	C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		568										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CCATTTTCCGGCACTACACCA	0.468																																						ENST00000245957.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77						c.(1702-1704)cgG>cgA		chromosome 20 open reading frame 26							144.0	128.0	133.0					20																	20177327		2203	4300	6503	SO:0001819	synonymous_variant	26074							g.chr20:20177327G>A																												ENST00000245957.5:c.1704G>A	20.37:g.20177327G>A						C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR	p.R568R	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	16	1780	+			568					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Silent	SNP	ENST00000245957.5	37	c.1704G>A	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.489586	0.26686	.	.	ENSG00000089101	ENST00000431753	.	.	.	5.83	2.83	0.33086	.	.	.	.	.	T	0.53834	0.1821	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43212	-0.9405	4	.	.	.	.	5.6394	0.17554	0.2316:0.0:0.5987:0.1697	.	.	.	.	D	108	.	.	G	+	2	0	C20orf26	20125327	0.999000	0.42202	1.000000	0.80357	0.991000	0.79684	0.415000	0.21181	0.359000	0.24239	0.655000	0.94253	GGC		0.468	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			31	37	0	0	0	1	0	31	37				
ABCB4	5244	broad.mit.edu	37	7	87056134	87056134	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:87056134A>T	ENST00000265723.4	-	16	2107	c.1996T>A	c.(1996-1998)Tct>Act	p.S666T	ABCB4_ENST00000358400.3_Missense_Mutation_p.S666T|ABCB4_ENST00000359206.3_Missense_Mutation_p.S666T|ABCB4_ENST00000453593.1_Missense_Mutation_p.S666T|ABCB4_ENST00000545634.1_Missense_Mutation_p.S666T	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	666					cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	TTCTGAGTAGAATGCCTAAAT	0.383																																						ENST00000265723.4																			0				breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(1996-1998)Tct>Act		ATP-binding cassette, sub-family B (MDR/TAP), member 4							112.0	110.0	110.0					7																	87056134		2203	4300	6503	SO:0001583	missense	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87056134A>T	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.1996T>A	7.37:g.87056134A>T	ENSP00000265723:p.Ser666Thr					ABCB4_ENST00000545634.1_Missense_Mutation_p.S666T|ABCB4_ENST00000359206.3_Missense_Mutation_p.S666T|ABCB4_ENST00000358400.3_Missense_Mutation_p.S666T|ABCB4_ENST00000453593.1_Missense_Mutation_p.S666T	p.S666T	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN			16	2107	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		666					A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	c.1996T>A	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	A	11.38	1.620444	0.28801	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.88354	-2.28;-2.37;-2.33;-2.37;-2.28	4.92	4.92	0.64577	.	1.406010	0.04939	N	0.458327	D	0.89660	0.6779	M	0.67953	2.075	0.44359	D	0.99725	B;B;B	0.32620	0.017;0.378;0.26	B;B;B	0.33799	0.015;0.17;0.082	T	0.77362	-0.2616	10	0.45353	T	0.12	-16.1261	13.3069	0.60357	1.0:0.0:0.0:0.0	.	666;666;666	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	T	666	ENSP00000352135:S666T;ENSP00000351172:S666T;ENSP00000265723:S666T;ENSP00000392983:S666T;ENSP00000437465:S666T	ENSP00000265723:S666T	S	-	1	0	ABCB4	86894070	0.996000	0.38824	0.994000	0.49952	0.138000	0.21146	5.286000	0.65639	2.059000	0.61396	0.533000	0.62120	TCT		0.383	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		16	48	0	0	0	1	0	16	48				
SPATA5L1	79029	broad.mit.edu	37	15	45695581	45695581	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr15:45695581G>C	ENST00000305560.6	+	1	1053	c.954G>C	c.(952-954)gaG>gaC	p.E318D	GATM_ENST00000458245.5_5'Flank|SPATA5L1_ENST00000559860.1_Missense_Mutation_p.E318D	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	318						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		GAGCACCCGAGAGCCGCGTAG	0.697																																						ENST00000305560.6																			0				kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						c.(952-954)gaG>gaC		spermatogenesis associated 5-like 1							15.0	19.0	17.0					15																	45695581		2191	4293	6484	SO:0001583	missense	79029					cytoplasm	ATP binding|nucleoside-triphosphatase activity	g.chr15:45695581G>C	AK023232	CCDS10123.1	15q15.1	2010-04-21			ENSG00000171763	ENSG00000171763		"""ATPases / AAA-type"""	28762	protein-coding gene	gene with protein product						12477932	Standard	NM_024063		Approved	MGC5347, FLJ12286	uc001zve.3	Q9BVQ7	OTTHUMG00000131425	ENST00000305560.6:c.954G>C	15.37:g.45695581G>C	ENSP00000305494:p.Glu318Asp					SPATA5L1_ENST00000559860.1_Missense_Mutation_p.E318D	p.E318D	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)	1	1053	+		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)	318					C9JHR5|Q9H8W7|Q9HA41	Missense_Mutation	SNP	ENST00000305560.6	37	c.954G>C	CCDS10123.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.387086	0.61956	.	.	ENSG00000171763	ENST00000305560	D	0.92752	-3.1	4.67	4.67	0.58626	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.92688	0.7676	L	0.49455	1.56	0.36172	D	0.848803	D	0.55605	0.972	P	0.62491	0.903	D	0.93695	0.7010	10	0.72032	D	0.01	-18.2214	6.9882	0.24741	0.1848:0.0:0.8152:0.0	.	318	Q9BVQ7	SPA5L_HUMAN	D	318	ENSP00000305494:E318D	ENSP00000305494:E318D	E	+	3	2	SPATA5L1	43482873	1.000000	0.71417	1.000000	0.80357	0.373000	0.29922	1.589000	0.36644	2.426000	0.82243	0.580000	0.79431	GAG		0.697	SPATA5L1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254218.1	NM_024063		17	17	0	0	0	1	0	17	17				
OLFM3	118427	broad.mit.edu	37	1	102290738	102290738	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:102290738C>A	ENST00000338858.5	-	4	495	c.496G>T	c.(496-498)Gat>Tat	p.D166Y	OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000370103.4_Missense_Mutation_p.D146Y|OLFM3_ENST00000536598.1_Missense_Mutation_p.D71Y|OLFM3_ENST00000359814.3_Missense_Mutation_p.D166Y			Q96PB7	NOE3_HUMAN	olfactomedin 3	166					eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		AACTTAGCATCTGTTTTGTAC	0.448																																						ENST00000370103.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43						c.(436-438)Gat>Tat		olfactomedin 3							120.0	112.0	115.0					1																	102290738		2203	4300	6503	SO:0001583	missense	118427					extracellular region		g.chr1:102290738C>A	AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"""optimedin"""	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.496G>T	1.37:g.102290738C>A	ENSP00000345192:p.Asp166Tyr					OLFM3_ENST00000338858.5_Missense_Mutation_p.D166Y|OLFM3_ENST00000359814.3_Missense_Mutation_p.D166Y|OLFM3_ENST00000536598.1_Missense_Mutation_p.D71Y|OLFM3_ENST00000462354.1_5'UTR	p.D146Y	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)	4	649	-		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)	166					Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Missense_Mutation	SNP	ENST00000338858.5	37	c.436G>T		.	.	.	.	.	.	.	.	.	.	C	28.2	4.896347	0.91962	.	.	ENSG00000118733	ENST00000424771;ENST00000370103;ENST00000338858;ENST00000536598;ENST00000359814	D;D;T;T	0.89939	-2.56;-2.59;-0.8;-0.93	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.93772	0.8009	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.993	D	0.93675	0.6993	10	0.87932	D	0	.	20.0452	0.97606	0.0:1.0:0.0:0.0	.	146;166	Q5T3V6;Q96PB7	.;NOE3_HUMAN	Y	17;146;166;71;166	ENSP00000359121:D146Y;ENSP00000345192:D166Y;ENSP00000443471:D71Y;ENSP00000352867:D166Y	ENSP00000345192:D166Y	D	-	1	0	OLFM3	102063326	1.000000	0.71417	0.997000	0.53966	0.930000	0.56654	7.799000	0.85936	2.742000	0.94016	0.655000	0.94253	GAT		0.448	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1			5	30	1	0	0.217242	1	0.217725	5	30				
KHDRBS2	202559	broad.mit.edu	37	6	62442586	62442586	+	Splice_Site	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:62442586C>A	ENST00000281156.4	-	7	1172		c.e7+1			NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		AAATGCCTTACCTTTGTGTTT	0.373																																						ENST00000281156.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.e7+1		KH domain containing, RNA binding, signal transduction associated 2							170.0	167.0	168.0					6																	62442586		2203	4300	6503	SO:0001630	splice_region_variant	202559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr6:62442586C>A	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"""Sam68-like mammalian protein 1"""	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.893+1G>T	6.37:g.62442586C>A								NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.149)	7	1172	-								A8K7M8|Q8N4I4|Q8TCZ4	Splice_Site	SNP	ENST00000281156.4	37		CCDS4963.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.595057	0.86953	.	.	ENSG00000112232	ENST00000281156	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2952	0.87169	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KHDRBS2	62500545	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.599000	0.61076	2.822000	0.97130	0.637000	0.83480	.		0.373	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688	Intron	16	49	1	0	1.15088e-07	1	1.31737e-07	16	49				
ITIH6	347365	broad.mit.edu	37	X	54785330	54785330	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chrX:54785330T>C	ENST00000218436.6	-	8	1206	c.1177A>G	c.(1177-1179)Atc>Gtc	p.I393V		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	393	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										GTCAGGAAGATGATAAGAGGG	0.612																																						ENST00000218436.6																			0											c.(1177-1179)Atc>Gtc		inter-alpha-trypsin inhibitor heavy chain family, member 6							34.0	29.0	31.0					X																	54785330		2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54785330T>C	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.1177A>G	X.37:g.54785330T>C	ENSP00000218436:p.Ile393Val						p.I393V	NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN			8	1206	-			393			VWFA.		A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.1177A>G	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	T	11.01	1.513193	0.27123	.	.	ENSG00000102313	ENST00000218436	T	0.08008	3.14	3.76	3.76	0.43208	von Willebrand factor, type A (3);	0.068531	0.56097	U	0.000026	T	0.06600	0.0169	L	0.31578	0.945	0.31919	N	0.613636	B	0.02656	0.0	B	0.09377	0.004	T	0.10042	-1.0647	10	0.25106	T	0.35	.	10.9077	0.47090	0.0:0.0:0.0:1.0	.	393	Q6UXX5	ITH5L_HUMAN	V	393	ENSP00000218436:I393V	ENSP00000218436:I393V	I	-	1	0	ITIH5L	54802055	1.000000	0.71417	0.997000	0.53966	0.978000	0.69477	2.960000	0.49161	1.180000	0.42898	0.474000	0.43551	ATC		0.612	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		6	6	0	0	0	1	0	6	6				
STAC	6769	broad.mit.edu	37	3	36545898	36545898	+	Silent	SNP	A	A	T	rs201662677		TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:36545898A>T	ENST00000273183.3	+	7	1080	c.780A>T	c.(778-780)ccA>ccT	p.P260P	STAC_ENST00000457375.2_Silent_p.P199P|STAC_ENST00000476388.1_3'UTR	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	260					cellular response to heat (GO:0034605)|intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytosol (GO:0005829)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						TTACATATCCAGAAAATGGCA	0.373																																						ENST00000273183.3																			0				endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						c.(778-780)ccA>ccT		SH3 and cysteine rich domain							89.0	87.0	88.0					3																	36545898		2203	4300	6503	SO:0001819	synonymous_variant	6769				intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding	g.chr3:36545898A>T	D86640	CCDS2662.1	3p22.3	2007-06-08			ENSG00000144681	ENSG00000144681			11353	protein-coding gene	gene with protein product		602317	"""src homology three (SH3) and cysteine rich domain"""			8954993, 10393425	Standard	XM_006713308		Approved	STAC1	uc003cgh.1	Q99469	OTTHUMG00000130798	ENST00000273183.3:c.780A>T	3.37:g.36545898A>T						STAC_ENST00000457375.2_Silent_p.P199P|STAC_ENST00000476388.1_3'UTR	p.P260P	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN			7	1080	+			260					B2R8S8	Silent	SNP	ENST00000273183.3	37	c.780A>T	CCDS2662.1																																																																																				0.373	STAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253338.2	NM_003149		7	38	0	0	0	1	0	7	38				
PDZD2	23037	broad.mit.edu	37	5	31799682	31799682	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr5:31799682C>A	ENST00000438447.1	+	2	715	c.327C>A	c.(325-327)caC>caA	p.H109Q	PDZD2_ENST00000282493.3_Missense_Mutation_p.H109Q			O15018	PDZD2_HUMAN	PDZ domain containing 2	109	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGAAAACCCACCAGGGTCCTG	0.587																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(325-327)caC>caA		PDZ domain containing 2							66.0	73.0	71.0					5																	31799682		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:31799682C>A	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.327C>A	5.37:g.31799682C>A	ENSP00000402033:p.His109Gln					PDZD2_ENST00000282493.3_Missense_Mutation_p.H109Q	p.H109Q			O15018	PDZD2_HUMAN			2	715	+			109			PDZ 1.		Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.327C>A	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.697793	0.48307	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.63744	-0.06;-0.06	5.52	4.64	0.57946	PDZ/DHR/GLGF (3);	0.000000	0.48767	D	0.000177	T	0.36138	0.0956	N	0.03608	-0.345	0.34836	D	0.740152	P	0.35272	0.493	B	0.28991	0.097	T	0.52403	-0.8580	10	0.41790	T	0.15	.	12.8166	0.57669	0.0:0.6855:0.3145:0.0	.	109	O15018	PDZD2_HUMAN	Q	109	ENSP00000402033:H109Q;ENSP00000282493:H109Q	ENSP00000282493:H109Q	H	+	3	2	PDZD2	31835439	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.756000	0.26419	1.311000	0.45024	0.655000	0.94253	CAC		0.587	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			17	63	1	0	4.7546e-09	1	5.7182e-09	17	63				
IGLC2	3538	broad.mit.edu	37	22	23243367	23243367	+	RNA	SNP	T	T	C	rs8033		TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr22:23243367T>C	ENST00000390323.2	+	0	212				IGLJ2_ENST00000390322.2_RNA			P0CG05	LAC2_HUMAN	immunoglobulin lambda constant 2 (Kern-Oz- marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										CCAGCAGCTATCTGAGCCTGA	0.587																																						ENST00000390323.2																			0																				76.0	81.0	79.0					22																	23243367		2072	4132	6204			3538							g.chr22:23243367T>C	J00253		22q11.2	2012-02-08			ENSG00000211677	ENSG00000211677		"""Immunoglobulins / IGL locus"""	5856	other	immunoglobulin gene				IGLC			Standard	NG_000002		Approved			P0CG05	OTTHUMG00000151214		22.37:g.23243367T>C														0	212	+								A0M8Q4|P80423	RNA	SNP	ENST00000390323.2	37																																																																																						0.587	IGLC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000321818.3	NG_000002		4	52	0	0	0	1	0	4	52				
PAPPA2	60676	broad.mit.edu	37	1	176671756	176671756	+	Nonsense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:176671756G>T	ENST00000367662.3	+	9	4414	c.3250G>T	c.(3250-3252)Gga>Tga	p.G1084*		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1084					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGTCACACCTGGACAGATGTA	0.502																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(3250-3252)Gga>Tga		pappalysin 2							78.0	75.0	76.0					1																	176671756		1947	4144	6091	SO:0001587	stop_gained	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176671756G>T	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.3250G>T	1.37:g.176671756G>T	ENSP00000356634:p.Gly1084*						p.G1084*	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			9	4414	+			1084					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Nonsense_Mutation	SNP	ENST00000367662.3	37	c.3250G>T	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	50	17.206006	0.99881	.	.	ENSG00000116183	ENST00000367662	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-21.4129	18.4543	0.90714	0.0:0.0:1.0:0.0	.	.	.	.	X	1084	.	ENSP00000356634:G1084X	G	+	1	0	PAPPA2	174938379	1.000000	0.71417	0.994000	0.49952	0.836000	0.47400	4.525000	0.60559	2.444000	0.82710	0.563000	0.77884	GGA		0.502	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			10	32	1	0	0.00621372	1	0.00638357	10	32				
HECTD2	143279	broad.mit.edu	37	10	93221100	93221100	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr10:93221100A>T	ENST00000298068.5	+	4	591	c.497A>T	c.(496-498)aAt>aTt	p.N166I	HECTD2_ENST00000536715.1_5'Flank|HECTD2_ENST00000371681.4_Missense_Mutation_p.N166I|HECTD2_ENST00000446394.1_Missense_Mutation_p.N166I	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	166					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						CCAGAATTAAATGCTGCATTT	0.274																																					NSCLC(12;376 469 1699 39910 41417)	ENST00000446394.1																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						c.(496-498)aAt>aTt		HECT domain containing E3 ubiquitin protein ligase 2							82.0	96.0	91.0					10																	93221100		2201	4289	6490	SO:0001583	missense	143279				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr10:93221100A>T	AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"""HECT domain containing 2"""			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.497A>T	10.37:g.93221100A>T	ENSP00000298068:p.Asn166Ile					HECTD2_ENST00000371681.4_Missense_Mutation_p.N166I|HECTD2_ENST00000298068.5_Missense_Mutation_p.N166I	p.N166I			Q5U5R9	HECD2_HUMAN			4	597	+			166					Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Missense_Mutation	SNP	ENST00000298068.5	37	c.497A>T	CCDS7414.1	.	.	.	.	.	.	.	.	.	.	A	15.33	2.802300	0.50315	.	.	ENSG00000165338	ENST00000446394;ENST00000371681;ENST00000298068	T;T;T	0.53857	1.05;0.6;1.02	5.1	2.4	0.29515	.	0.107871	0.64402	D	0.000010	T	0.59459	0.2195	L	0.59436	1.845	0.80722	D	1	B;B;D	0.57571	0.437;0.437;0.98	B;B;P	0.56700	0.203;0.203;0.804	T	0.61647	-0.7020	10	0.72032	D	0.01	.	9.9773	0.41791	0.8318:0.0:0.1682:0.0	.	166;166;166	E7ERR3;Q5U5R9;Q5VZ98	.;HECD2_HUMAN;.	I	166	ENSP00000401023:N166I;ENSP00000360746:N166I;ENSP00000298068:N166I	ENSP00000298068:N166I	N	+	2	0	HECTD2	93211080	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.059000	0.57470	0.790000	0.33803	0.383000	0.25322	AAT		0.274	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1			37	93	0	0	0	1	0	37	93				
ZIM3	114026	broad.mit.edu	37	19	57646302	57646302	+	Missense_Mutation	SNP	C	C	A	rs539722568		TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:57646302C>A	ENST00000269834.1	-	5	1788	c.1403G>T	c.(1402-1404)aGa>aTa	p.R468I	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	468					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)	p.R468I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGAGTGAATTCTTTTCTGGTG	0.423																																						ENST00000269834.1																			1	Substitution - Missense(1)	p.R468I(1)	large_intestine(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52						c.(1402-1404)aGa>aTa		zinc finger, imprinted 3							110.0	109.0	109.0					19																	57646302		2203	4300	6503	SO:0001583	missense	114026				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57646302C>A	AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"""Zinc fingers, C2H2-type"", ""-"""	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.1403G>T	19.37:g.57646302C>A	ENSP00000269834:p.Arg468Ile						p.R468I	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1788	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)	468					Q14CA6	Missense_Mutation	SNP	ENST00000269834.1	37	c.1403G>T	CCDS33125.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.229992	0.39399	.	.	ENSG00000141946	ENST00000269834	T	0.05925	3.37	2.12	1.06	0.20224	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09992	0.0245	M	0.82193	2.58	0.39476	D	0.967801	B	0.17852	0.024	B	0.11329	0.006	T	0.03403	-1.1040	9	0.56958	D	0.05	.	6.7666	0.23571	0.0:0.8413:0.0:0.1587	.	468	Q96PE6	ZIM3_HUMAN	I	468	ENSP00000269834:R468I	ENSP00000269834:R468I	R	-	2	0	ZIM3	62338114	0.001000	0.12720	0.387000	0.26183	0.407000	0.30961	0.466000	0.22019	0.438000	0.26450	0.313000	0.20887	AGA		0.423	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1			15	74	1	0	3.27435e-08	1	3.83567e-08	15	74				
IL12RB2	3595	broad.mit.edu	37	1	67861294	67861294	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:67861294C>A	ENST00000262345.1	+	16	2751	c.2111C>A	c.(2110-2112)cCg>cAg	p.P704Q	IL12RB2_ENST00000371000.1_3'UTR|IL12RB2_ENST00000541374.1_3'UTR|IL12RB2_ENST00000465396.1_3'UTR|IL12RB2_ENST00000544434.1_Missense_Mutation_p.P618Q	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	704					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						GATCCTGAACCGCTGGTCATC	0.542																																						ENST00000262345.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						c.(2110-2112)cCg>cAg		interleukin 12 receptor, beta 2							79.0	83.0	82.0					1																	67861294		2203	4300	6503	SO:0001583	missense	3595				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	g.chr1:67861294C>A	U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.2111C>A	1.37:g.67861294C>A	ENSP00000262345:p.Pro704Gln					IL12RB2_ENST00000541374.1_3'UTR|IL12RB2_ENST00000544434.1_Missense_Mutation_p.P618Q|IL12RB2_ENST00000371000.1_3'UTR|IL12RB2_ENST00000465396.1_3'UTR	p.P704Q	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN			16	2751	+			704					B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Missense_Mutation	SNP	ENST00000262345.1	37	c.2111C>A	CCDS638.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.377440	0.42105	.	.	ENSG00000081985	ENST00000262345;ENST00000544434	T;T	0.42131	0.98;1.82	5.11	4.2	0.49525	.	0.404030	0.27787	N	0.017850	T	0.41073	0.1143	L	0.51422	1.61	0.80722	D	1	D;D	0.76494	0.999;0.986	D;P	0.74023	0.982;0.769	T	0.25117	-1.0141	10	0.26408	T	0.33	-8.1519	9.8283	0.40925	0.0:0.9039:0.0:0.0961	.	618;704	F5H7L6;Q99665	.;I12R2_HUMAN	Q	704;618	ENSP00000262345:P704Q;ENSP00000442443:P618Q	ENSP00000262345:P704Q	P	+	2	0	IL12RB2	67633882	0.816000	0.29132	0.988000	0.46212	0.112000	0.19704	1.372000	0.34261	1.285000	0.44548	0.561000	0.74099	CCG		0.542	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559		15	50	1	0	2.31682e-05	1	2.49376e-05	15	50				
BACH2	60468	broad.mit.edu	37	6	90660481	90660481	+	Silent	SNP	A	A	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:90660481A>G	ENST00000257749.4	-	7	2051	c.1344T>C	c.(1342-1344)taT>taC	p.Y448Y	RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000537989.1_Silent_p.Y448Y|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000343122.3_Silent_p.Y448Y	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	448						cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		TCACCCCAGAATAAGAATGCA	0.607																																						ENST00000257749.4																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45						c.(1342-1344)taT>taC		BTB and CNC homology 1, basic leucine zipper transcription factor 2							44.0	49.0	48.0					6																	90660481		2203	4300	6503	SO:0001819	synonymous_variant	60468					nucleus	protein dimerization activity|sequence-specific DNA binding	g.chr6:90660481A>G	AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.1344T>C	6.37:g.90660481A>G						RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000537989.1_Silent_p.Y448Y|BACH2_ENST00000343122.3_Silent_p.Y448Y|RP3-512E2.2_ENST00000413986.1_RNA	p.Y448Y	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0799)	7	2051	-		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)	448					E1P518|Q59H70|Q5T793|Q9NTS5	Silent	SNP	ENST00000257749.4	37	c.1344T>C	CCDS5026.1																																																																																				0.607	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	NM_021813		19	55	0	0	0	1	0	19	55				
TMEM200C	645369	broad.mit.edu	37	18	5891793	5891793	+	Silent	SNP	C	C	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr18:5891793C>G	ENST00000581347.2	-	3	915	c.270G>C	c.(268-270)ccG>ccC	p.P90P	TMEM200C_ENST00000383490.2_Silent_p.P90P|RP11-945C19.4_ENST00000582939.1_RNA|RP11-945C19.4_ENST00000580845.1_RNA|RP11-945C19.4_ENST00000577694.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C	90						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						TGCCCGCAGGCGGCAGCTGCT	0.672																																						ENST00000581347.1																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						c.(268-270)ccG>ccC		transmembrane protein 200C							31.0	39.0	37.0					18																	5891793		1960	4143	6103	SO:0001819	synonymous_variant	645369					integral to membrane		g.chr18:5891793C>G		CCDS45825.1	18p11.31	2009-09-08			ENSG00000206432	ENSG00000206432			37208	protein-coding gene	gene with protein product						15722956	Standard	NM_001080209		Approved	TTMA	uc002kmx.1	A6NKL6		ENST00000581347.2:c.270G>C	18.37:g.5891793C>G						TMEM200C_ENST00000383490.2_Silent_p.P90P|RP11-945C19.4_ENST00000577694.1_RNA	p.P90P			A6NKL6	T200C_HUMAN			3	915	-			90						Silent	SNP	ENST00000581347.2	37	c.270G>C	CCDS45825.1																																																																																				0.672	TMEM200C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441917.4	NM_001080209		20	20	0	0	0	1	0	20	20				
PTPRM	5797	broad.mit.edu	37	18	7955363	7955363	+	Silent	SNP	T	T	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr18:7955363T>A	ENST00000332175.8	+	7	2120	c.1083T>A	c.(1081-1083)ggT>ggA	p.G361G	PTPRM_ENST00000580170.1_Silent_p.G361G|PTPRM_ENST00000400053.4_Silent_p.G299G|PTPRM_ENST00000400060.4_Silent_p.G361G|PTPRM_ENST00000444013.1_Silent_p.G148G	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	361	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CAGGGGAGGGTGGCACTGGCT	0.498																																						ENST00000332175.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90						c.(1081-1083)ggT>ggA		protein tyrosine phosphatase, receptor type, M							57.0	59.0	58.0					18																	7955363		2203	4300	6503	SO:0001819	synonymous_variant	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:7955363T>A	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.1083T>A	18.37:g.7955363T>A						PTPRM_ENST00000400060.4_Silent_p.G361G|PTPRM_ENST00000400053.4_Silent_p.G299G|PTPRM_ENST00000444013.1_Silent_p.G148G|PTPRM_ENST00000580170.1_Silent_p.G361G	p.G361G	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN			7	2120	+		Colorectal(10;0.234)	361			Fibronectin type-III 1.		A7MBN1|D3DUH8|J3QL11	Silent	SNP	ENST00000332175.8	37	c.1083T>A	CCDS11840.1																																																																																				0.498	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			22	21	0	0	0	1	0	22	21				
IQCB1	9657	broad.mit.edu	37	3	121500720	121500720	+	Splice_Site	SNP	G	G	A	rs138646990	byFrequency	TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:121500720G>A	ENST00000310864.6	-	13	1494	c.1280C>T	c.(1279-1281)gCg>gTg	p.A427V	IQCB1_ENST00000349820.6_Splice_Site_p.A294V	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	427	IQ 4. {ECO:0000255|PROSITE- ProRule:PRU00116}.				cilium assembly (GO:0042384)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)	calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		GAATTTAAGCGCCTGGAAGAA	0.388																																						ENST00000310864.6																			0				NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30						c.e13-1		IQ motif containing B1							71.0	73.0	72.0					3																	121500720		2203	4300	6503	SO:0001630	splice_region_variant	9657				cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding	g.chr3:121500720G>A	D25278	CCDS33836.1, CCDS33837.1	3q21.1	2014-01-28	2004-09-02		ENSG00000173226	ENSG00000173226			28949	protein-coding gene	gene with protein product	"""nephrocystin-5"""	609237	"""IQ calmodulin-binding motif containing 1"""			15723066	Standard	NM_001023571		Approved	KIAA0036, NPHP5, SLSN5	uc010hre.1	Q15051	OTTHUMG00000128677	ENST00000310864.6:c.1279-1C>T	3.37:g.121500720G>A						IQCB1_ENST00000349820.6_Splice_Site_p.A294_splice	p.A427_splice	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0983)	13	1494	-			427			IQ 4.		Q3KS08|Q3KS09|Q5DKQ7|Q8NI79|Q9BS08	Splice_Site	SNP	ENST00000310864.6	37	c.1278_splice	CCDS33837.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.836885	0.00579	.	.	ENSG00000173226	ENST00000310864;ENST00000349820	T;T	0.70516	-0.49;-0.49	4.8	1.84	0.25277	.	0.318083	0.33057	N	0.005333	T	0.48572	0.1507	N	0.25647	0.755	0.30863	N	0.733311	B;B	0.18013	0.002;0.025	B;B	0.17433	0.002;0.018	T	0.35699	-0.9778	10	0.10902	T	0.67	0.0101	5.4158	0.16374	0.42:0.0:0.58:0.0	.	427;294	Q15051;Q15051-2	IQCB1_HUMAN;.	V	427;294	ENSP00000311505:A427V;ENSP00000323756:A294V	ENSP00000311505:A427V	A	-	2	0	IQCB1	122983410	0.994000	0.37717	0.503000	0.27626	0.063000	0.16089	0.653000	0.24902	0.161000	0.19458	-0.218000	0.12543	GCG		0.388	IQCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250573.1	NM_014642	Missense_Mutation	19	49	0	0	0	1	0	19	49				
DMD	1756	broad.mit.edu	37	X	32519917	32519917	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chrX:32519917C>A	ENST00000357033.4	-	19	2541	c.2335G>T	c.(2335-2337)Gat>Tat	p.D779Y	DMD_ENST00000378677.2_Missense_Mutation_p.D775Y	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	779					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTGCTGGCATCTTGCAGTTTT	0.413																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(2335-2337)Gat>Tat		dystrophin							99.0	80.0	87.0					X																	32519917		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32519917C>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.2335G>T	X.37:g.32519917C>A	ENSP00000354923:p.Asp779Tyr					DMD_ENST00000378677.2_Missense_Mutation_p.D775Y	p.D779Y	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			19	2541	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	779					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.2335G>T	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.109785	0.77096	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.51817	0.69;0.69	5.35	5.35	0.76521	.	0.000000	0.35903	U	0.002919	T	0.66733	0.2819	L	0.60455	1.87	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.77004	0.982;0.972;0.989	T	0.69617	-0.5097	10	0.72032	D	0.01	.	18.2209	0.89901	0.0:1.0:0.0:0.0	.	771;779;775	P11532-4;P11532;E9PDN5	.;DMD_HUMAN;.	Y	771;775;779;779;656	ENSP00000367948:D775Y;ENSP00000354923:D779Y	ENSP00000354923:D779Y	D	-	1	0	DMD	32429838	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.013000	0.70776	2.241000	0.73720	0.544000	0.68410	GAT		0.413	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		8	6	1	0	0.000274275	1	0.00028767	8	6				
RALGAPA1	253959	broad.mit.edu	37	14	36128345	36128345	+	Splice_Site	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr14:36128345G>A	ENST00000389698.3	-	27	4258	c.3868C>T	c.(3868-3870)Cga>Tga	p.R1290*	RALGAPA1_ENST00000382366.3_Splice_Site_p.R1303*|RALGAPA1_ENST00000307138.6_Splice_Site_p.R1290*|RALGAPA1_ENST00000258840.6_Splice_Site_p.R1337*	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1290					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCGACCTACCGTGCAGGACCA	0.373																																						ENST00000258840.6																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.e28+1		Ral GTPase activating protein, alpha subunit 1 (catalytic)							64.0	61.0	62.0					14																	36128345		2202	4300	6502	SO:0001630	splice_region_variant	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36128345G>A	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.3869+1C>T	14.37:g.36128345G>A						RALGAPA1_ENST00000382366.3_Splice_Site_p.R1303_splice|RALGAPA1_ENST00000307138.6_Splice_Site_p.R1290_splice|RALGAPA1_ENST00000389698.3_Splice_Site_p.R1290_splice	p.R1337_splice			Q6GYQ0	RGPA1_HUMAN			28	4399	-			1290			Minimal domain that binds to TCF3/E12 (By similarity).		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Splice_Site	SNP	ENST00000389698.3	37	c.4010_splice	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	G	46	12.461373	0.99670	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	.	.	.	5.81	4.85	0.62838	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.1273	13.7115	0.62672	0.0:0.0:0.7149:0.2851	.	.	.	.	X	1290;1290;1290;1337;1303;1337	.	ENSP00000258840:R1337X	R	-	1	2	RALGAPA1	35198096	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.030000	0.49720	2.756000	0.94617	0.655000	0.94253	CGA		0.373	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022	Nonsense_Mutation	15	31	0	0	0	1	0	15	31				
ZNF365	22891	broad.mit.edu	37	10	64415348	64415348	+	Silent	SNP	C	C	G	rs150729144		TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr10:64415348C>G	ENST00000395251.1	+	4	682	c.348C>G	c.(346-348)tcC>tcG	p.S116S	ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000395249.1_Intron|AC067751.1_ENST00000579246.1_RNA	NM_199452.3	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365	116										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					GTGGTCTCTCCGAGCTCATCA	0.502																																						ENST00000395251.1																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(346-348)tcC>tcG		zinc finger protein 365							111.0	92.0	99.0					10																	64415348		2203	4300	6503	SO:0001819	synonymous_variant	22891							g.chr10:64415348C>G	AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"""Zinc fingers, C2H2-type"""	18194	protein-coding gene	gene with protein product	"""Talanin"""	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395251.1:c.348C>G	10.37:g.64415348C>G						ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000395249.1_Intron	p.S116S	NM_199452.3	NP_955524.3	Q70YC4	TALAN_HUMAN			4	682	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		116						Silent	SNP	ENST00000395251.1	37	c.348C>G	CCDS7265.1																																																																																				0.502	ZNF365-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277036.1	NM_014951		18	50	0	0	0	1	0	18	50				
ZFHX4	79776	broad.mit.edu	37	8	77764098	77764098	+	Silent	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr8:77764098G>A	ENST00000521891.2	+	10	5389	c.4941G>A	c.(4939-4941)caG>caA	p.Q1647Q	ZFHX4_ENST00000455469.2_Silent_p.Q1602Q|ZFHX4_ENST00000050961.6_Silent_p.Q1602Q|ZFHX4_ENST00000518282.1_Silent_p.Q1621Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1602	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCCCTGGCCAGGGGATGTTAG	0.473										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(4939-4941)caG>caA		zinc finger homeobox 4							71.0	69.0	70.0					8																	77764098		1923	4134	6057	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77764098G>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.4941G>A	8.37:g.77764098G>A		HNSCC(33;0.089)				ZFHX4_ENST00000518282.1_Silent_p.Q1621Q|ZFHX4_ENST00000455469.2_Silent_p.Q1602Q|ZFHX4_ENST00000050961.6_Silent_p.Q1602Q	p.Q1647Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	5389	+			1602			Gln-rich.		G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.4941G>A	CCDS47878.2																																																																																				0.473	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		15	65	0	0	0	1	0	15	65				
ZNF654	55279	broad.mit.edu	37	3	88189924	88189924	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:88189924A>C	ENST00000309495.5	+	1	1671	c.1464A>C	c.(1462-1464)gaA>gaC	p.E488D	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	488					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		TGACAAGTGAACATACTTCAT	0.413																																						ENST00000309495.5																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12						c.(1462-1464)gaA>gaC		zinc finger protein 654							138.0	128.0	132.0					3																	88189924		1893	4107	6000	SO:0001583	missense	55279				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:88189924A>C	AF543494	CCDS46874.1	3p11.1	2005-01-10			ENSG00000175105	ENSG00000175105			25612	protein-coding gene	gene with protein product							Standard	NM_018293		Approved	FLJ10997, FLJ21142	uc003dqv.3	Q8IZM8	OTTHUMG00000159097	ENST00000309495.5:c.1464A>C	3.37:g.88189924A>C	ENSP00000312141:p.Glu488Asp					CGGBP1_ENST00000462901.1_Intron	p.E488D	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)	1	1671	+		Lung NSC(201;0.0283)	488					Q9H791|Q9NV14	Missense_Mutation	SNP	ENST00000309495.5	37	c.1464A>C	CCDS46874.1	.	.	.	.	.	.	.	.	.	.	a	16.28	3.079701	0.55753	.	.	ENSG00000175105	ENST00000309495	T	0.12984	2.63	5.33	4.14	0.48551	.	.	.	.	.	T	0.08626	0.0214	N	0.24115	0.695	0.25640	N	0.986219	B	0.32071	0.355	B	0.28638	0.092	T	0.30001	-0.9993	9	0.36615	T	0.2	.	6.4959	0.22142	0.7602:0.1573:0.0825:0.0	.	488	Q8IZM8	ZN654_HUMAN	D	488	ENSP00000312141:E488D	ENSP00000312141:E488D	E	+	3	2	ZNF654	88272614	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.189000	0.50965	0.816000	0.34421	0.468000	0.43344	GAA		0.413	ZNF654-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353285.2	NM_018293		17	90	0	0	0	1	0	17	90				
ANK2	287	broad.mit.edu	37	4	114179511	114179511	+	Silent	SNP	T	T	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:114179511T>C	ENST00000357077.4	+	13	1383	c.1330T>C	c.(1330-1332)Ttg>Ctg	p.L444L	ANK2_ENST00000506722.1_Silent_p.L423L|ANK2_ENST00000394537.3_Silent_p.L444L|ANK2_ENST00000264366.6_Silent_p.L444L	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	444					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CATGGGCCACTTGAACATTGT	0.532																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(1330-1332)Ttg>Ctg		ankyrin 2, neuronal							151.0	138.0	142.0					4																	114179511		2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114179511T>C	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.1330T>C	4.37:g.114179511T>C						ANK2_ENST00000264366.6_Silent_p.L444L|ANK2_ENST00000394537.3_Silent_p.L444L|ANK2_ENST00000506722.1_Silent_p.L423L	p.L444L	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	13	1383	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	444					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.1330T>C	CCDS3702.1																																																																																				0.532	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		33	69	0	0	0	1	0	33	69				
CDON	50937	broad.mit.edu	37	11	125871614	125871614	+	Splice_Site	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr11:125871614C>T	ENST00000392693.3	-	11	2285	c.2158G>A	c.(2158-2160)Gtt>Att	p.V720I	CDON_ENST00000263577.7_Splice_Site_p.V720I|CDON_ENST00000531738.1_Splice_Site_p.V97I	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	720					anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TTCTTTTTACCTCCACTGTGC	0.408																																						ENST00000392693.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						c.e11+1		cell adhesion associated, oncogene regulated							75.0	74.0	74.0					11																	125871614		2201	4299	6500	SO:0001630	splice_region_variant	50937				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding	g.chr11:125871614C>T	AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17104	protein-coding gene	gene with protein product	"""cell adhesion molecule-related/down-regulated by oncogenes"""	608707	"""Cdon homolog (mouse)"""			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.2158+1G>A	11.37:g.125871614C>T						CDON_ENST00000531738.1_Splice_Site_p.V97_splice|CDON_ENST00000263577.7_Splice_Site_p.V720_splice	p.V720_splice	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)	11	2285	-	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	720					O14631	Splice_Site	SNP	ENST00000392693.3	37	c.2158_splice	CCDS58192.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.382591	0.61845	.	.	ENSG00000064309	ENST00000392693;ENST00000531738;ENST00000263577	T;T;T	0.55930	0.49;0.49;0.49	5.07	5.07	0.68467	.	0.000000	0.48286	D	0.000186	T	0.60117	0.2244	L	0.36672	1.1	0.53005	D	0.999969	D;D;B	0.63880	0.988;0.993;0.204	P;P;B	0.58454	0.695;0.839;0.17	T	0.55153	-0.8185	9	.	.	.	-22.9395	18.9966	0.92815	0.0:1.0:0.0:0.0	.	720;720;97	Q4KMG0;Q4KMG0-2;E9PN78	CDON_HUMAN;.;.	I	720;97;720	ENSP00000376458:V720I;ENSP00000432901:V97I;ENSP00000263577:V720I	.	V	-	1	0	CDON	125376824	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	5.066000	0.64351	2.793000	0.96121	0.655000	0.94253	GTT		0.408	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2	NM_016952	Missense_Mutation	18	32	0	0	0	1	0	18	32				
PLXNA1	5361	broad.mit.edu	37	3	126733570	126733570	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:126733570G>A	ENST00000393409.2	+	13	2773	c.2773G>A	c.(2773-2775)Ggg>Agg	p.G925R	PLXNA1_ENST00000251772.4_Missense_Mutation_p.G902R	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	925	IPT/TIG 1.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CTGTGAGATCGGGGACGCCAG	0.701																																						ENST00000393409.2																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(2773-2775)Ggg>Agg		plexin A1							46.0	38.0	40.0					3																	126733570		2203	4297	6500	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126733570G>A	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.2773G>A	3.37:g.126733570G>A	ENSP00000377061:p.Gly925Arg					PLXNA1_ENST00000251772.4_Missense_Mutation_p.G902R	p.G925R	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	13	2773	+			925			IPT/TIG 1.			Missense_Mutation	SNP	ENST00000393409.2	37	c.2773G>A	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	G	17.06	3.293507	0.60086	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.76448	-1.02;-1.02	4.21	3.34	0.38264	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.185108	0.37623	N	0.002006	T	0.78773	0.4336	L	0.55213	1.73	0.26230	N	0.979029	P	0.48503	0.911	P	0.53266	0.722	T	0.70171	-0.4945	10	0.56958	D	0.05	.	8.796	0.34878	0.1736:0.0:0.8264:0.0	.	925	Q9UIW2	PLXA1_HUMAN	R	925;902	ENSP00000377061:G925R;ENSP00000251772:G902R	ENSP00000251772:G902R	G	+	1	0	PLXNA1	128216260	0.850000	0.29656	0.995000	0.50966	0.774000	0.43823	2.061000	0.41403	0.993000	0.38866	0.484000	0.47621	GGG		0.701	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		5	12	0	0	0	1	0	5	12				
KCNH3	23416	broad.mit.edu	37	12	49936579	49936579	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr12:49936579G>C	ENST00000257981.6	+	4	796	c.536G>C	c.(535-537)gGg>gCg	p.G179A	KCNH3_ENST00000550434.1_3'UTR	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	179					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CACCTGTCCGGGCACCTGCAG	0.652																																						ENST00000257981.6																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(535-537)gGg>gCg		potassium voltage-gated channel, subfamily H (eag-related), member 3							23.0	23.0	23.0					12																	49936579		2201	4299	6500	SO:0001583	missense	23416				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	g.chr12:49936579G>C	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.536G>C	12.37:g.49936579G>C	ENSP00000257981:p.Gly179Ala					KCNH3_ENST00000550434.1_3'UTR	p.G179A	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN			4	796	+			179					Q9UQ06	Missense_Mutation	SNP	ENST00000257981.6	37	c.536G>C	CCDS8786.1	.	.	.	.	.	.	.	.	.	.	G	33	5.243437	0.95272	.	.	ENSG00000135519	ENST00000257981	D	0.98732	-5.1	4.56	4.56	0.56223	.	0.000000	0.47852	D	0.000214	D	0.97498	0.9181	M	0.62723	1.935	0.58432	D	0.999991	P	0.46220	0.874	B	0.42555	0.391	D	0.97665	1.0163	10	0.51188	T	0.08	.	15.2394	0.73455	0.0:0.0:1.0:0.0	.	179	Q9ULD8	KCNH3_HUMAN	A	179	ENSP00000257981:G179A	ENSP00000257981:G179A	G	+	2	0	KCNH3	48222846	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.187000	0.77730	2.559000	0.86315	0.655000	0.94253	GGG		0.652	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284		3	2	0	0	0	1	0	3	2				
CFTR	1080	broad.mit.edu	37	7	117251690	117251690	+	Silent	SNP	T	T	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:117251690T>A	ENST00000003084.6	+	20	3327	c.3195T>A	c.(3193-3195)ctT>ctA	p.L1065L	CFTR_ENST00000454343.1_Silent_p.L1004L|AC000111.6_ENST00000456270.1_RNA	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1065	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.		L -> P (in CF). {ECO:0000269|PubMed:7522211}.|L -> R (in CF). {ECO:0000269|PubMed:9452054}.		cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	TATGGACACTTCGTGCCTTCG	0.413									Cystic Fibrosis																													ENST00000003084.6																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69						c.(3193-3195)ctT>ctA		cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	Bumetanide(DB00887)|Glibenclamide(DB01016)						95.0	85.0	89.0					7																	117251690		2203	4300	6503	SO:0001819	synonymous_variant	1080	Cystic Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117251690T>A	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.3195T>A	7.37:g.117251690T>A						CFTR_ENST00000454343.1_Silent_p.L1004L|AC000111.6_ENST00000456270.1_RNA	p.L1065L	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		20	3327	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		1065		L -> P (in CF).|L -> R (in CF).	ABC transmembrane type-1 2.		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Silent	SNP	ENST00000003084.6	37	c.3195T>A	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	T	10.49	1.365118	0.24684	.	.	ENSG00000001626	ENST00000468795	.	.	.	5.69	-2.56	0.06268	.	.	.	.	.	T	0.40094	0.1103	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37337	-0.9710	4	.	.	.	-18.4779	2.4041	0.04408	0.0976:0.3001:0.2532:0.349	.	.	.	.	Y	7	.	.	F	+	2	0	CFTR	117038926	0.686000	0.27661	1.000000	0.80357	0.998000	0.95712	-0.291000	0.08343	0.113000	0.18004	0.533000	0.62120	TTC		0.413	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		11	28	0	0	0	1	0	11	28				
LTK	4058	broad.mit.edu	37	15	41801279	41801279	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr15:41801279C>A	ENST00000263800.6	-	8	1142	c.1046G>T	c.(1045-1047)gGa>gTa	p.G349V	LTK_ENST00000561619.1_Missense_Mutation_p.G31V|LTK_ENST00000453182.2_Missense_Mutation_p.G288V|LTK_ENST00000355166.5_Missense_Mutation_p.G288V	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	349					cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		GAAGGATACTCCATCTTCCCC	0.577										TSP Lung(18;0.14)																												ENST00000263800.6																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26						c.(1045-1047)gGa>gTa		leukocyte receptor tyrosine kinase							105.0	100.0	101.0					15																	41801279		2203	4300	6503	SO:0001583	missense	4058				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:41801279C>A	D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"""leukocyte tyrosine kinase"""			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.1046G>T	15.37:g.41801279C>A	ENSP00000263800:p.Gly349Val	TSP Lung(18;0.14)				LTK_ENST00000453182.2_Missense_Mutation_p.G288V|LTK_ENST00000355166.5_Missense_Mutation_p.G288V|LTK_ENST00000561619.1_Missense_Mutation_p.G31V	p.G349V	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)	8	1142	-		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)	349					A6NNJ8|B4DL89|E9PFX4	Missense_Mutation	SNP	ENST00000263800.6	37	c.1046G>T	CCDS10077.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.511012	0.64522	.	.	ENSG00000062524	ENST00000360087;ENST00000355166;ENST00000263800;ENST00000453182	D;T;D	0.95377	-2.86;-1.39;-3.69	4.95	0.677	0.17964	.	0.000000	0.33875	U	0.004462	D	0.97031	0.9030	M	0.86864	2.845	0.44798	D	0.997805	P;D;D;D	0.89917	0.817;0.998;1.0;1.0	B;D;D;D	0.97110	0.401;0.95;1.0;1.0	D	0.94954	0.8102	10	0.87932	D	0	.	6.2774	0.20989	0.0:0.6388:0.1309:0.2303	.	288;288;288;349	E9PFX4;B4DL89;P29376-4;P29376	.;.;.;LTK_HUMAN	V	349;288;349;288	ENSP00000347293:G288V;ENSP00000263800:G349V;ENSP00000392196:G288V	ENSP00000263800:G349V	G	-	2	0	LTK	39588571	0.994000	0.37717	0.122000	0.21767	0.991000	0.79684	3.158000	0.50723	-0.029000	0.13827	0.491000	0.48974	GGA		0.577	LTK-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252690.2			6	39	1	0	3.59834e-05	1	3.86393e-05	6	39				
KY	339855	broad.mit.edu	37	3	134348510	134348510	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:134348510G>A	ENST00000423778.2	-	4	351	c.290C>T	c.(289-291)cCt>cTt	p.P97L	KY_ENST00000503669.1_Missense_Mutation_p.P97L|KY_ENST00000508956.1_Missense_Mutation_p.P76L|KY_ENST00000508041.1_5'Flank	NM_178554.4	NP_848649.3	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	97					muscle organ development (GO:0007517)|neuromuscular junction development (GO:0007528)	cytoskeleton (GO:0005856)|Z disc (GO:0030018)	peptidase activity (GO:0008233)			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						GGCATCTCGAGGGTGGACTTC	0.507																																						ENST00000508956.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						c.(226-228)cCt>cTt		kyphoscoliosis peptidase							81.0	83.0	82.0					3																	134348510		2010	4195	6205	SO:0001583	missense	339855					cytoskeleton|Z disc	peptidase activity	g.chr3:134348510G>A	AK090526	CCDS46920.1	3q22.1	2010-11-23			ENSG00000174611	ENSG00000174611			26576	protein-coding gene	gene with protein product		605739					Standard	NM_178554		Approved	FLJ33207	uc010hty.3	Q8NBH2	OTTHUMG00000159788	ENST00000423778.2:c.290C>T	3.37:g.134348510G>A	ENSP00000397598:p.Pro97Leu					KY_ENST00000503669.1_Missense_Mutation_p.P97L|KY_ENST00000423778.2_Missense_Mutation_p.P97L	p.P76L			Q8NBH2	KY_HUMAN			3	284	-			97					B7Z1S4|Q6ZT15	Missense_Mutation	SNP	ENST00000423778.2	37	c.227C>T	CCDS46920.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.517193	0.85495	.	.	ENSG00000174611	ENST00000508956;ENST00000423778;ENST00000503669;ENST00000310263	.	.	.	5.58	5.58	0.84498	.	0.218503	0.38778	N	0.001565	T	0.74261	0.3693	M	0.61703	1.905	0.47214	D	0.999357	D;D;D;D	0.67145	0.992;0.986;0.992;0.996	P;P;P;D	0.64237	0.826;0.674;0.826;0.923	T	0.70517	-0.4850	9	0.28530	T	0.3	-3.4411	16.4916	0.84202	0.0:0.0:1.0:0.0	.	76;97;97;58	Q8NBH2-3;B4DGA7;Q8NBH2-4;Q8NBH2-2	.;.;.;.	L	76;97;97;97	.	ENSP00000309520:P97L	P	-	2	0	KY	135831200	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	3.809000	0.55606	2.622000	0.88805	0.557000	0.71058	CCT		0.507	KY-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357320.1	NM_178554		3	3	0	0	0	1	0	3	3				
KCNMA1	3778	broad.mit.edu	37	10	78651359	78651359	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr10:78651359G>A	ENST00000286628.8	-	26	3265	c.3266C>T	c.(3265-3267)cCg>cTg	p.P1089L	RP11-443A13.5_ENST00000458661.2_RNA|RP11-443A13.5_ENST00000609102.1_RNA|RP11-443A13.5_ENST00000595702.1_RNA|KCNMA1_ENST00000372443.1_Missense_Mutation_p.P1058L|KCNMA1_ENST00000372440.1_Missense_Mutation_p.P1031L|KCNMA1_ENST00000404857.1_Missense_Mutation_p.P1072L|KCNMA1_ENST00000406533.3_Missense_Mutation_p.P1093L|KCNMA1_ENST00000286627.5_Missense_Mutation_p.P1031L|KCNMA1_ENST00000354353.5_Missense_Mutation_p.P1092L|RP11-443A13.5_ENST00000429850.2_RNA|KCNMA1_ENST00000404771.3_Missense_Mutation_p.P1089L	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1089					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	CAGTGTCTGCGGGGTGCTGTA	0.627																																						ENST00000286627.5																			0				breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68						c.(3091-3093)cCg>cTg		potassium large conductance calcium-activated channel, subfamily M, alpha member 1	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)						47.0	46.0	46.0					10																	78651359		2203	4300	6503	SO:0001583	missense	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:78651359G>A	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.3266C>T	10.37:g.78651359G>A	ENSP00000286628:p.Pro1089Leu					KCNMA1_ENST00000404857.1_Missense_Mutation_p.P1072L|KCNMA1_ENST00000354353.5_Missense_Mutation_p.P1092L|KCNMA1_ENST00000372443.1_Missense_Mutation_p.P1058L|RP11-443A13.5_ENST00000595702.1_RNA|RP11-443A13.5_ENST00000429850.2_RNA|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000404771.3_Missense_Mutation_p.P1089L|KCNMA1_ENST00000372440.1_Missense_Mutation_p.P1031L|KCNMA1_ENST00000406533.3_Missense_Mutation_p.P1093L|KCNMA1_ENST00000286628.8_Missense_Mutation_p.P1089L	p.P1031L	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		25	4044	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		1089					F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	ENST00000286628.8	37	c.3092C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.87|18.87	3.714443|3.714443	0.68730|0.68730	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708|ENST00000372403	D;D;D;D;D;D;D;D;D|.	0.84298|.	-1.8;-1.81;-1.81;-1.82;-1.81;-1.8;-1.82;-1.83;-1.8|.	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70842|0.70842	0.3270|0.3270	L|L	0.49778|0.49778	1.585|1.585	0.80722|0.80722	D|D	1|1	D;P;P;P;P;B;P;B|.	0.64830|.	0.994;0.679;0.785;0.92;0.884;0.425;0.882;0.189|.	P;B;B;B;B;B;B;B|.	0.57468|.	0.821;0.115;0.23;0.326;0.23;0.107;0.325;0.031|.	T|T	0.66364|0.66364	-0.5942|-0.5942	10|5	0.51188|.	T|.	0.08|.	-15.6383|-15.6383	19.6414|19.6414	0.95758|0.95758	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1060;1061;1072;1089;1031;842;1092;1058|.	Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;F8WA96;Q5SVJ7|.	.;.;.;KCMA1_HUMAN;.;.;.;.|.	L|C	1031;968;1024;1063;1026;1058;1031;1063;1093;1092;1072;842|982	ENSP00000361517:P1031L;ENSP00000361485:P968L;ENSP00000361514:P1024L;ENSP00000396608:P1063L;ENSP00000361520:P1058L;ENSP00000286627:P1031L;ENSP00000385552:P1093L;ENSP00000346321:P1092L;ENSP00000385806:P1072L|.	ENSP00000286627:P1031L|.	P|R	-|-	2|1	0|0	KCNMA1|KCNMA1	78321365|78321365	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.606000|0.606000	0.37113|0.37113	9.476000|9.476000	0.97823|0.97823	2.655000|2.655000	0.90218|0.90218	0.650000|0.650000	0.86243|0.86243	CCG|CGC		0.627	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		11	41	0	0	0	1	0	11	41				
MRGPRX4	117196	broad.mit.edu	37	11	18195351	18195351	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr11:18195351G>C	ENST00000314254.3	+	1	968	c.548G>C	c.(547-549)tGg>tCg	p.W183S	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CCAGTCGCGTGGCTGATTTTT	0.512																																						ENST00000314254.3																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(547-549)tGg>tCg		MAS-related GPR, member X4							199.0	190.0	193.0					11																	18195351		2199	4293	6492	SO:0001583	missense	117196					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18195351G>C	AY042216	CCDS7831.1	11p15.1	2013-10-10			ENSG00000179817	ENSG00000179817		"""GPCR / Class A : Orphans"""	17617	protein-coding gene	gene with protein product		607230				11551509	Standard	NM_054032		Approved	MRGX4	uc001mnv.1	Q96LA9	OTTHUMG00000166442	ENST00000314254.3:c.548G>C	11.37:g.18195351G>C	ENSP00000314042:p.Trp183Ser					RP11-113D6.6_ENST00000527671.1_Intron	p.W183S	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN			1	968	+			183					Q3KNU3|Q3KNU4|Q502W0|Q8TDD6|Q8TDD7	Missense_Mutation	SNP	ENST00000314254.3	37	c.548G>C	CCDS7831.1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.772099	0.31320	.	.	ENSG00000179817	ENST00000314254	T	0.35789	1.29	2.85	2.85	0.33270	GPCR, rhodopsin-like superfamily (1);	1.200070	0.05938	N	0.636515	T	0.62708	0.2450	M	0.82323	2.585	0.09310	N	1	D	0.71674	0.998	D	0.76575	0.988	T	0.37454	-0.9705	10	0.49607	T	0.09	.	9.2601	0.37608	0.0:0.0:1.0:0.0	.	183	Q96LA9	MRGX4_HUMAN	S	183	ENSP00000314042:W183S	ENSP00000314042:W183S	W	+	2	0	MRGPRX4	18151927	0.006000	0.16342	0.541000	0.28102	0.008000	0.06430	1.522000	0.35921	1.616000	0.50265	0.430000	0.28490	TGG		0.512	MRGPRX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389788.1	NM_054032		40	63	0	0	0	1	0	40	63				
NLRP7	199713	broad.mit.edu	37	19	55446005	55446005	+	Missense_Mutation	SNP	G	G	T	rs555863660		TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:55446005G>T	ENST00000590030.1	-	6	2363	c.2323C>A	c.(2323-2325)Ccg>Acg	p.P775T	NLRP7_ENST00000448121.2_Missense_Mutation_p.P747T|NLRP7_ENST00000340844.2_Missense_Mutation_p.P775T|NLRP7_ENST00000588756.1_Missense_Mutation_p.P775T|NLRP7_ENST00000446217.1_Missense_Mutation_p.P803T|NLRP7_ENST00000328092.5_Missense_Mutation_p.P747T|NLRP7_ENST00000592784.1_Missense_Mutation_p.P775T			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	775							ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CACTGCTCCGGGGTGGCACAG	0.502													.|||	1	0.000199681	0.0	0.0014	5008	,	,		17633	0.0		0.0	False		,,,				2504	0.0					ENST00000446217.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73						c.(2407-2409)Ccg>Acg		NLR family, pyrin domain containing 7							67.0	62.0	64.0					19																	55446005		2203	4300	6503	SO:0001583	missense	199713						ATP binding	g.chr19:55446005G>T	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.2323C>A	19.37:g.55446005G>T	ENSP00000465520:p.Pro775Thr					NLRP7_ENST00000328092.5_Missense_Mutation_p.P747T|NLRP7_ENST00000340844.2_Missense_Mutation_p.P775T|NLRP7_ENST00000592784.1_Missense_Mutation_p.P775T|NLRP7_ENST00000590030.1_Missense_Mutation_p.P775T|NLRP7_ENST00000588756.1_Missense_Mutation_p.P775T|NLRP7_ENST00000448121.2_Missense_Mutation_p.P747T	p.P803T			Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	9	2809	-			775					E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.2407C>A	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-4.108332	0.00002	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T	0.53206	0.63;0.63;0.63	2.28	-4.56	0.03431	.	.	.	.	.	T	0.23210	0.0561	N	0.21194	0.64	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.17137	-1.0379	9	0.05525	T	0.97	.	5.8175	0.18500	0.0962:0.4038:0.3873:0.1128	.	803;775;775;747	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	T	775;747;775;803;542	ENSP00000409137:P747T;ENSP00000339491:P775T;ENSP00000414273:P803T	ENSP00000329568:P775T	P	-	1	0	NLRP7	60137817	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.588000	0.00422	-4.781000	0.00032	-2.613000	0.00159	CCG		0.502	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		10	24	1	0	0.00829132	1	0.0084986	10	24				
ZNF329	79673	broad.mit.edu	37	19	58639938	58639938	+	Silent	SNP	C	C	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:58639938C>G	ENST00000598312.1	-	4	1166	c.933G>C	c.(931-933)ggG>ggC	p.G311G	ZNF329_ENST00000358067.4_Silent_p.G311G	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	311					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)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		ATGGTTTTTCCCCTGTATGAG	0.433																																						ENST00000598312.1																			0				NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20						c.(931-933)ggG>ggC		zinc finger protein 329							134.0	133.0	134.0					19																	58639938		2203	4300	6503	SO:0001819	synonymous_variant	79673				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58639938C>G	AK022648	CCDS12972.1	19q13.43	2013-01-08				ENSG00000181894		"""Zinc fingers, C2H2-type"""	14209	protein-coding gene	gene with protein product							Standard	XM_006723381		Approved	FLJ12586	uc002qrn.3	Q86UD4		ENST00000598312.1:c.933G>C	19.37:g.58639938C>G						ZNF329_ENST00000358067.4_Silent_p.G311G	p.G311G	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)	4	1166	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)	311					B3KR32|Q9H9R7	Silent	SNP	ENST00000598312.1	37	c.933G>C	CCDS12972.1																																																																																				0.433	ZNF329-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466724.1	NM_024620		25	88	0	0	0	1	0	25	88				
BMPER	168667	broad.mit.edu	37	7	34118705	34118705	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:34118705C>A	ENST00000297161.2	+	13	1689	c.1315C>A	c.(1315-1317)Cgc>Agc	p.R439S	BMPER_ENST00000426693.1_Missense_Mutation_p.R439S	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	439	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)		p.R439C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CCTCACCGTGCGCTGGAACGG	0.662																																						ENST00000297161.2																			1	Substitution - Missense(1)	p.R439C(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1315-1317)Cgc>Agc		BMP binding endothelial regulator							70.0	71.0	71.0					7																	34118705		2203	4299	6502	SO:0001583	missense	168667				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		g.chr7:34118705C>A		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.1315C>A	7.37:g.34118705C>A	ENSP00000297161:p.Arg439Ser					BMPER_ENST00000426693.1_Missense_Mutation_p.R439S	p.R439S	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN			13	1689	+			439			VWFD.		A8K1P8|Q8TF36	Missense_Mutation	SNP	ENST00000297161.2	37	c.1315C>A	CCDS5442.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.187743	0.78789	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.59224	0.28;0.28	5.87	4.92	0.64577	von Willebrand factor, type D domain (3);	0.103731	0.64402	D	0.000005	T	0.47210	0.1433	L	0.35593	1.075	0.45066	D	0.998089	P	0.43607	0.812	P	0.45310	0.476	T	0.26538	-1.0100	10	0.09843	T	0.71	.	11.5795	0.50883	0.3835:0.6165:0.0:0.0	.	439	Q8N8U9	BMPER_HUMAN	S	439	ENSP00000297161:R439S;ENSP00000393950:R439S	ENSP00000297161:R439S	R	+	1	0	BMPER	34085230	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.834000	0.62774	2.781000	0.95711	0.655000	0.94253	CGC		0.662	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		21	67	1	0	5.35356e-11	1	6.76318e-11	21	67				
SLC47A1	55244	broad.mit.edu	37	17	19480697	19480697	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr17:19480697C>A	ENST00000270570.4	+	17	1630	c.1544C>A	c.(1543-1545)cCt>cAt	p.P515H	RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000457293.1_Missense_Mutation_p.P515H|SLC47A1_ENST00000395585.1_Missense_Mutation_p.P515H|SLC47A1_ENST00000571335.1_Missense_Mutation_p.P261H|AC025627.7_ENST00000420951.1_RNA|SLC47A1_ENST00000436810.2_3'UTR|SLC47A1_ENST00000575023.1_Missense_Mutation_p.P213H	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	515					organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	ACAGGCGAGCCTCAGTCAGAT	0.498																																						ENST00000270570.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(1543-1545)cCt>cAt		solute carrier family 47 (multidrug and toxin extrusion), member 1							105.0	105.0	105.0					17																	19480697		2203	4300	6503	SO:0001583	missense	55244					integral to membrane|plasma membrane	drug:hydrogen antiporter activity	g.chr17:19480697C>A		CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"""Solute carriers"""	25588	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 1"""	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.1544C>A	17.37:g.19480697C>A	ENSP00000270570:p.Pro515His					RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000457293.1_Missense_Mutation_p.P515H|SLC47A1_ENST00000575023.1_Missense_Mutation_p.P213H|SLC47A1_ENST00000395585.1_Missense_Mutation_p.P515H|SLC47A1_ENST00000436810.2_3'UTR|SLC47A1_ENST00000571335.1_Missense_Mutation_p.P261H	p.P515H	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN			17	1630	+	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)		515					Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Missense_Mutation	SNP	ENST00000270570.4	37	c.1544C>A	CCDS11209.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.387194	0.25031	.	.	ENSG00000142494	ENST00000270570;ENST00000457293;ENST00000395585;ENST00000455670;ENST00000424755	T;T;T	0.30448	1.54;1.53;1.53	4.43	-2.16	0.07080	.	2.503060	0.01075	N	0.004883	T	0.16557	0.0398	N	0.08118	0	0.09310	N	1	B;B;B;B	0.33171	0.138;0.138;0.141;0.4	B;B;B;B	0.32022	0.06;0.06;0.139;0.07	T	0.20571	-1.0271	10	0.49607	T	0.09	-6.0846	6.4133	0.21702	0.0:0.3446:0.4665:0.1889	.	190;190;515;515	E7ENC3;B4DDH5;Q96FL8;Q96FL8-3	.;.;S47A1_HUMAN;.	H	515;515;515;190;227	ENSP00000270570:P515H;ENSP00000415586:P515H;ENSP00000378951:P515H	ENSP00000270570:P515H	P	+	2	0	SLC47A1	19421289	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.003000	0.13083	-0.111000	0.12001	-0.467000	0.05162	CCT		0.498	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132250.1	NM_018242		25	63	1	0	7.87624e-14	1	1.05406e-13	25	63				
FSTL5	56884	broad.mit.edu	37	4	162841715	162841715	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:162841715G>T	ENST00000306100.5	-	4	686	c.250C>A	c.(250-252)Caa>Aaa	p.Q84K	FSTL5_ENST00000379164.4_Missense_Mutation_p.Q83K|FSTL5_ENST00000427802.2_Missense_Mutation_p.Q83K|FSTL5_ENST00000536695.1_Missense_Mutation_p.Q83K	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	84	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CATTCTGCTTGCCCTGTCTCT	0.443																																						ENST00000306100.5																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.(250-252)Caa>Aaa		follistatin-like 5							95.0	84.0	88.0					4																	162841715		2203	4300	6503	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:162841715G>T	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.250C>A	4.37:g.162841715G>T	ENSP00000305334:p.Gln84Lys					FSTL5_ENST00000536695.1_Missense_Mutation_p.Q83K|FSTL5_ENST00000379164.4_Missense_Mutation_p.Q83K|FSTL5_ENST00000427802.2_Missense_Mutation_p.Q83K	p.Q84K	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	4	686	-	all_hematologic(180;0.24)		84			Kazal-like.		E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.250C>A	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	G	9.210	1.030585	0.19512	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.71461	-0.55;-0.53;-0.57;-0.53	5.86	4.06	0.47325	.	0.308092	0.35739	N	0.003006	T	0.56731	0.2005	L	0.29908	0.895	0.40881	D	0.98399	B;B;B	0.20261	0.02;0.043;0.02	B;B;B	0.15052	0.009;0.012;0.006	T	0.49899	-0.8890	10	0.24483	T	0.36	.	12.2346	0.54508	0.0:0.1299:0.7349:0.1352	.	83;83;84	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	K	84;83;83;83	ENSP00000305334:Q84K;ENSP00000368462:Q83K;ENSP00000389270:Q83K;ENSP00000440409:Q83K	ENSP00000305334:Q84K	Q	-	1	0	FSTL5	163061165	1.000000	0.71417	0.045000	0.18777	0.579000	0.36224	5.203000	0.65174	0.853000	0.35312	0.650000	0.86243	CAA		0.443	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		13	35	1	0	2.61681e-11	1	3.33385e-11	13	35				
ATP10A	57194	broad.mit.edu	37	15	25940061	25940061	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr15:25940061C>A	ENST00000356865.6	-	14	3104	c.2993G>T	c.(2992-2994)tGc>tTc	p.C998F		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	998					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GACGGAGCGGCACTGCTTGGC	0.607																																						ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(2992-2994)tGc>tTc		ATPase, class V, type 10A							82.0	79.0	80.0					15																	25940061		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25940061C>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2993G>T	15.37:g.25940061C>A	ENSP00000349325:p.Cys998Phe						p.C998F	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	14	3104	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	998					Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.2993G>T	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.219861	0.79464	.	.	ENSG00000206190	ENST00000356865	D	0.90385	-2.66	5.43	4.5	0.54988	HAD-like domain (1);	0.000000	0.85682	D	0.000000	D	0.96731	0.8933	H	0.96301	3.8	0.80722	D	1	D	0.61080	0.989	D	0.70227	0.968	D	0.97882	1.0292	10	0.87932	D	0	-29.4578	15.4185	0.74991	0.1403:0.8597:0.0:0.0	.	998	O60312	AT10A_HUMAN	F	998	ENSP00000349325:C998F	ENSP00000349325:C998F	C	-	2	0	ATP10A	23491154	1.000000	0.71417	0.999000	0.59377	0.893000	0.52053	7.561000	0.82288	1.256000	0.44068	0.563000	0.77884	TGC		0.607	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		29	29	1	0	3.73148e-12	1	4.87796e-12	29	29				
RYR3	6263	broad.mit.edu	37	15	33855069	33855069	+	Missense_Mutation	SNP	A	A	T	rs368778368		TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr15:33855069A>T	ENST00000389232.4	+	11	1074	c.1004A>T	c.(1003-1005)aAg>aTg	p.K335M	RYR3_ENST00000415757.3_Missense_Mutation_p.K335M	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	335					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCCAGTCACAAGCGAGACATA	0.403																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(1003-1005)aAg>aTg		ryanodine receptor 3							78.0	77.0	77.0					15																	33855069		1872	4116	5988	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33855069A>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.1004A>T	15.37:g.33855069A>T	ENSP00000373884:p.Lys335Met					RYR3_ENST00000415757.3_Missense_Mutation_p.K335M	p.K335M	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	11	1074	+		all_lung(180;7.18e-09)	335					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.1004A>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.524423	0.85600	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.91180	-2.8;-2.8	5.27	5.27	0.74061	MIR motif (1);MIR (2);	0.000000	0.85682	D	0.000000	D	0.94411	0.8202	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	1.0;0.975	D;P	0.87578	0.998;0.87	D	0.94730	0.7909	10	0.62326	D	0.03	.	15.0172	0.71594	1.0:0.0:0.0:0.0	.	335;335	Q15413-2;Q15413	.;RYR3_HUMAN	M	335	ENSP00000373884:K335M;ENSP00000399610:K335M	ENSP00000354735:K335M	K	+	2	0	RYR3	31642361	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	7.237000	0.78164	2.218000	0.71995	0.533000	0.62120	AAG		0.403	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			24	35	0	0	0	1	0	24	35				
APOB	338	broad.mit.edu	37	2	21234732	21234732	+	Nonsense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:21234732C>A	ENST00000233242.1	-	26	5135	c.5008G>T	c.(5008-5010)Gag>Tag	p.E1670*		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1670			E -> D (polymorphism confirmed at protein level). {ECO:0000269|PubMed:22028381, ECO:0000269|PubMed:3461454}.		artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCATTCAGCTCATTCTCCAGC	0.473																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(5008-5010)Gag>Tag		apolipoprotein B	Atorvastatin(DB01076)						88.0	81.0	83.0					2																	21234732		2203	4300	6503	SO:0001587	stop_gained	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21234732C>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.5008G>T	2.37:g.21234732C>A	ENSP00000233242:p.Glu1670*						p.E1670*	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	5135	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1670	E -> D (in Ref. 8; AAA51752).				O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Nonsense_Mutation	SNP	ENST00000233242.1	37	c.5008G>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	45	11.521420	0.99571	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	.	.	.	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	20.4238	0.99064	0.0:1.0:0.0:0.0	.	.	.	.	X	1670	.	ENSP00000233242:E1670X	E	-	1	0	APOB	21088237	0.991000	0.36638	1.000000	0.80357	0.863000	0.49368	1.719000	0.38011	2.834000	0.97654	0.650000	0.86243	GAG		0.473	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			23	73	1	0	1.50039e-11	1	1.93336e-11	23	73				
PLA2R1	22925	broad.mit.edu	37	2	160833232	160833232	+	Splice_Site	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:160833232C>T	ENST00000283243.7	-	16	2608		c.e16-1		PLA2R1_ENST00000392771.1_Splice_Site	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa						cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GGTTTCACATCTGCAAAGTGA	0.358																																						ENST00000283243.7																		PLA2R1/RBMS1(2)	0				central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						c.e16-1		phospholipase A2 receptor 1, 180kDa							83.0	76.0	78.0					2																	160833232		2203	4300	6503	SO:0001630	splice_region_variant	22925				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160833232C>T	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.2402-1G>A	2.37:g.160833232C>T						PLA2R1_ENST00000392771.1_Splice_Site		NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN			16	2608	-								B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Splice_Site	SNP	ENST00000283243.7	37		CCDS33309.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.038118	0.75617	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	.	.	.	4.77	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9247	0.86173	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PLA2R1	160541478	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.312000	0.51927	2.361000	0.80049	0.561000	0.74099	.		0.358	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1		Intron	14	31	0	0	0	1	0	14	31				
AGAP3	116988	broad.mit.edu	37	7	150814821	150814821	+	Silent	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:150814821C>T	ENST00000397238.2	+	5	663	c.663C>T	c.(661-663)ttC>ttT	p.F221F	AGAP3_ENST00000479901.1_Silent_p.F221F|AGAP3_ENST00000473312.1_Silent_p.F221F|AGAP3_ENST00000476375.1_3'UTR|AGAP3_ENST00000335367.3_Silent_p.F401F|AGAP3_ENST00000463381.1_5'UTR	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	185	Small GTPase-like.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						TCTGCAGCTTCCGCAACGCCA	0.602																																						ENST00000397238.2																			0				central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						c.(661-663)ttC>ttT		ArfGAP with GTPase domain, ankyrin repeat and PH domain 3							114.0	120.0	118.0					7																	150814821		2052	4209	6261	SO:0001819	synonymous_variant	116988				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	g.chr7:150814821C>T	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16923	protein-coding gene	gene with protein product			"""centaurin, gamma 3"""	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000397238.2:c.663C>T	7.37:g.150814821C>T						AGAP3_ENST00000476375.1_3'UTR|AGAP3_ENST00000335367.3_Silent_p.F401F|AGAP3_ENST00000463381.1_5'UTR|AGAP3_ENST00000479901.1_Silent_p.F221F|AGAP3_ENST00000473312.1_Silent_p.F221F	p.F221F	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN			5	663	+			185			Small GTPase-like.		B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Silent	SNP	ENST00000397238.2	37	c.663C>T	CCDS43681.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.643192	0.29246	.	.	ENSG00000133612	ENST00000469901	.	.	.	4.27	2.36	0.29203	.	.	.	.	.	T	0.59169	0.2174	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55829	-0.8079	4	.	.	.	.	10.2149	0.43162	0.0:0.8295:0.0:0.1705	.	.	.	.	F	157	.	.	S	+	2	0	AGAP3	150445754	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.236000	0.32683	0.999000	0.39023	0.407000	0.27541	TCC		0.602	AGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351908.3	NM_031946		24	70	0	0	0	1	0	24	70				
ALDH18A1	5832	broad.mit.edu	37	10	97402775	97402775	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr10:97402775C>A	ENST00000371224.2	-	3	414	c.277G>T	c.(277-279)Ggg>Tgg	p.G93W	ALDH18A1_ENST00000483788.1_5'UTR|ALDH18A1_ENST00000371221.3_Missense_Mutation_p.G93W	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	93	Glutamate 5-kinase.				cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|glutamate metabolic process (GO:0006536)|L-proline biosynthetic process (GO:0055129)|ornithine biosynthetic process (GO:0006592)|proline biosynthetic process (GO:0006561)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate 5-kinase activity (GO:0004349)|glutamate-5-semialdehyde dehydrogenase activity (GO:0004350)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)		GCCAAGCGCCCCAGGGCCAGG	0.507																																						ENST00000371224.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(277-279)Ggg>Tgg		aldehyde dehydrogenase 18 family, member A1	L-Glutamic Acid(DB00142)						74.0	58.0	63.0					10																	97402775		2203	4300	6503	SO:0001583	missense	5832				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity	g.chr10:97402775C>A	X94453	CCDS7443.1, CCDS31257.1	10q24.3-q24.6	2004-08-12	2004-08-12	2004-08-12	ENSG00000059573	ENSG00000059573		"""Aldehyde dehydrogenases"""	9722	protein-coding gene	gene with protein product		138250	"""pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)"""	GSAS, PYCS		8921385	Standard	XM_006717933		Approved	P5CS	uc001kkz.3	P54886	OTTHUMG00000018815	ENST00000371224.2:c.277G>T	10.37:g.97402775C>A	ENSP00000360268:p.Gly93Trp					ALDH18A1_ENST00000483788.1_5'UTR|ALDH18A1_ENST00000371221.3_Missense_Mutation_p.G93W	p.G93W	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	3	414	-		Colorectal(252;0.0402)	93			Glutamate 5-kinase.		B2R5Q4|B7Z350|B7Z5X8|B7ZLP1|D3DR44|O95952|Q3KQU2|Q5T566|Q5T567|Q9UM72	Missense_Mutation	SNP	ENST00000371224.2	37	c.277G>T	CCDS7443.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088897	0.76756	.	.	ENSG00000059573	ENST00000371224;ENST00000371221	T;T	0.73047	-0.71;-0.71	5.45	5.45	0.79879	Aspartate/glutamate/uridylate kinase (3);	0.049282	0.85682	D	0.000000	D	0.88328	0.6407	M	0.93241	3.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90920	0.4782	10	0.87932	D	0	-17.4333	17.1215	0.86702	0.0:1.0:0.0:0.0	.	93;93	P54886;P54886-2	P5CS_HUMAN;.	W	93	ENSP00000360268:G93W;ENSP00000360265:G93W	ENSP00000360265:G93W	G	-	1	0	ALDH18A1	97392765	1.000000	0.71417	1.000000	0.80357	0.596000	0.36781	7.330000	0.79181	2.706000	0.92434	0.655000	0.94253	GGG		0.507	ALDH18A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049552.1	NM_002860		12	36	1	0	1.08611e-07	1	1.24958e-07	12	36				
DDX20	11218	broad.mit.edu	37	1	112305593	112305593	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:112305593G>C	ENST00000369702.4	+	10	1896	c.1276G>C	c.(1276-1278)Gcc>Ccc	p.A426P	DDX20_ENST00000475700.1_Missense_Mutation_p.A34P|DDX20_ENST00000536167.1_3'UTR	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	426	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oogenesis (GO:0048477)|positive regulation of apoptotic process (GO:0043065)|regulation of steroid biosynthetic process (GO:0050810)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|spliceosomal snRNP assembly (GO:0000387)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|transcriptional repressor complex (GO:0017053)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATGAGAATTGCCCAGAAATG	0.353																																						ENST00000475700.1																			0				endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21						c.(100-102)Gcc>Ccc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 20							116.0	116.0	116.0					1																	112305593		2203	4300	6503	SO:0001583	missense	11218				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding	g.chr1:112305593G>C	AF106019	CCDS842.1	1p21.1-p13.2	2008-02-05	2003-06-13		ENSG00000064703	ENSG00000064703		"""DEAD-boxes"""	2743	protein-coding gene	gene with protein product		606168	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kD"""			10383418	Standard	NM_007204		Approved	DP103, GEMIN3	uc001ebs.3	Q9UHI6	OTTHUMG00000011956	ENST00000369702.4:c.1276G>C	1.37:g.112305593G>C	ENSP00000358716:p.Ala426Pro					DDX20_ENST00000369702.4_Missense_Mutation_p.A426P|DDX20_ENST00000536167.1_3'UTR	p.A34P			Q9UHI6	DDX20_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	2458	+		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)	426					B4DWV7|Q96F72|Q9NVM3|Q9UF59|Q9UIY0|Q9Y659	Missense_Mutation	SNP	ENST00000369702.4	37	c.100G>C	CCDS842.1	.	.	.	.	.	.	.	.	.	.	G	33	5.196823	0.94960	.	.	ENSG00000064703	ENST00000369702;ENST00000475700	T;T	0.46063	1.2;0.88	5.33	5.33	0.75918	Helicase, C-terminal (1);	0.049378	0.85682	D	0.000000	T	0.59555	0.2202	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.973	T	0.59799	-0.7386	10	0.52906	T	0.07	-39.8081	18.9932	0.92801	0.0:0.0:1.0:0.0	.	34;426	E9PJ60;Q9UHI6	.;DDX20_HUMAN	P	426;34	ENSP00000358716:A426P;ENSP00000435660:A34P	ENSP00000358716:A426P	A	+	1	0	DDX20	112107116	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.979000	0.93455	2.649000	0.89929	0.650000	0.86243	GCC		0.353	DDX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033063.2	NM_007204		11	43	0	0	0	1	0	11	43				
HSF4	3299	broad.mit.edu	37	16	67201122	67201122	+	Silent	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr16:67201122G>A	ENST00000521374.1	+	7	726	c.726G>A	c.(724-726)caG>caA	p.Q242Q	HSF4_ENST00000264009.8_Silent_p.Q242Q|HSF4_ENST00000584272.1_Silent_p.Q242Q|HSF4_ENST00000421453.1_Silent_p.Q242Q|HSF4_ENST00000517867.1_3'UTR			Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	242					camera-type eye development (GO:0043010)|cell development (GO:0048468)|histone H3-K9 demethylation (GO:0033169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotrimerization (GO:0070207)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		ACTTCATCCAGTCGGTAGGTT	0.567																																						ENST00000264009.8																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12						c.(724-726)caG>caA		heat shock transcription factor 4							124.0	132.0	130.0					16																	67201122		2018	4183	6201	SO:0001819	synonymous_variant	3299				response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr16:67201122G>A	D87673	CCDS42175.1, CCDS45510.1	16q21	2013-01-22			ENSG00000102878	ENSG00000102878			5227	protein-coding gene	gene with protein product		602438	"""cataract, Marner"""	CTM		8972228, 10488131, 12089525	Standard	NM_001538		Approved		uc002erl.2	Q9ULV5	OTTHUMG00000178325	ENST00000521374.1:c.726G>A	16.37:g.67201122G>A						HSF4_ENST00000521374.1_Silent_p.Q242Q|HSF4_ENST00000421453.1_Silent_p.Q242Q|HSF4_ENST00000517867.1_3'UTR|HSF4_ENST00000584272.1_Silent_p.Q242Q	p.Q242Q	NM_001040667.2	NP_001035757.1	Q9ULV5	HSF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)	9	1691	+		Ovarian(137;0.0563)	242					Q99472|Q9ULV6	Silent	SNP	ENST00000521374.1	37	c.726G>A	CCDS42175.1	.	.	.	.	.	.	.	.	.	.	G	9.579	1.122976	0.20959	.	.	ENSG00000102878	ENST00000519601	.	.	.	4.72	3.75	0.43078	.	.	.	.	.	T	0.61887	0.2383	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59579	-0.7428	4	.	.	.	-23.4515	11.0312	0.47774	0.0917:0.0:0.9083:0.0	.	.	.	.	I	17	.	.	V	+	1	0	HSF4	65758623	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.888000	0.48594	1.190000	0.43042	0.563000	0.77884	GTC		0.567	HSF4-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375080.1	NM_001538		18	35	0	0	0	1	0	18	35				
CA3	761	broad.mit.edu	37	8	86351946	86351946	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr8:86351946G>T	ENST00000285381.2	+	2	123	c.40G>T	c.(40-42)Gac>Tac	p.D14Y	RP11-317J10.2_ENST00000521761.1_RNA|RP11-317J10.2_ENST00000517697.1_RNA	NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	14					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|response to ethanol (GO:0045471)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	carbonate dehydratase activity (GO:0004089)|nickel cation binding (GO:0016151)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23					Acetazolamide(DB00819)|Zonisamide(DB00909)	CCTAGGTCCTGACCACTGGCA	0.473																																						ENST00000285381.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(40-42)Gac>Tac		carbonic anhydrase III, muscle specific							51.0	50.0	50.0					8																	86351946		2203	4300	6503	SO:0001583	missense	761				one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding	g.chr8:86351946G>T	AJ006473	CCDS6238.1	8q21.2	2012-10-02					4.2.1.1	"""Carbonic anhydrases"""	1374	protein-coding gene	gene with protein product		114750				6221502	Standard	NM_005181		Approved	Car3, CAIII	uc003ydj.3	P07451		ENST00000285381.2:c.40G>T	8.37:g.86351946G>T	ENSP00000285381:p.Asp14Tyr						p.D14Y	NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN			2	123	+			14					B2R867|B3KUC8|O60842	Missense_Mutation	SNP	ENST00000285381.2	37	c.40G>T	CCDS6238.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475474	0.84640	.	.	ENSG00000164879	ENST00000285381;ENST00000426378	T	0.68765	-0.35	5.75	5.75	0.90469	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.250497	0.46442	D	0.000286	T	0.79551	0.4465	M	0.73962	2.25	0.58432	D	0.999999	D	0.62365	0.991	P	0.56823	0.807	T	0.81304	-0.0993	10	0.72032	D	0.01	-25.0167	18.9294	0.92558	0.0:0.0:1.0:0.0	.	14	P07451	CAH3_HUMAN	Y	14	ENSP00000285381:D14Y	ENSP00000285381:D14Y	D	+	1	0	CA3	86539198	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	5.644000	0.67902	2.706000	0.92434	0.603000	0.83216	GAC		0.473	CA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381090.1	NM_005181		4	50	1	0	0.014758	1	0.0150245	4	50				
ZNF804A	91752	broad.mit.edu	37	2	185803491	185803491	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:185803491A>C	ENST00000302277.6	+	4	3962	c.3368A>C	c.(3367-3369)aAa>aCa	p.K1123T		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1123							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						gGAACCTTTAAAGTGCTTCAG	0.517																																						ENST00000302277.6																			0				NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						c.(3367-3369)aAa>aCa		zinc finger protein 804A							91.0	93.0	92.0					2																	185803491		2203	4300	6503	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185803491A>C	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.3368A>C	2.37:g.185803491A>C	ENSP00000303252:p.Lys1123Thr						p.K1123T	NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN			4	3962	+			1123					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.3368A>C	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	A	15.25	2.778019	0.49786	.	.	ENSG00000170396	ENST00000302277	T	0.06933	3.24	5.03	5.03	0.67393	.	0.000000	0.52532	D	0.000079	T	0.22975	0.0555	L	0.57536	1.79	0.30135	N	0.80446	D	0.76494	0.999	D	0.66716	0.946	T	0.03095	-1.1073	10	0.87932	D	0	-23.6196	12.5019	0.55960	1.0:0.0:0.0:0.0	.	1123	Q7Z570	Z804A_HUMAN	T	1123	ENSP00000303252:K1123T	ENSP00000303252:K1123T	K	+	2	0	ZNF804A	185511736	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	3.434000	0.52841	1.882000	0.54519	0.260000	0.18958	AAA		0.517	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		30	68	0	0	0	1	0	30	68				
KIAA1755	85449	broad.mit.edu	37	20	36869162	36869162	+	Silent	SNP	A	A	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr20:36869162A>G	ENST00000279024.4	-	3	1642	c.1371T>C	c.(1369-1371)ccT>ccC	p.P457P		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	457										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TGTTTCTGCTAGGGCAGGGCA	0.572																																						ENST00000279024.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54						c.(1369-1371)ccT>ccC		KIAA1755							69.0	69.0	69.0					20																	36869162		2203	4300	6503	SO:0001819	synonymous_variant	85449							g.chr20:36869162A>G	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.1371T>C	20.37:g.36869162A>G							p.P457P	NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN			3	1642	-		Myeloproliferative disorder(115;0.00874)	457					Q9C0A8	Silent	SNP	ENST00000279024.4	37	c.1371T>C	CCDS33467.1																																																																																				0.572	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		24	56	0	0	0	1	0	24	56				
UBE3D	90025	broad.mit.edu	37	6	83767585	83767585	+	Silent	SNP	T	T	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:83767585T>G	ENST00000369747.3	-	2	356	c.234A>C	c.(232-234)ggA>ggC	p.G78G		NM_198920.1	NP_944602.1	Q7Z6J8	UBE3D_HUMAN	ubiquitin protein ligase E3D	78					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)										GCAGGTGCAGTCCATCTCCAA	0.463											OREG0017549	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000369747.3																			0											c.(232-234)ggA>ggC		ubiquitin protein ligase E3D							76.0	75.0	76.0					6																	83767585		2203	4300	6503	SO:0001819	synonymous_variant	90025					cytoplasm	ligase activity	g.chr6:83767585T>G	AL137544	CCDS34491.1	6q15	2012-02-24	2012-02-24	2012-02-24	ENSG00000118420	ENSG00000118420			21381	protein-coding gene	gene with protein product	"""UBCH10 binding protein with a hect-like domain"""	612495	"""chromosome 6 open reading frame 157"", ""ubiquitin-conjugating enzyme E2C binding protein"""	C6orf157, UBE2CBP		15749827	Standard	NM_198920		Approved	DKFZp434A1520, H10BH, YJR141W	uc003pjp.2	Q7Z6J8	OTTHUMG00000015108	ENST00000369747.3:c.234A>C	6.37:g.83767585T>G			OREG0017549	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1224		p.G78G	NM_198920.1	NP_944602.1	Q7Z6J8	UB2CB_HUMAN			2	356	-			78					B4DP63|Q5T4W2|Q6IPR4|Q75UG0|Q9NT42	Silent	SNP	ENST00000369747.3	37	c.234A>C	CCDS34491.1																																																																																				0.463	UBE3D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041347.7	NM_198920		17	29	0	0	0	1	0	17	29				
UGT2B15	7366	broad.mit.edu	37	4	69519826	69519826	+	Silent	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:69519826G>A	ENST00000338206.5	-	5	1251	c.1242C>T	c.(1240-1242)ctC>ctT	p.L414L		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	414					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)									Acetaminophen(DB00316)|Dabigatran etexilate(DB06695)|Ezetimibe(DB00973)|Lorazepam(DB00186)|Morphine(DB00295)|Oxazepam(DB00842)|Valproic Acid(DB00313)	TGTCCACACTGAGGGCTGCTC	0.468																																						ENST00000338206.5																			0											c.(1240-1242)ctC>ctT		UDP glucuronosyltransferase 2 family, polypeptide B15							162.0	154.0	157.0					4																	69519826		2203	4292	6495	SO:0001819	synonymous_variant	7366				steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69519826G>A	AF180322	CCDS3524.1	4q13	2008-02-05	2005-07-20		ENSG00000196620	ENSG00000196620		"""UDP glucuronosyltransferases"""	12546	protein-coding gene	gene with protein product		600069	"""UDP glycosyltransferase 2 family, polypeptide B15"""			7835904	Standard	NM_001076		Approved	UGT2B8	uc021xow.1	P54855	OTTHUMG00000161507	ENST00000338206.5:c.1242C>T	4.37:g.69519826G>A							p.L414L	NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN			5	1251	-			414					A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63	Silent	SNP	ENST00000338206.5	37	c.1242C>T	CCDS3524.1																																																																																				0.468	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365172.1	NM_001076		56	167	0	0	0	1	0	56	167				
CDHR2	54825	broad.mit.edu	37	5	176004720	176004720	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr5:176004720C>A	ENST00000510636.1	+	14	1707	c.1433C>A	c.(1432-1434)cCc>cAc	p.P478H	CDHR2_ENST00000506348.1_Missense_Mutation_p.P478H|CDHR2_ENST00000261944.5_Missense_Mutation_p.P478H	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	478	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GACCACAGGCCCACGTTTCCC	0.602																																						ENST00000510636.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						c.(1432-1434)cCc>cAc		cadherin-related family member 2							103.0	90.0	95.0					5																	176004720		2203	4300	6503	SO:0001583	missense	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176004720C>A	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.1433C>A	5.37:g.176004720C>A	ENSP00000424565:p.Pro478His					CDHR2_ENST00000506348.1_Missense_Mutation_p.P478H|CDHR2_ENST00000261944.5_Missense_Mutation_p.P478H	p.P478H	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN			14	1707	+			478			Cadherin 4.		A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	37	c.1433C>A	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.896933	0.72639	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	D;D;D	0.85339	-1.97;-1.97;-1.97	5.03	5.03	0.67393	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.95290	0.8472	H	0.96777	3.88	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96734	0.9541	9	0.87932	D	0	-29.058	18.544	0.91039	0.0:1.0:0.0:0.0	.	478	Q9BYE9	CDHR2_HUMAN	H	478	ENSP00000424565:P478H;ENSP00000261944:P478H;ENSP00000421078:P478H	ENSP00000261944:P478H	P	+	2	0	CDHR2	175937326	0.994000	0.37717	0.964000	0.40570	0.693000	0.40251	5.304000	0.65744	2.627000	0.88993	0.549000	0.68633	CCC		0.602	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		13	15	1	0	4.3838e-07	1	4.99266e-07	13	15				
SLITRK3	22865	broad.mit.edu	37	3	164906463	164906463	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:164906463C>A	ENST00000475390.1	-	2	2599	c.2156G>T	c.(2155-2157)aGt>aTt	p.S719I	SLITRK3_ENST00000241274.3_Missense_Mutation_p.S719I			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	719	Poly-Gly.				axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						accacccccacttccgccacc	0.577										HNSCC(40;0.11)																												ENST00000475390.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						c.(2155-2157)aGt>aTt		SLIT and NTRK-like family, member 3							84.0	61.0	69.0					3																	164906463		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164906463C>A	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2156G>T	3.37:g.164906463C>A	ENSP00000420091:p.Ser719Ile	HNSCC(40;0.11)				SLITRK3_ENST00000241274.3_Missense_Mutation_p.S719I	p.S719I			O94933	SLIK3_HUMAN			2	2599	-			719			Poly-Gly.		Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.2156G>T	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.482738	0.26598	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.55052	0.54;0.54	4.89	-3.01	0.05463	.	0.412546	0.17801	U	0.161554	T	0.25005	0.0607	N	0.08118	0	0.09310	N	1	B	0.14438	0.01	B	0.13407	0.009	T	0.07635	-1.0762	10	0.66056	D	0.02	-4.2276	5.1665	0.15088	0.0:0.2858:0.273:0.4412	.	719	O94933	SLIK3_HUMAN	I	719	ENSP00000420091:S719I;ENSP00000241274:S719I	ENSP00000241274:S719I	S	-	2	0	SLITRK3	166389157	0.894000	0.30519	0.000000	0.03702	0.002000	0.02628	0.878000	0.28126	-0.784000	0.04528	-0.175000	0.13238	AGT		0.577	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		22	31	1	0	3.62473e-10	1	4.5284e-10	22	31				
IFT140	9742	broad.mit.edu	37	16	1570757	1570757	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr16:1570757T>C	ENST00000426508.2	-	27	3869	c.3506A>G	c.(3505-3507)gAg>gGg	p.E1169G	IFT140_ENST00000361339.5_Missense_Mutation_p.E363G	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	1169					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TTCCGCCATCTCCTCGGTGAT	0.632																																						ENST00000426508.2																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53						c.(3505-3507)gAg>gGg		intraflagellar transport 140 homolog (Chlamydomonas)							35.0	33.0	34.0					16																	1570757		2199	4300	6499	SO:0001583	missense	9742							g.chr16:1570757T>C	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.3506A>G	16.37:g.1570757T>C	ENSP00000406012:p.Glu1169Gly					IFT140_ENST00000361339.5_Missense_Mutation_p.E363G	p.E1169G	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN			27	3869	-		Hepatocellular(780;0.219)	1169					A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	c.3506A>G	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	T	28.9	4.956187	0.92726	.	.	ENSG00000187535	ENST00000397417;ENST00000361339;ENST00000426508	T;T	0.41065	1.01;1.01	5.71	5.71	0.89125	.	0.231754	0.44097	D	0.000497	T	0.67382	0.2887	M	0.87180	2.865	0.80722	D	1	D;D	0.65815	0.983;0.995	P;P	0.62560	0.662;0.904	T	0.73148	-0.4074	10	0.59425	D	0.04	.	16.2778	0.82654	0.0:0.0:0.0:1.0	.	1169;856	Q96RY7;B4DR58	IF140_HUMAN;.	G	1169;363;1169	ENSP00000354895:E363G;ENSP00000406012:E1169G	ENSP00000354895:E363G	E	-	2	0	IFT140	1510758	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	7.932000	0.87634	2.306000	0.77630	0.533000	0.62120	GAG		0.632	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		6	11	0	0	0	1	0	6	11				
YEATS2	55689	broad.mit.edu	37	3	183479353	183479353	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:183479353A>T	ENST00000305135.5	+	14	1910	c.1715A>T	c.(1714-1716)aAg>aTg	p.K572M		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	572					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			AGTCACCCTAAGGTTCAAAGC	0.413																																						ENST00000305135.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49						c.(1714-1716)aAg>aTg		YEATS domain containing 2							149.0	147.0	147.0					3																	183479353		1877	4092	5969	SO:0001583	missense	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183479353A>T	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.1715A>T	3.37:g.183479353A>T	ENSP00000306983:p.Lys572Met						p.K572M	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		14	1910	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		572					A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	37	c.1715A>T	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.525258	0.85600	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.32272	1.46	6.03	6.03	0.97812	.	0.150950	0.46758	D	0.000272	T	0.44871	0.1314	L	0.27053	0.805	0.43095	D	0.994776	D	0.89917	1.0	D	0.83275	0.996	T	0.45542	-0.9254	10	0.72032	D	0.01	-23.8967	16.5655	0.84588	1.0:0.0:0.0:0.0	.	572	Q9ULM3	YETS2_HUMAN	M	572	ENSP00000306983:K572M	ENSP00000306983:K572M	K	+	2	0	YEATS2	184962047	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.742000	0.74843	2.302000	0.77476	0.533000	0.62120	AAG		0.413	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		38	82	0	0	0	1	0	38	82				
TTN	7273	broad.mit.edu	37	2	179588653	179588653	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:179588653C>T	ENST00000591111.1	-	71	20606	c.20382G>A	c.(20380-20382)atG>atA	p.M6794I	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.M5867I|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.M7111I			Q8WZ42	TITIN_HUMAN	titin	12392	Ig-like 49.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTAATTGCCCATATCTGAGG	0.423																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(21331-21333)atG>atA		titin							123.0	118.0	119.0					2																	179588653		1996	4185	6181	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179588653C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.20382G>A	2.37:g.179588653C>T	ENSP00000465570:p.Met6794Ile					TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.M5867I|TTN_ENST00000342175.6_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.M6794I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	p.M7111I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		73	21557	-			6794			Ig-like 53.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.21333G>A		.	.	.	.	.	.	.	.	.	.	C	4.654	0.121524	0.08881	.	.	ENSG00000155657	ENST00000342992	T	0.68181	-0.31	5.92	3.99	0.46301	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.55862	0.1947	L	0.41710	1.295	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.57854	-0.7739	9	0.87932	D	0	.	9.6471	0.39875	0.2301:0.6948:0.0:0.0751	.	6794	Q8WZ42	TITIN_HUMAN	I	5867	ENSP00000343764:M5867I	ENSP00000343764:M5867I	M	-	3	0	TTN	179296898	0.424000	0.25490	0.999000	0.59377	0.049000	0.14656	0.973000	0.29422	2.818000	0.97014	0.655000	0.94253	ATG		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		21	63	0	0	0	1	0	21	63				
AUTS2	26053	broad.mit.edu	37	7	70255493	70255493	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:70255493G>C	ENST00000342771.4	+	19	3612	c.3291G>C	c.(3289-3291)agG>agC	p.R1097S	AUTS2_ENST00000406775.2_Missense_Mutation_p.R1073S	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1097										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		TCCTGCTAAGGAACGACCCGC	0.637																																						ENST00000342771.4																			0				breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50						c.(3289-3291)agG>agC		autism susceptibility candidate 2							16.0	19.0	18.0					7																	70255493		2203	4300	6503	SO:0001583	missense	26053							g.chr7:70255493G>C	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.3291G>C	7.37:g.70255493G>C	ENSP00000344087:p.Arg1097Ser					AUTS2_ENST00000406775.2_Missense_Mutation_p.R1073S	p.R1097S	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	19	3612	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	1097					A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	c.3291G>C	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.437398	0.43224	.	.	ENSG00000158321	ENST00000406775;ENST00000342771	T;T	0.57752	0.44;0.38	4.96	1.8	0.24995	.	0.093504	0.64402	D	0.000001	T	0.41442	0.1159	L	0.52905	1.665	0.80722	D	1	B;P;P	0.47910	0.161;0.902;0.902	B;B;B	0.39840	0.073;0.311;0.311	T	0.18650	-1.0330	9	.	.	.	-11.3106	7.169	0.25708	0.1459:0.4201:0.434:0.0	.	549;1073;1097	B4DLG0;Q8WXX7-2;Q8WXX7	.;.;AUTS2_HUMAN	S	1073;1097	ENSP00000385263:R1073S;ENSP00000344087:R1097S	.	R	+	3	2	AUTS2	69893429	1.000000	0.71417	0.082000	0.20525	0.928000	0.56348	1.546000	0.36179	0.443000	0.26582	0.655000	0.94253	AGG		0.637	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			5	5	0	0	0	1	0	5	5				
ZNF582	147948	broad.mit.edu	37	19	56901748	56901748	+	Silent	SNP	T	T	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:56901748T>C	ENST00000301310.4	-	3	290	c.132A>G	c.(130-132)tcA>tcG	p.S44S	ZNF582_ENST00000586929.1_Silent_p.S44S|AC006116.12_ENST00000589671.1_RNA	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	44	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		CCTTACCCAGTGAGACCAGGT	0.488																																					Ovarian(183;1887 2032 4349 30507 51343)	ENST00000301310.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(130-132)tcA>tcG		zinc finger protein 582							188.0	155.0	166.0					19																	56901748		2203	4300	6503	SO:0001819	synonymous_variant	147948				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56901748T>C	AK055489	CCDS33121.1	19q13.43	2013-07-15			ENSG00000018869	ENSG00000018869		"""Zinc fingers, C2H2-type"", ""-"""	26421	protein-coding gene	gene with protein product		615600				12477932	Standard	NM_144690		Approved	FLJ30927	uc002qmz.1	Q96NG8	OTTHUMG00000181939	ENST00000301310.4:c.132A>G	19.37:g.56901748T>C						ZNF582_ENST00000586929.1_Silent_p.S44S	p.S44S	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN		GBM - Glioblastoma multiforme(193;0.0547)	3	290	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	44			KRAB.		B4DQZ9|B7Z9R3|Q6PJT6	Silent	SNP	ENST00000301310.4	37	c.132A>G	CCDS33121.1																																																																																				0.488	ZNF582-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458387.2	NM_144690		38	73	0	0	0	1	0	38	73				
IMPA1	3612	broad.mit.edu	37	8	82591364	82591364	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr8:82591364T>C	ENST00000256108.5	-	4	764	c.299A>G	c.(298-300)cAt>cGt	p.H100R	IMPA1_ENST00000523710.1_5'UTR|IMPA1_ENST00000311489.4_Missense_Mutation_p.H100R|IMPA1_ENST00000449740.2_Missense_Mutation_p.H159R	NM_005536.3	NP_005527.1	P29218	IMPA1_HUMAN	inositol(myo)-1(or 4)-monophosphatase 1	100					inositol biosynthetic process (GO:0006021)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|inositol monophosphate phosphatase activity (GO:0052834)|lithium ion binding (GO:0031403)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|stomach(1)	18					Lithium(DB01356)	AACATACCTATGTACAAAGTT	0.338																																						ENST00000256108.5																			0				NS(1)|cervix(1)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|stomach(1)	18						c.(298-300)cAt>cGt		inositol(myo)-1(or 4)-monophosphatase 1	Lithium(DB01356)						92.0	94.0	93.0					8																	82591364		2203	4300	6503	SO:0001583	missense	3612				inositol phosphate dephosphorylation|phosphatidylinositol biosynthetic process|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity	g.chr8:82591364T>C		CCDS6231.1, CCDS47883.1, CCDS47884.1	8q21.1-q21.3	2008-01-28			ENSG00000133731	ENSG00000133731	3.1.3.25		6050	protein-coding gene	gene with protein product		602064		IMPA		1377913	Standard	NM_005536		Approved		uc011lfq.1	P29218	OTTHUMG00000164682	ENST00000256108.5:c.299A>G	8.37:g.82591364T>C	ENSP00000256108:p.His100Arg					IMPA1_ENST00000311489.4_Missense_Mutation_p.H100R|IMPA1_ENST00000523710.1_5'UTR|IMPA1_ENST00000449740.2_Missense_Mutation_p.H159R	p.H100R	NM_005536.3	NP_005527.1	P29218	IMPA1_HUMAN			4	764	-			100					B2R733|B4DLN3|B7Z6Q4|J3KQT7|Q9UK71	Missense_Mutation	SNP	ENST00000256108.5	37	c.299A>G	CCDS6231.1	.	.	.	.	.	.	.	.	.	.	T	15.96	2.986194	0.53934	.	.	ENSG00000133731	ENST00000256108;ENST00000311489;ENST00000449740;ENST00000519964;ENST00000522997;ENST00000518202	T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.67543	0.2904	M	0.86097	2.795	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.73477	-0.3970	10	0.62326	D	0.03	.	14.145	0.65344	0.0:0.0:0.0:1.0	.	100;159;100	B4DLN3;B7Z6Q4;P29218	.;.;IMPA1_HUMAN	R	100;100;159;92;159;100	ENSP00000256108:H100R;ENSP00000311803:H100R;ENSP00000408526:H159R;ENSP00000429322:H92R;ENSP00000430081:H159R;ENSP00000429516:H100R	ENSP00000256108:H100R	H	-	2	0	IMPA1	82753919	1.000000	0.71417	0.908000	0.35775	0.260000	0.26232	7.163000	0.77524	1.803000	0.52742	0.448000	0.29417	CAT		0.338	IMPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379723.1			22	32	0	0	0	1	0	22	32				
PAPPA2	60676	broad.mit.edu	37	1	176675542	176675542	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:176675542G>C	ENST00000367662.3	+	10	4577	c.3413G>C	c.(3412-3414)gGc>gCc	p.G1138A		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1138					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGCGGAGATGGCTGCTCCAAG	0.403																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(3412-3414)gGc>gCc		pappalysin 2							206.0	212.0	210.0					1																	176675542		1944	4149	6093	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176675542G>C	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.3413G>C	1.37:g.176675542G>C	ENSP00000356634:p.Gly1138Ala						p.G1138A	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			10	4577	+			1138					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.3413G>C	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.345794	0.82022	.	.	ENSG00000116183	ENST00000367662	T	0.53640	0.61	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.74749	0.3757	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78819	-0.2054	10	0.87932	D	0	-25.4062	19.3348	0.94312	0.0:0.0:1.0:0.0	.	1138	Q9BXP8	PAPP2_HUMAN	A	1138	ENSP00000356634:G1138A	ENSP00000356634:G1138A	G	+	2	0	PAPPA2	174942165	1.000000	0.71417	0.998000	0.56505	0.483000	0.33249	9.195000	0.94971	2.660000	0.90430	0.655000	0.94253	GGC		0.403	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			4	26	0	0	0	1	0	4	26				
CHD7	55636	broad.mit.edu	37	8	61765575	61765575	+	Silent	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr8:61765575C>T	ENST00000423902.2	+	31	6770	c.6291C>T	c.(6289-6291)gaC>gaT	p.D2097D	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2097			D -> G (in patients with CHARGES; unknown pathological significance). {ECO:0000269|PubMed:22461308}.		adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GACGGCATGACCGAGACTTGC	0.547																																						ENST00000423902.2																			0				NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123						c.(6289-6291)gaC>gaT		chromodomain helicase DNA binding protein 7							95.0	106.0	102.0					8																	61765575		2083	4213	6296	SO:0001819	synonymous_variant	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61765575C>T	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.6291C>T	8.37:g.61765575C>T						CHD7_ENST00000524602.1_Intron	p.D2097D	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		31	6770	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	2097					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	ENST00000423902.2	37	c.6291C>T	CCDS47865.1																																																																																				0.547	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		25	41	0	0	0	1	0	25	41				
EXOC6	54536	broad.mit.edu	37	10	94773979	94773979	+	Silent	SNP	A	A	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr10:94773979A>G	ENST00000260762.6	+	20	2138	c.2124A>G	c.(2122-2124)ggA>ggG	p.G708G	EXOC6_ENST00000443748.2_Silent_p.G605G|EXOC6_ENST00000371547.4_Silent_p.G724G|EXOC6_ENST00000371552.4_Silent_p.G703G	NM_019053.4	NP_061926.3	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	708					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				CTGTGCCAGGATTCCAGGGGG	0.378																																						ENST00000371552.4																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26						c.(2107-2109)ggA>ggG		exocyst complex component 6							88.0	90.0	89.0					10																	94773979		2203	4300	6503	SO:0001819	synonymous_variant	54536				protein transport|vesicle docking involved in exocytosis	exocyst		g.chr10:94773979A>G	BC028395	CCDS7424.2, CCDS31247.1	10q23.33	2013-01-22	2006-11-07	2006-11-07	ENSG00000138190	ENSG00000138190			23196	protein-coding gene	gene with protein product		609672	"""SEC15-like 1 (S. cerevisiae)"""	SEC15L1		8889548	Standard	NM_001013848		Approved	SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A	uc001kig.3	Q8TAG9	OTTHUMG00000018767	ENST00000260762.6:c.2124A>G	10.37:g.94773979A>G						EXOC6_ENST00000371547.4_Silent_p.G724G|EXOC6_ENST00000260762.6_Silent_p.G708G|EXOC6_ENST00000443748.2_Silent_p.G605G	p.G703G	NM_001013848.2	NP_001013870.1	Q8TAG9	EXOC6_HUMAN			20	2138	+		Colorectal(252;0.123)	708					E9PHI3|Q5VXH8|Q9NZ24	Silent	SNP	ENST00000260762.6	37	c.2109A>G	CCDS7424.2																																																																																				0.378	EXOC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049410.2	NM_019053		15	39	0	0	0	1	0	15	39				
ELTD1	64123	broad.mit.edu	37	1	79385874	79385874	+	Silent	SNP	A	A	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:79385874A>T	ENST00000370742.3	-	10	1518	c.1455T>A	c.(1453-1455)acT>acA	p.T485T		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	485					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)		ATACCTTATTAGTATTTGTAT	0.313																																						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.(1453-1455)acT>acA		EGF, latrophilin and seven transmembrane domain containing 1							67.0	63.0	64.0					1																	79385874		1819	4069	5888	SO:0001819	synonymous_variant	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79385874A>T	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.1455T>A	1.37:g.79385874A>T							p.T485T	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)	10	1518	-			485					B1AR71|Q5KU34	Silent	SNP	ENST00000370742.3	37	c.1455T>A	CCDS41352.1																																																																																				0.313	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		12	38	0	0	0	1	0	12	38				
TRMT44	152992	broad.mit.edu	37	4	8477672	8477672	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:8477672C>T	ENST00000389737.4	+	11	2218	c.2218C>T	c.(2218-2220)Cat>Tat	p.H740Y	TRMT44_ENST00000511366.2_3'UTR	NM_152544.2	NP_689757.2	Q8IYL2	TRM44_HUMAN	tRNA methyltransferase 44 homolog (S. cerevisiae)	740					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										CCCGTTTGCCCATGGGCCTGC	0.622																																						ENST00000389737.4																			0											c.(2218-2220)Cat>Tat		tRNA methyltransferase 44 homolog (S. cerevisiae)							104.0	113.0	110.0					4																	8477672		2203	4300	6503	SO:0001583	missense	152992							g.chr4:8477672C>T	AK093044	CCDS3402.1, CCDS3402.2	4p16.1	2012-06-12	2012-06-12	2012-06-12	ENSG00000155275	ENSG00000155275			26653	protein-coding gene	gene with protein product	"""tRNA methyltransferase 44 homolog (S. cerevisiae)"""	614309	"""chromosome 4 open reading frame 23"", ""methyltransferase like 19"""	C4orf23, METTL19		21658913	Standard	NM_152544		Approved	FLJ35725, TRM44	uc003glg.2	Q8IYL2	OTTHUMG00000160935	ENST00000389737.4:c.2218C>T	4.37:g.8477672C>T	ENSP00000374387:p.His740Tyr					TRMT44_ENST00000511366.2_3'UTR	p.H740Y	NM_152544.2	NP_689757.2					11	2218	+								Q8NA95	Missense_Mutation	SNP	ENST00000389737.4	37	c.2218C>T	CCDS3402.2	.	.	.	.	.	.	.	.	.	.	C	18.24	3.579186	0.65878	.	.	ENSG00000155275	ENST00000389737;ENST00000285635	T	0.54479	0.57	5.32	5.32	0.75619	Zinc finger, CCCH-type (1);	0.000000	0.85682	D	0.000000	T	0.78349	0.4269	M	0.89287	3.02	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.82786	-0.0285	10	0.87932	D	0	-24.5097	18.9856	0.92767	0.0:1.0:0.0:0.0	.	740	Q8IYL2	TRM44_HUMAN	Y	740;348	ENSP00000374387:H740Y	ENSP00000285635:H348Y	H	+	1	0	METTL19	8528572	1.000000	0.71417	0.986000	0.45419	0.028000	0.11728	6.589000	0.74080	2.492000	0.84095	0.655000	0.94253	CAT		0.622	TRMT44-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359197.2	NM_152544		16	103	0	0	0	1	0	16	103				
CYTH1	9267	broad.mit.edu	37	17	76692093	76692093	+	Splice_Site	SNP	T	T	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr17:76692093T>G	ENST00000446868.3	-	10	882		c.e10-2		RNU6-638P_ENST00000516582.1_RNA|CYTH1_ENST00000361101.4_Intron|CYTH1_ENST00000589297.1_Splice_Site|CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000585509.1_Splice_Site|CYTH1_ENST00000591455.1_Intron			Q15438	CYH1_HUMAN	cytohesin 1						establishment of epithelial cell polarity (GO:0090162)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						ACATACCTCCTGGAGTTTGGG	0.388																																						ENST00000589297.1																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						c.e10-2		cytohesin 1							81.0	80.0	80.0					17																	76692093		1937	4134	6071	SO:0001630	splice_region_variant	9267				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr17:76692093T>G	M85169	CCDS32754.1, CCDS42392.2	17q25	2014-05-02	2008-08-14	2008-08-14	ENSG00000108669	ENSG00000108669		"""Pleckstrin homology (PH) domain containing"""	9501	protein-coding gene	gene with protein product		182115	"""pleckstrin homology, Sec7 and coiled-coil domains 1"""	PSCD1		1511013, 8449036, 21628335, 20018626	Standard	XM_006722180		Approved	B2-1, D17S811E, cytohesin-1	uc002jvw.3	Q15438	OTTHUMG00000150253	ENST00000446868.3:c.812-2A>C	17.37:g.76692093T>G						CYTH1_ENST00000361101.4_Intron|CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000446868.3_Splice_Site|CYTH1_ENST00000591455.1_Intron|CYTH1_ENST00000585509.1_Splice_Site				Q15438	CYH1_HUMAN			10	1327	-								A6NFW7|B7Z1T4|Q9P123|Q9P124	Splice_Site	SNP	ENST00000446868.3	37			.	.	.	.	.	.	.	.	.	.	T	35	5.456932	0.96223	.	.	ENSG00000108669	ENST00000446868	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3309	0.74208	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CYTH1	74203688	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.639000	0.67868	2.254000	0.74563	0.533000	0.62120	.		0.388	CYTH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317099.1	NM_004762	Intron	14	20	0	0	0	1	0	14	20				
CTNND2	1501	broad.mit.edu	37	5	11082943	11082943	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr5:11082943G>A	ENST00000304623.8	-	16	2842	c.2653C>T	c.(2653-2655)Cga>Tga	p.R885*	CTNND2_ENST00000359640.2_Nonsense_Mutation_p.R827*|CTNND2_ENST00000503622.1_Nonsense_Mutation_p.R548*|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Nonsense_Mutation_p.R794*|CTNND2_ENST00000458100.2_Nonsense_Mutation_p.R452*	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	885					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						ACAGCGGCTCGGATATATACT	0.547																																						ENST00000304623.8																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						c.(2653-2655)Cga>Tga		catenin (cadherin-associated protein), delta 2							65.0	59.0	61.0					5																	11082943		2203	4300	6503	SO:0001587	stop_gained	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11082943G>A	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2653C>T	5.37:g.11082943G>A	ENSP00000307134:p.Arg885*					CTNND2_ENST00000458100.2_Nonsense_Mutation_p.R452*|CTNND2_ENST00000359640.2_Nonsense_Mutation_p.R827*|CTNND2_ENST00000503622.1_Nonsense_Mutation_p.R548*|CTNND2_ENST00000511377.1_Nonsense_Mutation_p.R794*|CTNND2_ENST00000495388.2_5'UTR	p.R885*	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN			16	2842	-			885					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Nonsense_Mutation	SNP	ENST00000304623.8	37	c.2653C>T	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	43	10.303578	0.99379	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	.	.	.	4.93	4.03	0.46877	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.3552	14.6618	0.68876	0.0:0.0:0.8532:0.1468	.	.	.	.	X	885;827;794;452;548	.	ENSP00000307134:R885X	R	-	1	2	CTNND2	11135943	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.845000	0.86875	1.157000	0.42530	0.563000	0.77884	CGA		0.547	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		6	49	0	0	0	1	0	6	49				
SBF1	6305	broad.mit.edu	37	22	50893510	50893510	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr22:50893510T>C	ENST00000390679.3	-	33	4722	c.4538A>G	c.(4537-4539)tAc>tGc	p.Y1513C	SBF1_ENST00000348911.6_Missense_Mutation_p.Y1514C|SBF1_ENST00000476293.1_5'Flank|SBF1_ENST00000380817.3_Missense_Mutation_p.Y1539C			O95248	MTMR5_HUMAN	SET binding factor 1	1513	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CACATGGTGGTAGCCGAGGAA	0.622																																						ENST00000380817.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(4615-4617)tAc>tGc		SET binding factor 1							44.0	51.0	49.0					22																	50893510		2110	4212	6322	SO:0001583	missense	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50893510T>C	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.4538A>G	22.37:g.50893510T>C	ENSP00000375097:p.Tyr1513Cys					SBF1_ENST00000390679.3_Missense_Mutation_p.Y1513C|SBF1_ENST00000348911.6_Missense_Mutation_p.Y1514C	p.Y1539C	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	34	4799	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1513			Myotubularin phosphatase.		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37	c.4616A>G		.	.	.	.	.	.	.	.	.	.	T	19.47	3.833141	0.71258	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000337034;ENST00000390679	D;D;D	0.93366	-3.21;-3.21;-3.21	3.74	3.74	0.42951	Myotubularin phosphatase domain (1);	0.494232	0.21288	N	0.077039	D	0.96756	0.8941	M	0.89353	3.025	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.81914	0.947;0.995;0.984	D	0.97180	0.9850	10	0.87932	D	0	.	12.5669	0.56314	0.0:0.0:0.0:1.0	.	1513;1539;72	O95248;O95248-4;A6PVG7	MTMR5_HUMAN;.;.	C	1539;1514;1549;1513	ENSP00000370196:Y1539C;ENSP00000252027:Y1514C;ENSP00000375097:Y1513C	ENSP00000336522:Y1549C	Y	-	2	0	SBF1	49240376	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.107000	0.50329	1.701000	0.51217	0.379000	0.24179	TAC		0.622	SBF1-201	KNOWN	basic	protein_coding	protein_coding				4	24	0	0	0	1	0	4	24				
ZNF804A	91752	broad.mit.edu	37	2	185800594	185800594	+	Silent	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:185800594G>T	ENST00000302277.6	+	4	1065	c.471G>T	c.(469-471)gtG>gtT	p.V157V		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	157							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GAGTTGTTGTGGATTCAGTTA	0.383																																						ENST00000302277.6																			0				NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						c.(469-471)gtG>gtT		zinc finger protein 804A							58.0	58.0	58.0					2																	185800594		2203	4300	6503	SO:0001819	synonymous_variant	91752					intracellular	zinc ion binding	g.chr2:185800594G>T	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.471G>T	2.37:g.185800594G>T							p.V157V	NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN			4	1065	+			157					A7E253|Q6ZN26	Silent	SNP	ENST00000302277.6	37	c.471G>T	CCDS2291.1																																																																																				0.383	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		18	45	1	0	2.35188e-11	1	3.02193e-11	18	45				
QARS	5859	broad.mit.edu	37	3	49137814	49137814	+	Splice_Site	SNP	T	T	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:49137814T>G	ENST00000306125.6	-	12	1391	c.1054A>C	c.(1054-1056)Agg>Cgg	p.R352R	QARS_ENST00000470225.1_5'UTR|QARS_ENST00000414533.1_Splice_Site_p.R341R			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	352					brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	TGGCCTTACCTGCGGATGAGC	0.537																																						ENST00000306125.6																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19						c.e12+1		glutaminyl-tRNA synthetase	L-Glutamine(DB00130)						72.0	63.0	66.0					3																	49137814		2203	4300	6503	SO:0001630	splice_region_variant	5859				glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding	g.chr3:49137814T>G	X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"""Aminoacyl tRNA synthetases / Class I"""	9751	protein-coding gene	gene with protein product	"""glutamine tRNA ligase"""	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.1055+1A>C	3.37:g.49137814T>G						QARS_ENST00000414533.1_Splice_Site_p.R341_splice|QARS_ENST00000470225.1_5'UTR	p.R352_splice			P47897	SYQ_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	12	1391	-			352					B4DWJ2	Splice_Site	SNP	ENST00000306125.6	37	c.1055_splice	CCDS2788.1																																																																																				0.537	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345689.2	NM_005051	Silent	3	15	0	0	0	1	0	3	15				
PCLO	27445	broad.mit.edu	37	7	82546068	82546068	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:82546068G>T	ENST00000333891.9	-	7	11571	c.11234C>A	c.(11233-11235)aCa>aAa	p.T3745K	PCLO_ENST00000423517.2_Missense_Mutation_p.T3745K|PCLO_ENST00000437081.1_Missense_Mutation_p.T465K	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CCTGGAAACTGTGCCCATTGT	0.478																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(11233-11235)aCa>aAa		piccolo presynaptic cytomatrix protein							139.0	122.0	127.0					7																	82546068		1888	4136	6024	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82546068G>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.11234C>A	7.37:g.82546068G>T	ENSP00000334319:p.Thr3745Lys					PCLO_ENST00000333891.8_Missense_Mutation_p.T3745K|PCLO_ENST00000437081.1_Missense_Mutation_p.T465K	p.T3745K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			7	11571	-			3676						Missense_Mutation	SNP	ENST00000333891.9	37	c.11234C>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.951917	0.73787	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.15952	2.38;2.38	5.67	5.67	0.87782	.	.	.	.	.	T	0.16257	0.0391	L	0.36672	1.1	0.48236	D	0.999612	B;P;P	0.41848	0.112;0.763;0.763	B;B;B	0.33960	0.024;0.173;0.173	T	0.01889	-1.1253	9	0.87932	D	0	.	19.8349	0.96652	0.0:0.0:1.0:0.0	.	3676;3745;3745	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	K	3745;3745;465	ENSP00000334319:T3745K;ENSP00000388393:T3745K	ENSP00000334319:T3745K	T	-	2	0	PCLO	82384004	1.000000	0.71417	0.972000	0.41901	0.997000	0.91878	7.831000	0.86748	2.691000	0.91804	0.558000	0.71614	ACA		0.478	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		18	61	1	0	3.41278e-10	1	4.27546e-10	18	61				
SEMA3E	9723	broad.mit.edu	37	7	83021872	83021872	+	Splice_Site	SNP	T	T	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:83021872T>G	ENST00000307792.3	-	14	2133	c.1666A>C	c.(1666-1668)Agg>Cgg	p.R556R	SEMA3E_ENST00000427262.1_Splice_Site_p.R496R	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	556					axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				ACGTCTCACCTTTTTGCATGT	0.438																																						ENST00000307792.3																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51						c.e14+1		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E							99.0	87.0	91.0					7																	83021872		2203	4300	6503	SO:0001630	splice_region_variant	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:83021872T>G	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.1667+1A>C	7.37:g.83021872T>G						SEMA3E_ENST00000427262.1_Splice_Site_p.R496_splice	p.R556_splice	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN			14	2133	-		Medulloblastoma(109;0.109)	556					B4E1P1|Q75M94|Q75M97	Splice_Site	SNP	ENST00000307792.3	37	c.1667_splice	CCDS34674.1																																																																																				0.438	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431	Silent	13	41	0	0	0	1	0	13	41				
LAMA2	3908	broad.mit.edu	37	6	129621910	129621910	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:129621910T>A	ENST00000421865.2	+	22	3116	c.3067T>A	c.(3067-3069)Tgt>Agt	p.C1023S		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1023	Laminin EGF-like 11. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GGGTAATAATTGTGACCCAAA	0.423																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(3067-3069)Tgt>Agt		laminin, alpha 2							115.0	115.0	115.0					6																	129621910		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129621910T>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.3067T>A	6.37:g.129621910T>A	ENSP00000400365:p.Cys1023Ser						p.C1023S	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	22	3116	+			1023			Laminin EGF-like 11.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.3067T>A	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.739143	0.89573	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	D	0.94280	-3.39	5.4	5.4	0.78164	EGF-like, laminin (3);	0.000000	0.85682	D	0.000000	D	0.98115	0.9378	H	0.98980	4.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99782	1.1028	10	0.87932	D	0	.	15.4251	0.75045	0.0:0.0:0.0:1.0	.	1023;1023	A6NF00;P24043	.;LAMA2_HUMAN	S	1023	ENSP00000400365:C1023S	ENSP00000346769:C1023S	C	+	1	0	LAMA2	129663603	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	7.694000	0.84235	2.035000	0.60131	0.477000	0.44152	TGT		0.423	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			24	55	0	0	0	1	0	24	55				
NRXN3	9369	broad.mit.edu	37	14	80164140	80164140	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr14:80164140C>A	ENST00000557594.1	+	4	1722	c.769C>A	c.(769-771)Ctg>Atg	p.L257M	NRXN3_ENST00000554719.1_Missense_Mutation_p.L889M|NRXN3_ENST00000556003.1_Intron|NRXN3_ENST00000281127.7_Missense_Mutation_p.L257M|RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000335750.5_Missense_Mutation_p.L889M|NRXN3_ENST00000428277.2_Missense_Mutation_p.L287M	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	257					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AAGTGTTCGGCTGGTTGGAGA	0.458																																						ENST00000281127.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104						c.(769-771)Ctg>Atg		neurexin 3							104.0	92.0	96.0					14																	80164140		2203	4300	6503	SO:0001583	missense	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:80164140C>A	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.769C>A	14.37:g.80164140C>A	ENSP00000451672:p.Leu257Met					NRXN3_ENST00000335750.5_Missense_Mutation_p.L889M|RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000554719.1_Missense_Mutation_p.L889M|NRXN3_ENST00000556003.1_Intron|NRXN3_ENST00000428277.2_Missense_Mutation_p.L287M|NRXN3_ENST00000557594.1_Missense_Mutation_p.L257M	p.L257M	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	4	1648	+		Renal(4;0.00876)	257					A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000557594.1	37	c.769C>A		.	.	.	.	.	.	.	.	.	.	C	16.99	3.273664	0.59649	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750;ENST00000557594;ENST00000281127;ENST00000428277	T;T;T;T;T	0.71934	-0.61;-0.61;1.0;1.23;0.88	5.67	5.67	0.87782	Concanavalin A-like lectin/glucanase (1);	0.080710	0.50627	D	0.000102	D	0.83280	0.5220	M	0.67397	2.05	0.50171	D	0.999859	D;D;D;D	0.76494	0.985;0.997;0.999;0.995	D;D;D;D	0.74348	0.92;0.965;0.983;0.983	T	0.81856	-0.0740	9	.	.	.	.	19.7368	0.96210	0.0:1.0:0.0:0.0	.	287;257;257;889	Q9HDB5-4;Q9HDB5-2;Q9HDB5;Q9Y4C0-3	.;.;NRX3B_HUMAN;.	M	1262;1281;889;889;257;257;287	ENSP00000451648:L889M;ENSP00000338349:L889M;ENSP00000451672:L257M;ENSP00000281127:L257M;ENSP00000394426:L287M	.	L	+	1	2	NRXN3	79233893	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.970000	0.63742	2.667000	0.90743	0.557000	0.71058	CTG		0.458	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	NM_001105250		26	59	1	0	6.32553e-13	1	8.34156e-13	26	59				
KIF13B	23303	broad.mit.edu	37	8	29006204	29006204	+	Missense_Mutation	SNP	G	G	A	rs536296566		TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr8:29006204G>A	ENST00000524189.1	-	16	1741	c.1703C>T	c.(1702-1704)tCt>tTt	p.S568F	KIF13B_ENST00000521515.1_Missense_Mutation_p.S568F	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	568					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CAGCTGCTCAGAACTATTCTC	0.463																																						ENST00000524189.1																			0				endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28						c.(1702-1704)tCt>tTt		kinesin family member 13B							174.0	169.0	170.0					8																	29006204		1941	4153	6094	SO:0001583	missense	23303				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding	g.chr8:29006204G>A	AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.1703C>T	8.37:g.29006204G>A	ENSP00000427900:p.Ser568Phe					KIF13B_ENST00000521515.1_Missense_Mutation_p.S568F	p.S568F	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)	16	1741	-		Ovarian(32;0.000536)	568					B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	ENST00000524189.1	37	c.1703C>T	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	G	6.006	0.369544	0.11352	.	.	ENSG00000197892	ENST00000524189;ENST00000521515	T;T	0.77098	-1.07;-1.02	5.01	3.16	0.36331	.	0.691433	0.15018	N	0.285175	T	0.58807	0.2148	N	0.16478	0.41	0.09310	N	1	B;B;B	0.15141	0.006;0.007;0.012	B;B;B	0.16289	0.003;0.01;0.015	T	0.47548	-0.9109	10	0.44086	T	0.13	.	4.7305	0.12962	0.1878:0.0:0.6176:0.1946	.	554;568;568	C9JK41;Q9NQT8;F8VPJ2	.;KI13B_HUMAN;.	F	568	ENSP00000427900:S568F;ENSP00000429201:S568F	ENSP00000429201:S568F	S	-	2	0	KIF13B	29062123	0.004000	0.15560	0.344000	0.25628	0.332000	0.28634	0.187000	0.16998	1.436000	0.47453	0.561000	0.74099	TCT		0.463	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			21	43	0	0	0	1	0	21	43				
MROH2B	133558	broad.mit.edu	37	5	41019000	41019000	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr5:41019000G>T	ENST00000399564.4	-	25	3012	c.2562C>A	c.(2560-2562)gaC>gaA	p.D854E	MROH2B_ENST00000506092.2_Missense_Mutation_p.D409E	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	854																	TGTGCTCCTTGTCCTTGTCTG	0.498																																						ENST00000399564.4																			0											c.(2560-2562)gaC>gaA		maestro heat-like repeat family member 2B							116.0	114.0	114.0					5																	41019000		2028	4191	6219	SO:0001583	missense	133558							g.chr5:41019000G>T		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.2562C>A	5.37:g.41019000G>T	ENSP00000382476:p.Asp854Glu					MROH2B_ENST00000506092.2_Missense_Mutation_p.D409E	p.D854E	NM_173489.4	NP_775760.3					25	3012	-								Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.2562C>A	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.064732	0.55432	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.68331	-0.32;-0.32	6.02	4.23	0.50019	Armadillo-type fold (1);	0.000000	0.64402	D	0.000006	T	0.72236	0.3435	L	0.49350	1.555	0.31174	N	0.702882	D	0.89917	1.0	D	0.83275	0.996	T	0.68458	-0.5403	10	0.15066	T	0.55	.	9.4965	0.38991	0.1655:0.0:0.8345:0.0	.	854	Q7Z745	HTRB2_HUMAN	E	409;559;854	ENSP00000441504:D409E;ENSP00000382476:D854E	ENSP00000296803:D559E	D	-	3	2	HEATR7B2	41054757	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	1.193000	0.32162	1.566000	0.49654	0.655000	0.94253	GAC		0.498	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		8	39	1	0	0.000157383	1	0.000166619	8	39				
STAG3	10734	broad.mit.edu	37	7	99787212	99787212	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:99787212G>T	ENST00000426455.1	+	8	1267	c.860G>T	c.(859-861)cGc>cTc	p.R287L	STAG3_ENST00000317296.5_Missense_Mutation_p.R287L|STAG3_ENST00000394018.2_Missense_Mutation_p.R229L	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	287					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTGGAGAAACGCAAAGAGGTG	0.547																																						ENST00000426455.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66						c.(859-861)cGc>cTc		stromal antigen 3							128.0	144.0	138.0					7																	99787212		2203	4300	6503	SO:0001583	missense	10734				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	g.chr7:99787212G>T	AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.860G>T	7.37:g.99787212G>T	ENSP00000400359:p.Arg287Leu					STAG3_ENST00000317296.5_Missense_Mutation_p.R287L|STAG3_ENST00000394018.2_Missense_Mutation_p.R229L	p.R287L			Q9UJ98	STAG3_HUMAN			8	1267	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		287					A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Missense_Mutation	SNP	ENST00000426455.1	37	c.860G>T	CCDS34703.1	.	.	.	.	.	.	.	.	.	.	.	24.6	4.548064	0.86022	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000339784;ENST00000317296	T;T;T	0.42131	0.98;0.98;0.98	5.37	4.47	0.54385	STAG (1);	0.126644	0.36409	N	0.002602	T	0.47507	0.1449	M	0.66297	2.02	0.40493	D	0.980563	P;B	0.47302	0.893;0.06	P;B	0.48982	0.597;0.097	T	0.52049	-0.8627	10	0.87932	D	0	-14.2656	8.4658	0.32956	0.1686:0.0:0.8314:0.0	.	229;287	B4DZ10;Q9UJ98	.;STAG3_HUMAN	L	287;229;245;287	ENSP00000400359:R287L;ENSP00000377586:R229L;ENSP00000319318:R287L	ENSP00000319318:R287L	R	+	2	0	STAG3	99625148	0.074000	0.21230	1.000000	0.80357	0.946000	0.59487	2.125000	0.42016	2.788000	0.95919	0.650000	0.86243	CGC		0.547	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447		24	78	1	0	3.08376e-08	1	3.63127e-08	24	78				
RIMS3	9783	broad.mit.edu	37	1	41094945	41094945	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:41094945G>C	ENST00000372684.3	-	6	1041	c.572C>G	c.(571-573)cCa>cGa	p.P191R	RIMS3_ENST00000372683.1_Missense_Mutation_p.P191R	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	191	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			TCCCTCACCTGGGAGGGATTT	0.592																																						ENST00000372684.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(571-573)cCa>cGa		regulating synaptic membrane exocytosis 3							59.0	65.0	63.0					1																	41094945		2203	4300	6503	SO:0001583	missense	9783				neurotransmitter transport	cell junction|synapse		g.chr1:41094945G>C	BC003103	CCDS30687.1	1p34.2	2013-09-19			ENSG00000117016	ENSG00000117016			21292	protein-coding gene	gene with protein product		611600				12620390, 10748113	Standard	NM_014747		Approved	RIM3, NIM3	uc001cfu.1	Q9UJD0	OTTHUMG00000007453	ENST00000372684.3:c.572C>G	1.37:g.41094945G>C	ENSP00000361769:p.Pro191Arg					RIMS3_ENST00000372683.1_Missense_Mutation_p.P191R	p.P191R	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)		6	1041	-	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	191			C2.		D3DPV8|Q92511|X5D7U7	Missense_Mutation	SNP	ENST00000372684.3	37	c.572C>G	CCDS30687.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.699889	0.88924	.	.	ENSG00000117016	ENST00000372684;ENST00000372683	T;T	0.70282	-0.47;-0.47	5.58	5.58	0.84498	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.85509	0.5713	M	0.84156	2.68	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87279	0.2291	10	0.87932	D	0	-24.3082	17.0471	0.86507	0.0:0.0:1.0:0.0	.	191	Q9UJD0	RIMS3_HUMAN	R	191	ENSP00000361769:P191R;ENSP00000361768:P191R	ENSP00000361768:P191R	P	-	2	0	RIMS3	40867532	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	9.770000	0.98971	2.634000	0.89283	0.491000	0.48974	CCA		0.592	RIMS3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019585.1	NM_014747		13	53	0	0	0	1	0	13	53				
AFF3	3899	broad.mit.edu	37	2	100210155	100210155	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:100210155G>T	ENST00000409236.2	-	13	2080	c.1968C>A	c.(1966-1968)agC>agA	p.S656R	AFF3_ENST00000409579.1_Missense_Mutation_p.S681R|AFF3_ENST00000356421.2_Missense_Mutation_p.S681R|AFF3_ENST00000317233.4_Missense_Mutation_p.S656R			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	656					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GGACGATCCTGCTTAGCCCCC	0.617																																						ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(1966-1968)agC>agA		AF4/FMR2 family, member 3							67.0	72.0	70.0					2																	100210155		2203	4300	6503	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100210155G>T	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1968C>A	2.37:g.100210155G>T	ENSP00000387207:p.Ser656Arg					AFF3_ENST00000409236.1_Missense_Mutation_p.S656R|AFF3_ENST00000356421.2_Missense_Mutation_p.S681R|AFF3_ENST00000409579.1_Missense_Mutation_p.S681R	p.S656R	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			14	2203	-			656					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.1968C>A	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.934021	0.73442	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	5.17	5.17	0.71159	.	0.099352	0.44688	D	0.000422	T	0.70894	0.3276	L	0.60845	1.875	0.35932	D	0.832601	P;D;P	0.54397	0.934;0.966;0.773	P;P;B	0.57679	0.643;0.825;0.316	T	0.79259	-0.1877	10	0.72032	D	0.01	.	13.0264	0.58817	0.0776:0.0:0.9224:0.0	.	809;656;681	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	R	656;681;681;656;656;809;681	ENSP00000317421:S656R;ENSP00000348793:S681R;ENSP00000386834:S681R;ENSP00000387207:S656R	ENSP00000317421:S656R	S	-	3	2	AFF3	99576587	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	2.837000	0.48191	2.426000	0.82243	0.561000	0.74099	AGC		0.617	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		25	61	1	0	9.57634e-11	1	1.2064e-10	25	61				
ZNF440	126070	broad.mit.edu	37	19	11943668	11943668	+	Silent	SNP	A	A	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:11943668A>G	ENST00000304060.5	+	4	1841	c.1677A>G	c.(1675-1677)gaA>gaG	p.E559E		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	559					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ACACCTTTGAATACGTGGTAG	0.478																																						ENST00000304060.5																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1675-1677)gaA>gaG		zinc finger protein 440							63.0	65.0	64.0					19																	11943668		2196	4292	6488	SO:0001819	synonymous_variant	126070				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11943668A>G	AK095252	CCDS42503.1	19p13.13	2013-01-08	2006-08-14	2006-08-14	ENSG00000171295	ENSG00000171295		"""Zinc fingers, C2H2-type"", ""-"""	20874	protein-coding gene	gene with protein product							Standard	NM_152357		Approved	FLJ37933	uc002msp.1	Q8IYI8	OTTHUMG00000156403	ENST00000304060.5:c.1677A>G	19.37:g.11943668A>G							p.E559E	NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN			4	1841	+			559					Q8N1R9	Silent	SNP	ENST00000304060.5	37	c.1677A>G	CCDS42503.1																																																																																				0.478	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344508.1	NM_152357		19	44	0	0	0	1	0	19	44				
RHAG	6005	broad.mit.edu	37	6	49580244	49580244	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:49580244G>T	ENST00000371175.4	-	6	837	c.811C>A	c.(811-813)Cac>Aac	p.H271N	RHAG_ENST00000229810.7_Missense_Mutation_p.H271N	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	271					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|carbon dioxide transport (GO:0015670)|cellular ion homeostasis (GO:0006873)|erythrocyte development (GO:0048821)|multicellular organismal iron ion homeostasis (GO:0060586)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					TTCTGAATGTGAACCTGTGTG	0.473																																					Ovarian(176;476 2003 7720 43408 44749)	ENST00000371175.4																			0				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39						c.(811-813)Cac>Aac		Rh-associated glycoprotein							73.0	63.0	67.0					6																	49580244		2203	4300	6503	SO:0001583	missense	6005				carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr6:49580244G>T		CCDS4927.1	6p12.3	2014-07-19	2006-02-23		ENSG00000112077	ENSG00000112077		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	10006	protein-coding gene	gene with protein product		180297	"""Rhesus blood group-associated glycoprotein"""			9479501	Standard	NM_000324		Approved	RH50A, CD241, SLC42A1	uc003ozk.4	Q02094	OTTHUMG00000016377	ENST00000371175.4:c.811C>A	6.37:g.49580244G>T	ENSP00000360217:p.His271Asn					RHAG_ENST00000229810.7_Missense_Mutation_p.H271N	p.H271N	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN			6	837	-	Lung NSC(77;0.0255)		271					B2R8T8|O43514|O43515|Q7L8L3|Q9H454	Missense_Mutation	SNP	ENST00000371175.4	37	c.811C>A	CCDS4927.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.781985	0.90282	.	.	ENSG00000112077	ENST00000371175;ENST00000229810;ENST00000418071;ENST00000539403	T;T	0.24723	1.84;1.84	5.54	5.54	0.83059	Ammonium transporter AmtB-like (3);	0.043572	0.85682	D	0.000000	T	0.60090	0.2242	H	0.95645	3.7	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.81914	0.995;0.995;0.995	T	0.73251	-0.4042	10	0.87932	D	0	-18.2944	18.4694	0.90767	0.0:0.0:1.0:0.0	.	271;271;271	O43515;Q9UHG9;Q02094	.;.;RHAG_HUMAN	N	271	ENSP00000360217:H271N;ENSP00000229810:H271N	ENSP00000229810:H271N	H	-	1	0	RHAG	49688203	1.000000	0.71417	0.998000	0.56505	0.904000	0.53231	9.824000	0.99380	2.600000	0.87896	0.655000	0.94253	CAC		0.473	RHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043806.1			9	41	1	0	0.000442599	1	0.000463138	9	41				
EYS	346007	broad.mit.edu	37	6	66200507	66200507	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:66200507T>A	ENST00000370621.3	-	5	1368	c.842A>T	c.(841-843)gAa>gTa	p.E281V	EYS_ENST00000370618.3_Missense_Mutation_p.E281V|EYS_ENST00000370616.2_Missense_Mutation_p.E281V|EYS_ENST00000393380.2_Missense_Mutation_p.E281V|EYS_ENST00000503581.1_Missense_Mutation_p.E281V|EYS_ENST00000342421.5_Missense_Mutation_p.E281V			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	281	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CTCATCACATTCACAAATGAA	0.294																																						ENST00000503581.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						c.(841-843)gAa>gTa		eyes shut homolog (Drosophila)							65.0	60.0	62.0					6																	66200507		2203	4295	6498	SO:0001583	missense	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66200507T>A		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.842A>T	6.37:g.66200507T>A	ENSP00000359655:p.Glu281Val					EYS_ENST00000342421.5_Missense_Mutation_p.E281V|EYS_ENST00000393380.2_Missense_Mutation_p.E281V|EYS_ENST00000370616.2_Missense_Mutation_p.E281V|EYS_ENST00000370618.3_Missense_Mutation_p.E281V|EYS_ENST00000370621.3_Missense_Mutation_p.E281V	p.E281V	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN			5	1379	-			281			EGF-like 3.		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37	c.842A>T		.	.	.	.	.	.	.	.	.	.	T	7.366	0.625887	0.14257	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34;-2.34;-2.34	4.54	3.34	0.38264	.	.	.	.	.	T	0.79305	0.4423	L	0.27053	0.805	0.25587	N	0.986737	D;D;D	0.67145	0.989;0.996;0.994	P;D;P	0.65573	0.801;0.936;0.864	T	0.69774	-0.5054	9	0.25106	T	0.35	.	8.5866	0.33662	0.1708:0.0:0.0:0.8292	.	281;281;281	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	V	281	ENSP00000424243:E281V;ENSP00000359655:E281V;ENSP00000359650:E281V;ENSP00000377042:E281V;ENSP00000341818:E281V;ENSP00000359652:E281V	ENSP00000341818:E281V	E	-	2	0	EYS	66257228	1.000000	0.71417	0.002000	0.10522	0.418000	0.31294	3.755000	0.55197	0.666000	0.31087	0.533000	0.62120	GAA		0.294	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		14	28	0	0	0	1	0	14	28				
QARS	5859	broad.mit.edu	37	3	49142161	49142161	+	Silent	SNP	C	C	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:49142161C>G	ENST00000306125.6	-	1	343	c.6G>C	c.(4-6)gcG>gcC	p.A2A	QARS_ENST00000420147.2_Silent_p.A20A|QARS_ENST00000470225.1_5'Flank|QARS_ENST00000414533.1_Silent_p.A2A			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	2					brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	AGTCTAGAGCCGCCATTGCAG	0.612																																						ENST00000306125.6																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19						c.(4-6)gcG>gcC		glutaminyl-tRNA synthetase	L-Glutamine(DB00130)						40.0	46.0	44.0					3																	49142161		2203	4300	6503	SO:0001819	synonymous_variant	5859				glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding	g.chr3:49142161C>G	X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"""Aminoacyl tRNA synthetases / Class I"""	9751	protein-coding gene	gene with protein product	"""glutamine tRNA ligase"""	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.6G>C	3.37:g.49142161C>G						QARS_ENST00000414533.1_Silent_p.A2A|QARS_ENST00000420147.2_Silent_p.A20A	p.A2A			P47897	SYQ_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	1	343	-			2					B4DWJ2	Silent	SNP	ENST00000306125.6	37	c.6G>C	CCDS2788.1																																																																																				0.612	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345689.2	NM_005051		5	20	0	0	0	1	0	5	20				
COL11A1	1301	broad.mit.edu	37	1	103354182	103354182	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:103354182G>T	ENST00000370096.3	-	62	4871	c.4559C>A	c.(4558-4560)cCc>cAc	p.P1520H	COL11A1_ENST00000353414.4_Missense_Mutation_p.P1481H|COL11A1_ENST00000512756.1_Missense_Mutation_p.P1404H|COL11A1_ENST00000358392.2_Missense_Mutation_p.P1532H	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1520	Collagen-like 8.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTGGCCAGCGGGTCCCTGTTA	0.413																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(4594-4596)cCc>cAc		collagen, type XI, alpha 1							67.0	70.0	69.0					1																	103354182		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103354182G>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.4559C>A	1.37:g.103354182G>T	ENSP00000359114:p.Pro1520His					COL11A1_ENST00000353414.4_Missense_Mutation_p.P1481H|COL11A1_ENST00000512756.1_Missense_Mutation_p.P1404H|COL11A1_ENST00000370096.3_Missense_Mutation_p.P1520H	p.P1532H	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	62	4912	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1520			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.4595C>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.725618	0.68959	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35	5.67	5.67	0.87782	.	0.110374	0.64402	D	0.000005	D	0.93536	0.7937	M	0.74647	2.275	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;0.999;1.0;0.997	D	0.91584	0.5281	10	0.36615	T	0.2	.	19.7775	0.96400	0.0:0.0:1.0:0.0	.	1404;1481;1532;1520;740	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	H	1520;1532;1481;740;1404	ENSP00000359114:P1520H;ENSP00000351163:P1532H;ENSP00000302551:P1481H;ENSP00000426533:P1404H	ENSP00000302551:P1481H	P	-	2	0	COL11A1	103126770	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	7.509000	0.81698	2.680000	0.91292	0.655000	0.94253	CCC		0.413	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		9	48	1	0	1.49906e-05	1	1.63699e-05	9	48				
STX4	6810	broad.mit.edu	37	16	31045834	31045834	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr16:31045834G>T	ENST00000313843.3	+	4	599	c.284G>T	c.(283-285)aGg>aTg	p.R95M	STX4_ENST00000493902.1_3'UTR|STX4_ENST00000394998.1_Missense_Mutation_p.R93M	NM_004604.3	NP_004595.2	Q12846	STX4_HUMAN	syntaxin 4	95					blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|neurotransmitter transport (GO:0006836)|platelet activation (GO:0030168)|post-Golgi vesicle-mediated transport (GO:0006892)|SNARE complex assembly (GO:0035493)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|membrane (GO:0016020)|myelin sheath adaxonal region (GO:0035749)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)				NS(2)|breast(1)|large_intestine(3)|lung(3)	9						CAGCTGGGGAGGGAGATCCGC	0.572																																						ENST00000394998.1																			0				NS(2)|breast(1)|large_intestine(3)|lung(3)	9						c.(277-279)aGg>aTg		syntaxin 4							43.0	39.0	40.0					16																	31045834		2196	4300	6496	SO:0001583	missense	6810				intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity	g.chr16:31045834G>T	AF026007	CCDS10700.1, CCDS61916.1	16p11.2	2008-02-05	2006-04-25	2006-04-25	ENSG00000103496	ENSG00000103496			11439	protein-coding gene	gene with protein product		186591	"""syntaxin 4A (placental)"""	STX4A		8206394, 16339081	Standard	NM_001272095		Approved	p35-2	uc002eak.4	Q12846	OTTHUMG00000132404	ENST00000313843.3:c.284G>T	16.37:g.31045834G>T	ENSP00000317714:p.Arg95Met					STX4_ENST00000313843.3_Missense_Mutation_p.R95M|STX4_ENST00000493902.1_3'UTR	p.R93M	NM_001272096.1	NP_001259025.1	Q12846	STX4_HUMAN			5	621	+			95					A8MXY0|Q15525|Q6FHE8	Missense_Mutation	SNP	ENST00000313843.3	37	c.278G>T	CCDS10700.1	.	.	.	.	.	.	.	.	.	.	g	19.95	3.922233	0.73213	.	.	ENSG00000103496	ENST00000457779;ENST00000394998;ENST00000313843	T;T;T	0.18338	2.22;2.22;2.22	5.69	4.65	0.58169	t-SNARE (1);Syntaxin, N-terminal (2);	0.179845	0.64402	D	0.000011	T	0.15219	0.0367	N	0.14661	0.345	0.31679	N	0.6434	P;D	0.56287	0.921;0.975	P;P	0.55011	0.579;0.766	T	0.05468	-1.0883	10	0.87932	D	0	.	4.5386	0.12045	0.2859:0.0:0.7141:0.0	.	95;93	Q12846;A8MXY0	STX4_HUMAN;.	M	147;93;95	ENSP00000390788:R147M;ENSP00000378447:R93M;ENSP00000317714:R95M	ENSP00000317714:R95M	R	+	2	0	STX4	30953335	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.824000	0.55723	2.708000	0.92522	0.479000	0.44913	AGG		0.572	STX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255538.3	NM_004604		3	23	1	0	0.00024832	1	0.000261664	3	23				
IL1RAPL1	11141	broad.mit.edu	37	X	28807464	28807464	+	Nonsense_Mutation	SNP	A	A	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chrX:28807464A>T	ENST00000378993.1	+	2	677	c.4A>T	c.(4-6)Aaa>Taa	p.K2*	IL1RAPL1_ENST00000302196.4_Nonsense_Mutation_p.K2*	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	2					calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						CTGGAAGATGAAAGCTCCGAT	0.348																																						ENST00000378993.1																			0				biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(4-6)Aaa>Taa		interleukin 1 receptor accessory protein-like 1							84.0	75.0	78.0					X																	28807464		2202	4300	6502	SO:0001587	stop_gained	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:28807464A>T	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.4A>T	X.37:g.28807464A>T	ENSP00000368278:p.Lys2*					IL1RAPL1_ENST00000302196.4_Nonsense_Mutation_p.K2*	p.K2*	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN			2	677	+			2					A0AVG4|Q9UJ53	Nonsense_Mutation	SNP	ENST00000378993.1	37	c.4A>T	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	A	47	13.009106	0.99713	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	.	.	.	5.78	5.78	0.91487	.	0.280007	0.31936	N	0.006827	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.1942	0.65659	1.0:0.0:0.0:0.0	.	.	.	.	X	2	.	ENSP00000305200:K2X	K	+	1	0	IL1RAPL1	28717385	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.638000	0.74309	1.950000	0.56595	0.481000	0.45027	AAA		0.348	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		23	18	0	0	0	1	0	23	18				
SV2B	9899	broad.mit.edu	37	15	91811780	91811780	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr15:91811780A>G	ENST00000394232.1	+	9	1788	c.1318A>G	c.(1318-1320)Atc>Gtc	p.I440V	SV2B_ENST00000545111.2_Missense_Mutation_p.I289V|SV2B_ENST00000330276.4_Missense_Mutation_p.I440V	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	440					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			CGGCGCCACAATCAACTTCAC	0.428																																						ENST00000394232.1																			0				NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1318-1320)Atc>Gtc		synaptic vesicle glycoprotein 2B							138.0	135.0	136.0					15																	91811780		2198	4298	6496	SO:0001583	missense	9899				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr15:91811780A>G	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.1318A>G	15.37:g.91811780A>G	ENSP00000377779:p.Ile440Val					SV2B_ENST00000330276.4_Missense_Mutation_p.I440V|SV2B_ENST00000545111.2_Missense_Mutation_p.I289V	p.I440V	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0895)		9	1788	+	Lung NSC(78;0.0987)|all_lung(78;0.172)		440					B4DH30|C6G489|O94840|Q6IAR8	Missense_Mutation	SNP	ENST00000394232.1	37	c.1318A>G	CCDS10370.1	.	.	.	.	.	.	.	.	.	.	A	12.79	2.044497	0.36085	.	.	ENSG00000185518	ENST00000545111;ENST00000394232;ENST00000330276	T;T;T	0.60424	0.21;0.19;0.19	5.49	4.24	0.50183	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.043947	0.85682	D	0.000000	T	0.40743	0.1129	L	0.34521	1.04	0.31565	N	0.656992	B	0.12013	0.005	B	0.11329	0.006	T	0.36163	-0.9759	10	0.15952	T	0.53	-35.1417	8.1041	0.30874	0.67:0.0:0.0:0.33	.	440	Q7L1I2	SV2B_HUMAN	V	289;440;440	ENSP00000443243:I289V;ENSP00000377779:I440V;ENSP00000332818:I440V	ENSP00000332818:I440V	I	+	1	0	SV2B	89612784	1.000000	0.71417	0.993000	0.49108	0.893000	0.52053	4.313000	0.59160	2.212000	0.71576	0.533000	0.62120	ATC		0.428	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848		9	125	0	0	0	1	0	9	125				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR	p.S168S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	55	0	0	0	1	0	4	55				
FAP	2191	broad.mit.edu	37	2	163027570	163027570	+	Silent	SNP	G	G	A	rs138589105		TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:163027570G>A	ENST00000188790.4	-	26	2409	c.2202C>T	c.(2200-2202)caC>caT	p.H734H	AC007750.5_ENST00000609668.1_RNA|AC007750.5_ENST00000418968.3_RNA|FAP_ENST00000443424.1_Silent_p.H709H	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						CGGATAAGCCGTGGTTCTGGT	0.438													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17249	0.0		0.0	False		,,,				2504	0.0					ENST00000188790.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						c.(2200-2202)caC>caT		fibroblast activation protein, alpha		G		0,4406		0,0,2203	131.0	129.0	130.0		2202	-8.4	0.2	2	dbSNP_134	130	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	FAP	NM_004460.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		734/761	163027570	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2191				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	g.chr2:163027570G>A	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.2202C>T	2.37:g.163027570G>A						FAP_ENST00000443424.1_Silent_p.H709H|AC007750.5_ENST00000418968.2_RNA	p.H734H	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN			26	2409	-			734						Silent	SNP	ENST00000188790.4	37	c.2202C>T	CCDS33311.1																																																																																				0.438	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2			19	56	0	0	0	1	0	19	56				
CDH12	1010	broad.mit.edu	37	5	21752113	21752113	+	Silent	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr5:21752113G>T	ENST00000382254.1	-	15	3204	c.2118C>A	c.(2116-2118)ccC>ccA	p.P706P	CDH12_ENST00000504376.2_Silent_p.P706P|CDH12_ENST00000522262.1_Silent_p.P666P|CDH12_ENST00000521384.1_5'UTR|RP11-804N13.1_ENST00000522350.1_RNA	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	706					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TATCTTCCATGGGTGGTCTCT	0.453										HNSCC(59;0.17)																												ENST00000382254.1																			0				NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(2116-2118)ccC>ccA		cadherin 12, type 2 (N-cadherin 2)							240.0	208.0	219.0					5																	21752113		2203	4300	6503	SO:0001819	synonymous_variant	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21752113G>T	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.2118C>A	5.37:g.21752113G>T		HNSCC(59;0.17)				CDH12_ENST00000522262.1_Silent_p.P666P|CDH12_ENST00000504376.2_Silent_p.P706P|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000521384.1_5'UTR	p.P706P	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN			15	3204	-			706					B2RBT1|B7Z2U6|Q86UD2	Silent	SNP	ENST00000382254.1	37	c.2118C>A	CCDS3890.1																																																																																				0.453	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		20	80	1	0	4.72057e-08	1	5.50124e-08	20	80				
CNTN3	5067	broad.mit.edu	37	3	74344279	74344279	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:74344279C>A	ENST00000263665.6	-	18	2537	c.2510G>T	c.(2509-2511)gGc>gTc	p.G837V		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	837	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TACCTCATAGCCCAGTAAATG	0.398																																						ENST00000263665.6																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83						c.(2509-2511)gGc>gTc		contactin 3 (plasmacytoma associated)							110.0	99.0	103.0					3																	74344279		2203	4300	6503	SO:0001583	missense	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74344279C>A	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.2510G>T	3.37:g.74344279C>A	ENSP00000263665:p.Gly837Val						p.G837V	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	18	2537	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	837			Fibronectin type-III 3.		B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	c.2510G>T	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.675013	0.88445	.	.	ENSG00000113805	ENST00000263665	T	0.61158	0.13	5.75	5.75	0.90469	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.82765	0.5108	M	0.92459	3.31	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.86264	0.1657	10	0.87932	D	0	.	19.9564	0.97221	0.0:1.0:0.0:0.0	.	837	Q9P232	CNTN3_HUMAN	V	837	ENSP00000263665:G837V	ENSP00000263665:G837V	G	-	2	0	CNTN3	74426969	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.117000	0.77129	2.708000	0.92522	0.650000	0.86243	GGC		0.398	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		9	45	1	0	0.00448238	1	0.00462598	9	45				
FSIP2	401024	broad.mit.edu	37	2	186672707	186672707	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:186672707C>A	ENST00000424728.1	+	17	18674	c.18674C>A	c.(18673-18675)tCc>tAc	p.S6225Y	FSIP2_ENST00000343098.5_Missense_Mutation_p.S6314Y			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6225										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GAATTTATCTCCAAAAGTAAG	0.308																																						ENST00000343098.5																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						c.(18940-18942)tCc>tAc		fibrous sheath interacting protein 2							29.0	26.0	27.0					2																	186672707		1815	4053	5868	SO:0001583	missense	401024							g.chr2:186672707C>A	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.18674C>A	2.37:g.186672707C>A	ENSP00000401306:p.Ser6225Tyr					FSIP2_ENST00000424728.1_Missense_Mutation_p.S6225Y	p.S6314Y	NM_173651.2	NP_775922.2					17	18941	+								Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	37	c.18941C>A		.	.	.	.	.	.	.	.	.	.	C	14.31	2.497364	0.44455	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.59224	0.28;0.28	5.07	3.24	0.37175	.	0.255981	0.28161	N	0.016368	T	0.55529	0.1926	L	0.52011	1.625	0.30617	N	0.758889	.	.	.	.	.	.	T	0.59820	-0.7382	8	0.72032	D	0.01	.	6.9525	0.24552	0.0:0.7324:0.1741:0.0935	.	.	.	.	Y	6314;6225	ENSP00000344403:S6314Y;ENSP00000401306:S6225Y	ENSP00000344403:S6314Y	S	+	2	0	FSIP2	186380952	0.893000	0.30496	0.961000	0.40146	0.934000	0.57294	2.364000	0.44187	0.700000	0.31782	-0.439000	0.05793	TCC		0.308	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		12	29	1	0	0.000978159	1	0.00101647	12	29				
TJP1	7082	broad.mit.edu	37	15	30012801	30012801	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr15:30012801C>T	ENST00000346128.6	-	19	2998	c.2524G>A	c.(2524-2526)Gac>Aac	p.D842N	TJP1_ENST00000400011.2_Missense_Mutation_p.D846N|TJP1_ENST00000545208.2_Missense_Mutation_p.D842N|TJP1_ENST00000356107.6_Missense_Mutation_p.D842N	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	842					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.D842fs*18(1)		breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TCTTCATAGTCAGAAGTGTGT	0.463																																					Melanoma(77;681 1843 6309 6570)	ENST00000346128.6																			1	Insertion - Frameshift(1)	p.D842fs*18(1)	breast(1)	breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68						c.(2524-2526)Gac>Aac		tight junction protein 1							91.0	89.0	90.0					15																	30012801		1958	4164	6122	SO:0001583	missense	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30012801C>T		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.2524G>A	15.37:g.30012801C>T	ENSP00000281537:p.Asp842Asn					TJP1_ENST00000356107.6_Missense_Mutation_p.D842N|TJP1_ENST00000400011.2_Missense_Mutation_p.D846N|TJP1_ENST00000545208.2_Missense_Mutation_p.D842N	p.D842N	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	19	2998	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	842					B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	c.2524G>A	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.015874	0.93404	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T;T;T	0.11495	2.78;2.92;2.85;2.77	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.40619	0.1124	M	0.83774	2.66	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.998	T	0.05321	-1.0892	9	.	.	.	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	835;842;842;846	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	N	842;846;842;842;842	ENSP00000281537:D842N;ENSP00000382890:D846N;ENSP00000441202:D842N;ENSP00000348416:D842N	.	D	-	1	0	TJP1	27800093	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.814000	0.86154	2.937000	0.99478	0.650000	0.86243	GAC		0.463	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		40	40	0	0	0	1	0	40	40				
OR6C65	403282	broad.mit.edu	37	12	55794728	55794728	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr12:55794728G>A	ENST00000379665.2	+	1	515	c.416G>A	c.(415-417)tGt>tAt	p.C139Y		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						AACAAAGTCTGTAATTGGCTT	0.418																																						ENST00000379665.2																			0				cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						c.(415-417)tGt>tAt		olfactory receptor, family 6, subfamily C, member 65							123.0	128.0	126.0					12																	55794728		2203	4300	6503	SO:0001583	missense	403282				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55794728G>A		CCDS31821.1	12q13.2	2013-09-23			ENSG00000205328	ENSG00000205328		"""GPCR / Class A : Olfactory receptors"""	31295	protein-coding gene	gene with protein product							Standard	NM_001005518		Approved		uc010spl.2	A6NJZ3	OTTHUMG00000169955	ENST00000379665.2:c.416G>A	12.37:g.55794728G>A	ENSP00000368986:p.Cys139Tyr						p.C139Y	NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN			1	515	+			139					B2RNH9	Missense_Mutation	SNP	ENST00000379665.2	37	c.416G>A	CCDS31821.1	.	.	.	.	.	.	.	.	.	.	G	10.39	1.338043	0.24253	.	.	ENSG00000205328	ENST00000379665	T	0.00237	8.47	3.56	3.56	0.40772	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43579	U	0.000551	T	0.00637	0.0021	M	0.87827	2.91	0.09310	N	1	D	0.69078	0.997	D	0.71870	0.975	T	0.32903	-0.9889	10	0.87932	D	0	.	15.3146	0.74065	0.0:0.0:1.0:0.0	.	139	A6NJZ3	O6C65_HUMAN	Y	139	ENSP00000368986:C139Y	ENSP00000368986:C139Y	C	+	2	0	OR6C65	54080995	0.449000	0.25689	0.899000	0.35326	0.222000	0.24845	1.553000	0.36255	1.994000	0.58287	0.424000	0.28305	TGT		0.418	OR6C65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406674.1			64	102	0	0	0	1	0	64	102				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977347	29977347	+	RNA	SNP	A	A	T	rs57303436	byFrequency	TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:29977347A>T	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		CTGAGAGGCAAGATTTGTTCA	0.438													A|||	420	0.0838658	0.2337	0.0735	5008	,	,		21779	0.002		0.0427	False		,,,				2504	0.0153					ENST00000376797.3																			0																																																			80862							g.chr6:29977347A>T	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977347A>T						ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA								0	731	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.438	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		4	47	0	0	0	1	0	4	47				
FAM184A	79632	broad.mit.edu	37	6	119337960	119337960	+	Silent	SNP	A	A	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:119337960A>T	ENST00000338891.7	-	5	1925	c.1482T>A	c.(1480-1482)atT>atA	p.I494I	FAM184A_ENST00000521531.1_Silent_p.I494I|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000368475.4_Silent_p.I374I|FAM184A_ENST00000352896.5_Silent_p.I374I|FAM184A_ENST00000522284.1_Silent_p.I374I	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	494						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GGACAGCTTCAATTGCCATAT	0.343																																						ENST00000338891.7																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						c.(1480-1482)atT>atA		family with sequence similarity 184, member A							131.0	122.0	125.0					6																	119337960		1825	4094	5919	SO:0001819	synonymous_variant	79632							g.chr6:119337960A>T	BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.1482T>A	6.37:g.119337960A>T						FAM184A_ENST00000368475.4_Silent_p.I374I|FAM184A_ENST00000352896.5_Silent_p.I374I|FAM184A_ENST00000521531.1_Silent_p.I494I|FAM184A_ENST00000522284.1_Silent_p.I374I|RP11-351A11.1_ENST00000518570.1_RNA	p.I494I	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN			5	1925	-			494					B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Silent	SNP	ENST00000338891.7	37	c.1482T>A	CCDS43499.1	.	.	.	.	.	.	.	.	.	.	A	10.19	1.281496	0.23392	.	.	ENSG00000111879	ENST00000448815	.	.	.	5.18	1.11	0.20524	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.5041	6.1527	0.20320	0.6614:0.125:0.2136:0.0	.	.	.	.	X	80	.	.	L	-	2	0	FAM184A	119379659	0.998000	0.40836	1.000000	0.80357	0.979000	0.70002	0.640000	0.24705	0.286000	0.22352	-0.415000	0.06103	TTG		0.343	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581		10	58	0	0	0	1	0	10	58				
UTP23	84294	broad.mit.edu	37	8	117782554	117782554	+	Silent	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr8:117782554G>T	ENST00000309822.2	+	2	413	c.312G>T	c.(310-312)ctG>ctT	p.L104L	UTP23_ENST00000520733.1_5'UTR|UTP23_ENST00000517820.1_Intron|UTP23_ENST00000357148.3_Silent_p.L104L	NM_032334.2	NP_115710.2	Q9BRU9	UTP23_HUMAN	UTP23, small subunit (SSU) processome component, homolog (yeast)	104					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	12						CAGAATGTCTGCTTTCCATGG	0.378																																						ENST00000309822.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	12						c.(310-312)ctG>ctT		UTP23, small subunit (SSU) processome component, homolog (yeast)							127.0	117.0	120.0					8																	117782554		2203	4300	6503	SO:0001819	synonymous_variant	84294				rRNA processing	nucleolus		g.chr8:117782554G>T		CCDS6320.1	8q24.11	2008-06-12	2008-06-12	2008-06-12		ENSG00000147679			28224	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 53"""	C8orf53		16769905	Standard	NM_032334		Approved	MGC14595	uc003yoc.3	Q9BRU9		ENST00000309822.2:c.312G>T	8.37:g.117782554G>T						UTP23_ENST00000520733.1_5'UTR|UTP23_ENST00000517820.1_Intron|UTP23_ENST00000357148.3_Silent_p.L104L	p.L104L	NM_032334.2	NP_115710.2	Q9BRU9	UTP23_HUMAN			2	413	+			104					B2RE25|Q96NJ8	Silent	SNP	ENST00000309822.2	37	c.312G>T	CCDS6320.1																																																																																				0.378	UTP23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381173.1	NM_032334		55	61	1	0	9.59835e-30	1	1.38302e-29	55	61				
KIRREL2	84063	broad.mit.edu	37	19	36351814	36351814	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:36351814G>C	ENST00000360202.5	+	8	1130	c.932G>C	c.(931-933)gGg>gCg	p.G311A	KIRREL2_ENST00000262625.7_Missense_Mutation_p.G311A|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Missense_Mutation_p.G311A|KIRREL2_ENST00000347900.6_Missense_Mutation_p.G261A	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	311					cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CGTCCAGTTGGGCCGATTCTG	0.652																																						ENST00000360202.5																			0				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48						c.(931-933)gGg>gCg		kin of IRRE like 2 (Drosophila)							22.0	24.0	23.0					19																	36351814		2193	4296	6489	SO:0001583	missense	84063				cell adhesion	integral to membrane|plasma membrane		g.chr19:36351814G>C	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.932G>C	19.37:g.36351814G>C	ENSP00000353331:p.Gly311Ala					KIRREL2_ENST00000592409.1_Missense_Mutation_p.G311A|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000347900.6_Missense_Mutation_p.G261A|KIRREL2_ENST00000262625.7_Missense_Mutation_p.G311A|KIRREL2_ENST00000586102.2_Missense_Mutation_p.G291A	p.G311A	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		8	1130	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		311					C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Missense_Mutation	SNP	ENST00000360202.5	37	c.932G>C	CCDS12481.1	.	.	.	.	.	.	.	.	.	.	g	21.7	4.188185	0.78789	.	.	ENSG00000126259	ENST00000262625;ENST00000347900;ENST00000360202;ENST00000341658	T;T;T	0.20738	2.05;2.05;2.05	4.48	4.48	0.54585	.	0.000000	0.47093	D	0.000252	T	0.17195	0.0413	N	0.02192	-0.645	0.53688	D	0.999978	D;D;P;D;D	0.59767	0.984;0.981;0.928;0.986;0.974	P;P;P;P;P	0.62885	0.908;0.851;0.805;0.706;0.706	T	0.28004	-1.0057	10	0.20519	T	0.43	-19.73	12.5508	0.56225	0.0:0.0:1.0:0.0	.	311;291;311;261;311	F1T0I2;Q6UWL6-4;Q6UWL6;Q6UWL6-3;Q6UWL6-2	.;.;KIRR2_HUMAN;.;.	A	311;261;311;291	ENSP00000262625:G311A;ENSP00000345067:G261A;ENSP00000353331:G311A	ENSP00000262625:G311A	G	+	2	0	KIRREL2	41043654	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	4.428000	0.59894	2.332000	0.79248	0.450000	0.29827	GGG		0.652	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		11	20	0	0	0	1	0	11	20				
RP11-156P1.3	0	broad.mit.edu	37	17	45128742	45128742	+	RNA	SNP	T	T	G	rs34655963	byFrequency	TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr17:45128742T>G	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							TAATGATTTTTATTATACTTT	0.328													g|||	2160	0.43131	0.3593	0.4986	5008	,	,		16551	0.3482		0.4861	False		,,,				2504	0.5102					ENST00000575173.1																			0																																																			0							g.chr17:45128742T>G																													17.37:g.45128742T>G														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.328	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			3	32	0	0	0	1	0	3	32				
LTF	4057	broad.mit.edu	37	3	46479621	46479621	+	Splice_Site	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:46479621C>A	ENST00000231751.4	-	16	2204		c.e16-1		LTF_ENST00000426532.2_Splice_Site|LTF_ENST00000417439.1_Splice_Site|LTF_ENST00000493056.1_Splice_Site	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin						antibacterial humoral response (GO:0019731)|antifungal humoral response (GO:0019732)|bone morphogenesis (GO:0060349)|humoral immune response (GO:0006959)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|iron assimilation by chelation and transport (GO:0033214)|iron ion transport (GO:0006826)|negative regulation of apoptotic process (GO:0043066)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of osteoclast development (GO:2001205)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|negative regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000308)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|regulation of cytokine production (GO:0001817)|regulation of tumor necrosis factor production (GO:0032680)|response to host immune response (GO:0052572)|retina homeostasis (GO:0001895)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|phagocytic vesicle lumen (GO:0097013)|secretory granule (GO:0030141)|specific granule (GO:0042581)	DNA binding (GO:0003677)|ferric iron binding (GO:0008199)|heparin binding (GO:0008201)|iron ion binding (GO:0005506)|protein serine/threonine kinase activator activity (GO:0043539)|serine-type endopeptidase activity (GO:0004252)	p.?(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)		CAAATTTAGCCTGCGACAAAA	0.448																																						ENST00000231751.4																			1	Unknown(1)	p.?(1)	central_nervous_system(1)	NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40						c.e16-1		lactotransferrin	Pefloxacin(DB00487)						101.0	103.0	102.0					3																	46479621		2203	4300	6503	SO:0001630	splice_region_variant	4057				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity	g.chr3:46479621C>A		CCDS33747.1, CCDS56251.1	3p21.31	2012-10-02			ENSG00000012223	ENSG00000012223			6720	protein-coding gene	gene with protein product		150210				17476971, 3356163	Standard	NM_001199149		Approved	HLF2	uc003cpq.3	P02788	OTTHUMG00000156325	ENST00000231751.4:c.1909-1G>T	3.37:g.46479621C>A						LTF_ENST00000426532.2_Splice_Site|LTF_ENST00000417439.1_Splice_Site|LTF_ENST00000493056.1_Splice_Site		NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN		all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	16	2204	-								A8K9U8|B2MV13|B7Z4X2|E7EQH5|O00756|Q16780|Q16785|Q16786|Q16789|Q5DSM0|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5	Splice_Site	SNP	ENST00000231751.4	37		CCDS33747.1	.	.	.	.	.	.	.	.	.	.	C	14.11	2.436400	0.43224	.	.	ENSG00000012223	ENST00000231751;ENST00000426532;ENST00000417439;ENST00000443496	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2207	0.65826	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LTF	46454625	1.000000	0.71417	0.460000	0.27093	0.027000	0.11550	6.158000	0.71851	2.645000	0.89757	0.650000	0.86243	.		0.448	LTF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343951.2	NM_002343	Intron	19	87	1	0	1.33834e-09	1	1.64019e-09	19	87				
PTGS1	5742	broad.mit.edu	37	9	125145892	125145892	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr9:125145892G>T	ENST00000362012.2	+	8	872	c.867G>T	c.(865-867)gaG>gaT	p.E289D	PTGS1_ENST00000223423.4_Missense_Mutation_p.E289D|PTGS1_ENST00000540753.1_Missense_Mutation_p.E264D|PTGS1_ENST00000373698.5_Missense_Mutation_p.E180D	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	289					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	TGGGCCAGGAGGTGTTTGGGC	0.622																																						ENST00000362012.2																			0				large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(865-867)gaG>gaT		prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)						89.0	74.0	79.0					9																	125145892		2203	4300	6503	SO:0001583	missense	5742				cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr9:125145892G>T	M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.867G>T	9.37:g.125145892G>T	ENSP00000354612:p.Glu289Asp					PTGS1_ENST00000373698.5_Missense_Mutation_p.E180D|PTGS1_ENST00000223423.4_Missense_Mutation_p.E289D|PTGS1_ENST00000540753.1_Missense_Mutation_p.E264D	p.E289D	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN			8	872	+			289					A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Missense_Mutation	SNP	ENST00000362012.2	37	c.867G>T	CCDS6842.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.939234	0.52972	.	.	ENSG00000095303	ENST00000540753;ENST00000362012;ENST00000223423;ENST00000373698	T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37	5.31	3.49	0.39957	.	0.045054	0.85682	D	0.000000	T	0.69242	0.3089	M	0.72894	2.215	0.58432	D	0.999991	B;B;B	0.23891	0.009;0.093;0.01	B;B;B	0.36989	0.107;0.238;0.073	T	0.67413	-0.5677	10	0.59425	D	0.04	-30.6725	10.9474	0.47308	0.151:0.0:0.849:0.0	.	264;289;289	B4DHQ2;P23219;P23219-2	.;PGH1_HUMAN;.	D	264;289;289;180	ENSP00000437709:E264D;ENSP00000354612:E289D;ENSP00000223423:E289D;ENSP00000362802:E180D	ENSP00000223423:E289D	E	+	3	2	PTGS1	124185713	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	2.433000	0.44793	0.628000	0.30357	-0.224000	0.12420	GAG		0.622	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053933.1			17	16	1	0	4.7546e-09	1	5.7182e-09	17	16				
CCNB1IP1	57820	broad.mit.edu	37	14	20781866	20781866	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr14:20781866C>G	ENST00000398169.3	-	6	1008	c.392G>C	c.(391-393)aGc>aCc	p.S131T	CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.S131T|CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.S131T|CCNB1IP1_ENST00000398160.2_Missense_Mutation_p.S131T|CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.S131T|CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.S131T			Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1, E3 ubiquitin protein ligase	131					blastocyst formation (GO:0001825)|chiasma assembly (GO:0051026)|protein ubiquitination (GO:0016567)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)	synaptonemal complex (GO:0000795)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		TACATCCTTGCTTTGTATTTG	0.393			T	HMGA2	leiomyoma																																	ENST00000398169.3				Dom	yes		14	14q11.2	57820	T	"""cyclin B1 interacting protein 1, E3 ubiquitin protein ligase"""			M	HMGA2		leiomyoma	HMGA2/CCNB1IP1(2)	0				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9						c.(391-393)aGc>aCc		cyclin B1 interacting protein 1, E3 ubiquitin protein ligase							82.0	72.0	75.0					14																	20781866		2203	4300	6503	SO:0001583	missense	57820					chromosome|nucleus	ligase activity|metal ion binding|protein binding	g.chr14:20781866C>G	AF216381	CCDS9547.1	14q11.2	2014-02-04	2011-01-31	2004-01-14	ENSG00000100814	ENSG00000100814			19437	protein-coding gene	gene with protein product	"""human enhancer of invasion 10"""	608249	"""chromosome 14 open reading frame 18"", ""cyclin B1 interacting protein 1"""	C14orf18		12612082, 21779533	Standard	NM_021178		Approved	HEI10	uc001vwy.4	Q9NPC3	OTTHUMG00000029509	ENST00000398169.3:c.392G>C	14.37:g.20781866C>G	ENSP00000381235:p.Ser131Thr					CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.S131T|CCNB1IP1_ENST00000398160.2_Missense_Mutation_p.S131T|CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.S131T|CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.S131T|CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.S131T	p.S131T			Q9NPC3	CIP1_HUMAN	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)	6	1008	-	all_cancers(95;0.00092)	all_lung(585;0.235)	131						Missense_Mutation	SNP	ENST00000398169.3	37	c.392G>C	CCDS9547.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.827485	0.50845	.	.	ENSG00000100814	ENST00000398160;ENST00000398169;ENST00000358932;ENST00000353689;ENST00000437553;ENST00000398163;ENST00000557665	.	.	.	5.23	5.23	0.72850	.	0.042951	0.85682	D	0.000000	T	0.44414	0.1292	N	0.19112	0.55	0.41313	D	0.987123	B	0.21606	0.058	B	0.19666	0.026	T	0.30563	-0.9974	9	0.23891	T	0.37	-14.344	17.5687	0.87928	0.0:1.0:0.0:0.0	.	131	Q9NPC3	CIP1_HUMAN	T	131	.	ENSP00000337396:S131T	S	-	2	0	CCNB1IP1	19851706	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.086000	0.57664	2.442000	0.82660	0.561000	0.74099	AGC		0.393	CCNB1IP1-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073538.3	NM_021178, NM_182849, NM_182851, NM_182852		8	82	0	0	0	1	0	8	82				
ART3	419	broad.mit.edu	37	4	77003168	77003168	+	Silent	SNP	T	T	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:77003168T>C	ENST00000355810.4	+	3	380	c.261T>C	c.(259-261)ccT>ccC	p.P87P	ART3_ENST00000513494.1_3'UTR|ART3_ENST00000341029.5_Silent_p.P87P|ART3_ENST00000349321.3_Silent_p.P87P	NM_001130016.2	NP_001123488.1	Q13508	NAR3_HUMAN	ADP-ribosyltransferase 3	87					protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCTTTCTCCCTATGAATTTTA	0.423																																						ENST00000355810.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16						c.(259-261)ccT>ccC		ADP-ribosyltransferase 3							72.0	73.0	73.0					4																	77003168		2203	4300	6503	SO:0001819	synonymous_variant	419				protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity	g.chr4:77003168T>C	X95827	CCDS3575.1, CCDS47079.1, CCDS47080.1	4q21.1	2008-05-15			ENSG00000156219	ENSG00000156219			725	protein-coding gene	gene with protein product		603086				9119374	Standard	NM_001130017		Approved		uc003hjo.3	Q13508	OTTHUMG00000130110	ENST00000355810.4:c.261T>C	4.37:g.77003168T>C						ART3_ENST00000349321.3_Silent_p.P87P|ART3_ENST00000341029.5_Silent_p.P87P|ART3_ENST00000513494.1_3'UTR	p.P87P	NM_001130016.2	NP_001123488.1	Q13508	NAR3_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		3	380	+			87					Q53XW3|Q6FHT7|Q8WVJ7|Q93069|Q96HL1	Silent	SNP	ENST00000355810.4	37	c.261T>C	CCDS47079.1																																																																																				0.423	ART3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252416.2	NM_001179		23	57	0	0	0	1	0	23	57				
SIRPA	140885	broad.mit.edu	37	20	1918052	1918052	+	Silent	SNP	G	G	T	rs149536101	byFrequency	TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr20:1918052G>T	ENST00000358771.4	+	8	1505	c.1353G>T	c.(1351-1353)acG>acT	p.T451T	SIRPA_ENST00000400068.3_Silent_p.T455T|SIRPA_ENST00000356025.3_Silent_p.T451T	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	451					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		ACAACCACACGGAGTATGCCA	0.582																																					GBM(155;1668 1920 5945 42733 48121)	ENST00000358771.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						c.(1351-1353)acG>acT		signal-regulatory protein alpha							99.0	97.0	98.0					20																	1918052		2203	4300	6503	SO:0001819	synonymous_variant	140885				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	g.chr20:1918052G>T	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	9662	protein-coding gene	gene with protein product		602461	"""protein tyrosine phosphatase, non-receptor type substrate 1"""	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.1353G>T	20.37:g.1918052G>T						SIRPA_ENST00000400068.3_Silent_p.T455T|SIRPA_ENST00000356025.3_Silent_p.T451T	p.T451T	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN		Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)	8	1505	+			451					A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Silent	SNP	ENST00000358771.4	37	c.1353G>T	CCDS13022.1																																																																																				0.582	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		6	65	1	0	0.217242	1	0.217725	6	65				
OR12D2	26529	broad.mit.edu	37	6	29364491	29364491	+	Silent	SNP	C	C	G	rs541577041		TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:29364491C>G	ENST00000383555.2	+	1	76	c.15C>G	c.(13-15)acC>acG	p.T5T	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	5						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						TGAATACAACCTCAGTCACCG	0.428																																						ENST00000383555.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						c.(13-15)acC>acG		olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)							232.0	258.0	249.0					6																	29364491		1511	2709	4220	SO:0001819	synonymous_variant	26529				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29364491C>G		CCDS4659.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000168787	ENSG00000168787		"""GPCR / Class A : Olfactory receptors"""	8178	protein-coding gene	gene with protein product			"""olfactory receptor, family 12, subfamily D, member 2"""				Standard	NM_013936		Approved	hs6M1-20	uc003nmf.4	P58182	OTTHUMG00000031049	ENST00000383555.2:c.15C>G	6.37:g.29364491C>G						OR5V1_ENST00000377154.1_Intron	p.T5T	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN			1	76	+			5					B0S862|Q5SUN9|Q6IET9	Silent	SNP	ENST00000383555.2	37	c.15C>G	CCDS4659.1																																																																																				0.428	OR12D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076054.2			48	154	0	0	0	1	0	48	154				
TENM1	10178	broad.mit.edu	37	X	123630881	123630881	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chrX:123630881C>T	ENST00000371130.3	-	20	3743	c.3680G>A	c.(3679-3681)aGt>aAt	p.S1227N	TENM1_ENST00000461429.1_5'UTR|TENM1_ENST00000422452.2_Missense_Mutation_p.S1227N	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1227					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.S1229T(1)									TTCCAAAATACTAACGGAGTT	0.398																																						ENST00000422452.2																			1	Substitution - Missense(1)	p.S1229T(1)	kidney(1)								c.(3679-3681)aGt>aAt		teneurin transmembrane protein 1							51.0	53.0	52.0					X																	123630881		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123630881C>T	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.3680G>A	X.37:g.123630881C>T	ENSP00000360171:p.Ser1227Asn					TENM1_ENST00000461429.1_5'UTR|TENM1_ENST00000371130.3_Missense_Mutation_p.S1227N	p.S1227N	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					20	3743	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.3680G>A	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.236990	0.39498	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.90504	-2.65;-2.68	5.67	5.67	0.87782	Six-bladed beta-propeller, TolB-like (1);	0.207615	0.48767	N	0.000178	D	0.85923	0.5810	L	0.27975	0.815	0.47245	D	0.999367	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.80313	-0.1435	10	0.36615	T	0.2	.	18.7655	0.91871	0.0:1.0:0.0:0.0	.	1226;1227;1227	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	N	1227	ENSP00000360171:S1227N;ENSP00000403954:S1227N	ENSP00000360171:S1227N	S	-	2	0	ODZ1	123458562	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.977000	0.56874	2.376000	0.81061	0.600000	0.82982	AGT		0.398	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		18	30	0	0	0	1	0	18	30				
MBOAT7	79143	broad.mit.edu	37	19	54692190	54692190	+	Silent	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:54692190C>T	ENST00000245615.1	-	3	567	c.87G>A	c.(85-87)ctG>ctA	p.L29L	TSEN34_ENST00000396388.2_5'Flank|MBOAT7_ENST00000391754.1_Silent_p.L29L|MBOAT7_ENST00000338624.6_5'UTR|TSEN34_ENST00000396383.1_5'Flank|TSEN34_ENST00000429671.2_5'Flank|MBOAT7_ENST00000431666.2_5'UTR|TSEN34_ENST00000302937.4_5'Flank|MBOAT7_ENST00000474910.1_5'UTR	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	29					glycerophospholipid biosynthetic process (GO:0046474)|layer formation in cerebral cortex (GO:0021819)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|ventricular system development (GO:0021591)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipid acyltransferase activity (GO:0071617)			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCCATCTCTTCAGCCCAGGAC	0.642																																					NSCLC(97;826 2151 10470 22540)	ENST00000245615.1																			0				endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10						c.(85-87)ctG>ctA		membrane bound O-acyltransferase domain containing 7							26.0	30.0	29.0					19																	54692190		2203	4300	6503	SO:0001819	synonymous_variant	79143				phospholipid biosynthetic process	integral to membrane	acyltransferase activity	g.chr19:54692190C>T	AF211969	CCDS12883.1, CCDS54315.1, CCDS54316.1	19q13.4	2008-12-15	2008-01-17	2008-01-17	ENSG00000125505	ENSG00000125505			15505	protein-coding gene	gene with protein product	"""lysophosphatidylinositol acyltransferase"""	606048	"""leukocyte receptor cluster (LRC) member 4"""	LENG4		10941842, 8702217, 18094042	Standard	NM_024298		Approved	BB1, hMBOA-7, LPIAT	uc002qdr.3	Q96N66	OTTHUMG00000066516	ENST00000245615.1:c.87G>A	19.37:g.54692190C>T						MBOAT7_ENST00000338624.6_5'UTR|MBOAT7_ENST00000431666.2_5'UTR|MBOAT7_ENST00000474910.1_5'UTR|MBOAT7_ENST00000391754.1_Silent_p.L29L	p.L29L	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN			3	567	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		29					A9C4B6|B0V3I5|B4DQ87|Q05DF0|Q7L5N2|Q99908|Q9BPV2|Q9BRE9	Silent	SNP	ENST00000245615.1	37	c.87G>A	CCDS12883.1																																																																																				0.642	MBOAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142203.1	NM_024298		10	31	0	0	0	1	0	10	31				
DGKI	9162	broad.mit.edu	37	7	137308275	137308275	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:137308275T>C	ENST00000288490.5	-	7	830	c.830A>G	c.(829-831)cAc>cGc	p.H277R	DGKI_ENST00000453654.2_5'UTR|DGKI_ENST00000424189.2_Missense_Mutation_p.H277R|DGKI_ENST00000446122.1_Missense_Mutation_p.H277R	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	277					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CTCTTTACTGTGGAAGGAGAA	0.443																																						ENST00000424189.2																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(829-831)cAc>cGc		diacylglycerol kinase, iota							186.0	178.0	181.0					7																	137308275		2203	4300	6503	SO:0001583	missense	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137308275T>C	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.830A>G	7.37:g.137308275T>C	ENSP00000288490:p.His277Arg					DGKI_ENST00000453654.1_5'UTR|DGKI_ENST00000288490.5_Missense_Mutation_p.H277R|DGKI_ENST00000446122.1_Missense_Mutation_p.H277R	p.H277R			O75912	DGKI_HUMAN			7	1059	-			277					A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	c.830A>G	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.322345	0.81580	.	.	ENSG00000157680	ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	D;D	0.92545	-3.06;-3.06	5.76	5.76	0.90799	Protein kinase C-like, phorbol ester/diacylglycerol binding (2);	0.185901	0.64402	D	0.000020	D	0.93128	0.7812	L	0.48642	1.525	0.80722	D	1	D	0.54601	0.967	P	0.58391	0.838	D	0.91633	0.5320	10	0.26408	T	0.33	.	16.0677	0.80897	0.0:0.0:0.0:1.0	.	277	O75912	DGKI_HUMAN	R	225;277;277;277	ENSP00000288490:H277R;ENSP00000399131:H277R	ENSP00000288490:H277R	H	-	2	0	DGKI	136958815	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.201000	0.70794	0.533000	0.62120	CAC		0.443	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		41	110	0	0	0	1	0	41	110				
KIF20B	9585	broad.mit.edu	37	10	91528644	91528644	+	Splice_Site	SNP	A	A	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr10:91528644A>T	ENST00000371728.3	+	31	5306	c.5241A>T	c.(5239-5241)aaA>aaT	p.K1747N	KIF20B_ENST00000416354.1_Splice_Site_p.K1777N|KIF20B_ENST00000260753.4_Splice_Site_p.K1707N|KIF20B_ENST00000478929.1_3'UTR	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1747	Interaction with PIN1.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						TTCAATCAAAAGGTTTGCAGA	0.313																																						ENST00000416354.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						c.e31+1		kinesin family member 20B							63.0	67.0	66.0					10																	91528644		2202	4298	6500	SO:0001630	splice_region_variant	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91528644A>T	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.5242+1A>T	10.37:g.91528644A>T						KIF20B_ENST00000371728.3_Splice_Site_p.K1747_splice|KIF20B_ENST00000260753.4_Splice_Site_p.K1707_splice|KIF20B_ENST00000478929.1_3'UTR	p.K1777_splice			Q96Q89	KI20B_HUMAN			31	5403	+			1747			Interaction with PIN1.		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Splice_Site	SNP	ENST00000371728.3	37	c.5332_splice		.	.	.	.	.	.	.	.	.	.	A	21.2	4.107812	0.77096	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000371728	T;T;T	0.59906	0.23;0.23;0.23	5.61	4.48	0.54585	.	0.000000	0.56097	D	0.000035	T	0.71290	0.3322	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.991;0.999	T	0.74090	-0.3777	10	0.87932	D	0	-30.1565	10.107	0.42539	0.9202:0.0:0.0798:0.0	.	1747;1707	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	N	1707;1777;1747	ENSP00000260753:K1707N;ENSP00000411545:K1777N;ENSP00000360793:K1747N	ENSP00000260753:K1707N	K	+	3	2	KIF20B	91518624	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.855000	0.62925	2.120000	0.65058	0.454000	0.30748	AAA		0.313	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195	Missense_Mutation	11	41	0	0	0	1	0	11	41				
UAP1	6675	broad.mit.edu	37	1	162557316	162557316	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:162557316G>A	ENST00000367925.1	+	5	918	c.886G>A	c.(886-888)Gat>Aat	p.D296N	UAP1_ENST00000367926.4_Missense_Mutation_p.D296N|UAP1_ENST00000271469.3_Missense_Mutation_p.D296N|UAP1_ENST00000367924.1_Missense_Mutation_p.D296N			Q16222	UAP1_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1	296					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)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|UDP-N-acetylglucosamine diphosphorylase activity (GO:0003977)			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TTGCCGAGTGGATGGAGTTTA	0.463																																						ENST00000271469.3																			0				breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22						c.(886-888)Gat>Aat		UDP-N-acteylglucosamine pyrophosphorylase 1							118.0	122.0	121.0					1																	162557316		2203	4300	6503	SO:0001583	missense	6675				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity	g.chr1:162557316G>A	AB011004	CCDS1240.1	1q23.2	2014-07-31	2014-07-31		ENSG00000117143	ENSG00000117143	2.7.7.23		12457	protein-coding gene	gene with protein product		602862		SPAG2		9603950, 8025165	Standard	NM_003115		Approved	AGX1, AgX	uc001gce.4	Q16222	OTTHUMG00000034419	ENST00000367925.1:c.886G>A	1.37:g.162557316G>A	ENSP00000356902:p.Asp296Asn					UAP1_ENST00000367926.4_Missense_Mutation_p.D296N|UAP1_ENST00000367924.1_Missense_Mutation_p.D296N|UAP1_ENST00000367925.1_Missense_Mutation_p.D296N	p.D296N			Q16222	UAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.126)		6	1188	+	all_hematologic(112;0.115)		296					B2R6R8|Q5VTA9|Q5VTB0|Q5VTB1|Q96GM2	Missense_Mutation	SNP	ENST00000367925.1	37	c.886G>A		.	.	.	.	.	.	.	.	.	.	G	23.3	4.399756	0.83120	.	.	ENSG00000117143	ENST00000367926;ENST00000271469;ENST00000367925;ENST00000367924	T;T;T;T	0.19532	2.14;2.14;2.14;2.14	4.97	4.97	0.65823	.	0.043375	0.85682	D	0.000000	T	0.10594	0.0259	L	0.37897	1.145	0.54753	D	0.999982	B	0.24618	0.107	B	0.29663	0.105	T	0.07539	-1.0767	9	0.29301	T	0.29	-20.996	16.951	0.86245	0.0:0.0:1.0:0.0	.	296	Q16222-2	.	N	296	ENSP00000356903:D296N;ENSP00000271469:D296N;ENSP00000356902:D296N;ENSP00000356901:D296N	ENSP00000271469:D296N	D	+	1	0	UAP1	160823940	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.125000	0.94402	2.564000	0.86499	0.591000	0.81541	GAT		0.463	UAP1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000083203.1	NM_003115		43	108	0	0	0	1	0	43	108				
ARF6	382	broad.mit.edu	37	14	50360768	50360768	+	Missense_Mutation	SNP	G	G	C	rs61755568		TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr14:50360768G>C	ENST00000298316.5	+	2	861	c.314G>C	c.(313-315)cGc>cCc	p.R105P		NM_001663.3	NP_001654.1	P62330	ARF6_HUMAN	ADP-ribosylation factor 6	105					cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular component movement (GO:0006928)|cortical actin cytoskeleton organization (GO:0030866)|establishment of epithelial cell polarity (GO:0090162)|GTP catabolic process (GO:0006184)|hepatocyte apoptotic process (GO:0097284)|liver development (GO:0001889)|myeloid cell apoptotic process (GO:0033028)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|protein localization to cell surface (GO:0034394)|protein localization to endosome (GO:0036010)|protein transport (GO:0015031)|regulation of dendritic spine development (GO:0060998)|regulation of filopodium assembly (GO:0051489)|regulation of Rac protein signal transduction (GO:0035020)|ruffle organization (GO:0031529)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|ruffle (GO:0001726)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|thioesterase binding (GO:0031996)			endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)	4	all_epithelial(31;0.000822)|Breast(41;0.0117)					GAGCTGCACCGCATTATCAAT	0.587																																						ENST00000298316.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)	4						c.(313-315)cGc>cCc		ADP-ribosylation factor 6							47.0	43.0	45.0					14																	50360768		2203	4300	6503	SO:0001583	missense	382				cell adhesion|cellular component movement|cortical actin cytoskeleton organization|negative regulation of receptor-mediated endocytosis|positive regulation of actin filament polymerization|positive regulation of establishment of protein localization in plasma membrane|protein localization at cell surface|protein transport|regulation of dendritic spine development|regulation of filopodium assembly|regulation of Rac protein signal transduction|ruffle organization|small GTPase mediated signal transduction|vesicle-mediated transport	cell cortex|endosome membrane|filopodium membrane|Golgi apparatus|membrane fraction|ruffle	GTP binding|GTPase activity|thioesterase binding	g.chr14:50360768G>C		CCDS9695.1	14q21.3	2004-06-21			ENSG00000165527	ENSG00000165527		"""ADP-ribosylation factors"""	659	protein-coding gene	gene with protein product		600464				1993656, 10343114	Standard	NM_001663		Approved		uc001wxg.4	P62330	OTTHUMG00000140296	ENST00000298316.5:c.314G>C	14.37:g.50360768G>C	ENSP00000298316:p.Arg105Pro						p.R105P	NM_001663.3	NP_001654.1	P62330	ARF6_HUMAN			2	861	+	all_epithelial(31;0.000822)|Breast(41;0.0117)		105					P26438|Q6FGZ2	Missense_Mutation	SNP	ENST00000298316.5	37	c.314G>C	CCDS9695.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.755340	0.69648	.	.	ENSG00000165527	ENST00000298316	T	0.63913	-0.07	5.16	3.32	0.38043	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.78723	0.4328	M	0.85710	2.77	0.80722	D	1	D	0.65815	0.995	D	0.74023	0.982	T	0.79843	-0.1632	10	0.87932	D	0	-5.3849	10.8705	0.46881	0.071:0.1304:0.7986:0.0	.	105	P62330	ARF6_HUMAN	P	105	ENSP00000298316:R105P	ENSP00000298316:R105P	R	+	2	0	ARF6	49430518	1.000000	0.71417	0.995000	0.50966	0.986000	0.74619	9.835000	0.99442	0.572000	0.29383	-0.320000	0.08662	CGC		0.587	ARF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276883.1	NM_001663		17	42	0	0	0	1	0	17	42				
FARP1	10160	broad.mit.edu	37	13	99087858	99087858	+	Silent	SNP	G	G	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr13:99087858G>C	ENST00000319562.6	+	19	2437	c.2172G>C	c.(2170-2172)gtG>gtC	p.V724V	FARP1_ENST00000595437.1_Silent_p.V724V|FARP1-AS1_ENST00000432229.1_RNA|FARP1_ENST00000376586.2_Silent_p.V724V	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	724	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CGGAGATGGTGGCACAGCTCC	0.517																																						ENST00000376586.2																			0				breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49						c.(2170-2172)gtG>gtC		FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)							88.0	78.0	82.0					13																	99087858		2203	4300	6503	SO:0001819	synonymous_variant	10160				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:99087858G>C	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.2172G>C	13.37:g.99087858G>C						FARP1_ENST00000595437.1_Silent_p.V724V|FARP1_ENST00000319562.6_Silent_p.V724V|FARP1-AS1_ENST00000432229.1_RNA	p.V724V			Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		19	2508	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		724			DH.		Q5JVI9|Q6IQ29	Silent	SNP	ENST00000319562.6	37	c.2172G>C	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.107124	0.56291	.	.	ENSG00000152767	ENST00000423063	.	.	.	5.8	4.08	0.47627	.	.	.	.	.	T	0.59905	0.2228	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55496	-0.8132	4	.	.	.	.	9.6716	0.40015	0.2104:0.0:0.7896:0.0	.	.	.	.	S	27	.	.	W	+	2	0	FARP1	97885859	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.028000	0.41088	0.797000	0.33971	0.655000	0.94253	TGG		0.517	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		16	29	0	0	0	1	0	16	29				
FBN2	2201	broad.mit.edu	37	5	127730926	127730926	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr5:127730926G>C	ENST00000508053.1	-	15	2094	c.1120C>G	c.(1120-1122)Cgc>Ggc	p.R374G	FBN2_ENST00000508989.1_Missense_Mutation_p.R341G|FBN2_ENST00000262464.4_Missense_Mutation_p.R374G			P35556	FBN2_HUMAN	fibrillin 2	374	TB 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)		TGTGCACAGCGGCCATTCACC	0.517																																						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.(1120-1122)Cgc>Ggc		fibrillin 2							74.0	69.0	71.0					5																	127730926		2203	4300	6503	SO:0001583	missense	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.chr5:127730926G>C	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.1120C>G	5.37:g.127730926G>C	ENSP00000424571:p.Arg374Gly					FBN2_ENST00000508989.1_Missense_Mutation_p.R341G|FBN2_ENST00000262464.4_Missense_Mutation_p.R374G	p.R374G			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)	15	2094	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	374			TB 2.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.1120C>G	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681623	0.68042	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.93366	-3.21;-3.21;-3.21	4.44	4.44	0.53790	Matrix fibril-associated (3);TGF-beta binding (1);	0.000000	0.64402	D	0.000004	D	0.94591	0.8257	M	0.83012	2.62	0.53688	D	0.999973	P;P	0.43909	0.821;0.821	P;P	0.47786	0.557;0.557	D	0.92830	0.6279	10	0.15952	T	0.53	.	18.389	0.90475	0.0:0.0:1.0:0.0	.	341;374	D6RJI3;P35556	.;FBN2_HUMAN	G	374;374;341	ENSP00000262464:R374G;ENSP00000424571:R374G;ENSP00000425596:R341G	ENSP00000262464:R374G	R	-	1	0	FBN2	127758825	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	8.922000	0.92789	2.750000	0.94351	0.655000	0.94253	CGC		0.517	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		7	16	0	0	0	1	0	7	16				
BTN2A3P	54718	broad.mit.edu	37	6	26423481	26423481	+	RNA	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:26423481G>A	ENST00000466808.2	+	0	400							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)											CTGCAATGAGGCCATCCTGCA	0.512																																						ENST00000466808.2																			0																				112.0	80.0	91.0					6																	26423481		2203	4300	6503			54718							g.chr6:26423481G>A	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26423481G>A														0	400	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.512	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		17	34	0	0	0	1	0	17	34				
ZNF536	9745	broad.mit.edu	37	19	30935685	30935685	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:30935685C>G	ENST00000355537.3	+	2	1363	c.1216C>G	c.(1216-1218)Ccc>Gcc	p.P406A		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	406					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)	p.P406T(1)		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)					GAACAAGTCCCCCAGCGACCC	0.622																																						ENST00000355537.3																			1	Substitution - Missense(1)	p.P406T(1)	lung(1)	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.(1216-1218)Ccc>Gcc		zinc finger protein 536							50.0	51.0	51.0					19																	30935685		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935685C>G		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.1216C>G	19.37:g.30935685C>G	ENSP00000347730:p.Pro406Ala						p.P406A	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			2	1363	+	Esophageal squamous(110;0.0834)		406					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.1216C>G	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	8.601	0.886898	0.17540	.	.	ENSG00000198597	ENST00000355537	T	0.09163	3.01	5.44	4.38	0.52667	.	0.124640	0.64402	D	0.000015	T	0.09247	0.0228	L	0.40543	1.245	0.38607	D	0.950817	B;B	0.12630	0.006;0.006	B;B	0.09377	0.004;0.004	T	0.09207	-1.0685	10	0.02654	T	1	-22.0058	16.0391	0.80651	0.0:0.8653:0.1347:0.0	.	406;406	A7E228;O15090	.;ZN536_HUMAN	A	406	ENSP00000347730:P406A	ENSP00000347730:P406A	P	+	1	0	ZNF536	35627525	1.000000	0.71417	0.973000	0.42090	0.945000	0.59286	4.874000	0.63064	1.240000	0.43803	0.591000	0.81541	CCC		0.622	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		14	36	0	0	0	1	0	14	36				
SKIV2L2	23517	broad.mit.edu	37	5	54683820	54683820	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr5:54683820G>A	ENST00000230640.5	+	19	2325	c.2071G>A	c.(2071-2073)Gat>Aat	p.D691N	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.D590N	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	691					maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TGGTGAACTGGATCCTTTGTA	0.373																																					Melanoma(2;92 134 23744 29976 33782)	ENST00000230640.5																			0				NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(2071-2073)Gat>Aat		superkiller viralicidic activity 2-like 2 (S. cerevisiae)							98.0	98.0	98.0					5																	54683820		2203	4300	6503	SO:0001583	missense	23517				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr5:54683820G>A	D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 118"""		"""KIAA0052"""	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.2071G>A	5.37:g.54683820G>A	ENSP00000230640:p.Asp691Asn					SKIV2L2_ENST00000545714.1_Missense_Mutation_p.D590N	p.D691N	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN			19	2325	+		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)	691					Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Missense_Mutation	SNP	ENST00000230640.5	37	c.2071G>A	CCDS3967.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.212675	0.58452	.	.	ENSG00000039123	ENST00000230640;ENST00000545714	T;T	0.31247	1.5;1.52	5.7	5.7	0.88788	.	0.108239	0.64402	D	0.000007	T	0.34164	0.0888	L	0.60904	1.88	0.58432	D	0.999999	B;B	0.18013	0.025;0.005	B;B	0.18561	0.014;0.022	T	0.10200	-1.0640	10	0.20519	T	0.43	-20.312	19.839	0.96675	0.0:0.0:1.0:0.0	.	590;691	F5H7E2;P42285	.;SK2L2_HUMAN	N	691;590	ENSP00000230640:D691N;ENSP00000442583:D590N	ENSP00000230640:D691N	D	+	1	0	SKIV2L2	54719577	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.550000	0.82173	2.696000	0.92011	0.455000	0.32223	GAT		0.373	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1			12	52	0	0	0	1	0	12	52				
MORF4L2	9643	broad.mit.edu	37	X	102931678	102931678	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chrX:102931678T>A	ENST00000441076.2	-	4	582	c.278A>T	c.(277-279)gAa>gTa	p.E93V	MORF4L2_ENST00000360458.1_Missense_Mutation_p.E93V|MORF4L2_ENST00000422154.2_Missense_Mutation_p.E93V|MORF4L2_ENST00000423833.2_Missense_Mutation_p.E93V|MORF4L2_ENST00000433176.2_Missense_Mutation_p.E93V|MORF4L2_ENST00000492116.1_5'UTR|MORF4L2_ENST00000451301.1_Missense_Mutation_p.E93V	NM_001142419.1|NM_012286.2	NP_001135891.1|NP_036418.1	Q15014	MO4L2_HUMAN	mortality factor 4 like 2	93					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA repair (GO:0006281)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						CTGAGGTGCTTCGCTGGTACT	0.542																																						ENST00000423833.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						c.(277-279)gAa>gTa		mortality factor 4 like 2							70.0	69.0	69.0					X																	102931678		2203	4300	6503	SO:0001583	missense	9643				chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding	g.chrX:102931678T>A	AF100620	CCDS14512.1	Xq22	2010-11-24			ENSG00000123562	ENSG00000123562			16849	protein-coding gene	gene with protein product	"""MORF-related gene X"""	300409				9891081, 7584026	Standard	NM_012286		Approved	KIAA0026, MRGX	uc011msa.2	Q15014	OTTHUMG00000022104	ENST00000441076.2:c.278A>T	X.37:g.102931678T>A	ENSP00000391969:p.Glu93Val					MORF4L2_ENST00000492116.1_5'UTR|MORF4L2_ENST00000451301.1_Missense_Mutation_p.E93V|MORF4L2_ENST00000441076.2_Missense_Mutation_p.E93V|MORF4L2_ENST00000372620.1_5'UTR|MORF4L2_ENST00000360458.1_Missense_Mutation_p.E93V|MORF4L2_ENST00000433176.2_Missense_Mutation_p.E93V|MORF4L2_ENST00000422154.2_Missense_Mutation_p.E93V	p.E93V			Q15014	MO4L2_HUMAN			3	1503	-			93					B3KP92|D3DXA5|Q567V0|Q8J026	Missense_Mutation	SNP	ENST00000441076.2	37	c.278A>T	CCDS14512.1	.	.	.	.	.	.	.	.	.	.	T	17.67	3.446169	0.63178	.	.	ENSG00000123562	ENST00000360458;ENST00000433176;ENST00000422154;ENST00000451301;ENST00000372619;ENST00000441076;ENST00000423833;ENST00000434230;ENST00000418819;ENST00000442614	T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37	4.38	4.38	0.52667	.	0.156442	0.56097	D	0.000031	T	0.49338	0.1551	M	0.65498	2.005	0.52501	D	0.999955	P	0.41188	0.741	P	0.53809	0.735	T	0.45190	-0.9278	10	0.38643	T	0.18	-5.8742	10.912	0.47114	0.0:0.0:0.0:1.0	.	93	Q15014	MO4L2_HUMAN	V	93;93;93;93;75;93;93;93;93;93	ENSP00000353643:E93V;ENSP00000415476:E93V;ENSP00000394417:E93V;ENSP00000410532:E93V;ENSP00000391969:E93V;ENSP00000416120:E93V	ENSP00000353643:E93V	E	-	2	0	MORF4L2	102818334	1.000000	0.71417	0.987000	0.45799	0.996000	0.88848	5.239000	0.65371	1.940000	0.56252	0.486000	0.48141	GAA		0.542	MORF4L2-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057732.1	NM_012286		47	39	0	0	0	1	0	47	39				
COL24A1	255631	broad.mit.edu	37	1	86210435	86210435	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:86210435T>C	ENST00000370571.2	-	57	4952	c.4586A>G	c.(4585-4587)cAc>cGc	p.H1529R	COL24A1_ENST00000436319.1_Missense_Mutation_p.H1508R	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1529	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				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)		CTTGATGCTGTGCAATAAATT	0.388																																						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.(4585-4587)cAc>cGc		collagen, type XXIV, alpha 1							204.0	188.0	193.0					1																	86210435		1878	4105	5983	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86210435T>C	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.4586A>G	1.37:g.86210435T>C	ENSP00000359603:p.His1529Arg					COL24A1_ENST00000436319.1_Missense_Mutation_p.H1508R	p.H1529R	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	57	4952	-			1529			Fibrillar collagen NC1.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.4586A>G	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	T	11.24	1.579125	0.28180	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.93366	-3.21;-2.57	5.49	3.19	0.36642	Fibrillar collagen, C-terminal (2);	0.303860	0.23910	N	0.043345	T	0.80199	0.4579	L	0.34521	1.04	0.35100	D	0.7651	B;B	0.06786	0.001;0.0	B;B	0.08055	0.002;0.003	T	0.68861	-0.5297	10	0.32370	T	0.25	.	9.3109	0.37903	0.0:0.1482:0.0:0.8518	.	1529;1508	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	R	1529;1508	ENSP00000359603:H1529R;ENSP00000392531:H1508R	ENSP00000359603:H1529R	H	-	2	0	COL24A1	85983023	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.191000	0.50981	0.481000	0.27557	0.460000	0.39030	CAC		0.388	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		21	63	0	0	0	1	0	21	63				
DICER1	23405	broad.mit.edu	37	14	95574699	95574699	+	Silent	SNP	T	T	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr14:95574699T>G	ENST00000526495.1	-	17	2689	c.2398A>C	c.(2398-2400)Aga>Cga	p.R800R	DICER1_ENST00000343455.3_Silent_p.R800R|DICER1_ENST00000541352.1_Silent_p.R800R|DICER1_ENST00000556045.1_5'Flank|DICER1_ENST00000527414.1_Silent_p.R800R|DICER1_ENST00000393063.1_Silent_p.R800R			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	800					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CCAAAGCATCTTGTGGTATCT	0.398			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													ENST00000526495.1			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"""Mis F, N"""	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma	"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""		0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.(2398-2400)Aga>Cga		dicer 1, ribonuclease type III							167.0	160.0	162.0					14																	95574699		2203	4300	6503	SO:0001819	synonymous_variant	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95574699T>G	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.2398A>C	14.37:g.95574699T>G						DICER1_ENST00000527414.1_Silent_p.R800R|DICER1_ENST00000393063.1_Silent_p.R800R|DICER1_ENST00000541352.1_Silent_p.R800R|DICER1_ENST00000343455.3_Silent_p.R800R	p.R800R			Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	17	2689	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	800					A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Silent	SNP	ENST00000526495.1	37	c.2398A>C	CCDS9931.1																																																																																				0.398	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			48	119	0	0	0	1	0	48	119				
MST1R	4486	broad.mit.edu	37	3	49933215	49933215	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:49933215C>A	ENST00000296474.3	-	12	2922	c.2895G>T	c.(2893-2895)ttG>ttT	p.L965F	MST1R_ENST00000344206.4_Missense_Mutation_p.L916F	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	965	Poly-Leu.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CAAGCAGCAGCAAAGGCAGCA	0.582																																						ENST00000296474.3																			0				cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37						c.(2893-2895)ttG>ttT		macrophage stimulating 1 receptor (c-met-related tyrosine kinase)							54.0	56.0	55.0					3																	49933215		2203	4300	6503	SO:0001583	missense	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49933215C>A	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.2895G>T	3.37:g.49933215C>A	ENSP00000296474:p.Leu965Phe					MST1R_ENST00000344206.4_Missense_Mutation_p.L916F	p.L965F	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	12	2922	-			965					B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	ENST00000296474.3	37	c.2895G>T	CCDS2807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.67|16.67	3.187453|3.187453	0.57909|0.57909	.|.	.|.	ENSG00000164078|ENSG00000164078	ENST00000434765|ENST00000296474;ENST00000344206	.|T;T	.|0.75704	.|-0.84;-0.96	5.43|5.43	3.53|3.53	0.40419|0.40419	.|.	.|0.372685	.|0.29752	.|N	.|0.011290	T|T	0.63177|0.63177	0.2489|0.2489	L|L	0.45137|0.45137	1.4|1.4	0.31364|0.31364	N|N	0.68106|0.68106	.|B	.|0.29612	.|0.251	.|B	.|0.26969	.|0.075	T|T	0.66114|0.66114	-0.6004|-0.6004	5|10	.|0.44086	.|T	.|0.13	-14.4235|-14.4235	8.9845|8.9845	0.35986|0.35986	0.0:0.768:0.1484:0.0837|0.0:0.768:0.1484:0.0837	.|.	.|965	.|Q04912	.|RON_HUMAN	F|F	12|965;916	.|ENSP00000296474:L965F;ENSP00000341325:L916F	.|ENSP00000296474:L965F	C|L	-|-	2|3	0|2	MST1R|MST1R	49908219|49908219	0.414000|0.414000	0.25408|0.25408	0.877000|0.877000	0.34402|0.34402	0.746000|0.746000	0.42486|0.42486	0.621000|0.621000	0.24418|0.24418	1.432000|1.432000	0.47375|0.47375	0.491000|0.491000	0.48974|0.48974	TGC|TTG		0.582	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			3	19	1	0	6.4e-05	1	6.80755e-05	3	19				
SMG1	23049	broad.mit.edu	37	16	18887699	18887699	+	Missense_Mutation	SNP	T	T	C	rs376234691		TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr16:18887699T>C	ENST00000446231.2	-	13	2049	c.1637A>G	c.(1636-1638)cAt>cGt	p.H546R	SMG1_ENST00000389467.3_Missense_Mutation_p.H546R|SMG1_ENST00000565224.1_Missense_Mutation_p.H520R			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	546	Interaction with SMG8 and SMG9.		H -> R. {ECO:0000269|PubMed:17344846}.		DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.H542R(2)|p.H546R(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ATAAACAGCATGGGCTACAGC	0.333																																						ENST00000446231.2																			3	Substitution - Missense(3)	p.H542R(2)|p.H546R(1)	kidney(2)|skin(1)	NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(1636-1638)cAt>cGt		SMG1 phosphatidylinositol 3-kinase-related kinase							16.0	14.0	14.0					16																	18887699		1793	4006	5799	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18887699T>C	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.1637A>G	16.37:g.18887699T>C	ENSP00000402515:p.His546Arg					SMG1_ENST00000389467.3_Missense_Mutation_p.H546R|SMG1_ENST00000565224.1_Missense_Mutation_p.H520R	p.H546R			Q96Q15	SMG1_HUMAN			13	2049	-			546		H -> R.	Interaction with SMG8 and SMG9.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.1637A>G	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	T	14.49	2.550408	0.45383	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01076	5.37;5.37	5.49	5.49	0.81192	Armadillo-type fold (1);	0.000000	0.64402	U	0.000003	T	0.01124	0.0037	N	0.24115	0.695	0.38158	D	0.938958	B	0.26445	0.149	B	0.24541	0.054	T	0.66618	-0.5878	10	0.25106	T	0.35	.	11.8709	0.52519	0.1306:0.0:0.0:0.8694	.	546	Q96Q15	SMG1_HUMAN	R	546	ENSP00000402515:H546R;ENSP00000374118:H546R	ENSP00000374118:H546R	H	-	2	0	SMG1	18795200	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.089000	0.57685	2.073000	0.62155	0.402000	0.26972	CAT		0.333	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		3	25	0	0	0	1	0	3	25				
KLKB1	3818	broad.mit.edu	37	4	187155174	187155174	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:187155174C>A	ENST00000264690.6	+	4	477	c.290C>A	c.(289-291)tCt>tAt	p.S97Y	KLKB1_ENST00000513864.1_Missense_Mutation_p.S97Y	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	97	Apple 1. {ECO:0000255|PROSITE- ProRule:PRU00315}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		GGTGCAGTTTCTGGACATTCC	0.368																																						ENST00000264690.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40						c.(289-291)tCt>tAt		kallikrein B, plasma (Fletcher factor) 1							157.0	149.0	152.0					4																	187155174		2203	4300	6503	SO:0001583	missense	3818				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr4:187155174C>A	M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"""Kallikreins"""	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.290C>A	4.37:g.187155174C>A	ENSP00000264690:p.Ser97Tyr					KLKB1_ENST00000513864.1_Missense_Mutation_p.S97Y	p.S97Y	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)	4	477	+		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	97			Apple 1.		A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Missense_Mutation	SNP	ENST00000264690.6	37	c.290C>A	CCDS34120.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.38|17.38	3.375486|3.375486	0.61735|0.61735	.|.	.|.	ENSG00000164344|ENSG00000164344	ENST00000511608|ENST00000428196;ENST00000264690;ENST00000446598;ENST00000414291;ENST00000513864;ENST00000418715	.|D;D;D;D;D	.|0.89746	.|-2.56;-2.56;-2.56;-2.56;-2.56	4.73|4.73	4.73|4.73	0.59995|0.59995	.|Apple domain (2);PAN-1 domain (1);Apple-like (1);	.|0.000000	.|0.64402	.|D	.|0.000002	D|D	0.95030|0.95030	0.8391|0.8391	M|M	0.88450|0.88450	2.955|2.955	0.41668|0.41668	D|D	0.989226|0.989226	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;0.999	D|D	0.95743|0.95743	0.8785|0.8785	5|10	.|0.87932	.|D	.|0	.|.	15.0883|15.0883	0.72174|0.72174	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|59;97	.|E7EQA8;P03952	.|.;KLKB1_HUMAN	M|Y	145|97;97;59;59;97;59	.|ENSP00000412366:S97Y;ENSP00000264690:S97Y;ENSP00000415563:S59Y;ENSP00000392231:S59Y;ENSP00000424469:S97Y	.|ENSP00000264690:S97Y	L|S	+|+	1|2	2|0	KLKB1|KLKB1	187392168|187392168	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.658000|0.658000	0.38924|0.38924	4.472000|4.472000	0.60189|0.60189	2.626000|2.626000	0.88956|0.88956	0.650000|0.650000	0.86243|0.86243	CTG|TCT		0.368	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	NM_000892		19	64	1	0	7.45023e-12	1	9.68315e-12	19	64				
ZNF440	126070	broad.mit.edu	37	19	11943503	11943503	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:11943503C>G	ENST00000304060.5	+	4	1676	c.1512C>G	c.(1510-1512)atC>atG	p.I504M		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	504					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CTTTTGATATCATGAAAGGAC	0.423																																						ENST00000304060.5																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1510-1512)atC>atG		zinc finger protein 440							59.0	65.0	63.0					19																	11943503		2182	4289	6471	SO:0001583	missense	126070				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11943503C>G	AK095252	CCDS42503.1	19p13.13	2013-01-08	2006-08-14	2006-08-14	ENSG00000171295	ENSG00000171295		"""Zinc fingers, C2H2-type"", ""-"""	20874	protein-coding gene	gene with protein product							Standard	NM_152357		Approved	FLJ37933	uc002msp.1	Q8IYI8	OTTHUMG00000156403	ENST00000304060.5:c.1512C>G	19.37:g.11943503C>G	ENSP00000305373:p.Ile504Met						p.I504M	NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN			4	1676	+			504					Q8N1R9	Missense_Mutation	SNP	ENST00000304060.5	37	c.1512C>G	CCDS42503.1	.	.	.	.	.	.	.	.	.	.	c	10.56	1.385600	0.25031	.	.	ENSG00000171295	ENST00000304060	T	0.05319	3.46	1.22	1.22	0.21188	.	.	.	.	.	T	0.07593	0.0191	L	0.59436	1.845	0.29937	N	0.821417	B	0.14438	0.01	B	0.14578	0.011	T	0.14671	-1.0464	9	0.24483	T	0.36	.	9.9897	0.41863	0.0:1.0:0.0:0.0	.	504	Q8IYI8	ZN440_HUMAN	M	504	ENSP00000305373:I504M	ENSP00000305373:I504M	I	+	3	3	ZNF440	11804503	0.215000	0.23574	0.003000	0.11579	0.008000	0.06430	1.266000	0.33039	0.991000	0.38814	0.205000	0.17691	ATC		0.423	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344508.1	NM_152357		17	40	0	0	0	1	0	17	40				
MEGF6	1953	broad.mit.edu	37	1	3418409	3418409	+	Silent	SNP	C	C	G	rs200967793		TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:3418409C>G	ENST00000356575.4	-	18	2491	c.2265G>C	c.(2263-2265)acG>acC	p.T755T	MEGF6_ENST00000294599.4_Silent_p.T650T	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	755	EGF-like 12. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GGCACTGCCCCGTGACCCCGT	0.706																																					Ovarian(73;978 3658)	ENST00000356575.4																			0				cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(2263-2265)acG>acC		multiple EGF-like-domains 6							21.0	29.0	26.0					1																	3418409		1989	4145	6134	SO:0001819	synonymous_variant	1953					extracellular region	calcium ion binding	g.chr1:3418409C>G	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.2265G>C	1.37:g.3418409C>G						MEGF6_ENST00000294599.4_Silent_p.T650T	p.T755T	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	18	2491	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	755			EGF-like 12.		Q4AC86|Q5VV39	Silent	SNP	ENST00000356575.4	37	c.2265G>C	CCDS41237.1																																																																																				0.706	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		8	16	0	0	0	1	0	8	16				
CELF5	60680	broad.mit.edu	37	19	3282450	3282450	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:3282450C>A	ENST00000292672.2	+	8	1030	c.993C>A	c.(991-993)caC>caA	p.H331Q	CELF5_ENST00000588101.1_3'UTR|CELF5_ENST00000541430.2_Missense_Mutation_p.H306Q	NM_021938.3	NP_068757.2	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	331					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						CAGGTGGGCACCCTGCCCTGG	0.622																																						ENST00000541430.2																			0				kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						c.(916-918)caC>caA		CUGBP, Elav-like family member 5							82.0	66.0	71.0					19																	3282450		2203	4300	6503	SO:0001583	missense	60680				mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:3282450C>A	AF248649	CCDS12106.1, CCDS54197.1	19p13	2013-02-12	2010-02-19	2010-02-19		ENSG00000161082		"""RNA binding motif (RRM) containing"""	14058	protein-coding gene	gene with protein product		612680	"""Bruno (Drosophila) -like 5, RNA binding protein"", ""bruno-like 5, RNA binding protein (Drosophila)"""	BRUNOL5		10893231	Standard	NM_001172673		Approved		uc002lxm.3	Q8N6W0		ENST00000292672.2:c.993C>A	19.37:g.3282450C>A	ENSP00000292672:p.His331Gln					CELF5_ENST00000292672.2_Missense_Mutation_p.H331Q|CELF5_ENST00000588101.1_3'UTR	p.H306Q	NM_001172673.1	NP_001166144.1	Q8N6W0	CELF5_HUMAN			8	954	+			331					D6W614|O75253|Q59GP2|Q86VW6|Q9BZC0|Q9NR86	Missense_Mutation	SNP	ENST00000292672.2	37	c.918C>A	CCDS12106.1	.	.	.	.	.	.	.	.	.	.	C	3.336	-0.135540	0.06711	.	.	ENSG00000161082	ENST00000292672;ENST00000541430;ENST00000334293	T;T;T	0.24723	2.46;2.0;1.84	4.08	3.04	0.35103	.	0.123348	0.56097	D	0.000030	T	0.09247	0.0228	N	0.05230	-0.09	0.43014	D	0.994553	B;B;B	0.22746	0.006;0.074;0.001	B;B;B	0.22880	0.003;0.042;0.004	T	0.19679	-1.0298	10	0.02654	T	1	-30.8204	8.1186	0.30957	0.0:0.8332:0.0:0.1668	.	217;306;331	B4DFI3;Q8N6W0-2;Q8N6W0	.;.;CELF5_HUMAN	Q	331;306;217	ENSP00000292672:H331Q;ENSP00000443498:H306Q;ENSP00000335182:H217Q	ENSP00000292672:H331Q	H	+	3	2	CELF5	3233450	0.010000	0.17322	1.000000	0.80357	0.500000	0.33767	-1.047000	0.03521	2.279000	0.76181	0.561000	0.74099	CAC		0.622	CELF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452574.1	NM_021938		7	35	1	0	0.000274275	1	0.00028767	7	35				
TRBC2	28638	broad.mit.edu	37	7	142498885	142498885	+	RNA	SNP	T	T	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:142498885T>G	ENST00000466254.1	+	0	161							A0A5B9	TRBC2_HUMAN	T cell receptor beta constant 2							integral component of membrane (GO:0016021)											AGGTGCACAGTGGGGTCAGCA	0.642																																						ENST00000466254.1																			0																				99.0	116.0	111.0					7																	142498885		2163	4260	6423			28638							g.chr7:142498885T>G	M12888		7q34	2012-02-08			ENSG00000211772	ENSG00000211772		"""T cell receptors / TRB locus"""	12157	other	T cell receptor gene		615445				3860845, 8951372	Standard	NG_001333		Approved	TCRBC2		A0A5B9	OTTHUMG00000158912		7.37:g.142498885T>G														0	161	+									RNA	SNP	ENST00000466254.1	37																																																																																						0.642	TRBC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000352524.2	NG_001333		12	87	0	0	0	1	0	12	87				
SPOCK1	6695	broad.mit.edu	37	5	136476329	136476329	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr5:136476329A>C	ENST00000394945.1	-	4	456	c.287T>G	c.(286-288)gTg>gGg	p.V96G	SPOCK1_ENST00000282223.7_Missense_Mutation_p.V96G	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	96					cell adhesion (GO:0007155)|central nervous system neuron differentiation (GO:0021953)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron projection development (GO:0010977)|nervous system development (GO:0007399)|neurogenesis (GO:0022008)|neuron migration (GO:0001764)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|postsynaptic density (GO:0014069)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasm (GO:0016528)	calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGTCACACACACTTTGTGAGG	0.612																																						ENST00000394945.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18						c.(286-288)gTg>gGg		sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1							74.0	60.0	64.0					5																	136476329		2203	4300	6503	SO:0001583	missense	6695				cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding	g.chr5:136476329A>C	AF231124	CCDS4191.1	5q31.2	2008-02-05	2005-11-04	2005-11-04	ENSG00000152377	ENSG00000152377			11251	protein-coding gene	gene with protein product		602264	"""sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican)"""	TIC1, SPOCK		9545645	Standard	NM_004598		Approved	testican-1	uc003lbp.3	Q08629	OTTHUMG00000129157	ENST00000394945.1:c.287T>G	5.37:g.136476329A>C	ENSP00000378401:p.Val96Gly					SPOCK1_ENST00000282223.7_Missense_Mutation_p.V96G	p.V96G	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		4	456	-			96					B3KSW3|Q59EW0|Q8N630|Q9UCL8	Missense_Mutation	SNP	ENST00000394945.1	37	c.287T>G	CCDS4191.1	.	.	.	.	.	.	.	.	.	.	A	29.3	4.995794	0.93167	.	.	ENSG00000152377	ENST00000394945;ENST00000282223;ENST00000505690	T;T;T	0.61274	0.4;0.4;0.12	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000001	T	0.74412	0.3713	M	0.71036	2.16	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.77531	-0.2553	10	0.87932	D	0	.	13.9868	0.64341	1.0:0.0:0.0:0.0	.	96	Q08629	TICN1_HUMAN	G	96	ENSP00000378401:V96G;ENSP00000282223:V96G;ENSP00000424517:V96G	ENSP00000282223:V96G	V	-	2	0	SPOCK1	136504228	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.061000	0.93913	2.183000	0.69458	0.528000	0.53228	GTG		0.612	SPOCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251222.1	NM_004598		4	10	0	0	0	1	0	4	10				
TIMM21	29090	broad.mit.edu	37	18	71816197	71816197	+	Missense_Mutation	SNP	C	C	G	rs547145109		TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr18:71816197C>G	ENST00000169551.6	+	1	452	c.154C>G	c.(154-156)Ctg>Gtg	p.L52V	FBXO15_ENST00000269500.5_5'Flank|TIMM21_ENST00000580087.1_Missense_Mutation_p.L52V|FBXO15_ENST00000419743.2_5'Flank	NM_014177.2	NP_054896.2	Q9BVV7	TIM21_HUMAN	translocase of inner mitochondrial membrane 21 homolog (yeast)	52					cellular protein metabolic process (GO:0044267)|mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|protein import into mitochondrial matrix (GO:0030150)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane presequence translocase complex (GO:0005744)											AAAGAAAACGCTGCGACCTAG	0.493																																						ENST00000580087.1																			0											c.(154-156)Ctg>Gtg		translocase of inner mitochondrial membrane 21 homolog (yeast)							149.0	158.0	155.0					18																	71816197		2203	4300	6503	SO:0001583	missense	29090				protein transport|transmembrane transport	integral to membrane|mitochondrial membrane		g.chr18:71816197C>G	BC000892	CCDS12003.1	18q22.3	2011-11-25	2011-11-25	2011-11-25	ENSG00000075336	ENSG00000075336			25010	protein-coding gene	gene with protein product		615180	"""chromosome 18 open reading frame 55"""	C18orf55		11042152	Standard	NM_014177		Approved	HSPC154, TIM21	uc010dqr.1	Q9BVV7	OTTHUMG00000132844	ENST00000169551.6:c.154C>G	18.37:g.71816197C>G	ENSP00000169551:p.Leu52Val					TIMM21_ENST00000169551.6_Missense_Mutation_p.L52V	p.L52V			Q9BVV7	TI21L_HUMAN			1	440	+			52					Q9P010	Missense_Mutation	SNP	ENST00000169551.6	37	c.154C>G	CCDS12003.1	.	.	.	.	.	.	.	.	.	.	G	0.120	-1.126446	0.01770	.	.	ENSG00000075336	ENST00000169551	T	0.42513	0.97	4.74	3.86	0.44501	.	1.366640	0.04747	N	0.423892	T	0.12646	0.0307	N	0.00138	-2.015	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17623	-1.0363	10	0.02654	T	1	-1.578	12.9609	0.58458	0.0:0.5327:0.4673:0.0	.	52	Q9BVV7	TI21L_HUMAN	V	52	ENSP00000169551:L52V	ENSP00000169551:L52V	L	+	1	2	C18orf55	69967177	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	0.251000	0.18257	0.597000	0.29811	-0.127000	0.14921	CTG		0.493	TIMM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256318.1	NM_014177		36	82	0	0	0	1	0	36	82				
RBBP6	5930	broad.mit.edu	37	16	24578538	24578538	+	Missense_Mutation	SNP	T	T	G	rs16973840	byFrequency	TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr16:24578538T>G	ENST00000319715.4	+	15	2096	c.1664T>G	c.(1663-1665)gTc>gGc	p.V555G	RBBP6_ENST00000348022.2_Missense_Mutation_p.V555G|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	555			V -> A (in dbSNP:rs16973840).		embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GCAACTCCAGTCTTTGTAcct	0.498																																						ENST00000319715.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46						c.(1663-1665)gTc>gGc		retinoblastoma binding protein 6							169.0	156.0	160.0					16																	24578538		2197	4300	6497	SO:0001583	missense	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24578538T>G		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.1664T>G	16.37:g.24578538T>G	ENSP00000317872:p.Val555Gly					RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Missense_Mutation_p.V555G	p.V555G	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	15	2096	+			555		V -> A (in dbSNP:rs16973840).			Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	37	c.1664T>G	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	T	12.72	2.022572	0.35701	.	.	ENSG00000122257	ENST00000319715;ENST00000348022	T;T	0.20069	2.1;2.17	5.8	5.8	0.92144	.	0.119614	0.36972	N	0.002308	T	0.23572	0.0570	L	0.29908	0.895	0.58432	D	0.999994	D;D	0.63046	0.992;0.973	P;P	0.51453	0.67;0.469	T	0.01508	-1.1337	10	0.72032	D	0.01	-12.9792	10.4808	0.44691	0.0:0.0723:0.0:0.9277	.	555;555	Q7Z6E9-2;Q7Z6E9	.;RBBP6_HUMAN	G	555	ENSP00000317872:V555G;ENSP00000316291:V555G	ENSP00000317872:V555G	V	+	2	0	RBBP6	24486039	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.133000	0.50531	2.209000	0.71365	0.460000	0.39030	GTC		0.498	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		33	105	0	0	0	1	0	33	105				
SCN2A	6326	broad.mit.edu	37	2	166245537	166245537	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:166245537T>A	ENST00000375437.2	+	27	5511	c.5221T>A	c.(5221-5223)Tca>Aca	p.S1741T	SCN2A_ENST00000375427.2_Missense_Mutation_p.S1741T|SCN2A_ENST00000283256.6_Missense_Mutation_p.S1741T|SCN2A_ENST00000357398.3_Missense_Mutation_p.S1741T	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1741					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCCTGGAAGCTCAGTTAAAGG	0.458																																						ENST00000375437.2																			0				NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(5221-5223)Tca>Aca		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						194.0	191.0	192.0					2																	166245537		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166245537T>A	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.5221T>A	2.37:g.166245537T>A	ENSP00000364586:p.Ser1741Thr					SCN2A_ENST00000283256.6_Missense_Mutation_p.S1741T|SCN2A_ENST00000375427.2_Missense_Mutation_p.S1741T|SCN2A_ENST00000357398.3_Missense_Mutation_p.S1741T	p.S1741T	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN			27	5511	+			1741					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.5221T>A	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	T	10.72	1.428467	0.25726	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.96200	-3.94;-3.94;-3.94;-3.94	5.72	5.72	0.89469	Ion transport (1);	0.000000	0.64402	D	0.000018	D	0.93933	0.8058	N	0.16233	0.39	0.33046	D	0.532087	B;D	0.56035	0.193;0.974	B;P	0.59487	0.248;0.858	D	0.95113	0.8240	10	0.52906	T	0.07	.	11.4369	0.50072	0.1345:0.0:0.0:0.8655	.	1741;1741	Q99250-2;Q99250	.;SCN2A_HUMAN	T	1741	ENSP00000364586:S1741T;ENSP00000349973:S1741T;ENSP00000283256:S1741T;ENSP00000364576:S1741T	ENSP00000283256:S1741T	S	+	1	0	SCN2A	165953783	0.987000	0.35691	1.000000	0.80357	0.976000	0.68499	2.171000	0.42453	2.319000	0.78375	0.524000	0.50904	TCA		0.458	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		57	199	0	0	0	1	0	57	199				
MTHFD2P1	100287639	broad.mit.edu	37	3	95374606	95374606	+	RNA	SNP	C	C	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:95374606C>G	ENST00000494840.1	-	0	1255					NR_077228.1				methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase pseudogene 1																		GTGGAAGGTGCGAGAGCGCGG	0.512																																						ENST00000494840.1																			0																																																			100287639							g.chr3:95374606C>G			3q11.2	2013-06-19			ENSG00000244681	ENSG00000244681			48859	pseudogene	pseudogene							Standard	NR_077228		Approved				OTTHUMG00000159027		3.37:g.95374606C>G								NR_077228.1						0	1255	-									RNA	SNP	ENST00000494840.1	37																																																																																						0.512	MTHFD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352943.1			4	9	0	0	0	1	0	4	9				
FRMPD2	143162	broad.mit.edu	37	10	49444559	49444559	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr10:49444559G>T	ENST00000374201.3	-	9	1261	c.959C>A	c.(958-960)gCc>gAc	p.A320D	FRMPD2_ENST00000407470.4_Missense_Mutation_p.A289D|FRMPD2_ENST00000305531.3_Missense_Mutation_p.A296D	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	320					tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TGTCATCGGGGCCTCTCCAGC	0.567																																						ENST00000374201.3																			0				NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66						c.(958-960)gCc>gAc		FERM and PDZ domain containing 2							89.0	90.0	90.0					10																	49444559		2203	4300	6503	SO:0001583	missense	143162				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	g.chr10:49444559G>T	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.959C>A	10.37:g.49444559G>T	ENSP00000363317:p.Ala320Asp					FRMPD2_ENST00000407470.4_Missense_Mutation_p.A289D|FRMPD2_ENST00000305531.3_Missense_Mutation_p.A296D	p.A320D	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN		Kidney(211;0.201)	9	1261	-			320					B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	ENST00000374201.3	37	c.959C>A	CCDS31195.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154943	0.57259	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	T;T;T	0.64260	-0.04;-0.09;-0.09	5.0	4.08	0.47627	.	.	.	.	.	T	0.73583	0.3605	M	0.65975	2.015	0.27854	N	0.940626	D;D;D	0.76494	0.999;0.991;0.999	D;P;D	0.66351	0.943;0.76;0.943	T	0.64287	-0.6443	9	0.56958	D	0.05	.	9.8629	0.41125	0.1009:0.0:0.8991:0.0	.	296;320;289	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	D	320;296;289	ENSP00000363317:A320D;ENSP00000307079:A296D;ENSP00000384339:A289D	ENSP00000307079:A296D	A	-	2	0	FRMPD2	49114565	1.000000	0.71417	1.000000	0.80357	0.567000	0.35839	2.806000	0.47947	2.488000	0.83962	0.561000	0.74099	GCC		0.567	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428		14	33	1	0	1.3612e-06	1	1.52333e-06	14	33				
SLC39A10	57181	broad.mit.edu	37	2	196578254	196578254	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:196578254G>A	ENST00000409086.3	+	6	1948	c.1673G>A	c.(1672-1674)tGg>tAg	p.W558*	SLC39A10_ENST00000359634.5_Nonsense_Mutation_p.W558*|SLC39A10_ENST00000541054.1_Nonsense_Mutation_p.W108*	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	558					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			GATTCTGACTGGCTTCAACTC	0.323																																						ENST00000409086.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34						c.(1672-1674)tGg>tAg		solute carrier family 39 (zinc transporter), member 10							74.0	71.0	72.0					2																	196578254		2203	4300	6503	SO:0001587	stop_gained	57181				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr2:196578254G>A		CCDS33353.1	2q33.1	2013-05-22			ENSG00000196950	ENSG00000196950		"""Solute carriers"""	20861	protein-coding gene	gene with protein product		608733	"""solute carrier family 39 (metal ion transporter), member 10"""			12659941	Standard	NM_020342		Approved	KIAA1265, FLJ90515, DKFZp564L2123	uc002utg.4	Q9ULF5	OTTHUMG00000154380	ENST00000409086.3:c.1673G>A	2.37:g.196578254G>A	ENSP00000386766:p.Trp558*					SLC39A10_ENST00000359634.5_Nonsense_Mutation_p.W558*|SLC39A10_ENST00000541054.1_Nonsense_Mutation_p.W108*	p.W558*	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.221)		6	1948	+			558					A8K5C6|B4DGU0|Q3MJA4|Q68CR5|Q6DKH6|Q9Y3Z1	Nonsense_Mutation	SNP	ENST00000409086.3	37	c.1673G>A	CCDS33353.1	.	.	.	.	.	.	.	.	.	.	G	40	8.268262	0.98735	.	.	ENSG00000196950	ENST00000409086;ENST00000359634;ENST00000541054	.	.	.	5.87	5.87	0.94306	.	0.109437	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	20.2245	0.98337	0.0:0.0:1.0:0.0	.	.	.	.	X	558;558;108	.	ENSP00000352655:W558X	W	+	2	0	SLC39A10	196286499	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.908000	0.92640	2.770000	0.95276	0.650000	0.86243	TGG		0.323	SLC39A10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335186.1	XM_047707		16	20	0	0	0	1	0	16	20				
SPTBN4	57731	broad.mit.edu	37	19	40978616	40978616	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:40978616C>T	ENST00000352632.3	+	2	174	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W	SPTBN4_ENST00000344104.3_Missense_Mutation_p.R30W|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R30W|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R30W|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R30W			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	30	Actin-binding.				actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GAGTCCGGATCGGGGCTGGGA	0.672																																						ENST00000352632.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(88-90)Cgg>Tgg		spectrin, beta, non-erythrocytic 4							33.0	27.0	29.0					19																	40978616		2202	4300	6502	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:40978616C>T	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.88C>T	19.37:g.40978616C>T	ENSP00000263373:p.Arg30Trp					SPTBN4_ENST00000595535.1_Missense_Mutation_p.R30W|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R30W|SPTBN4_ENST00000344104.3_Missense_Mutation_p.R30W|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R30W	p.R30W			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		2	174	+			30			Actin-binding.		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.88C>T	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337522	0.81911	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.78707	-1.12;-1.13;-1.2	6.17	5.12	0.69794	.	0.100787	0.40554	U	0.001080	T	0.77425	0.4128	N	0.14661	0.345	0.80722	D	1	D;B	0.89917	1.0;0.021	D;B	0.74023	0.982;0.006	T	0.78663	-0.2116	10	0.41790	T	0.15	.	12.8128	0.57649	0.1633:0.8367:0.0:0.0	.	30;30	Q9H254;Q71S06	SPTN4_HUMAN;.	W	30	ENSP00000263373:R30W;ENSP00000340345:R30W;ENSP00000340741:R30W	ENSP00000340345:R30W	R	+	1	2	SPTBN4	45670456	0.987000	0.35691	0.961000	0.40146	0.990000	0.78478	1.493000	0.35605	1.584000	0.49913	0.655000	0.94253	CGG		0.672	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			5	16	0	0	0	1	0	5	16				
ACTBL2	345651	broad.mit.edu	37	5	56777903	56777903	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr5:56777903C>T	ENST00000423391.1	-	1	733	c.632G>A	c.(631-633)cGa>cAa	p.R211Q	CTD-2023N9.1_ENST00000506106.1_RNA|AC025470.1_ENST00000584598.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	211						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		TTTGACATCTCGCACAATCTC	0.552																																						ENST00000423391.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28						c.(631-633)cGa>cAa		actin, beta-like 2							104.0	87.0	93.0					5																	56777903		2203	4300	6503	SO:0001583	missense	345651					cytoplasm|cytoskeleton	ATP binding	g.chr5:56777903C>T		CCDS34163.1	5q11.2	2014-08-08			ENSG00000169067	ENSG00000169067			17780	protein-coding gene	gene with protein product		614835					Standard	NM_001017992		Approved	DKFZp686D0972	uc003jrm.3	Q562R1	OTTHUMG00000162330	ENST00000423391.1:c.632G>A	5.37:g.56777903C>T	ENSP00000416706:p.Arg211Gln					CTD-2023N9.1_ENST00000506106.1_RNA	p.R211Q	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)	1	733	-		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)	211					B2RPJ1|Q562R2|Q562S9|Q562X8	Missense_Mutation	SNP	ENST00000423391.1	37	c.632G>A	CCDS34163.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.660329	0.67586	.	.	ENSG00000169067	ENST00000423391	T	0.08634	3.07	4.91	4.91	0.64330	.	0.000000	0.56097	D	0.000021	T	0.39200	0.1069	M	0.93550	3.43	0.51012	D	0.999905	D	0.89917	1.0	D	0.79784	0.993	T	0.52578	-0.8557	10	0.87932	D	0	.	15.6308	0.76906	0.0:1.0:0.0:0.0	.	211	Q562R1	ACTBL_HUMAN	Q	211	ENSP00000416706:R211Q	ENSP00000416706:R211Q	R	-	2	0	ACTBL2	56813660	1.000000	0.71417	0.976000	0.42696	0.982000	0.71751	7.645000	0.83430	2.544000	0.85801	0.655000	0.94253	CGA		0.552	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368579.1	NM_001017992		26	74	0	0	0	1	0	26	74				
ZNF595	152687	broad.mit.edu	37	4	59331	59331	+	Silent	SNP	A	A	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:59331A>T	ENST00000509152.2	+	2	197	c.12A>T	c.(10-12)gtA>gtT	p.V4V	ZNF595_ENST00000339368.6_3'UTR|ZNF595_ENST00000526473.2_Silent_p.V4V			Q8IYB9	ZN595_HUMAN	zinc finger protein 595	4	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		AGGAACTCGTAACATTCAGGG	0.408																																						ENST00000509152.2																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20						c.(10-12)gtA>gtT		zinc finger protein 595							346.0	371.0	363.0					4																	59331		2203	4300	6503	SO:0001819	synonymous_variant	152687							g.chr4:59331A>T	BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"""Zinc fingers, C2H2-type"", ""-"""	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000509152.2:c.12A>T	4.37:g.59331A>T						ZNF595_ENST00000526473.2_Silent_p.V4V|ZNF595_ENST00000339368.6_3'UTR	p.V4V						Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)	2	197	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)							Silent	SNP	ENST00000509152.2	37	c.12A>T																																																																																					0.408	ZNF595-004	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000357817.2	NM_182524		18	438	0	0	0	1	0	18	438				
NLRP12	91662	broad.mit.edu	37	19	54304538	54304538	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:54304538C>A	ENST00000324134.6	-	7	2867	c.2699G>T	c.(2698-2700)gGg>gTg	p.G900V	NLRP12_ENST00000391773.1_Missense_Mutation_p.G901V|NLRP12_ENST00000351894.4_Intron|NLRP12_ENST00000391775.3_Missense_Mutation_p.G900V|NLRP12_ENST00000535162.1_Missense_Mutation_p.G900V|NLRP12_ENST00000345770.5_Missense_Mutation_p.G901V|NLRP12_ENST00000391772.1_Intron|NLRP12_ENST00000354278.3_Intron	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	900					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CAGCAGCACCCCGAGGTCCCC	0.622																																						ENST00000324134.6																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(2698-2700)gGg>gTg		NLR family, pyrin domain containing 12							66.0	60.0	62.0					19																	54304538		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54304538C>A	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.2699G>T	19.37:g.54304538C>A	ENSP00000319377:p.Gly900Val					NLRP12_ENST00000351894.4_Intron|NLRP12_ENST00000345770.5_Missense_Mutation_p.G901V|NLRP12_ENST00000354278.3_Intron|NLRP12_ENST00000391772.1_Intron|NLRP12_ENST00000391775.3_Missense_Mutation_p.G900V|NLRP12_ENST00000535162.1_Missense_Mutation_p.G900V|NLRP12_ENST00000391773.1_Missense_Mutation_p.G901V	p.G900V	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	7	2867	-	Ovarian(34;0.19)		900					A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.2699G>T	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	C	9.769	1.172068	0.21704	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000358661;ENST00000391775;ENST00000391773;ENST00000345770	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	5.22	1.82	0.25136	.	0.000000	0.40728	N	0.001024	T	0.77054	0.4074	H	0.94183	3.505	0.20074	N	0.999931	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.66143	-0.5997	10	0.87932	D	0	.	3.8812	0.09079	0.3009:0.475:0.1454:0.0788	.	183;900;900;900	P59046-5;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	V	900;900;183;900;901;901	ENSP00000319377:G900V;ENSP00000438030:G900V;ENSP00000375655:G900V;ENSP00000375653:G901V	ENSP00000319377:G900V	G	-	2	0	NLRP12	58996350	0.114000	0.22134	0.004000	0.12327	0.000000	0.00434	2.156000	0.42310	0.298000	0.22638	-0.336000	0.08194	GGG		0.622	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		10	33	1	0	7.48243e-07	1	8.45758e-07	10	33				
PCDH15	65217	broad.mit.edu	37	10	55587200	55587200	+	Silent	SNP	C	C	T	rs12246234		TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr10:55587200C>T	ENST00000320301.6	-	32	4714	c.4320G>A	c.(4318-4320)ccG>ccA	p.P1440P	PCDH15_ENST00000395433.1_Silent_p.P1415P|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395438.1_Silent_p.P1440P|PCDH15_ENST00000395445.1_Silent_p.P1447P|PCDH15_ENST00000395432.2_Silent_p.P1400P|PCDH15_ENST00000409834.1_Silent_p.P1051P|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000437009.1_Silent_p.P1369P|PCDH15_ENST00000361849.3_Silent_p.P1440P|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395430.1_Silent_p.P1437P|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Silent_p.P1442P|PCDH15_ENST00000373965.2_Silent_p.P1447P	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1440	Poly-Pro.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTggcggaggcggcggcggcg	0.572										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(4339-4341)ccG>ccA		protocadherin-related 15		C	,,,,,,,,,,,	3,4403	6.2+/-15.9	0,3,2200	34.0	41.0	39.0		4335,4320,4107,4311,4200,4254,4356,4320,4335,4320,4245,4320	-11.3	0.0	10	dbSNP_120	39	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PCDH15	NM_001142763.1,NM_001142764.1,NM_001142765.1,NM_001142766.1,NM_001142767.1,NM_001142768.1,NM_001142769.1,NM_001142770.1,NM_001142771.1,NM_001142772.1,NM_001142773.1,NM_033056.3	,,,,,,,,,,,	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	,,,,,,,,,,,	1445/1963,1440/1958,1369/1887,1437/1953,1400/1916,1418/1936,1452/1791,1440/1540,1445/1683,1440/1678,1415/1933,1440/1956	55587200	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55587200C>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4320G>A	10.37:g.55587200C>T		HNSCC(58;0.16)				PCDH15_ENST00000395433.1_Silent_p.P1415P|PCDH15_ENST00000361849.3_Silent_p.P1440P|PCDH15_ENST00000414778.1_Silent_p.P1442P|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Silent_p.P1051P|PCDH15_ENST00000437009.1_Silent_p.P1369P|PCDH15_ENST00000395430.1_Silent_p.P1437P|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395438.1_Silent_p.P1440P|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000320301.6_Silent_p.P1440P|PCDH15_ENST00000395445.1_Silent_p.P1447P|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395432.2_Silent_p.P1400P	p.P1447P	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			33	4735	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1440					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	c.4341G>A	CCDS7248.1																																																																																				0.572	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		4	75	0	0	0	1	0	4	75				
NFE2L3	9603	broad.mit.edu	37	7	26225198	26225198	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:26225198G>T	ENST00000056233.3	+	4	2139	c.1880G>T	c.(1879-1881)tGt>tTt	p.C627F		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	627	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						CAAGCACAATGTAACAAAGCT	0.343																																						ENST00000056233.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						c.(1879-1881)tGt>tTt		nuclear factor, erythroid 2-like 3							85.0	81.0	82.0					7																	26225198		2203	4300	6503	SO:0001583	missense	9603				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr7:26225198G>T	AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"""basic leucine zipper proteins"""	7783	protein-coding gene	gene with protein product		604135	"""nuclear factor (erythroid-derived 2)-like 3"""			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.1880G>T	7.37:g.26225198G>T	ENSP00000056233:p.Cys627Phe						p.C627F	NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN			4	2139	+			627			Leucine-zipper.		Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Missense_Mutation	SNP	ENST00000056233.3	37	c.1880G>T	CCDS5396.1	.	.	.	.	.	.	.	.	.	.	G	0.023	-1.401492	0.01165	.	.	ENSG00000050344	ENST00000056233;ENST00000398175	D	0.91068	-2.78	5.71	-1.58	0.08479	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.379959	0.32028	N	0.006697	T	0.68284	0.2984	N	0.03050	-0.425	0.09310	N	1	B	0.12630	0.006	B	0.12156	0.007	T	0.61267	-0.7097	10	0.07644	T	0.81	0.2548	4.4851	0.11785	0.3103:0.0:0.461:0.2287	.	627	Q9Y4A8	NF2L3_HUMAN	F	627;332	ENSP00000056233:C627F	ENSP00000056233:C627F	C	+	2	0	NFE2L3	26191723	0.004000	0.15560	0.666000	0.29783	0.819000	0.46315	-0.078000	0.11375	-0.321000	0.08627	0.591000	0.81541	TGT		0.343	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1			29	74	1	0	5.61819e-17	1	7.86895e-17	29	74				
HOXD10	3236	broad.mit.edu	37	2	176981826	176981826	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:176981826C>G	ENST00000249501.4	+	1	520	c.265C>G	c.(265-267)Cga>Gga	p.R89G	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	89					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|neuromuscular process (GO:0050905)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		CAGATCTTGTCGAATAGAGCA	0.433																																						ENST00000249501.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17						c.(265-267)Cga>Gga		homeobox D10							104.0	101.0	102.0					2																	176981826		2203	4300	6503	SO:0001583	missense	3236					nucleus	sequence-specific DNA binding	g.chr2:176981826C>G		CCDS2266.1	2q31.1	2014-09-17	2005-12-22		ENSG00000128710	ENSG00000128710		"""Homeoboxes / ANTP class : HOXL subclass"""	5133	protein-coding gene	gene with protein product		142984	"""homeo box D10"""	HOX4, HOX4D		1973146, 1358459	Standard	NM_002148		Approved		uc002ukj.3	P28358	OTTHUMG00000132511	ENST00000249501.4:c.265C>G	2.37:g.176981826C>G	ENSP00000249501:p.Arg89Gly					HOXD10_ENST00000490088.2_Intron	p.R89G	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)	1	520	+			89					Q6NT10	Missense_Mutation	SNP	ENST00000249501.4	37	c.265C>G	CCDS2266.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.228841	0.39399	.	.	ENSG00000128710	ENST00000249501	T	0.33216	1.42	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.42921	0.1224	M	0.88241	2.94	0.58432	D	0.999995	P	0.42827	0.791	B	0.39068	0.289	T	0.54490	-0.8286	10	0.66056	D	0.02	.	14.3486	0.66685	0.1482:0.8518:0.0:0.0	.	89	P28358	HXD10_HUMAN	G	89	ENSP00000249501:R89G	ENSP00000249501:R89G	R	+	1	2	HOXD10	176690072	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.586000	0.53950	2.699000	0.92147	0.655000	0.94253	CGA		0.433	HOXD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255692.2			32	72	0	0	0	1	0	32	72				
SUGCT	79783	broad.mit.edu	37	7	40277269	40277269	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:40277269G>T	ENST00000335693.4	+	7	564	c.541G>T	c.(541-543)Ggt>Tgt	p.G181C	C7orf10_ENST00000309930.5_Missense_Mutation_p.G181C|C7orf10_ENST00000401647.2_Missense_Mutation_p.G181C	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		181					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						TCAGCGAGCTGGTTATGATGC	0.423																																						ENST00000309930.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						c.(541-543)Ggt>Tgt		chromosome 7 open reading frame 10							188.0	179.0	182.0					7																	40277269		1971	4159	6130	SO:0001583	missense	79783						transferase activity	g.chr7:40277269G>T																												ENST00000335693.4:c.541G>T	7.37:g.40277269G>T	ENSP00000338475:p.Gly181Cys					C7orf10_ENST00000335693.4_Missense_Mutation_p.G181C|C7orf10_ENST00000401647.2_Missense_Mutation_p.G181C	p.G181C	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN			7	565	+			181					A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Missense_Mutation	SNP	ENST00000335693.4	37	c.541G>T	CCDS55105.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.270549	0.80469	.	.	ENSG00000175600	ENST00000309930;ENST00000401647;ENST00000335693	D;T;T	0.90444	-2.67;0.07;0.07	5.35	5.35	0.76521	CoA-transferase family III domain (2);	0.000000	0.85682	D	0.000000	D	0.96626	0.8899	M	0.92880	3.355	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97261	0.9904	10	0.87932	D	0	-13.269	19.0288	0.92946	0.0:0.0:1.0:0.0	.	181;181;144	Q4KMW8;Q9HAC7;Q9HAC7-2	.;CG010_HUMAN;.	C	181	ENSP00000312054:G181C;ENSP00000385222:G181C;ENSP00000338475:G181C	ENSP00000312054:G181C	G	+	1	0	C7orf10	40243794	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.243000	0.72384	2.675000	0.91044	0.655000	0.94253	GGT		0.423	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338388.1			22	54	1	0	1.10513e-12	1	1.45311e-12	22	54				
NAV3	89795	broad.mit.edu	37	12	78522567	78522567	+	Silent	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr12:78522567C>T	ENST00000397909.2	+	18	4535	c.4362C>T	c.(4360-4362)gaC>gaT	p.D1454D	NAV3_ENST00000536525.2_Silent_p.D1454D|NAV3_ENST00000228327.6_Silent_p.D1454D|NAV3_ENST00000266692.7_Silent_p.D1277D			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1454	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GGCTTCAGGACACTGGCAACC	0.463										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(4360-4362)gaC>gaT		neuron navigator 3							127.0	125.0	126.0					12																	78522567		1960	4149	6109	SO:0001819	synonymous_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78522567C>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.4362C>T	12.37:g.78522567C>T		HNSCC(70;0.22)				NAV3_ENST00000536525.2_Silent_p.D1454D|NAV3_ENST00000228327.6_Silent_p.D1454D|NAV3_ENST00000266692.7_Silent_p.D1277D	p.D1454D			Q8IVL0	NAV3_HUMAN			18	4535	+			1454			Ser-rich.		Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	37	c.4362C>T		.	.	.	.	.	.	.	.	.	.	C	9.096	1.002880	0.19121	.	.	ENSG00000067798	ENST00000552895	.	.	.	5.81	-7.45	0.01374	.	.	.	.	.	T	0.66307	0.2776	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71006	-0.4717	4	.	.	.	-20.3795	19.203	0.93719	0.0:0.6681:0.0:0.3319	.	.	.	.	Y	349	.	.	H	+	1	0	NAV3	77046698	0.702000	0.27816	0.669000	0.29828	0.991000	0.79684	-0.120000	0.10660	-1.236000	0.02542	0.460000	0.39030	CAC		0.463	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		23	40	0	0	0	1	0	23	40				
HECW2	57520	broad.mit.edu	37	2	197183378	197183378	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:197183378C>T	ENST00000260983.3	-	9	2418	c.2236G>A	c.(2236-2238)Gct>Act	p.A746T	HECW2_ENST00000409111.1_Missense_Mutation_p.A390T	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	746	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GCAGCTGCAGCTCCCTCCAGG	0.682																																						ENST00000260983.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(2236-2238)Gct>Act		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							37.0	37.0	37.0					2																	197183378		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197183378C>T	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.2236G>A	2.37:g.197183378C>T	ENSP00000260983:p.Ala746Thr					HECW2_ENST00000409111.1_Missense_Mutation_p.A390T	p.A746T	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN			9	2418	-			746			Interaction with TP73.		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.2236G>A	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	4.524	0.097304	0.08681	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.33438	1.41;1.42	4.06	4.06	0.47325	.	1.549980	0.03200	N	0.174643	T	0.36110	0.0955	N	0.14661	0.345	0.30385	N	0.781601	D	0.63880	0.993	D	0.68192	0.956	T	0.41016	-0.9532	10	0.02654	T	1	.	12.0283	0.53384	0.0:1.0:0.0:0.0	.	746	Q9P2P5	HECW2_HUMAN	T	390;746	ENSP00000386775:A390T;ENSP00000260983:A746T	ENSP00000260983:A746T	A	-	1	0	HECW2	196891623	1.000000	0.71417	0.997000	0.53966	0.482000	0.33219	2.941000	0.49011	2.558000	0.86282	0.462000	0.41574	GCT		0.682	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		9	36	0	0	0	1	0	9	36				
ZNF700	90592	broad.mit.edu	37	19	12060260	12060260	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:12060260A>T	ENST00000254321.5	+	4	1564	c.1421A>T	c.(1420-1422)tAt>tTt	p.Y474F	ZNF763_ENST00000591944.1_Intron|ZNF700_ENST00000482090.1_Missense_Mutation_p.Y456F|ZNF763_ENST00000538752.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000590798.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	474					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						GAGAAACCCTATGAATGTAAG	0.433																																						ENST00000482090.1																		ZNF700/MAST1_ENST00000251472(2)	0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						c.(1366-1368)tAt>tTt		zinc finger protein 700							74.0	75.0	75.0					19																	12060260		2203	4300	6503	SO:0001583	missense	90592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12060260A>T	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1421A>T	19.37:g.12060260A>T	ENSP00000254321:p.Tyr474Phe					CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000590798.1_Intron|ZNF700_ENST00000254321.5_Missense_Mutation_p.Y474F|ZNF763_ENST00000538752.1_Intron	p.Y456F			Q9H0M5	ZN700_HUMAN			3	1785	+			474					B9EGU4	Missense_Mutation	SNP	ENST00000254321.5	37	c.1367A>T	CCDS32915.1	.	.	.	.	.	.	.	.	.	.	a	12.21	1.868265	0.32977	.	.	ENSG00000196757	ENST00000254321	T	0.18338	2.22	0.606	0.606	0.17559	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19287	0.0463	N	0.16233	0.39	0.21416	N	0.999692	D	0.67145	0.996	D	0.79784	0.993	T	0.13629	-1.0502	9	0.44086	T	0.13	.	3.7834	0.08689	0.6708:0.0:0.0:0.3291	.	474	Q9H0M5	ZN700_HUMAN	F	474	ENSP00000254321:Y474F	ENSP00000254321:Y474F	Y	+	2	0	ZNF700	11921260	0.000000	0.05858	0.453000	0.27007	0.223000	0.24884	0.013000	0.13310	0.485000	0.27652	0.164000	0.16699	TAT		0.433	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566		13	51	0	0	0	1	0	13	51				
RUNX1T1	862	broad.mit.edu	37	8	92998530	92998530	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr8:92998530C>A	ENST00000523629.1	-	9	1555	c.1101G>T	c.(1099-1101)atG>atT	p.M367I	RUNX1T1_ENST00000436581.2_Missense_Mutation_p.M378I|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.M367I|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.M330I|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.M340I|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.M340I|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.M330I|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.M330I	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)	367	Important for oligomerization.				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)			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)			TTTTTTCTACCATGTCCATTA	0.438																																						ENST00000523629.1																			0				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.(1099-1101)atG>atT		runt-related transcription factor 1; translocated to, 1 (cyclin D-related)							122.0	120.0	121.0					8																	92998530		2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:92998530C>A	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.1101G>T	8.37:g.92998530C>A	ENSP00000428543:p.Met367Ile					RUNX1T1_ENST00000518844.1_Missense_Mutation_p.M340I|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.M340I|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.M367I|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.M378I|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.M330I|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.M330I|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.M330I	p.M367I	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)		9	1555	-			367			Important for oligomerization.		B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.1101G>T	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	C	33	5.272732	0.95429	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31	5.67	5.67	0.87782	NHR2-like (1);	0.000000	0.85682	D	0.000000	T	0.78444	0.4284	M	0.77820	2.39	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.995	D;D;D	0.91635	0.999;0.998;0.995	T	0.80158	-0.1499	10	0.87932	D	0	-19.4078	19.773	0.96379	0.0:1.0:0.0:0.0	.	378;367;340	E7EPN4;Q06455;Q06455-2	.;MTG8_HUMAN;.	I	367;340;367;330;330;330;378;340	ENSP00000428543:M367I;ENSP00000379520:M340I;ENSP00000265814:M367I;ENSP00000353504:M330I;ENSP00000390137:M330I;ENSP00000428742:M330I;ENSP00000402257:M378I;ENSP00000430728:M340I	ENSP00000265814:M367I	M	-	3	0	RUNX1T1	93067706	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.677000	0.91161	0.655000	0.94253	ATG		0.438	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		49	80	1	0	1.42923e-14	1	1.94151e-14	49	80				
NCR2	9436	broad.mit.edu	37	6	41303865	41303865	+	Silent	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:41303865G>A	ENST00000373089.5	+	2	181	c.93G>A	c.(91-93)gtG>gtA	p.V31V	NCR2_ENST00000373086.3_Silent_p.V31V|NCR2_ENST00000373083.4_Silent_p.V31V	NM_004828.3	NP_004819.2	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	31	Ig-like.				cellular defense response (GO:0006968)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					TTCAAAGTGTGGCAGGGCAGA	0.557																																						ENST00000373083.4																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14						c.(91-93)gtG>gtA		natural cytotoxicity triggering receptor 2							59.0	61.0	60.0					6																	41303865		2203	4300	6503	SO:0001819	synonymous_variant	9436				cellular defense response	integral to plasma membrane	transmembrane receptor activity	g.chr6:41303865G>A	AJ225109	CCDS4855.1, CCDS56428.1, CCDS56429.1	6p21.1	2013-01-11	2002-11-13	2002-11-15	ENSG00000096264	ENSG00000096264		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	6732	protein-coding gene	gene with protein product		604531	"""lymphocyte antigen 95 (activating NK-receptor; NK-p44)"""	LY95		10049942	Standard	NM_004828		Approved	NK-p44, CD336	uc003oqh.2	O95944	OTTHUMG00000014678	ENST00000373089.5:c.93G>A	6.37:g.41303865G>A						NCR2_ENST00000373086.3_Silent_p.V31V|NCR2_ENST00000373089.5_Silent_p.V31V	p.V31V	NM_001199510.1	NP_001186439.1	O95944	NCTR2_HUMAN			2	315	+	Ovarian(28;0.0327)|Colorectal(47;0.196)		31			Ig-like.		Q9H562|Q9H563|Q9H564|Q9UMT1|Q9UMT2	Silent	SNP	ENST00000373089.5	37	c.93G>A	CCDS4855.1																																																																																				0.557	NCR2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040511.3			12	45	0	0	0	1	0	12	45				
CHAT	1103	broad.mit.edu	37	10	50872936	50872936	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr10:50872936C>A	ENST00000337653.2	+	15	2244	c.2091C>A	c.(2089-2091)caC>caA	p.H697Q	CHAT_ENST00000339797.1_Missense_Mutation_p.H579Q|CHAT_ENST00000395562.2_Missense_Mutation_p.H615Q|CHAT_ENST00000455728.2_Intron|CHAT_ENST00000351556.3_Missense_Mutation_p.H579Q|CHAT_ENST00000395559.2_Missense_Mutation_p.H579Q	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	697					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	CTAGCTTTCACAGCTGCAAAG	0.512																																						ENST00000395562.2																			0				central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56						c.(1843-1845)caC>caA		choline O-acetyltransferase	Choline(DB00122)						199.0	184.0	189.0					10																	50872936		2203	4300	6503	SO:0001583	missense	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50872936C>A	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.2091C>A	10.37:g.50872936C>A	ENSP00000337103:p.His697Gln					CHAT_ENST00000337653.2_Missense_Mutation_p.H697Q|CHAT_ENST00000395559.2_Missense_Mutation_p.H579Q|CHAT_ENST00000339797.1_Missense_Mutation_p.H579Q|CHAT_ENST00000351556.3_Missense_Mutation_p.H579Q|CHAT_ENST00000455728.2_Intron	p.H615Q	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	16	2314	+		all_neural(218;0.107)	697					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	ENST00000337653.2	37	c.1845C>A	CCDS7232.1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.401343	0.25291	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562	D;D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44;-2.44	5.76	-1.32	0.09201	.	0.146161	0.64402	D	0.000010	D	0.85869	0.5797	M	0.74389	2.26	0.22933	N	0.998543	P	0.41232	0.743	P	0.44359	0.447	T	0.76895	-0.2790	10	0.44086	T	0.13	-29.8252	3.2451	0.06794	0.1295:0.3624:0.0883:0.4198	.	697	P28329	CLAT_HUMAN	Q	579;579;579;697;615	ENSP00000343486:H579Q;ENSP00000345878:H579Q;ENSP00000378926:H579Q;ENSP00000337103:H697Q;ENSP00000378929:H615Q	ENSP00000337103:H697Q	H	+	3	2	CHAT	50542942	0.001000	0.12720	0.200000	0.23457	0.995000	0.86356	-1.396000	0.02513	-0.124000	0.11724	0.655000	0.94253	CAC		0.512	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		40	141	1	0	6.2361e-21	1	8.84429e-21	40	141				
EPB41L4B	54566	broad.mit.edu	37	9	111970306	111970306	+	Silent	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr9:111970306C>T	ENST00000374566.3	-	18	2293	c.1776G>A	c.(1774-1776)gaG>gaA	p.E592E		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	592					actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAAGAGTTTTCTCCGAGACTT	0.413																																						ENST00000374566.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1774-1776)gaG>gaA		erythrocyte membrane protein band 4.1 like 4B							99.0	92.0	94.0					9																	111970306		1831	4100	5931	SO:0001819	synonymous_variant	54566					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	g.chr9:111970306C>T	AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.1776G>A	9.37:g.111970306C>T							p.E592E	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN			18	2293	-			592					Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Silent	SNP	ENST00000374566.3	37	c.1776G>A	CCDS43859.1																																																																																				0.413	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	NM_018424		21	53	0	0	0	1	0	21	53				
IFI44L	10964	broad.mit.edu	37	1	79093945	79093945	+	Silent	SNP	T	T	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:79093945T>C	ENST00000370751.5	+	2	524	c.345T>C	c.(343-345)cgT>cgC	p.R115R	IFI44L_ENST00000342282.3_Intron|IFI44L_ENST00000476521.1_Intron	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	115					defense response to virus (GO:0051607)|immune response (GO:0006955)	cytoplasm (GO:0005737)				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						TGGTGTGTCGTTTATCGAAAA	0.313																																						ENST00000370751.4																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(343-345)cgT>cgC		interferon-induced protein 44-like							43.0	44.0	43.0					1																	79093945		2203	4296	6499	SO:0001819	synonymous_variant	10964					cytoplasm		g.chr1:79093945T>C	AB000115	CCDS687.2	1p22.3	2008-07-18	2004-11-12	2004-11-12	ENSG00000137959	ENSG00000137959			17817	protein-coding gene	gene with protein product		613975	"""chromosome 1 open reading frame 29"""	C1orf29			Standard	NM_006820		Approved	GS3686	uc010oro.2	Q53G44	OTTHUMG00000009724	ENST00000370751.5:c.345T>C	1.37:g.79093945T>C						IFI44L_ENST00000476521.1_Intron|IFI44L_ENST00000342282.3_Intron	p.R115R	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN			2	524	+			115					Q86TE1|Q96B64|Q99984	Silent	SNP	ENST00000370751.5	37	c.345T>C	CCDS687.2																																																																																				0.313	IFI44L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026834.3	NM_006820		12	30	0	0	0	1	0	12	30				
ENPP3	5169	broad.mit.edu	37	6	132059244	132059244	+	Silent	SNP	T	T	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:132059244T>C	ENST00000414305.1	+	24	2569	c.2241T>C	c.(2239-2241)agT>agC	p.S747S	ENPP3_ENST00000358229.5_3'UTR|ENPP3_ENST00000357639.3_Silent_p.S747S			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	747	Nuclease.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		ATGTGGTTAGTGGACCAATAT	0.313																																						ENST00000414305.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(2239-2241)agT>agC		ectonucleotide pyrophosphatase/phosphodiesterase 3							118.0	129.0	125.0					6																	132059244		2203	4297	6500	SO:0001819	synonymous_variant	5169				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	g.chr6:132059244T>C	AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"""CD molecules"""	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.2241T>C	6.37:g.132059244T>C						ENPP3_ENST00000358229.5_3'UTR|ENPP3_ENST00000357639.3_Silent_p.S747S	p.S747S			O14638	ENPP3_HUMAN		GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)	24	2569	+	Breast(56;0.0753)		747			Nuclease.		Q5JTL3	Silent	SNP	ENST00000414305.1	37	c.2241T>C	CCDS5148.1																																																																																				0.313	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2			20	50	0	0	0	1	0	20	50				
ZFP64	55734	broad.mit.edu	37	20	50776766	50776766	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr20:50776766T>C	ENST00000216923.4	-	5	1008	c.659A>G	c.(658-660)aAg>aGg	p.K220R	ZFP64_ENST00000477786.1_5'UTR|ZFP64_ENST00000371518.2_Missense_Mutation_p.K220R|ZFP64_ENST00000361387.2_Missense_Mutation_p.K220R|ZFP64_ENST00000371515.4_Missense_Mutation_p.K218R|ZFP64_ENST00000346617.4_Missense_Mutation_p.K166R	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	220					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CCTCAGGTGCTTGTTGAGGCT	0.597																																						ENST00000216923.4																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(658-660)aAg>aGg		ZFP64 zinc finger protein							135.0	132.0	133.0					20																	50776766		2203	4300	6503	SO:0001583	missense	55734				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50776766T>C	AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.659A>G	20.37:g.50776766T>C	ENSP00000216923:p.Lys220Arg					ZFP64_ENST00000477786.1_5'UTR|ZFP64_ENST00000371515.4_Missense_Mutation_p.K218R|ZFP64_ENST00000371518.2_Missense_Mutation_p.K220R|ZFP64_ENST00000346617.4_Missense_Mutation_p.K166R|ZFP64_ENST00000361387.2_Missense_Mutation_p.K220R	p.K220R	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN			5	1008	-			220					Q9NTS7|Q9NVH4	Missense_Mutation	SNP	ENST00000216923.4	37	c.659A>G	CCDS13440.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.741365	0.89573	.	.	ENSG00000020256	ENST00000371518;ENST00000361387;ENST00000216923;ENST00000346617;ENST00000371515;ENST00000546083;ENST00000371516	T;T;T;T;T	0.13657	2.57;2.57;2.57;2.57;2.57	5.79	5.79	0.91817	Zinc finger, C2H2-like (2);Zinc finger, C2H2 (4);Zinc finger, C2H2-type/integrase, DNA-binding (2);	0.000000	0.56097	D	0.000022	T	0.15998	0.0385	N	0.02736	-0.51	0.50467	D	0.999873	D;D;D;D	0.76494	0.998;0.999;0.999;0.998	D;D;D;D	0.87578	0.997;0.998;0.998;0.965	T	0.49862	-0.8894	10	0.23302	T	0.38	-17.6899	16.1303	0.81428	0.0:0.0:0.0:1.0	.	166;218;220;220	Q9NPA5-2;Q5JWM1;Q9NPA5;Q9NTW7	.;.;ZF64A_HUMAN;ZF64B_HUMAN	R	220;220;220;166;218;62;373	ENSP00000360573:K220R;ENSP00000355179:K220R;ENSP00000216923:K220R;ENSP00000344615:K166R;ENSP00000360570:K218R	ENSP00000216923:K220R	K	-	2	0	ZFP64	50210173	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.113000	0.64640	2.218000	0.71995	0.533000	0.62120	AAG		0.597	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	NM_018197		31	102	0	0	0	1	0	31	102				
OR13G1	441933	broad.mit.edu	37	1	247835845	247835845	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:247835845C>A	ENST00000359688.2	-	1	520	c.499G>T	c.(499-501)Ggg>Tgg	p.G167W	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GTGTTTGGCCCACAGAAAGTC	0.483																																						ENST00000359688.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35						c.(499-501)Ggg>Tgg		olfactory receptor, family 13, subfamily G, member 1							99.0	85.0	90.0					1																	247835845		2203	4300	6503	SO:0001583	missense	441933				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247835845C>A	AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437		"""GPCR / Class A : Olfactory receptors"""	14999	protein-coding gene	gene with protein product		611677					Standard	NM_001005487		Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.499G>T	1.37:g.247835845C>A	ENSP00000352717:p.Gly167Trp					RP11-634B7.4_ENST00000449298.1_RNA	p.G167W	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	520	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		167					B2RN80|Q5T2T2|Q6IF86	Missense_Mutation	SNP	ENST00000359688.2	37	c.499G>T	CCDS31094.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.107687	0.37242	.	.	ENSG00000197437	ENST00000359688	T	0.39406	1.08	4.2	2.3	0.28687	GPCR, rhodopsin-like superfamily (1);	0.157279	0.29737	N	0.011335	T	0.69106	0.3074	H	0.95470	3.675	0.26960	N	0.965832	D	0.89917	1.0	D	0.91635	0.999	T	0.61608	-0.7028	10	0.87932	D	0	-12.5196	6.5096	0.22214	0.0:0.5476:0.3534:0.099	.	167	Q8NGZ3	O13G1_HUMAN	W	167	ENSP00000352717:G167W	ENSP00000352717:G167W	G	-	1	0	OR13G1	245902468	0.009000	0.17119	0.567000	0.28434	0.572000	0.35998	0.553000	0.23391	0.515000	0.28320	0.563000	0.77884	GGG		0.483	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096869.1	NM_001005487		10	51	1	0	2.17888e-05	1	2.37361e-05	10	51				
EGLN3	112399	broad.mit.edu	37	14	34419578	34419578	+	Intron	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr14:34419578G>T	ENST00000250457.3	-	1	686				EGLN3_ENST00000553215.1_Intron|EGLN3_ENST00000547327.2_Silent_p.A127A	NM_022073.3	NP_071356.1	Q9H6Z9	EGLN3_HUMAN	egl-9 family hypoxia-inducible factor 3						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|protein hydroxylation (GO:0018126)|regulation of cell proliferation (GO:0042127)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|peptidyl-proline 4-dioxygenase activity (GO:0031545)			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|upper_aerodigestive_tract(1)	15	Breast(36;0.0303)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155)	GBM - Glioblastoma multiforme(112;0.0118)	Vitamin C(DB00126)	GAGCAGCTGCGGCAGGGCGCC	0.607																																					Esophageal Squamous(161;245 1904 13895 22565 30076)	ENST00000547327.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|upper_aerodigestive_tract(1)	15						c.(379-381)gcC>gcA		egl-9 family hypoxia-inducible factor 3	Vitamin C(DB00126)						24.0	28.0	26.0					14																	34419578		2168	4240	6408	SO:0001627	intron_variant	112399				apoptosis	cytoplasm|nucleus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding	g.chr14:34419578G>T	AJ310545	CCDS9646.1	14q12	2013-08-21	2013-08-21		ENSG00000129521	ENSG00000129521			14661	protein-coding gene	gene with protein product	"""HIF prolyl hydroxylase 3"""	606426	"""EGL nine (C.elegans) homolog 3"", ""egl nine homolog 3 (C. elegans)"""				Standard	NM_022073		Approved	PHD3, HIFPH3	uc001wsa.4	Q9H6Z9	OTTHUMG00000029498	ENST00000250457.3:c.357+23C>A	14.37:g.34419578G>T						EGLN3_ENST00000250457.3_Intron|EGLN3_ENST00000553215.1_Intron	p.A127A			Q9H6Z9	EGLN3_HUMAN	LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155)	GBM - Glioblastoma multiforme(112;0.0118)	1	709	-	Breast(36;0.0303)|Hepatocellular(127;0.133)		127			Fe2OG dioxygenase.		Q2TA79|Q3B8N4|Q6P1R2	Silent	SNP	ENST00000250457.3	37	c.381C>A	CCDS9646.1																																																																																				0.607	EGLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276647.1			21	30	1	0	1.10923e-09	1	1.37058e-09	21	30				
NUDT6	11162	broad.mit.edu	37	4	123814172	123814172	+	Silent	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:123814172C>A	ENST00000304430.5	-	5	795	c.762G>T	c.(760-762)ctG>ctT	p.L254L	NUDT6_ENST00000339154.2_Silent_p.L85L|NUDT6_ENST00000608639.1_5'Flank|NUDT6_ENST00000502270.1_Silent_p.L85L|FGF2_ENST00000264498.3_3'UTR|FGF2_ENST00000608478.1_3'UTR	NM_007083.4	NP_009014.2	P53370	NUDT6_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 6	254	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					mitochondrion (GO:0005739)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|hydrolase activity (GO:0016787)			endometrium(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	6						CAGTCTTCGCCAGGTCATTGA	0.438																																						ENST00000304430.5																			0				endometrium(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	6						c.(760-762)ctG>ctT		nudix (nucleoside diphosphate linked moiety X)-type motif 6							135.0	126.0	129.0					4																	123814172		2203	4300	6503	SO:0001819	synonymous_variant	11162					mitochondrion|nucleus	growth factor activity|hydrolase activity	g.chr4:123814172C>A	AF019632	CCDS3729.1, CCDS43268.1	4q26	2011-02-21			ENSG00000170917	ENSG00000170917		"""Nudix motif containing"""	8053	protein-coding gene	gene with protein product		606261				7984147, 10022609	Standard	NM_198041		Approved	gfg-1, gfg, FGF2AS, FGF-AS	uc003iew.3	P53370	OTTHUMG00000039507	ENST00000304430.5:c.762G>T	4.37:g.123814172C>A						NUDT6_ENST00000502270.1_Silent_p.L85L|NUDT6_ENST00000339154.2_Silent_p.L85L|FGF2_ENST00000264498.3_3'UTR	p.L254L	NM_007083.4	NP_009014.2	P53370	NUDT6_HUMAN			5	795	-			254			Nudix hydrolase.		A8K756|O95097|Q9UQD9	Silent	SNP	ENST00000304430.5	37	c.762G>T	CCDS43268.1																																																																																				0.438	NUDT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095331.3	NM_007083		31	87	1	0	5.77227e-19	1	8.10995e-19	31	87				
UGT3A1	133688	broad.mit.edu	37	5	35965518	35965518	+	Silent	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr5:35965518C>T	ENST00000274278.3	-	4	1170	c.813G>A	c.(811-813)ttG>ttA	p.L271L	UGT3A1_ENST00000333811.4_Silent_p.L217L|UGT3A1_ENST00000503189.1_Silent_p.L271L|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000507113.1_Silent_p.L237L	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	271						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTTTTTCCATCAAGCCTCCAA	0.448																																						ENST00000274278.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46						c.(811-813)ttG>ttA		UDP glycosyltransferase 3 family, polypeptide A1							88.0	90.0	89.0					5																	35965518		2203	4300	6503	SO:0001819	synonymous_variant	133688					integral to membrane	glucuronosyltransferase activity	g.chr5:35965518C>T		CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"""UDP glucuronosyltransferases"""	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.813G>A	5.37:g.35965518C>T						UGT3A1_ENST00000333811.4_Silent_p.L217L|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000503189.1_Silent_p.L271L|UGT3A1_ENST00000507113.1_Silent_p.L237L	p.L271L	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		4	1170	-	all_lung(31;0.000197)		271					G5E961|Q8IYS9|Q8NAW4|Q96DM6	Silent	SNP	ENST00000274278.3	37	c.813G>A	CCDS3913.1																																																																																				0.448	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404		12	48	0	0	0	1	0	12	48				
PKMYT1	9088	broad.mit.edu	37	16	3024069	3024069	+	Silent	SNP	A	A	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr16:3024069A>T	ENST00000262300.8	-	7	1750	c.1242T>A	c.(1240-1242)ccT>ccA	p.P414P	PKMYT1_ENST00000431515.2_Silent_p.P414P|PKMYT1_ENST00000574385.1_Silent_p.P405P|PKMYT1_ENST00000573944.1_Silent_p.P405P|PKMYT1_ENST00000574730.1_Silent_p.P345P|PKMYT1_ENST00000440027.2_Silent_p.P414P	NM_001258450.1|NM_004203.4|NM_182687.2	NP_001245379.1|NP_004194.3|NP_872629.1	Q99640	PMYT1_HUMAN	protein kinase, membrane associated tyrosine/threonine 1	414	Interaction with PIN1.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GTGGTGAGCCAGGCGGGGTGG	0.677																																						ENST00000431515.2																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(1240-1242)ccT>ccA		protein kinase, membrane associated tyrosine/threonine 1							21.0	24.0	23.0					16																	3024069		2193	4297	6490	SO:0001819	synonymous_variant	9088				G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis	endoplasmic reticulum membrane|Golgi membrane|membrane fraction|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:3024069A>T	AK097642	CCDS10486.1, CCDS45391.1, CCDS58414.1, CCDS58415.1	16p13.3	2014-06-13			ENSG00000127564	ENSG00000127564			29650	protein-coding gene	gene with protein product	"""membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase"", ""protein phosphatase 1, regulatory subunit 126"""	602474				9001210, 12606722	Standard	NM_004203		Approved	MYT1, PPP1R126	uc002csn.3	Q99640	OTTHUMG00000128975	ENST00000262300.8:c.1242T>A	16.37:g.3024069A>T						PKMYT1_ENST00000262300.8_Silent_p.P414P|PKMYT1_ENST00000573944.1_Silent_p.P405P|PKMYT1_ENST00000574385.1_Silent_p.P405P|PKMYT1_ENST00000574730.1_Silent_p.P345P|PKMYT1_ENST00000440027.2_Silent_p.P414P	p.P414P			Q99640	PMYT1_HUMAN			7	1627	-			414			Interaction with PIN1.		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	ENST00000262300.8	37	c.1242T>A	CCDS10486.1																																																																																				0.677	PKMYT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250963.2	NM_004203		3	15	0	0	0	1	0	3	15				
TAS2R40	259286	broad.mit.edu	37	7	142919874	142919874	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:142919874A>T	ENST00000408947.3	+	1	745	c.703A>T	c.(703-705)Agg>Tgg	p.R235W	AC073342.1_ENST00000595842.1_5'Flank	NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	235					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					CACAGGGTCCAGGGACCCCAG	0.507																																						ENST00000408947.3																			0				kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						c.(703-705)Agg>Tgg		taste receptor, type 2, member 40							118.0	115.0	116.0					7																	142919874		1943	4143	6086	SO:0001583	missense	259286				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:142919874A>T	AF494229	CCDS43662.1	7q34	2012-08-22	2003-12-16		ENSG00000221937	ENSG00000221937		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18885	protein-coding gene	gene with protein product		613964	"""G protein-coupled receptor 60"""	GPR60		12379855	Standard	NM_176882		Approved		uc011ksx.2	P59535	OTTHUMG00000152638	ENST00000408947.3:c.703A>T	7.37:g.142919874A>T	ENSP00000386210:p.Arg235Trp						p.R235W	NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN			1	745	+	Melanoma(164;0.059)		235					A4D2I2|Q645W6	Missense_Mutation	SNP	ENST00000408947.3	37	c.703A>T	CCDS43662.1	.	.	.	.	.	.	.	.	.	.	A	15.63	2.890892	0.52014	.	.	ENSG00000221937	ENST00000408947	T	0.00986	5.47	5.74	0.487	0.16842	.	0.190491	0.35096	U	0.003450	T	0.03695	0.0105	M	0.80746	2.51	0.35967	D	0.835007	D	0.63880	0.993	D	0.71656	0.974	T	0.34204	-0.9838	10	0.87932	D	0	.	5.626	0.17482	0.4801:0.2341:0.2858:0.0	.	235	P59535	T2R40_HUMAN	W	235	ENSP00000386210:R235W	ENSP00000386210:R235W	R	+	1	2	TAS2R40	142629996	0.192000	0.23301	0.999000	0.59377	0.970000	0.65996	0.392000	0.20801	0.115000	0.18071	-0.274000	0.10170	AGG		0.507	TAS2R40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327097.1			38	112	0	0	0	1	0	38	112				
FMN2	56776	broad.mit.edu	37	1	240351556	240351556	+	Silent	SNP	C	C	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:240351556C>G	ENST00000319653.9	+	4	2210	c.1980C>G	c.(1978-1980)gtC>gtG	p.V660V		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	660					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CAGATGCTGTCCAGAAGGTAA	0.408																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(1978-1980)gtC>gtG		formin 2							149.0	141.0	143.0					1																	240351556		2203	4300	6503	SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240351556C>G	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.1980C>G	1.37:g.240351556C>G							p.V660V	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		4	2210	+	Ovarian(103;0.127)	all_cancers(173;0.013)	660					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.1980C>G	CCDS31069.2																																																																																				0.408	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		16	48	0	0	0	1	0	16	48				
ATN1	1822	broad.mit.edu	37	12	7047905	7047905	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr12:7047905G>T	ENST00000356654.4	+	7	3016	c.2779G>T	c.(2779-2781)Gat>Tat	p.D927Y	ATN1_ENST00000396684.2_Missense_Mutation_p.D927Y	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	927					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GTACAGCAGTGATCCAGCTGC	0.622																																						ENST00000356654.4																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(2779-2781)Gat>Tat		atrophin 1							60.0	69.0	66.0					12																	7047905		2203	4300	6503	SO:0001583	missense	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7047905G>T	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.2779G>T	12.37:g.7047905G>T	ENSP00000349076:p.Asp927Tyr					ATN1_ENST00000396684.2_Missense_Mutation_p.D927Y	p.D927Y	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN			7	3016	+			927					Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	ENST00000356654.4	37	c.2779G>T	CCDS31734.1	.	.	.	.	.	.	.	.	.	.	G	20.0	3.931313	0.73442	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325;ENST00000229279	T;T;T	0.54479	0.57;0.57;0.57	4.69	4.69	0.59074	.	0.464299	0.15673	U	0.250277	T	0.69097	0.3073	L	0.49778	1.585	0.58432	D	0.999993	D	0.71674	0.998	D	0.80764	0.994	T	0.71002	-0.4718	10	0.87932	D	0	.	18.2599	0.90031	0.0:0.0:1.0:0.0	.	927	P54259	ATN1_HUMAN	Y	927;927;927;512	ENSP00000349076:D927Y;ENSP00000379915:D927Y;ENSP00000441744:D927Y	ENSP00000229279:D512Y	D	+	1	0	ATN1	6918166	1.000000	0.71417	1.000000	0.80357	0.599000	0.36880	9.175000	0.94831	2.618000	0.88619	0.650000	0.86243	GAT		0.622	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		18	104	1	0	3.52763e-06	1	3.89942e-06	18	104				
CCDC85A	114800	broad.mit.edu	37	2	56420144	56420144	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:56420144G>T	ENST00000407595.2	+	2	1311	c.809G>T	c.(808-810)cGc>cTc	p.R270L	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	270	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACCCCAGATCGCCCCAAAGCA	0.652																																						ENST00000407595.2																			0				breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38						c.(808-810)cGc>cTc		coiled-coil domain containing 85A							42.0	56.0	52.0					2																	56420144		1996	4190	6186	SO:0001583	missense	114800							g.chr2:56420144G>T	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.809G>T	2.37:g.56420144G>T	ENSP00000384040:p.Arg270Leu					RP11-482H16.1_ENST00000607540.1_RNA	p.R270L	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		2	1311	+			270			His-rich.			Missense_Mutation	SNP	ENST00000407595.2	37	c.809G>T	CCDS46290.1	.	.	.	.	.	.	.	.	.	.	G	7.960	0.746868	0.15710	.	.	ENSG00000055813	ENST00000407595	T	0.51071	0.72	5.35	3.0	0.34707	.	0.137823	0.64402	D	0.000003	T	0.26774	0.0655	N	0.22421	0.69	0.80722	D	1	B	0.28350	0.208	B	0.19666	0.026	T	0.04723	-1.0931	10	0.11182	T	0.66	-6.8881	9.1145	0.36748	0.8509:0.0:0.1491:0.0	.	270	Q96PX6	CC85A_HUMAN	L	270	ENSP00000384040:R270L	ENSP00000384040:R270L	R	+	2	0	CCDC85A	56273648	0.999000	0.42202	0.998000	0.56505	0.944000	0.59088	1.851000	0.39338	0.881000	0.35993	-0.312000	0.09012	CGC		0.652	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1			15	40	1	0	2.31682e-05	1	2.49376e-05	15	40				
ZNF668	79759	broad.mit.edu	37	16	31075210	31075210	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr16:31075210C>T	ENST00000538906.1	-	2	1355	c.571G>A	c.(571-573)Gct>Act	p.A191T	ZNF668_ENST00000539836.3_Missense_Mutation_p.A214T|ZNF668_ENST00000394983.2_Missense_Mutation_p.A191T|ZNF668_ENST00000535577.1_Missense_Mutation_p.A191T|ZNF668_ENST00000426488.2_Missense_Mutation_p.A214T|AC135050.5_ENST00000568708.1_RNA|ZNF668_ENST00000564456.1_5'Flank|ZNF668_ENST00000300849.4_Missense_Mutation_p.A191T	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	191					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(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CGCAGGCCAGCGTGAGTACGC	0.667																																					Colon(181;1111 1980 5060 10512 25785)	ENST00000538906.1																			0				breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(571-573)Gct>Act		zinc finger protein 668							19.0	19.0	19.0					16																	31075210		2193	4296	6489	SO:0001583	missense	79759				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31075210C>T		CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"""Zinc fingers, C2H2-type"""	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.571G>A	16.37:g.31075210C>T	ENSP00000440149:p.Ala191Thr					ZNF668_ENST00000300849.4_Missense_Mutation_p.A191T|ZNF668_ENST00000539836.3_Missense_Mutation_p.A214T|ZNF668_ENST00000426488.2_Missense_Mutation_p.A214T|ZNF668_ENST00000535577.1_Missense_Mutation_p.A191T|ZNF668_ENST00000394983.2_Missense_Mutation_p.A191T	p.A191T	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN			2	1355	-			191					C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	ENST00000538906.1	37	c.571G>A	CCDS10701.1	.	.	.	.	.	.	.	.	.	.	C	10.98	1.503941	0.26949	.	.	ENSG00000167394	ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849	T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24	5.18	5.18	0.71444	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.216400	0.39083	N	0.001480	T	0.12646	0.0307	N	0.01482	-0.84	0.40675	D	0.982257	P	0.39665	0.682	B	0.33620	0.167	T	0.30001	-0.9993	10	0.02654	T	1	-23.0876	17.613	0.88059	0.0:1.0:0.0:0.0	.	191	Q96K58	ZN668_HUMAN	T	214;191;191;191;191	ENSP00000442573:A214T;ENSP00000441349:A191T;ENSP00000440149:A191T;ENSP00000378434:A191T;ENSP00000300849:A191T	ENSP00000300849:A191T	A	-	1	0	ZNF668	30982711	0.997000	0.39634	0.804000	0.32291	0.894000	0.52154	0.605000	0.24179	2.694000	0.91930	0.555000	0.69702	GCT		0.667	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706		5	7	0	0	0	1	0	5	7				
TRPM6	140803	broad.mit.edu	37	9	77442627	77442627	+	Intron	SNP	G	G	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr9:77442627G>C	ENST00000360774.1	-	7	1079				TRPM6_ENST00000359047.2_Missense_Mutation_p.P303R|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000361255.3_Intron|TRPM6_ENST00000376864.4_Intron|TRPM6_ENST00000451710.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000483186.1_Intron|TRPM6_ENST00000449912.2_Intron	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6						calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TGATGGTCAGGGAAGACCATG	0.557																																						ENST00000359047.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(907-909)cCc>cGc		transient receptor potential cation channel, subfamily M, member 6																																				SO:0001627	intron_variant	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77442627G>C	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.841+66C>G	9.37:g.77442627G>C						TRPM6_ENST00000483186.1_Intron|TRPM6_ENST00000451710.3_Intron|TRPM6_ENST00000449912.2_Intron|TRPM6_ENST00000376864.4_Intron|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Intron|TRPM6_ENST00000360774.1_Intron	p.P303R			Q9BX84	TRPM6_HUMAN			7	1145	-			0					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.908C>G	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	G	6.700	0.497736	0.12762	.	.	ENSG00000119121	ENST00000359047	T	0.61980	0.06	0.847	-0.167	0.13347	.	.	.	.	.	T	0.46833	0.1413	.	.	.	0.09310	N	0.999999	B	0.10296	0.003	B	0.04013	0.001	T	0.41466	-0.9507	8	0.87932	D	0	.	4.6866	0.12760	0.0:0.407:0.593:0.0	.	303	Q96LV9	.	R	303	ENSP00000351942:P303R	ENSP00000351942:P303R	P	-	2	0	TRPM6	76632447	0.138000	0.22547	0.091000	0.20842	0.006000	0.05464	1.570000	0.36439	-0.074000	0.12820	-0.676000	0.03789	CCC		0.557	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		19	13	0	0	0	1	0	19	13				
MOCS1	4337	broad.mit.edu	37	6	39874378	39874378	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:39874378G>A	ENST00000340692.5	-	11	1669	c.1666C>T	c.(1666-1668)Cac>Tac	p.H556Y	MOCS1_ENST00000373175.4_3'UTR|MOCS1_ENST00000373195.3_Missense_Mutation_p.H453Y|MOCS1_ENST00000373188.2_3'UTR|MOCS1_ENST00000425303.2_Missense_Mutation_p.H556Y|MOCS1_ENST00000308559.7_Missense_Mutation_p.H540Y|MOCS1_ENST00000373186.4_3'UTR			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	556	Molybdenum cofactor biosynthesis protein C.				Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|molybdopterin synthase complex (GO:0019008)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|cyclic pyranopterin monophosphate synthase activity (GO:0061597)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					AGGGCCACGTGGTGGCACAGA	0.652																																					NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)	ENST00000308559.7																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21						c.(1618-1620)Cac>Tac		molybdenum cofactor synthesis 1							44.0	46.0	45.0					6																	39874378		2203	4300	6503	SO:0001583	missense	4337				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding	g.chr6:39874378G>A	AJ224328	CCDS4846.1, CCDS43460.1	6p21.2	2012-05-08			ENSG00000124615	ENSG00000124615			7190	protein-coding gene	gene with protein product		603707				9731530, 10053004	Standard	NM_001075098		Approved	MOCOD	uc003opb.3	Q9NZB8	OTTHUMG00000014656	ENST00000340692.5:c.1666C>T	6.37:g.39874378G>A	ENSP00000344794:p.His556Tyr					MOCS1_ENST00000373188.2_3'UTR|MOCS1_ENST00000340692.5_Missense_Mutation_p.H556Y|MOCS1_ENST00000373175.4_3'UTR|MOCS1_ENST00000425303.2_Missense_Mutation_p.H556Y|MOCS1_ENST00000373195.3_Missense_Mutation_p.H453Y|MOCS1_ENST00000373186.4_3'UTR	p.H540Y			Q9NZB8	MOCS1_HUMAN			10	1751	-	Ovarian(28;0.0355)|Colorectal(47;0.196)		556			Molybdenum cofactor biosynthesis protein C.		B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1	Missense_Mutation	SNP	ENST00000340692.5	37	c.1618C>T		.	.	.	.	.	.	.	.	.	.	G	12.36	1.916028	0.33815	.	.	ENSG00000124615	ENST00000308559;ENST00000373195;ENST00000340692;ENST00000425303	T;T;T;T	0.29917	1.55;1.55;1.56;1.56	5.41	4.54	0.55810	Molybdopterin cofactor biosynthesis C (MoaC) domain (3);	0.413386	0.25854	N	0.027868	T	0.18173	0.0436	.	.	.	0.80722	D	1	P;P;P	0.43633	0.813;0.714;0.666	B;B;B	0.41374	0.331;0.355;0.259	T	0.02167	-1.1202	9	0.54805	T	0.06	-8.9119	12.5273	0.56093	0.0:0.0:0.5514:0.4486	.	540;556;556	Q9NZB8-2;Q9NZB8;Q9NZB8-8	.;MOCS1_HUMAN;.	Y	540;453;556;556	ENSP00000309843:H540Y;ENSP00000362291:H453Y;ENSP00000344794:H556Y;ENSP00000416478:H556Y	ENSP00000309843:H540Y	H	-	1	0	MOCS1	39982356	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.576000	0.46033	1.264000	0.44198	0.563000	0.77884	CAC		0.652	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000040476.2	NM_005943		13	53	0	0	0	1	0	13	53				
GUCY1A3	2982	broad.mit.edu	37	4	156632130	156632130	+	Silent	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:156632130C>A	ENST00000296518.7	+	6	1022	c.813C>A	c.(811-813)ccC>ccA	p.P271P	GUCY1A3_ENST00000393832.3_Silent_p.P13P|GUCY1A3_ENST00000513574.1_Silent_p.P271P|GUCY1A3_ENST00000511108.1_Silent_p.P271P|GUCY1A3_ENST00000506455.1_Silent_p.P271P|GUCY1A3_ENST00000455639.2_Silent_p.P271P|GUCY1A3_ENST00000511507.1_Silent_p.P271P			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	271					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CCAGCAAACCCCAGTCCTCGC	0.463																																						ENST00000296518.7																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(811-813)ccC>ccA		guanylate cyclase 1, soluble, alpha 3							114.0	108.0	110.0					4																	156632130		2203	4300	6503	SO:0001819	synonymous_variant	2982				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	g.chr4:156632130C>A		CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.813C>A	4.37:g.156632130C>A						GUCY1A3_ENST00000393832.3_Silent_p.P13P|GUCY1A3_ENST00000506455.1_Silent_p.P271P|GUCY1A3_ENST00000511108.1_Silent_p.P271P|GUCY1A3_ENST00000513574.1_Silent_p.P271P|GUCY1A3_ENST00000511507.1_Silent_p.P271P|GUCY1A3_ENST00000455639.2_Silent_p.P271P	p.P271P			Q02108	GCYA3_HUMAN		COAD - Colon adenocarcinoma(41;0.17)	6	1022	+	all_hematologic(180;0.24)	Renal(120;0.0854)	271					D3DP19|D6RDW3|O43843|Q8TAH3	Silent	SNP	ENST00000296518.7	37	c.813C>A	CCDS34085.1																																																																																				0.463	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2			21	67	1	0	3.83957e-06	1	4.23385e-06	21	67				
PDE3A	5139	broad.mit.edu	37	12	20801724	20801724	+	Missense_Mutation	SNP	G	G	T	rs368007366		TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr12:20801724G>T	ENST00000359062.3	+	13	2708	c.2668G>T	c.(2668-2670)Gac>Tac	p.D890Y	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	890	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	AATTAACCTTGACCATGTGGA	0.408																																						ENST00000359062.3																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58						c.(2668-2670)Gac>Tac		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						151.0	139.0	143.0					12																	20801724		2203	4300	6503	SO:0001583	missense	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20801724G>T		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.2668G>T	12.37:g.20801724G>T	ENSP00000351957:p.Asp890Tyr					PDE3A_ENST00000544307.1_3'UTR	p.D890Y	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN			13	2708	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	890			Catalytic (By similarity).		O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.2668G>T	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.657925	0.88154	.	.	ENSG00000172572	ENST00000359062	T	0.78816	-1.21	5.76	5.76	0.90799	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.097395	0.64402	D	0.000001	D	0.90188	0.6933	M	0.86343	2.81	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.91086	0.4903	10	0.87932	D	0	.	19.9617	0.97254	0.0:0.0:1.0:0.0	.	890	Q14432	PDE3A_HUMAN	Y	890	ENSP00000351957:D890Y	ENSP00000351957:D890Y	D	+	1	0	PDE3A	20692991	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.412000	0.97347	2.722000	0.93159	0.650000	0.86243	GAC		0.408	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			28	120	1	0	2.79863e-10	1	3.51583e-10	28	120				
MYH2	4620	broad.mit.edu	37	17	10432120	10432120	+	Nonsense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr17:10432120C>A	ENST00000245503.5	-	27	4015	c.3631G>T	c.(3631-3633)Gag>Tag	p.E1211*	MYH2_ENST00000397183.2_Nonsense_Mutation_p.E1211*|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1211					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCAATCTGCTCCCCAAGCTCG	0.537																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(3631-3633)Gag>Tag		myosin, heavy chain 2, skeletal muscle, adult							88.0	82.0	84.0					17																	10432120		2203	4297	6500	SO:0001587	stop_gained	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10432120C>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3631G>T	17.37:g.10432120C>A	ENSP00000245503:p.Glu1211*					MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Nonsense_Mutation_p.E1211*|CTC-297N7.7_ENST00000399342.2_RNA	p.E1211*	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			27	4015	-			1211					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Nonsense_Mutation	SNP	ENST00000245503.5	37	c.3631G>T	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	45	11.384991	0.99554	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	.	.	.	5.18	5.18	0.71444	.	0.000000	0.39475	U	0.001342	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.8905	0.92399	0.0:1.0:0.0:0.0	.	.	.	.	X	1211	.	ENSP00000245503:E1211X	E	-	1	0	MYH2	10372845	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.607000	0.82883	2.707000	0.92482	0.655000	0.94253	GAG		0.537	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		33	77	1	0	4.74835e-14	1	6.39256e-14	33	77				
SLC25A13	10165	broad.mit.edu	37	7	95775870	95775870	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:95775870T>C	ENST00000265631.5	-	14	1586	c.1450A>G	c.(1450-1452)Aag>Gag	p.K484E	SLC25A13_ENST00000416240.2_Missense_Mutation_p.K485E|SLC25A13_ENST00000542654.1_Missense_Mutation_p.K376E			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	484					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	AAAGTTACCTTGTAGATCCCA	0.388																																						ENST00000416240.2																			0				breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42						c.(1453-1455)Aag>Gag		solute carrier family 25 (aspartate/glutamate carrier), member 13	L-Aspartic Acid(DB00128)						78.0	92.0	88.0					7																	95775870		2203	4300	6503	SO:0001583	missense	10165				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity	g.chr7:95775870T>C	AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"""Solute carriers"", ""EF-hand domain containing"""	10983	protein-coding gene	gene with protein product	"""mitochondrial aspartate glutamate carrier 2"""	603859	"""solute carrier family 25, member 13 (citrin)"""	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.1450A>G	7.37:g.95775870T>C	ENSP00000265631:p.Lys484Glu					SLC25A13_ENST00000542654.1_Missense_Mutation_p.K376E|SLC25A13_ENST00000265631.5_Missense_Mutation_p.K484E	p.K485E	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	STAD - Stomach adenocarcinoma(171;0.194)		14	1643	-	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		484					O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Missense_Mutation	SNP	ENST00000265631.5	37	c.1453A>G	CCDS5645.1	.	.	.	.	.	.	.	.	.	.	T	29.5	5.012616	0.93346	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	D;D;D	0.81579	-1.51;-1.51;-1.51	4.63	4.63	0.57726	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.93344	0.7878	H	0.97940	4.11	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.992;0.996;0.996	D	0.95610	0.8671	10	0.87932	D	0	-13.1187	14.5319	0.67931	0.0:0.0:0.0:1.0	.	376;485;484	F5GX33;Q546F9;Q9UJS0	.;.;CMC2_HUMAN	E	484;485;376	ENSP00000265631:K484E;ENSP00000400101:K485E;ENSP00000440484:K376E	ENSP00000265631:K484E	K	-	1	0	SLC25A13	95613806	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.868000	0.87116	2.084000	0.62774	0.533000	0.62120	AAG		0.388	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	NM_014251		36	89	0	0	0	1	0	36	89				
DLK1	8788	broad.mit.edu	37	14	101194741	101194741	+	Missense_Mutation	SNP	T	T	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr14:101194741T>G	ENST00000341267.4	+	2	318	c.76T>G	c.(76-78)Tgc>Ggc	p.C26G	DLK1_ENST00000556051.1_Missense_Mutation_p.C26G|DLK1_ENST00000331224.6_Missense_Mutation_p.C26G	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	26	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|negative regulation of Notch signaling pathway (GO:0045746)|Notch signaling pathway (GO:0007219)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				AGGGGCTGAATGCTTCCCGGC	0.572																																						ENST00000341267.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29						c.(76-78)Tgc>Ggc		delta-like 1 homolog (Drosophila)							96.0	100.0	99.0					14																	101194741		2203	4300	6503	SO:0001583	missense	8788				multicellular organismal development	extracellular space|integral to membrane|soluble fraction		g.chr14:101194741T>G	U15979	CCDS9963.1	14q32	2011-12-05	2001-12-03			ENSG00000185559			2907	protein-coding gene	gene with protein product		176290	"""delta-like homolog (Drosophila)"""			8095043, 7925474	Standard	NM_003836		Approved	FA1, pG2, Pref-1, ZOG, Delta1	uc001yhs.4	P80370		ENST00000341267.4:c.76T>G	14.37:g.101194741T>G	ENSP00000340292:p.Cys26Gly					DLK1_ENST00000556051.1_Missense_Mutation_p.C26G|DLK1_ENST00000331224.6_Missense_Mutation_p.C26G	p.C26G	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN			2	318	+		Melanoma(154;0.155)	26			EGF-like 1.		P15803|Q96DW5	Missense_Mutation	SNP	ENST00000341267.4	37	c.76T>G	CCDS9963.1	.	.	.	.	.	.	.	.	.	.	T	14.49	2.551069	0.45383	.	.	ENSG00000185559	ENST00000392848;ENST00000341267;ENST00000331224;ENST00000556051	D;T;T;D	0.93953	-2.66;-0.73;-0.73;-3.32	4.21	4.21	0.49690	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.95367	0.8496	M	0.91612	3.225	0.80722	D	1	D;P	0.58620	0.983;0.895	P;B	0.48840	0.592;0.446	D	0.96078	0.9051	10	0.87932	D	0	.	13.1629	0.59554	0.0:0.0:0.0:1.0	.	26;26	P80370-2;P80370	.;DLK1_HUMAN	G	26	ENSP00000376589:C26G;ENSP00000340292:C26G;ENSP00000331081:C26G;ENSP00000450821:C26G	ENSP00000331081:C26G	C	+	1	0	DLK1	100264494	1.000000	0.71417	0.942000	0.38095	0.103000	0.19146	6.314000	0.72848	1.857000	0.53885	0.460000	0.39030	TGC		0.572	DLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414389.1			5	34	0	0	0	1	0	5	34				
CSMD3	114788	broad.mit.edu	37	8	113318355	113318355	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr8:113318355C>G	ENST00000297405.5	-	51	8196	c.7952G>C	c.(7951-7953)gGa>gCa	p.G2651A	CSMD3_ENST00000343508.3_Missense_Mutation_p.G2611A|CSMD3_ENST00000455883.2_Missense_Mutation_p.G2547A|CSMD3_ENST00000352409.3_Missense_Mutation_p.G2581A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2651	Sushi 15. {ECO:0000255|PROSITE- ProRule:PRU00302}.					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						AACTCGCGTTCCTACCAAATA	0.378										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.(7951-7953)gGa>gCa		CUB and Sushi multiple domains 3							149.0	134.0	139.0					8																	113318355		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113318355C>G	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.7952G>C	8.37:g.113318355C>G	ENSP00000297405:p.Gly2651Ala	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000455883.2_Missense_Mutation_p.G2547A|CSMD3_ENST00000352409.3_Missense_Mutation_p.G2581A|CSMD3_ENST00000343508.3_Missense_Mutation_p.G2611A	p.G2651A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			51	8196	-			2651			Sushi 15.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.7952G>C	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.412742	0.83340	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65	5.53	5.53	0.82687	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000002	D	0.88775	0.6528	M	0.93978	3.48	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.97110	0.999;1.0;0.979	D	0.90671	0.4598	10	0.56958	D	0.05	.	19.4468	0.94851	0.0:1.0:0.0:0.0	.	2547;2651;2611	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	A	2611;2651;1921;2547;2581	ENSP00000345799:G2611A;ENSP00000297405:G2651A;ENSP00000341558:G1921A;ENSP00000412263:G2547A;ENSP00000343124:G2581A	ENSP00000297405:G2651A	G	-	2	0	CSMD3	113387531	1.000000	0.71417	1.000000	0.80357	0.630000	0.37929	7.792000	0.85828	2.591000	0.87537	0.557000	0.71058	GGA		0.378	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		20	80	0	0	0	1	0	20	80				
MRPL21	219927	broad.mit.edu	37	11	68665462	68665462	+	Silent	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr11:68665462G>T	ENST00000362034.2	-	3	174	c.165C>A	c.(163-165)tcC>tcA	p.S55S	MRPL21_ENST00000567045.1_5'UTR|MRPL21_ENST00000450904.2_5'UTR	NM_181514.1|NM_181515.1	NP_852615.1|NP_852616.1	Q7Z2W9	RM21_HUMAN	mitochondrial ribosomal protein L21	55					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(1)|lung(6)|prostate(1)	8			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GTGAACTCAGGGATGTTTTAG	0.473																																						ENST00000362034.2																			0				large_intestine(1)|lung(6)|prostate(1)	8						c.(163-165)tcC>tcA		mitochondrial ribosomal protein L21							152.0	128.0	136.0					11																	68665462		2200	4294	6494	SO:0001819	synonymous_variant	219927				translation	mitochondrion|ribosome	RNA binding|structural constituent of ribosome	g.chr11:68665462G>T	AK096756	CCDS8186.1, CCDS44662.1	11q13.3	2012-09-13			ENSG00000197345	ENSG00000197345		"""Mitochondrial ribosomal proteins / large subunits"""	14479	protein-coding gene	gene with protein product		611834				11551941	Standard	NM_181514		Approved		uc001ooi.3	Q7Z2W9	OTTHUMG00000167893	ENST00000362034.2:c.165C>A	11.37:g.68665462G>T						MRPL21_ENST00000567045.1_5'UTR|MRPL21_ENST00000450904.2_5'UTR	p.S55S	NM_181514.1|NM_181515.1	NP_852615.1|NP_852616.1	Q7Z2W9	RM21_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		3	174	-			55					A6NKU0|C9JPR2	Silent	SNP	ENST00000362034.2	37	c.165C>A	CCDS8186.1																																																																																				0.473	MRPL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396856.1	NM_181512		37	123	1	0	8.73648e-17	1	1.21986e-16	37	123				
PNLIPRP1	5407	broad.mit.edu	37	10	118355782	118355782	+	Silent	SNP	C	C	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr10:118355782C>G	ENST00000528052.1	+	6	593	c.522C>G	c.(520-522)gcC>gcG	p.A174A	PNLIPRP1_ENST00000358834.4_Silent_p.A174A|PNLIPRP1_ENST00000534537.1_Silent_p.A174A			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	174					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		GCCTGGGAGCCCACGTGGCTG	0.552																																						ENST00000528052.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38						c.(520-522)gcC>gcG		pancreatic lipase-related protein 1							141.0	148.0	146.0					10																	118355782		2203	4300	6503	SO:0001819	synonymous_variant	5407				lipid metabolic process		calcium ion binding|triglyceride lipase activity	g.chr10:118355782C>G	BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	ENST00000528052.1:c.522C>G	10.37:g.118355782C>G						PNLIPRP1_ENST00000534537.1_Silent_p.A174A|PNLIPRP1_ENST00000358834.4_Silent_p.A174A	p.A174A			P54315	LIPR1_HUMAN		all cancers(201;0.0161)	6	593	+			174					Q68D83|Q68DR6|Q8TAU2|Q9BS82	Silent	SNP	ENST00000528052.1	37	c.522C>G	CCDS7595.1																																																																																				0.552	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384633.1	NM_006229		31	149	0	0	0	1	0	31	149				
DMRTC2	63946	broad.mit.edu	37	19	42354396	42354396	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:42354396C>T	ENST00000269945.3	+	7	823	c.772C>T	c.(772-774)Ctc>Ttc	p.L258F	DMRTC2_ENST00000596827.1_Missense_Mutation_p.L258F	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	258	Pro-rich.				male meiosis I (GO:0007141)|positive regulation of histone H3-K9 dimethylation (GO:1900111)|positive regulation of histone H3-K9 trimethylation (GO:1900114)|sex differentiation (GO:0007548)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|XY body (GO:0001741)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						AACTCTGATACTCCAGCCCTG	0.537																																						ENST00000269945.3																			0				endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						c.(772-774)Ctc>Ttc		DMRT-like family C2							234.0	243.0	240.0					19																	42354396		2203	4300	6503	SO:0001583	missense	63946				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr19:42354396C>T	AJ291669	CCDS33034.1	19q13.2	2008-07-16				ENSG00000142025			13911	protein-coding gene	gene with protein product		614806				11863363	Standard	NM_001040283		Approved		uc002ors.3	Q8IXT2		ENST00000269945.3:c.772C>T	19.37:g.42354396C>T	ENSP00000269945:p.Leu258Phe					DMRTC2_ENST00000596827.1_Missense_Mutation_p.L258F	p.L258F	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN			7	823	+			258			Pro-rich.		Q8N6Q2|Q96M39|Q96SD4	Missense_Mutation	SNP	ENST00000269945.3	37	c.772C>T	CCDS33034.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.286730	0.59867	.	.	ENSG00000142025	ENST00000269945	T	0.35789	1.29	4.85	2.64	0.31445	.	0.109437	0.37095	N	0.002245	T	0.52075	0.1712	M	0.72894	2.215	0.28452	N	0.916305	D;B	0.76494	0.999;0.02	D;B	0.85130	0.997;0.012	T	0.41998	-0.9477	10	0.44086	T	0.13	-8.3477	6.3771	0.21513	0.0:0.7114:0.1872:0.1013	.	258;258	B4DX56;Q8IXT2	.;DMRTD_HUMAN	F	258	ENSP00000269945:L258F	ENSP00000269945:L258F	L	+	1	0	DMRTC2	47046236	0.997000	0.39634	0.999000	0.59377	0.994000	0.84299	0.837000	0.27558	0.543000	0.28864	0.591000	0.81541	CTC		0.537	DMRTC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463045.1	NM_001040283		49	157	0	0	0	1	0	49	157				
COL4A3	1285	broad.mit.edu	37	2	228169782	228169782	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:228169782G>A	ENST00000396578.3	+	47	4397	c.4235G>A	c.(4234-4236)gGt>gAt	p.G1412D	AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1412	Triple-helical region.				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)		GGCAACAAAGGTTCTAAAGGA	0.488																																						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	GRCh37	CM034407	COL4A3	M		c.(4234-4236)gGt>gAt		collagen, type IV, alpha 3 (Goodpasture antigen)							59.0	60.0	59.0					2																	228169782		1888	4111	5999	SO:0001583	missense	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.chr2:228169782G>A		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.4235G>A	2.37:g.228169782G>A	ENSP00000379823:p.Gly1412Asp					AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA	p.G1412D	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)	47	4397	+		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)	1412			Triple-helical region.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	37	c.4235G>A	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.244479	0.79912	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.99619	-6.28	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000013	D	0.99843	0.9928	H	0.98701	4.305	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96687	0.9508	10	0.87932	D	0	.	18.8293	0.92132	0.0:0.0:1.0:0.0	.	1412;1412;1412;1412	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	D	1412	ENSP00000379823:G1412D	ENSP00000323334:G1412D	G	+	2	0	COL4A3	227878026	1.000000	0.71417	0.964000	0.40570	0.997000	0.91878	8.685000	0.91246	2.683000	0.91414	0.655000	0.94253	GGT		0.488	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		4	21	0	0	0	1	0	4	21				
PLEKHG4	25894	broad.mit.edu	37	16	67319227	67319227	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr16:67319227G>A	ENST00000360461.5	+	13	4765	c.2230G>A	c.(2230-2232)Gag>Aag	p.E744K	PLEKHG4_ENST00000427155.2_Missense_Mutation_p.E744K|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.E663K|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.E744K	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	744	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GGTGGCCACGGAGCGGGAGTA	0.622																																						ENST00000360461.5																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(2230-2232)Gag>Aag		pleckstrin homology domain containing, family G (with RhoGef domain) member 4							65.0	65.0	65.0					16																	67319227		2198	4300	6498	SO:0001583	missense	25894				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr16:67319227G>A	AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24501	protein-coding gene	gene with protein product	"""puratrophin-1"""	609526	"""spinocerebellar ataxia 4"""	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.2230G>A	16.37:g.67319227G>A	ENSP00000353646:p.Glu744Lys					PLEKHG4_ENST00000427155.2_Missense_Mutation_p.E744K|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.E744K|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.E663K	p.E744K	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)	13	4765	+			744			DH.		Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Missense_Mutation	SNP	ENST00000360461.5	37	c.2230G>A	CCDS32466.1	.	.	.	.	.	.	.	.	.	.	G	36	5.601918	0.96614	.	.	ENSG00000196155	ENST00000360461;ENST00000427155;ENST00000379344;ENST00000450733	D;D;D;D	0.96459	-4.02;-4.02;-4.02;-4.02	4.7	4.7	0.59300	Dbl homology (DH) domain (5);	0.000000	0.33772	N	0.004561	D	0.99032	0.9669	H	0.99286	4.5	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.995	D	0.99069	1.0833	10	0.87932	D	0	.	16.6264	0.84971	0.0:0.0:1.0:0.0	.	663;744	Q58EX7-2;Q58EX7	.;PKHG4_HUMAN	K	744;744;744;663	ENSP00000353646:E744K;ENSP00000401118:E744K;ENSP00000368649:E744K;ENSP00000398030:E663K	ENSP00000353646:E744K	E	+	1	0	PLEKHG4	65876728	1.000000	0.71417	0.931000	0.37212	0.766000	0.43426	9.809000	0.99208	2.178000	0.69098	0.561000	0.74099	GAG		0.622	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421395.2	NM_015432		3	40	0	0	0	1	0	3	40				
SPATA31D5P	347127	broad.mit.edu	37	9	84531728	84531728	+	RNA	SNP	G	G	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr9:84531728G>C	ENST00000527857.1	+	0	1750					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		ACCCTGCCCAGAGGTCAGTCC	0.517																																						ENST00000527857.1																			0																																																			347127							g.chr9:84531728G>C			9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000240632	ENSG00000240632			38602	pseudogene	pseudogene			"""family with sequence similarity 75, member D5"", ""family with sequence similarity 75, member D5, pseudogene"""	FAM75D5			Standard	NR_026851		Approved	FLJ43950, FAM75D5P	uc011lst.2		OTTHUMG00000020087		9.37:g.84531728G>C								NR_026851.1						0	1750	+									RNA	SNP	ENST00000527857.1	37																																																																																						0.517	SPATA31D5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000052810.2	NR_026851		7	25	0	0	0	1	0	7	25				
SYNE1	23345	broad.mit.edu	37	6	152652970	152652970	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:152652970C>A	ENST00000367255.5	-	78	13451	c.12850G>T	c.(12850-12852)Gca>Tca	p.A4284S	SYNE1_ENST00000341594.5_Missense_Mutation_p.A4149S|SYNE1_ENST00000423061.1_Missense_Mutation_p.A4213S|SYNE1_ENST00000265368.4_Missense_Mutation_p.A4284S|SYNE1_ENST00000448038.1_Missense_Mutation_p.A4213S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4284					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCCTGCAATGCCAATGCTAAC	0.373										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(12850-12852)Gca>Tca		spectrin repeat containing, nuclear envelope 1							91.0	92.0	92.0					6																	152652970		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152652970C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.12850G>T	6.37:g.152652970C>A	ENSP00000356224:p.Ala4284Ser	HNSCC(10;0.0054)				SYNE1_ENST00000423061.1_Missense_Mutation_p.A4213S|SYNE1_ENST00000265368.4_Missense_Mutation_p.A4284S|SYNE1_ENST00000448038.1_Missense_Mutation_p.A4213S|SYNE1_ENST00000341594.5_Missense_Mutation_p.A4149S	p.A4284S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	78	13451	-		Ovarian(120;0.0955)	4284					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.12850G>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	10.38	1.332962	0.24167	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4	5.65	3.86	0.44501	.	0.104780	0.42294	D	0.000738	T	0.09423	0.0232	L	0.51422	1.61	0.18873	N	0.999983	B;B;B;B	0.25955	0.066;0.085;0.085;0.138	B;B;B;B	0.19946	0.027;0.012;0.012;0.027	T	0.32745	-0.9895	10	0.08837	T	0.75	.	6.1644	0.20382	0.1333:0.6614:0.0:0.2053	.	4284;4284;4284;4213	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	S	4284;4213;4284;4213;4149	ENSP00000356224:A4284S;ENSP00000396024:A4213S;ENSP00000265368:A4284S;ENSP00000390975:A4213S;ENSP00000341887:A4149S	ENSP00000265368:A4284S	A	-	1	0	SYNE1	152694663	0.008000	0.16893	0.044000	0.18714	0.991000	0.79684	0.941000	0.29005	0.735000	0.32537	0.585000	0.79938	GCA		0.373	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		34	86	1	0	3.90053e-15	1	5.36322e-15	34	86				
MOGAT1	116255	broad.mit.edu	37	2	223554124	223554124	+	Silent	SNP	A	A	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:223554124A>T	ENST00000446656.3	+	3	414	c.414A>T	c.(412-414)tcA>tcT	p.S138S		NM_058165.2	NP_477513.2	Q96PD6	MOGT1_HUMAN	monoacylglycerol O-acyltransferase 1	138					diacylglycerol biosynthetic process (GO:0006651)|glycerol metabolic process (GO:0006071)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)			breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		GCTTTACTTCATATCTTCACG	0.428																																					Ovarian(93;205 1446 2385 11581 25911)	ENST00000446656.3																			0				breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9						c.(412-414)tcA>tcT		monoacylglycerol O-acyltransferase 1							191.0	176.0	181.0					2																	223554124		1936	4131	6067	SO:0001819	synonymous_variant	116255				glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	g.chr2:223554124A>T	AF384163	CCDS46524.1	2q36.2	2006-10-06	2004-05-28	2004-05-28	ENSG00000124003	ENSG00000124003			18210	protein-coding gene	gene with protein product		610268	"""diacylglycerol O-acyltransferase 2 like 1"""	DGAT2L1		14970677	Standard	NM_058165		Approved	DGAT2L, MGAT1	uc010fws.1	Q96PD6	OTTHUMG00000153394	ENST00000446656.3:c.414A>T	2.37:g.223554124A>T							p.S138S	NM_058165.2	NP_477513.2	Q96PD6	MOGT1_HUMAN		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)	3	414	+		Renal(207;0.0183)	138					Q6IEE5	Silent	SNP	ENST00000446656.3	37	c.414A>T	CCDS46524.1																																																																																				0.428	MOGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331010.3	NM_058165		18	54	0	0	0	1	0	18	54				
SLC47A1	55244	broad.mit.edu	37	17	19480696	19480696	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr17:19480696C>A	ENST00000270570.4	+	17	1629	c.1543C>A	c.(1543-1545)Cct>Act	p.P515T	RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000457293.1_Missense_Mutation_p.P515T|SLC47A1_ENST00000395585.1_Missense_Mutation_p.P515T|SLC47A1_ENST00000571335.1_Missense_Mutation_p.P261T|AC025627.7_ENST00000420951.1_RNA|SLC47A1_ENST00000436810.2_3'UTR|SLC47A1_ENST00000575023.1_Missense_Mutation_p.P213T	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	515					organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	GACAGGCGAGCCTCAGTCAGA	0.498																																						ENST00000270570.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(1543-1545)Cct>Act		solute carrier family 47 (multidrug and toxin extrusion), member 1							105.0	105.0	105.0					17																	19480696		2203	4300	6503	SO:0001583	missense	55244					integral to membrane|plasma membrane	drug:hydrogen antiporter activity	g.chr17:19480696C>A		CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"""Solute carriers"""	25588	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 1"""	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.1543C>A	17.37:g.19480696C>A	ENSP00000270570:p.Pro515Thr					RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000457293.1_Missense_Mutation_p.P515T|SLC47A1_ENST00000575023.1_Missense_Mutation_p.P213T|SLC47A1_ENST00000395585.1_Missense_Mutation_p.P515T|SLC47A1_ENST00000436810.2_3'UTR|SLC47A1_ENST00000571335.1_Missense_Mutation_p.P261T	p.P515T	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN			17	1629	+	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)		515					Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Missense_Mutation	SNP	ENST00000270570.4	37	c.1543C>A	CCDS11209.1	.	.	.	.	.	.	.	.	.	.	c	0.187	-1.056852	0.01965	.	.	ENSG00000142494	ENST00000270570;ENST00000457293;ENST00000395585;ENST00000455670;ENST00000424755	T;T;T	0.28454	1.62;1.61;1.61	5.16	-7.6	0.01303	.	2.503060	0.01075	N	0.004883	T	0.06735	0.0172	N	0.00538	-1.39	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.21484	-1.0244	10	0.10377	T	0.69	-6.0846	3.1834	0.06592	0.3317:0.2031:0.3661:0.0992	.	190;190;515;515	E7ENC3;B4DDH5;Q96FL8;Q96FL8-3	.;.;S47A1_HUMAN;.	T	515;515;515;190;227	ENSP00000270570:P515T;ENSP00000415586:P515T;ENSP00000378951:P515T	ENSP00000270570:P515T	P	+	1	0	SLC47A1	19421288	0.004000	0.15560	0.000000	0.03702	0.000000	0.00434	-0.271000	0.08572	-2.829000	0.00340	-3.244000	0.00051	CCT		0.498	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132250.1	NM_018242		26	62	1	0	1.64293e-13	1	2.18573e-13	26	62				
KCNJ12	3768	broad.mit.edu	37	17	21319644	21319644	+	Silent	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr17:21319644G>T	ENST00000583088.1	+	3	1885	c.990G>T	c.(988-990)gtG>gtT	p.V330V	KCNJ12_ENST00000331718.5_Silent_p.V330V	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	330					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	TTGAGCCCGTGCTCTTCGAGG	0.587										Prostate(3;0.18)																												ENST00000583088.1																			0				NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70						c.(988-990)gtG>gtT		potassium inwardly-rectifying channel, subfamily J, member 12							148.0	150.0	150.0					17																	21319644		2203	4300	6503	SO:0001819	synonymous_variant	3768							g.chr17:21319644G>T	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.990G>T	17.37:g.21319644G>T		Prostate(3;0.18)				KCNJ12_ENST00000331718.5_Silent_p.V330V	p.V330V	NM_021012.4	NP_066292.2				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1885	+								O43401|Q15756|Q8NG63	Silent	SNP	ENST00000583088.1	37	c.990G>T	CCDS11219.1																																																																																				0.587	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		11	163	1	0	1.58986e-06	1	1.77044e-06	11	163				
PKN2	5586	broad.mit.edu	37	1	89271325	89271325	+	Silent	SNP	A	A	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:89271325A>T	ENST00000370521.3	+	11	2006	c.1647A>T	c.(1645-1647)gtA>gtT	p.V549V	PKN2_ENST00000370513.5_Silent_p.V501V|PKN2_ENST00000544045.1_Silent_p.V223V|PKN2_ENST00000370505.3_Silent_p.V392V|PKN2_ENST00000316005.7_Silent_p.V549V	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	549					apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		TGGTTGATGTACGCATCCCTC	0.448																																						ENST00000370521.3																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33						c.(1645-1647)gtA>gtT		protein kinase N2							58.0	56.0	57.0					1																	89271325		1979	4175	6154	SO:0001819	synonymous_variant	5586				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity	g.chr1:89271325A>T	U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"""cardiolipin-activated protein kinase Pak2"""	602549	"""protein kinase C-like 2"""	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.1647A>T	1.37:g.89271325A>T						PKN2_ENST00000370513.5_Silent_p.V501V|PKN2_ENST00000544045.1_Silent_p.V223V|PKN2_ENST00000316005.7_Silent_p.V549V|PKN2_ENST00000370505.3_Silent_p.V392V	p.V549V	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN		all cancers(265;0.0136)|Epithelial(280;0.0301)	11	2006	+		Lung NSC(277;0.123)	549					B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Silent	SNP	ENST00000370521.3	37	c.1647A>T	CCDS714.1																																																																																				0.448	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027828.3	NM_006256		9	26	0	0	0	1	0	9	26				
IQUB	154865	broad.mit.edu	37	7	123104904	123104904	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:123104904C>A	ENST00000466202.1	-	10	2317	c.1741G>T	c.(1741-1743)Gtt>Ttt	p.V581F	IQUB_ENST00000434450.1_Missense_Mutation_p.V581F|IQUB_ENST00000324698.6_Missense_Mutation_p.V581F	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	581					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TATTTTGCAACTTCAGGATTA	0.303																																						ENST00000466202.1																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						c.(1741-1743)Gtt>Ttt		IQ motif and ubiquitin domain containing							79.0	86.0	84.0					7																	123104904		2203	4298	6501	SO:0001583	missense	154865							g.chr7:123104904C>A	AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.1741G>T	7.37:g.123104904C>A	ENSP00000417769:p.Val581Phe					IQUB_ENST00000324698.6_Missense_Mutation_p.V581F|IQUB_ENST00000434450.1_Missense_Mutation_p.V581F	p.V581F			Q8NA54	IQUB_HUMAN			10	2317	-			581					A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Missense_Mutation	SNP	ENST00000466202.1	37	c.1741G>T	CCDS5787.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.108870	0.77096	.	.	ENSG00000164675	ENST00000466202;ENST00000324698;ENST00000434450	T;T;T	0.52983	1.74;1.74;0.64	5.32	5.32	0.75619	.	0.054269	0.64402	D	0.000001	T	0.69922	0.3165	M	0.75447	2.3	0.50313	D	0.999863	D;D	0.76494	0.999;0.994	D;D	0.71414	0.973;0.938	T	0.72795	-0.4185	10	0.72032	D	0.01	.	19.3499	0.94379	0.0:1.0:0.0:0.0	.	581;581	Q8NA54-2;Q8NA54	.;IQUB_HUMAN	F	581	ENSP00000417769:V581F;ENSP00000324882:V581F;ENSP00000388498:V581F	ENSP00000324882:V581F	V	-	1	0	IQUB	122892140	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	5.383000	0.66219	2.654000	0.90174	0.579000	0.79373	GTT		0.303	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827		30	62	1	0	1.39806e-14	1	1.9049e-14	30	62				
C8orf31	286122	broad.mit.edu	37	8	144130634	144130634	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr8:144130634C>G	ENST00000395172.1	+	5	716	c.364C>G	c.(364-366)Cgg>Ggg	p.R122G	C8orf31_ENST00000517653.1_3'UTR	NM_173687.2	NP_775958.1	Q8N9H6	CH031_HUMAN	chromosome 8 open reading frame 31	122								p.R122R(1)		breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					aggattctctcggcaccacgg	0.512																																						ENST00000395172.1																			1	Substitution - coding silent(1)	p.R122R(1)	large_intestine(1)	breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10						c.(364-366)Cgg>Ggg		chromosome 8 open reading frame 31							169.0	135.0	146.0					8																	144130634		2203	4300	6503	SO:0001583	missense	286122							g.chr8:144130634C>G		CCDS6395.1	8q24.3	2012-04-11			ENSG00000177335	ENSG00000177335			26731	protein-coding gene	gene with protein product							Standard	NM_173687		Approved	FLJ37131	uc003yxp.1	Q8N9H6	OTTHUMG00000164771	ENST00000395172.1:c.364C>G	8.37:g.144130634C>G	ENSP00000378601:p.Arg122Gly					C8orf31_ENST00000517653.1_3'UTR	p.R122G	NM_173687.2	NP_775958.1	Q8N9H6	CH031_HUMAN			5	716	+	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		122					Q6GMU7	Missense_Mutation	SNP	ENST00000395172.1	37	c.364C>G	CCDS6395.1	.	.	.	.	.	.	.	.	.	.	c	0.361	-0.939431	0.02322	.	.	ENSG00000177335	ENST00000395172	T	0.56275	0.47	0.113	0.113	0.14631	.	.	.	.	.	T	0.32556	0.0833	N	0.08118	0	0.09310	N	1	P	0.42785	0.79	B	0.43838	0.433	T	0.19976	-1.0289	8	0.87932	D	0	.	.	.	.	.	122	Q8N9H6	CH031_HUMAN	G	122	ENSP00000378601:R122G	ENSP00000378601:R122G	R	+	1	2	C8orf31	144202009	0.013000	0.17824	0.017000	0.16124	0.017000	0.09413	0.184000	0.16939	0.183000	0.20059	0.186000	0.17326	CGG		0.512	C8orf31-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380167.1	NM_173687		25	27	0	0	0	1	0	25	27				
PER3	8863	broad.mit.edu	37	1	7895935	7895935	+	Missense_Mutation	SNP	G	G	A	rs550440452		TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:7895935G>A	ENST00000361923.2	+	19	3476	c.3301G>A	c.(3301-3303)Gaa>Aaa	p.E1101K	PER3_ENST00000377532.3_Missense_Mutation_p.E1110K	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	1101					circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TAATGTCGCCGAAGAGCCCAT	0.418																																						ENST00000377532.3																			0				breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39						c.(3328-3330)Gaa>Aaa		period circadian clock 3							78.0	74.0	75.0					1																	7895935		2203	4300	6503	SO:0001583	missense	8863				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr1:7895935G>A	BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"""period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)"""			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.3301G>A	1.37:g.7895935G>A	ENSP00000355031:p.Glu1101Lys					PER3_ENST00000361923.2_Missense_Mutation_p.E1101K	p.E1110K			P56645	PER3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)	19	3552	+	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	1101					Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	ENST00000361923.2	37	c.3328G>A	CCDS89.1	.	.	.	.	.	.	.	.	.	.	G	6.519	0.463973	0.12402	.	.	ENSG00000049246	ENST00000377532;ENST00000361923;ENST00000539773	T;T	0.14144	2.53;2.53	3.99	1.89	0.25635	Period circadian-like, C-terminal (1);	0.521247	0.19681	N	0.108507	T	0.12689	0.0308	L	0.47190	1.495	0.09310	N	1	D;P;P	0.58268	0.982;0.91;0.927	P;B;B	0.47786	0.557;0.209;0.313	T	0.15321	-1.0441	10	0.52906	T	0.07	.	1.57	0.02612	0.1293:0.2367:0.4242:0.2098	.	150;1110;1101	B4DR65;P56645-2;P56645	.;.;PER3_HUMAN	K	1110;1101;294	ENSP00000366755:E1110K;ENSP00000355031:E1101K	ENSP00000355031:E1101K	E	+	1	0	PER3	7818522	0.210000	0.23517	0.011000	0.14972	0.040000	0.13550	1.237000	0.32695	0.871000	0.35750	0.563000	0.77884	GAA		0.418	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831		13	42	0	0	0	1	0	13	42				
WHSC1	7468	broad.mit.edu	37	4	1980436	1980436	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:1980436C>A	ENST00000382895.3	+	24	4329	c.3898C>A	c.(3898-3900)Ccc>Acc	p.P1300T	WHSC1_ENST00000382891.5_Missense_Mutation_p.P1300T|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000508803.1_Missense_Mutation_p.P1300T|WHSC1_ENST00000382888.3_Missense_Mutation_p.P648T|WHSC1_ENST00000382892.2_Missense_Mutation_p.P1300T	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	1300					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)		CCACCTCTGCCCCAATTCGTT	0.562			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.(3898-3900)Ccc>Acc		Wolf-Hirschhorn syndrome candidate 1							88.0	84.0	86.0					4																	1980436		2203	4300	6503	SO:0001583	missense	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.chr4:1980436C>A	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.3898C>A	4.37:g.1980436C>A	ENSP00000372351:p.Pro1300Thr					WHSC1_ENST00000508803.1_Missense_Mutation_p.P1300T|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Missense_Mutation_p.P648T|WHSC1_ENST00000382891.5_Missense_Mutation_p.P1300T|WHSC1_ENST00000382892.2_Missense_Mutation_p.P1300T	p.P1300T	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	24	4329	+		all_epithelial(65;1.34e-05)	1300					A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	37	c.3898C>A	CCDS33940.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.284329	0.59867	.	.	ENSG00000109685	ENST00000508803;ENST00000382891;ENST00000382892;ENST00000382895;ENST00000382888	D;D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87;-1.87	5.19	4.35	0.52113	.	0.108010	0.41605	D	0.000846	D	0.88851	0.6549	L	0.41961	1.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.992;0.997	D	0.89238	0.3582	10	0.56958	D	0.05	.	13.587	0.61937	0.0:0.9256:0.0:0.0744	.	648;1300	A2A2T2;O96028	.;NSD2_HUMAN	T	1300;1300;1300;1300;648	ENSP00000423972:P1300T;ENSP00000372347:P1300T;ENSP00000372348:P1300T;ENSP00000372351:P1300T;ENSP00000372344:P648T	ENSP00000372344:P648T	P	+	1	0	WHSC1	1950234	1.000000	0.71417	1.000000	0.80357	0.307000	0.27823	7.573000	0.82421	1.411000	0.46957	0.655000	0.94253	CCC		0.562	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		10	24	1	0	3.86212e-05	1	4.12753e-05	10	24				
OPRK1	4986	broad.mit.edu	37	8	54147356	54147356	+	Silent	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr8:54147356G>T	ENST00000265572.3	-	3	870	c.573C>A	c.(571-573)atC>atA	p.I191I	RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000524278.1_Silent_p.I102I|OPRK1_ENST00000520287.1_Silent_p.I191I	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	191					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)	p.I191I(1)		NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CTATTGCAGAGATGCCAACAG	0.448																																						ENST00000265572.3																			1	Substitution - coding silent(1)	p.I191I(1)	skin(1)	NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43						c.(571-573)atC>atA		opioid receptor, kappa 1	Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)						107.0	100.0	103.0					8																	54147356		2203	4300	6503	SO:0001819	synonymous_variant	4986				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding	g.chr8:54147356G>T		CCDS6152.1, CCDS64895.1	8q11.2	2014-05-21			ENSG00000082556	ENSG00000082556		"""GPCR / Class A : Opioid receptors"""	8154	protein-coding gene	gene with protein product		165196				8188308	Standard	XM_005251252		Approved	KOR, OPRK	uc003xri.1	P41145	OTTHUMG00000164276	ENST00000265572.3:c.573C>A	8.37:g.54147356G>T						RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000520287.1_Silent_p.I191I|OPRK1_ENST00000524278.1_Silent_p.I102I	p.I191I	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN			3	870	-		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)	191					E5RHC9|Q499G4	Silent	SNP	ENST00000265572.3	37	c.573C>A	CCDS6152.1																																																																																				0.448	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378048.1			24	92	1	0	2.21704e-12	1	2.90664e-12	24	92				
PLCL2	23228	broad.mit.edu	37	3	17051331	17051331	+	Silent	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:17051331C>T	ENST00000418129.2	+	2	580	c.115C>T	c.(115-117)Ctg>Ttg	p.L39L	PLCL2_ENST00000396755.2_Silent_p.L39L|PLCL2_ENST00000432376.1_Silent_p.L39L|PLCL2_ENST00000460467.1_3'UTR	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	165	Gly-rich.				B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GTACTTTTTACTGGATGCTGA	0.403																																						ENST00000418129.2																			0				breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						c.(115-117)Ctg>Ttg		phospholipase C-like 2							68.0	66.0	66.0					3																	17051331		2203	4300	6503	SO:0001819	synonymous_variant	23228				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:17051331C>T	AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"""phospholipase C, epsilon 2"""	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.115C>T	3.37:g.17051331C>T						PLCL2_ENST00000432376.1_Silent_p.L39L|PLCL2_ENST00000460467.1_3'UTR|PLCL2_ENST00000396755.2_Silent_p.L39L	p.L39L	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN			2	580	+			165			Gly-rich.		A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Silent	SNP	ENST00000418129.2	37	c.115C>T	CCDS33713.1																																																																																				0.403	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3			10	56	0	0	0	1	0	10	56				
AKR1D1	6718	broad.mit.edu	37	7	137790055	137790055	+	Silent	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:137790055G>T	ENST00000242375.3	+	5	501	c.459G>T	c.(457-459)gcG>gcT	p.A153A	AKR1D1_ENST00000468877.2_3'UTR|AKR1D1_ENST00000411726.2_Intron|AKR1D1_ENST00000432161.1_Silent_p.A153A	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	153					androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|C21-steroid hormone metabolic process (GO:0008207)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|steroid binding (GO:0005496)			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23					Azelaic Acid(DB00548)|Finasteride(DB01216)	CTCTACAGGCGATGGAAGCTT	0.453																																						ENST00000242375.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						c.(457-459)gcG>gcT		aldo-keto reductase family 1, member D1							120.0	129.0	126.0					7																	137790055		2203	4300	6503	SO:0001819	synonymous_variant	6718				androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding	g.chr7:137790055G>T	Z28339	CCDS5846.1, CCDS55169.1, CCDS55170.1	7q32-q33	2012-12-04	2012-12-04		ENSG00000122787	ENSG00000122787	1.3.99.6	"""Aldo-keto reductases"""	388	protein-coding gene	gene with protein product	"""delta 4-3-ketosteroid-5-beta-reductase"""	604741	"""aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase)"""	SRD5B1		7508385, 10343119	Standard	NM_005989		Approved		uc003vtz.3	P51857	OTTHUMG00000155787	ENST00000242375.3:c.459G>T	7.37:g.137790055G>T						AKR1D1_ENST00000432161.1_Silent_p.A153A|AKR1D1_ENST00000411726.2_Intron|AKR1D1_ENST00000468877.2_3'UTR	p.A153A	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN			5	501	+			153					A1L4P6|A8K060|B4DPN3|B4DPN8	Silent	SNP	ENST00000242375.3	37	c.459G>T	CCDS5846.1																																																																																				0.453	AKR1D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341637.1	NM_005989		48	116	1	0	2.24722e-20	1	3.1771e-20	48	116				
FGF12	2257	broad.mit.edu	37	3	192125893	192125893	+	Silent	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:192125893C>T	ENST00000454309.2	-	1	945	c.120G>A	c.(118-120)ctG>ctA	p.L40L	FGF12_ENST00000430714.1_Intron|FGF12_ENST00000450716.1_Intron|FGF12_ENST00000445105.2_Intron|FGF12_ENST00000264730.3_Intron	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	40					adult locomotory behavior (GO:0008344)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell-cell signaling (GO:0007267)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|JNK cascade (GO:0007254)|negative regulation of cation channel activity (GO:2001258)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|regulation of membrane depolarization (GO:0003254)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)	p.L40L(1)		endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		GCCTCTCGCACAGGGAGCGCC	0.672																																						ENST00000454309.2																			1	Substitution - coding silent(1)	p.L40L(1)	lung(1)	endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30						c.(118-120)ctG>ctA		fibroblast growth factor 12							62.0	72.0	69.0					3																	192125893		2196	4278	6474	SO:0001819	synonymous_variant	2257				cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding	g.chr3:192125893C>T	U66197	CCDS3301.1, CCDS46983.1	3q28	2008-07-18			ENSG00000114279	ENSG00000114279			3668	protein-coding gene	gene with protein product	"""fibroblast growth factor 12B"", ""fibroblast growth factor homologous factor 1"", ""myocyte-activating factor"", ""fibroblast growth factor FGF-12b"""	601513		FGF12B		8790420, 9345906	Standard	NM_021032		Approved	FHF1	uc003fsx.3	P61328	OTTHUMG00000156132	ENST00000454309.2:c.120G>A	3.37:g.192125893C>T						FGF12_ENST00000430714.1_Intron|FGF12_ENST00000450716.1_Intron|FGF12_ENST00000264730.3_Intron|FGF12_ENST00000445105.1_Intron	p.L40L	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)	1	945	-	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	40					B2R6B7|B2R976|O35339|P70376|Q8TBG5|Q92912|Q93001	Silent	SNP	ENST00000454309.2	37	c.120G>A	CCDS3301.1																																																																																				0.672	FGF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343160.1	NM_021032		31	94	0	0	0	1	0	31	94				
SPOCK3	50859	broad.mit.edu	37	4	167663155	167663155	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:167663155C>A	ENST00000357154.3	-	10	1133	c.996G>T	c.(994-996)aaG>aaT	p.K332N	SPOCK3_ENST00000541637.1_Missense_Mutation_p.K234N|SPOCK3_ENST00000535728.1_Missense_Mutation_p.K200N|SPOCK3_ENST00000502330.1_Missense_Mutation_p.K332N|SPOCK3_ENST00000511269.1_Missense_Mutation_p.K329N|SPOCK3_ENST00000541354.1_Missense_Mutation_p.K212N|SPOCK3_ENST00000510741.1_Missense_Mutation_p.K289N|SPOCK3_ENST00000511531.1_Missense_Mutation_p.K332N|SPOCK3_ENST00000504953.1_Missense_Mutation_p.K329N|SPOCK3_ENST00000512681.1_Missense_Mutation_p.K234N|SPOCK3_ENST00000421836.2_Missense_Mutation_p.K281N|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000357545.4_Missense_Mutation_p.K329N|SPOCK3_ENST00000534949.1_Missense_Mutation_p.K236N|SPOCK3_ENST00000506886.1_Missense_Mutation_p.K332N	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	332	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		CACCTAGGAGCTTCTTTACCC	0.378																																						ENST00000357154.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38						c.(994-996)aaG>aaT		sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3							127.0	129.0	128.0					4																	167663155		2203	4300	6503	SO:0001583	missense	50859				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	g.chr4:167663155C>A	AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.996G>T	4.37:g.167663155C>A	ENSP00000349677:p.Lys332Asn					SPOCK3_ENST00000357545.4_Missense_Mutation_p.K329N|SPOCK3_ENST00000510741.1_Missense_Mutation_p.K289N|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000512681.1_Missense_Mutation_p.K234N|SPOCK3_ENST00000506886.1_Missense_Mutation_p.K332N|SPOCK3_ENST00000511531.1_Missense_Mutation_p.K332N|SPOCK3_ENST00000504953.1_Missense_Mutation_p.K329N|SPOCK3_ENST00000541637.1_Missense_Mutation_p.K234N|SPOCK3_ENST00000421836.2_Missense_Mutation_p.K281N|SPOCK3_ENST00000511269.1_Missense_Mutation_p.K329N|SPOCK3_ENST00000541354.1_Missense_Mutation_p.K212N|SPOCK3_ENST00000535728.1_Missense_Mutation_p.K200N|SPOCK3_ENST00000502330.1_Missense_Mutation_p.K332N|SPOCK3_ENST00000534949.1_Missense_Mutation_p.K236N	p.K332N	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN		GBM - Glioblastoma multiforme(119;0.02)	10	1133	-	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)	332			Thyroglobulin type-1.		B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Missense_Mutation	SNP	ENST00000357154.3	37	c.996G>T	CCDS54817.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.751528	0.31046	.	.	ENSG00000196104	ENST00000357154;ENST00000357545;ENST00000504953;ENST00000506886;ENST00000511531;ENST00000502330;ENST00000510741;ENST00000541354;ENST00000512681;ENST00000511269;ENST00000535728;ENST00000421836;ENST00000541637;ENST00000534949	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;0.97;-0.05;-0.05;-0.05;-0.05;-0.05;0.97	5.23	3.51	0.40186	Thyroglobulin type-1 (4);	0.098474	0.64402	D	0.000002	T	0.63686	0.2532	N	0.21373	0.66	0.53005	D	0.999964	D;D;B;D;D;D;D	0.89917	1.0;1.0;0.392;1.0;1.0;0.996;1.0	D;D;B;D;D;D;D	0.91635	0.999;0.999;0.348;0.998;0.998;0.944;0.998	T	0.61392	-0.7072	10	0.42905	T	0.14	-28.8067	9.2879	0.37769	0.0:0.7864:0.0:0.2136	.	234;236;281;341;289;329;332	B4DGK5;F5H099;B4DHB4;B4DFW5;E7EP61;Q9BQ16-1;Q9BQ16	.;.;.;.;.;.;TICN3_HUMAN	N	332;329;329;332;332;332;289;212;234;329;200;281;234;236	ENSP00000349677:K332N;ENSP00000350153:K329N;ENSP00000425570:K329N;ENSP00000420920:K332N;ENSP00000423421:K332N;ENSP00000423606:K332N;ENSP00000426716:K289N;ENSP00000444789:K212N;ENSP00000426318:K234N;ENSP00000425502:K329N;ENSP00000441396:K200N;ENSP00000411344:K281N;ENSP00000445430:K234N;ENSP00000438142:K236N	ENSP00000349677:K332N	K	-	3	2	SPOCK3	167899730	1.000000	0.71417	1.000000	0.80357	0.096000	0.18686	0.713000	0.25794	0.707000	0.31934	0.643000	0.83706	AAG		0.378	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364091.1			32	58	1	0	9.93527e-08	1	1.14599e-07	32	58				
SLA	6503	broad.mit.edu	37	8	134057291	134057291	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr8:134057291C>A	ENST00000338087.5	-	7	1241	c.422G>T	c.(421-423)tGg>tTg	p.W141L	TG_ENST00000220616.4_Intron|TG_ENST00000377869.1_Intron|TG_ENST00000542445.1_Intron|SLA_ENST00000517648.1_Intron|SLA_ENST00000427060.2_Missense_Mutation_p.W181L|SLA_ENST00000395352.3_Missense_Mutation_p.W158L|TG_ENST00000519543.1_Intron|SLA_ENST00000524345.1_Missense_Mutation_p.W33L	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	141	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				positive regulation of signal transduction (GO:0009967)	endosome (GO:0005768)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			AATGTAGTACCAGTTGTTGGG	0.512																																						ENST00000338087.5																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17						c.(421-423)tGg>tTg		Src-like-adaptor							197.0	164.0	175.0					8																	134057291		2203	4300	6503	SO:0001583	missense	6503					endosome	SH3/SH2 adaptor activity	g.chr8:134057291C>A		CCDS6370.1, CCDS47922.1, CCDS47923.1, CCDS64977.1, CCDS64978.1	8q24.22	2013-09-19	2001-11-28		ENSG00000155926	ENSG00000155926		"""SH2 domain containing"""	10902	protein-coding gene	gene with protein product		601099	"""Src-like-adapter"""			8825655, 11179692	Standard	NM_001045556		Approved	SLA1	uc011ljd.2	Q13239	OTTHUMG00000164439	ENST00000338087.5:c.422G>T	8.37:g.134057291C>A	ENSP00000337548:p.Trp141Leu					SLA_ENST00000395352.3_Missense_Mutation_p.W158L|TG_ENST00000377869.1_Intron|TG_ENST00000519543.1_Intron|TG_ENST00000542445.1_Intron|SLA_ENST00000524345.1_Missense_Mutation_p.W33L|SLA_ENST00000517648.1_Intron|SLA_ENST00000427060.2_Missense_Mutation_p.W181L|TG_ENST00000220616.4_Intron	p.W141L	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)		7	1241	-	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	141			SH2.		B7Z4J2|B7Z4L6|Q6FI01|Q9UMQ8	Missense_Mutation	SNP	ENST00000338087.5	37	c.422G>T	CCDS6370.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759141	0.89843	.	.	ENSG00000155926	ENST00000338087;ENST00000427060;ENST00000395352;ENST00000524345;ENST00000522119	D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33	5.71	5.71	0.89125	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.90304	0.6967	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.90974	0.4822	10	0.66056	D	0.02	-18.2426	17.3306	0.87262	0.0:1.0:0.0:0.0	.	141;141;141	Q6FI01;Q5TZW1;Q13239	.;.;SLAP1_HUMAN	L	141;181;158;33;141	ENSP00000337548:W141L;ENSP00000394049:W181L;ENSP00000378759:W158L;ENSP00000427928:W33L;ENSP00000430596:W141L	ENSP00000337548:W141L	W	-	2	0	SLA	134126473	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.137000	0.77295	2.702000	0.92279	0.561000	0.74099	TGG		0.512	SLA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378771.1			12	47	1	0	0.010729	1	0.0109475	12	47				
EML4	27436	broad.mit.edu	37	2	42472706	42472706	+	Silent	SNP	A	A	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:42472706A>G	ENST00000318522.5	+	2	349	c.87A>G	c.(85-87)tcA>tcG	p.S29S	EML4_ENST00000482660.1_3'UTR|EML4_ENST00000402711.2_Silent_p.S29S|EML4_ENST00000401738.3_Silent_p.S29S	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	29					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)			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						CTCTTGAGTCACGAGTTCAGC	0.383			T	ALK	NSCLC																																	ENST00000318522.5				Dom	yes		2	2p21	27436	T	echinoderm microtubule associated protein like 4			E	ALK		NSCLC	EML4/ALK(543)	0				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.(85-87)tcA>tcG		echinoderm microtubule associated protein like 4							107.0	96.0	100.0					2																	42472706		2203	4300	6503	SO:0001819	synonymous_variant	27436				microtubule-based process|mitosis	cytoplasm|microtubule	protein binding	g.chr2:42472706A>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.87A>G	2.37:g.42472706A>G						EML4_ENST00000402711.2_Silent_p.S29S|EML4_ENST00000401738.3_Silent_p.S29S|EML4_ENST00000482660.1_3'UTR	p.S29S	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN			2	349	+			29					A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Silent	SNP	ENST00000318522.5	37	c.87A>G	CCDS1807.1																																																																																				0.383	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250463.3	NM_019063		17	36	0	0	0	1	0	17	36				
HMCN1	83872	broad.mit.edu	37	1	186060049	186060049	+	Splice_Site	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:186060049G>T	ENST00000271588.4	+	64	10116	c.9887G>T	c.(9886-9888)cGa>cTa	p.R3296L	HMCN1_ENST00000367492.2_Splice_Site_p.R3296L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3296	Ig-like C2-type 31.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAAAGAATCCGGTATGTTTAA	0.353																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.e64+1		hemicentin 1							61.0	62.0	62.0					1																	186060049		2203	4299	6502	SO:0001630	splice_region_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186060049G>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.9887+1G>T	1.37:g.186060049G>T						HMCN1_ENST00000367492.2_Splice_Site_p.R3296_splice	p.R3296_splice	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			64	10116	+			3296			Ig-like C2-type 31.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Splice_Site	SNP	ENST00000271588.4	37	c.9887_splice	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.946861	0.73672	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.67345	-0.26;-0.26	5.98	5.08	0.68730	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.197981	0.52532	D	0.000071	T	0.57446	0.2054	L	0.31371	0.925	0.50467	D	0.999877	P	0.45212	0.853	P	0.45881	0.496	T	0.53422	-0.8441	10	0.21540	T	0.41	.	11.3287	0.49463	0.1384:0.0:0.8616:0.0	.	3296	Q96RW7	HMCN1_HUMAN	L	3296	ENSP00000271588:R3296L;ENSP00000356462:R3296L	ENSP00000271588:R3296L	R	+	2	0	HMCN1	184326672	1.000000	0.71417	0.990000	0.47175	0.787000	0.44495	2.962000	0.49176	1.547000	0.49401	0.591000	0.81541	CGA		0.353	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	Missense_Mutation	14	53	1	0	7.93312e-07	1	8.92229e-07	14	53				
PTPRD	5789	broad.mit.edu	37	9	8636759	8636759	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr9:8636759G>T	ENST00000381196.4	-	10	693	c.150C>A	c.(148-150)gaC>gaA	p.D50E	PTPRD_ENST00000463477.1_Missense_Mutation_p.D50E|PTPRD_ENST00000356435.5_Missense_Mutation_p.D50E|PTPRD_ENST00000397606.3_Missense_Mutation_p.D50E|PTPRD_ENST00000397611.3_Missense_Mutation_p.D50E|PTPRD_ENST00000540109.1_Missense_Mutation_p.D50E|PTPRD_ENST00000537002.1_Missense_Mutation_p.D50E|PTPRD_ENST00000397617.3_Missense_Mutation_p.D50E|PTPRD_ENST00000360074.4_Missense_Mutation_p.D50E|PTPRD_ENST00000358503.5_Missense_Mutation_p.D50E|PTPRD_ENST00000355233.5_Missense_Mutation_p.D50E|PTPRD_ENST00000486161.1_Missense_Mutation_p.D50E	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	50	Ig-like C2-type 1.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TAGGTCTTGGGTCTCCCGTAG	0.443										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(148-150)gaC>gaA		protein tyrosine phosphatase, receptor type, D							107.0	106.0	106.0					9																	8636759		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8636759G>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.150C>A	9.37:g.8636759G>T	ENSP00000370593:p.Asp50Glu	TSP Lung(15;0.13)				PTPRD_ENST00000397606.3_Missense_Mutation_p.D50E|PTPRD_ENST00000397611.3_Missense_Mutation_p.D50E|PTPRD_ENST00000397617.3_Missense_Mutation_p.D50E|PTPRD_ENST00000463477.1_Missense_Mutation_p.D50E|PTPRD_ENST00000540109.1_Missense_Mutation_p.D50E|PTPRD_ENST00000360074.4_Missense_Mutation_p.D50E|PTPRD_ENST00000537002.1_Missense_Mutation_p.D50E|PTPRD_ENST00000358503.5_Missense_Mutation_p.D50E|PTPRD_ENST00000486161.1_Missense_Mutation_p.D50E|PTPRD_ENST00000356435.5_Missense_Mutation_p.D50E|PTPRD_ENST00000355233.5_Missense_Mutation_p.D50E	p.D50E	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	10	693	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	50			Ig-like C2-type 1.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.150C>A	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.655775	0.47467	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606;ENST00000463477;ENST00000481079	T;T;T;T;T;T;T;T;T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19	5.7	4.79	0.61399	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.66684	0.2814	L	0.33189	0.99	0.54753	D	0.999983	P;B;B;B;B;P;B;B;B;B	0.48016	0.843;0.001;0.0;0.0;0.001;0.904;0.001;0.005;0.277;0.0	D;B;B;B;B;B;B;B;B;B	0.63113	0.911;0.006;0.003;0.003;0.003;0.187;0.003;0.005;0.153;0.004	T	0.62431	-0.6856	9	.	.	.	.	13.0944	0.59184	0.1307:0.0:0.8693:0.0	.	50;50;50;50;50;50;50;50;50;50	C9J8S8;Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;.;PTPRD_HUMAN	E	50	ENSP00000370593:D50E;ENSP00000348812:D50E;ENSP00000353187:D50E;ENSP00000351293:D50E;ENSP00000347373:D50E;ENSP00000380741:D50E;ENSP00000380735:D50E;ENSP00000440515:D50E;ENSP00000438164:D50E;ENSP00000417093:D50E;ENSP00000380731:D50E;ENSP00000417661:D50E;ENSP00000417890:D50E	.	D	-	3	2	PTPRD	8626759	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.084000	0.41625	2.684000	0.91462	0.650000	0.86243	GAC		0.443	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			15	54	1	0	1.49906e-05	1	1.63699e-05	15	54				
MED12	9968	broad.mit.edu	37	X	70345277	70345277	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chrX:70345277G>T	ENST00000374080.3	+	16	2335	c.2303G>T	c.(2302-2304)cGc>cTc	p.R768L	MED12_ENST00000333646.6_Missense_Mutation_p.R768L|MED12_ENST00000374102.1_Missense_Mutation_p.R768L			Q93074	MED12_HUMAN	mediator complex subunit 12	768					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GATGATGCCCGCCATGCCATC	0.532			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"""M, S"""	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(2302-2304)cGc>cTc		mediator complex subunit 12							59.0	61.0	60.0					X																	70345277		2152	4237	6389	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70345277G>T	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.2303G>T	X.37:g.70345277G>T	ENSP00000363193:p.Arg768Leu					MED12_ENST00000374102.1_Missense_Mutation_p.R768L|MED12_ENST00000374080.3_Missense_Mutation_p.R768L	p.R768L	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			16	2502	+	Renal(35;0.156)		768					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.2303G>T	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	23.2	4.390691	0.82902	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.61742	0.08;0.08;0.08;0.08	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.73628	0.3611	M	0.63843	1.955	0.80722	D	1	D;D;D;D	0.71674	0.998;0.973;0.998;0.997	D;P;D;D	0.73708	0.981;0.742;0.978;0.928	T	0.76683	-0.2869	10	0.66056	D	0.02	-13.1979	17.3214	0.87238	0.0:0.0:1.0:0.0	.	768;615;768;768	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	L	768;768;768;768;736	ENSP00000333125:R768L;ENSP00000363215:R768L;ENSP00000363193:R768L;ENSP00000414203:R736L	ENSP00000333125:R768L	R	+	2	0	MED12	70262002	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.962000	0.93254	2.271000	0.75665	0.529000	0.55759	CGC		0.532	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		7	10	1	0	2.0095e-06	1	2.22674e-06	7	10				
IMPG2	50939	broad.mit.edu	37	3	100963523	100963523	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:100963523G>C	ENST00000193391.7	-	13	1839	c.1652C>G	c.(1651-1653)tCt>tGt	p.S551C		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	551					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	GGACACATCAGAGTCTTCCAT	0.393																																						ENST00000193391.7																			0				NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(1651-1653)tCt>tGt		interphotoreceptor matrix proteoglycan 2							134.0	120.0	125.0					3																	100963523		2203	4300	6503	SO:0001583	missense	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:100963523G>C	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.1652C>G	3.37:g.100963523G>C	ENSP00000193391:p.Ser551Cys						p.S551C	NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN			13	1839	-			551					A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	ENST00000193391.7	37	c.1652C>G	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.643899	0.47258	.	.	ENSG00000081148	ENST00000193391	T	0.32753	1.44	5.66	3.85	0.44370	.	0.467673	0.21973	N	0.066431	T	0.36580	0.0972	L	0.32530	0.975	0.28557	N	0.911349	D;D	0.71674	0.998;0.998	P;P	0.60173	0.87;0.87	T	0.16041	-1.0416	10	0.72032	D	0.01	-3.2996	8.1891	0.31357	0.0723:0.0:0.6482:0.2795	.	551;551	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	C	551	ENSP00000193391:S551C	ENSP00000193391:S551C	S	-	2	0	IMPG2	102446213	0.939000	0.31865	0.935000	0.37517	0.890000	0.51754	1.247000	0.32815	0.730000	0.32425	-0.182000	0.12963	TCT		0.393	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			36	85	0	0	0	1	0	36	85				
CFH	3075	broad.mit.edu	37	1	196709852	196709852	+	Silent	SNP	T	T	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:196709852T>A	ENST00000367429.4	+	18	3126	c.2886T>A	c.(2884-2886)ggT>ggA	p.G962G		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	962	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GTTTTGAAGGTTTTGGAATTG	0.373																																						ENST00000367429.4																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(2884-2886)ggT>ggA		complement factor H							148.0	139.0	142.0					1																	196709852		2203	4300	6503	SO:0001819	synonymous_variant	3075				complement activation, alternative pathway	extracellular space		g.chr1:196709852T>A	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.2886T>A	1.37:g.196709852T>A							p.G962G	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			18	3126	+			962			Sushi 16.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Silent	SNP	ENST00000367429.4	37	c.2886T>A	CCDS1385.1																																																																																				0.373	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		26	67	0	0	0	1	0	26	67				
MAB21L2	10586	broad.mit.edu	37	4	151504976	151504976	+	Silent	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:151504976C>A	ENST00000317605.4	+	1	1900	c.795C>A	c.(793-795)ccC>ccA	p.P265P	LRBA_ENST00000357115.3_Intron|LRBA_ENST00000507224.1_Intron|LRBA_ENST00000503716.1_5'Flank|LRBA_ENST00000535741.1_Intron|RP11-1336O20.2_ENST00000507934.1_RNA|LRBA_ENST00000510413.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	265					camera-type eye development (GO:0043010)|embryonic body morphogenesis (GO:0010172)|eye development (GO:0001654)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		TGGAGCTACCCGGCCAGCCGC	0.627																																						ENST00000317605.4																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21						c.(793-795)ccC>ccA		mab-21-like 2 (C. elegans)							52.0	52.0	52.0					4																	151504976		2203	4300	6503	SO:0001819	synonymous_variant	10586				nervous system development	nucleus		g.chr4:151504976C>A	AF155219	CCDS3774.1	4q31.3	2013-10-22	2001-11-28		ENSG00000181541	ENSG00000181541			6758	protein-coding gene	gene with protein product		604357	"""mab-21 (C. elegans)-like 2"""				Standard	NM_006439		Approved		uc003ilw.3	Q9Y586	OTTHUMG00000161442	ENST00000317605.4:c.795C>A	4.37:g.151504976C>A						LRBA_ENST00000507224.1_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000510413.1_Intron	p.P265P	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN		GBM - Glioblastoma multiforme(119;0.159)	1	1900	+	all_hematologic(180;0.151)		265					B3KP37|Q9HBA7	Silent	SNP	ENST00000317605.4	37	c.795C>A	CCDS3774.1																																																																																				0.627	MAB21L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364937.1	NM_006439		14	55	1	0	0.00185496	1	0.00192319	14	55				
PACS1	55690	broad.mit.edu	37	11	66008926	66008926	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr11:66008926A>G	ENST00000320580.4	+	22	2491	c.2458A>G	c.(2458-2460)Att>Gtt	p.I820V	PACS1_ENST00000524815.1_5'UTR|PACS1_ENST00000529757.1_Missense_Mutation_p.I356V	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	820					protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						TGGGGACGTGATTGGCCTCCA	0.592																																						ENST00000320580.4																		RBM14/PACS1(2)	0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						c.(2458-2460)Att>Gtt		phosphofurin acidic cluster sorting protein 1							41.0	32.0	35.0					11																	66008926		2199	4295	6494	SO:0001583	missense	55690				interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	g.chr11:66008926A>G	AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.2458A>G	11.37:g.66008926A>G	ENSP00000316454:p.Ile820Val					PACS1_ENST00000529757.1_Missense_Mutation_p.I356V|PACS1_ENST00000524815.1_5'UTR	p.I820V	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN			22	2491	+			820					Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Missense_Mutation	SNP	ENST00000320580.4	37	c.2458A>G	CCDS8129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.29|13.29	2.193137|2.193137	0.38707|0.38707	.|.	.|.	ENSG00000175115|ENSG00000175115	ENST00000529677|ENST00000320580;ENST00000529757	.|T;T	.|0.40225	.|1.04;1.04	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	.|0.154543	.|0.56097	.|D	.|0.000022	T|T	0.29556|0.29556	0.0737|0.0737	N|N	0.17800|0.17800	0.525|0.525	0.80722|0.80722	D|D	1|1	.|B	.|0.34349	.|0.45	.|B	.|0.40444	.|0.329	T|T	0.09122|0.09122	-1.0689|-1.0689	5|10	.|0.09843	.|T	.|0.71	-15.4052|-15.4052	10.8588|10.8588	0.46815|0.46815	0.8421:0.1579:0.0:0.0|0.8421:0.1579:0.0:0.0	.|.	.|820	.|Q6VY07	.|PACS1_HUMAN	G|V	3|820;356	.|ENSP00000316454:I820V;ENSP00000432858:I356V	.|ENSP00000316454:I820V	D|I	+|+	2|1	0|0	PACS1|PACS1	65765502|65765502	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.712000|0.712000	0.41017|0.41017	5.148000|5.148000	0.64857|0.64857	2.196000|2.196000	0.70406|0.70406	0.533000|0.533000	0.62120|0.62120	GAT|ATT		0.592	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026		6	45	0	0	0	1	0	6	45				
FBXO40	51725	broad.mit.edu	37	3	121342100	121342100	+	Silent	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:121342100C>A	ENST00000338040.4	+	3	2238	c.1824C>A	c.(1822-1824)gcC>gcA	p.A608A		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	608	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		ATATCTGTGCCACTTTGTTAC	0.507																																						ENST00000338040.4																			0				NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(1822-1824)gcC>gcA		F-box protein 40							71.0	67.0	69.0					3																	121342100		2203	4300	6503	SO:0001819	synonymous_variant	51725				muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding	g.chr3:121342100C>A	AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"""F-boxes /  ""other"""""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.1824C>A	3.37:g.121342100C>A							p.A608A	NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	3	2238	+			608			F-box.		B2RAX7|Q32M70|Q9ULM5	Silent	SNP	ENST00000338040.4	37	c.1824C>A	CCDS33835.1																																																																																				0.507	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355158.1	NM_016298		15	60	1	0	1.15088e-07	1	1.31737e-07	15	60				
SLITRK3	22865	broad.mit.edu	37	3	164908115	164908115	+	Silent	SNP	T	T	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:164908115T>A	ENST00000475390.1	-	2	947	c.504A>T	c.(502-504)gcA>gcT	p.A168A	SLITRK3_ENST00000241274.3_Silent_p.A168A			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	168					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GGTTCCGAAATGCCCCACTCT	0.383										HNSCC(40;0.11)																												ENST00000475390.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						c.(502-504)gcA>gcT		SLIT and NTRK-like family, member 3							71.0	68.0	69.0					3																	164908115		2203	4300	6503	SO:0001819	synonymous_variant	22865					integral to membrane		g.chr3:164908115T>A	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.504A>T	3.37:g.164908115T>A		HNSCC(40;0.11)				SLITRK3_ENST00000241274.3_Silent_p.A168A	p.A168A			O94933	SLIK3_HUMAN			2	947	-			168					Q1RMY6	Silent	SNP	ENST00000475390.1	37	c.504A>T	CCDS3197.1																																																																																				0.383	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		21	60	0	0	0	1	0	21	60				
DNAH11	8701	broad.mit.edu	37	7	21627744	21627744	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:21627744T>A	ENST00000409508.3	+	10	1804	c.1773T>A	c.(1771-1773)caT>caA	p.H591Q	DNAH11_ENST00000328843.6_Missense_Mutation_p.H591Q	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	591	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCAGCCTACATTACAGCACAC	0.368									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(1771-1773)caT>caA		dynein, axonemal, heavy chain 11							111.0	105.0	107.0					7																	21627744		1857	4108	5965	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21627744T>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.1773T>A	7.37:g.21627744T>A	ENSP00000475939:p.His591Gln					DNAH11_ENST00000409508.3_Missense_Mutation_p.H591Q	p.H591Q			Q96DT5	DYH11_HUMAN			10	1804	+			591			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.1773T>A		.	.	.	.	.	.	.	.	.	.	T	12.14	1.848616	0.32699	.	.	ENSG00000105877	ENST00000328843	T	0.55052	0.54	5.87	3.49	0.39957	Dynein heavy chain, domain-1 (1);	0.162517	0.51477	D	0.000095	T	0.38241	0.1033	.	.	.	0.32867	D	0.50878	P	0.38677	0.642	B	0.33121	0.158	T	0.53634	-0.8411	9	0.48119	T	0.1	.	8.7187	0.34428	0.0:0.2164:0.0:0.7836	.	591	Q96DT5	DYH11_HUMAN	Q	591	ENSP00000330671:H591Q	ENSP00000330671:H591Q	H	+	3	2	DNAH11	21594269	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	1.245000	0.32790	1.153000	0.42468	-0.264000	0.10439	CAT		0.368	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		7	22	0	0	0	1	0	7	22				
GRAMD4	23151	broad.mit.edu	37	22	47062734	47062734	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr22:47062734A>G	ENST00000406902.1	+	10	1035	c.822A>G	c.(820-822)atA>atG	p.I274M	GRAMD4_ENST00000361034.3_Missense_Mutation_p.I274M			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	274					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		GGTGGCGGATACAGTGGAGCA	0.622																																						ENST00000406902.1																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12						c.(820-822)atA>atG		GRAM domain containing 4							231.0	196.0	208.0					22																	47062734		2203	4300	6503	SO:0001583	missense	23151				apoptosis	integral to membrane|mitochondrial membrane		g.chr22:47062734A>G		CCDS33672.1	22q13.31	2008-03-03			ENSG00000075240	ENSG00000075240			29113	protein-coding gene	gene with protein product	"""death-inducing-protein"""	613691				15565177	Standard	NM_015124		Approved	KIAA0767, DIP	uc003bhx.3	Q6IC98	OTTHUMG00000150402	ENST00000406902.1:c.822A>G	22.37:g.47062734A>G	ENSP00000385689:p.Ile274Met					GRAMD4_ENST00000361034.3_Missense_Mutation_p.I274M	p.I274M			Q6IC98	GRAM4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)	10	1035	+		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)	274					A9IN51|A9IN57|Q68EN0|Q9UGE6|Q9Y4B9	Missense_Mutation	SNP	ENST00000406902.1	37	c.822A>G	CCDS33672.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	13.11|13.11	2.140136|2.140136	0.37825|0.37825	.|.	.|.	ENSG00000075240|ENSG00000075240	ENST00000406902;ENST00000361034|ENST00000456069	T;T|.	0.44083|.	0.93;0.93|.	4.79|4.79	-9.58|-9.58	0.00559|0.00559	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.36991|0.36991	0.0987|0.0987	L|L	0.36672|0.36672	1.1|1.1	0.31615|0.31615	N|N	0.650964|0.650964	D;D|.	0.89917|.	0.995;1.0|.	D;D|.	0.75484|.	0.984;0.986|.	T|T	0.47114|0.47114	-0.9142|-0.9142	10|5	0.45353|.	T|.	0.12|.	-22.5917|-22.5917	13.0558|13.0558	0.58980|0.58980	0.1988:0.6248:0.0:0.1764|0.1988:0.6248:0.0:0.1764	.|.	96;274|.	B0QZ08;Q6IC98|.	.;GRAM4_HUMAN|.	M|A	274|97	ENSP00000385689:I274M;ENSP00000354313:I274M|.	ENSP00000354313:I274M|.	I|T	+|+	3|1	3|0	GRAMD4|GRAMD4	45441398|45441398	0.042000|0.042000	0.20092|0.20092	0.598000|0.598000	0.28837|0.28837	0.631000|0.631000	0.37964|0.37964	-0.772000|-0.772000	0.04694|0.04694	-2.576000|-2.576000	0.00465|0.00465	-1.867000|-1.867000	0.00556|0.00556	ATA|ACA		0.622	GRAMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317969.1	NM_015124		22	66	0	0	0	1	0	22	66				
OR4Q3	441669	broad.mit.edu	37	14	20215674	20215674	+	Missense_Mutation	SNP	C	C	A	rs4494468	byFrequency	TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr14:20215674C>A	ENST00000331723.1	+	1	88	c.88C>A	c.(88-90)Cta>Ata	p.L30I		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	30						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTCTTCTTACTATTTTTGTT	0.378																																						ENST00000331723.1																			0				NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47						c.(88-90)Cta>Ata		olfactory receptor, family 4, subfamily Q, member 3							164.0	167.0	166.0					14																	20215674		2203	4300	6503	SO:0001583	missense	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20215674C>A	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.88C>A	14.37:g.20215674C>A	ENSP00000330049:p.Leu30Ile						p.L30I	NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	88	+	all_cancers(95;0.00108)		30					Q6IEX4	Missense_Mutation	SNP	ENST00000331723.1	37	c.88C>A	CCDS32020.1	.	.	.	.	.	.	.	.	.	.	.	0.074	-1.196358	0.01594	.	.	ENSG00000182652	ENST00000331723	T	0.16457	2.34	4.32	-8.64	0.00874	.	0.957035	0.08506	N	0.935633	T	0.06416	0.0165	N	0.17564	0.495	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.34925	-0.9809	10	0.18710	T	0.47	.	3.5275	0.07765	0.1395:0.3952:0.0785:0.3868	rs4494468;rs4494468	30	Q8NH05	OR4Q3_HUMAN	I	30	ENSP00000330049:L30I	ENSP00000330049:L30I	L	+	1	2	OR4Q3	19285514	0.000000	0.05858	0.003000	0.11579	0.699000	0.40488	-2.792000	0.00766	-1.380000	0.02115	-1.348000	0.01239	CTA		0.378	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			33	115	1	0	1.1423e-28	1	1.63549e-28	33	115				
SYTL5	94122	broad.mit.edu	37	X	37913470	37913470	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chrX:37913470C>A	ENST00000357972.5	+	3	670	c.124C>A	c.(124-126)Ctg>Atg	p.L42M	TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Missense_Mutation_p.L42M|SYTL5_ENST00000456733.2_Missense_Mutation_p.L42M			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	42	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						TTTCAGGAAGCTGAAAAATGA	0.358																																						ENST00000357972.5																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						c.(124-126)Ctg>Atg		synaptotagmin-like 5							45.0	41.0	42.0					X																	37913470		2202	4299	6501	SO:0001583	missense	94122				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding	g.chrX:37913470C>A		CCDS14244.1, CCDS55399.1	Xp21.1	2008-02-05			ENSG00000147041	ENSG00000147041			15589	protein-coding gene	gene with protein product	"""exophilin 9"""						Standard	NM_138780		Approved		uc004ddx.3	Q8TDW5	OTTHUMG00000033176	ENST00000357972.5:c.124C>A	X.37:g.37913470C>A	ENSP00000350657:p.Leu42Met					SYTL5_ENST00000297875.2_Missense_Mutation_p.L42M|SYTL5_ENST00000456733.2_Missense_Mutation_p.L42M|TM4SF2_ENST00000465127.1_Intron	p.L42M			Q8TDW5	SYTL5_HUMAN			3	670	+			42			RabBD.		A2RRF2	Missense_Mutation	SNP	ENST00000357972.5	37	c.124C>A	CCDS14244.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.805997	0.50421	.	.	ENSG00000147041	ENST00000297875;ENST00000357972;ENST00000456733	D;D;D	0.82893	-1.66;-1.66;-1.66	5.72	0.364	0.16124	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE/PHD-type (1);	0.073890	0.56097	D	0.000039	D	0.86768	0.6012	L	0.55017	1.72	0.25626	N	0.986356	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.79403	-0.1818	10	0.87932	D	0	-19.7452	10.9776	0.47475	0.0:0.4425:0.0:0.5575	.	42;42	A2RRF2;Q8TDW5	.;SYTL5_HUMAN	M	42	ENSP00000297875:L42M;ENSP00000350657:L42M;ENSP00000395220:L42M	ENSP00000297875:L42M	L	+	1	2	SYTL5	37798414	0.918000	0.31147	0.997000	0.53966	0.791000	0.44710	-0.087000	0.11215	0.105000	0.17753	-0.398000	0.06409	CTG		0.358	SYTL5-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080883.1	NM_138780		10	10	1	0	1.76689e-08	1	2.08604e-08	10	10				
NEK10	152110	broad.mit.edu	37	3	27183039	27183039	+	Silent	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:27183039C>A	ENST00000429845.2	-	34	3437	c.3075G>T	c.(3073-3075)gtG>gtT	p.V1025V	NEK10_ENST00000383770.3_Silent_p.V280V|NEK10_ENST00000383771.4_Silent_p.V327V|NEK10_ENST00000295720.6_Silent_p.V337V|NEK10_ENST00000498182.1_5'UTR			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	1025					positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TGATCTGACGCACTTTCCTCT	0.358																																						ENST00000429845.2																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(3073-3075)gtG>gtT		NIMA-related kinase 10							143.0	142.0	142.0					3																	27183039		2203	4300	6503	SO:0001819	synonymous_variant	152110						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr3:27183039C>A	AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)- related kinase 10"""			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.3075G>T	3.37:g.27183039C>A						NEK10_ENST00000498182.1_5'UTR|NEK10_ENST00000383771.4_Silent_p.V327V|NEK10_ENST00000383770.3_Silent_p.V280V|NEK10_ENST00000295720.6_Silent_p.V337V	p.V1025V			Q6ZWH5	NEK10_HUMAN			34	3437	-			1025					A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Silent	SNP	ENST00000429845.2	37	c.3075G>T																																																																																					0.358	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1	NM_152534		7	60	1	0	5.18039e-06	1	5.69843e-06	7	60				
LRP2	4036	broad.mit.edu	37	2	169999284	169999284	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:169999284C>A	ENST00000263816.3	-	71	13293	c.13008G>T	c.(13006-13008)caG>caT	p.Q4336H		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4336	EGF-like 16. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	GGCTGCAGATCTGTTTGCAAA	0.537																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(13006-13008)caG>caT		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						119.0	114.0	116.0					2																	169999284		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:169999284C>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.13008G>T	2.37:g.169999284C>A	ENSP00000263816:p.Gln4336His						p.Q4336H	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	71	13293	-			4336			EGF-like 16.		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.13008G>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	9.650	1.141200	0.21205	.	.	ENSG00000081479	ENST00000263816	D	0.89485	-2.52	5.86	-9.03	0.00737	Growth factor, receptor (1);Epidermal growth factor-like (1);	0.980375	0.08423	N	0.948047	T	0.63129	0.2485	N	0.03608	-0.345	0.22656	N	0.998886	P	0.43701	0.815	B	0.32533	0.147	T	0.65500	-0.6153	10	0.51188	T	0.08	.	3.9367	0.09309	0.5665:0.0965:0.198:0.139	.	4336	P98164	LRP2_HUMAN	H	4336	ENSP00000263816:Q4336H	ENSP00000263816:Q4336H	Q	-	3	2	LRP2	169707530	0.039000	0.19947	0.001000	0.08648	0.106000	0.19336	-0.429000	0.06982	-1.743000	0.01340	-0.182000	0.12963	CAG		0.537	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		21	56	1	0	1.55795e-14	1	2.11001e-14	21	56				
UBE2S	27338	broad.mit.edu	37	19	55915802	55915802	+	Silent	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:55915802G>A	ENST00000264552.9	-	3	383	c.196C>T	c.(196-198)Ctg>Ttg	p.L66L	UBE2S_ENST00000592570.1_5'Flank|UBE2S_ENST00000589978.1_Intron	NM_014501.2	NP_055316.2	Q16763	UBE2S_HUMAN	ubiquitin-conjugating enzyme E2S	66					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cellular protein modification process (GO:0006464)|exit from mitosis (GO:0010458)|free ubiquitin chain polymerization (GO:0010994)|protein K11-linked ubiquitination (GO:0070979)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)	anaphase-promoting complex (GO:0005680)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			lung(1)	1	Breast(117;0.155)		LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.11)		TCCTTCCCCAGCAGGAGTTTC	0.612																																						ENST00000264552.9																			0				lung(1)	1						c.(196-198)Ctg>Ttg		ubiquitin-conjugating enzyme E2S							30.0	30.0	30.0					19																	55915802		2203	4298	6501	SO:0001819	synonymous_variant	27338				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|exit from mitosis|free ubiquitin chain polymerization|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination	anaphase-promoting complex	ATP binding|ubiquitin-protein ligase activity	g.chr19:55915802G>A	BC004236	CCDS33114.1	19q13.43	2008-02-05				ENSG00000108106		"""Ubiquitin-conjugating enzymes E2"""	17895	protein-coding gene	gene with protein product	"""ubiquitin carrier protein"", ""ubiquitin-conjugating enzyme E2-24 kD"", ""ubiquitin-protein ligase"""	610309				1379239	Standard	NM_014501		Approved	E2-EPF	uc002qkx.1	Q16763		ENST00000264552.9:c.196C>T	19.37:g.55915802G>A						UBE2S_ENST00000589978.1_Intron	p.L66L	NM_014501.2	NP_055316.2	Q16763	UBE2S_HUMAN	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.11)	3	383	-	Breast(117;0.155)		66					Q9BTC1	Silent	SNP	ENST00000264552.9	37	c.196C>T	CCDS33114.1																																																																																				0.612	UBE2S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453088.1	NM_014501		6	16	0	0	0	1	0	6	16				
GK2	2712	broad.mit.edu	37	4	80327826	80327826	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:80327826G>A	ENST00000358842.3	-	1	1546	c.1529C>T	c.(1528-1530)tCa>tTa	p.S510L		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	0					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						CCAACCCATTGACTTCATTAC	0.443																																						ENST00000358842.3																			0				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						c.(1528-1530)tCa>tTa		glycerol kinase 2							147.0	132.0	137.0					4																	80327826		2203	4300	6503	SO:0001583	missense	2712				glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chr4:80327826G>A	BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"""Glycerol kinases"""	4291	protein-coding gene	gene with protein product		600148	"""glycerol kinase pseudogene 2"""	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.1529C>T	4.37:g.80327826G>A	ENSP00000351706:p.Ser510Leu						p.S510L	NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN			1	1546	-			510					Q7Z4Q4	Missense_Mutation	SNP	ENST00000358842.3	37	c.1529C>T	CCDS3585.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.621188	0.46736	.	.	ENSG00000196475	ENST00000358842	D	0.89875	-2.58	4.11	4.11	0.48088	.	0.134851	0.51477	D	0.000084	D	0.89955	0.6865	M	0.75150	2.29	0.58432	D	0.999999	P	0.45428	0.858	P	0.45794	0.493	D	0.91649	0.5333	10	0.87932	D	0	-11.7055	14.652	0.68805	0.0:0.0:1.0:0.0	.	510	Q14410	GLPK2_HUMAN	L	510	ENSP00000351706:S510L	ENSP00000351706:S510L	S	-	2	0	GK2	80546850	1.000000	0.71417	1.000000	0.80357	0.486000	0.33341	8.197000	0.89727	2.584000	0.87258	0.585000	0.79938	TCA		0.443	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	NM_033214		18	78	0	0	0	1	0	18	78				
KRT6B	3854	broad.mit.edu	37	12	52842695	52842695	+	Silent	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr12:52842695C>T	ENST00000252252.3	-	6	1181	c.1134G>A	c.(1132-1134)aaG>aaA	p.K378K		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	378	Coil 2.|Rod.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		CAATCTCCTGCTTGGTGTTGC	0.552																																						ENST00000252252.3																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40						c.(1132-1134)aaG>aaA		keratin 6B							125.0	97.0	106.0					12																	52842695		2203	4291	6494	SO:0001819	synonymous_variant	3854				ectoderm development	keratin filament	structural constituent of cytoskeleton	g.chr12:52842695C>T	BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6444	protein-coding gene	gene with protein product		148042	"""keratin-like 1 (a type II keratin sequence)"""	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.1134G>A	12.37:g.52842695C>T							p.K378K	NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.083)	6	1181	-			378			Coil 2.|Rod.		P48669	Silent	SNP	ENST00000252252.3	37	c.1134G>A	CCDS8828.1																																																																																				0.552	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404969.1	NM_005555		25	31	0	0	0	1	0	25	31				
CDH9	1007	broad.mit.edu	37	5	26988327	26988327	+	Silent	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr5:26988327C>A	ENST00000231021.4	-	2	286	c.114G>T	c.(112-114)gcG>gcT	p.A38A		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	38			A -> V (in dbSNP:rs2288466). {ECO:0000269|PubMed:15489334}.		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						TTGTCAGACCCGCTATCTTTT	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.(112-114)gcG>gcT		cadherin 9, type 2 (T1-cadherin)							139.0	135.0	136.0					5																	26988327		2203	4300	6503	SO:0001819	synonymous_variant	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26988327C>A	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.114G>T	5.37:g.26988327C>A							p.A38A	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			2	286	-			38		A -> V (in dbSNP:rs2288466).			Q3B7I5	Silent	SNP	ENST00000231021.4	37	c.114G>T	CCDS3893.1																																																																																				0.393	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		18	42	1	0	4.75885e-15	1	6.52353e-15	18	42				
NMD3	51068	broad.mit.edu	37	3	160964156	160964156	+	Silent	SNP	A	A	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:160964156A>G	ENST00000460469.1	+	11	1505	c.1050A>G	c.(1048-1050)acA>acG	p.T350T	NMD3_ENST00000351193.2_Silent_p.T350T|NMD3_ENST00000472947.1_Silent_p.T350T			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	350					protein transport (GO:0015031)|ribosomal large subunit export from nucleus (GO:0000055)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|ribosomal large subunit binding (GO:0043023)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			TACAGAAGACATCTGAAATGA	0.358																																						ENST00000460469.1																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25						c.(1048-1050)acA>acG		NMD3 ribosome export adaptor							75.0	76.0	76.0					3																	160964156		2203	4300	6503	SO:0001819	synonymous_variant	51068				protein transport	cytoplasm|nucleolus|nucleoplasm		g.chr3:160964156A>G	BC013317	CCDS3194.1	3q26.1	2013-08-06	2013-08-06		ENSG00000169251	ENSG00000169251			24250	protein-coding gene	gene with protein product		611021	"""NMD3 homolog (S. cerevisiae)"""			10810093, 23782956, 12773398	Standard	NM_015938		Approved	CGI-07	uc003feb.1	Q96D46	OTTHUMG00000159063	ENST00000460469.1:c.1050A>G	3.37:g.160964156A>G						NMD3_ENST00000351193.2_Silent_p.T350T|NMD3_ENST00000472947.1_Silent_p.T350T	p.T350T			Q96D46	NMD3_HUMAN	Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)		11	1505	+			350					D3DNM7|Q9Y2Z6	Silent	SNP	ENST00000460469.1	37	c.1050A>G	CCDS3194.1																																																																																				0.358	NMD3-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353114.1	NM_015938		13	43	0	0	0	1	0	13	43				
ADCY1	107	broad.mit.edu	37	7	45614759	45614759	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:45614759A>T	ENST00000297323.7	+	1	639	c.617A>T	c.(616-618)aAg>aTg	p.K206M	ADCY1_ENST00000432715.1_5'UTR	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	206					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)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|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)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GTCCCCGCCAAGCGCCCACGT	0.662																																						ENST00000297323.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(616-618)aAg>aTg		adenylate cyclase 1 (brain)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)						21.0	21.0	21.0					7																	45614759		2193	4286	6479	SO:0001583	missense	107				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|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45614759A>T	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.617A>T	7.37:g.45614759A>T	ENSP00000297323:p.Lys206Met					ADCY1_ENST00000432715.1_5'UTR	p.K206M	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN			1	639	+			206					A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	c.617A>T	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	A	14.66	2.602939	0.46423	.	.	ENSG00000164742	ENST00000297323;ENST00000545300	T	0.80304	-1.36	3.7	2.52	0.30459	.	0.000000	0.85682	D	0.000000	T	0.77519	0.4142	N	0.25647	0.755	0.40973	D	0.984711	P	0.46327	0.876	P	0.58520	0.84	T	0.74250	-0.3726	10	0.48119	T	0.1	.	6.1044	0.20065	0.8573:0.0:0.1427:0.0	.	206	Q08828	ADCY1_HUMAN	M	206	ENSP00000297323:K206M	ENSP00000297323:K206M	K	+	2	0	ADCY1	45581284	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	2.757000	0.47557	0.472000	0.27344	0.172000	0.16884	AAG		0.662	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		6	16	0	0	0	1	0	6	16				
TIMM21	29090	broad.mit.edu	37	18	71816193	71816193	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr18:71816193A>C	ENST00000169551.6	+	1	448	c.150A>C	c.(148-150)aaA>aaC	p.K50N	FBXO15_ENST00000269500.5_5'Flank|TIMM21_ENST00000580087.1_Missense_Mutation_p.K50N|FBXO15_ENST00000419743.2_5'Flank	NM_014177.2	NP_054896.2	Q9BVV7	TIM21_HUMAN	translocase of inner mitochondrial membrane 21 homolog (yeast)	50					cellular protein metabolic process (GO:0044267)|mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|protein import into mitochondrial matrix (GO:0030150)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane presequence translocase complex (GO:0005744)											ATCAAAAGAAAACGCTGCGAC	0.498																																						ENST00000580087.1																			0											c.(148-150)aaA>aaC		translocase of inner mitochondrial membrane 21 homolog (yeast)							155.0	163.0	160.0					18																	71816193		2203	4300	6503	SO:0001583	missense	29090				protein transport|transmembrane transport	integral to membrane|mitochondrial membrane		g.chr18:71816193A>C	BC000892	CCDS12003.1	18q22.3	2011-11-25	2011-11-25	2011-11-25	ENSG00000075336	ENSG00000075336			25010	protein-coding gene	gene with protein product		615180	"""chromosome 18 open reading frame 55"""	C18orf55		11042152	Standard	NM_014177		Approved	HSPC154, TIM21	uc010dqr.1	Q9BVV7	OTTHUMG00000132844	ENST00000169551.6:c.150A>C	18.37:g.71816193A>C	ENSP00000169551:p.Lys50Asn					TIMM21_ENST00000169551.6_Missense_Mutation_p.K50N	p.K50N			Q9BVV7	TI21L_HUMAN			1	436	+			50					Q9P010	Missense_Mutation	SNP	ENST00000169551.6	37	c.150A>C	CCDS12003.1	.	.	.	.	.	.	.	.	.	.	A	11.18	1.563781	0.27915	.	.	ENSG00000075336	ENST00000169551	T	0.46063	0.88	4.74	-1.75	0.08031	.	1.196120	0.05779	N	0.608346	T	0.33411	0.0862	L	0.51422	1.61	0.09310	N	1	B	0.29432	0.244	B	0.24848	0.056	T	0.24225	-1.0166	10	0.17832	T	0.49	-2.1266	8.9287	0.35657	0.533:0.0:0.467:0.0	.	50	Q9BVV7	TI21L_HUMAN	N	50	ENSP00000169551:K50N	ENSP00000169551:K50N	K	+	3	2	C18orf55	69967173	0.000000	0.05858	0.000000	0.03702	0.158000	0.22134	0.222000	0.17699	-0.183000	0.10585	0.528000	0.53228	AAA		0.498	TIMM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256318.1	NM_014177		38	84	0	0	0	1	0	38	84				
CUBN	8029	broad.mit.edu	37	10	16982125	16982125	+	Silent	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr10:16982125G>A	ENST00000377833.4	-	37	5519	c.5454C>T	c.(5452-5454)ctC>ctT	p.L1818L		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1818	CUB 12. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAGAATAATTGAGAGGGAAGG	0.498																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(5452-5454)ctC>ctT		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						183.0	189.0	187.0					10																	16982125		2203	4300	6503	SO:0001819	synonymous_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16982125G>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.5454C>T	10.37:g.16982125G>A							p.L1818L	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			37	5519	-			1818			CUB 12.		B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	c.5454C>T	CCDS7113.1																																																																																				0.498	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		104	165	0	0	0	1	0	104	165				
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473173	22473173	+	RNA	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr15:22473173G>T	ENST00000557788.2	-	0	97							A6NJ16	IV4F8_HUMAN	immunoglobulin heavy variable 4/OR15-8 (non-functional)							extracellular region (GO:0005576)											GGTCTCCGAAGGCTTCACCAG	0.647																																						ENST00000557788.2																			0																																																			28317							g.chr15:22473173G>T	Z29598		15q11.2	2012-02-20	2008-09-15		ENSG00000259261	ENSG00000259261		"""Immunoglobulins / IGH orphons"""	5658	other	immunoglobulin gene			"""immunoglobulin heavy variable 4/OR15-8"", ""V-set and immunoglobulin domain containing 6"""	VSIG6		7951227	Standard			Approved	IGHV4/OR15-8, IGHV4OR158		A6NJ16	OTTHUMG00000171934		15.37:g.22473173G>T														0	97	-									RNA	SNP	ENST00000557788.2	37																																																																																						0.647	IGHV4OR15-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000415968.2			29	191	1	0	9.39395e-14	1	1.25345e-13	29	191				
IL12RB2	3595	broad.mit.edu	37	1	67861293	67861293	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:67861293C>A	ENST00000262345.1	+	16	2750	c.2110C>A	c.(2110-2112)Ccg>Acg	p.P704T	IL12RB2_ENST00000371000.1_3'UTR|IL12RB2_ENST00000541374.1_3'UTR|IL12RB2_ENST00000465396.1_3'UTR|IL12RB2_ENST00000544434.1_Missense_Mutation_p.P618T	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	704					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						AGATCCTGAACCGCTGGTCAT	0.537																																						ENST00000262345.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						c.(2110-2112)Ccg>Acg		interleukin 12 receptor, beta 2							79.0	84.0	82.0					1																	67861293		2203	4300	6503	SO:0001583	missense	3595				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	g.chr1:67861293C>A	U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.2110C>A	1.37:g.67861293C>A	ENSP00000262345:p.Pro704Thr					IL12RB2_ENST00000541374.1_3'UTR|IL12RB2_ENST00000544434.1_Missense_Mutation_p.P618T|IL12RB2_ENST00000371000.1_3'UTR|IL12RB2_ENST00000465396.1_3'UTR	p.P704T	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN			16	2750	+			704					B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Missense_Mutation	SNP	ENST00000262345.1	37	c.2110C>A	CCDS638.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.470024	0.43839	.	.	ENSG00000081985	ENST00000262345;ENST00000544434	T;T	0.37915	1.17;2.15	5.11	4.13	0.48395	.	0.404030	0.27787	N	0.017850	T	0.09024	0.0223	N	0.17082	0.46	0.80722	D	1	B;B	0.29136	0.234;0.005	B;B	0.37650	0.255;0.004	T	0.10776	-1.0615	10	0.02654	T	1	-8.1519	9.0802	0.36547	0.3819:0.6181:0.0:0.0	.	618;704	F5H7L6;Q99665	.;I12R2_HUMAN	T	704;618	ENSP00000262345:P704T;ENSP00000442443:P618T	ENSP00000262345:P704T	P	+	1	0	IL12RB2	67633881	0.878000	0.30173	0.992000	0.48379	0.102000	0.19082	0.965000	0.29319	1.196000	0.43129	0.561000	0.74099	CCG		0.537	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559		15	51	1	0	2.31682e-05	1	2.49376e-05	15	51				
CXorf22	170063	broad.mit.edu	37	X	35993268	35993268	+	Silent	SNP	T	T	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chrX:35993268T>G	ENST00000297866.5	+	14	2325	c.2259T>G	c.(2257-2259)ccT>ccG	p.P753P		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	753										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TTTCAGGGCCTTCTGTCCTTA	0.284																																						ENST00000297866.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.(2257-2259)ccT>ccG		chromosome X open reading frame 22							72.0	69.0	70.0					X																	35993268		2202	4293	6495	SO:0001819	synonymous_variant	170063							g.chrX:35993268T>G	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.2259T>G	X.37:g.35993268T>G							p.P753P	NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN			14	2325	+			753					Q5JRM8|Q8N6X8	Silent	SNP	ENST00000297866.5	37	c.2259T>G	CCDS14237.2																																																																																				0.284	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		29	25	0	0	0	1	0	29	25				
AP5Z1	9907	broad.mit.edu	37	7	4825067	4825067	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:4825067C>A	ENST00000348624.4	+	8	1047	c.953C>A	c.(952-954)tCc>tAc	p.S318Y	AP5Z1_ENST00000401897.1_Missense_Mutation_p.S318Y	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	318					cell death (GO:0008219)|double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-5 adaptor complex (GO:0044599)|AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|nucleus (GO:0005634)											AAGGGGGACTCCGACCTGCAG	0.622																																						ENST00000348624.4																			0											c.(952-954)tCc>tAc		adaptor-related protein complex 5, zeta 1 subunit							35.0	42.0	39.0					7																	4825067		2083	4194	6277	SO:0001583	missense	9907				cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding	g.chr7:4825067C>A	AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"""KIAA0415"""	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.953C>A	7.37:g.4825067C>A	ENSP00000297562:p.Ser318Tyr					AP5Z1_ENST00000401897.1_Missense_Mutation_p.S318Y	p.S318Y	NM_014855.2	NP_055670.1	O43299	K0415_HUMAN			8	1047	+			318					Q8N3X2|Q96H80	Missense_Mutation	SNP	ENST00000348624.4	37	c.953C>A	CCDS47528.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.787751	0.49997	.	.	ENSG00000242802	ENST00000348624;ENST00000401897	T;T	0.46063	0.88;0.88	5.48	3.55	0.40652	.	0.346233	0.28453	N	0.015297	T	0.48484	0.1502	L	0.53249	1.67	0.09310	N	1	D	0.61080	0.989	P	0.56700	0.804	T	0.35475	-0.9787	10	0.66056	D	0.02	.	7.4228	0.27081	0.0:0.6345:0.1889:0.1766	.	318	O43299	K0415_HUMAN	Y	318	ENSP00000297562:S318Y;ENSP00000384980:S318Y	ENSP00000297562:S318Y	S	+	2	0	KIAA0415	4791593	0.096000	0.21769	0.053000	0.19242	0.738000	0.42128	3.103000	0.50298	1.302000	0.44855	0.561000	0.74099	TCC		0.622	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323771.1			5	11	1	0	0.000602214	1	0.000627249	5	11				
ELMO1	9844	broad.mit.edu	37	7	37264526	37264526	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:37264526G>T	ENST00000310758.4	-	9	1306	c.659C>A	c.(658-660)gCg>gAg	p.A220E	ELMO1_ENST00000442504.1_Missense_Mutation_p.A220E|ELMO1_ENST00000448602.1_Missense_Mutation_p.A220E	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	220					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GATCTCCTGCGCCACTTTCTG	0.527																																						ENST00000310758.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						c.(658-660)gCg>gAg		engulfment and cell motility 1							131.0	111.0	118.0					7																	37264526		2203	4300	6503	SO:0001583	missense	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:37264526G>T	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.659C>A	7.37:g.37264526G>T	ENSP00000312185:p.Ala220Glu					ELMO1_ENST00000448602.1_Missense_Mutation_p.A220E|ELMO1_ENST00000442504.1_Missense_Mutation_p.A220E	p.A220E	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN			9	1306	-			220					A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	c.659C>A	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.507349	0.27036	.	.	ENSG00000155849	ENST00000310758;ENST00000361912;ENST00000442504;ENST00000448602	T;T;T	0.52295	0.67;0.67;0.67	5.4	5.4	0.78164	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.41811	0.1175	N	0.24115	0.695	0.80722	D	1	B	0.31949	0.348	B	0.42959	0.403	T	0.13150	-1.0520	10	0.02654	T	1	.	19.5556	0.95345	0.0:0.0:1.0:0.0	.	220	Q92556	ELMO1_HUMAN	E	220;124;220;220	ENSP00000312185:A220E;ENSP00000406952:A220E;ENSP00000394458:A220E	ENSP00000312185:A220E	A	-	2	0	ELMO1	37231051	1.000000	0.71417	0.963000	0.40424	0.901000	0.52897	9.864000	0.99589	2.693000	0.91896	0.655000	0.94253	GCG		0.527	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		23	53	1	0	1.50039e-11	1	1.93336e-11	23	53				
RPL10L	140801	broad.mit.edu	37	14	47120455	47120455	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr14:47120455C>A	ENST00000298283.3	-	1	573	c.485G>T	c.(484-486)cGc>cTc	p.R162L		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	162					spermatogenesis (GO:0007283)|translation (GO:0006412)	cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	structural constituent of ribosome (GO:0003735)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						AATCTTCTGGCGTCCAGGGAA	0.498																																						ENST00000298283.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						c.(484-486)cGc>cTc		ribosomal protein L10-like							92.0	92.0	92.0					14																	47120455		2203	4300	6503	SO:0001583	missense	140801				spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome	g.chr14:47120455C>A	AB063608	CCDS32071.1	14q21.2	2011-09-15			ENSG00000165496	ENSG00000165496		"""L ribosomal proteins"""	17976	protein-coding gene	gene with protein product						19123937	Standard	NM_080746		Approved		uc001wwg.3	Q96L21	OTTHUMG00000157869	ENST00000298283.3:c.485G>T	14.37:g.47120455C>A	ENSP00000298283:p.Arg162Leu						p.R162L	NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN			1	573	-			162					Q8IUD1	Missense_Mutation	SNP	ENST00000298283.3	37	c.485G>T	CCDS32071.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.578684	0.65878	.	.	ENSG00000165496	ENST00000298283	T	0.73681	-0.77	4.57	4.57	0.56435	Ribosomal protein L10e/L16 (2);	0.109105	0.64402	D	0.000005	D	0.85831	0.5788	H	0.99117	4.435	0.80722	D	1	B	0.02656	0.0	B	0.19946	0.027	D	0.86923	0.2068	10	0.66056	D	0.02	-30.0537	15.6671	0.77238	0.0:1.0:0.0:0.0	.	162	Q96L21	RL10L_HUMAN	L	162	ENSP00000298283:R162L	ENSP00000298283:R162L	R	-	2	0	RPL10L	46190205	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.929000	0.75852	2.824000	0.97209	0.655000	0.94253	CGC		0.498	RPL10L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349819.1			38	78	1	0	5.43694e-19	1	7.66268e-19	38	78				
OR8J3	81168	broad.mit.edu	37	11	55904831	55904831	+	Missense_Mutation	SNP	G	G	A	rs201535279	byFrequency	TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr11:55904831G>A	ENST00000301529.1	-	1	363	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					GCCACATAGCGGTCATAGGCC	0.502													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17501	0.0		0.0	False		,,,				2504	0.0					ENST00000301529.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59						c.(364-366)Cgc>Tgc		olfactory receptor, family 8, subfamily J, member 3		G	CYS/ARG	3,4399	6.2+/-15.9	0,3,2198	151.0	138.0	142.0		364	3.3	1.0	11		142	0,8592		0,0,4296	no	missense	OR8J3	NM_001004064.1	180	0,3,6494	AA,AG,GG		0.0,0.0682,0.0231	probably-damaging	122/316	55904831	3,12991	2201	4296	6497	SO:0001583	missense	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55904831G>A		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.364C>T	11.37:g.55904831G>A	ENSP00000301529:p.Arg122Cys						p.R122C	NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN			1	363	-	Esophageal squamous(21;0.00693)		122					Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	c.364C>T	CCDS31520.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	18.04	3.534519	0.64972	6.82E-4	0.0	ENSG00000167822	ENST00000301529	T	0.77358	-1.09	3.26	3.26	0.37387	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000007	D	0.83431	0.5253	M	0.76433	2.335	0.38528	D	0.948897	D	0.62365	0.991	P	0.58970	0.849	D	0.85834	0.1393	10	0.66056	D	0.02	.	9.9828	0.41824	0.0:0.0:0.797:0.203	.	122	Q8NGG0	OR8J3_HUMAN	C	122	ENSP00000301529:R122C	ENSP00000301529:R122C	R	-	1	0	OR8J3	55661407	1.000000	0.71417	0.981000	0.43875	0.828000	0.46876	2.411000	0.44600	1.548000	0.49413	0.289000	0.19496	CGC		0.502	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		28	51	0	0	0	1	0	28	51				
TIA1	7072	broad.mit.edu	37	2	70443968	70443968	+	Intron	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:70443968G>A	ENST00000433529.2	-	8	794				TIA1_ENST00000445587.1_Intron|TIA1_ENST00000282574.4_Intron|C2orf42_ENST00000470096.1_Intron|TIA1_ENST00000416149.2_Silent_p.Y211Y|TIA1_ENST00000482876.1_Intron|TIA1_ENST00000415783.2_Intron	NM_022173.2	NP_071505.2	P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein						apoptotic process (GO:0006915)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of translation (GO:0017148)|regulation of mRNA splicing, via spliceosome (GO:0048024)	cytoplasmic stress granule (GO:0010494)|nuclear stress granule (GO:0097165)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						AAAATCTAGCGTATTTTTCTC	0.373																																						ENST00000416149.2																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						c.(631-633)taC>taT		TIA1 cytotoxic granule-associated RNA binding protein							104.0	117.0	113.0					2																	70443968		2203	4300	6503	SO:0001627	intron_variant	7072				apoptosis|induction of apoptosis|regulation of nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|poly(A) RNA binding|protein binding	g.chr2:70443968G>A		CCDS1900.1, CCDS1901.1	2p13	2013-02-12	2001-11-28		ENSG00000116001	ENSG00000116001		"""RNA binding motif (RRM) containing"""	11802	protein-coding gene	gene with protein product	"""T-cell-restricted intracellular antigen-1"", ""nucleolysin TIA-1 isoform p40"""	603518	"""TIA1 cytotoxic granule-associated RNA-binding protein"""			8176212, 12486009	Standard	NM_022173		Approved		uc002sgj.4	P31483	OTTHUMG00000129644	ENST00000433529.2:c.583+49C>T	2.37:g.70443968G>A						TIA1_ENST00000482876.1_Intron|TIA1_ENST00000415783.2_Intron|TIA1_ENST00000282574.4_Intron|C2orf42_ENST00000470096.1_Intron|TIA1_ENST00000433529.2_Intron|TIA1_ENST00000445587.1_Intron	p.Y211Y			P31483	TIA1_HUMAN			8	656	-			313					Q53SS9	Silent	SNP	ENST00000433529.2	37	c.633C>T	CCDS1901.1																																																																																				0.373	TIA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251842.2	NM_022037		48	108	0	0	0	1	0	48	108				
FCRL3	115352	broad.mit.edu	37	1	157659664	157659664	+	Silent	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:157659664C>T	ENST00000368184.3	-	10	2025	c.1734G>A	c.(1732-1734)acG>acA	p.T578T	FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Silent_p.T578T	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	578						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GCACCAGCCCCGTGATTCCCG	0.562																																						ENST00000368184.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69						c.(1732-1734)acG>acA		Fc receptor-like 3							156.0	123.0	134.0					1																	157659664		2203	4300	6503	SO:0001819	synonymous_variant	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157659664C>T	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.1734G>A	1.37:g.157659664C>T						FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Silent_p.T578T	p.T578T	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN			10	2025	-	all_hematologic(112;0.0378)		578					A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Silent	SNP	ENST00000368184.3	37	c.1734G>A	CCDS1167.1																																																																																				0.562	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		9	44	0	0	0	1	0	9	44				
ATP2A1	487	broad.mit.edu	37	16	28895897	28895897	+	Splice_Site	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr16:28895897G>T	ENST00000357084.3	+	6	732	c.465G>T	c.(463-465)gtG>gtT	p.V155V	ATP2A1_ENST00000536376.1_Splice_Site_p.V30V|SNORA43_ENST00000516652.1_RNA|ATP2A1_ENST00000395503.4_Splice_Site_p.V155V	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	155					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						TCTCCACAGTGGGGGACAAAG	0.532																																						ENST00000395503.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						c.e6-1		ATPase, Ca++ transporting, cardiac muscle, fast twitch 1							58.0	53.0	55.0					16																	28895897		2197	4300	6497	SO:0001630	splice_region_variant	487				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	g.chr16:28895897G>T		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.464-1G>T	16.37:g.28895897G>T						ATP2A1_ENST00000536376.1_Splice_Site_p.V30_splice|ATP2A1_ENST00000357084.3_Splice_Site_p.V155_splice	p.V155_splice	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN			6	649	+			155					A8K5J9|B3KY17|O14984	Splice_Site	SNP	ENST00000357084.3	37	c.463_splice	CCDS10643.1																																																																																				0.532	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320	Silent	8	25	1	0	7.48243e-07	1	8.45758e-07	8	25				
OR2B3	442184	broad.mit.edu	37	6	29054757	29054757	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:29054757T>C	ENST00000377173.2	-	1	333	c.269A>G	c.(268-270)aAg>aGg	p.K90R		NM_001005226.2	NP_001005226.1	O76000	OR2B3_HUMAN	olfactory receptor, family 2, subfamily B, member 3	90						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						GCTGATGGTCTTTTTGTTGCA	0.443																																						ENST00000377173.2																			0				breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						c.(268-270)aAg>aGg		olfactory receptor, family 2, subfamily B, member 3							127.0	124.0	125.0					6																	29054757		2203	4300	6503	SO:0001583	missense	442184							g.chr6:29054757T>C		CCDS34358.1	6p22.2-p21.31	2012-08-09	2008-10-22	2008-10-22	ENSG00000204703	ENSG00000204703		"""GPCR / Class A : Olfactory receptors"""	8238	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 3 pseudogene"""	OR2B3P			Standard	NM_001005226		Approved	OR6-4	uc003nlx.3	O76000	OTTHUMG00000031226	ENST00000377173.2:c.269A>G	6.37:g.29054757T>C	ENSP00000366378:p.Lys90Arg						p.K90R	NM_001005226.2	NP_001005226.1					1	333	-								B0UYQ1|Q5ST41|Q96R13	Missense_Mutation	SNP	ENST00000377173.2	37	c.269A>G	CCDS34358.1	.	.	.	.	.	.	.	.	.	.	T	15.69	2.906783	0.52333	.	.	ENSG00000204703	ENST00000377173	T	0.37584	1.19	3.9	3.9	0.45041	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42053	U	0.000764	T	0.35278	0.0926	L	0.49455	1.56	0.21147	N	0.999774	D	0.71674	0.998	D	0.79784	0.993	T	0.09292	-1.0681	10	0.51188	T	0.08	.	8.4273	0.32735	0.0:0.0995:0.0:0.9005	.	90	O76000	OR2B3_HUMAN	R	90	ENSP00000366378:K90R	ENSP00000366378:K90R	K	-	2	0	OR2B3	29162736	0.000000	0.05858	0.978000	0.43139	0.855000	0.48748	-0.107000	0.10873	1.385000	0.46445	0.472000	0.43445	AAG		0.443	OR2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076469.2			24	77	0	0	0	1	0	24	77				
SCNN1B	6338	broad.mit.edu	37	16	23391744	23391744	+	Silent	SNP	C	C	T	rs61759916		TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr16:23391744C>T	ENST00000343070.2	+	13	1721	c.1545C>T	c.(1543-1545)atC>atT	p.I515I	SCNN1B_ENST00000568923.1_Silent_p.I488I|SCNN1B_ENST00000307331.5_Silent_p.I560I|SCNN1B_ENST00000568085.1_Silent_p.I479I	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	515					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CCCCACAGATCGTCTGGCTGC	0.582													c|||	1	0.000199681	0.0	0.0	5008	,	,		16960	0.0		0.001	False		,,,				2504	0.0					ENST00000343070.2																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(1543-1545)atC>atT		sodium channel, non-voltage-gated 1, beta subunit	Amiloride(DB00594)|Triamterene(DB00384)	C		2,4392	4.2+/-10.8	0,2,2195	84.0	81.0	82.0		1545	-4.6	0.9	16	dbSNP_129	82	23,8577	16.6+/-54.9	0,23,4277	no	coding-synonymous	SCNN1B	NM_000336.2		0,25,6472	TT,TC,CC		0.2674,0.0455,0.1924		515/641	23391744	25,12969	2197	4300	6497	SO:0001819	synonymous_variant	6338				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23391744C>T	X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10600	protein-coding gene	gene with protein product	"""Liddle syndrome"""	600760	"""sodium channel, nonvoltage-gated 1, beta"", ""sodium channel, non-voltage-gated 1, beta"""				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.1545C>T	16.37:g.23391744C>T						SCNN1B_ENST00000568923.1_Silent_p.I488I|SCNN1B_ENST00000307331.5_Silent_p.I560I|SCNN1B_ENST00000568085.1_Silent_p.I479I	p.I515I	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN		GBM - Glioblastoma multiforme(48;0.0465)	13	1721	+			515					C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Silent	SNP	ENST00000343070.2	37	c.1545C>T	CCDS10609.1																																																																																				0.582	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2			25	54	0	0	0	1	0	25	54				
PDLIM3	27295	broad.mit.edu	37	4	186446225	186446225	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:186446225G>A	ENST00000284770.5	-	2	267	c.194C>T	c.(193-195)gCg>gTg	p.A65V	PDLIM3_ENST00000284767.5_Missense_Mutation_p.A65V|PDLIM3_ENST00000284771.6_Missense_Mutation_p.A65V	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	65	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament organization (GO:0007015)|heart development (GO:0007507)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of muscle (GO:0008307)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		CCTGTCCTGCGCATCAGCATG	0.493																																						ENST00000284767.5																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(193-195)gCg>gTg		PDZ and LIM domain 3							144.0	135.0	138.0					4																	186446225		2203	4300	6503	SO:0001583	missense	27295					sarcomere	zinc ion binding	g.chr4:186446225G>A	AF002280	CCDS3844.1, CCDS47172.1, CCDS75218.1, CCDS75219.1	4q35	2014-09-17			ENSG00000154553	ENSG00000154553			20767	protein-coding gene	gene with protein product		605889				10063829, 8828038	Standard	NM_014476		Approved	ALP	uc003ixw.4	Q53GG5	OTTHUMG00000160412	ENST00000284770.5:c.194C>T	4.37:g.186446225G>A	ENSP00000284770:p.Ala65Val					PDLIM3_ENST00000284770.5_Missense_Mutation_p.A65V|PDLIM3_ENST00000284771.6_Missense_Mutation_p.A65V	p.A65V			Q53GG5	PDLI3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)	2	261	-		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)	65			PDZ.		B2R866|O43590|O60439|O60440|Q8N6Y6|Q9BVP4	Missense_Mutation	SNP	ENST00000284770.5	37	c.194C>T	CCDS3844.1	.	.	.	.	.	.	.	.	.	.	G	32	5.143156	0.94560	.	.	ENSG00000154553	ENST00000284770;ENST00000284771;ENST00000284767	T;T;T	0.32023	1.47;1.47;1.47	5.44	5.44	0.79542	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.55049	0.1896	L	0.60455	1.87	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.972;0.992	T	0.55315	-0.8160	10	0.87932	D	0	-20.3474	19.6213	0.95656	0.0:0.0:1.0:0.0	.	65;65;65	Q53GG5-3;Q53GG5-2;Q53GG5	.;.;PDLI3_HUMAN	V	65	ENSP00000284770:A65V;ENSP00000284771:A65V;ENSP00000284767:A65V	ENSP00000284767:A65V	A	-	2	0	PDLIM3	186683219	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	7.462000	0.80851	2.716000	0.92895	0.561000	0.74099	GCG		0.493	PDLIM3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360499.2	NM_014476		39	70	0	0	0	1	0	39	70				
PKHD1	5314	broad.mit.edu	37	6	51768526	51768526	+	Splice_Site	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:51768526C>T	ENST00000371117.3	-	43	7141		c.e43-1		PKHD1_ENST00000340994.4_Splice_Site	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)						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)					CCTGACCAGTCTAATGTTTCA	0.398																																						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.e43-1		polycystic kidney and hepatic disease 1 (autosomal recessive)							124.0	117.0	120.0					6																	51768526		2203	4300	6503	SO:0001630	splice_region_variant	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.chr6:51768526C>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.6866-1G>A	6.37:g.51768526C>T						PKHD1_ENST00000340994.4_Splice_Site		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			43	7141	-	Lung NSC(77;0.0605)							Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Splice_Site	SNP	ENST00000371117.3	37		CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	9.656	1.142812	0.21205	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	.	.	.	5.73	2.97	0.34412	.	.	.	.	.	.	.	.	.	.	.	0.22050	N	0.999399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.2761	0.20981	0.1488:0.6985:0.0:0.1527	.	.	.	.	.	-1	.	.	.	-	.	.	PKHD1	51876485	0.867000	0.29959	0.005000	0.12908	0.397000	0.30659	1.278000	0.33179	0.327000	0.23409	0.650000	0.86243	.		0.398	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	Intron	25	63	0	0	0	1	0	25	63				
DAB1	1600	broad.mit.edu	37	1	57610988	57610988	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:57610988C>T	ENST00000371231.1	-	2	216	c.182G>A	c.(181-183)tGt>tAt	p.C61Y	DAB1_ENST00000371236.2_Missense_Mutation_p.C61Y|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000414851.2_Missense_Mutation_p.C61Y|DAB1_ENST00000420954.2_Missense_Mutation_p.C61Y|DAB1_ENST00000371234.4_Missense_Mutation_p.C61Y|DAB1_ENST00000439789.2_Missense_Mutation_p.C61Y|DAB1_ENST00000371230.1_Missense_Mutation_p.C61Y			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	61	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)		p.C61F(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GGAATCTTGACATAACTTGTC	0.393																																						ENST00000371236.2																			1	Substitution - Missense(1)	p.C61F(1)	lung(1)	central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						c.(181-183)tGt>tAt		Dab, reelin signal transducer, homolog 1 (Drosophila)							149.0	130.0	137.0					1																	57610988		2203	4300	6503	SO:0001583	missense	1600				cell differentiation|nervous system development			g.chr1:57610988C>T	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.182G>A	1.37:g.57610988C>T	ENSP00000360275:p.Cys61Tyr					DAB1_ENST00000414851.2_Missense_Mutation_p.C61Y|DAB1_ENST00000371230.1_Missense_Mutation_p.C61Y|DAB1_ENST00000371234.4_Missense_Mutation_p.C61Y|DAB1_ENST00000439789.2_Missense_Mutation_p.C61Y|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000420954.2_Missense_Mutation_p.C61Y|DAB1_ENST00000371231.1_Missense_Mutation_p.C61Y	p.C61Y			O75553	DAB1_HUMAN			3	445	-			61			PID.		A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Missense_Mutation	SNP	ENST00000371231.1	37	c.182G>A		.	.	.	.	.	.	.	.	.	.	C	29.0	4.965790	0.92855	.	.	ENSG00000173406	ENST00000371236;ENST00000371233;ENST00000371234;ENST00000420954;ENST00000414851;ENST00000439789;ENST00000371231;ENST00000371232;ENST00000332102;ENST00000371230	T;T;T;T;T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;2.51;-0.08;2.51;-0.08;-0.08	5.49	5.49	0.81192	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.80363	0.4609	M	0.76170	2.325	0.58432	D	0.999996	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.977;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.972;1.0	T	0.82145	-0.0602	10	0.87932	D	0	-29.0633	19.3804	0.94530	0.0:1.0:0.0:0.0	.	61;61;61;61;61	O75553-4;O75553;O75553-6;O75553-3;O75553-5	.;DAB1_HUMAN;.;.;.	Y	61	ENSP00000360280:C61Y;ENSP00000360278:C61Y;ENSP00000395296:C61Y;ENSP00000387581:C61Y;ENSP00000409328:C61Y;ENSP00000360275:C61Y;ENSP00000360276:C61Y;ENSP00000329120:C61Y;ENSP00000360274:C61Y	ENSP00000329120:C61Y	C	-	2	0	DAB1	57383576	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.814000	0.86154	2.571000	0.86741	0.655000	0.94253	TGT		0.393	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080		17	60	0	0	0	1	0	17	60				
XYLT1	64131	broad.mit.edu	37	16	17211771	17211771	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr16:17211771C>A	ENST00000261381.6	-	11	2373	c.2289G>T	c.(2287-2289)atG>atT	p.M763I		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	763					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCGGCTCATCCATGGGCCCCA	0.572																																						ENST00000261381.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(2287-2289)atG>atT		xylosyltransferase I							113.0	96.0	102.0					16																	17211771		2197	4300	6497	SO:0001583	missense	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17211771C>A	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.2289G>T	16.37:g.17211771C>A	ENSP00000261381:p.Met763Ile						p.M763I	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN			11	2373	-			763					Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	c.2289G>T	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.195246	0.38806	.	.	ENSG00000103489	ENST00000261381	T	0.42513	0.97	5.08	5.08	0.68730	.	0.114616	0.85682	D	0.000000	T	0.36524	0.0970	L	0.54323	1.7	0.50632	D	0.999887	P	0.39424	0.673	B	0.37550	0.253	T	0.10941	-1.0608	10	0.25106	T	0.35	-26.7165	11.3194	0.49412	0.0:0.9062:0.0:0.0938	.	763	Q86Y38	XYLT1_HUMAN	I	763	ENSP00000261381:M763I	ENSP00000261381:M763I	M	-	3	0	XYLT1	17119272	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.656000	0.46716	2.503000	0.84419	0.462000	0.41574	ATG		0.572	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		23	42	1	0	2.48779e-11	1	3.17846e-11	23	42				
OPRM1	4988	broad.mit.edu	37	6	154360660	154360660	+	5'UTR	SNP	C	C	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:154360660C>G	ENST00000330432.7	+	0	218				OPRM1_ENST00000452687.2_5'UTR|OPRM1_ENST00000523520.1_3'UTR|OPRM1_ENST00000419506.2_5'UTR|OPRM1_ENST00000435918.2_5'UTR|OPRM1_ENST00000360422.4_5'UTR|OPRM1_ENST00000337049.4_5'UTR|OPRM1_ENST00000518759.1_Intron|OPRM1_ENST00000414028.2_5'UTR|OPRM1_ENST00000520708.1_Intron|OPRM1_ENST00000428397.2_5'UTR|OPRM1_ENST00000524163.1_5'UTR|OPRM1_ENST00000434900.2_Missense_Mutation_p.A87G|OPRM1_ENST00000229768.5_5'UTR	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1						adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CACAGCGGTGCCCGCCCGGCC	0.632																																						ENST00000434900.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(259-261)gCc>gGc		opioid receptor, mu 1	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)						21.0	29.0	26.0					6																	154360660		2037	4172	6209	SO:0001623	5_prime_UTR_variant	4988				behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	g.chr6:154360660C>G	L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"""GPCR / Class A : Opioid receptors"""	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.-20C>G	6.37:g.154360660C>G						OPRM1_ENST00000229768.5_5'UTR|OPRM1_ENST00000520708.1_Intron|OPRM1_ENST00000414028.2_5'UTR|OPRM1_ENST00000330432.7_5'UTR|OPRM1_ENST00000435918.2_5'UTR|OPRM1_ENST00000523520.1_3'UTR|OPRM1_ENST00000452687.2_5'UTR|OPRM1_ENST00000337049.4_5'UTR|OPRM1_ENST00000419506.2_5'UTR|OPRM1_ENST00000360422.4_5'UTR|OPRM1_ENST00000518759.1_Intron|OPRM1_ENST00000524163.1_5'UTR|OPRM1_ENST00000428397.2_5'UTR	p.A87G	NM_001145279.2	NP_001138751.1	P35372	OPRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	3	778	+		Ovarian(120;0.196)	0					B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Missense_Mutation	SNP	ENST00000330432.7	37	c.260C>G	CCDS55070.1	.	.	.	.	.	.	.	.	.	.	C	9.856	1.194939	0.22037	.	.	ENSG00000112038	ENST00000520282;ENST00000434900	T;T	0.70749	3.87;-0.51	3.44	0.317	0.15861	.	25.302500	0.00357	N	0.000033	T	0.29588	0.0738	N	0.08118	0	0.21325	N	0.999722	B	0.13145	0.007	B	0.13407	0.009	T	0.18147	-1.0346	10	0.48119	T	0.1	.	7.2158	0.25959	0.3599:0.4845:0.1556:0.0	.	87	P35372-10	.	G	42;87	ENSP00000430247:A42G;ENSP00000394624:A87G	ENSP00000394624:A87G	A	+	2	0	OPRM1	154402353	0.004000	0.15560	0.009000	0.14445	0.019000	0.09904	1.230000	0.32612	0.034000	0.15491	-0.995000	0.02519	GCC		0.632	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042786.2	NM_000914		3	8	0	0	0	1	0	3	8				
KDM2B	84678	broad.mit.edu	37	12	121879997	121879997	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr12:121879997A>T	ENST00000377071.4	-	19	3319	c.3247T>A	c.(3247-3249)Tgt>Agt	p.C1083S	KDM2B_ENST00000542973.1_Missense_Mutation_p.C451S|KDM2B_ENST00000377069.4_Missense_Mutation_p.C1014S|KDM2B_ENST00000536437.1_Intron	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1083	F-box.				embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						ATGCACACACACAGGTCTTGG	0.662																																						ENST00000377069.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(3040-3042)Tgt>Agt		lysine (K)-specific demethylase 2B							34.0	38.0	37.0					12																	121879997		2074	4189	6263	SO:0001583	missense	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121879997A>T	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.3247T>A	12.37:g.121879997A>T	ENSP00000366271:p.Cys1083Ser					KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377071.4_Missense_Mutation_p.C1083S|KDM2B_ENST00000542973.1_Missense_Mutation_p.C451S	p.C1014S	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN			18	3446	-			1083			Pro-rich.		A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	c.3040T>A	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	A	31	5.072033	0.93950	.	.	ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043;ENST00000261824	T;T;T	0.16196	2.36;2.36;2.36	5.61	5.61	0.85477	F-box domain, cyclin-like (2);	0.184978	0.38605	N	0.001636	T	0.47229	0.1434	M	0.85630	2.765	0.80722	D	1	P;D;D;P	0.89917	0.637;1.0;1.0;0.914	P;D;D;P	0.87578	0.635;0.998;0.998;0.595	T	0.51068	-0.8752	10	0.49607	T	0.09	-15.0254	15.7995	0.78443	1.0:0.0:0.0:0.0	.	523;1083;1014;526	B7ZB05;Q8NHM5;A8MRS1;B4DSN4	.;KDM2B_HUMAN;.;.	S	1071;451;1014;1083;526;1086	ENSP00000437821:C451S;ENSP00000366269:C1014S;ENSP00000366271:C1083S	ENSP00000261824:C1086S	C	-	1	0	KDM2B	120364380	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.335000	0.96500	2.138000	0.66242	0.528000	0.53228	TGT		0.662	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		5	33	0	0	0	1	0	5	33				
ERC2	26059	broad.mit.edu	37	3	56468959	56468959	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:56468959C>T	ENST00000288221.6	-	2	332	c.77G>A	c.(76-78)cGt>cAt	p.R26H		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	26						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GTGGCCCAAACGAGGAGACCT	0.488																																						ENST00000288221.6																			0				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31						c.(76-78)cGt>cAt		ELKS/RAB6-interacting/CAST family member 2							101.0	97.0	99.0					3																	56468959		1926	4143	6069	SO:0001583	missense	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:56468959C>T	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.77G>A	3.37:g.56468959C>T	ENSP00000288221:p.Arg26His						p.R26H	NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	2	332	-			26					Q2T9F6|Q86TK4	Missense_Mutation	SNP	ENST00000288221.6	37	c.77G>A	CCDS46851.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.931757	0.92389	.	.	ENSG00000187672	ENST00000288221	T	0.57273	0.41	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.68833	0.3044	L	0.52573	1.65	0.58432	D	0.99999	D	0.71674	0.998	D	0.69479	0.964	T	0.70364	-0.4892	10	0.87932	D	0	-14.2274	19.6632	0.95882	0.0:1.0:0.0:0.0	.	26	O15083	ERC2_HUMAN	H	26	ENSP00000288221:R26H	ENSP00000288221:R26H	R	-	2	0	ERC2	56443999	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.786000	0.85741	2.625000	0.88918	0.655000	0.94253	CGT		0.488	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		8	48	0	0	0	1	0	8	48				
CEP78	84131	broad.mit.edu	37	9	80880327	80880327	+	Silent	SNP	A	A	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr9:80880327A>C	ENST00000424347.2	+	14	1954	c.1665A>C	c.(1663-1665)tcA>tcC	p.S555S	CEP78_ENST00000376598.2_Silent_p.S555S|CEP78_ENST00000277082.5_Silent_p.S555S|CEP78_ENST00000376597.4_Silent_p.S556S|CEP78_ENST00000415759.2_Silent_p.S556S			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	555					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						TAGATCAGTCAGATTTTCAAT	0.438																																						ENST00000424347.2																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						c.(1663-1665)tcA>tcC		centrosomal protein 78kDa							52.0	47.0	49.0					9																	80880327		1842	4091	5933	SO:0001819	synonymous_variant	84131				G2/M transition of mitotic cell cycle	centrosome|cytosol		g.chr9:80880327A>C	BC058931	CCDS47984.1, CCDS47985.1	9q21.2	2014-02-20	2005-12-01	2005-12-01	ENSG00000148019	ENSG00000148019			25740	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 81"""	C9orf81		14654843	Standard	NM_001098802		Approved	FLJ12643	uc004aky.4	Q5JTW2	OTTHUMG00000020062	ENST00000424347.2:c.1665A>C	9.37:g.80880327A>C						CEP78_ENST00000376597.4_Silent_p.S556S|CEP78_ENST00000376598.2_Silent_p.S555S|CEP78_ENST00000277082.5_Silent_p.S555S|CEP78_ENST00000415759.2_Silent_p.S556S	p.S555S			Q5JTW2	CEP78_HUMAN			14	1954	+			555					A1A4S8|E9PHX5|Q5BJE3|Q5JTW0|Q5JTW1|Q9H9N3	Silent	SNP	ENST00000424347.2	37	c.1665A>C																																																																																					0.438	CEP78-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000052766.2	XM_095991		5	4	0	0	0	1	0	5	4				
DNAH7	56171	broad.mit.edu	37	2	196765116	196765116	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:196765116T>C	ENST00000312428.6	-	28	4538	c.4438A>G	c.(4438-4440)Aaa>Gaa	p.K1480E		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1480	AAA 1. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GCCACAATTTTTACAGACAGT	0.463																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(4438-4440)Aaa>Gaa		dynein, axonemal, heavy chain 7							175.0	175.0	175.0					2																	196765116		1986	4179	6165	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196765116T>C	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.4438A>G	2.37:g.196765116T>C	ENSP00000311273:p.Lys1480Glu						p.K1480E	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			28	4538	-			1480			AAA 1 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.4438A>G	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	T	19.60	3.857843	0.71834	.	.	ENSG00000118997	ENST00000312428	T	0.13778	2.56	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.51941	0.1704	H	0.96691	3.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69412	-0.5152	10	0.87932	D	0	.	14.5783	0.68265	0.0:0.0:0.0:1.0	.	1480	Q8WXX0	DYH7_HUMAN	E	1480	ENSP00000311273:K1480E	ENSP00000311273:K1480E	K	-	1	0	DNAH7	196473361	1.000000	0.71417	0.324000	0.25361	0.290000	0.27261	7.854000	0.86942	2.122000	0.65172	0.455000	0.32223	AAA		0.463	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		50	131	0	0	0	1	0	50	131				
HMCN1	83872	broad.mit.edu	37	1	186094925	186094925	+	Splice_Site	SNP	T	T	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:186094925T>C	ENST00000271588.4	+	82	12918	c.12689T>C	c.(12688-12690)gTg>gCg	p.V4230A	HMCN1_ENST00000367492.2_Splice_Site_p.V4230A	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4230	Ig-like C2-type 41.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAAAATGTTGTGGTAAGTTTA	0.303																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.e82+1		hemicentin 1							64.0	66.0	65.0					1																	186094925		2203	4300	6503	SO:0001630	splice_region_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186094925T>C	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.12690+1T>C	1.37:g.186094925T>C						HMCN1_ENST00000367492.2_Splice_Site_p.V4230_splice	p.V4230_splice	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			82	12918	+			4230			Ig-like C2-type 41.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Splice_Site	SNP	ENST00000271588.4	37	c.12690_splice	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	T	3.289	-0.145269	0.06627	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.65364	-0.15;-0.15	5.04	-1.63	0.08345	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.429106	0.25156	N	0.032707	T	0.29783	0.0744	N	0.16166	0.38	0.28481	N	0.914934	B	0.15719	0.014	B	0.14023	0.01	T	0.11084	-1.0602	10	0.08381	T	0.77	.	0.9447	0.01363	0.3432:0.1356:0.1204:0.4008	.	4230	Q96RW7	HMCN1_HUMAN	A	4230	ENSP00000271588:V4230A;ENSP00000356462:V4230A	ENSP00000271588:V4230A	V	+	2	0	HMCN1	184361548	1.000000	0.71417	0.968000	0.41197	0.702000	0.40608	1.427000	0.34881	-0.238000	0.09724	-1.415000	0.01116	GTG		0.303	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	Missense_Mutation	14	41	0	0	0	1	0	14	41				
BNIP3P1	319138	broad.mit.edu	37	14	28734043	28734043	+	RNA	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr14:28734043C>A	ENST00000550043.1	+	0	448									BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 1																		AGCTCACAGTCTGAGGAAGAT	0.453																																						ENST00000550043.1																			0																																																			319138							g.chr14:28734043C>A			14q12	2014-02-04	2011-03-18	2011-03-18	ENSG00000197358	ENSG00000197358			19922	pseudogene	pseudogene			"""BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene"""	BNIP3P			Standard	NG_002516		Approved				OTTHUMG00000170378		14.37:g.28734043C>A														0	448	+									RNA	SNP	ENST00000550043.1	37																																																																																						0.453	BNIP3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000408770.1			30	59	1	0	1.75199e-13	1	2.32396e-13	30	59				
MPHOSPH6	10200	broad.mit.edu	37	16	82182435	82182435	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr16:82182435C>G	ENST00000258169.4	-	5	434	c.384G>C	c.(382-384)aaG>aaC	p.K128N	MPHOSPH6_ENST00000563504.1_Missense_Mutation_p.K99N	NM_005792.2	NP_005783.2	Q99547	MPH6_HUMAN	M-phase phosphoprotein 6	128					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(1)|large_intestine(1)|lung(3)	5						TTCTGGCAAACTTTTTCCCAA	0.398																																						ENST00000258169.4																			0				endometrium(1)|large_intestine(1)|lung(3)	5						c.(382-384)aaG>aaC		M-phase phosphoprotein 6							179.0	161.0	167.0					16																	82182435		2201	4300	6501	SO:0001583	missense	10200				M phase of mitotic cell cycle|maturation of 5.8S rRNA	cytoplasm|nucleolus	protein binding|RNA binding	g.chr16:82182435C>G	X98263	CCDS10937.1	16q23.3	2008-03-03			ENSG00000135698	ENSG00000135698			7214	protein-coding gene	gene with protein product		605500				8885239	Standard	NM_005792		Approved	MPP6	uc002fgw.3	Q99547	OTTHUMG00000137632	ENST00000258169.4:c.384G>C	16.37:g.82182435C>G	ENSP00000258169:p.Lys128Asn					MPHOSPH6_ENST00000563504.1_Missense_Mutation_p.K99N	p.K128N	NM_005792.2	NP_005783.2	Q99547	MPH6_HUMAN			5	434	-			128					B2RAF0	Missense_Mutation	SNP	ENST00000258169.4	37	c.384G>C	CCDS10937.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.695635	0.48202	.	.	ENSG00000135698	ENST00000258169	T	0.58060	0.36	5.84	2.84	0.33178	.	0.000000	0.85682	D	0.000000	T	0.48077	0.1480	M	0.72353	2.195	0.80722	D	1	B	0.24618	0.107	B	0.24974	0.057	T	0.49934	-0.8886	10	0.72032	D	0.01	-22.0848	6.2275	0.20716	0.0:0.5789:0.0:0.4211	.	128	Q99547	MPH6_HUMAN	N	128	ENSP00000258169:K128N	ENSP00000258169:K128N	K	-	3	2	MPHOSPH6	80739936	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.958000	0.49145	0.811000	0.34303	0.591000	0.81541	AAG		0.398	MPHOSPH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269058.1	NM_005792		34	101	0	0	0	1	0	34	101				
SFTPA2	729238	broad.mit.edu	37	10	81317057	81317057	+	Missense_Mutation	SNP	G	G	A	rs183941812		TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr10:81317057G>A	ENST00000372325.2	-	6	739	c.655C>T	c.(655-657)Cgg>Tgg	p.R219W	SFTPA2_ENST00000372327.5_Missense_Mutation_p.R219W	NM_001098668.2	NP_001092138.1	Q8IWL1	SFPA2_HUMAN	surfactant protein A2	219	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				respiratory gaseous exchange (GO:0007585)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)			endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			TCTTTTCCCCGACCTGCAGGC	0.557									Pulmonary Fibrosis, Idiopathic				G|||	1	0.000199681	0.0	0.0014	5008	,	,		20593	0.0		0.0	False		,,,				2504	0.0					ENST00000372325.2																			0				endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9						c.(655-657)Cgg>Tgg		surfactant protein A2							231.0	220.0	224.0					10																	81317057		2203	4296	6499	SO:0001583	missense	729238	Pulmonary Fibrosis, Idiopathic	Familial Cancer Database	Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia	cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	sugar binding	g.chr10:81317057G>A		CCDS41540.1	10q22.3	2012-11-02	2008-08-26			ENSG00000185303		"""Collectins"""	10799	protein-coding gene	gene with protein product	"""surfactant, pulmonary-associated protein A2A"""	178642	"""surfactant, pulmonary-associated protein A2"""				Standard	NM_001098668		Approved	SP-A2, COLEC5	uc001kal.4	Q8IWL1		ENST00000372325.2:c.655C>T	10.37:g.81317057G>A	ENSP00000361400:p.Arg219Trp					SFTPA2_ENST00000372327.5_Missense_Mutation_p.R219W	p.R219W	NM_001098668.2	NP_001092138.1	Q8IWL1	SFPA2_HUMAN	Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)		6	739	-	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		219			C-type lectin.		A4QPA7|B2RXI6|B2RXK9|C9J9I7|E3VLC6|E3VLC7|E3VLC8|E3VLC9|P07714|Q14DV3|Q5RIR8|Q5RIR9	Missense_Mutation	SNP	ENST00000372325.2	37	c.655C>T	CCDS41540.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	N	1.476	-0.558389	0.03967	.	.	ENSG00000185303	ENST00000372325;ENST00000537207;ENST00000372327	T;T	0.19532	2.14;2.14	2.81	-2.32	0.06745	.	1.014370	0.07895	N	0.971754	T	0.15435	0.0372	L	0.52266	1.64	0.09310	N	1	B	0.18166	0.026	B	0.12156	0.007	T	0.40156	-0.9578	10	0.52906	T	0.07	-0.026	1.1767	0.01837	0.1408:0.1606:0.2474:0.4512	.	219	E3VLC8	.	W	219;185;219	ENSP00000361400:R219W;ENSP00000361402:R219W	ENSP00000361400:R219W	R	-	1	2	SFTPA2	80987063	0.000000	0.05858	0.054000	0.19295	0.007000	0.05969	-0.016000	0.12613	-0.138000	0.11434	-0.490000	0.04691	CGG		0.557	SFTPA2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048961.1	NM_001098668		25	199	0	0	0	1	0	25	199				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			643955							g.chr7:62752443G>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C								NR_003952.1						0	992	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			5	19	0	0	0	1	0	5	19				
PDGFRA	5156	broad.mit.edu	37	4	55161418	55161418	+	Silent	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:55161418G>T	ENST00000257290.5	+	23	3580	c.3249G>T	c.(3247-3249)ctG>ctT	p.L1083L	FIP1L1_ENST00000507166.1_Silent_p.L843L	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	1083	Ser-rich.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	CTTCAGACCTGGTGGAAGACA	0.512			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5				Dom	yes		4	4q11-q13	5156	"""Mis, O, T"""	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""		0				NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(3247-3249)ctG>ctT		platelet-derived growth factor receptor, alpha polypeptide	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						147.0	135.0	140.0					4																	55161418		2203	4300	6503	SO:0001819	synonymous_variant	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55161418G>T	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.3249G>T	4.37:g.55161418G>T		TSP Lung(21;0.16)				FIP1L1_ENST00000507166.1_Silent_p.L843L	p.L1083L	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		23	3580	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		1083			Ser-rich.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Silent	SNP	ENST00000257290.5	37	c.3249G>T	CCDS3495.1																																																																																				0.512	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		34	106	1	0	6.29468e-14	1	8.44912e-14	34	106				
PCDH20	64881	broad.mit.edu	37	13	61986650	61986650	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr13:61986650C>T	ENST00000409186.1	-	5	3687	c.1582G>A	c.(1582-1584)Gac>Aac	p.D528N	PCDH20_ENST00000409204.4_Missense_Mutation_p.D528N			Q8N6Y1	PCD20_HUMAN	protocadherin 20	528	Cadherin 3. {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)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TTATCATTGTCATCTAAAAGT	0.398																																						ENST00000409186.1																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(1582-1584)Gac>Aac		protocadherin 20							146.0	148.0	147.0					13																	61986650		2203	4300	6503	SO:0001583	missense	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61986650C>T	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.1582G>A	13.37:g.61986650C>T	ENSP00000386653:p.Asp528Asn					PCDH20_ENST00000409204.4_Missense_Mutation_p.D528N	p.D528N			Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	5	3687	-		Breast(118;0.195)|Prostate(109;0.229)	501			Cadherin 4.		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	c.1582G>A	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	C	15.36	2.810418	0.50421	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.60672	0.17;0.17	6.06	6.06	0.98353	.	0.000000	0.64402	D	0.000002	T	0.53142	0.1778	L	0.44542	1.39	0.48762	D	0.999701	P	0.34462	0.454	B	0.29663	0.105	T	0.53535	-0.8425	10	0.56958	D	0.05	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	528	A8K1K9	.	N	528;528;274	ENSP00000387250:D528N;ENSP00000386653:D528N	ENSP00000351500:D274N	D	-	1	0	PCDH20	60884651	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.020000	0.70826	2.880000	0.98712	0.650000	0.86243	GAC		0.398	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		46	94	0	0	0	1	0	46	94				
GABRA2	2555	broad.mit.edu	37	4	46252411	46252411	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:46252411C>G	ENST00000510861.1	-	10	1443	c.1270G>C	c.(1270-1272)Gtt>Ctt	p.V424L	GABRA2_ENST00000507069.1_Missense_Mutation_p.V484L|GABRA2_ENST00000540012.1_Missense_Mutation_p.V429L|GABRA2_ENST00000514090.1_Missense_Mutation_p.V424L|GABRA2_ENST00000381620.4_Missense_Mutation_p.V424L|GABRA2_ENST00000356504.1_Missense_Mutation_p.V424L			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	424					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	ACTGGAAAAACTATTCTGGAC	0.393																																						ENST00000510861.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56						c.(1270-1272)Gtt>Ctt		gamma-aminobutyric acid (GABA) A receptor, alpha 2	Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						146.0	150.0	148.0					4																	46252411		2203	4299	6502	SO:0001583	missense	2555				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46252411C>G		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.1270G>C	4.37:g.46252411C>G	ENSP00000421828:p.Val424Leu					GABRA2_ENST00000381620.4_Missense_Mutation_p.V424L|GABRA2_ENST00000540012.1_Missense_Mutation_p.V429L|GABRA2_ENST00000514090.1_Missense_Mutation_p.V424L|GABRA2_ENST00000356504.1_Missense_Mutation_p.V424L|GABRA2_ENST00000507069.1_Missense_Mutation_p.V484L	p.V424L			P47869	GBRA2_HUMAN			10	1443	-			424					A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	ENST00000510861.1	37	c.1270G>C	CCDS3471.1	.	.	.	.	.	.	.	.	.	.	C	1.810	-0.474836	0.04414	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069	D;D;D;D;D;T	0.85629	-1.5;-1.5;-1.5;-1.5;-2.01;-0.52	5.96	5.96	0.96718	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.164203	0.53938	D	0.000051	T	0.77711	0.4171	N	0.20304	0.555	0.41952	D	0.99066	B;B	0.26635	0.155;0.001	B;B	0.29353	0.101;0.007	T	0.71902	-0.4452	10	0.15499	T	0.54	.	19.3998	0.94623	0.0:1.0:0.0:0.0	.	429;424	B7Z1H8;P47869	.;GBRA2_HUMAN	L	424;424;424;424;429;484	ENSP00000421828:V424L;ENSP00000421300:V424L;ENSP00000371033:V424L;ENSP00000348897:V424L;ENSP00000444409:V429L;ENSP00000427603:V484L	ENSP00000348897:V424L	V	-	1	0	GABRA2	45947168	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.431000	0.34925	2.827000	0.97445	0.655000	0.94253	GTT		0.393	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2			34	105	0	0	0	1	0	34	105				
SLC39A8	64116	broad.mit.edu	37	4	103225478	103225478	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:103225478A>G	ENST00000394833.2	-	5	1312	c.836T>C	c.(835-837)cTa>cCa	p.L279P	SLC39A8_ENST00000510255.1_5'Flank|SLC39A8_ENST00000424970.2_Missense_Mutation_p.L279P|SLC39A8_ENST00000356736.4_Missense_Mutation_p.L279P	NM_001135148.1|NM_022154.5	NP_001128620.1|NP_071437.3	Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter), member 8	279					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)|plasma membrane (GO:0005886)	metal ion transmembrane transporter activity (GO:0046873)			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		ATATACCTGTAGAGATACCAC	0.348																																						ENST00000424970.2																			0				large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(835-837)cTa>cCa		solute carrier family 39 (zinc transporter), member 8							125.0	111.0	116.0					4																	103225478		2203	4300	6503	SO:0001583	missense	64116					integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity	g.chr4:103225478A>G		CCDS3656.1, CCDS47117.1	4q22-q24	2013-05-22			ENSG00000138821	ENSG00000138821		"""Solute carriers"""	20862	protein-coding gene	gene with protein product		608732	"""solute carrier family 39 (metal ion transporter), member 8"""			12504855, 12659941	Standard	NM_001135146		Approved	BIGM103	uc003hwc.2	Q9C0K1	OTTHUMG00000131120	ENST00000394833.2:c.836T>C	4.37:g.103225478A>G	ENSP00000378310:p.Leu279Pro					SLC39A8_ENST00000394833.2_Missense_Mutation_p.L279P|SLC39A8_ENST00000356736.4_Missense_Mutation_p.L279P	p.L279P	NM_001135147.1	NP_001128619.1	Q9C0K1	S39A8_HUMAN		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)	6	1151	-		Hepatocellular(203;0.217)	279					B4E2H3|Q96SM9|Q9BVC0|Q9NSA4	Missense_Mutation	SNP	ENST00000394833.2	37	c.836T>C	CCDS3656.1	.	.	.	.	.	.	.	.	.	.	A	12.06	1.824350	0.32237	.	.	ENSG00000138821	ENST00000424970;ENST00000356736;ENST00000394833	T;T;T	0.47177	0.85;0.85;0.85	4.81	4.81	0.61882	.	0.649176	0.14397	N	0.322142	T	0.35970	0.0950	N	0.17082	0.46	0.52099	D	0.999946	P;B;B	0.49696	0.927;0.003;0.001	P;B;B	0.48952	0.596;0.008;0.003	T	0.05989	-1.0852	10	0.30078	T	0.28	-30.2356	6.046	0.19760	0.8089:0.0:0.1911:0.0	.	279;279;212	B4E2H3;Q9C0K1;Q9C0K1-2	.;S39A8_HUMAN;.	P	279	ENSP00000394548:L279P;ENSP00000349174:L279P;ENSP00000378310:L279P	ENSP00000349174:L279P	L	-	2	0	SLC39A8	103444501	0.544000	0.26441	0.700000	0.30305	0.891000	0.51852	2.114000	0.41911	1.930000	0.55929	0.528000	0.53228	CTA		0.348	SLC39A8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253798.1	NM_022154		19	52	0	0	0	1	0	19	52				
FUT6	2528	broad.mit.edu	37	19	5831891	5831891	+	Missense_Mutation	SNP	G	G	T	rs364637		TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:5831891G>T	ENST00000318336.4	-	3	1882	c.688C>A	c.(688-690)Cag>Aag	p.Q230K	FUT6_ENST00000286955.5_Missense_Mutation_p.Q230K|FUT6_ENST00000527106.1_Missense_Mutation_p.Q230K|FUT6_ENST00000524754.1_Missense_Mutation_p.Q230K|FUT6_ENST00000592563.1_Missense_Mutation_p.Q230K	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	230			Q -> K (in dbSNP:rs364637).		fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						ATGGTTCCCTGGGGCAGGGGC	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		17237	0.0		0.0	False		,,,				2504	0.001					ENST00000318336.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						c.(688-690)Cag>Aag		fucosyltransferase 6 (alpha (1,3) fucosyltransferase)		G	LYS/GLN,LYS/GLN	0,4406		0,0,2203	131.0	125.0	127.0		688,688	-3.5	0.0	19	dbSNP_80	127	2,8598	1.2+/-3.3	0,2,4298	no	missense,missense	FUT6	NM_000150.2,NM_001040701.1	53,53	0,2,6501	TT,TG,GG		0.0233,0.0,0.0154	benign,benign	230/360,230/360	5831891	2,13004	2203	4300	6503	SO:0001583	missense	2528				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity	g.chr19:5831891G>T		CCDS12152.1	19p13.3	2013-02-26			ENSG00000156413	ENSG00000156413	2.4.1.65	"""Fucosyltransferases"""	4017	protein-coding gene	gene with protein product	"""alpha-(1,3)-fucosyltransferase"", ""galactoside 3-L-fucosyltransferase"""	136836				1520296, 7782074	Standard	NM_001040701		Approved	FT1A, FCT3A, FucT-VI, FLJ40754	uc002mdh.1	P51993	OTTHUMG00000167335	ENST00000318336.4:c.688C>A	19.37:g.5831891G>T	ENSP00000313398:p.Gln230Lys					FUT6_ENST00000592563.1_Missense_Mutation_p.Q230K|FUT6_ENST00000524754.1_Missense_Mutation_p.Q230K|FUT6_ENST00000286955.5_Missense_Mutation_p.Q230K|FUT6_ENST00000527106.1_Missense_Mutation_p.Q230K	p.Q230K	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN			3	1882	-			230		Q -> K (in dbSNP:rs364637).			A6NEX0|D6W637|Q9UND8	Missense_Mutation	SNP	ENST00000318336.4	37	c.688C>A	CCDS12152.1	.	.	.	.	.	.	.	.	.	.	G	0.026	-1.367948	0.01225	0.0	2.33E-4	ENSG00000156413	ENST00000524754;ENST00000527106;ENST00000318336;ENST00000286955;ENST00000341530	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	3.07	-3.46	0.04767	.	20.777600	0.00757	U	0.001117	T	0.05090	0.0136	N	0.01405	-0.89	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31779	-0.9931	10	0.02654	T	1	.	1.4553	0.02383	0.1217:0.3101:0.2549:0.3134	rs364637;rs2561799;rs16993172;rs364637	230;230	C9J8A2;P51993	.;FUT6_HUMAN	K	230	ENSP00000431708:Q230K;ENSP00000432954:Q230K;ENSP00000313398:Q230K;ENSP00000286955:Q230K	ENSP00000286955:Q230K	Q	-	1	0	FUT6	5782891	0.000000	0.05858	0.008000	0.14137	0.010000	0.07245	-3.750000	0.00376	-0.237000	0.09739	-1.338000	0.01255	CAG		0.612	FUT6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394218.2	NM_000150		16	77	1	0	1.1804e-14	1	1.61321e-14	16	77				
COL10A1	1300	broad.mit.edu	37	6	116442113	116442113	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:116442113C>T	ENST00000327673.4	-	2	1573	c.1166G>A	c.(1165-1167)gGg>gAg	p.G389E	AL121963.1_ENST00000430695.1_5'Flank|NT5DC1_ENST00000319550.4_Intron|COL10A1_ENST00000243222.4_Missense_Mutation_p.G389E			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	389	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	cell cortex (GO:0005938)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		TCCTGGGTACCCTGGTTTTCC	0.597																																						ENST00000327673.4																			0				central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13						c.(1165-1167)gGg>gAg		collagen, type X, alpha 1							61.0	61.0	61.0					6																	116442113		2203	4300	6503	SO:0001583	missense	1300				skeletal system development	collagen	metal ion binding	g.chr6:116442113C>T		CCDS5105.1	6q21-q22	2013-01-16	2008-07-29		ENSG00000123500	ENSG00000123500		"""Collagens"""	2185	protein-coding gene	gene with protein product	"""Schmid metaphyseal chondrodysplasia"""	120110				2037056	Standard	XM_006715332		Approved		uc003pwm.3	Q03692	OTTHUMG00000015426	ENST00000327673.4:c.1166G>A	6.37:g.116442113C>T	ENSP00000327368:p.Gly389Glu					COL10A1_ENST00000243222.4_Missense_Mutation_p.G389E|NT5DC1_ENST00000319550.4_Intron	p.G389E			Q03692	COAA1_HUMAN		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)	2	1573	-		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)	389			Triple-helical region.		A1L4P2	Missense_Mutation	SNP	ENST00000327673.4	37	c.1166G>A	CCDS5105.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212050	0.58452	.	.	ENSG00000123500	ENST00000243222;ENST00000327673	D;D	0.99619	-6.28;-6.28	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.99859	0.9934	H	0.98487	4.245	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96671	0.9496	10	0.87932	D	0	.	19.0433	0.93010	0.0:1.0:0.0:0.0	.	389	Q03692	COAA1_HUMAN	E	389	ENSP00000243222:G389E;ENSP00000327368:G389E	ENSP00000243222:G389E	G	-	2	0	COL10A1	116548806	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	7.606000	0.82863	2.797000	0.96272	0.555000	0.69702	GGG		0.597	COL10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041926.1			18	35	0	0	0	1	0	18	35				
BTC	685	broad.mit.edu	37	4	75675872	75675872	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:75675872T>A	ENST00000395743.3	-	4	699	c.339A>T	c.(337-339)agA>agT	p.R113S		NM_001729.2	NP_001720.1	P35070	BTC_HUMAN	betacellulin	113					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mitosis (GO:0045840)|positive regulation of urine volume (GO:0035810)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(101;0.219)			CTCTGTCTCCTCTTAGGTAAA	0.398																																						ENST00000395743.3																			0				central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10						c.(337-339)agA>agT		betacellulin							208.0	218.0	215.0					4																	75675872		2203	4300	6503	SO:0001583	missense	685				positive regulation of cell division|positive regulation of cell proliferation	extracellular space|integral to membrane|plasma membrane|soluble fraction	epidermal growth factor receptor binding|growth factor activity	g.chr4:75675872T>A	S55606	CCDS3566.1	4q13.3	2012-09-20			ENSG00000174808	ENSG00000174808			1121	protein-coding gene	gene with protein product		600345				8439318, 11522793	Standard	NM_001729		Approved		uc003hig.2	P35070	OTTHUMG00000130107	ENST00000395743.3:c.339A>T	4.37:g.75675872T>A	ENSP00000379092:p.Arg113Ser						p.R113S	NM_001729.2	NP_001720.1	P35070	BTC_HUMAN	Lung(101;0.219)		4	699	-			113					Q96F48	Missense_Mutation	SNP	ENST00000395743.3	37	c.339A>T	CCDS3566.1	.	.	.	.	.	.	.	.	.	.	T	14.58	2.578287	0.45902	.	.	ENSG00000174808	ENST00000395743	T	0.31510	1.49	5.32	1.7	0.24286	.	0.456453	0.24174	N	0.040871	T	0.21718	0.0523	L	0.48642	1.525	0.20563	N	0.999888	P	0.43352	0.804	B	0.36464	0.225	T	0.10337	-1.0634	10	0.45353	T	0.12	-12.8383	7.5063	0.27547	0.0:0.2689:0.0:0.7311	.	113	P35070	BTC_HUMAN	S	113	ENSP00000379092:R113S	ENSP00000379092:R113S	R	-	3	2	BTC	75894896	0.896000	0.30565	0.303000	0.25071	0.953000	0.61014	1.064000	0.30579	0.532000	0.28657	0.460000	0.39030	AGA		0.398	BTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252413.1			36	146	0	0	0	1	0	36	146				
DNAH7	56171	broad.mit.edu	37	2	196765106	196765106	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:196765106G>C	ENST00000312428.6	-	28	4548	c.4448C>G	c.(4447-4449)gCt>gGt	p.A1483G		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1483	AAA 1. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GCGATACGTAGCCACAATTTT	0.458																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(4447-4449)gCt>gGt		dynein, axonemal, heavy chain 7							176.0	176.0	176.0					2																	196765106		2002	4180	6182	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196765106G>C	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.4448C>G	2.37:g.196765106G>C	ENSP00000311273:p.Ala1483Gly						p.A1483G	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			28	4548	-			1483			AAA 1 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.4448C>G	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437683	0.62955	.	.	ENSG00000118997	ENST00000312428	T	0.40476	1.03	5.02	4.15	0.48705	.	0.000000	0.85682	D	0.000000	T	0.64260	0.2582	M	0.82193	2.58	0.80722	D	1	D	0.55800	0.973	D	0.65010	0.931	T	0.69731	-0.5066	10	0.62326	D	0.03	.	13.0665	0.59036	0.0781:0.0:0.9219:0.0	.	1483	Q8WXX0	DYH7_HUMAN	G	1483	ENSP00000311273:A1483G	ENSP00000311273:A1483G	A	-	2	0	DNAH7	196473351	1.000000	0.71417	0.898000	0.35279	0.377000	0.30045	3.869000	0.56062	1.357000	0.45904	0.557000	0.71058	GCT		0.458	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		50	120	0	0	0	1	0	50	120				
FETUB	26998	broad.mit.edu	37	3	186358445	186358445	+	Missense_Mutation	SNP	C	C	G	rs367977932		TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:186358445C>G	ENST00000265029.3	+	1	297	c.196C>G	c.(196-198)Cga>Gga	p.R66G	RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000539949.1_Intron|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000450521.1_Missense_Mutation_p.R66G|FETUB_ENST00000382134.3_Missense_Mutation_p.R66G|FETUB_ENST00000488561.1_3'UTR|FETUB_ENST00000382136.3_Missense_Mutation_p.R66G	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	66	Cystatin fetuin-B-type 1. {ECO:0000255|PROSITE-ProRule:PRU00862}.				binding of sperm to zona pellucida (GO:0007339)|negative regulation of endopeptidase activity (GO:0010951)|single fertilization (GO:0007338)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)	p.R66*(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		GAGACTCAACCGAGTGAACGA	0.572																																						ENST00000265029.3																			1	Substitution - Nonsense(1)	p.R66*(1)	large_intestine(1)	endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20						c.(196-198)Cga>Gga		fetuin B							132.0	140.0	137.0					3																	186358445		2203	4300	6503	SO:0001583	missense	26998					extracellular space	cysteine-type endopeptidase inhibitor activity	g.chr3:186358445C>G	AJ242928	CCDS3279.1	3q27.3	2008-05-15			ENSG00000090512	ENSG00000090512			3658	protein-coding gene	gene with protein product		605954				10947975	Standard	XM_005247350		Approved		uc003fqn.3	Q9UGM5	OTTHUMG00000156586	ENST00000265029.3:c.196C>G	3.37:g.186358445C>G	ENSP00000265029:p.Arg66Gly					FETUB_ENST00000382134.3_Missense_Mutation_p.R66G|FETUB_ENST00000382136.3_Missense_Mutation_p.R66G|FETUB_ENST00000539949.1_Intron|FETUB_ENST00000488561.1_3'UTR|FETUB_ENST00000450521.1_Missense_Mutation_p.R66G	p.R66G	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)	1	297	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		66			Cystatin fetuin-B-type 1.		B2RCW6|E9PG06|Q1RMZ0|Q5J876|Q6DK58|Q6GRB6|Q9Y6Z0	Missense_Mutation	SNP	ENST00000265029.3	37	c.196C>G	CCDS3279.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.620105	0.66787	.	.	ENSG00000090512	ENST00000450521;ENST00000265029;ENST00000382134;ENST00000382136	T;T;T;T	0.44482	1.6;1.6;0.92;0.92	5.17	3.32	0.38043	Proteinase inhibitor I25C, fetuin, conserved site (1);Proteinase inhibitor I25, cystatin (2);	0.137251	0.33916	N	0.004427	T	0.64800	0.2631	M	0.89414	3.03	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.978;0.999	T	0.65915	-0.6052	10	0.87932	D	0	-14.1746	6.7457	0.23460	0.1819:0.7253:0.0:0.0928	.	66;66;66	E9PG06;E9PG08;Q9UGM5	.;.;FETUB_HUMAN	G	66	ENSP00000404288:R66G;ENSP00000265029:R66G;ENSP00000371569:R66G;ENSP00000371571:R66G	ENSP00000265029:R66G	R	+	1	2	FETUB	187841139	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.472000	0.45136	0.790000	0.33803	0.591000	0.81541	CGA		0.572	FETUB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344679.1	NM_014375		39	126	0	0	0	1	0	39	126				
CSMD3	114788	broad.mit.edu	37	8	113569034	113569034	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr8:113569034C>A	ENST00000297405.5	-	25	4436	c.4192G>T	c.(4192-4194)Ggg>Tgg	p.G1398W	CSMD3_ENST00000343508.3_Missense_Mutation_p.G1358W|CSMD3_ENST00000455883.2_Missense_Mutation_p.G1294W|CSMD3_ENST00000352409.3_Missense_Mutation_p.G1398W	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1398	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.					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						CTTCTCTCCCCTGTCATGCAC	0.438										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.(4192-4194)Ggg>Tgg		CUB and Sushi multiple domains 3							111.0	100.0	104.0					8																	113569034		2203	4299	6502	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113569034C>A	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.4192G>T	8.37:g.113569034C>A	ENSP00000297405:p.Gly1398Trp	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000455883.2_Missense_Mutation_p.G1294W|CSMD3_ENST00000352409.3_Missense_Mutation_p.G1398W|CSMD3_ENST00000343508.3_Missense_Mutation_p.G1358W	p.G1398W	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			25	4436	-			1398			Sushi 7.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.4192G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.580534	0.86645	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76	5.11	5.11	0.69529	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	T	0.65333	0.2681	H	0.95816	3.725	0.51767	D	0.99993	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.91635	0.999;0.999;0.977	T	0.76427	-0.2963	10	0.66056	D	0.02	.	18.7287	0.91726	0.0:1.0:0.0:0.0	.	1294;1398;1358	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	W	1358;1398;738;1294;1398	ENSP00000345799:G1358W;ENSP00000297405:G1398W;ENSP00000341558:G738W;ENSP00000412263:G1294W;ENSP00000343124:G1398W	ENSP00000297405:G1398W	G	-	1	0	CSMD3	113638210	1.000000	0.71417	0.995000	0.50966	0.974000	0.67602	7.651000	0.83577	2.660000	0.90430	0.655000	0.94253	GGG		0.438	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		19	70	1	0	8.34094e-07	1	9.35762e-07	19	70				
CPT1A	1374	broad.mit.edu	37	11	68548156	68548156	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr11:68548156G>T	ENST00000265641.5	-	12	1564	c.1410C>A	c.(1408-1410)aaC>aaA	p.N470K	CPT1A_ENST00000539743.1_Missense_Mutation_p.N470K|CPT1A_ENST00000376618.2_Missense_Mutation_p.N470K|CPT1A_ENST00000540367.1_Missense_Mutation_p.N470K	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	470					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	AGTGTTCAGCGTTGAGGCCCA	0.463																																						ENST00000265641.5																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1408-1410)aaC>aaA		carnitine palmitoyltransferase 1A (liver)	L-Carnitine(DB00583)|Perhexiline(DB01074)						142.0	120.0	127.0					11																	68548156		2200	4294	6494	SO:0001583	missense	1374				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr11:68548156G>T	L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.1410C>A	11.37:g.68548156G>T	ENSP00000265641:p.Asn470Lys					CPT1A_ENST00000376618.2_Missense_Mutation_p.N470K|CPT1A_ENST00000540367.1_Missense_Mutation_p.N470K|CPT1A_ENST00000539743.1_Missense_Mutation_p.N470K	p.N470K	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		12	1564	-	Esophageal squamous(3;3.28e-14)		470					Q8TCU0|Q9BWK0	Missense_Mutation	SNP	ENST00000265641.5	37	c.1410C>A	CCDS8185.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.783844	0.31593	.	.	ENSG00000110090	ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743	D;D;D;D	0.90676	-2.71;-2.71;-2.71;-2.71	5.19	-6.33	0.01988	.	0.000000	0.85682	D	0.000000	D	0.96018	0.8703	H	0.97051	3.93	0.45946	D	0.998775	D;D	0.89917	0.999;1.0	D;D	0.81914	0.99;0.995	D	0.94870	0.8029	10	0.66056	D	0.02	.	16.2293	0.82321	0.6835:0.0:0.3165:0.0	.	470;470	P50416;P50416-2	CPT1A_HUMAN;.	K	470	ENSP00000439084:N470K;ENSP00000365803:N470K;ENSP00000265641:N470K;ENSP00000446108:N470K	ENSP00000265641:N470K	N	-	3	2	CPT1A	68304732	0.386000	0.25180	0.000000	0.03702	0.022000	0.10575	-0.187000	0.09656	-2.024000	0.00936	-1.202000	0.01658	AAC		0.463	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	NM_001876		101	52	1	0	1.14904e-54	1	1.67166e-54	101	52				
SLC13A1	6561	broad.mit.edu	37	7	122759279	122759279	+	Silent	SNP	C	C	T	rs377566372		TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:122759279C>T	ENST00000194130.2	-	13	1407	c.1368G>A	c.(1366-1368)aaG>aaA	p.K456K	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	456					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	TTCCTATCCACTTAGATAATC	0.308																																						ENST00000194130.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45						c.(1366-1368)aaG>aaA		solute carrier family 13 (sodium/sulfate symporter), member 1	Succinic acid(DB00139)	C		0,4406		0,0,2203	64.0	69.0	68.0		1368	-2.2	0.5	7		68	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	SLC13A1	NM_022444.3		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		456/596	122759279	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	6561					integral to membrane|plasma membrane	sodium:sulfate symporter activity	g.chr7:122759279C>T		CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"""Solute carriers"""	10916	protein-coding gene	gene with protein product		606193	"""solute carrier family 13 (sodium/sulphate symporters), member 1"""			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.1368G>A	7.37:g.122759279C>T						SLC13A1_ENST00000539873.1_3'UTR	p.K456K	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN			13	1407	-			456					Q9H5Z0	Silent	SNP	ENST00000194130.2	37	c.1368G>A	CCDS5786.1																																																																																				0.308	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444		15	37	0	0	0	1	0	15	37				
SETD1A	9739	broad.mit.edu	37	16	30977521	30977521	+	Silent	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr16:30977521C>T	ENST00000262519.8	+	8	3005	c.2319C>T	c.(2317-2319)ccC>ccT	p.P773P		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	773					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GGCTGCCACCCAGGGAAGAAG	0.667																																						ENST00000262519.8																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						c.(2317-2319)ccC>ccT		SET domain containing 1A							24.0	25.0	25.0					16																	30977521		2195	4300	6495	SO:0001819	synonymous_variant	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30977521C>T	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.2319C>T	16.37:g.30977521C>T							p.P773P	NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN			8	3005	+			773					A6NP62|Q6PIF3|Q8TAJ6	Silent	SNP	ENST00000262519.8	37	c.2319C>T	CCDS32435.1																																																																																				0.667	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		7	31	0	0	0	1	0	7	31				
SALL2	6297	broad.mit.edu	37	14	21991721	21991721	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr14:21991721A>C	ENST00000327430.3	-	2	2435	c.2141T>G	c.(2140-2142)cTg>cGg	p.L714R	AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000450879.2_Missense_Mutation_p.L577R|SALL2_ENST00000317492.5_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	714					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(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CTGGCCCCCCAGGTGCATCCG	0.607																																						ENST00000327430.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43						c.(2140-2142)cTg>cGg		spalt-like transcription factor 2							65.0	60.0	62.0					14																	21991721		2203	4300	6503	SO:0001583	missense	6297						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21991721A>C	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"""Zinc fingers, C2H2-type"""	10526	protein-coding gene	gene with protein product		602219	"""sal (Drosophila)-like 2"", ""sal-like 2 (Drosophila)"""			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.2141T>G	14.37:g.21991721A>C	ENSP00000333537:p.Leu714Arg					SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_Missense_Mutation_p.L577R	p.L714R	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN		GBM - Glioblastoma multiforme(265;0.0151)	2	2435	-	all_cancers(95;0.000662)		714					B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Missense_Mutation	SNP	ENST00000327430.3	37	c.2141T>G	CCDS32045.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.72|18.72	3.683573|3.683573	0.68157|0.68157	.|.	.|.	ENSG00000165821|ENSG00000165821	ENST00000327430;ENST00000450879|ENST00000546363	T;T|.	0.04083|.	3.76;3.71|.	4.63|4.63	4.63|4.63	0.57726|0.57726	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	0.000000|.	0.31188|.	N|.	0.008091|.	T|T	0.37404|0.37404	0.1002|0.1002	N|N	0.11313|0.11313	0.125|0.125	0.51767|0.51767	D|D	0.999938|0.999938	D;D;D;D|.	0.76494|.	0.999;0.999;0.999;0.999|.	D;D;D;D|.	0.87578|.	0.977;0.977;0.977;0.998|.	T|T	0.22871|0.22871	-1.0204|-1.0204	10|5	0.72032|.	D|.	0.01|.	-9.2468|-9.2468	12.0317|12.0317	0.53401|0.53401	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	577;577;475;714|.	B4DK65;E7EW59;B4DFD9;Q9Y467|.	.;.;.;SALL2_HUMAN|.	R|G	714;577|573	ENSP00000333537:L714R;ENSP00000396773:L577R|.	ENSP00000333537:L714R|.	L|W	-|-	2|1	0|0	SALL2|SALL2	21061561|21061561	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.656000|0.656000	0.38851|0.38851	9.139000|9.139000	0.94554|0.94554	1.942000|1.942000	0.56320|0.56320	0.379000|0.379000	0.24179|0.24179	CTG|TGG		0.607	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407		8	32	0	0	0	1	0	8	32				
NLRP8	126205	broad.mit.edu	37	19	56459511	56459511	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:56459511G>T	ENST00000291971.3	+	1	314	c.243G>T	c.(241-243)tgG>tgT	p.W81C	NLRP8_ENST00000590542.1_Missense_Mutation_p.W81C	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	81	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CAGCCAGCTGGGCAGAGGTGG	0.522																																						ENST00000291971.3																			0				breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(241-243)tgG>tgT		NLR family, pyrin domain containing 8							104.0	92.0	96.0					19																	56459511		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56459511G>T	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.243G>T	19.37:g.56459511G>T	ENSP00000291971:p.Trp81Cys					NLRP8_ENST00000590542.1_Missense_Mutation_p.W81C	p.W81C	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	1	314	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	81			DAPIN.		Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.243G>T	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	4.394	0.072797	0.08436	.	.	ENSG00000179709	ENST00000291971	T	0.48201	0.82	2.23	-0.193	0.13244	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.29158	0.0725	N	0.22421	0.69	0.09310	N	1	B;B	0.22211	0.057;0.066	B;B	0.25884	0.048;0.064	T	0.22591	-1.0212	9	0.38643	T	0.18	.	4.3589	0.11192	0.0:0.2568:0.4807:0.2625	.	81;81	Q86W28-2;Q86W28	.;NALP8_HUMAN	C	81	ENSP00000291971:W81C	ENSP00000291971:W81C	W	+	3	0	NLRP8	61151323	0.152000	0.22762	0.002000	0.10522	0.041000	0.13682	0.605000	0.24179	0.043000	0.15746	0.514000	0.50259	TGG		0.522	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		16	39	1	0	2.31682e-05	1	2.49376e-05	16	39				
CDH9	1007	broad.mit.edu	37	5	26903772	26903772	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr5:26903772G>T	ENST00000231021.4	-	6	1145	c.973C>A	c.(973-975)Cag>Aag	p.Q325K		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	325	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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						ATCCCTTCCTGTGTATCCTTG	0.398																																					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.(973-975)Cag>Aag		cadherin 9, type 2 (T1-cadherin)							256.0	232.0	240.0					5																	26903772		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.chr5:26903772G>T	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.973C>A	5.37:g.26903772G>T	ENSP00000231021:p.Gln325Lys						p.Q325K	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			6	1145	-			325			Cadherin 3.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.973C>A	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.821366	0.90873	.	.	ENSG00000113100	ENST00000231021	T	0.37235	1.21	5.74	5.74	0.90152	Cadherin (5);Cadherin-like (1);	0.174050	0.52532	D	0.000075	T	0.46580	0.1400	L	0.43152	1.355	0.50039	D	0.999849	B	0.30033	0.266	P	0.45946	0.498	T	0.19257	-1.0311	9	.	.	.	.	18.906	0.92462	0.0:0.0:1.0:0.0	.	325	Q9ULB4	CADH9_HUMAN	K	325	ENSP00000231021:Q325K	.	Q	-	1	0	CDH9	26939529	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.720000	0.98763	2.881000	0.98747	0.650000	0.86243	CAG		0.398	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		55	154	1	0	6.3237e-29	1	9.08277e-29	55	154				
POLR2A	5430	broad.mit.edu	37	17	7399318	7399318	+	Missense_Mutation	SNP	G	G	C	rs150809300		TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr17:7399318G>C	ENST00000322644.6	+	2	551	c.152G>C	c.(151-153)cGc>cCc	p.R51P	POLR2A_ENST00000572844.1_Missense_Mutation_p.R51P	NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	51					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GAGGGAGGCCGCCCCAAGCTT	0.592																																						ENST00000322644.6																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50						c.(151-153)cGc>cCc		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							51.0	57.0	55.0					17																	7399318		2202	4300	6502	SO:0001583	missense	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7399318G>C			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.152G>C	17.37:g.7399318G>C	ENSP00000314949:p.Arg51Pro					POLR2A_ENST00000572844.1_Missense_Mutation_p.R51P	p.R51P	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN			2	551	+		Prostate(122;0.173)	51					A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.152G>C	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.509762	0.85282	.	.	ENSG00000181222	ENST00000322644	T	0.23754	1.89	5.33	5.33	0.75918	RNA polymerase Rpb1, domain 1 (1);	0.000000	0.85682	D	0.000000	T	0.50051	0.1593	M	0.79011	2.435	0.80722	D	1	D;P	0.53619	0.961;0.888	P;P	0.58331	0.837;0.719	T	0.54616	-0.8267	10	0.87932	D	0	.	17.783	0.88529	0.0:0.0:1.0:0.0	.	51;51	P24928;Q6NX41	RPB1_HUMAN;.	P	51	ENSP00000314949:R51P	ENSP00000314949:R51P	R	+	2	0	SLC35G6	7340042	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.205000	0.77881	2.499000	0.84300	0.467000	0.42956	CGC		0.592	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		14	47	0	0	0	1	0	14	47				
CERS2	29956	broad.mit.edu	37	1	150938997	150938997	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:150938997C>G	ENST00000271688.6	-	10	1343	c.957G>C	c.(955-957)tgG>tgC	p.W319C	CERS2_ENST00000561294.1_Missense_Mutation_p.W310C|RP11-316M1.12_ENST00000561111.1_RNA|RP11-316M1.12_ENST00000560481.1_RNA|CERS2_ENST00000345896.4_5'UTR|CERS2_ENST00000368954.5_Missense_Mutation_p.W319C	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN	ceramide synthase 2	319	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear membrane (GO:0031965)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										TGAGGTAGGCCCAGAAGATAT	0.478																																						ENST00000271688.6																			0											c.(955-957)tgG>tgC		ceramide synthase 2							89.0	81.0	84.0					1																	150938997		2203	4300	6503	SO:0001583	missense	29956					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr1:150938997C>G	AF189062	CCDS973.1	1q21.3	2012-09-20	2011-07-08	2011-07-08	ENSG00000143418	ENSG00000143418		"""Homeoboxes / CERS class"""	14076	protein-coding gene	gene with protein product		606920	"""longevity assurance (LAG1, S. cerevisiae) homolog 2"", ""LAG1 longevity assurance homolog 2 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 2"""	LASS2		11543633	Standard	NM_181746		Approved	SP260, FLJ10243	uc001evz.3	Q96G23	OTTHUMG00000035064	ENST00000271688.6:c.957G>C	1.37:g.150938997C>G	ENSP00000271688:p.Trp319Cys					CERS2_ENST00000561294.1_Missense_Mutation_p.W310C|CERS2_ENST00000345896.4_5'UTR|CERS2_ENST00000368954.5_Missense_Mutation_p.W319C	p.W319C	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN			10	1343	-			319			TLC.		D3DV06|Q5SZE5|Q9HD96|Q9NW79	Missense_Mutation	SNP	ENST00000271688.6	37	c.957G>C	CCDS973.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.692649	0.68271	.	.	ENSG00000143418	ENST00000368954;ENST00000271688;ENST00000345896	D;D;D	0.94138	-3.36;-3.36;-3.36	5.13	5.13	0.70059	TRAM/LAG1/CLN8 homology domain (3);	0.000000	0.85682	D	0.000000	D	0.97892	0.9307	H	0.96430	3.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98866	1.0764	10	0.87932	D	0	-8.5618	18.3788	0.90443	0.0:1.0:0.0:0.0	.	319	Q96G23	CERS2_HUMAN	C	319;319;169	ENSP00000357950:W319C;ENSP00000271688:W319C;ENSP00000337842:W169C	ENSP00000271688:W319C	W	-	3	0	CERS2	149205621	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.317000	0.79018	2.661000	0.90470	0.655000	0.94253	TGG		0.478	CERS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084897.2	NM_022075		15	36	0	0	0	1	0	15	36				
WFS1	7466	broad.mit.edu	37	4	6302728	6302728	+	Silent	SNP	G	G	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:6302728G>C	ENST00000226760.1	+	8	1376	c.1206G>C	c.(1204-1206)ctG>ctC	p.L402L	WFS1_ENST00000503569.1_Silent_p.L402L	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	402					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GGAACCACCTGGAGCCCTATG	0.607																																						ENST00000226760.1																			0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21						c.(1204-1206)ctG>ctC		Wolfram syndrome 1 (wolframin)							199.0	198.0	199.0					4																	6302728		2203	4300	6503	SO:0001819	synonymous_variant	7466				endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding	g.chr4:6302728G>C	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.1206G>C	4.37:g.6302728G>C						WFS1_ENST00000503569.1_Silent_p.L402L	p.L402L	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN		Colorectal(103;0.0512)	8	1376	+			402					B2R797|D3DVT1|Q8N6I3|Q9UNW6	Silent	SNP	ENST00000226760.1	37	c.1206G>C	CCDS3386.1																																																																																				0.607	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			34	104	0	0	0	1	0	34	104				
MTMR7	9108	broad.mit.edu	37	8	17206577	17206577	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr8:17206577T>C	ENST00000180173.5	-	5	516	c.482A>G	c.(481-483)tAt>tGt	p.Y161C	MTMR7_ENST00000521857.1_Missense_Mutation_p.Y161C|MTMR7_ENST00000523571.1_5'UTR	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	161	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				inositol phosphate dephosphorylation (GO:0046855)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		TTCAGTAGGATAAGAGTCACA	0.473																																						ENST00000180173.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(481-483)tAt>tGt		myotubularin related protein 7							107.0	104.0	105.0					8																	17206577		2203	4300	6503	SO:0001583	missense	9108						protein tyrosine phosphatase activity	g.chr8:17206577T>C	AF073482	CCDS34851.1	8p22	2011-06-09			ENSG00000003987	ENSG00000003987		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7454	protein-coding gene	gene with protein product		603562				9736772, 12890864	Standard	NM_004686		Approved		uc003wxm.3	Q9Y216	OTTHUMG00000163771	ENST00000180173.5:c.482A>G	8.37:g.17206577T>C	ENSP00000180173:p.Tyr161Cys					MTMR7_ENST00000521857.1_Missense_Mutation_p.Y161C|MTMR7_ENST00000523571.1_5'UTR	p.Y161C	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN		Colorectal(111;0.112)	5	516	-			161			Myotubularin phosphatase.		A1L4K9|B4DG87|Q68DX4	Missense_Mutation	SNP	ENST00000180173.5	37	c.482A>G	CCDS34851.1	.	.	.	.	.	.	.	.	.	.	T	18.17	3.563505	0.65651	.	.	ENSG00000003987	ENST00000180173;ENST00000521857	D;D	0.96885	-4.16;-4.16	5.24	4.05	0.47172	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.055063	0.85682	D	0.000000	D	0.98855	0.9613	H	0.99261	4.49	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	D	0.98503	1.0615	10	0.87932	D	0	.	11.9674	0.53044	0.1303:0.0:0.0:0.8697	.	161	Q9Y216	MTMR7_HUMAN	C	161	ENSP00000180173:Y161C;ENSP00000429733:Y161C	ENSP00000180173:Y161C	Y	-	2	0	MTMR7	17250948	1.000000	0.71417	0.890000	0.34922	0.965000	0.64279	5.821000	0.69257	1.036000	0.39998	0.533000	0.62120	TAT		0.473	MTMR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375311.1	NM_004686		25	39	0	0	0	1	0	25	39				
ATR	545	broad.mit.edu	37	3	142186867	142186867	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:142186867T>C	ENST00000350721.4	-	39	6717	c.6596A>G	c.(6595-6597)aAt>aGt	p.N2199S	ATR_ENST00000383101.3_Missense_Mutation_p.N2135S|RP11-383G6.3_ENST00000460977.1_RNA	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2199					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						AATAGCTTTATTGAGGATTTC	0.333								Other conserved DNA damage response genes																														ENST00000350721.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(6595-6597)aAt>aGt	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							122.0	131.0	128.0					3																	142186867		2203	4299	6502	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142186867T>C	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.6596A>G	3.37:g.142186867T>C	ENSP00000343741:p.Asn2199Ser					ATR_ENST00000383101.3_Missense_Mutation_p.N2135S|RP11-383G6.3_ENST00000460977.1_RNA	p.N2199S	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			39	6717	-			2199					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.6596A>G	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	T	12.16	1.853320	0.32791	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.04454	3.62;4.0	5.54	3.02	0.34903	.	0.187360	0.56097	D	0.000033	T	0.05364	0.0142	L	0.45581	1.43	0.36044	D	0.84031	B	0.10296	0.003	B	0.10450	0.005	T	0.28364	-1.0046	10	0.14252	T	0.57	-5.3283	12.4025	0.55420	0.0:0.0:0.2662:0.7338	.	2199	Q13535	ATR_HUMAN	S	2199;2135	ENSP00000343741:N2199S;ENSP00000372581:N2135S	ENSP00000343741:N2199S	N	-	2	0	ATR	143669557	1.000000	0.71417	0.991000	0.47740	0.969000	0.65631	3.340000	0.52143	0.414000	0.25790	0.482000	0.46254	AAT		0.333	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		30	85	0	0	0	1	0	30	85				
NPY1R	4886	broad.mit.edu	37	4	164247554	164247554	+	Silent	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:164247554G>T	ENST00000296533.2	-	2	684	c.153C>A	c.(151-153)atC>atA	p.I51I	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	51					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose metabolic process (GO:0006006)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|regulation of blood pressure (GO:0008217)|regulation of multicellular organism growth (GO:0040014)|sensory perception of pain (GO:0019233)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CACCAAGAATGATCACAGCTC	0.413																																						ENST00000296533.2																			0				breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30						c.(151-153)atC>atA		neuropeptide Y receptor Y1							125.0	114.0	118.0					4																	164247554		2203	4300	6503	SO:0001819	synonymous_variant	4886				inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	g.chr4:164247554G>T		CCDS34089.1	4q31.3-q32	2012-08-08				ENSG00000164128		"""GPCR / Class A : Neuropeptide receptors : Y"""	7956	protein-coding gene	gene with protein product		162641		NPYR		8095935	Standard	NM_000909		Approved		uc003iqm.2	P25929		ENST00000296533.2:c.153C>A	4.37:g.164247554G>T						NPY1R_ENST00000509586.1_Intron	p.I51I	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN			2	684	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	51					B2R6H5	Silent	SNP	ENST00000296533.2	37	c.153C>A	CCDS34089.1																																																																																				0.413	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364685.1			25	71	1	0	1.85244e-09	1	2.25798e-09	25	71				
TENM3	55714	broad.mit.edu	37	4	183600970	183600970	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:183600970T>C	ENST00000511685.1	+	8	1601	c.1478T>C	c.(1477-1479)cTg>cCg	p.L493P	TENM3_ENST00000406950.2_Missense_Mutation_p.L493P			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	493					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										ATCTGGCATCTGGCTTTTTAT	0.483																																						ENST00000511685.1																			0											c.(1477-1479)cTg>cCg		teneurin transmembrane protein 3							38.0	42.0	41.0					4																	183600970		1827	4083	5910	SO:0001583	missense	55714							g.chr4:183600970T>C	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.1478T>C	4.37:g.183600970T>C	ENSP00000424226:p.Leu493Pro					TENM3_ENST00000406950.2_Missense_Mutation_p.L493P	p.L493P							8	1601	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.1478T>C	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.555744	0.86231	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	T;T	0.35048	1.33;1.33	5.32	5.32	0.75619	.	.	.	.	.	T	0.41003	0.1140	M	0.79011	2.435	0.80722	D	1	P	0.38922	0.651	B	0.34038	0.174	T	0.51004	-0.8760	9	0.87932	D	0	.	15.4448	0.75220	0.0:0.0:0.0:1.0	.	493	Q9P273	TEN3_HUMAN	P	493	ENSP00000424226:L493P;ENSP00000385276:L493P	ENSP00000385276:L493P	L	+	2	0	ODZ3	183837964	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.868000	0.87116	2.234000	0.73211	0.460000	0.39030	CTG		0.483	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			9	17	0	0	0	1	0	9	17				
ZNF217	7764	broad.mit.edu	37	20	52198454	52198454	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr20:52198454T>A	ENST00000371471.2	-	2	1337	c.912A>T	c.(910-912)aaA>aaT	p.K304N	ZNF217_ENST00000302342.3_Missense_Mutation_p.K304N|ZNF217_ENST00000540425.1_5'Flank			O75362	ZN217_HUMAN	zinc finger protein 217	304					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CAACTTTTCCTTTGGTAGCCA	0.517																																						ENST00000371471.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(910-912)aaA>aaT		zinc finger protein 217							114.0	107.0	109.0					20																	52198454		2203	4300	6503	SO:0001583	missense	7764				negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:52198454T>A	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.912A>T	20.37:g.52198454T>A	ENSP00000360526:p.Lys304Asn					ZNF217_ENST00000302342.3_Missense_Mutation_p.K304N	p.K304N			O75362	ZN217_HUMAN	BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)		2	1337	-	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		304					E1P5Y6|Q14DB8	Missense_Mutation	SNP	ENST00000371471.2	37	c.912A>T	CCDS13443.1	.	.	.	.	.	.	.	.	.	.	T	15.97	2.989952	0.54041	.	.	ENSG00000171940	ENST00000371471;ENST00000302342	T;T	0.14022	2.54;2.54	5.7	-4.21	0.03812	.	0.053571	0.64402	D	0.000001	T	0.28101	0.0693	M	0.77103	2.36	0.42623	D	0.993359	D	0.61080	0.989	P	0.60949	0.881	T	0.02179	-1.1200	10	0.45353	T	0.12	-26.1447	13.024	0.58804	0.0:0.4551:0.0:0.5449	.	304	O75362	ZN217_HUMAN	N	304	ENSP00000360526:K304N;ENSP00000304308:K304N	ENSP00000304308:K304N	K	-	3	2	ZNF217	51631861	0.906000	0.30813	0.566000	0.28421	0.183000	0.23260	-0.054000	0.11826	-1.216000	0.02607	-0.376000	0.06991	AAA		0.517	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526		30	91	0	0	0	1	0	30	91				
HDGFL1	154150	broad.mit.edu	37	6	22570038	22570038	+	Silent	SNP	G	G	T	rs575165027		TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:22570038G>T	ENST00000230012.3	+	1	361	c.234G>T	c.(232-234)ggG>ggT	p.G78G	HDGFL1_ENST00000510882.2_Silent_p.G78G	NM_138574.2	NP_612641.2	Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	78										kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					TCAGCGCGGGGCTGTGGGAAA	0.652																																						ENST00000510882.2																			0				kidney(1)|large_intestine(3)|lung(7)	11						c.(232-234)ggG>ggT		hepatoma derived growth factor-like 1							37.0	35.0	36.0					6																	22570038		2203	4300	6503	SO:0001819	synonymous_variant	154150							g.chr6:22570038G>T	AK056824	CCDS34347.1	6p22.2	2008-02-05	2005-04-07	2005-04-07	ENSG00000112273	ENSG00000112273			21095	protein-coding gene	gene with protein product			"""PWWP domain containing 1"""	PWWP1			Standard	NM_138574		Approved	dJ309H15.1	uc003nds.3	Q5TGJ6	OTTHUMG00000016206	ENST00000230012.3:c.234G>T	6.37:g.22570038G>T						HDGFL1_ENST00000230012.3_Silent_p.G78G	p.G78G			Q5TGJ6	HDGL1_HUMAN			1	244	+	Ovarian(93;0.163)		78					Q96MJ6	Silent	SNP	ENST00000230012.3	37	c.234G>T	CCDS34347.1																																																																																				0.652	HDGFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043500.1	NM_138574		7	14	1	0	2.0095e-06	1	2.22674e-06	7	14				
CCDC138	165055	broad.mit.edu	37	2	109473416	109473416	+	Silent	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:109473416G>T	ENST00000295124.4	+	13	1743	c.1683G>T	c.(1681-1683)acG>acT	p.T561T	CCDC138_ENST00000412964.2_Silent_p.T561T	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	561										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						TCCAGATGACGGTGGAATCTA	0.343																																						ENST00000295124.4																			0				endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(1681-1683)acG>acT		coiled-coil domain containing 138							66.0	70.0	69.0					2																	109473416		2203	4300	6503	SO:0001819	synonymous_variant	165055							g.chr2:109473416G>T	AK057307	CCDS2080.1	2q13	2008-02-05			ENSG00000163006	ENSG00000163006			26531	protein-coding gene	gene with protein product						12477932	Standard	NM_144978		Approved	FLJ32745	uc002ten.1	Q96M89	OTTHUMG00000130980	ENST00000295124.4:c.1683G>T	2.37:g.109473416G>T						CCDC138_ENST00000412964.2_Silent_p.T561T	p.T561T	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN			13	1743	+			561					Q05DF1|Q4ZG07|Q53TE1|Q6ZUY5|Q86VL7	Silent	SNP	ENST00000295124.4	37	c.1683G>T	CCDS2080.1																																																																																				0.343	CCDC138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253593.1	NM_144978		14	56	1	0	4.3838e-07	1	4.99266e-07	14	56				
CLEC4D	338339	broad.mit.edu	37	12	8667867	8667867	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr12:8667867G>T	ENST00000299665.2	+	2	257	c.64G>T	c.(64-66)Gtt>Ttt	p.V22F		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	22					innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					GATACCTTCGGTTATTGCTGT	0.378																																						ENST00000299665.2																			0				large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						c.(64-66)Gtt>Ttt		C-type lectin domain family 4, member D							247.0	207.0	221.0					12																	8667867		2203	4300	6503	SO:0001583	missense	338339				innate immune response	integral to membrane	sugar binding	g.chr12:8667867G>T	AF411850	CCDS8593.1	12p13.31	2005-09-21	2005-02-09	2005-02-11		ENSG00000166527		"""C-type lectin domain containing"""	14554	protein-coding gene	gene with protein product		609964	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 8"""	CLECSF8			Standard	NM_080387		Approved	Mpcl	uc001qun.3	Q8WXI8		ENST00000299665.2:c.64G>T	12.37:g.8667867G>T	ENSP00000299665:p.Val22Phe						p.V22F	NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN			2	257	+	Lung SC(5;0.184)		22					Q8N5J5	Missense_Mutation	SNP	ENST00000299665.2	37	c.64G>T	CCDS8593.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.836387	0.32421	.	.	ENSG00000166527	ENST00000382064;ENST00000299665	T;T	0.05925	3.37;3.65	3.36	0.139	0.14798	.	.	.	.	.	T	0.05731	0.0150	L	0.54323	1.7	0.09310	N	1	P	0.40476	0.718	B	0.32864	0.154	T	0.30238	-0.9985	9	0.62326	D	0.03	.	5.3051	0.15799	0.5278:0.0:0.4722:0.0	.	22	Q8WXI8	CLC4D_HUMAN	F	22	ENSP00000371496:V22F;ENSP00000299665:V22F	ENSP00000299665:V22F	V	+	1	0	CLEC4D	8559134	0.225000	0.23685	0.017000	0.16124	0.004000	0.04260	0.228000	0.17814	0.015000	0.14971	-0.311000	0.09066	GTT		0.378	CLEC4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400565.1	NM_080387		26	92	1	0	2.48779e-11	1	3.17846e-11	26	92				
KLHL32	114792	broad.mit.edu	37	6	97512561	97512561	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:97512561C>A	ENST00000369261.4	+	5	733	c.370C>A	c.(370-372)Ctg>Atg	p.L124M	KLHL32_ENST00000544166.1_5'UTR|KLHL32_ENST00000536676.1_Missense_Mutation_p.L88M|KLHL32_ENST00000539200.1_Intron	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	124										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		TCACCTACAGCTGTTGGAGCT	0.443																																						ENST00000369261.4																			0				breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(370-372)Ctg>Atg		kelch-like family member 32							145.0	109.0	121.0					6																	97512561		2203	4300	6503	SO:0001583	missense	114792							g.chr6:97512561C>A	AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"""Kelch-like"", ""BTB/POZ domain containing"""	21221	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 5"", ""KIAA1900"", ""kelch-like 32 (Drosophila)"""	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.370C>A	6.37:g.97512561C>A	ENSP00000358265:p.Leu124Met					KLHL32_ENST00000539200.1_Intron|KLHL32_ENST00000544166.1_5'UTR|KLHL32_ENST00000536676.1_Missense_Mutation_p.L88M	p.L124M	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0558)	5	733	+		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)	124					B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Missense_Mutation	SNP	ENST00000369261.4	37	c.370C>A	CCDS5038.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377593	0.61735	.	.	ENSG00000186231	ENST00000369255;ENST00000369261;ENST00000536676;ENST00000369254;ENST00000447886	T;T;T;T	0.68765	-0.35;1.83;-0.35;1.36	5.54	2.85	0.33270	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.64402	D	0.000001	T	0.55561	0.1928	N	0.25992	0.78	0.80722	D	1	D;B;D	0.89917	0.995;0.387;1.0	D;B;D	0.80764	0.979;0.376;0.994	T	0.55711	-0.8098	10	0.33940	T	0.23	.	8.734	0.34516	0.0:0.7181:0.0:0.2819	.	88;124;124	B7Z346;Q96NJ5;Q6IQ08	.;KLH32_HUMAN;.	M	50;124;88;124;20	ENSP00000358265:L124M;ENSP00000440382:L88M;ENSP00000358258:L124M;ENSP00000389310:L20M	ENSP00000358258:L124M	L	+	1	2	KLHL32	97619282	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	1.262000	0.32992	0.474000	0.27392	0.650000	0.86243	CTG		0.443	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1	NM_052904		6	27	1	0	0.0215528	1	0.0218434	6	27				
SLC35F3	148641	broad.mit.edu	37	1	234444872	234444872	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:234444872A>T	ENST00000366617.3	+	3	655	c.427A>T	c.(427-429)Aat>Tat	p.N143Y	MIR4671_ENST00000583284.1_RNA|SLC35F3_ENST00000366618.3_Missense_Mutation_p.N212Y			Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	143					thiamine transport (GO:0015888)	integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			TTTTGGAGACAATGGCTTGAC	0.378																																						ENST00000366618.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32						c.(634-636)Aat>Tat		solute carrier family 35, member F3							111.0	103.0	106.0					1																	234444872		2203	4300	6503	SO:0001583	missense	148641				transport	integral to membrane		g.chr1:234444872A>T		CCDS1600.1, CCDS73050.1	1q42.3	2013-05-22			ENSG00000183780	ENSG00000183780		"""Solute carriers"""	23616	protein-coding gene	gene with protein product							Standard	XM_005273070		Approved	FLJ37712	uc001hvy.1	Q8IY50	OTTHUMG00000037929	ENST00000366617.3:c.427A>T	1.37:g.234444872A>T	ENSP00000355576:p.Asn143Tyr					SLC35F3_ENST00000366617.3_Missense_Mutation_p.N143Y	p.N212Y	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00531)		4	779	+	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	143					Q5TDD6|Q8N9C9	Missense_Mutation	SNP	ENST00000366617.3	37	c.634A>T		.	.	.	.	.	.	.	.	.	.	A	22.8	4.343138	0.82022	.	.	ENSG00000183780	ENST00000366618;ENST00000366617	T;T	0.47177	0.85;0.85	5.73	5.73	0.89815	.	0.129527	0.64402	D	0.000001	T	0.43166	0.1235	N	0.08118	0	0.44323	D	0.997209	P;D	0.54964	0.927;0.969	P;P	0.54100	0.69;0.742	T	0.54063	-0.8349	10	0.72032	D	0.01	-11.5154	16.0021	0.80301	1.0:0.0:0.0:0.0	.	143;212	Q8IY50;Q8IY50-2	S35F3_HUMAN;.	Y	212;143	ENSP00000355577:N212Y;ENSP00000355576:N143Y	ENSP00000355576:N143Y	N	+	1	0	SLC35F3	232511495	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.675000	0.74493	2.192000	0.70111	0.533000	0.62120	AAT		0.378	SLC35F3-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000128322.1	NM_173508		21	51	0	0	0	1	0	21	51				
MME	4311	broad.mit.edu	37	3	154866441	154866441	+	Splice_Site	SNP	G	G	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:154866441G>C	ENST00000460393.1	+	16	1720	c.1600G>C	c.(1600-1602)Gag>Cag	p.E534Q	MME_ENST00000462745.1_Splice_Site_p.E534Q|MME_ENST00000360490.2_Splice_Site_p.E534Q|MME_ENST00000492661.1_Splice_Site_p.E534Q|MME_ENST00000493237.1_Splice_Site_p.E534Q	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	534					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	GGACAAAGATGAGTGCGTATA	0.348																																						ENST00000460393.1																			0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.e16+1		membrane metallo-endopeptidase	Candoxatril(DB00616)						70.0	78.0	75.0					3																	154866441		2203	4299	6502	SO:0001630	splice_region_variant	4311				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr3:154866441G>C		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.1601+1G>C	3.37:g.154866441G>C						MME_ENST00000462745.1_Splice_Site_p.E534_splice|MME_ENST00000493237.1_Splice_Site_p.E534_splice|MME_ENST00000492661.1_Splice_Site_p.E534_splice|MME_ENST00000360490.2_Splice_Site_p.E534_splice	p.E534_splice	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		16	1720	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	534					A8K6U6|D3DNJ9|Q3MIX4	Splice_Site	SNP	ENST00000460393.1	37	c.1601_splice	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.394972	0.42512	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000462745;ENST00000493237;ENST00000360490	D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72	5.93	5.93	0.95920	.	0.303218	0.36066	N	0.002818	D	0.83220	0.5207	M	0.77103	2.36	0.43724	D	0.996202	P	0.48089	0.905	B	0.40199	0.322	T	0.81150	-0.1064	10	0.14656	T	0.56	-26.0586	20.3368	0.98748	0.0:0.0:1.0:0.0	.	534	P08473	NEP_HUMAN	Q	534	ENSP00000420389:E534Q;ENSP00000418525:E534Q;ENSP00000419653:E534Q;ENSP00000417079:E534Q;ENSP00000353679:E534Q	ENSP00000353679:E534Q	E	+	1	0	MME	156349135	1.000000	0.71417	0.999000	0.59377	0.390000	0.30446	4.478000	0.60230	2.805000	0.96524	0.655000	0.94253	GAG		0.348	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902	Missense_Mutation	7	48	0	0	0	1	0	7	48				
GRIN2B	2904	broad.mit.edu	37	12	13768124	13768124	+	Silent	SNP	A	A	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr12:13768124A>G	ENST00000609686.1	-	7	1787	c.1578T>C	c.(1576-1578)tcT>tcC	p.S526S		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	526					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGAAGGGCACAGAGAAGTCGA	0.527																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(1576-1578)tcT>tcC		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						175.0	137.0	150.0					12																	13768124		2203	4300	6503	SO:0001819	synonymous_variant	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13768124A>G		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.1578T>C	12.37:g.13768124A>G							p.S526S	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			7	1787	-			526					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	ENST00000609686.1	37	c.1578T>C	CCDS8662.1																																																																																				0.527	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			30	96	0	0	0	1	0	30	96				
ZNF12	7559	broad.mit.edu	37	7	6731759	6731759	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:6731759T>A	ENST00000405858.1	-	5	1355	c.814A>T	c.(814-816)Agt>Tgt	p.S272C	ZNF12_ENST00000404360.1_Missense_Mutation_p.S198C|AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000342651.5_Missense_Mutation_p.S234C|AC073343.2_ENST00000577401.1_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	272					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)		CCACATTCACTGCATTCATAG	0.398																																						ENST00000405858.1																			0				NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16						c.(814-816)Agt>Tgt		zinc finger protein 12							60.0	66.0	64.0					7																	6731759		2192	4297	6489	SO:0001583	missense	7559				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:6731759T>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.814A>T	7.37:g.6731759T>A	ENSP00000385939:p.Ser272Cys					ZNF12_ENST00000404360.1_Missense_Mutation_p.S198C|AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000342651.5_Missense_Mutation_p.S234C	p.S272C	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)	5	1355	-		Ovarian(82;0.0776)	272					A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	Missense_Mutation	SNP	ENST00000405858.1	37	c.814A>T	CCDS47538.1	.	.	.	.	.	.	.	.	.	.	T	16.30	3.084808	0.55861	.	.	ENSG00000164631	ENST00000404360;ENST00000405858;ENST00000342651;ENST00000399476;ENST00000330442	T;T;T	0.19669	2.13;2.13;2.13	4.03	2.96	0.34315	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.118330	0.06864	N	0.799646	T	0.41003	0.1140	M	0.82517	2.595	0.24556	N	0.993998	D;D	0.57571	0.98;0.975	P;P	0.56343	0.796;0.575	T	0.15896	-1.0421	10	0.62326	D	0.03	.	4.2679	0.10771	0.1618:0.0:0.3527:0.4855	.	272;234	P17014;P17014-5	ZNF12_HUMAN;.	C	198;272;234;330;236	ENSP00000384405:S198C;ENSP00000385939:S272C;ENSP00000344745:S234C	ENSP00000331039:S236C	S	-	1	0	ZNF12	6698284	0.000000	0.05858	0.757000	0.31301	0.987000	0.75469	-1.123000	0.03263	0.968000	0.38212	0.460000	0.39030	AGT		0.398	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324373.2	NM_016265		10	50	0	0	0	1	0	10	50				
CDH12	1010	broad.mit.edu	37	5	21752115	21752115	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr5:21752115G>T	ENST00000382254.1	-	15	3202	c.2116C>A	c.(2116-2118)Ccc>Acc	p.P706T	CDH12_ENST00000504376.2_Missense_Mutation_p.P706T|CDH12_ENST00000522262.1_Missense_Mutation_p.P666T|CDH12_ENST00000521384.1_5'UTR|RP11-804N13.1_ENST00000522350.1_RNA	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	706					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TCTTCCATGGGTGGTCTCTGA	0.448										HNSCC(59;0.17)																												ENST00000382254.1																			0				NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(2116-2118)Ccc>Acc		cadherin 12, type 2 (N-cadherin 2)							238.0	207.0	218.0					5																	21752115		2203	4300	6503	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21752115G>T	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.2116C>A	5.37:g.21752115G>T	ENSP00000371689:p.Pro706Thr	HNSCC(59;0.17)				CDH12_ENST00000522262.1_Missense_Mutation_p.P666T|CDH12_ENST00000504376.2_Missense_Mutation_p.P706T|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000521384.1_5'UTR	p.P706T	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN			15	3202	-			706					B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.2116C>A	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	G	10.64	1.406256	0.25378	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.76060	-0.99;-0.99;-0.99	5.12	4.23	0.50019	Cadherin, cytoplasmic domain (1);	0.310817	0.34853	N	0.003624	T	0.81004	0.4733	L	0.45352	1.415	0.39286	D	0.964644	B;D	0.89917	0.05;1.0	B;D	0.87578	0.145;0.998	T	0.80616	-0.1303	10	0.33940	T	0.23	.	15.5232	0.75881	0.0:0.1389:0.8611:0.0	.	666;706	B7Z2U6;P55289	.;CAD12_HUMAN	T	706;706;666	ENSP00000423577:P706T;ENSP00000371689:P706T;ENSP00000428786:P666T	ENSP00000371689:P706T	P	-	1	0	CDH12	21787872	0.961000	0.32948	0.533000	0.28001	0.968000	0.65278	0.794000	0.26958	1.139000	0.42245	0.467000	0.42956	CCC		0.448	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		21	81	1	0	7.07758e-08	1	8.20563e-08	21	81				
CXorf21	80231	broad.mit.edu	37	X	30577959	30577959	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chrX:30577959G>T	ENST00000378962.3	-	3	836	c.514C>A	c.(514-516)Cag>Aag	p.Q172K		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	172										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						TCACTGGGCTGAGTAGAAATG	0.428																																						ENST00000378962.3																			0				kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						c.(514-516)Cag>Aag		chromosome X open reading frame 21							57.0	55.0	56.0					X																	30577959		2202	4300	6502	SO:0001583	missense	80231							g.chrX:30577959G>T	BC020611	CCDS14224.1	Xp21.3	2006-04-12			ENSG00000120280	ENSG00000120280			25667	protein-coding gene	gene with protein product						12477932	Standard	NM_025159		Approved	FLJ11577	uc004dcg.2	Q9HAI6	OTTHUMG00000021325	ENST00000378962.3:c.514C>A	X.37:g.30577959G>T	ENSP00000368245:p.Gln172Lys						p.Q172K	NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN			3	836	-			172						Missense_Mutation	SNP	ENST00000378962.3	37	c.514C>A	CCDS14224.1	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.506065	0.00992	.	.	ENSG00000120280	ENST00000378962	.	.	.	5.27	5.27	0.74061	.	0.544311	0.17761	N	0.162884	T	0.37183	0.0994	L	0.46157	1.445	0.09310	N	1	B	0.22211	0.066	B	0.21151	0.033	T	0.32824	-0.9892	9	0.05436	T	0.98	-0.0881	12.9862	0.58594	0.0:0.0:0.8389:0.1611	.	172	Q9HAI6	CX021_HUMAN	K	172	.	ENSP00000368245:Q172K	Q	-	1	0	CXorf21	30487880	0.982000	0.34865	0.903000	0.35520	0.332000	0.28634	5.314000	0.65804	2.431000	0.82371	0.513000	0.50165	CAG		0.428	CXorf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056164.1	NM_025159		36	20	1	0	2.09667e-21	1	2.98295e-21	36	20				
GBGT1	26301	broad.mit.edu	37	9	136029278	136029278	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr9:136029278T>A	ENST00000372040.3	-	7	1041	c.730A>T	c.(730-732)Agg>Tgg	p.R244W	GBGT1_ENST00000372043.3_Silent_p.A237A|RALGDS_ENST00000542690.1_Intron|GBGT1_ENST00000540636.1_Missense_Mutation_p.R227W|GBGT1_ENST00000472281.1_5'UTR	NM_001282629.1	NP_001269558.1	Q8N5D6	GBGT1_HUMAN	globoside alpha-1,3-N-acetylgalactosaminyltransferase 1	244					glycolipid biosynthetic process (GO:0009247)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	globoside alpha-N-acetylgalactosaminyltransferase activity (GO:0047277)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)		GAAACACGCCTGCGCTCATAG	0.597																																						ENST00000372040.3																			0				breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10						c.(730-732)Agg>Tgg		globoside alpha-1,3-N-acetylgalactosaminyltransferase 1							79.0	80.0	80.0					9																	136029278		2203	4300	6503	SO:0001583	missense	26301							g.chr9:136029278T>A	AY358175	CCDS6960.1, CCDS65175.1, CCDS65176.1	9q34.13-q34.3	2014-07-18			ENSG00000148288	ENSG00000148288		"""Glycosyltransferase family 6 domain containing"""	20460	protein-coding gene	gene with protein product	"""Forssman glycolipid synthetase (FS)"", ""Forssman synthetase"""	606074				10506200, 8855242	Standard	NM_021996		Approved	UDP-GalNAc, A3GALNT, MGC44848, FS		Q8N5D6	OTTHUMG00000020853	ENST00000372040.3:c.730A>T	9.37:g.136029278T>A	ENSP00000361110:p.Arg244Trp					GBGT1_ENST00000540636.1_Missense_Mutation_p.R227W|GBGT1_ENST00000472281.1_5'UTR|RALGDS_ENST00000542690.1_Intron|GBGT1_ENST00000372043.3_Silent_p.A237A	p.R244W						OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)	7	1041	-								A8K633|B2RA95|B7Z8S5|Q45F07|Q5T7U9|Q5T7V1|Q8N2K4|Q9UKI5	Missense_Mutation	SNP	ENST00000372040.3	37	c.730A>T	CCDS6960.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.936376	0.73442	.	.	ENSG00000148288	ENST00000372040;ENST00000540636	T;T	0.02421	4.3;4.3	5.47	1.56	0.23342	.	0.053582	0.64402	D	0.000002	T	0.14570	0.0352	M	0.83774	2.66	0.49299	D	0.999772	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.00673	-1.1616	10	0.87932	D	0	-16.9874	12.65	0.56755	0.0:0.0:0.418:0.582	.	227;244	B7Z8S5;Q8N5D6	.;GBGT1_HUMAN	W	244;227	ENSP00000361110:R244W;ENSP00000437663:R227W	ENSP00000361110:R244W	R	-	1	2	GBGT1	135019099	0.026000	0.19158	0.953000	0.39169	0.875000	0.50365	0.543000	0.23237	0.351000	0.24027	0.459000	0.35465	AGG		0.597	GBGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054815.1	NM_021996		25	40	0	0	0	1	0	25	40				
SULF1	23213	broad.mit.edu	37	8	70512983	70512983	+	Nonsense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr8:70512983G>T	ENST00000260128.4	+	9	1597	c.880G>T	c.(880-882)Gag>Tag	p.E294*	SULF1_ENST00000402687.4_Nonsense_Mutation_p.E294*|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Nonsense_Mutation_p.E294*|SULF1_ENST00000458141.2_Nonsense_Mutation_p.E294*	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	294					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TGATTCTGTGGAGAGGGTAAG	0.443																																						ENST00000260128.4																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(880-882)Gag>Tag		sulfatase 1							152.0	146.0	148.0					8																	70512983		2203	4300	6503	SO:0001587	stop_gained	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70512983G>T	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.880G>T	8.37:g.70512983G>T	ENSP00000260128:p.Glu294*					SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Nonsense_Mutation_p.E294*|SULF1_ENST00000458141.2_Nonsense_Mutation_p.E294*|SULF1_ENST00000402687.4_Nonsense_Mutation_p.E294*	p.E294*	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		9	1597	+	Breast(64;0.0654)		294					Q86YV8|Q8NCA2|Q9UPS5	Nonsense_Mutation	SNP	ENST00000260128.4	37	c.880G>T	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	G	45	12.035151	0.99629	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	.	.	.	5.96	5.96	0.96718	.	0.098325	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.4192	0.99033	0.0:0.0:1.0:0.0	.	.	.	.	X	294	.	ENSP00000260128:E294X	E	+	1	0	SULF1	70675537	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.080000	0.71299	2.831000	0.97527	0.650000	0.86243	GAG		0.443	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		21	139	1	0	8.10497e-08	1	9.37267e-08	21	139				
CEP350	9857	broad.mit.edu	37	1	180034395	180034395	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:180034395G>T	ENST00000367607.3	+	27	5973	c.5555G>T	c.(5554-5556)cGc>cTc	p.R1852L		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1852					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						ATGAGAAGCCGCATGGATGAA	0.358																																						ENST00000367607.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(5554-5556)cGc>cTc		centrosomal protein 350kDa							36.0	38.0	37.0					1																	180034395		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:180034395G>T	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.5555G>T	1.37:g.180034395G>T	ENSP00000356579:p.Arg1852Leu						p.R1852L	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN			27	5973	+			1852					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.5555G>T	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.091838	0.55968	.	.	ENSG00000135837	ENST00000367607	T	0.49720	0.77	5.34	2.47	0.30058	.	0.000000	0.44902	D	0.000411	T	0.31482	0.0798	N	0.24115	0.695	0.40494	D	0.980575	P;P	0.38767	0.589;0.646	B;B	0.40199	0.322;0.253	T	0.04203	-1.0969	9	.	.	.	.	8.3564	0.32333	0.3:0.0:0.7:0.0	.	1852;1852	E7EU22;Q5VT06	.;CE350_HUMAN	L	1852	ENSP00000356579:R1852L	.	R	+	2	0	CEP350	178301018	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.456000	0.53000	0.249000	0.21456	0.557000	0.71058	CGC		0.358	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		8	22	1	0	1.26484e-09	1	1.55859e-09	8	22				
SLITRK5	26050	broad.mit.edu	37	13	88328295	88328295	+	Missense_Mutation	SNP	G	G	T	rs368289029		TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr13:88328295G>T	ENST00000325089.6	+	2	871	c.652G>T	c.(652-654)Gtg>Ttg	p.V218L	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	218					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TCTGCCCTACGTGGGGCTCTT	0.483																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(652-654)Gtg>Ttg		SLIT and NTRK-like family, member 5							68.0	72.0	71.0					13																	88328295		2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88328295G>T	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.652G>T	13.37:g.88328295G>T	ENSP00000366283:p.Val218Leu					SLITRK5_ENST00000400028.3_Intron	p.V218L	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	871	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		218					B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.652G>T	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	G	0.168	-1.074756	0.01903	.	.	ENSG00000165300	ENST00000325089	T	0.56611	0.45	5.79	4.77	0.60923	.	0.446678	0.21699	N	0.070450	T	0.40423	0.1116	L	0.35249	1.045	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.15037	-1.0451	9	.	.	.	-10.1822	12.9949	0.58640	0.091:0.0:0.909:0.0	.	218	O94991	SLIK5_HUMAN	L	218	ENSP00000366283:V218L	.	V	+	1	0	SLITRK5	87126296	0.958000	0.32768	0.999000	0.59377	0.673000	0.39480	1.493000	0.35605	2.749000	0.94314	0.491000	0.48974	GTG		0.483	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			23	35	1	0	1.50039e-11	1	1.93336e-11	23	35				
IVL	3713	broad.mit.edu	37	1	152883955	152883955	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:152883955C>G	ENST00000368764.3	+	2	1746	c.1682C>G	c.(1681-1683)aCa>aGa	p.T561R	IVL_ENST00000392667.2_Missense_Mutation_p.T415R			P07476	INVO_HUMAN	involucrin	561					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCCCTGCCCACAAAGGGAGAA	0.592																																						ENST00000368764.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1681-1683)aCa>aGa		involucrin							66.0	67.0	67.0					1																	152883955		2203	4300	6503	SO:0001583	missense	3713				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	g.chr1:152883955C>G	BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.1682C>G	1.37:g.152883955C>G	ENSP00000357753:p.Thr561Arg					IVL_ENST00000392667.2_Missense_Mutation_p.T415R	p.T561R			P07476	INVO_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	1746	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		561					Q5T7P4	Missense_Mutation	SNP	ENST00000368764.3	37	c.1682C>G	CCDS1030.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.550839	0.45383	.	.	ENSG00000163207	ENST00000368764;ENST00000392667	T;T	0.14266	3.03;2.52	4.9	2.72	0.32119	.	.	.	.	.	T	0.01523	0.0049	N	0.08118	0	0.09310	N	1	P	0.46020	0.871	B	0.34180	0.177	T	0.40136	-0.9579	9	0.29301	T	0.29	.	5.9885	0.19448	0.0:0.4424:0.0:0.5576	.	561	P07476	INVO_HUMAN	R	561;415	ENSP00000357753:T561R;ENSP00000376435:T415R	ENSP00000357753:T561R	T	+	2	0	IVL	151150579	0.000000	0.05858	0.000000	0.03702	0.324000	0.28378	-0.374000	0.07484	0.484000	0.27630	0.563000	0.77884	ACA		0.592	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034664.1	NM_005547		14	44	0	0	0	1	0	14	44				
RGS7	6000	broad.mit.edu	37	1	240976951	240976951	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:240976951G>T	ENST00000407727.1	-	12	922	c.923C>A	c.(922-924)tCc>tAc	p.S308Y	RGS7_ENST00000331110.7_Missense_Mutation_p.S282Y|RGS7_ENST00000348120.2_Missense_Mutation_p.S255Y|RGS7_ENST00000366562.4_Missense_Mutation_p.S308Y|RGS7_ENST00000401882.1_Missense_Mutation_p.S255Y|RGS7_ENST00000366565.1_Missense_Mutation_p.S308Y|RGS7_ENST00000366563.1_Missense_Mutation_p.S308Y|RGS7_ENST00000446183.2_Missense_Mutation_p.S224Y|RGS7_ENST00000366564.1_Missense_Mutation_p.S308Y			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	308	G protein gamma.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GGTGTCATCGGACAGCCATGG	0.443																																						ENST00000366565.1																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(922-924)tCc>tAc		regulator of G-protein signaling 7							112.0	103.0	106.0					1																	240976951		2203	4300	6503	SO:0001583	missense	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:240976951G>T	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.923C>A	1.37:g.240976951G>T	ENSP00000384428:p.Ser308Tyr					RGS7_ENST00000348120.2_Missense_Mutation_p.S255Y|RGS7_ENST00000401882.1_Missense_Mutation_p.S255Y|RGS7_ENST00000366562.4_Missense_Mutation_p.S308Y|RGS7_ENST00000366564.1_Missense_Mutation_p.S308Y|RGS7_ENST00000407727.1_Missense_Mutation_p.S308Y|RGS7_ENST00000446183.2_Missense_Mutation_p.S224Y|RGS7_ENST00000366563.1_Missense_Mutation_p.S308Y|RGS7_ENST00000331110.7_Missense_Mutation_p.S282Y	p.S308Y	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		13	1304	-		all_cancers(173;0.0131)	308			G protein gamma.		Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	ENST00000407727.1	37	c.923C>A		.	.	.	.	.	.	.	.	.	.	G	22.6	4.307041	0.81247	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000440928;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42	5.5	5.5	0.81552	G-protein gamma domain (3);	0.000000	0.85682	D	0.000000	T	0.59432	0.2193	M	0.84585	2.705	0.48830	D	0.999716	D;D;D;D;D;D;D	0.89917	1.0;0.998;0.999;0.999;0.999;0.999;0.999	D;D;D;D;D;D;D	0.79108	0.992;0.987;0.987;0.978;0.978;0.967;0.992	T	0.65278	-0.6207	10	0.87932	D	0	-20.5648	14.04	0.64669	0.0:0.1509:0.8491:0.0	.	224;282;255;308;308;308;308	B7Z223;B7Z257;P49802-4;P49802-2;P49802-5;P49802-3;P49802	.;.;.;.;.;.;RGS7_HUMAN	Y	282;308;308;308;139;255;224;308;308;255	ENSP00000331485:S282Y;ENSP00000355523:S308Y;ENSP00000355522:S308Y;ENSP00000355521:S308Y;ENSP00000404399:S139Y;ENSP00000341242:S255Y;ENSP00000390138:S224Y;ENSP00000355520:S308Y;ENSP00000384428:S308Y;ENSP00000385508:S255Y	ENSP00000331485:S282Y	S	-	2	0	RGS7	239043574	1.000000	0.71417	0.952000	0.39060	0.965000	0.64279	7.879000	0.87236	2.559000	0.86315	0.655000	0.94253	TCC		0.443	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		15	24	1	0	7.93312e-07	1	8.92229e-07	15	24				
ADCY8	114	broad.mit.edu	37	8	132051742	132051742	+	Missense_Mutation	SNP	C	C	A	rs377243453		TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr8:132051742C>A	ENST00000286355.5	-	1	2930	c.838G>T	c.(838-840)Gcc>Tcc	p.A280S	ADCY8_ENST00000377928.3_Missense_Mutation_p.A280S	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	280					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)			CTGTAGGTGGCGAAGAGCGTG	0.667										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.(838-840)Gcc>Tcc		adenylate cyclase 8 (brain)							46.0	46.0	46.0					8																	132051742		2203	4299	6502	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.chr8:132051742C>A	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.838G>T	8.37:g.132051742C>A	ENSP00000286355:p.Ala280Ser	HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Missense_Mutation_p.A280S	p.A280S	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		1	2930	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		280						Missense_Mutation	SNP	ENST00000286355.5	37	c.838G>T	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	C	19.85	3.903702	0.72754	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.47528	0.84;0.84	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.58047	0.2095	L	0.31578	0.945	0.53005	D	0.999969	D;P	0.69078	0.997;0.47	D;B	0.74023	0.982;0.047	T	0.55528	-0.8127	10	0.38643	T	0.18	.	18.2863	0.90115	0.0:1.0:0.0:0.0	.	280;280	E7EVL1;P40145	.;ADCY8_HUMAN	S	280	ENSP00000286355:A280S;ENSP00000367161:A280S	ENSP00000286355:A280S	A	-	1	0	ADCY8	132120924	1.000000	0.71417	0.993000	0.49108	0.987000	0.75469	7.463000	0.80869	2.580000	0.87095	0.455000	0.32223	GCC		0.667	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			8	40	1	0	0.0477658	1	0.0483012	8	40				
HERC2P3	283755	broad.mit.edu	37	15	20588500	20588500	+	RNA	SNP	A	A	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr15:20588500A>T	ENST00000428453.1	-	0	4250							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						ACACTTCCCTAGGGAAAACCT	0.493																																						ENST00000428453.1																			0				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35																																														283755							g.chr15:20588500A>T	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20588500A>T														0	4250	-									RNA	SNP	ENST00000428453.1	37																																																																																						0.493	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		15	28	0	0	0	1	0	15	28				
PHLDB2	90102	broad.mit.edu	37	3	111632432	111632432	+	Silent	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:111632432C>T	ENST00000431670.2	+	3	2013	c.1602C>T	c.(1600-1602)acC>acT	p.T534T	PHLDB2_ENST00000477695.1_Silent_p.T534T|PHLDB2_ENST00000495180.1_Silent_p.T120T|PHLDB2_ENST00000481953.1_Silent_p.T534T|PHLDB2_ENST00000393923.3_Silent_p.T561T|PHLDB2_ENST00000412622.1_Silent_p.T534T|PHLDB2_ENST00000393925.3_Silent_p.T534T	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	534						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GCTTCTTTACCCCCAGGAGCA	0.562																																						ENST00000431670.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						c.(1600-1602)acC>acT		pleckstrin homology-like domain, family B, member 2							133.0	138.0	136.0					3																	111632432		2203	4300	6503	SO:0001819	synonymous_variant	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111632432C>T		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.1602C>T	3.37:g.111632432C>T						PHLDB2_ENST00000393925.3_Silent_p.T534T|PHLDB2_ENST00000477695.1_Silent_p.T534T|PHLDB2_ENST00000495180.1_Silent_p.T120T|PHLDB2_ENST00000393923.3_Silent_p.T561T|PHLDB2_ENST00000481953.1_Silent_p.T534T|PHLDB2_ENST00000412622.1_Silent_p.T534T	p.T534T	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN			3	2013	+			534					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Silent	SNP	ENST00000431670.2	37	c.1602C>T	CCDS46886.1																																																																																				0.562	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		37	109	0	0	0	1	0	37	109				
MYBPH	4608	broad.mit.edu	37	1	203140617	203140617	+	Silent	SNP	G	G	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:203140617G>C	ENST00000255416.4	-	5	744	c.687C>G	c.(685-687)tcC>tcG	p.S229S		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	229	Ig-like C2-type 1.				cell adhesion (GO:0007155)|regulation of striated muscle contraction (GO:0006942)	myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		TGAAGAGGATGGAGTCCTGGT	0.652																																					NSCLC(32;174 1025 14462 23899 42933)	ENST00000255416.4																			0				endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20						c.(685-687)tcC>tcG		myosin binding protein H							70.0	67.0	68.0					1																	203140617		2203	4300	6503	SO:0001819	synonymous_variant	4608				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle	g.chr1:203140617G>C	BC044226	CCDS30975.1	1q32.1	2013-02-11	2001-11-28		ENSG00000133055	ENSG00000133055		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7552	protein-coding gene	gene with protein product		160795	"""myosin-binding protein H"""			8486381	Standard	NM_004997		Approved		uc001gzh.1	Q13203	OTTHUMG00000042121	ENST00000255416.4:c.687C>G	1.37:g.203140617G>C							p.S229S	NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)	5	744	-			229			Ig-like C2-type 1.		Q16886|Q86YC5	Silent	SNP	ENST00000255416.4	37	c.687C>G	CCDS30975.1																																																																																				0.652	MYBPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100264.1	NM_004997		6	27	0	0	0	1	0	6	27				
SOX7	83595	broad.mit.edu	37	8	10583720	10583720	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr8:10583720C>T	ENST00000304501.1	-	2	773	c.695G>A	c.(694-696)cGc>cAc	p.R232H	SOX7_ENST00000554914.1_Missense_Mutation_p.R284H|SOX7_ENST00000553390.1_Missense_Mutation_p.R284H	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	232					endoderm formation (GO:0001706)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|regulation of canonical Wnt signaling pathway (GO:0060828)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		GGGGATGCGGCGGGGATGGCC	0.682																																						ENST00000304501.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(694-696)cGc>cAc		SRY (sex determining region Y)-box 7							24.0	30.0	28.0					8																	10583720		2187	4259	6446	SO:0001583	missense	83595				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding	g.chr8:10583720C>T	AJ409320	CCDS5977.1	8p22	2013-01-25			ENSG00000171056	ENSG00000171056		"""SRY (sex determining region Y)-boxes"""	18196	protein-coding gene	gene with protein product		612202				11691915	Standard	NM_031439		Approved		uc003wtf.3	Q9BT81	OTTHUMG00000090585	ENST00000304501.1:c.695G>A	8.37:g.10583720C>T	ENSP00000301921:p.Arg232His					SOX7_ENST00000553390.1_Missense_Mutation_p.R284H|SOX7_ENST00000554914.1_Missense_Mutation_p.R284H	p.R232H	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN		COAD - Colon adenocarcinoma(149;0.0732)	2	773	-			232					B4DKV0|Q53YD0	Missense_Mutation	SNP	ENST00000304501.1	37	c.695G>A	CCDS5977.1	.	.	.	.	.	.	.	.	.	.	C	1.999	-0.429874	0.04701	.	.	ENSG00000171056;ENSG00000171056;ENSG00000258724	ENST00000304501;ENST00000553390;ENST00000554914	D;D;D	0.99422	-4.94;-5.88;-5.88	4.34	0.778	0.18543	.	0.624337	0.16064	N	0.231337	D	0.94072	0.8100	N	0.00707	-1.245	0.26090	N	0.98098	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	D	0.92192	0.5760	10	0.41790	T	0.15	.	7.2426	0.26104	0.0:0.2358:0.0:0.7642	.	284;232	B4DKV0;Q9BT81	.;SOX7_HUMAN	H	232;284;284	ENSP00000301921:R232H;ENSP00000452017:R284H;ENSP00000451145:R284H	ENSP00000346908:R284H	R	-	2	0	SOX7;CTD-2135J3.4	10621130	0.994000	0.37717	0.861000	0.33841	0.282000	0.26991	0.279000	0.18771	0.064000	0.16427	0.448000	0.29417	CGC		0.682	SOX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207131.1			13	13	0	0	0	1	0	13	13				
MED12	9968	broad.mit.edu	37	X	70353025	70353025	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chrX:70353025A>G	ENST00000374080.3	+	33	4612	c.4580A>G	c.(4579-4581)cAg>cGg	p.Q1527R	MED12_ENST00000333646.6_Missense_Mutation_p.Q1527R|MED12_ENST00000374102.1_Missense_Mutation_p.Q1527R			Q93074	MED12_HUMAN	mediator complex subunit 12	1527					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					AAACCAAAGCAGCTTATGCAT	0.463			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"""M, S"""	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(4579-4581)cAg>cGg		mediator complex subunit 12							111.0	100.0	104.0					X																	70353025		1950	4142	6092	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70353025A>G	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.4580A>G	X.37:g.70353025A>G	ENSP00000363193:p.Gln1527Arg					MED12_ENST00000374102.1_Missense_Mutation_p.Q1527R|MED12_ENST00000478889.1_Intron|MED12_ENST00000374080.3_Missense_Mutation_p.Q1527R	p.Q1527R	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			33	4779	+	Renal(35;0.156)		1527					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.4580A>G	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	A	16.50	3.140707	0.56936	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072;ENST00000439750	T;T;T;T;T	0.62941	0.35;-0.01;0.35;-0.01;1.41	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.59609	0.2206	M	0.62723	1.935	0.58432	D	0.999999	B;B;B;B	0.14012	0.001;0.004;0.009;0.003	B;B;B;B	0.16722	0.009;0.007;0.016;0.007	T	0.59005	-0.7535	10	0.42905	T	0.14	-14.1458	13.4824	0.61342	1.0:0.0:0.0:0.0	.	1527;1374;1527;1527	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	R	1527;1527;1527;1527;1495;272	ENSP00000333125:Q1527R;ENSP00000363215:Q1527R;ENSP00000363193:Q1527R;ENSP00000414203:Q1495R;ENSP00000408388:Q272R	ENSP00000333125:Q1527R	Q	+	2	0	MED12	70269750	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.843000	0.92142	1.824000	0.53156	0.388000	0.25769	CAG		0.463	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		23	13	0	0	0	1	0	23	13				
PROX1	5629	broad.mit.edu	37	1	214170722	214170722	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:214170722G>A	ENST00000366958.4	+	2	1452	c.844G>A	c.(844-846)Gag>Aag	p.E282K	PROX1_ENST00000498508.2_Missense_Mutation_p.E282K|PROX1_ENST00000261454.4_Missense_Mutation_p.E282K|PROX1_ENST00000435016.1_Missense_Mutation_p.E282K	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	282					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CATGCGCTCGGAGATCCTGGA	0.517																																						ENST00000366958.4																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47						c.(844-846)Gag>Aag		prospero homeobox 1							63.0	65.0	64.0					1																	214170722		2203	4300	6503	SO:0001583	missense	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214170722G>A	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.844G>A	1.37:g.214170722G>A	ENSP00000355925:p.Glu282Lys					PROX1_ENST00000261454.4_Missense_Mutation_p.E282K|PROX1_ENST00000498508.2_Missense_Mutation_p.E282K|PROX1_ENST00000435016.1_Missense_Mutation_p.E282K	p.E282K	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	2	1452	+			282					A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	c.844G>A	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.629875	0.46944	.	.	ENSG00000117707	ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.74	5.74	0.90152	.	0.147481	0.64402	D	0.000013	T	0.21267	0.0512	N	0.01352	-0.895	0.51767	D	0.999931	P	0.36354	0.549	B	0.35182	0.197	T	0.29941	-0.9995	10	0.38643	T	0.18	-5.628	19.9351	0.97137	0.0:0.0:1.0:0.0	.	282	Q92786	PROX1_HUMAN	K	282	ENSP00000420283:E282K;ENSP00000355925:E282K;ENSP00000400694:E282K;ENSP00000261454:E282K	ENSP00000261454:E282K	E	+	1	0	PROX1	212237345	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.359000	0.97115	2.703000	0.92315	0.655000	0.94253	GAG		0.517	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		8	34	0	0	0	1	0	8	34				
LIN7A	8825	broad.mit.edu	37	12	81283142	81283142	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr12:81283142G>C	ENST00000552864.1	-	2	291	c.89C>G	c.(88-90)gCa>gGa	p.A30G		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	30	L27. {ECO:0000255|PROSITE- ProRule:PRU00365}.				exocytosis (GO:0006887)|inner ear development (GO:0048839)|neurotransmitter secretion (GO:0007269)|protein complex assembly (GO:0006461)|protein transport (GO:0015031)|synaptic vesicle transport (GO:0048489)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	L27 domain binding (GO:0097016)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						AATTGCTCTTGCAACATCTGA	0.343																																						ENST00000552864.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						c.(88-90)gCa>gGa		lin-7 homolog A (C. elegans)							81.0	71.0	75.0					12																	81283142		2203	4298	6501	SO:0001583	missense	8825				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding	g.chr12:81283142G>C	AF028826	CCDS9021.1	12q21.31	2014-09-04			ENSG00000111052	ENSG00000111052			17787	protein-coding gene	gene with protein product	"""mammalian LIN-7 1"""	603380				10341223, 17237226	Standard	NM_004664		Approved	MALS-1, TIP-33, LIN-7A, VELI1	uc001szj.1	O14910	OTTHUMG00000170168	ENST00000552864.1:c.89C>G	12.37:g.81283142G>C	ENSP00000447488:p.Ala30Gly						p.A30G	NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN			2	291	-			30			L27.		A4FTY3|Q147W1|Q6LES3|Q7LDS4	Missense_Mutation	SNP	ENST00000552864.1	37	c.89C>G	CCDS9021.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.612257	0.46631	.	.	ENSG00000111052	ENST00000552864;ENST00000549417	T;T	0.26067	2.26;1.76	5.5	4.6	0.57074	L27, C-terminal (1);L27 (2);	0.117353	0.64402	D	0.000019	T	0.14830	0.0358	N	0.08118	0	0.49299	D	0.999778	B	0.33345	0.409	B	0.32393	0.145	T	0.07424	-1.0773	10	0.29301	T	0.29	-12.7788	16.2584	0.82528	0.0:0.1331:0.8669:0.0	.	30	O14910	LIN7A_HUMAN	G	30;24	ENSP00000447488:A30G;ENSP00000448975:A24G	ENSP00000261203:A30G	A	-	2	0	LIN7A	79807273	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	9.750000	0.98875	1.297000	0.44761	0.460000	0.39030	GCA		0.343	LIN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407760.1			14	17	0	0	0	1	0	14	17				
CYTIP	9595	broad.mit.edu	37	2	158272443	158272443	+	Silent	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:158272443G>T	ENST00000264192.3	-	8	947	c.826C>A	c.(826-828)Cgg>Agg	p.R276R	CYTIP_ENST00000540637.1_Silent_p.R170R	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	276	Ser-rich.				regulation of cell adhesion (GO:0030155)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						CTCGTCTGCCGACTGAAGGCA	0.537																																						ENST00000264192.3																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						c.(826-828)Cgg>Agg		cytohesin 1 interacting protein							93.0	87.0	89.0					2																	158272443		2203	4300	6503	SO:0001819	synonymous_variant	9595				regulation of cell adhesion	cell cortex|early endosome	protein binding	g.chr2:158272443G>T	L06633	CCDS2204.1	2q11.2	2011-09-08	2008-08-14	2008-08-19	ENSG00000115165	ENSG00000115165			9506	protein-coding gene	gene with protein product	"""cytohesin binding protein HE"", ""cytohesin binder and regulator"""	604448	"""pleckstrin homology, Sec7 and coiled-coil domains, binding protein"""	PSCDBP		18926288, 10343115, 11867758, 20530790, 21562043	Standard	NM_004288		Approved	B3-1, HE, CYBR, CASP, CYTHIP	uc002tzj.1	O60759	OTTHUMG00000154551	ENST00000264192.3:c.826C>A	2.37:g.158272443G>T						CYTIP_ENST00000540637.1_Silent_p.R170R	p.R276R	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN			8	947	-			276			Ser-rich.		B4DWH9|Q15630|Q8NE32	Silent	SNP	ENST00000264192.3	37	c.826C>A	CCDS2204.1																																																																																				0.537	CYTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254926.1	NM_004288		20	47	1	0	1.33834e-09	1	1.64019e-09	20	47				
ZNF530	348327	broad.mit.edu	37	19	58117342	58117342	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:58117342G>T	ENST00000332854.6	+	3	669	c.449G>T	c.(448-450)gGg>gTg	p.G150V	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	150					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AAAGTGGATGGGGACCAGGCC	0.473																																						ENST00000332854.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20						c.(448-450)gGg>gTg		zinc finger protein 530							57.0	57.0	57.0					19																	58117342		2203	4300	6503	SO:0001583	missense	348327				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58117342G>T	AK096831	CCDS12955.1	19q13.43	2013-01-08				ENSG00000183647		"""Zinc fingers, C2H2-type"", ""-"""	29297	protein-coding gene	gene with protein product						10819331	Standard	NM_020880		Approved	KIAA1508	uc002qpk.2	Q6P9A1		ENST00000332854.6:c.449G>T	19.37:g.58117342G>T	ENSP00000332861:p.Gly150Val					ZNF530_ENST00000597864.1_Intron	p.G150V	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	669	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)	150					O43340|Q9P220	Missense_Mutation	SNP	ENST00000332854.6	37	c.449G>T	CCDS12955.1	.	.	.	.	.	.	.	.	.	.	G	1.839	-0.468033	0.04476	.	.	ENSG00000183647	ENST00000332854	T	0.01455	4.87	2.01	-0.234	0.13074	.	.	.	.	.	T	0.00637	0.0021	N	0.00754	-1.215	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.46762	-0.9168	9	0.30854	T	0.27	.	2.5347	0.04711	0.0:0.1889:0.3063:0.5048	.	150	Q6P9A1	ZN530_HUMAN	V	150	ENSP00000332861:G150V	ENSP00000332861:G150V	G	+	2	0	ZNF530	62809154	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.376000	0.07465	-0.114000	0.11936	-0.578000	0.04140	GGG		0.473	ZNF530-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466797.1	NM_020880		28	55	1	0	1.77063e-15	1	2.44956e-15	28	55				
GRIN2B	2904	broad.mit.edu	37	12	14018745	14018745	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr12:14018745A>G	ENST00000609686.1	-	2	607	c.398T>C	c.(397-399)aTa>aCa	p.I133T		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	133					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ATCTGCCATTATCATAGAGGA	0.502																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(397-399)aTa>aCa		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						108.0	125.0	119.0					12																	14018745		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:14018745A>G		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.398T>C	12.37:g.14018745A>G	ENSP00000477455:p.Ile133Thr						p.I133T	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			2	607	-			133					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.398T>C	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	A	17.88	3.497442	0.64186	.	.	ENSG00000150086	ENST00000279593	D	0.81996	-1.56	5.57	5.57	0.84162	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.81088	0.4750	L	0.40543	1.245	0.58432	D	0.999994	P	0.49253	0.921	P	0.46339	0.513	T	0.82464	-0.0444	10	0.51188	T	0.08	.	15.7378	0.77859	1.0:0.0:0.0:0.0	.	133	Q13224	NMDE2_HUMAN	T	133	ENSP00000279593:I133T	ENSP00000279593:I133T	I	-	2	0	GRIN2B	13910012	1.000000	0.71417	0.996000	0.52242	0.921000	0.55340	9.334000	0.96470	2.103000	0.63969	0.460000	0.39030	ATA		0.502	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			30	182	0	0	0	1	0	30	182				
PAH	5053	broad.mit.edu	37	12	103245509	103245509	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr12:103245509G>A	ENST00000553106.1	-	8	1340	c.868C>T	c.(868-870)Cat>Tat	p.H290Y	PAH_ENST00000307000.2_Missense_Mutation_p.H285Y	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	290			H -> Y (in PKU). {ECO:0000269|PubMed:22526846}.		catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	AAGGGCACATGTCCCAACAGC	0.468																																						ENST00000553106.1																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27						c.(868-870)Cat>Tat		phenylalanine hydroxylase	Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)						83.0	78.0	80.0					12																	103245509		2203	4300	6503	SO:0001583	missense	5053				catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity	g.chr12:103245509G>A	U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"""phenylalanine 4-monooxygenase"""	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.868C>T	12.37:g.103245509G>A	ENSP00000448059:p.His290Tyr					PAH_ENST00000307000.2_Missense_Mutation_p.H285Y	p.H290Y	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN			8	1340	-			290					Q16717|Q8TC14	Missense_Mutation	SNP	ENST00000553106.1	37	c.868C>T	CCDS9092.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.994067	0.93167	.	.	ENSG00000171759	ENST00000553106;ENST00000307000	D;D	0.99956	-8.91;-8.91	5.51	5.51	0.81932	Aromatic amino acid hydroxylase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99971	0.9990	H	0.99238	4.48	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96976	0.9712	10	0.87932	D	0	-28.1593	19.7791	0.96410	0.0:0.0:1.0:0.0	.	290	P00439	PH4H_HUMAN	Y	290;285	ENSP00000448059:H290Y;ENSP00000303500:H285Y	ENSP00000303500:H285Y	H	-	1	0	PAH	101769639	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.420000	0.97426	2.763000	0.94921	0.650000	0.86243	CAT		0.468	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406692.1			8	19	0	0	0	1	0	8	19				
CHL1	10752	broad.mit.edu	37	3	432410	432410	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr3:432410G>T	ENST00000256509.2	+	21	3139	c.2497G>T	c.(2497-2499)Ggg>Tgg	p.G833W	CHL1_ENST00000397491.2_Missense_Mutation_p.G817W	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	0					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)		AGTGATCCATGGGGTGGACGT	0.363																																						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.(2497-2499)Ggg>Tgg		cell adhesion molecule L1-like							107.0	109.0	108.0					3																	432410		2203	4300	6503	SO:0001583	missense	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:432410G>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.2497G>T	3.37:g.432410G>T	ENSP00000256509:p.Gly833Trp					CHL1_ENST00000397491.2_Missense_Mutation_p.G817W	p.G833W	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)	21	3139	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	817			Fibronectin type-III 3.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	c.2497G>T	CCDS2556.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.68|16.68	3.189152|3.189152	0.57909|0.57909	.|.	.|.	ENSG00000134121|ENSG00000134121	ENST00000256509;ENST00000397491|ENST00000445697	T;T|.	0.53640|.	0.61;0.61|.	5.51|5.51	-1.38|-1.38	0.09027|0.09027	Fibronectin, type III (3);Immunoglobulin-like fold (1);|.	0.574116|.	0.18440|.	N|.	0.141174|.	T|T	0.20251|0.20251	0.0487|0.0487	N|N	0.25890|0.25890	0.77|0.77	0.09310|0.09310	N|N	1|1	D;D;P|.	0.56968|.	0.978;0.978;0.874|.	P;P;P|.	0.59825|.	0.864;0.864;0.649|.	T|T	0.25502|0.25502	-1.0130|-1.0130	10|5	0.72032|.	D|.	0.01|.	.|.	2.0091|2.0091	0.03484|0.03484	0.3217:0.2707:0.3037:0.1039|0.3217:0.2707:0.3037:0.1039	.|.	817;817;833|.	B3KX75;O00533;O00533-2|.	.;CHL1_HUMAN;.|.	W|I	833;817|19	ENSP00000256509:G833W;ENSP00000380628:G817W|.	ENSP00000256509:G833W|.	G|M	+|+	1|3	0|0	CHL1|CHL1	407410|407410	0.000000|0.000000	0.05858|0.05858	0.027000|0.027000	0.17364|0.17364	0.974000|0.974000	0.67602|0.67602	-0.097000|-0.097000	0.11042|0.11042	-0.006000|-0.006000	0.14370|0.14370	0.591000|0.591000	0.81541|0.81541	GGG|ATG		0.363	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		12	37	1	0	2.80697e-09	1	3.41225e-09	12	37				
MS4A14	84689	broad.mit.edu	37	11	60183406	60183406	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr11:60183406C>T	ENST00000300187.6	+	5	1242	c.965C>T	c.(964-966)tCc>tTc	p.S322F	MS4A14_ENST00000531783.1_Missense_Mutation_p.S355F|MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000395005.2_Missense_Mutation_p.S305F|MS4A14_ENST00000531787.1_Missense_Mutation_p.S210F	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	322						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						GACTTGCCATCCCAAGCTCTA	0.453																																						ENST00000300187.6																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						c.(964-966)tCc>tTc		membrane-spanning 4-domains, subfamily A, member 14							100.0	92.0	95.0					11																	60183406		2203	4300	6503	SO:0001583	missense	84689					integral to membrane	receptor activity	g.chr11:60183406C>T	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.965C>T	11.37:g.60183406C>T	ENSP00000300187:p.Ser322Phe					MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000531787.1_Missense_Mutation_p.S210F|MS4A14_ENST00000531783.1_Missense_Mutation_p.S355F|MS4A14_ENST00000395005.2_Missense_Mutation_p.S305F	p.S322F	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN			5	1242	+			322					E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000300187.6	37	c.965C>T	CCDS31569.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.348934	0.41599	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	T;T;T;T	0.37058	1.22;2.46;1.25;2.84	3.84	2.9	0.33743	.	4.976220	0.00357	N	0.000026	T	0.46502	0.1396	L	0.34521	1.04	0.09310	N	0.999994	D;D	0.57571	0.98;0.966	P;P	0.56865	0.808;0.648	T	0.35001	-0.9806	10	0.66056	D	0.02	-3.3154	8.7243	0.34460	0.2263:0.7737:0.0:0.0	.	305;322	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	F	210;322;305;355	ENSP00000437222:S210F;ENSP00000300187:S322F;ENSP00000378453:S305F;ENSP00000433761:S355F	ENSP00000300187:S322F	S	+	2	0	MS4A14	59939982	0.000000	0.05858	0.014000	0.15608	0.036000	0.12997	0.412000	0.21131	1.158000	0.42547	0.650000	0.86243	TCC		0.453	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			12	30	0	0	0	1	0	12	30				
SLC19A3	80704	broad.mit.edu	37	2	228563763	228563763	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:228563763C>A	ENST00000258403.3	-	3	739	c.668G>T	c.(667-669)gGt>gTt	p.G223V	SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Missense_Mutation_p.G219V	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	223					small molecule metabolic process (GO:0044281)|thiamine transmembrane transport (GO:0071934)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thiamine uptake transmembrane transporter activity (GO:0015403)			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	TGGTGCTTCACCTTCGTGAGT	0.448																																						ENST00000258403.3																			0				breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30						c.(667-669)gGt>gTt		solute carrier family 19 (thiamine transporter), member 3	L-Cysteine(DB00151)						133.0	118.0	123.0					2																	228563763		2203	4300	6503	SO:0001583	missense	80704				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	g.chr2:228563763C>A	AF271633	CCDS2468.1	2q37	2013-07-18	2013-07-18		ENSG00000135917	ENSG00000135917		"""Solute carriers"""	16266	protein-coding gene	gene with protein product	"""thiamine transporter 2"""	606152	"""solute carrier family 19, member 3"""			11136550, 15871139	Standard	XM_005246871		Approved	THTR2	uc002vpi.3	Q9BZV2	OTTHUMG00000133185	ENST00000258403.3:c.668G>T	2.37:g.228563763C>A	ENSP00000258403:p.Gly223Val					SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Missense_Mutation_p.G219V	p.G223V	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	3	739	-		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)	223						Missense_Mutation	SNP	ENST00000258403.3	37	c.668G>T	CCDS2468.1	.	.	.	.	.	.	.	.	.	.	C	8.597	0.886009	0.17540	.	.	ENSG00000135917	ENST00000258403;ENST00000541617	D;D	0.86694	-2.13;-2.16	5.4	-5.48	0.02592	Major facilitator superfamily domain, general substrate transporter (1);	6.211560	0.00166	N	0.000009	T	0.80369	0.4610	L	0.56340	1.77	0.19300	N	0.999979	B;B	0.15141	0.012;0.003	B;B	0.13407	0.009;0.008	T	0.59343	-0.7472	10	0.29301	T	0.29	3.7175	1.8581	0.03183	0.1243:0.1946:0.3631:0.318	.	219;223	F5H2M8;Q9BZV2	.;S19A3_HUMAN	V	223;219	ENSP00000258403:G223V;ENSP00000445519:G219V	ENSP00000258403:G223V	G	-	2	0	SLC19A3	228272007	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.590000	0.05760	-1.081000	0.03105	0.655000	0.94253	GGT		0.448	SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256894.1			13	43	1	0	7.03913e-09	1	8.44321e-09	13	43				
ZNF702P	79986	broad.mit.edu	37	19	53473212	53473212	+	RNA	SNP	A	A	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr19:53473212A>C	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							GTTTCTCTCCAGTATGAATTC	0.383																																						ENST00000600068.1																			0																				60.0	53.0	55.0					19																	53473212		692	1591	2283			79986							g.chr19:53473212A>C																													19.37:g.53473212A>C						ZNF702P_ENST00000270443.4_RNA								0	489	-									RNA	SNP	ENST00000600068.1	37																																																																																						0.383	CTD-2620I22.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000463881.1			18	54	0	0	0	1	0	18	54				
CCL20	6364	broad.mit.edu	37	2	228681044	228681044	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:228681044G>T	ENST00000358813.4	+	3	271	c.213G>T	c.(211-213)ttG>ttT	p.L71F	CCL20_ENST00000409189.3_Missense_Mutation_p.L70F|CCL20_ENST00000473642.1_3'UTR			P78556	CCL20_HUMAN	chemokine (C-C motif) ligand 20	71					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemokinesis (GO:0042466)|chemotaxis (GO:0006935)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of T cell migration (GO:2000406)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			cervix(1)|lung(2)	3		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;7.3e-11)|all cancers(144;4.13e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		AGAAAAAGTTGTCTGTGTGCG	0.338																																						ENST00000409189.3																			0				cervix(1)|lung(2)	3						c.(208-210)ttG>ttT		chemokine (C-C motif) ligand 20							88.0	86.0	87.0					2																	228681044		2203	4300	6503	SO:0001583	missense	6364				cell-cell signaling|chemotaxis|defense response to bacterium|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity	g.chr2:228681044G>T	D86955	CCDS2469.1, CCDS46536.1	2q36.3	2013-02-25	2002-08-22	2002-08-23	ENSG00000115009	ENSG00000115009		"""Chemokine ligands"", ""Endogenous ligands"""	10619	protein-coding gene	gene with protein product		601960	"""small inducible cytokine subfamily A (Cys-Cys), member 20"""	SCYA20		9038201, 11352563	Standard	NM_004591		Approved	LARC, MIP-3a, exodus-1, ST38, CKb4	uc002vpl.2	P78556	OTTHUMG00000133189	ENST00000358813.4:c.213G>T	2.37:g.228681044G>T	ENSP00000351671:p.Leu71Phe					CCL20_ENST00000358813.4_Missense_Mutation_p.L71F|CCL20_ENST00000473642.1_3'UTR	p.L70F	NM_001130046.1|NM_004591.2	NP_001123518.1|NP_004582.1	P78556	CCL20_HUMAN		Epithelial(121;7.3e-11)|all cancers(144;4.13e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)	3	280	+		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	71					Q53S51|Q99664	Missense_Mutation	SNP	ENST00000358813.4	37	c.210G>T	CCDS2469.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.904498	0.33628	.	.	ENSG00000115009	ENST00000409189;ENST00000358813	T;T	0.04809	3.55;3.55	5.19	-10.4	0.00318	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	2.988990	0.00843	N	0.001776	T	0.01730	0.0055	.	.	.	0.09310	N	1	B;B	0.25272	0.1;0.122	B;B	0.22753	0.041;0.039	T	0.42120	-0.9470	9	0.10111	T	0.7	6.6666	3.8263	0.08855	0.1709:0.3859:0.3375:0.1058	.	70;71	P78556-2;P78556	.;CCL20_HUMAN	F	70;71	ENSP00000386273:L70F;ENSP00000351671:L71F	ENSP00000351671:L71F	L	+	3	2	CCL20	228389288	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.831000	0.00743	-1.411000	0.02032	-0.351000	0.07748	TTG		0.338	CCL20-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331641.1	NM_004591		15	37	1	0	1.37285e-15	1	1.9051e-15	15	37				
PGM1	5236	broad.mit.edu	37	1	64100692	64100693	+	Splice_Site	INS	-	-	G			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:64100692_64100693insG	ENST00000371084.3	+	5	1086		c.e5+2		PGM1_ENST00000371083.4_Splice_Site|PGM1_ENST00000540265.1_Splice_Site	NM_002633.2	NP_002624.2	P36871	PGM1_HUMAN	phosphoglucomutase 1						carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						GGAGATGGGGTGGGTATAAGTG	0.545																																						ENST00000371083.4																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.e5+2		phosphoglucomutase 1																																				SO:0001630	splice_region_variant	5236				cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity	g.chr1:64100692_64100693insG	BC019920	CCDS625.1, CCDS53323.1, CCDS53324.1	1p22.1	2012-10-02			ENSG00000079739	ENSG00000079739	5.4.2.2		8905	protein-coding gene	gene with protein product		171900				4517931, 1530890	Standard	NM_002633		Approved		uc010ooz.2	P36871	OTTHUMG00000008968	ENST00000371084.3:c.873+2->G	1.37:g.64100695_64100695dupG						PGM1_ENST00000540265.1_Splice_Site|PGM1_ENST00000371084.3_Splice_Site		NM_001172818.1	NP_001166289.1	P36871	PGM1_HUMAN			5	1295	+								B2R5N9|B4DPV0|Q16105|Q16106|Q5BKZ9|Q6NW22|Q86U74|Q96J40|Q9NTY4	Splice_Site	INS	ENST00000371084.3	37		CCDS625.1																																																																																				0.545	PGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024868.1	NM_002633	Intron	31	94						31	94	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152276467	152276468	+	In_Frame_Ins	INS	-	-	GGA			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr1:152276467_152276468insGGA	ENST00000368799.1	-	3	10929_10930	c.10894_10895insTCC	c.(10894-10896)cag>cTCCag	p.3631_3632insL	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3631	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCTGCTGACTGCTGGTGGTGG	0.554									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(10894-10896)gtc>TCCgtc		filaggrin																																				SO:0001652	inframe_insertion	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152276467_152276468insGGA	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10894_10895insTCC	1.37:g.152276467_152276468insGGA	ENSP00000357789:p.Gln3631_Gln3632insLeu					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.3631_3632insS	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	10929_10930	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3631			Ser-rich.		Q01720|Q5T583|Q9UC71	In_Frame_Ins	INS	ENST00000368799.1	37	c.10894_10895insTCC	CCDS30860.1																																																																																				0.554	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		7	795						7	795	---	---	---	---
SLC4A10	57282	broad.mit.edu	37	2	162425193	162425193	+	IGR	DEL	C	C	-			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:162425193delC								snoU13 (10037 upstream) : SLC4A10 (55651 downstream)																							GGGTTTCAAACTTCTTATATC	0.418																																						ENST00000605990.1																			0																																																	SO:0001628	intergenic_variant	57282							g.chr2:162425193delC																													2.37:g.162425193delC														0	344	+									RNA	DEL		37																																																																																					0	0.418									6	10						6	10	---	---	---	---
MAP2	4133	broad.mit.edu	37	2	210559334	210559334	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr2:210559334delG	ENST00000360351.4	+	7	2946	c.2440delG	c.(2440-2442)ggcfs	p.G814fs	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Frame_Shift_Del_p.G810fs|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	814					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.G814S(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	AGATCTGGCAGGCACAAGGTC	0.473																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4																			1	Substitution - Missense(1)	p.G814S(1)	haematopoietic_and_lymphoid_tissue(1)	breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124						c.(2440-2442)gcfs		microtubule-associated protein 2	Estramustine(DB01196)						131.0	131.0	131.0					2																	210559334		2203	4300	6503	SO:0001589	frameshift_variant	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210559334delG		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.2440delG	2.37:g.210559334delG	ENSP00000353508:p.Gly814fs					MAP2_ENST00000447185.1_Frame_Shift_Del_p.G810fs|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron	p.G814fs	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	2946	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	814					Q17S04|Q8IUX2|Q99975|Q99976	Frame_Shift_Del	DEL	ENST00000360351.4	37	c.2440delG	CCDS2384.1																																																																																				0.473	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		34	104						34	104	---	---	---	---
TACC3	10460	broad.mit.edu	37	4	1730308	1730308	+	Frame_Shift_Del	DEL	C	C	-	rs201356524		TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:1730308delC	ENST00000313288.4	+	4	1285	c.1179delC	c.(1177-1179)gacfs	p.D393fs		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	393					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.M396fs*17(1)		central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			CAGGAGAGGACCCCCCCATGC	0.612																																					Ovarian(120;482 2294 11894 35824)	ENST00000313288.4																			1	Insertion - Frameshift(1)	p.M396fs*17(1)	ovary(1)	central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(1177-1179)gafs		transforming, acidic coiled-coil containing protein 3							70.0	84.0	80.0					4																	1730308		2203	4300	6503	SO:0001589	frameshift_variant	10460					centrosome		g.chr4:1730308delC	AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.1179delC	4.37:g.1730308delC	ENSP00000326550:p.Asp393fs						p.D393fs	NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)		4	1285	+		Breast(71;0.212)|all_epithelial(65;0.241)	393					Q2NKK4|Q3KQS5|Q9UMQ1	Frame_Shift_Del	DEL	ENST00000313288.4	37	c.1179delC	CCDS3352.1																																																																																				0.612	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203730.2			12	42						12	42	---	---	---	---
FSTL5	56884	broad.mit.edu	37	4	162376271	162376271	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr4:162376271delG	ENST00000306100.5	-	15	2162	c.1726delC	c.(1726-1728)ctgfs	p.L576fs	FSTL5_ENST00000379164.4_Frame_Shift_Del_p.L575fs|FSTL5_ENST00000427802.2_Frame_Shift_Del_p.L566fs|FSTL5_ENST00000536695.1_Frame_Shift_Del_p.L575fs	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	576						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CCACTGGCCAGGGTAATTACC	0.403																																						ENST00000306100.5																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.(1726-1728)tgfs		follistatin-like 5							127.0	100.0	109.0					4																	162376271		2203	4300	6503	SO:0001589	frameshift_variant	56884					extracellular region	calcium ion binding	g.chr4:162376271delG	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.1726delC	4.37:g.162376271delG	ENSP00000305334:p.Leu576fs					FSTL5_ENST00000379164.4_Frame_Shift_Del_p.L575fs|FSTL5_ENST00000536695.1_Frame_Shift_Del_p.L575fs|FSTL5_ENST00000427802.2_Frame_Shift_Del_p.L566fs	p.L576fs	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	15	2162	-	all_hematologic(180;0.24)		576					E9PCP6|Q9NSW7|Q9ULF7	Frame_Shift_Del	DEL	ENST00000306100.5	37	c.1726delC	CCDS3802.1																																																																																				0.403	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		10	30						10	30	---	---	---	---
NSD1	64324	broad.mit.edu	37	5	176638682	176638682	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr5:176638682delG	ENST00000439151.2	+	5	3327	c.3282delG	c.(3280-3282)atgfs	p.M1094fs	NSD1_ENST00000354179.4_Frame_Shift_Del_p.M825fs|NSD1_ENST00000361032.4_Frame_Shift_Del_p.M991fs|NSD1_ENST00000347982.4_Frame_Shift_Del_p.M825fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1094					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)|Epithelial(233;0.198)	Kidney(146;0.235)		TTCAGATAATGGGCCACTTAA	0.448			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(3280-3282)atfs		nuclear receptor binding SET domain protein 1							108.0	120.0	116.0					5																	176638682		2203	4300	6503	SO:0001589	frameshift_variant	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176638682delG	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.3282delG	5.37:g.176638682delG	ENSP00000395929:p.Met1094fs	HNSCC(47;0.14)				NSD1_ENST00000347982.4_Frame_Shift_Del_p.M825fs|NSD1_ENST00000354179.4_Frame_Shift_Del_p.M825fs|NSD1_ENST00000361032.4_Frame_Shift_Del_p.M991fs	p.M1094fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	5	3327	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1094					Q96PD8|Q96RN7	Frame_Shift_Del	DEL	ENST00000439151.2	37	c.3282delG	CCDS4412.1																																																																																				0.448	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		33	35						33	35	---	---	---	---
ZNF292	23036	broad.mit.edu	37	6	87928336	87928336	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr6:87928336delA	ENST00000369577.3	+	4	468	c.425delA	c.(424-426)gagfs	p.E142fs	ZNF292_ENST00000369578.2_3'UTR|ZNF292_ENST00000339907.4_Frame_Shift_Del_p.E142fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	142						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AAGCTGATGGAGAATGGCAGC	0.368																																						ENST00000369577.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(424-426)ggfs		zinc finger protein 292							31.0	29.0	30.0					6																	87928336		1812	4074	5886	SO:0001589	frameshift_variant	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87928336delA	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.425delA	6.37:g.87928336delA	ENSP00000358590:p.Glu142fs					ZNF292_ENST00000369578.2_3'UTR|ZNF292_ENST00000339907.4_Frame_Shift_Del_p.E142fs	p.E142fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	4	468	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	142					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Frame_Shift_Del	DEL	ENST00000369577.3	37	c.425delA	CCDS47457.1																																																																																				0.368	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		2	4						2	4	---	---	---	---
CCT6P1	643253	broad.mit.edu	37	7	65226819	65226819	+	RNA	DEL	A	A	-	rs530400395	byFrequency	TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:65226819delA	ENST00000442266.1	+	0	1167				SNORA15_ENST00000384058.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		AATGGGGACCAAAAAAAAAAT	0.353													|||unknown(NO_COVERAGE)	16	0.00319489	0.0068	0.0	5008	,	,		14661	0.005		0.0	False		,,,				2504	0.002					ENST00000442266.1																			0																																																			643253							g.chr7:65226819delA	BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65226819delA														0	1167	+									RNA	DEL	ENST00000442266.1	37																																																																																						0.353	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345507.1	NR_003110		3	5						3	5	---	---	---	---
SRRT	51593	broad.mit.edu	37	7	100484691	100484691	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:100484691delC	ENST00000347433.4	+	15	2003	c.1845delC	c.(1843-1845)tacfs	p.Y615fs	SRRT_ENST00000432932.1_Frame_Shift_Del_p.Y614fs|SRRT_ENST00000457580.2_Frame_Shift_Del_p.Y615fs|SRRT_ENST00000388793.4_Frame_Shift_Del_p.Y614fs			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	615					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.Y615Y(1)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TCCTCCTTTACCTGCGCATCG	0.602																																						ENST00000388793.4																			1	Substitution - coding silent(1)	p.Y615Y(1)	large_intestine(1)	breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(1840-1842)tafs		serrate RNA effector molecule homolog (Arabidopsis)							167.0	159.0	162.0					7																	100484691		2203	4300	6503	SO:0001589	frameshift_variant	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100484691delC		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.1845delC	7.37:g.100484691delC	ENSP00000314491:p.Tyr615fs					SRRT_ENST00000457580.2_Frame_Shift_Del_p.Y615fs|SRRT_ENST00000347433.4_Frame_Shift_Del_p.Y615fs|SRRT_ENST00000432932.1_Frame_Shift_Del_p.Y614fs	p.Y614fs	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN			15	2062	+			615					A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Frame_Shift_Del	DEL	ENST00000347433.4	37	c.1842delC	CCDS34709.1																																																																																				0.602	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		33	114						33	114	---	---	---	---
LHFPL3	375612	broad.mit.edu	37	7	104377250	104377251	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr7:104377250_104377251insT	ENST00000401970.2	+	2	654_655	c.532_533insT	c.(532-534)ctgfs	p.L178fs	LHFPL3-AS1_ENST00000449764.1_RNA|LHFPL3-AS1_ENST00000433514.1_RNA|LHFPL3_ENST00000535008.1_Frame_Shift_Ins_p.L192fs|LHFPL3_ENST00000543266.1_Frame_Shift_Ins_p.L192fs|LHFPL3_ENST00000424859.1_Frame_Shift_Ins_p.L178fs			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	192						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(6)	9						GGCATACATCCTGGCTATTATT	0.47																																						ENST00000535008.1																			0				kidney(1)|large_intestine(2)|lung(6)	9						c.(574-576)ggcfs		lipoma HMGIC fusion partner-like 3																																				SO:0001589	frameshift_variant	375612					integral to membrane		g.chr7:104377250_104377251insT	AY260763		7q22.2	2006-06-13			ENSG00000187416	ENSG00000187416			6589	protein-coding gene	gene with protein product		609719	"""lipoma HMGIC fusion partner-like 4"""	LHFPL4		10329012	Standard	NM_199000		Approved		uc003vce.3	Q86UP9	OTTHUMG00000157273	ENST00000401970.2:c.533dupT	7.37:g.104377251_104377251dupT	ENSP00000385374:p.Leu178fs					LHFPL3_ENST00000424859.1_Frame_Shift_Ins_p.G178fs|LHFPL3_ENST00000543266.1_Frame_Shift_Ins_p.G192fs|LHFPL3_ENST00000401970.2_Frame_Shift_Ins_p.G178fs	p.G192fs			Q86UP9	LHPL3_HUMAN			4	698_699	+			178					A1L383|A4D0Q5	Frame_Shift_Ins	INS	ENST00000401970.2	37	c.574_575insT																																																																																					0.470	LHFPL3-002	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000348284.1	NM_199000		11	21						11	21	---	---	---	---
IGSF22	283284	broad.mit.edu	37	11	18741425	18741425	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr11:18741425delG	ENST00000513874.1	-	7	673	c.534delC	c.(532-534)cccfs	p.P178fs	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	178	Lys-rich.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						GCTTCTTCTTGGGAGCAGGGG	0.488																																						ENST00000513874.1																			0				NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						c.(532-534)ccfs		immunoglobulin superfamily, member 22							143.0	139.0	140.0					11																	18741425		1878	4112	5990	SO:0001589	frameshift_variant	283284							g.chr11:18741425delG	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.534delC	11.37:g.18741425delG	ENSP00000421191:p.Pro178fs					RP11-1081L13.4_ENST00000527285.1_RNA	p.P178fs	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN			7	673	-			178			Lys-rich.		A6NNA0|D6RGV7	Frame_Shift_Del	DEL	ENST00000513874.1	37	c.534delC	CCDS41625.2																																																																																				0.488	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		44	58						44	58	---	---	---	---
MAML2	84441	broad.mit.edu	37	11	95713064	95713065	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr11:95713064_95713065delGT	ENST00000524717.1	-	5	3802_3803	c.2518_2519delAC	c.(2518-2520)accfs	p.T840fs		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	840					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				AGTTAAAATGGTGTGTGTTGAA	0.421			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																	ENST00000524717.1				Dom	yes		11	11q22-q23	84441	T	mastermind-like 2 (Drosophila)			E	"""MECT1, CRTC3"""		salivary gland mucoepidermoid	CRTC3/MAML2(26)|CRTC1/MAML2(516)	0				breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43						c.(2518-2520)cfs		mastermind-like 2 (Drosophila)																																				SO:0001589	frameshift_variant	84441				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr11:95713064_95713065delGT	AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.2518_2519delAC	11.37:g.95713070_95713071delGT	ENSP00000434552:p.Thr840fs						p.T840fs	NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN			5	3802_3803	-		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)	840					A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Frame_Shift_Del	DEL	ENST00000524717.1	37	c.2518_2519delAC	CCDS44714.1																																																																																				0.421	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			17	19						17	19	---	---	---	---
ACSM3	6296	broad.mit.edu	37	16	20793102	20793103	+	Frame_Shift_Ins	INS	-	-	C			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr16:20793102_20793103insC	ENST00000289416.5	+	7	1487_1488	c.1012_1013insC	c.(1012-1014)atafs	p.I338fs	ACSM3_ENST00000450120.2_Frame_Shift_Ins_p.I330fs|RNU6-944P_ENST00000364023.1_RNA|ACSM3_ENST00000440284.2_Frame_Shift_Ins_p.I338fs|ERI2_ENST00000300005.3_Intron	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	338					cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						ACAGAATGATATAACCAGGTAA	0.406																																						ENST00000289416.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						c.(1012-1014)aacfs		acyl-CoA synthetase medium-chain family member 3																																				SO:0001589	frameshift_variant	6296				regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20793102_20793103insC	D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187		"""Acyl-CoA synthetase family"""	10522	protein-coding gene	gene with protein product		145505	"""SA (rat hypertension-associated) homolog"", ""SA hypertension-associated homolog (rat)"""	SAH		7843754, 7907320, 11470804	Standard	NM_005622		Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	Exception_encountered	16.37:g.20793102_20793103insC	ENSP00000289416:p.Ile338fs					ERI2_ENST00000300005.3_Intron|ACSM3_ENST00000440284.2_Frame_Shift_Ins_p.N338fs|ACSM3_ENST00000450120.2_Frame_Shift_Ins_p.N330fs	p.N338fs	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN			7	1487_1488	+			338					O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Frame_Shift_Ins	INS	ENST00000289416.5	37	c.1012_1013insC	CCDS10589.1																																																																																				0.406	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254414.2	NM_005622		14	46						14	46	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579514	7579514	+	Frame_Shift_Del	DEL	G	G	-	rs144386518		TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr17:7579514delG	ENST00000269305.4	-	4	362	c.173delC	c.(172-174)ccafs	p.P58fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.P58fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P58fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.P58fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Frame_Shift_Del_p.P58fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P58fs	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	58	Interaction with HRMT1L2.		P -> Q (in a sporadic cancer; somatic mutation).|P -> T (in a sporadic cancer; 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.P58L(1)|p.P58fs*65(1)|p.E51fs*59(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(1)|p.D57fs*86(1)|p.P58Q(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)	ATCTGGACCTGGGTCTTCAGT	0.602		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"""		17	Whole gene deletion(8)|Deletion - Frameshift(6)|Substitution - Missense(2)|Deletion - In frame(1)	p.0?(8)|p.P58L(1)|p.P58fs*65(1)|p.E51fs*59(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(1)|p.D57fs*86(1)|p.P58Q(1)	bone(4)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(2)|upper_aerodigestive_tract(1)|stomach(1)|liver(1)|urinary_tract(1)|oesophagus(1)|breast(1)|prostate(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(172-174)cafs	Other conserved DNA damage response genes	tumor protein p53							152.0	154.0	154.0					17																	7579514		2203	4300	6503	SO:0001589	frameshift_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.chr17:7579514delG	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.173delC	17.37:g.7579514delG	ENSP00000269305:p.Pro58fs	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_ENST00000359597.4_Frame_Shift_Del_p.P58fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P58fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P58fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P58fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P58fs	p.P58fs	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)	4	305	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	58		P -> Q (in a sporadic cancer; somatic mutation).|P -> T (in a sporadic cancer; somatic mutation).	Interaction with HRMT1L2.		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	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.173delC	CCDS11118.1																																																																																				0.602	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		48	156						48	156	---	---	---	---
HS3ST3A1	9955	broad.mit.edu	37	17	13400051	13400052	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr17:13400051_13400052delGC	ENST00000284110.1	-	2	1480_1481	c.683_684delGC	c.(682-684)cgcfs	p.R228fs	HS3ST3A1_ENST00000578576.1_Frame_Shift_Del_p.R26fs	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	228					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity (GO:0033872)|sulfotransferase activity (GO:0008146)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TGGCCGAGATGCGCGCGGGGGC	0.639																																						ENST00000284110.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(682-684)cfs		heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1																																				SO:0001589	frameshift_variant	9955					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity	g.chr17:13400051_13400052delGC	AF105376	CCDS11165.1	17p12	2007-04-02			ENSG00000153976	ENSG00000153976	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5196	protein-coding gene	gene with protein product		604057				9988767	Standard	NM_006042		Approved	3OST3A1, 30ST3A1	uc002gob.1	Q9Y663	OTTHUMG00000058768	ENST00000284110.1:c.683_684delGC	17.37:g.13400055_13400056delGC	ENSP00000284110:p.Arg228fs					HS3ST3A1_ENST00000578576.1_Frame_Shift_Del_p.R26fs	p.R228fs	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	2	1480_1481	-		all_lung(20;0.114)	228					A8K7N2	Frame_Shift_Del	DEL	ENST00000284110.1	37	c.683_684delGC	CCDS11165.1																																																																																				0.639	HS3ST3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129952.1	NM_006042		7	125						7	125	---	---	---	---
ABCA10	10349	broad.mit.edu	37	17	67148622	67148622	+	Splice_Site	DEL	C	C	-			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr17:67148622delC	ENST00000269081.4	-	36	5046	c.4137delG	c.(4135-4137)tgg>tg	p.W1379fs	ABCA10_ENST00000519732.1_5'UTR|ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1379	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GAAGTATCTGCCTAAAGATAA	0.403																																						ENST00000269081.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.e36-1		ATP-binding cassette, sub-family A (ABC1), member 10							106.0	98.0	101.0					17																	67148622		2203	4300	6503	SO:0001630	splice_region_variant	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67148622delC	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.4137-1G>-	17.37:g.67148622delC						ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR	p.W1379_splice	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN			36	5046	-	Breast(10;6.95e-12)		1379			ABC transporter 2.		C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Splice_Site	DEL	ENST00000269081.4	37	c.4136_splice	CCDS11684.1																																																																																				0.403	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282	Frame_Shift_Del	15	51						15	51	---	---	---	---
SUN5	140732	broad.mit.edu	37	20	31590391	31590392	+	Splice_Site	DEL	AC	AC	-			TCGA-F7-7848-01A-11D-2129-08	TCGA-F7-7848-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8a3e47-ee55-4c88-b29f-6d161ffae1d0	deac6477-626d-42a3-857d-c35b3cc86d2d	g.chr20:31590391_31590392delAC	ENST00000356173.3	-	3	304		c.e3+1		SUN5_ENST00000375523.3_Intron|SUN5_ENST00000375519.2_Splice_Site	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5						spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						GTATATACGTACACACACATCC	0.554																																						ENST00000356173.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						c.e3+1		Sad1 and UNC84 domain containing 5																																				SO:0001630	splice_region_variant	140732				spermatogenesis			g.chr20:31590391_31590392delAC	AL121756	CCDS13209.1	20q11.21	2010-01-27	2010-01-27	2010-01-27	ENSG00000167098	ENSG00000167098			16252	protein-coding gene	gene with protein product	"""testis and spermatogenesis related gene 4"""	613942	"""sperm associated antigen 4-like"""	SPAG4L		9691178, 10373309	Standard	NM_080675		Approved	dJ726C3.1, TSARG4	uc002wyi.3	Q8TC36	OTTHUMG00000032239	ENST00000356173.3:c.211+1GT>-	20.37:g.31590397_31590398delAC						SUN5_ENST00000375523.3_Intron|SUN5_ENST00000375519.2_Splice_Site		NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN			3	304	-								A6NJ82|Q5T9R0	Splice_Site	DEL	ENST00000356173.3	37		CCDS13209.1																																																																																				0.554	SUN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078659.1	NM_080675	Intron	15	37						15	37	---	---	---	---
