#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
KIF7	374654	broad.mit.edu	37	15	90190895	90190895	+	Silent	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr15:90190895G>T	ENST00000394412.3	-	6	1568	c.1492C>A	c.(1492-1494)Cgg>Agg	p.R498R		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	498					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			TCCTCCAGCCGCGCCACCTGG	0.672											OREG0023460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000394412.3																			0				central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25						c.(1492-1494)Cgg>Agg		kinesin family member 7							28.0	25.0	26.0					15																	90190895		2200	4299	6499	SO:0001819	synonymous_variant	374654				microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding	g.chr15:90190895G>T	AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"""Kinesins"""	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.1492C>A	15.37:g.90190895G>T			OREG0023460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1273		p.R498R	NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		6	1568	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		498					Q3SXY0|Q6UXE9|Q8IW72	Silent	SNP	ENST00000394412.3	37	c.1492C>A	CCDS32325.2																																																																																				0.672	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347782.1	NM_198525		9	5	1	0	3.09899e-07	1	3.59293e-07	9	5				
KCNB2	9312	broad.mit.edu	37	8	73848398	73848398	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr8:73848398G>C	ENST00000523207.1	+	3	1396	c.808G>C	c.(808-810)Gat>Cat	p.D270H		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	270					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	GAATGTCATTGATTTGCTGGC	0.468																																						ENST00000523207.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(808-810)Gat>Cat		potassium voltage-gated channel, Shab-related subfamily, member 2							142.0	134.0	136.0					8																	73848398		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73848398G>C	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.808G>C	8.37:g.73848398G>C	ENSP00000430846:p.Asp270His						p.D270H	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	1396	+	Breast(64;0.137)		270					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.808G>C	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.674969	0.88445	.	.	ENSG00000182674	ENST00000523207	D	0.99394	-5.82	5.93	5.93	0.95920	Ion transport (1);	0.000000	0.47093	D	0.000244	D	0.99789	0.9911	H	0.99626	4.665	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96804	0.9591	10	0.87932	D	0	.	20.3507	0.98813	0.0:0.0:1.0:0.0	.	270	Q92953	KCNB2_HUMAN	H	270	ENSP00000430846:D270H	ENSP00000430846:D270H	D	+	1	0	KCNB2	74010952	1.000000	0.71417	0.998000	0.56505	0.825000	0.46686	9.869000	0.99810	2.808000	0.96608	0.655000	0.94253	GAT		0.468	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		35	62	0	0	0	1	0	35	62				
OR5J2	282775	broad.mit.edu	37	11	55944359	55944359	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:55944359A>T	ENST00000312298.1	+	1	266	c.266A>T	c.(265-267)aAg>aTg	p.K89M		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	89						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					CTGGTTGTGAAGGCAACAATT	0.458																																						ENST00000312298.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44						c.(265-267)aAg>aTg		olfactory receptor, family 5, subfamily J, member 2							175.0	142.0	153.0					11																	55944359		2201	4295	6496	SO:0001583	missense	282775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55944359A>T	AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"""GPCR / Class A : Olfactory receptors"""	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.266A>T	11.37:g.55944359A>T	ENSP00000310788:p.Lys89Met						p.K89M	NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN			1	266	+	Esophageal squamous(21;0.00693)		89					Q6IEU5	Missense_Mutation	SNP	ENST00000312298.1	37	c.266A>T	CCDS31522.1	.	.	.	.	.	.	.	.	.	.	A	13.35	2.211547	0.39102	.	.	ENSG00000174957	ENST00000312298	T	0.01323	5.01	4.57	-4.96	0.03038	GPCR, rhodopsin-like superfamily (1);	1.359470	0.04879	N	0.447297	T	0.02380	0.0073	M	0.71581	2.175	0.09310	N	1	P	0.50710	0.938	P	0.44447	0.45	T	0.36383	-0.9750	10	0.66056	D	0.02	.	3.4619	0.07536	0.3528:0.1186:0.4122:0.1164	.	89	Q8NH18	OR5J2_HUMAN	M	89	ENSP00000310788:K89M	ENSP00000310788:K89M	K	+	2	0	OR5J2	55700935	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.505000	0.00963	-0.712000	0.04988	-1.650000	0.00758	AAG		0.458	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1	NM_001005492		38	58	0	0	0	1	0	38	58				
SNTB1	6641	broad.mit.edu	37	8	121705982	121705982	+	Silent	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr8:121705982G>C	ENST00000395601.3	-	3	1152	c.738C>G	c.(736-738)ctC>ctG	p.L246L	SNTB1_ENST00000517992.1_Silent_p.L246L|SNTB1_ENST00000519177.1_5'UTR	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	246	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|protein complex (GO:0043234)|synapse (GO:0045202)				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			AGCACATTTTGAGGGGGATGC	0.567																																						ENST00000395601.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24						c.(736-738)ctC>ctG		syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)							95.0	83.0	87.0					8																	121705982		2203	4300	6503	SO:0001819	synonymous_variant	6641				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding	g.chr8:121705982G>C	AF028828	CCDS6334.1	8q23-q24	2013-01-10	2002-08-29		ENSG00000172164	ENSG00000172164		"""Pleckstrin homology (PH) domain containing"""	11168	protein-coding gene	gene with protein product	"""tax interaction protein 43"""	600026	"""syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic component 1)"""	SNT2B1		8183929, 9482110	Standard	NM_021021		Approved	59-DAP, A1B, BSYN2, TIP-43, SNT2	uc010mdg.3	Q13884	OTTHUMG00000165041	ENST00000395601.3:c.738C>G	8.37:g.121705982G>C						SNTB1_ENST00000519177.1_5'UTR|SNTB1_ENST00000517992.1_Silent_p.L246L	p.L246L	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		3	1152	-	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		246			PH 1.		A8K9E0|O14912|Q4KMG8	Silent	SNP	ENST00000395601.3	37	c.738C>G	CCDS6334.1																																																																																				0.567	SNTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381535.1	NM_021021		10	66	0	0	0	1	0	10	66				
DNAAF1	123872	broad.mit.edu	37	16	84203679	84203679	+	Silent	SNP	C	C	A	rs147804813	byFrequency	TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr16:84203679C>A	ENST00000378553.5	+	8	1369	c.1245C>A	c.(1243-1245)acC>acA	p.T415T	DNAAF1_ENST00000334315.5_Intron|DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	415	Pro-rich.				axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						CAGAGGGGACCCTCCCAGCTG	0.622																																						ENST00000378553.5																			0				NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						c.(1243-1245)acC>acA		dynein, axonemal, assembly factor 1							65.0	67.0	66.0					16																	84203679		2200	4300	6500	SO:0001819	synonymous_variant	123872				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding	g.chr16:84203679C>A	BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"""outer row dynein assembly 7 homolog (Chlamydomonas)"""	613190	"""leucine rich repeat containing 50"""	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.1245C>A	16.37:g.84203679C>A						DNAAF1_ENST00000334315.5_Intron|DNAAF1_ENST00000563818.1_3'UTR	p.T415T	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN			8	1369	+			415			Pro-rich.		B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Silent	SNP	ENST00000378553.5	37	c.1245C>A	CCDS10943.2																																																																																				0.622	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3	NM_178452		31	49	1	0	6.00712e-18	1	8.15801e-18	31	49				
PCK2	5106	broad.mit.edu	37	14	24572007	24572007	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr14:24572007C>T	ENST00000216780.4	+	8	1548	c.1280C>T	c.(1279-1281)cCg>cTg	p.P427L	PCK2_ENST00000558096.1_Missense_Mutation_p.P293L|NRL_ENST00000561028.1_Intron|PCK2_ENST00000559250.1_Missense_Mutation_p.P439L|PCK2_ENST00000545054.2_Missense_Mutation_p.P293L|PCK2_ENST00000561286.1_Missense_Mutation_p.P293L	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	427					carbohydrate metabolic process (GO:0005975)|cellular response to glucose stimulus (GO:0071333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|NADH oxidation (GO:0006116)|oxaloacetate metabolic process (GO:0006107)|positive regulation of insulin secretion (GO:0032024)|pyruvate metabolic process (GO:0006090)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)|phosphoenolpyruvate carboxykinase activity (GO:0004611)			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		TTTTGTGCCCCGGCTCGCCAG	0.562																																						ENST00000545054.2																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18						c.(877-879)cCg>cTg		phosphoenolpyruvate carboxykinase 2 (mitochondrial)							98.0	104.0	102.0					14																	24572007		2203	4300	6503	SO:0001583	missense	5106				gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr14:24572007C>T	AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	4.1.1.32		8725	protein-coding gene	gene with protein product		614095				8645161, 9657976	Standard	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000216780.4:c.1280C>T	14.37:g.24572007C>T	ENSP00000216780:p.Pro427Leu					PCK2_ENST00000561286.1_Missense_Mutation_p.P293L|PCK2_ENST00000559250.1_Missense_Mutation_p.P439L|NRL_ENST00000561028.1_Intron|PCK2_ENST00000558096.1_Missense_Mutation_p.P293L|PCK2_ENST00000216780.4_Missense_Mutation_p.P427L	p.P293L			Q16822	PCKGM_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	8	1796	+			427					O43253|Q86U01|Q9BV62	Missense_Mutation	SNP	ENST00000216780.4	37	c.878C>T	CCDS9609.1	.	.	.	.	.	.	.	.	.	.	C	34	5.338261	0.95783	.	.	ENSG00000100889	ENST00000216780;ENST00000545054	T;T	0.13196	2.61;2.61	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.54951	0.1890	H	0.97440	4.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.71391	-0.4607	10	0.87932	D	0	-8.185	17.3039	0.87189	0.0:1.0:0.0:0.0	.	293;427;427	B4DW73;Q16822;Q6IB91	.;PCKGM_HUMAN;.	L	427;293	ENSP00000216780:P427L;ENSP00000441826:P293L	ENSP00000216780:P427L	P	+	2	0	PCK2	23641847	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.399000	0.79935	2.696000	0.92011	0.655000	0.94253	CCG		0.562	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071900.3	NM_001018073		20	109	0	0	0	1	0	20	109				
CDH22	64405	broad.mit.edu	37	20	44841709	44841709	+	Missense_Mutation	SNP	C	C	A	rs370232478		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr20:44841709C>A	ENST00000372262.3	-	5	1357	c.957G>T	c.(955-957)gaG>gaT	p.E319D	CDH22_ENST00000537909.1_Missense_Mutation_p.E319D|CDH22_ENST00000474438.1_5'UTR	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	319	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CGCTGCTGCTCTCGTCCTTAA	0.582																																						ENST00000372262.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44						c.(955-957)gaG>gaT		cadherin 22, type 2							171.0	104.0	127.0					20																	44841709		2203	4300	6503	SO:0001583	missense	64405				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:44841709C>A	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"""Cadherins / Major cadherins"""	13251	protein-coding gene	gene with protein product		609920	"""cadherin-like 22"""	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.957G>T	20.37:g.44841709C>A	ENSP00000361336:p.Glu319Asp					CDH22_ENST00000474438.1_5'UTR|CDH22_ENST00000537909.1_Missense_Mutation_p.E319D	p.E319D	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN			5	1357	-		Myeloproliferative disorder(115;0.0122)	319			Cadherin 3.		B9EGK7|O43205	Missense_Mutation	SNP	ENST00000372262.3	37	c.957G>T	CCDS13395.1	.	.	.	.	.	.	.	.	.	.	c	4.989	0.183585	0.09495	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.37411	1.2;1.2	4.17	2.19	0.27852	Cadherin (4);Cadherin-like (1);	0.442996	0.23784	N	0.044589	T	0.25901	0.0631	N	0.16233	0.39	0.28579	N	0.910218	P	0.51791	0.948	P	0.54815	0.761	T	0.11991	-1.0565	10	0.11182	T	0.66	.	3.9161	0.09224	0.167:0.5818:0.1618:0.0894	.	319	Q9UJ99	CAD22_HUMAN	D	319	ENSP00000361336:E319D;ENSP00000437790:E319D	ENSP00000361336:E319D	E	-	3	2	CDH22	44275116	0.998000	0.40836	0.979000	0.43373	0.092000	0.18411	0.659000	0.24994	0.404000	0.25506	-0.273000	0.10243	GAG		0.582	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248		17	22	1	0	5.01169e-05	1	5.54419e-05	17	22				
IFT81	28981	broad.mit.edu	37	12	110566905	110566905	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:110566905G>T	ENST00000242591.5	+	4	905	c.399G>T	c.(397-399)caG>caT	p.Q133H	IFT81_ENST00000552912.1_Missense_Mutation_p.Q133H|IFT81_ENST00000361948.4_Missense_Mutation_p.Q133H	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81	133					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|spermatogenesis (GO:0007283)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	tubulin binding (GO:0015631)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						AGTTTCTTCAGGATGAAACTG	0.348																																						ENST00000242591.5																			0				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						c.(397-399)caG>caT		intraflagellar transport 81 homolog (Chlamydomonas)							64.0	64.0	64.0					12																	110566905		2203	4300	6503	SO:0001583	missense	28981				cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum		g.chr12:110566905G>T	AF139540	CCDS9142.1, CCDS41831.1	12q24.13	2014-07-03	2014-07-03	2005-11-02		ENSG00000122970		"""Intraflagellar transport homologs"""	14313	protein-coding gene	gene with protein product		605489	"""carnitine deficiency-associated, expressed in ventricle 1"", ""intraflagellar transport 81 homolog (Chlamydomonas)"""	CDV1		11130971	Standard	NM_014055		Approved	CDV-1R, MGC4027	uc001tqi.3	Q8WYA0	OTTHUMG00000169326	ENST00000242591.5:c.399G>T	12.37:g.110566905G>T	ENSP00000242591:p.Gln133His					IFT81_ENST00000552912.1_Missense_Mutation_p.Q133H|IFT81_ENST00000361948.4_Missense_Mutation_p.Q133H	p.Q133H	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN			4	905	+			133					Q2YDY1|Q8NB51|Q9BSV2|Q9UNY8	Missense_Mutation	SNP	ENST00000242591.5	37	c.399G>T	CCDS41831.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.097202	0.37048	.	.	ENSG00000122970	ENST00000361948;ENST00000552912;ENST00000242591;ENST00000546374	T;T	0.76578	1.36;-1.03	5.55	3.69	0.42338	.	0.051657	0.85682	D	0.000000	T	0.70996	0.3288	L	0.56280	1.765	0.80722	D	1	B;B	0.31209	0.313;0.2	B;B	0.32289	0.143;0.051	T	0.69457	-0.5140	10	0.44086	T	0.13	-13.5532	9.3362	0.38051	0.2291:0.0:0.7709:0.0	.	133;133	Q8WYA0;Q8WYA0-3	IFT81_HUMAN;.	H	133	ENSP00000355372:Q133H;ENSP00000446950:Q133H	ENSP00000242591:Q133H	Q	+	3	2	IFT81	109051288	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.982000	0.29539	1.316000	0.45131	0.467000	0.42956	CAG		0.348	IFT81-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403529.1	NM_014055		15	18	1	0	3.52763e-06	1	3.96859e-06	15	18				
HBD	3045	broad.mit.edu	37	11	5254322	5254322	+	Splice_Site	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:5254322G>A	ENST00000380299.3	-	3	530	c.316C>T	c.(316-318)Ctc>Ttc	p.L106F	HBD_ENST00000292901.3_Intron	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	106					blood coagulation (GO:0007596)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGCCCAAGAGCTGCGGAGAA	0.502																																						ENST00000380299.3																			0				endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16						c.e3-1		hemoglobin, delta							90.0	76.0	81.0					11																	5254322		2201	4298	6499	SO:0001630	splice_region_variant	3045				blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr11:5254322G>A	AY034468	CCDS31376.1	11p15.5	2012-10-02			ENSG00000223609	ENSG00000223609			4829	protein-coding gene	gene with protein product		142000				2649166	Standard	NM_000519		Approved		uc001maf.1	P02042	OTTHUMG00000066674	ENST00000380299.3:c.316-1C>T	11.37:g.5254322G>A						HBD_ENST00000292901.3_Intron	p.L106_splice	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)	3	530	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	106					Q3Y5H3|Q8WXT7	Splice_Site	SNP	ENST00000380299.3	37	c.315_splice	CCDS31376.1	.	.	.	.	.	.	.	.	.	.	g	13.65	2.300107	0.40694	.	.	ENSG00000223609	ENST00000380299	D	0.94758	-3.51	4.69	3.7	0.42460	Globin-like (1);Globin, structural domain (1);	0.288098	0.34484	N	0.003933	D	0.96784	0.8950	M	0.84683	2.71	0.50467	D	0.999874	D	0.89917	1.0	D	0.87578	0.998	D	0.96223	0.9162	10	0.87932	D	0	-7.0931	9.5793	0.39477	0.0:0.0:0.7911:0.2089	.	106	P02042	HBD_HUMAN	F	106	ENSP00000369654:L106F	ENSP00000369654:L106F	L	-	1	0	HBD	5210898	1.000000	0.71417	1.000000	0.80357	0.068000	0.16541	3.682000	0.54656	2.590000	0.87494	0.655000	0.94253	CTC		0.502	HBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142970.1	NM_000519	Missense_Mutation	12	30	0	0	0	1	0	12	30				
MAATS1	89876	broad.mit.edu	37	3	119466698	119466698	+	Missense_Mutation	SNP	G	G	A	rs193146105		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr3:119466698G>A	ENST00000273390.5	+	16	2169	c.2092G>A	c.(2092-2094)Gtt>Att	p.V698I	RP11-169N13.4_ENST00000489428.2_RNA	NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	534						mitochondrion (GO:0005739)											TGCTGAGTTGGTTTATAGTTT	0.308													G|||	1	0.000199681	0.0	0.0	5008	,	,		19042	0.001		0.0	False		,,,				2504	0.0					ENST00000273390.5																			0											c.(2092-2094)Gtt>Att		MYCBP-associated, testis expressed 1							91.0	91.0	91.0					3																	119466698		2203	4300	6503	SO:0001583	missense	89876							g.chr3:119466698G>A	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"""AMY-1-associating protein expressed in testis 1"", ""MYCBP-binding protein"", ""spermatogenesis associated 26"""	609910	"""chromosome 3 open reading frame 15"", ""MYCBP/AMY-1-associated, testis expressed 1"""	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.2092G>A	3.37:g.119466698G>A	ENSP00000273390:p.Val698Ile					RP11-169N13.4_ENST00000489428.2_RNA	p.V698I	NM_033364.3	NP_203528.2					16	2169	+								A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	ENST00000273390.5	37	c.2092G>A	CCDS2994.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	22.6	4.315570	0.81469	.	.	ENSG00000183833	ENST00000273390	T	0.35048	1.33	5.43	5.43	0.79202	.	0.060467	0.64402	D	0.000004	T	0.60818	0.2298	M	0.66439	2.03	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.997	P;D;P	0.76071	0.892;0.987;0.892	T	0.60311	-0.7288	10	0.59425	D	0.04	-14.5155	19.4372	0.94801	0.0:0.0:1.0:0.0	.	534;636;698	Q7Z4T9;Q7Z4T9-3;Q7Z4T9-7	AAT1_HUMAN;.;.	I	698	ENSP00000273390:V698I	ENSP00000273390:V698I	V	+	1	0	C3orf15	120949388	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.632000	0.67819	2.827000	0.97445	0.650000	0.86243	GTT		0.308	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364		8	8	0	0	0	1	0	8	8				
TMEM74	157753	broad.mit.edu	37	8	109796736	109796736	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr8:109796736C>G	ENST00000297459.3	-	2	770	c.592G>C	c.(592-594)Gtc>Ctc	p.V198L	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	198					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			TCCCGTGGGACGATGTAAGAG	0.572																																						ENST00000297459.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29						c.(592-594)Gtc>Ctc		transmembrane protein 74							87.0	77.0	81.0					8																	109796736		2203	4300	6503	SO:0001583	missense	157753				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane		g.chr8:109796736C>G	AK055230	CCDS6310.1	8q23.1	2009-11-06				ENSG00000164841			26409	protein-coding gene	gene with protein product		613935				12477932	Standard	NM_153015		Approved	FLJ30668, NET36	uc003ymy.1	Q96NL1		ENST00000297459.3:c.592G>C	8.37:g.109796736C>G	ENSP00000297459:p.Val198Leu					TMEM74_ENST00000518838.1_Intron	p.V198L	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)		2	770	-			198						Missense_Mutation	SNP	ENST00000297459.3	37	c.592G>C	CCDS6310.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.043450	0.55003	.	.	ENSG00000164841	ENST00000297459	T	0.16743	2.32	5.42	4.55	0.56014	.	0.192045	0.44483	D	0.000443	T	0.25082	0.0609	L	0.61218	1.895	0.58432	D	0.999993	P	0.51653	0.947	P	0.48166	0.569	T	0.02282	-1.1183	10	0.66056	D	0.02	-17.0115	11.1959	0.48713	0.0:0.8539:0.0:0.1461	.	198	Q96NL1	TMM74_HUMAN	L	198	ENSP00000297459:V198L	ENSP00000297459:V198L	V	-	1	0	TMEM74	109865912	0.998000	0.40836	0.978000	0.43139	0.810000	0.45777	3.853000	0.55941	1.528000	0.49103	0.650000	0.86243	GTC		0.572	TMEM74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380755.1	NM_153015		14	37	0	0	0	1	0	14	37				
SLC35G3	146861	broad.mit.edu	37	17	33520759	33520759	+	Missense_Mutation	SNP	C	C	G	rs201078434		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:33520759C>G	ENST00000297307.5	-	1	653	c.568G>C	c.(568-570)Gcc>Ccc	p.A190P	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	190						integral component of membrane (GO:0016021)											TAGCCCAGGGCGGTGTAGACA	0.597																																						ENST00000297307.5																			0											c.(568-570)Gcc>Ccc		solute carrier family 35, member G3							121.0	126.0	124.0					17																	33520759		2203	4300	6503	SO:0001583	missense	146861					integral to membrane		g.chr17:33520759C>G	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.568G>C	17.37:g.33520759C>G	ENSP00000297307:p.Ala190Pro						p.A190P	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	653	-			190					B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	c.568G>C	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	C	7.367	0.626061	0.14257	.	.	ENSG00000164729	ENST00000297307	T	0.34275	1.37	.	.	.	.	0.138504	0.32287	N	0.006302	T	0.16769	0.0403	L	0.29908	0.895	0.39059	D	0.960487	P	0.43169	0.8	B	0.33042	0.157	T	0.08289	-1.0729	9	0.37606	T	0.19	-0.7964	2.6646	0.05037	0.0:0.5037:0.0:0.4962	.	190	Q8N808	S35G3_HUMAN	P	190	ENSP00000297307:A190P	ENSP00000297307:A190P	A	-	1	0	SLC35G3	30544872	0.976000	0.34144	0.225000	0.23894	0.226000	0.24999	1.296000	0.33389	0.064000	0.16427	0.064000	0.15345	GCC		0.597	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		63	107	0	0	0	1	0	63	107				
PRAM1	84106	broad.mit.edu	37	19	8563374	8563374	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:8563374G>A	ENST00000423345.4	-	2	1838	c.1318C>T	c.(1318-1320)Cgg>Tgg	p.R440W	PRAM1_ENST00000255612.3_Missense_Mutation_p.R440W			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	488	Pro-rich.				integrin-mediated signaling pathway (GO:0007229)|regulation of neutrophil degranulation (GO:0043313)		lipid binding (GO:0008289)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						GGCCTCCGCCGGGGTGGATGG	0.716																																						ENST00000423345.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						c.(1318-1320)Cgg>Tgg		PML-RARA regulated adaptor molecule 1							9.0	12.0	11.0					19																	8563374		1831	3964	5795	SO:0001583	missense	84106						lipid binding|protein binding	g.chr19:8563374G>A	BC028012	CCDS45954.1, CCDS45954.2	19p13.2	2009-01-21				ENSG00000133246			30091	protein-coding gene	gene with protein product		606466				11301322, 15572693	Standard	NM_032152		Approved	PML-RAR	uc002mkd.3	Q96QH2		ENST00000423345.4:c.1318C>T	19.37:g.8563374G>A	ENSP00000408342:p.Arg440Trp					PRAM1_ENST00000255612.3_Missense_Mutation_p.R440W	p.R440W			Q96QH2	PRAM_HUMAN			2	1838	-			488			Pro-rich.		Q8N6W7	Missense_Mutation	SNP	ENST00000423345.4	37	c.1318C>T	CCDS45954.2	.	.	.	.	.	.	.	.	.	.	G	19.94	3.920667	0.73213	.	.	ENSG00000133246	ENST00000255612;ENST00000423345	T;T	0.18338	2.22;2.22	4.72	4.72	0.59763	.	0.194872	0.25735	N	0.028650	T	0.38188	0.1031	L	0.57536	1.79	0.33745	D	0.619926	D;D	0.89917	1.0;1.0	D;D	0.79108	0.984;0.992	T	0.50841	-0.8780	10	0.87932	D	0	.	15.252	0.73556	0.0:0.0:1.0:0.0	.	440;488	Q96QH2-2;Q96QH2	.;PRAM_HUMAN	W	440	ENSP00000255612:R440W;ENSP00000408342:R440W	ENSP00000255612:R440W	R	-	1	2	PRAM1	8469374	0.996000	0.38824	0.529000	0.27951	0.768000	0.43524	2.911000	0.48774	2.560000	0.86352	0.462000	0.41574	CGG		0.716	PRAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397040.3	NM_032152		10	13	0	0	0	1	0	10	13				
OR1L4	254973	broad.mit.edu	37	9	125486317	125486317	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:125486317G>T	ENST00000259466.1	+	1	49	c.49G>T	c.(49-51)Ggc>Tgc	p.G17C		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						CATCCTCCTGGGCCTCTCTTC	0.498																																						ENST00000259466.1																			0				breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						c.(49-51)Ggc>Tgc		olfactory receptor, family 1, subfamily L, member 4							206.0	195.0	199.0					9																	125486317		2203	4300	6503	SO:0001583	missense	254973				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125486317G>T		CCDS35129.1	9q33.2	2013-09-20			ENSG00000136939	ENSG00000136939		"""GPCR / Class A : Olfactory receptors"""	8216	protein-coding gene	gene with protein product				OR1L5			Standard	NM_001005235		Approved	OR9-E	uc004bmu.1	Q8NGR5	OTTHUMG00000020620	ENST00000259466.1:c.49G>T	9.37:g.125486317G>T	ENSP00000259466:p.Gly17Cys						p.G17C	NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN			1	49	+			17					Q6IFN0|Q96R81	Missense_Mutation	SNP	ENST00000259466.1	37	c.49G>T	CCDS35129.1	.	.	.	.	.	.	.	.	.	.	g	16.58	3.162534	0.57368	.	.	ENSG00000136939	ENST00000259466	T	0.00662	5.93	3.94	3.94	0.45596	.	0.000000	0.51477	D	0.000088	T	0.07143	0.0181	H	0.94698	3.57	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	T	0.02533	-1.1145	10	0.87932	D	0	-18.3344	14.9001	0.70672	0.0:0.0:1.0:0.0	.	17	Q8NGR5	OR1L4_HUMAN	C	17	ENSP00000259466:G17C	ENSP00000259466:G17C	G	+	1	0	OR1L4	124526138	1.000000	0.71417	1.000000	0.80357	0.514000	0.34195	2.837000	0.48191	2.023000	0.59567	0.305000	0.20034	GGC		0.498	OR1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053951.1			59	145	1	0	3.30226e-22	1	4.676e-22	59	145				
APRT	353	broad.mit.edu	37	16	88874608	88874608	+	IGR	SNP	C	C	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr16:88874608C>G	ENST00000378364.3	-	0	947				CDT1_ENST00000301019.4_Silent_p.V521V	NM_000485.2	NP_000476.1	P07741	APT_HUMAN	adenine phosphoribosyltransferase						adenine salvage (GO:0006168)|AMP salvage (GO:0044209)|cellular response to insulin stimulus (GO:0032869)|grooming behavior (GO:0007625)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	adenine binding (GO:0002055)|adenine phosphoribosyltransferase activity (GO:0003999)|AMP binding (GO:0016208)			cervix(1)|endometrium(1)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(80;0.0477)	Adenine(DB00173)|Adenosine monophosphate(DB00131)	ACACCTACGTCAAGCTGGACA	0.672																																						ENST00000301019.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7						c.(1561-1563)gtC>gtG		chromatin licensing and DNA replication factor 1							52.0	41.0	45.0					16																	88874608		2194	4298	6492	SO:0001628	intergenic_variant	81620				DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding	g.chr16:88874608C>G		CCDS32511.1, CCDS45546.1	16q24	2012-10-02				ENSG00000198931	2.4.2.7		626	protein-coding gene	gene with protein product		102600					Standard	NM_000485		Approved		uc002flv.3	P07741			16.37:g.88874608C>G							p.V521V	NM_030928.3	NP_112190.2	Q9H211	CDT1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0476)	10	2182	+			521					G5E9J2|Q3KP55|Q68DF9	Silent	SNP	ENST00000378364.3	37	c.1563C>G	CCDS32511.1																																																																																				0.672	APRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430000.2	NM_000485		8	16	0	0	0	1	0	8	16				
IGF2R	3482	broad.mit.edu	37	6	160505046	160505046	+	Silent	SNP	A	A	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:160505046A>G	ENST00000356956.1	+	40	6046	c.5898A>G	c.(5896-5898)ccA>ccG	p.P1966P		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1966					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	TTGGGAGGCCACAAGTCTTCA	0.463																																						ENST00000356956.1																			0				breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(5896-5898)ccA>ccG		insulin-like growth factor 2 receptor							148.0	131.0	137.0					6																	160505046		2203	4300	6503	SO:0001819	synonymous_variant	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160505046A>G	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.5898A>G	6.37:g.160505046A>G							p.P1966P	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	40	6046	+		Breast(66;0.000777)|Ovarian(120;0.0305)	1966					Q7Z7G9|Q96PT5	Silent	SNP	ENST00000356956.1	37	c.5898A>G	CCDS5273.1																																																																																				0.463	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		43	68	0	0	0	1	0	43	68				
NIM1K	167359	broad.mit.edu	37	5	43246074	43246074	+	Missense_Mutation	SNP	C	C	G	rs200164841	byFrequency	TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr5:43246074C>G	ENST00000512796.1	+	2	1696	c.197C>G	c.(196-198)aCg>aGg	p.T66R	NIM1_ENST00000326035.2_Missense_Mutation_p.T66R			Q8IY84	NIM1_HUMAN		66					protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)										AGGGAGATCACGCTGGGGAAA	0.552																																						ENST00000512796.1																			0											c.(196-198)aCg>aGg									100.0	95.0	97.0					5																	43246074		2203	4300	6503	SO:0001583	missense	167359						ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:43246074C>G																												ENST00000512796.1:c.197C>G	5.37:g.43246074C>G	ENSP00000420849:p.Thr66Arg					NIM1_ENST00000326035.2_Missense_Mutation_p.T66R	p.T66R			Q8IY84	NIM1_HUMAN			2	1696	+			66					B3KVM1	Missense_Mutation	SNP	ENST00000512796.1	37	c.197C>G	CCDS3943.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.549981	0.86127	.	.	ENSG00000177453	ENST00000326035;ENST00000512796	T;T	0.72282	-0.64;-0.64	5.83	5.83	0.93111	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.73791	0.3632	M	0.70275	2.135	0.80722	D	1	P	0.39696	0.683	B	0.40038	0.317	T	0.72613	-0.4240	9	.	.	.	.	20.1356	0.98028	0.0:1.0:0.0:0.0	.	66	Q8IY84	NIM1_HUMAN	R	66	ENSP00000313572:T66R;ENSP00000420849:T66R	.	T	+	2	0	AC114947.1	43281831	1.000000	0.71417	0.965000	0.40720	0.554000	0.35429	4.734000	0.62043	2.755000	0.94549	0.650000	0.86243	ACG		0.552	NIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368017.1			22	71	0	0	0	1	0	22	71				
ZCCHC16	340595	broad.mit.edu	37	X	111698150	111698150	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chrX:111698150A>G	ENST00000340433.2	+	1	424	c.194A>G	c.(193-195)cAt>cGt	p.H65R		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	65							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						ACCCAGTTTCATGGTGACCCT	0.512																																						ENST00000340433.2																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(193-195)cAt>cGt		zinc finger, CCHC domain containing 16							137.0	99.0	112.0					X																	111698150		2203	4300	6503	SO:0001583	missense	340595						nucleic acid binding|zinc ion binding	g.chrX:111698150A>G	AK128465	CCDS35369.1	Xq23	2008-05-02			ENSG00000187823	ENSG00000187823		"""Zinc fingers, CCHC domain containing"""	25214	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_001004308		Approved	Mart4, Mar4, FLJ46608	uc004epo.1	Q6ZR62	OTTHUMG00000159706	ENST00000340433.2:c.194A>G	X.37:g.111698150A>G	ENSP00000340590:p.His65Arg						p.H65R	NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN			1	424	+			65					B2RPG1	Missense_Mutation	SNP	ENST00000340433.2	37	c.194A>G	CCDS35369.1	.	.	.	.	.	.	.	.	.	.	A	6.859	0.527808	0.13127	.	.	ENSG00000187823	ENST00000340433	T	0.38401	1.14	4.04	0.401	0.16338	.	0.626027	0.13896	N	0.355272	T	0.20170	0.0485	N	0.20986	0.625	0.09310	N	1	B	0.11235	0.004	B	0.11329	0.006	T	0.20338	-1.0278	10	0.27082	T	0.32	-3.3504	5.6935	0.17843	0.6276:0.0:0.3724:0.0	.	65	Q6ZR62	ZCH16_HUMAN	R	65	ENSP00000340590:H65R	ENSP00000340590:H65R	H	+	2	0	ZCCHC16	111584806	0.009000	0.17119	0.005000	0.12908	0.704000	0.40688	0.091000	0.15046	-0.033000	0.13736	0.486000	0.48141	CAT		0.512	ZCCHC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356964.1	NM_001004308		27	9	0	0	0	1	0	27	9				
FAM69B	138311	broad.mit.edu	37	9	139616668	139616668	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:139616668C>G	ENST00000371692.4	+	4	494	c.398C>G	c.(397-399)cCc>cGc	p.P133R	SNHG7_ENST00000416970.1_RNA|FAM69B_ENST00000371691.1_Missense_Mutation_p.P46R|SNHG7_ENST00000414282.1_RNA|SNHG7_ENST00000436596.1_RNA	NM_152421.3	NP_689634.2	Q5VUD6	FA69B_HUMAN	family with sequence similarity 69, member B	133						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		GATGCGGCCCCCCGGCGGGAG	0.627																																						ENST00000371691.1																			0				NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8						c.(136-138)cCc>cGc		family with sequence similarity 69, member B							51.0	54.0	53.0					9																	139616668		2203	4300	6503	SO:0001583	missense	138311					endoplasmic reticulum membrane|integral to membrane		g.chr9:139616668C>G		CCDS7004.1	9q34.3	2012-08-03			ENSG00000165716	ENSG00000165716			28290	protein-coding gene	gene with protein product		614543				21334309	Standard	NM_152421		Approved	MGC20262, C9orf136	uc004cik.3	Q5VUD6	OTTHUMG00000020940	ENST00000371692.4:c.398C>G	9.37:g.139616668C>G	ENSP00000360757:p.Pro133Arg					FAM69B_ENST00000371692.4_Missense_Mutation_p.P133R|SNHG7_ENST00000414282.1_RNA	p.P46R			Q5VUD6	FA69B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)	2	1236	+	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)	133					Q5VUD7|Q8N5N0|Q8WYU5	Missense_Mutation	SNP	ENST00000371692.4	37	c.137C>G	CCDS7004.1	.	.	.	.	.	.	.	.	.	.	c	12.76	2.034083	0.35893	.	.	ENSG00000165716	ENST00000371692;ENST00000371691	T;T	0.42900	0.96;0.96	4.6	4.6	0.57074	.	0.203405	0.43110	D	0.000612	T	0.42832	0.1220	M	0.66297	2.02	0.48571	D	0.99967	B	0.10296	0.003	B	0.11329	0.006	T	0.34700	-0.9818	10	0.22109	T	0.4	-31.9624	16.4559	0.84012	0.0:1.0:0.0:0.0	.	133	Q5VUD6	FA69B_HUMAN	R	133;46	ENSP00000360757:P133R;ENSP00000360756:P46R	ENSP00000360756:P46R	P	+	2	0	FAM69B	138736489	0.917000	0.31117	0.898000	0.35279	0.603000	0.37013	3.209000	0.51122	2.134000	0.65973	0.478000	0.44815	CCC		0.627	FAM69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055102.1	NM_152421		5	43	0	0	0	1	0	5	43				
R3HCC1L	27291	broad.mit.edu	37	10	99969345	99969345	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr10:99969345A>G	ENST00000298999.3	+	5	1777	c.1474A>G	c.(1474-1476)Agt>Ggt	p.S492G	R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370584.3_Missense_Mutation_p.S492G	NM_014472.4	NP_055287	Q7Z5L2	R3HCL_HUMAN	R3H domain and coiled-coil containing 1-like	492							nucleotide binding (GO:0000166)										CTCTGAACTCAGTATGTTAAA	0.403																																						ENST00000298999.3																			0											c.(1474-1476)Agt>Ggt		R3H domain and coiled-coil containing 1-like							69.0	67.0	68.0					10																	99969345		2203	4300	6503	SO:0001583	missense	27291							g.chr10:99969345A>G	AF525304	CCDS31267.1, CCDS58093.1, CCDS73178.1	10q24.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166024	ENSG00000166024			23512	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 28"""	C10orf28			Standard	NM_014472		Approved	GIDRP86, PSORT	uc001kox.4	Q7Z5L2	OTTHUMG00000018873	ENST00000298999.3:c.1474A>G	10.37:g.99969345A>G	ENSP00000298999:p.Ser492Gly					R3HCC1L_ENST00000370584.3_Missense_Mutation_p.S492G|R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000314594.5_5'UTR	p.S492G	NM_014472.4	NP_055287.4					5	1777	+								O60598|Q5W0B4|Q5W0B5|Q86VT9|Q8N9H0	Missense_Mutation	SNP	ENST00000298999.3	37	c.1474A>G	CCDS31267.1	.	.	.	.	.	.	.	.	.	.	A	6.287	0.421137	0.11928	.	.	ENSG00000166024	ENST00000370584;ENST00000298999	T;T	0.07444	3.19;3.19	5.29	-0.283	0.12874	.	0.453160	0.24022	N	0.042264	T	0.06917	0.0176	M	0.62723	1.935	0.22745	N	0.998784	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.002	T	0.29027	-1.0025	9	.	.	.	-0.553	1.5608	0.02594	0.4057:0.3215:0.0953:0.1775	.	492;492	Q7Z5L2;Q7Z5L2-2	GIDRP_HUMAN;.	G	492	ENSP00000359616:S492G;ENSP00000298999:S492G	.	S	+	1	0	C10orf28	99959335	0.835000	0.29415	0.896000	0.35187	0.932000	0.56968	0.704000	0.25661	0.311000	0.23014	-0.338000	0.08134	AGT		0.403	R3HCC1L-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049764.1	NM_014472		44	12	0	0	0	1	0	44	12				
PRKCB	5579	broad.mit.edu	37	16	24135177	24135177	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr16:24135177A>G	ENST00000321728.7	+	9	1115	c.940A>G	c.(940-942)Acc>Gcc	p.T314A	PRKCB_ENST00000303531.7_Missense_Mutation_p.T314A	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	314					apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	CAGTCAGGGAACCAAGGTCCC	0.473																																						ENST00000303531.7																			0				central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9						c.(940-942)Acc>Gcc		protein kinase C, beta	Vitamin E(DB00163)						106.0	98.0	101.0					16																	24135177		2197	4300	6497	SO:0001583	missense	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:24135177A>G	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.940A>G	16.37:g.24135177A>G	ENSP00000318315:p.Thr314Ala					PRKCB_ENST00000321728.7_Missense_Mutation_p.T314A	p.T314A	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN			9	1092	+			314					C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	c.940A>G	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	A	0.015	-1.567410	0.00895	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.70516	-0.48;-0.49	4.92	1.19	0.21007	.	0.260092	0.34853	N	0.003623	T	0.29652	0.0740	N	0.00707	-1.245	0.24931	N	0.991918	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.002	T	0.34104	-0.9842	10	0.07990	T	0.79	.	5.7611	0.18201	0.4454:0.2836:0.0:0.271	.	314;314	P05771-2;P05771	.;KPCB_HUMAN	A	314	ENSP00000318315:T314A;ENSP00000305355:T314A	ENSP00000305355:T314A	T	+	1	0	PRKCB	24042678	0.359000	0.24955	0.166000	0.22797	0.091000	0.18340	0.667000	0.25112	0.009000	0.14813	0.460000	0.39030	ACC		0.473	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		31	9	0	0	0	1	0	31	9				
SYT11	23208	broad.mit.edu	37	1	155837976	155837976	+	Silent	SNP	T	T	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:155837976T>G	ENST00000368324.4	+	2	508	c.255T>G	c.(253-255)ccT>ccG	p.P85P	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	85					negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			AAGATGGTCCTGGGAGGGAAG	0.512																																						ENST00000368324.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(253-255)ccT>ccG		synaptotagmin XI							135.0	124.0	128.0					1																	155837976		2203	4300	6503	SO:0001819	synonymous_variant	23208					cell junction|synaptic vesicle membrane	protein binding|transporter activity	g.chr1:155837976T>G	D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"""Synaptotagmins"""	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.255T>G	1.37:g.155837976T>G						SYT11_ENST00000539162.1_Intron	p.P85P	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.000162)		2	508	+	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		85					Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Silent	SNP	ENST00000368324.4	37	c.255T>G	CCDS1122.1																																																																																				0.512	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039597.1	NM_152280		35	48	0	0	0	1	0	35	48				
TRIM38	10475	broad.mit.edu	37	6	25983800	25983800	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:25983800G>T	ENST00000357085.3	+	8	1759	c.1283G>T	c.(1282-1284)gGg>gTg	p.G428V	TRIM38_ENST00000349458.3_Missense_Mutation_p.G428V|U91328.21_ENST00000608931.1_RNA	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	428	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of defense response to virus (GO:0050687)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of viral entry into host cell (GO:0046598)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of interferon-beta production (GO:0032648)|signal transduction (GO:0007165)	intracellular (GO:0005622)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						TTTTATAACGGGAATACTGGC	0.473																																						ENST00000357085.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						c.(1282-1284)gGg>gTg		tripartite motif containing 38							78.0	76.0	77.0					6																	25983800		2203	4300	6503	SO:0001583	missense	10475				positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding	g.chr6:25983800G>T	U90547	CCDS4568.1	6p21.3	2011-04-20	2011-01-25	2002-06-07	ENSG00000112343	ENSG00000112343		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10059	protein-coding gene	gene with protein product			"""ring finger protein 15"", ""tripartite motif-containing 38"""	RNF15			Standard	XR_241880		Approved	RORET	uc003nfm.4	O00635	OTTHUMG00000014414	ENST00000357085.3:c.1283G>T	6.37:g.25983800G>T	ENSP00000349596:p.Gly428Val					TRIM38_ENST00000349458.3_Missense_Mutation_p.G428V	p.G428V	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN			8	1759	+			428			B30.2/SPRY.		B2R862	Missense_Mutation	SNP	ENST00000357085.3	37	c.1283G>T	CCDS4568.1	.	.	.	.	.	.	.	.	.	.	g	0.122	-1.124937	0.01770	.	.	ENSG00000112343	ENST00000540262;ENST00000349458;ENST00000357085	T;T;T	0.68765	-0.35;-0.35;-0.35	4.24	0.547	0.17202	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	1.180580	0.06087	N	0.662902	T	0.07234	0.0183	N	0.00368	-1.59	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.003	T	0.27365	-1.0076	10	0.02654	T	1	.	4.3389	0.11099	0.0:0.1922:0.3751:0.4327	.	428;428	B2R862;O00635	.;TRI38_HUMAN	V	428	ENSP00000443976:G428V;ENSP00000230099:G428V;ENSP00000349596:G428V	ENSP00000230099:G428V	G	+	2	0	TRIM38	26091779	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.589000	0.23939	0.090000	0.17273	-0.271000	0.10264	GGG		0.473	TRIM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040076.2			25	52	1	0	1.85244e-09	1	2.2717e-09	25	52				
MKL2	57496	broad.mit.edu	37	16	14341304	14341304	+	Silent	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr16:14341304G>T	ENST00000341243.5	+	10	2154	c.2154G>T	c.(2152-2154)gtG>gtT	p.V718V	MKL2_ENST00000574045.1_Intron|MKL2_ENST00000318282.5_Intron|MKL2_ENST00000571589.1_Silent_p.V729V			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	718	Gln-rich.				blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGCTCCCAGTGTCCATCCAGG	0.557																																						ENST00000571589.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2185-2187)gtG>gtT		MKL/myocardin-like 2																																				SO:0001819	synonymous_variant	57496				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	g.chr16:14341304G>T	AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.2154G>T	16.37:g.14341304G>T						MKL2_ENST00000318282.5_Intron|MKL2_ENST00000341243.5_Silent_p.V718V|MKL2_ENST00000574045.1_Intron	p.V729V	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN			12	2359	+			718			Gln-rich.		A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Silent	SNP	ENST00000341243.5	37	c.2187G>T																																																																																					0.557	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048		6	6	1	0	0.00116845	1	0.0012509	6	6				
LAMA4	3910	broad.mit.edu	37	6	112462049	112462049	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:112462049C>A	ENST00000230538.7	-	22	3286	c.2889G>T	c.(2887-2889)aaG>aaT	p.K963N	LAMA4_ENST00000424408.2_Missense_Mutation_p.K956N|LAMA4_ENST00000522006.1_Missense_Mutation_p.K956N|LAMA4_ENST00000389463.4_Missense_Mutation_p.K956N	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	963	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AAAATTCCCCCTTTTTAATGA	0.438																																						ENST00000230538.7																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(2887-2889)aaG>aaT		laminin, alpha 4							105.0	101.0	103.0					6																	112462049		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112462049C>A		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.2889G>T	6.37:g.112462049C>A	ENSP00000230538:p.Lys963Asn					LAMA4_ENST00000389463.4_Missense_Mutation_p.K956N|LAMA4_ENST00000424408.2_Missense_Mutation_p.K956N|LAMA4_ENST00000522006.1_Missense_Mutation_p.K956N	p.K963N	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	22	3286	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	963			Laminin G-like 1.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.2889G>T	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.381576	0.61845	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.81	3.72	0.42706	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.095466	0.64402	D	0.000002	T	0.31327	0.0793	L	0.34521	1.04	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.67900	0.954;0.923	T	0.10177	-1.0641	10	0.08381	T	0.77	.	12.3777	0.55289	0.0:0.7935:0.0:0.2065	.	963;956	Q16363;Q16363-2	LAMA4_HUMAN;.	N	963;956;956;956	ENSP00000230538:K963N;ENSP00000429488:K956N;ENSP00000374114:K956N;ENSP00000416470:K956N	ENSP00000230538:K963N	K	-	3	2	LAMA4	112568742	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	1.185000	0.32065	1.467000	0.48044	0.650000	0.86243	AAG		0.438	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		22	32	1	0	6.44725e-10	1	7.98017e-10	22	32				
ANO1	55107	broad.mit.edu	37	11	69949232	69949232	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:69949232G>C	ENST00000355303.5	+	3	807	c.502G>C	c.(502-504)Gag>Cag	p.E168Q	ANO1_ENST00000538023.1_Missense_Mutation_p.E168Q|ANO1_ENST00000530676.1_Missense_Mutation_p.E52Q|ANO1_ENST00000398543.2_Missense_Mutation_p.E52Q|ANO1_ENST00000316296.5_Missense_Mutation_p.E140Q	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	168					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	GCTGTGCAGAGAGGCCGAGTT	0.537																																						ENST00000355303.5																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						c.(502-504)Gag>Cag		anoctamin 1, calcium activated chloride channel							82.0	90.0	87.0					11																	69949232		2034	4167	6201	SO:0001583	missense	55107				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	g.chr11:69949232G>C	BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.502G>C	11.37:g.69949232G>C	ENSP00000347454:p.Glu168Gln					ANO1_ENST00000530676.1_Missense_Mutation_p.E52Q|ANO1_ENST00000538023.1_Missense_Mutation_p.E168Q|ANO1_ENST00000398543.2_Missense_Mutation_p.E52Q|ANO1_ENST00000316296.5_Missense_Mutation_p.E140Q	p.E168Q	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN			3	807	+			168					A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	ENST00000355303.5	37	c.502G>C	CCDS44663.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.36|17.36	3.369617|3.369617	0.61624|0.61624	.|.	.|.	ENSG00000131620|ENSG00000131620	ENST00000530480|ENST00000355303;ENST00000538023;ENST00000398543;ENST00000316296;ENST00000530676	.|T;T;T;T;T	.|0.67171	.|-0.25;-0.25;-0.25;-0.25;-0.25	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.78130|0.78130	0.4235|0.4235	L|L	0.51422|0.51422	1.61|1.61	0.58432|0.58432	D|D	0.999993|0.999993	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.85130	.|0.997;0.994	T|T	0.76564|0.76564	-0.2913|-0.2913	6|9	.|.	.|.	.|.	.|.	17.9172|17.9172	0.88955|0.88955	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|140;168	.|Q5XXA6-3;Q5XXA6	.|.;ANO1_HUMAN	D|Q	10|168;168;52;140;52	.|ENSP00000347454:E168Q;ENSP00000444689:E168Q;ENSP00000381551:E52Q;ENSP00000319477:E140Q;ENSP00000435797:E52Q	.|.	E|E	+|+	3|1	2|0	ANO1|ANO1	69626880|69626880	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.301000|0.301000	0.27625|0.27625	8.978000|8.978000	0.93450|0.93450	2.474000|2.474000	0.83562|0.83562	0.650000|0.650000	0.86243|0.86243	GAG|GAG		0.537	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043		10	9	0	0	0	1	0	10	9				
UNC79	57578	broad.mit.edu	37	14	94044259	94044259	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr14:94044259G>C	ENST00000393151.2	+	18	2283	c.2283G>C	c.(2281-2283)caG>caC	p.Q761H	UNC79_ENST00000256339.4_Missense_Mutation_p.Q584H|UNC79_ENST00000555664.1_Missense_Mutation_p.Q761H|UNC79_ENST00000553484.1_Missense_Mutation_p.Q761H			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	761					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GTCCTTTCCAGAGTCCGTTTC	0.453																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(2281-2283)caG>caC		unc-79 homolog (C. elegans)							262.0	237.0	245.0					14																	94044259		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94044259G>C	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.2283G>C	14.37:g.94044259G>C	ENSP00000376858:p.Gln761His					UNC79_ENST00000393151.2_Missense_Mutation_p.Q761H|UNC79_ENST00000555664.1_Missense_Mutation_p.Q761H|UNC79_ENST00000256339.4_Missense_Mutation_p.Q584H	p.Q761H			Q9P2D8	UNC79_HUMAN			18	2437	+			761					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.2283G>C		.	.	.	.	.	.	.	.	.	.	G	12.28	1.890203	0.33348	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.18810	2.2;2.2;2.19;2.2	5.22	4.32	0.51571	.	0.141893	0.48286	D	0.000187	T	0.14013	0.0339	L	0.34521	1.04	0.33691	D	0.613282	B	0.06786	0.001	B	0.08055	0.003	T	0.09100	-1.0690	10	0.29301	T	0.29	-11.1158	7.23	0.26036	0.1472:0.1405:0.7123:0.0	.	761	C9JQL1	.	H	584;761;761;761;761	ENSP00000256339:Q584H;ENSP00000450868:Q761H;ENSP00000451360:Q761H;ENSP00000376858:Q761H	ENSP00000256339:Q584H	Q	+	3	2	KIAA1409	93114012	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.688000	0.46984	2.444000	0.82710	0.650000	0.86243	CAG		0.453	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		6	234	0	0	0	1	0	6	234				
HSPA4	3308	broad.mit.edu	37	5	132412462	132412462	+	Silent	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr5:132412462C>T	ENST00000304858.2	+	7	1069	c.780C>T	c.(778-780)atC>atT	p.I260I	HSPA4_ENST00000504328.1_3'UTR	NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	260					chaperone-mediated protein complex assembly (GO:0051131)|protein import into mitochondrial outer membrane (GO:0045040)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGTCCAAAATCCGTGCATTAT	0.368																																					Colon(114;1299 1588 6063 12302 48757)	ENST00000304858.2																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32						c.(778-780)atC>atT		heat shock 70kDa protein 4							121.0	122.0	122.0					5																	132412462		2203	4300	6503	SO:0001819	synonymous_variant	3308				cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding	g.chr5:132412462C>T	AB023420	CCDS4166.1	5q31.1	2011-09-07	2002-08-29		ENSG00000170606	ENSG00000170606		"""Heat shock proteins / HSP70"""	5237	protein-coding gene	gene with protein product	"""hsp70 RY"""	601113	"""heat shock 70kD protein 4"""			8335910	Standard	NM_002154		Approved	HS24/P52, HSPH2	uc003kyj.3	P34932	OTTHUMG00000129012	ENST00000304858.2:c.780C>T	5.37:g.132412462C>T						HSPA4_ENST00000504328.1_3'UTR	p.I260I	NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		7	1069	+			260					O95756|Q2TAL4|Q9BUK9	Silent	SNP	ENST00000304858.2	37	c.780C>T	CCDS4166.1																																																																																				0.368	HSPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251011.1	NM_002154, NM_198431		21	16	0	0	0	1	0	21	16				
FMOD	2331	broad.mit.edu	37	1	203316799	203316799	+	Silent	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:203316799C>T	ENST00000354955.4	-	2	1063	c.600G>A	c.(598-600)gaG>gaA	p.E200E	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	200					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			CCGTGAGGTTCTCCAGCCCCT	0.587																																						ENST00000354955.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17						c.(598-600)gaG>gaA		fibromodulin							116.0	117.0	117.0					1																	203316799		2203	4300	6503	SO:0001819	synonymous_variant	2331				transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix		g.chr1:203316799C>T	U05291	CCDS30976.1	1q32	2008-02-05			ENSG00000122176	ENSG00000122176		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3774	protein-coding gene	gene with protein product	"""fibromodulin proteoglycan"""	600245				7851907	Standard	NM_002023		Approved	SLRR2E	uc001gzr.3	Q06828	OTTHUMG00000035910	ENST00000354955.4:c.600G>A	1.37:g.203316799C>T						FMOD_ENST00000464898.1_5'UTR	p.E200E	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.171)		2	1063	-			200					Q15331|Q8IV47	Silent	SNP	ENST00000354955.4	37	c.600G>A	CCDS30976.1	.	.	.	.	.	.	.	.	.	.	C	7.666	0.685927	0.14973	.	.	ENSG00000122176	ENST00000539467	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	T	0.76933	0.4057	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.80185	-0.1487	5	0.87932	D	0	-27.8224	17.2771	0.87119	0.0:1.0:0.0:0.0	.	.	.	.	K	179	.	ENSP00000438680:R179K	R	-	2	0	FMOD	201583422	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.028000	0.64115	2.414000	0.81942	0.655000	0.94253	AGA		0.587	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087472.1	NM_002023		30	90	0	0	0	1	0	30	90				
FMN2	56776	broad.mit.edu	37	1	240492374	240492374	+	Splice_Site	SNP	A	A	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:240492374A>T	ENST00000319653.9	+	9	4445		c.e9-1		FMN2_ENST00000545751.1_Splice_Site	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2						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)			TTGTTTTTCTAGAGAGCACAG	0.368																																						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.e9-1		formin 2							61.0	62.0	62.0					1																	240492374		2203	4300	6503	SO:0001630	splice_region_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.chr1:240492374A>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.4216-1A>T	1.37:g.240492374A>T						FMN2_ENST00000545751.1_Splice_Site		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		9	4445	+	Ovarian(103;0.127)	all_cancers(173;0.013)						B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Splice_Site	SNP	ENST00000319653.9	37		CCDS31069.2	.	.	.	.	.	.	.	.	.	.	A	23.4	4.414093	0.83449	.	.	ENSG00000155816	ENST00000319653;ENST00000441342;ENST00000545751;ENST00000537355	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2189	0.73296	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FMN2	238558997	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	9.288000	0.96055	1.987000	0.57996	0.460000	0.39030	.		0.368	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352	Intron	17	23	0	0	0	1	0	17	23				
DIP2C	22982	broad.mit.edu	37	10	323371	323371	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr10:323371A>T	ENST00000280886.6	-	37	4652	c.4565T>A	c.(4564-4566)aTc>aAc	p.I1522N	AL603831.1_ENST00000579524.1_RNA	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1522						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GATGACGCCGATGTCCACCAC	0.592																																						ENST00000280886.6																			0				breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(4564-4566)aTc>aAc		DIP2 disco-interacting protein 2 homolog C (Drosophila)							153.0	120.0	131.0					10																	323371		2203	4300	6503	SO:0001583	missense	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:323371A>T	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.4565T>A	10.37:g.323371A>T	ENSP00000280886:p.Ile1522Asn						p.I1522N	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	37	4652	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	1522					B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	c.4565T>A	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	A	13.96	2.393027	0.42410	.	.	ENSG00000151240	ENST00000280886;ENST00000535541	T	0.21361	2.01	6.04	4.91	0.64330	.	0.111376	0.64402	D	0.000011	T	0.15003	0.0362	N	0.14661	0.345	0.80722	D	1	B	0.22276	0.067	B	0.28465	0.09	T	0.05068	-1.0908	10	0.66056	D	0.02	-25.5507	12.087	0.53702	0.9333:0.0:0.0667:0.0	.	1522	Q9Y2E4	DIP2C_HUMAN	N	1522;447	ENSP00000280886:I1522N	ENSP00000280886:I1522N	I	-	2	0	DIP2C	313371	1.000000	0.71417	0.986000	0.45419	0.778000	0.44026	5.407000	0.66363	1.113000	0.41760	0.459000	0.35465	ATC		0.592	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		21	17	0	0	0	1	0	21	17				
ANKLE1	126549	broad.mit.edu	37	19	17394588	17394588	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:17394588G>C	ENST00000394458.3	+	5	1291	c.1015G>C	c.(1015-1017)Gat>Cat	p.D339H	ANKLE1_ENST00000404085.1_Missense_Mutation_p.D361H|ANKLE1_ENST00000598347.1_Missense_Mutation_p.D339H|ANKLE1_ENST00000594072.1_Missense_Mutation_p.D328H|ANKLE1_ENST00000433424.2_Missense_Mutation_p.D393H	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	339										large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						GCTGACAGAGGATGAGGCAAG	0.612																																						ENST00000394458.3																			0				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						c.(1015-1017)Gat>Cat		ankyrin repeat and LEM domain containing 1							76.0	70.0	72.0					19																	17394588		2203	4300	6503	SO:0001583	missense	126549					nuclear envelope		g.chr19:17394588G>C	AK096688	CCDS12354.2, CCDS12354.3	19p13.11	2013-01-10	2008-03-25	2008-03-25	ENSG00000160117	ENSG00000160117		"""Ankyrin repeat domain containing"""	26812	protein-coding gene	gene with protein product	"""LEM domain containing 6"""		"""ankyrin repeat domain 41"""	ANKRD41			Standard	NM_152363		Approved	FLJ39369, LEMD6	uc002nga.2	Q8NAG6	OTTHUMG00000150839	ENST00000394458.3:c.1015G>C	19.37:g.17394588G>C	ENSP00000377971:p.Asp339His					ANKLE1_ENST00000594072.1_Missense_Mutation_p.D328H|ANKLE1_ENST00000433424.2_Missense_Mutation_p.D393H|ANKLE1_ENST00000598347.1_Missense_Mutation_p.D339H|ANKLE1_ENST00000404085.1_Missense_Mutation_p.D361H	p.D339H	NM_152363.4	NP_689576.4	Q8NAG6	ANKL1_HUMAN			5	1291	+			339					A8VU82|Q8N8J8	Missense_Mutation	SNP	ENST00000394458.3	37	c.1015G>C	CCDS12354.2	.	.	.	.	.	.	.	.	.	.	G	14.67	2.603553	0.46423	.	.	ENSG00000160117	ENST00000404261;ENST00000433424;ENST00000404085;ENST00000394458;ENST00000438921	T;T;T;T	0.74737	-0.75;-0.87;-0.82;-0.76	4.18	1.87	0.25490	.	2.452770	0.02092	N	0.053209	T	0.77032	0.4071	L	0.27053	0.805	0.09310	N	1	D;D;D;B	0.76494	0.996;0.999;0.999;0.24	P;D;D;B	0.66847	0.894;0.947;0.936;0.046	T	0.63470	-0.6630	10	0.54805	T	0.06	-1.7597	5.0922	0.14713	0.1163:0.2149:0.6688:0.0	.	339;325;339;328	E7ETZ9;Q8NAG6-1;Q8NAG6;A0JLW0	.;.;ANKL1_HUMAN;.	H	339;393;361;328;339	ENSP00000384753:D339H;ENSP00000394460:D393H;ENSP00000384008:D361H;ENSP00000377971:D328H	ENSP00000377971:D328H	D	+	1	0	ANKLE1	17255588	0.859000	0.29813	0.066000	0.19879	0.267000	0.26476	0.174000	0.16743	1.109000	0.41680	0.313000	0.20887	GAT		0.612	ANKLE1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325392.2	NM_152363		29	48	0	0	0	1	0	29	48				
RIN3	79890	broad.mit.edu	37	14	93081801	93081801	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr14:93081801G>C	ENST00000216487.7	+	4	576	c.417G>C	c.(415-417)ttG>ttC	p.L139F	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	139	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				TCTTCAGATTGATTGCGTTCT	0.537																																						ENST00000216487.7																			0				endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(415-417)ttG>ttC		Ras and Rab interactor 3							214.0	182.0	193.0					14																	93081801		2203	4300	6503	SO:0001583	missense	79890				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	g.chr14:93081801G>C	BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.417G>C	14.37:g.93081801G>C	ENSP00000216487:p.Leu139Phe					RIN3_ENST00000418924.2_3'UTR	p.L139F	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN			4	576	+		all_cancers(154;0.0701)	139			SH2.		Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Missense_Mutation	SNP	ENST00000216487.7	37	c.417G>C	CCDS32144.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.254271	0.39896	.	.	ENSG00000100599	ENST00000216487;ENST00000428147	T	0.62788	-0.0	5.7	4.81	0.61882	SH2 motif (3);	0.000000	0.64402	D	0.000006	T	0.81269	0.4787	M	0.87971	2.92	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.996	D	0.84868	0.0823	10	0.87932	D	0	-17.8713	14.1867	0.65609	0.0:0.1495:0.8505:0.0	.	64;139	Q6ZRC2;Q8TB24	.;RIN3_HUMAN	F	139	ENSP00000216487:L139F	ENSP00000216487:L139F	L	+	3	2	RIN3	92151554	1.000000	0.71417	0.973000	0.42090	0.463000	0.32649	1.949000	0.40313	1.410000	0.46936	0.655000	0.94253	TTG		0.537	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1			38	103	0	0	0	1	0	38	103				
CSMD3	114788	broad.mit.edu	37	8	113668483	113668483	+	Silent	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr8:113668483G>T	ENST00000297405.5	-	18	3148	c.2904C>A	c.(2902-2904)acC>acA	p.T968T	CSMD3_ENST00000455883.2_Silent_p.T864T|CSMD3_ENST00000352409.3_Silent_p.T968T|CSMD3_ENST00000343508.3_Silent_p.T928T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	968	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGGGCACTTGGGTGCCATTGT	0.358										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.(2902-2904)acC>acA		CUB and Sushi multiple domains 3							71.0	78.0	76.0					8																	113668483		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113668483G>T	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.2904C>A	8.37:g.113668483G>T		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Silent_p.T968T|CSMD3_ENST00000455883.2_Silent_p.T864T|CSMD3_ENST00000343508.3_Silent_p.T928T	p.T968T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			18	3148	-			968			CUB 5.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.2904C>A	CCDS6315.1																																																																																				0.358	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		15	44	1	0	2.32078e-09	1	2.82646e-09	15	44				
SLC35G3	146861	broad.mit.edu	37	17	33520477	33520477	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:33520477C>T	ENST00000297307.5	-	1	935	c.850G>A	c.(850-852)Gct>Act	p.A284T	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	284	EamA 2.					integral component of membrane (GO:0016021)		p.A284T(1)									TGTAGGACAGCGCACACCAGG	0.582																																						ENST00000297307.5																			1	Substitution - Missense(1)	p.A284T(1)	endometrium(1)								c.(850-852)Gct>Act		solute carrier family 35, member G3							195.0	174.0	181.0					17																	33520477		2203	4300	6503	SO:0001583	missense	146861					integral to membrane		g.chr17:33520477C>T	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.850G>A	17.37:g.33520477C>T	ENSP00000297307:p.Ala284Thr						p.A284T	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	935	-			284			DUF6 2.		B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	c.850G>A	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	C	0.836	-0.743441	0.03088	.	.	ENSG00000164729	ENST00000297307	T	0.51574	0.7	.	.	.	.	0.152670	0.29646	N	0.011563	T	0.14874	0.0359	N	0.03608	-0.345	0.36078	D	0.842595	B	0.18863	0.031	B	0.14578	0.011	T	0.28996	-1.0026	9	0.02654	T	1	-5.1208	2.6646	0.05037	0.0:0.5037:0.0:0.4962	.	284	Q8N808	S35G3_HUMAN	T	284	ENSP00000297307:A284T	ENSP00000297307:A284T	A	-	1	0	SLC35G3	30544590	0.999000	0.42202	0.129000	0.21949	0.129000	0.20672	0.155000	0.16362	0.064000	0.16427	0.064000	0.15345	GCT		0.582	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		62	85	0	0	0	1	0	62	85				
KANSL3	55683	broad.mit.edu	37	2	97276534	97276534	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:97276534C>G	ENST00000431828.1	-	11	1324	c.1248G>C	c.(1246-1248)atG>atC	p.M416I	KANSL3_ENST00000599854.1_Missense_Mutation_p.M329I|KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000440133.1_Missense_Mutation_p.M210I|KANSL3_ENST00000441706.2_Missense_Mutation_p.M329I			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3	416					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											GGAAGTCCTCCATGGCTTCAG	0.498																																						ENST00000599854.1																			0											c.(985-987)atG>atC		KAT8 regulatory NSL complex subunit 3							138.0	133.0	134.0					2																	97276534		1894	4119	6013	SO:0001583	missense	55683							g.chr2:97276534C>G	BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982			25473	protein-coding gene	gene with protein product			"""KIAA1310"""	KIAA1310			Standard	NM_001115016		Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.1248G>C	2.37:g.97276534C>G	ENSP00000396749:p.Met416Ile					KANSL3_ENST00000431828.1_Missense_Mutation_p.M416I|KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000440133.1_Missense_Mutation_p.M210I|KANSL3_ENST00000441706.2_Missense_Mutation_p.M329I	p.M329I	NM_001115016.2	NP_001108488.1	Q9P2N6	K1310_HUMAN			11	1454	-			416					A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	Missense_Mutation	SNP	ENST00000431828.1	37	c.987G>C	CCDS46361.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.239833	0.58995	.	.	ENSG00000114982	ENST00000354204;ENST00000447759;ENST00000431828;ENST00000441706;ENST00000440133;ENST00000444759;ENST00000452268	T;T;T	0.20881	2.04;2.04;2.04	6.03	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.17831	0.0428	N	0.22421	0.69	0.80722	D	1	B;B;B;B	0.30326	0.276;0.02;0.234;0.041	B;B;B;B	0.36186	0.219;0.007;0.14;0.016	T	0.07290	-1.0780	10	0.35671	T	0.21	.	13.3054	0.60349	0.0:0.9237:0.0:0.0763	.	210;416;329;304	B4E1W4;Q9P2N6-3;Q9P2N6-5;Q9P2N6-6	.;.;.;.	I	329;304;416;329;210;210;329	ENSP00000396749:M416I;ENSP00000400678:M329I;ENSP00000406207:M210I	ENSP00000346144:M329I	M	-	3	0	KIAA1310	96640261	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.652000	0.83633	1.564000	0.49628	0.557000	0.71058	ATG		0.498	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339040.2	NM_017991		40	71	0	0	0	1	0	40	71				
ABCA5	23461	broad.mit.edu	37	17	67256516	67256516	+	Missense_Mutation	SNP	T	T	A	rs141602707		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:67256516T>A	ENST00000392676.3	-	27	3666	c.3602A>T	c.(3601-3603)tAt>tTt	p.Y1201F	ABCA5_ENST00000392677.2_Missense_Mutation_p.Y1202F|ABCA5_ENST00000588877.1_Missense_Mutation_p.Y1201F			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1201					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	CCATGGATTATAGGTGTCCAC	0.313																																						ENST00000392676.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54						c.(3601-3603)tAt>tTt		ATP-binding cassette, sub-family A (ABC1), member 5							88.0	80.0	83.0					17																	67256516		2202	4298	6500	SO:0001583	missense	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67256516T>A	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.3602A>T	17.37:g.67256516T>A	ENSP00000376443:p.Tyr1201Phe					ABCA5_ENST00000588877.1_Missense_Mutation_p.Y1201F|ABCA5_ENST00000392677.2_Missense_Mutation_p.Y1202F	p.Y1201F			Q8WWZ7	ABCA5_HUMAN			27	3666	-	Breast(10;3.72e-11)		1201					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	c.3602A>T	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	T	1.149	-0.647293	0.03506	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.87491	-2.26;-2.26	5.56	4.46	0.54185	.	0.120057	0.37715	N	0.001977	T	0.73048	0.3537	N	0.14661	0.345	0.27757	N	0.943955	P	0.36874	0.572	B	0.33521	0.165	T	0.63998	-0.6510	9	.	.	.	.	8.3535	0.32316	0.3156:0.0:0.0:0.6844	.	1201	Q8WWZ7	ABCA5_HUMAN	F	1202;1201	ENSP00000376444:Y1202F;ENSP00000376443:Y1201F	.	Y	-	2	0	ABCA5	64768111	0.423000	0.25482	0.009000	0.14445	0.005000	0.04900	1.370000	0.34238	0.897000	0.36392	0.533000	0.62120	TAT		0.313	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		14	10	0	0	0	1	0	14	10				
PRDM9	56979	broad.mit.edu	37	5	23510043	23510043	+	Silent	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr5:23510043C>A	ENST00000296682.3	+	4	390	c.208C>A	c.(208-210)Cga>Aga	p.R70R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	70	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.R70*(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CAGAGCCACTCGACCAGCTTT	0.483										HNSCC(3;0.000094)																												ENST00000296682.3																			1	Substitution - Nonsense(1)	p.R70*(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(208-210)Cga>Aga		PR domain containing 9							73.0	69.0	71.0					5																	23510043		1876	4114	5990	SO:0001819	synonymous_variant	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23510043C>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.208C>A	5.37:g.23510043C>A		HNSCC(3;0.000094)					p.R70R	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			4	390	+			70			KRAB-related.		B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	c.208C>A	CCDS43307.1																																																																																				0.483	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		34	22	1	0	9.8876e-21	1	1.38166e-20	34	22				
INPP5J	27124	broad.mit.edu	37	22	31521997	31521997	+	Splice_Site	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr22:31521997G>T	ENST00000331075.5	+	2	1320		c.e2+1		INPP5J_ENST00000412277.2_Splice_Site|INPP5J_ENST00000401755.1_5'Flank|INPP5J_ENST00000400294.2_Splice_Site|INPP5J_ENST00000402238.1_5'Flank|INPP5J_ENST00000405300.1_Splice_Site|INPP5J_ENST00000404453.1_5'Flank|INPP5J_ENST00000404390.3_Intron	NM_001284285.1	NP_001271214.1	Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J						inositol phosphate metabolic process (GO:0043647)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						CCGGCTTCCGGTGAGGGGGCC	0.597																																						ENST00000331075.5																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						c.e2+1		inositol polyphosphate-5-phosphatase J							41.0	44.0	43.0					22																	31521997		1860	4097	5957	SO:0001630	splice_region_variant	27124					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding	g.chr22:31521997G>T	U45975	CCDS46687.1, CCDS63453.1, CCDS63454.1, CCDS63455.1, CCDS74847.1	22q12.2	2008-09-09	2008-09-09	2008-09-09	ENSG00000185133	ENSG00000185133			8956	protein-coding gene	gene with protein product		606481	"""phosphatidylinositol (4,5) bisphosphate 5-phosphatase, A"""	PIB5PA		10591208	Standard	NM_001284287		Approved	INPP5	uc003aju.4	Q15735	OTTHUMG00000151206	ENST00000331075.5:c.1271+1G>T	22.37:g.31521997G>T						INPP5J_ENST00000405300.1_Splice_Site|INPP5J_ENST00000404390.3_Intron|INPP5J_ENST00000412277.2_Splice_Site|INPP5J_ENST00000400294.2_Splice_Site				Q15735	PI5PA_HUMAN			2	1320	+								B3KS54|Q32M61|Q6ZTH6|Q8N902|Q9UDT9	Splice_Site	SNP	ENST00000331075.5	37			.	.	.	.	.	.	.	.	.	.	G	13.60	2.285340	0.40394	.	.	ENSG00000185133	ENST00000331075;ENST00000412277;ENST00000400294;ENST00000405300	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6772	0.68989	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	INPP5J	29851997	1.000000	0.71417	1.000000	0.80357	0.540000	0.34992	3.449000	0.52950	2.319000	0.78375	0.462000	0.41574	.		0.597	INPP5J-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000321784.1	NM_001002837	Intron	4	9	1	0	0.014758	1	0.0153959	4	9				
BRINP3	339479	broad.mit.edu	37	1	190068141	190068141	+	Silent	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:190068141G>C	ENST00000367462.3	-	8	1539	c.1308C>G	c.(1306-1308)acC>acG	p.T436T	BRINP3_ENST00000534846.1_Silent_p.T334T	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	436					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.T436T(1)									GCAGGAACGCGGTGCAGACCA	0.602																																						ENST00000367462.3																			1	Substitution - coding silent(1)	p.T436T(1)	lung(1)	NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164						c.(1306-1308)acC>acG									58.0	46.0	50.0					1																	190068141		2203	4300	6503	SO:0001819	synonymous_variant	339479					extracellular region		g.chr1:190068141G>C	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1308C>G	1.37:g.190068141G>C						FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Silent_p.T334T	p.T436T	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN			8	1539	-	Prostate(682;0.198)		436					B3KVP1|B7Z260|O95726|Q2M330	Silent	SNP	ENST00000367462.3	37	c.1308C>G	CCDS1373.1																																																																																				0.602	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		11	23	0	0	0	1	0	11	23				
KCNK2	3776	broad.mit.edu	37	1	215345468	215345468	+	Silent	SNP	C	C	T	rs371463693		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:215345468C>T	ENST00000444842.2	+	5	915	c.765C>T	c.(763-765)gaC>gaT	p.D255D	KCNK2_ENST00000391894.2_Silent_p.D240D|KCNK2_ENST00000391895.2_Silent_p.D251D	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	255					G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	GTGCCCTGGACGCCATTTATT	0.423																																						ENST00000444842.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30						c.(763-765)gaC>gaT		potassium channel, subfamily K, member 2	Dofetilide(DB00204)						175.0	145.0	155.0					1																	215345468		2203	4300	6503	SO:0001819	synonymous_variant	3776						outward rectifier potassium channel activity	g.chr1:215345468C>T	AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6277	protein-coding gene	gene with protein product		603219				9721223, 16382106	Standard	NM_001017424		Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.765C>T	1.37:g.215345468C>T						KCNK2_ENST00000391894.2_Silent_p.D240D|KCNK2_ENST00000391895.2_Silent_p.D251D	p.D255D	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	5	915	+			255					A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Silent	SNP	ENST00000444842.2	37	c.765C>T	CCDS41467.1																																																																																				0.423	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089856.2	NM_014217		20	47	0	0	0	1	0	20	47				
OSGIN1	29948	broad.mit.edu	37	16	83983096	83983096	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr16:83983096G>A	ENST00000343939.2	+	1	425	c.42G>A	c.(40-42)atG>atA	p.M14I	RP11-505K9.4_ENST00000561562.1_3'UTR|RP11-505K9.4_ENST00000566309.1_3'UTR|OSGIN1_ENST00000361711.3_5'UTR			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	14					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)		growth factor activity (GO:0008083)			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						GGGGAAATATGCAGTGCAGAC	0.572																																						ENST00000343939.2																			0				autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(40-42)atG>atA		oxidative stress induced growth inhibitor 1							102.0	79.0	87.0					16																	83983096		2201	4300	6501	SO:0001583	missense	29948				cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity	g.chr16:83983096G>A	AY258066	CCDS10939.1	16q23.3	2010-11-23			ENSG00000140961	ENSG00000140961			30093	protein-coding gene	gene with protein product	"""bone marrow stromal cell-derived growth inhibitor"", ""pregnancy induced growth inhibitor"""	607975				11459809, 14570898	Standard	NM_182981		Approved	BDGI, OKL38	uc002fhc.3	Q9UJX0	OTTHUMG00000137640	ENST00000343939.2:c.42G>A	16.37:g.83983096G>A	ENSP00000343376:p.Met14Ile					OSGIN1_ENST00000361711.3_5'UTR|RP11-505K9.4_ENST00000561562.1_RNA	p.M14I			Q9UJX0	OSGI1_HUMAN			1	425	+			14					Q52M33|Q86UQ1|Q96S88|Q9BZ70	Missense_Mutation	SNP	ENST00000343939.2	37	c.42G>A		.	.	.	.	.	.	.	.	.	.	G	10.67	1.415840	0.25552	.	.	ENSG00000140961	ENST00000343939	T	0.09255	3.0	3.49	-0.907	0.10521	.	.	.	.	.	T	0.05181	0.0138	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37798	-0.9690	9	0.87932	D	0	.	6.2916	0.21063	0.4895:0.0:0.5105:0.0	.	14	Q9UJX0	OSGI1_HUMAN	I	14	ENSP00000343376:M14I	ENSP00000343376:M14I	M	+	3	0	OSGIN1	82540597	0.003000	0.15002	0.000000	0.03702	0.002000	0.02628	0.441000	0.21611	-0.014000	0.14175	-0.251000	0.11542	ATG		0.572	OSGIN1-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000269081.1	NM_013370		20	39	0	0	0	1	0	20	39				
REV3L	5980	broad.mit.edu	37	6	111695668	111695668	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:111695668G>A	ENST00000358835.3	-	14	4344	c.3890C>T	c.(3889-3891)tCt>tTt	p.S1297F	REV3L_ENST00000435970.1_Missense_Mutation_p.S1219F|REV3L_ENST00000368802.3_Missense_Mutation_p.S1297F|REV3L_ENST00000368805.1_Missense_Mutation_p.S1297F			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1297					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TAAGAAAGAAGAAAAGCAGCC	0.423								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(3655-3657)tCt>tTt	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							67.0	69.0	68.0					6																	111695668		2203	4298	6501	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111695668G>A	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.3890C>T	6.37:g.111695668G>A	ENSP00000351697:p.Ser1297Phe					REV3L_ENST00000368805.1_Missense_Mutation_p.S1297F|REV3L_ENST00000358835.3_Missense_Mutation_p.S1297F|REV3L_ENST00000368802.3_Missense_Mutation_p.S1297F	p.S1219F			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	15	4472	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	1297					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.3656C>T	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	G	12.07	1.828338	0.32329	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01560	4.86;4.86;4.86;4.77	5.69	5.69	0.88448	Ribonuclease H-like (1);	0.480250	0.21999	N	0.066034	T	0.01353	0.0044	L	0.43152	1.355	0.33329	D	0.568374	B	0.33448	0.412	B	0.37833	0.259	T	0.49370	-0.8947	10	0.62326	D	0.03	.	13.1696	0.59591	0.0:0.0:0.7392:0.2608	.	1297	O60673	DPOLZ_HUMAN	F	1297;1297;1297;1219	ENSP00000357792:S1297F;ENSP00000357795:S1297F;ENSP00000351697:S1297F;ENSP00000402003:S1219F	ENSP00000351697:S1297F	S	-	2	0	REV3L	111802361	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.538000	0.45710	2.840000	0.97914	0.655000	0.94253	TCT		0.423	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		13	55	0	0	0	1	0	13	55				
APOB	338	broad.mit.edu	37	2	21231606	21231606	+	Missense_Mutation	SNP	G	G	T	rs372245645		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:21231606G>T	ENST00000233242.1	-	26	8261	c.8134C>A	c.(8134-8136)Cgt>Agt	p.R2712S		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2712					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)					TCTGGTAAACGGAAGTCTGGC	0.463																																						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.(8134-8136)Cgt>Agt		apolipoprotein B	Atorvastatin(DB01076)						156.0	159.0	158.0					2																	21231606		2203	4300	6503	SO:0001583	missense	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.chr2:21231606G>T	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.8134C>A	2.37:g.21231606G>T	ENSP00000233242:p.Arg2712Ser						p.R2712S	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	8261	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2712					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.8134C>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	0.021	-1.425902	0.01126	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00669	5.9	5.22	-1.61	0.08399	.	1.464260	0.04059	N	0.306083	T	0.00440	0.0014	N	0.08118	0	0.20074	N	0.999933	B	0.02656	0.0	B	0.04013	0.001	T	0.42816	-0.9429	10	0.06365	T	0.9	.	0.681	0.00875	0.2609:0.1127:0.2831:0.3433	.	2712	P04114	APOB_HUMAN	S	2712	ENSP00000233242:R2712S	ENSP00000233242:R2712S	R	-	1	0	APOB	21085111	0.000000	0.05858	0.019000	0.16419	0.118000	0.20060	0.235000	0.17948	-0.518000	0.06452	-0.291000	0.09656	CGT		0.463	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			44	100	1	0	3.54561e-26	1	5.07471e-26	44	100				
DMD	1756	broad.mit.edu	37	X	32536238	32536238	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chrX:32536238C>A	ENST00000357033.4	-	18	2385	c.2179G>T	c.(2179-2181)Gat>Tat	p.D727Y	DMD_ENST00000378677.2_Missense_Mutation_p.D723Y|DMD_ENST00000288447.4_Missense_Mutation_p.D719Y	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	727					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)				TCAGTTATATCAACATCCAAC	0.333																																						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.(2179-2181)Gat>Tat		dystrophin							53.0	48.0	49.0					X																	32536238		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:32536238C>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.2179G>T	X.37:g.32536238C>A	ENSP00000354923:p.Asp727Tyr					DMD_ENST00000378677.2_Missense_Mutation_p.D723Y|DMD_ENST00000288447.4_Missense_Mutation_p.D719Y	p.D727Y	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			18	2385	-		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)	727					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.2179G>T	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.973032	0.74246	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	T;T;T	0.73897	0.47;0.47;-0.79	5.14	5.14	0.70334	.	0.000000	0.32028	U	0.006691	D	0.85137	0.5628	M	0.68317	2.08	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.961;0.999	D;D;P;D	0.87578	0.998;0.917;0.801;0.95	D	0.86324	0.1694	10	0.56958	D	0.05	.	17.3034	0.87188	0.0:1.0:0.0:0.0	.	719;719;727;723	Q4G0X0;P11532-4;P11532;E9PDN5	.;.;DMD_HUMAN;.	Y	719;723;727;727;604;719	ENSP00000367948:D723Y;ENSP00000354923:D727Y;ENSP00000288447:D719Y	ENSP00000288447:D719Y	D	-	1	0	DMD	32446159	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.512000	0.67030	2.110000	0.64415	0.583000	0.79449	GAT		0.333	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		13	6	1	0	7.93312e-07	1	9.09824e-07	13	6				
OR2F1	26211	broad.mit.edu	37	7	143657796	143657796	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:143657796C>A	ENST00000392899.1	+	1	770	c.733C>A	c.(733-735)Ctc>Atc	p.L245I	RP4-669B10.3_ENST00000466281.1_lincRNA	NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	245					signal transduction (GO:0007165)	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(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					TGCCTCTCACCTCACAGTGGT	0.493																																						ENST00000392899.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34						c.(733-735)Ctc>Atc		olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)							161.0	133.0	142.0					7																	143657796		2203	4300	6503	SO:0001583	missense	26211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143657796C>A	U56421	CCDS5887.1	7q35	2013-06-03	2013-06-03		ENSG00000213215	ENSG00000213215		"""GPCR / Class A : Olfactory receptors"""	8246	protein-coding gene	gene with protein product		608497	"""olfactory receptor, family 2, subfamily F, member 1"""	OR2F4, OR2F5, OR2F3, OR2F3P		9500546	Standard	NM_012369		Approved	OLF3, OR7-140, OR7-139, OR14-60	uc003wds.1	Q13607	OTTHUMG00000157771	ENST00000392899.1:c.733C>A	7.37:g.143657796C>A	ENSP00000376633:p.Leu245Ile						p.L245I	NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN			1	770	+	Melanoma(164;0.0903)		245					A4D2G1|Q6IFP7|Q96R49|Q9UDX1	Missense_Mutation	SNP	ENST00000392899.1	37	c.733C>A	CCDS5887.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.589655	0.66105	.	.	ENSG00000213215	ENST00000392899	T	0.43294	0.95	5.53	3.69	0.42338	GPCR, rhodopsin-like superfamily (1);	0.150419	0.29212	N	0.012811	T	0.57519	0.2059	L	0.61218	1.895	0.36120	D	0.845432	D	0.76494	0.999	D	0.91635	0.999	T	0.66740	-0.5847	10	0.72032	D	0.01	-28.4237	9.0183	0.36184	0.1479:0.7733:0.0:0.0788	.	245	Q13607	OR2F1_HUMAN	I	245	ENSP00000376633:L245I	ENSP00000376633:L245I	L	+	1	0	OR2F1	143288729	0.998000	0.40836	1.000000	0.80357	0.894000	0.52154	1.447000	0.35101	1.549000	0.49425	0.655000	0.94253	CTC		0.493	OR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349581.1			24	15	1	0	1.10513e-12	1	1.43128e-12	24	15				
DMBT1	1755	broad.mit.edu	37	10	124395562	124395562	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr10:124395562A>T	ENST00000338354.3	+	50	6323	c.6217A>T	c.(6217-6219)Agt>Tgt	p.S2073C	DMBT1_ENST00000368909.3_Missense_Mutation_p.S2073C|DMBT1_ENST00000344338.3_Missense_Mutation_p.S2063C|DMBT1_ENST00000359586.6_Missense_Mutation_p.S793C|DMBT1_ENST00000368956.2_Missense_Mutation_p.S1445C|DMBT1_ENST00000368955.3_Missense_Mutation_p.S2063C|DMBT1_ENST00000330163.4_Missense_Mutation_p.S1445C			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2073	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCCCTACCGCAGTTCCCCTCT	0.498																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000338354.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(6217-6219)Agt>Tgt		deleted in malignant brain tumors 1							118.0	117.0	118.0					10																	124395562		1975	4140	6115	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124395562A>T		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.6217A>T	10.37:g.124395562A>T	ENSP00000342210:p.Ser2073Cys					DMBT1_ENST00000344338.3_Missense_Mutation_p.S2063C|DMBT1_ENST00000359586.6_Missense_Mutation_p.S793C|DMBT1_ENST00000330163.4_Missense_Mutation_p.S1445C|DMBT1_ENST00000368956.2_Missense_Mutation_p.S1445C|DMBT1_ENST00000368955.3_Missense_Mutation_p.S2063C|DMBT1_ENST00000368909.3_Missense_Mutation_p.S2073C	p.S2073C			Q9UGM3	DMBT1_HUMAN			50	6323	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	2073			CUB 2.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.6217A>T		.	.	.	.	.	.	.	.	.	.	A	8.304	0.820604	0.16678	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	T;T;T;T;T;T;T	0.20069	2.1;2.1;2.1;2.1;2.1;2.1;2.1	5.37	5.37	0.77165	CUB (5);	0.467456	0.17164	N	0.184545	T	0.42607	0.1210	M	0.71871	2.18	0.09310	N	1	D;D;D;D;D;D;D	0.89917	1.0;0.986;0.995;0.991;0.999;0.999;1.0	D;P;P;P;D;P;D	0.76071	0.987;0.85;0.874;0.894;0.947;0.891;0.961	T	0.36553	-0.9743	10	0.72032	D	0.01	.	8.2726	0.31853	0.9112:0.0:0.0888:0.0	.	793;2053;1322;2202;1445;2063;2073	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	C	2073;2202;2073;2073;2073;2072;1445;2063;1445;1445;2073;2063;1445;219;793	ENSP00000342210:S2073C;ENSP00000343175:S2063C;ENSP00000327747:S1445C;ENSP00000357905:S2073C;ENSP00000357951:S2063C;ENSP00000357952:S1445C;ENSP00000352593:S793C	ENSP00000331522:S1445C	S	+	1	0	DMBT1	124385552	0.010000	0.17322	0.031000	0.17742	0.075000	0.17131	1.695000	0.37763	2.165000	0.68154	0.456000	0.33151	AGT		0.498	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		24	10	0	0	0	1	0	24	10				
SERPINA6	866	broad.mit.edu	37	14	94776320	94776320	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr14:94776320G>T	ENST00000341584.3	-	3	783	c.637C>A	c.(637-639)Ctg>Atg	p.L213M		NM_001756.3	NP_001747	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	213					glucocorticoid metabolic process (GO:0008211)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)|steroid binding (GO:0005496)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	GTGCTTGCCAGGTCAAAGGGC	0.532																																						ENST00000341584.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26						c.(637-639)Ctg>Atg		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)						93.0	67.0	76.0					14																	94776320		2203	4300	6503	SO:0001583	missense	866				regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding	g.chr14:94776320G>T	J02943	CCDS9924.1	14q32.13	2014-02-18	2005-08-18		ENSG00000170099	ENSG00000170099		"""Serine (or cysteine) peptidase inhibitors"""	1540	protein-coding gene	gene with protein product	"""corticosteroid binding globulin"", ""transcortin"""	122500	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6"""	CBG		3299377, 7912884, 24172014	Standard	NM_001756		Approved		uc001ycv.3	P08185	OTTHUMG00000171346	ENST00000341584.3:c.637C>A	14.37:g.94776320G>T	ENSP00000342850:p.Leu213Met						p.L213M	NM_001756.3	NP_001747.2	P08185	CBG_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	3	783	-		all_cancers(154;0.0482)|all_epithelial(191;0.166)	213					A8K456|Q7Z2Q9	Missense_Mutation	SNP	ENST00000341584.3	37	c.637C>A	CCDS9924.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.978080	0.34942	.	.	ENSG00000170099	ENST00000341584	D	0.84298	-1.83	5.33	5.33	0.75918	Serpin domain (3);	0.447247	0.20955	N	0.082670	D	0.83852	0.5344	N	0.20685	0.6	0.09310	N	0.999993	P	0.45902	0.868	P	0.54431	0.752	T	0.77720	-0.2482	10	0.54805	T	0.06	.	14.8187	0.70055	0.0:0.2605:0.7395:0.0	.	213	P08185	CBG_HUMAN	M	213	ENSP00000342850:L213M	ENSP00000342850:L213M	L	-	1	2	SERPINA6	93846073	0.000000	0.05858	0.108000	0.21378	0.089000	0.18198	0.157000	0.16402	2.778000	0.95560	0.655000	0.94253	CTG		0.532	SERPINA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413065.1	NM_001756		14	28	1	0	2.61681e-11	1	3.3163e-11	14	28				
SYNE1	23345	broad.mit.edu	37	6	152469313	152469313	+	Silent	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:152469313G>A	ENST00000367255.5	-	137	25444	c.24843C>T	c.(24841-24843)atC>atT	p.I8281I	SYNE1_ENST00000448038.1_Silent_p.I8210I|SYNE1_ENST00000265368.4_Silent_p.I8281I|SYNE1_ENST00000356820.4_Silent_p.I2805I|SYNE1_ENST00000354674.4_Silent_p.I436I|SYNE1_ENST00000341594.5_Silent_p.I7893I|SYNE1_ENST00000539504.1_Silent_p.I436I|SYNE1_ENST00000423061.1_Silent_p.I8210I|SYNE1_ENST00000347037.5_5'UTR	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8281					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)		ACTCCAGGGGGATGGAGTCCA	0.597										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.(24841-24843)atC>atT		spectrin repeat containing, nuclear envelope 1							62.0	60.0	61.0					6																	152469313		2203	4300	6503	SO:0001819	synonymous_variant	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.chr6:152469313G>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.24843C>T	6.37:g.152469313G>A		HNSCC(10;0.0054)				SYNE1_ENST00000539504.1_Silent_p.I436I|SYNE1_ENST00000423061.1_Silent_p.I8210I|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000265368.4_Silent_p.I8281I|SYNE1_ENST00000356820.4_Silent_p.I2805I|SYNE1_ENST00000341594.5_Silent_p.I7893I|SYNE1_ENST00000448038.1_Silent_p.I8210I|SYNE1_ENST00000354674.4_Silent_p.I436I	p.I8281I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	137	25444	-		Ovarian(120;0.0955)	8281					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.24843C>T	CCDS5236.2																																																																																				0.597	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		19	25	0	0	0	1	0	19	25				
OR7A5	26659	broad.mit.edu	37	19	14938347	14938347	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:14938347T>G	ENST00000322301.3	-	2	794	c.707A>C	c.(706-708)aAg>aCg	p.K236T	OR7A5_ENST00000594432.1_Missense_Mutation_p.K236T|OR7A5_ENST00000601611.1_Intron			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	236					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						GGAAAATGCCTTGTACTTCCC	0.488																																						ENST00000322301.3																			0				breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(706-708)aAg>aCg		olfactory receptor, family 7, subfamily A, member 5							95.0	81.0	86.0					19																	14938347		2203	4300	6503	SO:0001583	missense	26659				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14938347T>G	X64976	CCDS12318.1	19p13.1	2012-08-09	2003-12-09			ENSG00000188269		"""GPCR / Class A : Olfactory receptors"""	8368	protein-coding gene	gene with protein product			"""olfactory receptor, family 7, subfamily A, member 5 pseudogene"""				Standard	XM_006722722		Approved	HTPCR2	uc002mzw.3	Q15622		ENST00000322301.3:c.707A>C	19.37:g.14938347T>G	ENSP00000316955:p.Lys236Thr					OR7A5_ENST00000594432.1_Missense_Mutation_p.K236T|OR7A5_ENST00000601611.1_Intron	p.K236T			Q15622	OR7A5_HUMAN			2	794	-			236					B2R682|Q6IFP1|Q96R96	Missense_Mutation	SNP	ENST00000322301.3	37	c.707A>C	CCDS12318.1	.	.	.	.	.	.	.	.	.	.	t	12.74	2.029806	0.35797	.	.	ENSG00000188269	ENST00000322301	T	0.00375	7.71	3.12	3.12	0.35913	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01421	0.0046	H	0.96015	3.755	0.33019	D	0.528575	D	0.76494	0.999	D	0.76071	0.987	T	0.02736	-1.1117	9	0.87932	D	0	.	9.7458	0.40446	0.0:0.0:0.0:1.0	.	236	Q15622	OR7A5_HUMAN	T	236	ENSP00000316955:K236T	ENSP00000316955:K236T	K	-	2	0	OR7A5	14799347	1.000000	0.71417	0.160000	0.22671	0.320000	0.28249	2.885000	0.48570	1.471000	0.48121	0.102000	0.15555	AAG		0.488	OR7A5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466518.1	NM_017506		37	50	0	0	0	1	0	37	50				
LRRC37B	114659	broad.mit.edu	37	17	30358468	30358468	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:30358468T>C	ENST00000341671.7	+	5	1972	c.1967T>C	c.(1966-1968)tTa>tCa	p.L656S	LRRC37B_ENST00000327564.7_Missense_Mutation_p.L683S|LRRC37B_ENST00000394713.3_Intron|LRRC37B_ENST00000584368.1_Intron|LRRC37B_ENST00000543378.2_Missense_Mutation_p.L574S	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	656						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				ATGCAGTTTTTACACAACTTG	0.348																																						ENST00000327564.7																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29						c.(2047-2049)tTa>tCa		leucine rich repeat containing 37B							16.0	20.0	19.0					17																	30358468		2067	4129	6196	SO:0001583	missense	114659					integral to membrane		g.chr17:30358468T>C	AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"""KIAA0563-related"""					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.1967T>C	17.37:g.30358468T>C	ENSP00000340519:p.Leu656Ser					LRRC37B_ENST00000584368.1_Intron|LRRC37B_ENST00000394713.3_Intron|LRRC37B_ENST00000341671.7_Missense_Mutation_p.L656S|LRRC37B_ENST00000543378.2_Missense_Mutation_p.L574S	p.L683S			Q96QE4	LR37B_HUMAN			5	2109	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)	656					Q17RC9|Q5YKG6	Missense_Mutation	SNP	ENST00000341671.7	37	c.2048T>C	CCDS32609.1	.	.	.	.	.	.	.	.	.	.	N	10.19	1.281289	0.23392	.	.	ENSG00000185158	ENST00000543378;ENST00000327564;ENST00000341671	T;T;T	0.81247	-1.47;-1.47;-1.47	2.36	2.36	0.29203	.	.	.	.	.	D	0.90920	0.7146	H	0.96239	3.79	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.90125	0.4202	9	0.87932	D	0	.	6.7001	0.23221	0.0:0.0:0.0:1.0	.	656	Q96QE4	LR37B_HUMAN	S	574;683;656	ENSP00000443345:L574S;ENSP00000332536:L683S;ENSP00000340519:L656S	ENSP00000332536:L683S	L	+	2	0	LRRC37B	27382581	1.000000	0.71417	0.974000	0.42286	0.145000	0.21501	3.330000	0.52068	1.333000	0.45449	0.368000	0.22195	TTA		0.348	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1	NM_052888		14	22	0	0	0	1	0	14	22				
TRAM1L1	133022	broad.mit.edu	37	4	118006200	118006200	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:118006200T>G	ENST00000310754.4	-	1	536	c.350A>C	c.(349-351)aAc>aCc	p.N117T		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	117	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						GTTAAACTTGTTTTGTTTCGC	0.368																																						ENST00000310754.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(349-351)aAc>aCc		translocation associated membrane protein 1-like 1							89.0	79.0	82.0					4																	118006200		2203	4300	6503	SO:0001583	missense	133022				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane		g.chr4:118006200T>G	AK074617	CCDS3707.1	4q26	2008-02-05			ENSG00000174599	ENSG00000174599			28371	protein-coding gene	gene with protein product						12477932	Standard	NM_152402		Approved	MGC26568	uc003ibv.4	Q8N609	OTTHUMG00000132956	ENST00000310754.4:c.350A>C	4.37:g.118006200T>G	ENSP00000309402:p.Asn117Thr						p.N117T	NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN			1	536	-			117			TLC.		Q8N2L7	Missense_Mutation	SNP	ENST00000310754.4	37	c.350A>C	CCDS3707.1	.	.	.	.	.	.	.	.	.	.	T	5.111	0.206125	0.09704	.	.	ENSG00000174599	ENST00000310754	T	0.41400	1.0	4.29	-3.5	0.04710	TRAM/LAG1/CLN8 homology domain (2);	0.118120	0.85682	N	0.000000	T	0.18964	0.0455	N	0.11064	0.09	0.30937	N	0.726269	B	0.13594	0.008	B	0.17433	0.018	T	0.06373	-1.0830	10	0.35671	T	0.21	-16.0402	9.2375	0.37475	0.0:0.6121:0.2645:0.1234	.	117	Q8N609	TR1L1_HUMAN	T	117	ENSP00000309402:N117T	ENSP00000309402:N117T	N	-	2	0	TRAM1L1	118225648	1.000000	0.71417	0.000000	0.03702	0.193000	0.23685	1.916000	0.39986	-0.728000	0.04882	-1.219000	0.01604	AAC		0.368	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256513.1	NM_152402		4	32	0	0	0	1	0	4	32				
SNTG1	54212	broad.mit.edu	37	8	51664595	51664595	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr8:51664595A>C	ENST00000522124.1	+	18	1980	c.1319A>C	c.(1318-1320)aAa>aCa	p.K440T	SNTG1_ENST00000518864.1_Missense_Mutation_p.K440T|SNTG1_ENST00000276467.5_Intron|SNTG1_ENST00000517473.1_Intron	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	440					cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TCTCAGCTTAAAGGTTCTTCA	0.348																																						ENST00000522124.1																			0				NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66						c.(1318-1320)aAa>aCa		syntrophin, gamma 1							122.0	128.0	126.0					8																	51664595		2203	4300	6503	SO:0001583	missense	54212				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	g.chr8:51664595A>C	AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.1319A>C	8.37:g.51664595A>C	ENSP00000429842:p.Lys440Thr					SNTG1_ENST00000518864.1_Missense_Mutation_p.K440T|SNTG1_ENST00000517473.1_Intron|SNTG1_ENST00000276467.5_Intron	p.K440T	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN			18	1980	+		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)	440					Q2M3Q0|Q9NY98	Missense_Mutation	SNP	ENST00000522124.1	37	c.1319A>C	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.190199	0.78789	.	.	ENSG00000147481	ENST00000518864;ENST00000522124	T;T	0.77358	-1.09;-1.09	5.09	3.89	0.44902	.	0.042206	0.85682	N	0.000000	T	0.74650	0.3744	M	0.69358	2.11	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.71731	-0.4504	10	0.87932	D	0	-28.9223	11.4316	0.50043	0.8487:0.1513:0.0:0.0	.	440	Q9NSN8	SNTG1_HUMAN	T	440	ENSP00000429276:K440T;ENSP00000429842:K440T	ENSP00000429276:K440T	K	+	2	0	SNTG1	51827148	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.671000	0.91174	0.831000	0.34780	0.467000	0.42956	AAA		0.348	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1			28	94	0	0	0	1	0	28	94				
OR4C13	283092	broad.mit.edu	37	11	49974682	49974682	+	Silent	SNP	T	T	A	rs145221317		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:49974682T>A	ENST00000555099.1	+	1	740	c.708T>A	c.(706-708)tcT>tcA	p.S236S		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						AAGCCCTCTCTACCTGTGTCT	0.463																																						ENST00000555099.1																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						c.(706-708)tcT>tcA		olfactory receptor, family 4, subfamily C, member 13							181.0	155.0	164.0					11																	49974682		2201	4296	6497	SO:0001819	synonymous_variant	283092				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:49974682T>A	AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"""GPCR / Class A : Olfactory receptors"""	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.708T>A	11.37:g.49974682T>A							p.S236S	NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN			1	740	+			236					A6NJJ3|B9EH30|Q6IF48|Q96R68	Silent	SNP	ENST00000555099.1	37	c.708T>A	CCDS31495.1																																																																																				0.463	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	NM_001001955		46	63	0	0	0	1	0	46	63				
ARHGAP26	23092	broad.mit.edu	37	5	142513555	142513555	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr5:142513555G>A	ENST00000274498.4	+	19	2100	c.1722G>A	c.(1720-1722)atG>atA	p.M574I	ARHGAP26_ENST00000378004.3_Missense_Mutation_p.M574I	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	574					actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCCCGATATGCCTCTCACCA	0.542																																						ENST00000378004.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25						c.(1720-1722)atG>atA		Rho GTPase activating protein 26							189.0	178.0	181.0					5																	142513555		2203	4300	6503	SO:0001583	missense	23092				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chr5:142513555G>A	AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"""Rho GTPase activating proteins"""	17073	protein-coding gene	gene with protein product	"""GTPase regulator associated with the focal adhesion kinase pp125"""	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.1722G>A	5.37:g.142513555G>A	ENSP00000274498:p.Met574Ile					ARHGAP26_ENST00000274498.4_Missense_Mutation_p.M574I	p.M574I	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		19	2077	+		all_hematologic(541;0.0416)	574					O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Missense_Mutation	SNP	ENST00000274498.4	37	c.1722G>A	CCDS4277.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.52|10.52	1.372232|1.372232	0.24857|0.24857	.|.	.|.	ENSG00000145819|ENSG00000145819	ENST00000443674;ENST00000418236|ENST00000274498;ENST00000378004;ENST00000418668	.|T;T	.|0.07021	.|3.23;3.27	5.95|5.95	2.72|2.72	0.32119|0.32119	.|Rho GTPase-activating protein domain (1);	.|1.769250	.|0.02339	.|N	.|0.074696	T|T	0.07818|0.07818	0.0196|0.0196	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	0.999997|0.999997	.|B;B;B	.|0.12630	.|0.001;0.006;0.0	.|B;B;B	.|0.06405	.|0.002;0.001;0.0	T|T	0.29941|0.29941	-0.9995|-0.9995	5|10	.|0.37606	.|T	.|0.19	.|.	7.5344|7.5344	0.27702|0.27702	0.2065:0.1396:0.6539:0.0|0.2065:0.1396:0.6539:0.0	.|.	.|574;147;574	.|Q9UNA1;B3KT96;Q9UNA1-2	.|RHG26_HUMAN;.;.	Y|I	193;146|574;574;147	.|ENSP00000274498:M574I;ENSP00000367243:M574I	.|ENSP00000274498:M574I	C|M	+|+	2|3	0|0	ARHGAP26|ARHGAP26	142493748|142493748	0.000000|0.000000	0.05858|0.05858	0.370000|0.370000	0.25965|0.25965	0.923000|0.923000	0.55619|0.55619	-0.160000|-0.160000	0.10041|0.10041	0.827000|0.827000	0.34685|0.34685	0.655000|0.655000	0.94253|0.94253	TGC|ATG		0.542	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132744.3	NM_015071		86	35	0	0	0	1	0	86	35				
CRISP1	167	broad.mit.edu	37	6	49819761	49819761	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:49819761C>T	ENST00000335847.4	-	3	249	c.148G>A	c.(148-150)Gcc>Acc	p.A50T	CRISP1_ENST00000355791.2_Missense_Mutation_p.A50T|CRISP1_ENST00000507853.1_Missense_Mutation_p.A50T|CRISP1_ENST00000505118.1_Missense_Mutation_p.A50T|CRISP1_ENST00000536021.1_Missense_Mutation_p.A50T|CRISP1_ENST00000329411.5_Missense_Mutation_p.A50T	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	50	SCP.				binding of sperm to zona pellucida (GO:0007339)|fusion of sperm to egg plasma membrane (GO:0007342)|regulation of acrosome reaction (GO:0060046)	extracellular space (GO:0005615)|nucleus (GO:0005634)	calcium channel regulator activity (GO:0005246)			endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					CTCCTGAGGGCGTTGTGTATA	0.378																																						ENST00000335847.4																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27						c.(148-150)Gcc>Acc		cysteine-rich secretory protein 1							197.0	185.0	189.0					6																	49819761		2203	4300	6503	SO:0001583	missense	167				fusion of sperm to egg plasma membrane	extracellular space		g.chr6:49819761C>T	D38451	CCDS4931.1, CCDS4932.1	6p21.2-p21.1	2008-02-05	2003-09-03	2003-09-05	ENSG00000124812	ENSG00000124812			304	protein-coding gene	gene with protein product		601193	"""acidic epididymal glycoprotein-like 1"""	AEGL1		8838800	Standard	NM_001131		Approved	CRISP-1, ARP, HUMARP, HSCRISP1D, HSCRISP1G	uc003ozw.2	P54107	OTTHUMG00000014827	ENST00000335847.4:c.148G>A	6.37:g.49819761C>T	ENSP00000338276:p.Ala50Thr					CRISP1_ENST00000536021.1_Missense_Mutation_p.A50T|CRISP1_ENST00000507853.1_Missense_Mutation_p.A50T|CRISP1_ENST00000505118.1_Missense_Mutation_p.A50T|CRISP1_ENST00000329411.5_Missense_Mutation_p.A50T|CRISP1_ENST00000355791.2_Missense_Mutation_p.A50T	p.A50T	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN			3	249	-	Lung NSC(77;0.0358)		50					B5BU98|O00698|Q13248|Q14082|Q96SF6	Missense_Mutation	SNP	ENST00000335847.4	37	c.148G>A	CCDS4931.1	.	.	.	.	.	.	.	.	.	.	C	7.236	0.600344	0.13939	.	.	ENSG00000124812	ENST00000507853;ENST00000335847;ENST00000355791;ENST00000329411;ENST00000505118;ENST00000536021	T;T;T;T;T;T	0.08102	3.13;3.13;3.13;3.13;3.13;3.13	5.06	-1.39	0.08997	CAP domain (3);	0.811143	0.11393	N	0.568607	T	0.01661	0.0053	L	0.31065	0.9	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.46555	-0.9183	9	.	.	.	.	8.98	0.35959	0.0:0.4824:0.0:0.5176	.	50;50	P54107-2;P54107	.;CRIS1_HUMAN	T	50	ENSP00000425020:A50T;ENSP00000338276:A50T;ENSP00000348044:A50T;ENSP00000331317:A50T;ENSP00000427589:A50T;ENSP00000441798:A50T	.	A	-	1	0	CRISP1	49927720	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.328000	0.07945	-0.104000	0.12154	-0.946000	0.02672	GCC		0.378	CRISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040875.2	NM_001131		20	41	0	0	0	1	0	20	41				
BIRC7	79444	broad.mit.edu	37	20	61870933	61870933	+	Missense_Mutation	SNP	C	C	G	rs536423363		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr20:61870933C>G	ENST00000217169.3	+	6	1087	c.873C>G	c.(871-873)agC>agG	p.S291R	MIR3196_ENST00000579556.1_RNA|NKAIN4_ENST00000466885.1_5'Flank|BIRC7_ENST00000395306.1_Missense_Mutation_p.S186R|BIRC7_ENST00000342412.6_Missense_Mutation_p.S273R	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7	291					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of natural killer cell apoptotic process (GO:0070247)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					CCGTCCGCAGCCGCGTGCGCA	0.731																																						ENST00000217169.3																			0				endometrium(1)|kidney(1)|lung(9)|ovary(1)	12						c.(871-873)agC>agG		baculoviral IAP repeat containing 7							35.0	30.0	32.0					20																	61870933		2196	4294	6490	SO:0001583	missense	79444				activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytoplasm|nucleus	enzyme binding|zinc ion binding	g.chr20:61870933C>G	AF301009	CCDS13512.1, CCDS13513.1	20q13.3	2011-01-25	2011-01-25		ENSG00000101197	ENSG00000101197		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	13702	protein-coding gene	gene with protein product	"""melanoma inhibitor of apoptosis protein"", ""kidney inhibitor of apoptosis protein"", ""livin inhibitor-of-apoptosis"", ""livin"""	605737	"""baculoviral IAP repeat-containing 7"""			11024045, 11162435	Standard	NM_139317		Approved	mliap, ML-IAP, KIAP, RNF50	uc002yej.3	Q96CA5	OTTHUMG00000032957	ENST00000217169.3:c.873C>G	20.37:g.61870933C>G	ENSP00000217169:p.Ser291Arg					BIRC7_ENST00000342412.6_Missense_Mutation_p.S273R|BIRC7_ENST00000395306.1_Missense_Mutation_p.S186R	p.S291R	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN			6	1087	+	all_cancers(38;2.72e-09)		291					Q9BQV0|Q9H2A8|Q9HAP7	Missense_Mutation	SNP	ENST00000217169.3	37	c.873C>G	CCDS13513.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.761925	0.31228	.	.	ENSG00000101197	ENST00000342412;ENST00000217169;ENST00000395306	T;T;T	0.78924	-1.22;-1.22;-1.22	4.89	3.92	0.45320	Zinc finger, RING/FYVE/PHD-type (1);	0.138613	0.34386	N	0.004015	T	0.66107	0.2756	N	0.11651	0.15	0.31365	N	0.680903	B;P	0.46220	0.08;0.874	B;P	0.48227	0.062;0.571	T	0.65100	-0.6250	10	0.15499	T	0.54	.	15.9685	0.79995	0.0:0.8291:0.1709:0.0	.	291;273	Q96CA5;Q96CA5-2	BIRC7_HUMAN;.	R	273;291;186	ENSP00000345213:S273R;ENSP00000217169:S291R;ENSP00000378717:S186R	ENSP00000217169:S291R	S	+	3	2	BIRC7	61341378	1.000000	0.71417	0.186000	0.23195	0.009000	0.06853	1.130000	0.31393	2.246000	0.74042	0.467000	0.42956	AGC		0.731	BIRC7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080114.2	NM_139317		7	24	0	0	0	1	0	7	24				
COL11A1	1301	broad.mit.edu	37	1	103387127	103387127	+	Splice_Site	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:103387127C>A	ENST00000370096.3	-	48	3967	c.3655G>T	c.(3655-3657)Ggg>Tgg	p.G1219W	COL11A1_ENST00000353414.4_Splice_Site_p.G1180W|COL11A1_ENST00000358392.2_Splice_Site_p.G1231W|COL11A1_ENST00000512756.1_Splice_Site_p.G1103W	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1219	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)		CCAGGTGGCCCCTGTAAGAGA	0.363																																						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.e48-1		collagen, type XI, alpha 1							69.0	82.0	77.0					1																	103387127		2203	4299	6502	SO:0001630	splice_region_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.chr1:103387127C>A	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.3655-1G>T	1.37:g.103387127C>A						COL11A1_ENST00000370096.3_Splice_Site_p.G1219_splice|COL11A1_ENST00000512756.1_Splice_Site_p.G1103_splice|COL11A1_ENST00000353414.4_Splice_Site_p.G1180_splice	p.G1231_splice	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	48	4008	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1219			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Splice_Site	SNP	ENST00000370096.3	37	c.3690_splice	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.769513	0.49680	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.97279	-4.32;-4.25;-4.32;-4.32	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.99077	0.9683	H	0.96777	3.88	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	0.997;1.0;1.0;1.0;0.999	D	0.99387	1.0924	10	0.87932	D	0	.	17.7152	0.88335	0.0:1.0:0.0:0.0	.	1103;1180;1231;1219;439	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	W	1219;1231;1180;439;1103	ENSP00000359114:G1219W;ENSP00000351163:G1231W;ENSP00000302551:G1180W;ENSP00000426533:G1103W	ENSP00000302551:G1180W	G	-	1	0	COL11A1	103159715	1.000000	0.71417	1.000000	0.80357	0.515000	0.34225	7.364000	0.79526	2.605000	0.88082	0.655000	0.94253	GGG		0.363	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	Missense_Mutation	17	33	1	0	5.03518e-11	1	6.36591e-11	17	33				
DCTN1	1639	broad.mit.edu	37	2	74598237	74598237	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:74598237G>A	ENST00000361874.3	-	9	1029	c.712C>T	c.(712-714)Cgg>Tgg	p.R238W	DCTN1_ENST00000409567.3_Missense_Mutation_p.R218W|DCTN1_ENST00000394003.3_Missense_Mutation_p.R231W|DCTN1_ENST00000409240.1_Missense_Mutation_p.R201W|DCTN1_ENST00000407639.2_Missense_Mutation_p.R104W|DCTN1_ENST00000409438.1_Missense_Mutation_p.R104W|DCTN1_ENST00000409868.1_Missense_Mutation_p.R221W	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	238					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TCTTCTGCCCGTTTCAGTCTC	0.552																																						ENST00000361874.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						c.(712-714)Cgg>Tgg		dynactin 1							288.0	294.0	292.0					2																	74598237		2203	4300	6503	SO:0001583	missense	1639				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74598237G>A		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.712C>T	2.37:g.74598237G>A	ENSP00000354791:p.Arg238Trp					DCTN1_ENST00000409240.1_Missense_Mutation_p.R201W|DCTN1_ENST00000409567.3_Missense_Mutation_p.R218W|DCTN1_ENST00000394003.3_Missense_Mutation_p.R231W|DCTN1_ENST00000407639.2_Missense_Mutation_p.R104W|DCTN1_ENST00000409438.1_Missense_Mutation_p.R104W|DCTN1_ENST00000409868.1_Missense_Mutation_p.R221W	p.R238W	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN			9	1029	-			238					A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	ENST00000361874.3	37	c.712C>T	CCDS1939.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.148856	0.78001	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	T;T;T;T;D;T;T	0.82893	-1.28;-1.44;-1.45;-1.45;-1.66;-1.47;-1.43	5.76	5.76	0.90799	.	0.000000	0.40640	N	0.001046	D	0.93009	0.7775	M	0.93507	3.425	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.999;0.985;1.0;1.0;0.994	D	0.94146	0.7401	10	0.87932	D	0	-10.967	13.6804	0.62481	0.0:0.0:0.8453:0.1546	.	218;201;238;231;104;104	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4	.;.;DCTN1_HUMAN;.;.;.	W	238;231;221;104;104;201;221;218	ENSP00000354791:R238W;ENSP00000377571:R231W;ENSP00000384844:R104W;ENSP00000387270:R104W;ENSP00000386406:R201W;ENSP00000387327:R221W;ENSP00000386843:R218W	ENSP00000354791:R238W	R	-	1	2	DCTN1	74451745	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.643000	0.54374	2.719000	0.93026	0.655000	0.94253	CGG		0.552	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		167	236	0	0	0	1	0	167	236				
RNF175	285533	broad.mit.edu	37	4	154649432	154649432	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:154649432C>T	ENST00000347063.4	-	4	700	c.328G>A	c.(328-330)Ggg>Agg	p.G110R	RNF175_ENST00000506505.1_Intron|RNF175_ENST00000274068.4_Intron|RP11-153M7.5_ENST00000505051.1_RNA	NM_173662.2	NP_775933	Q8N4F7	RN175_HUMAN	ring finger protein 175	110						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13	all_hematologic(180;0.093)	Renal(120;0.118)				GAGAACATCCCCCACATAGAC	0.463																																						ENST00000347063.4																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13						c.(328-330)Ggg>Agg		ring finger protein 175							119.0	120.0	120.0					4																	154649432		1877	4107	5984	SO:0001583	missense	285533					integral to membrane	zinc ion binding	g.chr4:154649432C>T	BC034385	CCDS47149.1	4q31.3	2008-02-05			ENSG00000145428	ENSG00000145428		"""RING-type (C3HC4) zinc fingers"""	27735	protein-coding gene	gene with protein product							Standard	NM_173662		Approved	FLJ34190	uc003int.3	Q8N4F7	OTTHUMG00000161557	ENST00000347063.4:c.328G>A	4.37:g.154649432C>T	ENSP00000340979:p.Gly110Arg					RNF175_ENST00000274068.4_Intron|RNF175_ENST00000506505.1_Intron	p.G110R	NM_173662.2	NP_775933.1	Q8N4F7	RN175_HUMAN			4	700	-	all_hematologic(180;0.093)	Renal(120;0.118)	110					C9JL66|Q8NB61	Missense_Mutation	SNP	ENST00000347063.4	37	c.328G>A	CCDS47149.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.028965	0.35797	.	.	ENSG00000145428	ENST00000347063;ENST00000508248	T;T	0.61158	0.13;0.13	4.69	3.83	0.44106	.	0.000000	0.85682	D	0.000000	T	0.41282	0.1152	N	0.22421	0.69	0.80722	D	1	B	0.34103	0.437	B	0.33846	0.171	T	0.38308	-0.9667	10	0.44086	T	0.13	-13.7671	10.089	0.42436	0.366:0.634:0.0:0.0	.	110	Q8N4F7	RN175_HUMAN	R	110;50	ENSP00000340979:G110R;ENSP00000427472:G50R	ENSP00000340979:G110R	G	-	1	0	RNF175	154868882	0.134000	0.22483	0.997000	0.53966	0.979000	0.70002	0.570000	0.23653	1.535000	0.49220	0.655000	0.94253	GGG		0.463	RNF175-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365286.1	NM_173662		39	36	0	0	0	1	0	39	36				
REXO1L1P	254958	broad.mit.edu	37	8	86573789	86573789	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr8:86573789G>C	ENST00000379010.2	-	1	1937	c.1938C>G	c.(1936-1938)tgC>tgG	p.C646W		NM_172239.4	NP_758439.4														endometrium(1)|lung(4)	5						CCAGCTGCAGGCAGGCGCTTG	0.677																																						ENST00000379010.2																			0				endometrium(1)|lung(4)	5						c.(1936-1938)tgC>tgG		REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1							5.0	5.0	5.0					8																	86573789		1853	3765	5618	SO:0001583	missense	254958					cytoplasm|nucleus	exonuclease activity|nucleic acid binding	g.chr8:86573789G>C																												ENST00000379010.2:c.1938C>G	8.37:g.86573789G>C	ENSP00000368295:p.Cys646Trp						p.C646W	NM_172239.4	NP_758439.4	Q8IX06	GOR_HUMAN			1	1937	-			646						Missense_Mutation	SNP	ENST00000379010.2	37	c.1938C>G		.	.	.	.	.	.	.	.	.	.	G	10.17	1.276568	0.23307	.	.	ENSG00000205176	ENST00000379010	T	0.23147	1.92	0.793	0.793	0.18632	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.000000	0.85682	U	0.000000	T	0.55337	0.1914	H	0.96518	3.835	0.21579	N	0.999638	D	0.76494	0.999	D	0.81914	0.995	T	0.47471	-0.9115	10	0.87932	D	0	.	4.7632	0.13118	0.0:0.0:1.0:0.0	.	646	Q8IX06	GOR_HUMAN	W	646	ENSP00000368295:C646W	ENSP00000368295:C646W	C	-	3	2	REXO1L1	86761041	0.908000	0.30866	0.063000	0.19743	0.064000	0.16182	2.023000	0.41040	0.191000	0.20236	0.194000	0.17425	TGC		0.677	REXO1L1-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000381106.1			5	108	0	0	0	1	0	5	108				
CCDC54	84692	broad.mit.edu	37	3	107097252	107097252	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr3:107097252A>C	ENST00000261058.1	+	1	1065	c.818A>C	c.(817-819)cAg>cCg	p.Q273P		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	273										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						GAATTCATCCAGTGGCTTCTT	0.438																																						ENST00000261058.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						c.(817-819)cAg>cCg		coiled-coil domain containing 54							82.0	93.0	89.0					3																	107097252		2203	4300	6503	SO:0001583	missense	84692							g.chr3:107097252A>C	AF367469	CCDS2949.1	3q13.12	2013-10-11			ENSG00000138483	ENSG00000138483			30703	protein-coding gene	gene with protein product	"""sperm protein 17"""					15257753	Standard	NM_032600		Approved	NYD-SP17, FLJ25362, SP17	uc003dwi.1	Q8NEL0	OTTHUMG00000159169	ENST00000261058.1:c.818A>C	3.37:g.107097252A>C	ENSP00000261058:p.Gln273Pro						p.Q273P	NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN			1	1065	+			273					Q96A43	Missense_Mutation	SNP	ENST00000261058.1	37	c.818A>C	CCDS2949.1	.	.	.	.	.	.	.	.	.	.	A	17.11	3.305676	0.60305	.	.	ENSG00000138483	ENST00000261058	T	0.52754	0.65	5.09	3.95	0.45737	.	0.297648	0.24224	N	0.040412	T	0.57740	0.2074	M	0.64997	1.995	0.29599	N	0.84785	D	0.61697	0.99	P	0.62382	0.901	T	0.57081	-0.7872	10	0.72032	D	0.01	-1.8978	6.7696	0.23587	0.8957:0.0:0.1043:0.0	.	273	Q8NEL0	CCD54_HUMAN	P	273	ENSP00000261058:Q273P	ENSP00000261058:Q273P	Q	+	2	0	CCDC54	108579942	1.000000	0.71417	0.988000	0.46212	0.967000	0.64934	2.718000	0.47236	1.911000	0.55334	0.377000	0.23210	CAG		0.438	CCDC54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353651.1	NM_032600		37	15	0	0	0	1	0	37	15				
CMIP	80790	broad.mit.edu	37	16	81711921	81711921	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr16:81711921G>T	ENST00000537098.3	+	10	1148	c.1076G>T	c.(1075-1077)tGc>tTc	p.C359F	CMIP_ENST00000539778.2_Missense_Mutation_p.C265F|CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000398040.4_Missense_Mutation_p.C206F	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	359						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(5)|kidney(1)|lung(7)	13						CGGAACGGCTGCCAGCAGCCG	0.637																																						ENST00000537098.3																			0				endometrium(5)|kidney(1)|lung(7)	13						c.(1075-1077)tGc>tTc		c-Maf inducing protein							25.0	27.0	26.0					16																	81711921		1987	4143	6130	SO:0001583	missense	80790					cytoplasm|nucleus		g.chr16:81711921G>T	AB051481	CCDS54044.1, CCDS54045.1	16q23	2011-08-04			ENSG00000153815	ENSG00000153815			24319	protein-coding gene	gene with protein product		610112				11214970, 12939343	Standard	NM_030629		Approved		uc002fgp.3	Q8IY22		ENST00000537098.3:c.1076G>T	16.37:g.81711921G>T	ENSP00000446100:p.Cys359Phe					CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000539778.2_Missense_Mutation_p.C265F|CMIP_ENST00000398040.4_Missense_Mutation_p.C206F	p.C359F	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN			10	1148	+			325					Q9C0G9	Missense_Mutation	SNP	ENST00000537098.3	37	c.1076G>T	CCDS54044.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411372	0.83340	.	.	ENSG00000153815	ENST00000537098;ENST00000539778;ENST00000398040;ENST00000542097	T;T	0.09538	2.97;2.97	5.01	5.01	0.66863	.	0.103319	0.64402	D	0.000002	T	0.20941	0.0504	N	0.19112	0.55	0.80722	D	1	D;D;D	0.60575	0.988;0.988;0.98	D;D;D	0.74348	0.983;0.983;0.974	T	0.06197	-1.0840	10	0.54805	T	0.06	.	18.3119	0.90203	0.0:0.0:1.0:0.0	.	206;265;359	Q8IY22-3;Q8IY22-2;Q8IY22	.;.;CMIP_HUMAN	F	359;265;265;172	ENSP00000446100:C359F;ENSP00000440401:C265F	ENSP00000381120:C265F	C	+	2	0	CMIP	80269422	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.895000	0.92512	2.342000	0.79632	0.561000	0.74099	TGC		0.637	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432399.2	NM_030629		7	15	1	0	1.06961e-07	1	1.25656e-07	7	15				
OR8H2	390151	broad.mit.edu	37	11	55872885	55872885	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:55872885T>C	ENST00000313503.1	+	1	367	c.367T>C	c.(367-369)Tat>Cat	p.Y123H		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	123						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CCATGATCGCTATGCAGCGAT	0.463										HNSCC(53;0.14)																												ENST00000313503.1																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61						c.(367-369)Tat>Cat		olfactory receptor, family 8, subfamily H, member 2							189.0	189.0	189.0					11																	55872885		2201	4294	6495	SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55872885T>C	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.367T>C	11.37:g.55872885T>C	ENSP00000323982:p.Tyr123His	HNSCC(53;0.14)					p.Y123H	NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN			1	367	+	Esophageal squamous(21;0.00693)		123					Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	c.367T>C	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	t	13.34	2.208927	0.39003	.	.	ENSG00000181767	ENST00000313503	T	0.02103	4.45	3.35	3.35	0.38373	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000204	T	0.13200	0.0320	M	0.88105	2.93	0.33211	D	0.55339	D	0.76494	0.999	D	0.73380	0.98	T	0.18840	-1.0324	10	0.37606	T	0.19	.	12.5412	0.56172	0.0:0.0:0.0:1.0	.	123	Q8N162	OR8H2_HUMAN	H	123	ENSP00000323982:Y123H	ENSP00000323982:Y123H	Y	+	1	0	OR8H2	55629461	0.740000	0.28207	0.844000	0.33320	0.014000	0.08584	4.660000	0.61511	1.497000	0.48584	0.362000	0.22060	TAT		0.463	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		52	118	0	0	0	1	0	52	118				
PCDHGA3	56112	broad.mit.edu	37	5	140724669	140724669	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr5:140724669C>T	ENST00000253812.6	+	1	1069	c.1069C>T	c.(1069-1071)Cca>Tca	p.P357S	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	357	Cadherin 4. {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)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCTCAGTCCCAGAAGAGGG	0.473																																						ENST00000253812.6																			0				breast(1)	1						c.(1069-1071)Cca>Tca									101.0	103.0	103.0					5																	140724669		2015	4211	6226	SO:0001583	missense	56112							g.chr5:140724669C>T	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.1069C>T	5.37:g.140724669C>T	ENSP00000253812:p.Pro357Ser					PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.P357S	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1069	+								Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	c.1069C>T	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	1.343	-0.593646	0.03771	.	.	ENSG00000254245	ENST00000253812	T	0.01629	4.72	5.41	4.55	0.56014	Cadherin (3);Cadherin-like (1);	0.253649	0.20257	U	0.095947	T	0.02230	0.0069	L	0.35723	1.085	0.09310	N	1	B;B	0.16166	0.013;0.016	B;B	0.21360	0.02;0.034	T	0.44236	-0.9341	10	0.21014	T	0.42	.	14.1271	0.65228	0.0:0.9268:0.0:0.0732	.	357;357	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	S	357	ENSP00000253812:P357S	ENSP00000253812:P357S	P	+	1	0	PCDHGA3	140704853	0.000000	0.05858	0.077000	0.20336	0.216000	0.24613	-1.089000	0.03376	1.429000	0.47314	0.655000	0.94253	CCA		0.473	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		29	10	0	0	0	1	0	29	10				
ZSCAN5B	342933	broad.mit.edu	37	19	56704107	56704107	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:56704107C>G	ENST00000586855.2	-	2	628	c.315G>C	c.(313-315)aaG>aaC	p.K105N	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.K105N			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	105	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CACCGTTCACCTTGACTAAGA	0.552																																						ENST00000586855.2																			0				breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(313-315)aaG>aaC		zinc finger and SCAN domain containing 5B							34.0	37.0	36.0					19																	56704107		2193	4257	6450	SO:0001583	missense	342933				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56704107C>G		CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"""-"", ""Zinc fingers, C2H2-type"""	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.315G>C	19.37:g.56704107C>G	ENSP00000466072:p.Lys105Asn					ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.K105N	p.K105N			A6NJL1	ZSA5B_HUMAN			2	628	-			105			SCAN box.			Missense_Mutation	SNP	ENST00000586855.2	37	c.315G>C	CCDS46203.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.008016	0.54361	.	.	ENSG00000197213	ENST00000358992	T	0.04406	3.63	2.48	1.42	0.22433	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.10035	0.0246	L	0.57536	1.79	0.09310	N	1	D	0.58970	0.984	P	0.54815	0.761	T	0.18967	-1.0320	9	0.52906	T	0.07	.	5.1169	0.14838	0.0:0.8254:0.0:0.1746	.	105	A6NJL1	ZSA5B_HUMAN	N	105	ENSP00000351883:K105N	ENSP00000351883:K105N	K	-	3	2	ZSCAN5B	61395919	0.002000	0.14202	0.008000	0.14137	0.668000	0.39293	0.559000	0.23485	0.603000	0.29913	0.313000	0.20887	AAG		0.552	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2	NM_001080456		16	22	0	0	0	1	0	16	22				
TACC2	10579	broad.mit.edu	37	10	123842196	123842196	+	Missense_Mutation	SNP	G	G	T	rs115572080	byFrequency	TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr10:123842196G>T	ENST00000369005.1	+	4	521	c.181G>T	c.(181-183)Gct>Tct	p.A61S	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.A61S|TACC2_ENST00000334433.3_Missense_Mutation_p.A61S|TACC2_ENST00000453444.2_Missense_Mutation_p.A61S|TACC2_ENST00000515603.1_Missense_Mutation_p.A61S|TACC2_ENST00000513429.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	61					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)	p.A61T(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTTCTGCACCGCTTCTGAGAG	0.542																																						ENST00000369005.1																			1	Substitution - Missense(1)	p.A61T(1)	large_intestine(1)	NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(181-183)Gct>Tct		transforming, acidic coiled-coil containing protein 2							87.0	88.0	88.0					10																	123842196		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123842196G>T	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.181G>T	10.37:g.123842196G>T	ENSP00000358001:p.Ala61Ser					TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.A61S|TACC2_ENST00000515273.1_Missense_Mutation_p.A61S|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.A61S|TACC2_ENST00000453444.2_Missense_Mutation_p.A61S	p.A61S	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			4	521	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	61					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.181G>T	CCDS7626.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.01|16.01	2.999977|2.999977	0.54147|0.54147	.|.	.|.	ENSG00000138162|ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076|ENST00000491540	T;T;T;T;T|.	0.03831|.	3.85;3.79;3.82;3.85;3.79|.	5.25|5.25	-10.5|-10.5	0.00291|0.00291	.|.	0.864674|.	0.09443|.	N|.	0.801535|.	T|T	0.24236|0.24236	0.0587|0.0587	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	B;B;B|.	0.13145|.	0.007;0.007;0.007|.	B;B;B|.	0.12156|.	0.007;0.007;0.007|.	T|T	0.14200|0.14200	-1.0481|-1.0481	10|5	0.66056|.	D|.	0.02|.	0.0157|0.0157	7.1669|7.1669	0.25695|0.25695	0.2288:0.1145:0.5653:0.0914|0.2288:0.1145:0.5653:0.0914	.|.	61;61;61|.	E9PBC6;E7EMZ9;O95359|.	.;.;TACC2_HUMAN|.	S|L	61;61;61;61;61;51|74	ENSP00000358001:A61S;ENSP00000424467:A61S;ENSP00000427618:A61S;ENSP00000334280:A61S;ENSP00000395048:A61S|.	ENSP00000334280:A61S|.	A|R	+|+	1|2	0|0	TACC2|TACC2	123832186|123832186	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.508000|0.508000	0.34012|0.34012	-2.346000|-2.346000	0.01096|0.01096	-3.016000|-3.016000	0.00271|0.00271	-0.252000|-0.252000	0.11476|0.11476	GCT|CGC		0.542	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			34	39	1	0	1.22384e-17	1	1.64938e-17	34	39				
SNHG14	104472715	broad.mit.edu	37	15	25430593	25430593	+	RNA	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr15:25430593G>C	ENST00000424208.1	+	0	454				SNORD115-8_ENST00000363856.1_RNA|SNORD115-9_ENST00000362912.1_RNA|SNHG14_ENST00000365306.1_RNA|SNORD115-10_ENST00000365073.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		CCTCCAGATGGTGAGCACAGA	0.592																																						ENST00000424208.1																			0																																																			104472715							g.chr15:25430593G>C			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25430593G>C								NR_003305.1						0	454	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.592	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			7	6	0	0	0	1	0	7	6				
DLG2	1740	broad.mit.edu	37	11	83173017	83173017	+	Nonstop_Mutation	SNP	C	C	G	rs376645412		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:83173017C>G	ENST00000531015.1	-	21	2459	c.2435G>C	c.(2434-2436)tGa>tCa	p.*812S	DLG2_ENST00000543673.1_Intron|DLG2_ENST00000404783.3_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000418306.2_Intron|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000426717.2_Intron|DLG2_ENST00000537455.1_Intron|DLG2_ENST00000376106.3_Intron|DLG2_ENST00000280241.8_Intron|DLG2_ENST00000330014.6_Intron			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TCCCCTTTCTCACACTACCAG	0.413																																						ENST00000531015.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(2434-2436)tGa>tCa		discs, large homolog 2 (Drosophila)							94.0	87.0	89.0					11																	83173017		1844	4105	5949	SO:0001578	stop_lost	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	g.chr11:83173017C>G	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000531015.1:c.2435G>C	11.37:g.83173017C>G						DLG2_ENST00000376106.3_Intron|DLG2_ENST00000426717.2_Intron|DLG2_ENST00000404783.3_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000418306.2_Intron|DLG2_ENST00000280241.8_Intron|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000330014.6_Intron|DLG2_ENST00000537455.1_Intron|DLG2_ENST00000524982.1_Intron	p.*812S			Q15700	DLG2_HUMAN			21	2459	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	0			Guanylate kinase-like.		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Nonstop_Mutation	SNP	ENST00000531015.1	37	c.2435G>C		.	.	.	.	.	.	.	.	.	.	C	2.180	-0.387734	0.04932	.	.	ENSG00000150672	ENST00000531015	.	.	.	4.75	-2.73	0.05950	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.1509	0.03799	0.1261:0.2042:0.4046:0.2651	.	.	.	.	S	812	.	.	X	-	2	2	DLG2	82850665	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	-2.544000	0.00933	-0.296000	0.08947	-0.176000	0.13171	TGA		0.413	DLG2-014	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000393440.1	NM_001364		10	33	0	0	0	1	0	10	33				
LINC00207	388910	broad.mit.edu	37	22	44966397	44966397	+	lincRNA	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr22:44966397G>C	ENST00000605505.1	+	0	175					NR_028409.1				long intergenic non-protein coding RNA 207											lung(3)	3						TTAAAGAGGAGAATGGATGGT	0.493																																						ENST00000605505.1																			0				lung(3)	3															69.0	63.0	65.0					22																	44966397		1994	4155	6149			388910							g.chr22:44966397G>C	BC144508		22q13.31	2012-10-12	2011-08-11	2011-08-11	ENSG00000187012	ENSG00000187012		"""Long non-coding RNAs"""	37255	non-coding RNA	RNA, long non-coding			"""non-protein coding RNA 207"""	NCRNA00207			Standard	NR_028409		Approved		uc021wre.2		OTTHUMG00000150462		22.37:g.44966397G>C								NR_028409.1						0	175	+									RNA	SNP	ENST00000605505.1	37			.	.	.	.	.	.	.	.	.	.	G	3.141	-0.176327	0.06380	.	.	ENSG00000187012	ENST00000334566	.	.	.	1.82	-0.61	0.11604	.	.	.	.	.	T	0.26846	0.0657	.	.	.	0.09310	N	1	B	0.22211	0.066	B	0.20955	0.032	T	0.29119	-1.0022	7	0.87932	D	0	.	2.7121	0.05177	0.2231:0.3016:0.4754:0.0	.	18	Q5JZ73	.	D	18	.	ENSP00000334101:E18D	E	+	3	2	NCRNA00207	43345061	0.004000	0.15560	0.003000	0.11579	0.014000	0.08584	0.075000	0.14686	-0.086000	0.12550	-0.176000	0.13171	GAG		0.493	LINC00207-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000468439.1	NR_028409		5	11	0	0	0	1	0	5	11				
DRD2	1813	broad.mit.edu	37	11	113295255	113295255	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:113295255A>T	ENST00000362072.3	-	2	463	c.119T>A	c.(118-120)cTg>cAg	p.L40Q	DRD2_ENST00000535984.1_5'Flank|DRD2_ENST00000355319.2_Missense_Mutation_p.L40Q|DRD2_ENST00000538967.1_Missense_Mutation_p.L40Q|DRD2_ENST00000544518.1_Missense_Mutation_p.L40Q|DRD2_ENST00000346454.3_Missense_Mutation_p.L40Q|DRD2_ENST00000542968.1_Missense_Mutation_p.L40Q	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	40				L -> R (in Ref. 7; AAB26819). {ECO:0000305}.	activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CAGGGTGAGCAGTGTGGCATA	0.587																																						ENST00000362072.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39						c.(118-120)cTg>cAg		dopamine receptor D2	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)						268.0	205.0	226.0					11																	113295255		2201	4296	6497	SO:0001583	missense	1813				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	g.chr11:113295255A>T	M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"""GPCR / Class A : Dopamine receptors"""	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.119T>A	11.37:g.113295255A>T	ENSP00000354859:p.Leu40Gln					DRD2_ENST00000355319.2_Missense_Mutation_p.L40Q|DRD2_ENST00000346454.3_Missense_Mutation_p.L40Q|DRD2_ENST00000542968.1_Missense_Mutation_p.L40Q|DRD2_ENST00000544518.1_Missense_Mutation_p.L40Q|DRD2_ENST00000538967.1_Missense_Mutation_p.L40Q	p.L40Q	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	2	463	-		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)	40	L -> R (in Ref. 7; AAB26819).				Q9NZR3|Q9UPA9	Missense_Mutation	SNP	ENST00000362072.3	37	c.119T>A	CCDS8361.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.030843	0.75504	.	.	ENSG00000149295	ENST00000355319;ENST00000346454;ENST00000362072;ENST00000544518;ENST00000542968;ENST00000538967;ENST00000543292	T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.51702	0.1690	N	0.24115	0.695	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.83275	0.995;0.996;0.994;0.977	T	0.57118	-0.7866	10	0.72032	D	0.01	.	15.6181	0.76784	1.0:0.0:0.0:0.0	.	40;40;40;40	F8VUV1;P14416-3;P14416-2;P14416	.;.;.;DRD2_HUMAN	Q	40	ENSP00000347474:L40Q;ENSP00000278597:L40Q;ENSP00000354859:L40Q;ENSP00000441068:L40Q;ENSP00000442172:L40Q;ENSP00000438215:L40Q;ENSP00000438419:L40Q	ENSP00000278597:L40Q	L	-	2	0	DRD2	112800465	1.000000	0.71417	1.000000	0.80357	0.646000	0.38490	7.506000	0.81665	2.087000	0.62958	0.454000	0.30748	CTG		0.587	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395834.1	NM_000795		23	53	0	0	0	1	0	23	53				
CPO	130749	broad.mit.edu	37	2	207814372	207814372	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:207814372G>C	ENST00000272852.3	+	2	146	c.100G>C	c.(100-102)Gac>Cac	p.D34H		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	34						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		AGAGATTGTGGACAAGTCAGT	0.498																																						ENST00000272852.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14						c.(100-102)Gac>Cac		carboxypeptidase O							139.0	121.0	127.0					2																	207814372		2203	4300	6503	SO:0001583	missense	130749				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr2:207814372G>C		CCDS2372.1	2q34	2012-02-10			ENSG00000144410	ENSG00000144410			21011	protein-coding gene	gene with protein product	"""metallocarboxypeptidase O"", ""metallocarboxypeptidase C"""	609563				11836249	Standard	NM_173077		Approved		uc002vby.2	Q8IVL8	OTTHUMG00000088987	ENST00000272852.3:c.100G>C	2.37:g.207814372G>C	ENSP00000272852:p.Asp34His						p.D34H	NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)	2	146	+			34					Q2M277|Q7RTW7	Missense_Mutation	SNP	ENST00000272852.3	37	c.100G>C	CCDS2372.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.434388	0.43224	.	.	ENSG00000144410	ENST00000272852	T	0.15952	2.38	3.48	3.48	0.39840	.	0.653848	0.14206	N	0.334400	T	0.13798	0.0334	N	0.19112	0.55	0.09310	N	1	P	0.41041	0.736	B	0.41036	0.346	T	0.12863	-1.0531	10	0.72032	D	0.01	.	12.8408	0.57802	0.0:0.0:1.0:0.0	.	34	Q8IVL8	CBPO_HUMAN	H	34	ENSP00000272852:D34H	ENSP00000272852:D34H	D	+	1	0	CPO	207522617	1.000000	0.71417	0.104000	0.21259	0.433000	0.31745	4.685000	0.61693	1.958000	0.56883	0.455000	0.32223	GAC		0.498	CPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202040.2	NM_173077		22	12	0	0	0	1	0	22	12				
LCP1	3936	broad.mit.edu	37	13	46701752	46701752	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr13:46701752T>G	ENST00000398576.2	-	19	2246	c.1858A>C	c.(1858-1860)Atg>Ctg	p.M620L	LCP1_ENST00000323076.2_Missense_Mutation_p.M620L|LCP1_ENST00000435666.2_Missense_Mutation_p.M189L			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	620	Actin-binding 2.|CH 4. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		CCTTTCCCCATGAGGCAGGCA	0.557			T	BCL6	NHL																																	ENST00000398576.2				Dom	yes		13	13q14.1-q14.3	3936	T	lymphocyte cytosolic protein 1 (L-plastin)			L	BCL6		NHL		0				breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34						c.(1858-1860)Atg>Ctg		lymphocyte cytosolic protein 1 (L-plastin)							163.0	145.0	151.0					13																	46701752		2203	4300	6503	SO:0001583	missense	3936				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	g.chr13:46701752T>G	M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"""EF-hand domain containing"""	6528	protein-coding gene	gene with protein product	"""plastin 2"""	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.1858A>C	13.37:g.46701752T>G	ENSP00000381581:p.Met620Leu					LCP1_ENST00000323076.2_Missense_Mutation_p.M620L|LCP1_ENST00000435666.2_Missense_Mutation_p.M189L	p.M620L			P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)	19	2246	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	620			Actin-binding 2.|CH 4.		B2R613|B4DUA0|Q5TBN4	Missense_Mutation	SNP	ENST00000398576.2	37	c.1858A>C	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.651031	0.88056	.	.	ENSG00000136167	ENST00000323076;ENST00000398576;ENST00000435666	D;D;D	0.95447	-3.71;-3.71;-3.71	5.54	4.34	0.51931	Calponin homology domain (5);	0.033500	0.85682	D	0.000000	D	0.97607	0.9216	M	0.84219	2.685	0.80722	D	1	B;P	0.43412	0.381;0.806	P;D	0.77557	0.623;0.99	D	0.97286	0.9921	10	0.51188	T	0.08	-29.8259	12.2375	0.54524	0.0:0.0:0.1424:0.8576	.	189;620	B4DUA0;P13796	.;PLSL_HUMAN	L	620;620;189	ENSP00000315757:M620L;ENSP00000381581:M620L;ENSP00000405134:M189L	ENSP00000315757:M620L	M	-	1	0	LCP1	45599753	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.997000	0.88414	1.009000	0.39289	0.533000	0.62120	ATG		0.557	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298		42	22	0	0	0	1	0	42	22				
SCN4A	6329	broad.mit.edu	37	17	62028832	62028832	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:62028832C>G	ENST00000435607.1	-	14	2881	c.2805G>C	c.(2803-2805)atG>atC	p.M935I	SCN4A_ENST00000578147.1_Missense_Mutation_p.M935I	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	935					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCTCGGTGGGCATCTCCAGGT	0.602																																						ENST00000435607.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(2803-2805)atG>atC		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						63.0	66.0	65.0					17																	62028832		1959	4136	6095	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62028832C>G	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.2805G>C	17.37:g.62028832C>G	ENSP00000396320:p.Met935Ile					SCN4A_ENST00000578147.1_Missense_Mutation_p.M935I	p.M935I	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN			14	2881	-			935					Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.2805G>C	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.275070	0.40194	.	.	ENSG00000007314	ENST00000435607	D	0.82984	-1.67	5.3	4.33	0.51752	Sodium ion transport-associated (1);	0.380726	0.35291	N	0.003307	T	0.71459	0.3342	L	0.31420	0.93	0.32150	N	0.584356	B	0.09022	0.002	B	0.08055	0.003	T	0.71401	-0.4604	10	0.56958	D	0.05	.	6.8599	0.24062	0.1724:0.7402:0.0:0.0873	.	935	P35499	SCN4A_HUMAN	I	935	ENSP00000396320:M935I	ENSP00000396320:M935I	M	-	3	0	SCN4A	59382564	0.984000	0.35163	1.000000	0.80357	0.965000	0.64279	0.001000	0.13038	1.474000	0.48178	0.555000	0.69702	ATG		0.602	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		22	22	0	0	0	1	0	22	22				
TCP10	6953	broad.mit.edu	37	6	167786681	167786681	+	Silent	SNP	G	G	A	rs377499408	byFrequency	TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:167786681G>A	ENST00000397829.4	-	8	1124	c.957C>T	c.(955-957)ccC>ccT	p.P319P	TCP10_ENST00000366827.2_Intron	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	346						cytosol (GO:0005829)		p.P319P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		CCTGTCTGGAGGGAGCGGCGT	0.537													N|||	7	0.00139776	0.0053	0.0	5008	,	,		26724	0.0		0.0	False		,,,				2504	0.0					ENST00000397829.4																			1	Substitution - coding silent(1)	p.P319P(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18						c.(955-957)ccC>ccT		t-complex 10		G		4,3704		0,4,1850	81.0	87.0	85.0		957	-0.9	0.0	6		85	0,8192		0,0,4096	no	coding-synonymous	TCP10	NM_004610.3		0,4,5946	AA,AG,GG		0.0,0.1079,0.0336		319/327	167786681	4,11896	1854	4096	5950	SO:0001819	synonymous_variant	6953					cytosol		g.chr6:167786681G>A	U03399	CCDS43527.1	6q27	2012-09-20	2012-09-20		ENSG00000203690	ENSG00000203690			11656	protein-coding gene	gene with protein product		187020	"""t-complex 10 (a murine tcp homolog)"", ""t-complex 10 (mouse)"", ""t-complex 10 homolog (mouse)"""			8111376	Standard	NM_004610		Approved		uc003qvv.1	Q12799	OTTHUMG00000016026	ENST00000397829.4:c.957C>T	6.37:g.167786681G>A						TCP10_ENST00000366827.2_Intron	p.P319P	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)	8	1124	-		Breast(66;1.53e-05)|Ovarian(120;0.024)	346					Q5JR60|Q6P4F4	Silent	SNP	ENST00000397829.4	37	c.957C>T	CCDS43527.1																																																																																				0.537	TCP10-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365570.1	NM_004610		25	70	0	0	0	1	0	25	70				
BSX	390259	broad.mit.edu	37	11	122848358	122848358	+	Nonstop_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:122848358C>A	ENST00000343035.2	-	3	749	c.701G>T	c.(700-702)tGa>tTa	p.*234L		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	0					eating behavior (GO:0042755)|locomotory behavior (GO:0007626)|mammary gland involution (GO:0060056)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		CCTGGCGGCTCAGAGCACGTG	0.701																																						ENST00000343035.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10						c.(700-702)tGa>tTa		brain-specific homeobox							24.0	26.0	25.0					11																	122848358		1969	4119	6088	SO:0001578	stop_lost	390259							g.chr11:122848358C>A		CCDS41728.1	11q24.1	2011-07-19			ENSG00000188909	ENSG00000188909		"""Homeoboxes / ANTP class : NKL subclass"""	20450	protein-coding gene	gene with protein product		611074					Standard	NM_001098169		Approved	BSX1	uc010rzs.2	Q3C1V8	OTTHUMG00000150247	ENST00000343035.2:c.701G>T	11.37:g.122848358C>A							p.*234L	NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)	3	749	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	0						Nonstop_Mutation	SNP	ENST00000343035.2	37	c.701G>T	CCDS41728.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.632438	0.67015	.	.	ENSG00000188909	ENST00000343035	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.5369	0.45009	0.0:0.9098:0.0:0.0902	.	.	.	.	L	234	.	.	X	-	2	2	BSX	122353568	1.000000	0.71417	0.998000	0.56505	0.925000	0.55904	3.107000	0.50329	2.305000	0.77605	0.561000	0.74099	TGA		0.701	BSX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317076.1	NM_001098169		12	29	1	0	4.3838e-07	1	5.07146e-07	12	29				
CSPG4	1464	broad.mit.edu	37	15	75968495	75968495	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr15:75968495C>G	ENST00000308508.5	-	10	6457	c.6365G>C	c.(6364-6366)aGg>aCg	p.R2122T	AC105020.1_ENST00000435356.1_5'Flank|CTD-2026K11.1_ENST00000569467.1_RNA	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	2122	Cysteine-containing.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CAGCCCCAGCCTCCCGTCCTC	0.736																																						ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(6364-6366)aGg>aCg		chondroitin sulfate proteoglycan 4							10.0	12.0	11.0					15																	75968495		2130	4186	6316	SO:0001583	missense	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75968495C>G	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.6365G>C	15.37:g.75968495C>G	ENSP00000312506:p.Arg2122Thr						p.R2122T	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			10	6457	-			2122			Cysteine-containing.|Neurite growth inhibition (By similarity).		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.6365G>C	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.938877	0.34189	.	.	ENSG00000173546	ENST00000308508;ENST00000537176	T	0.18502	2.21	5.15	3.05	0.35203	.	0.229512	0.29861	N	0.011019	T	0.16300	0.0392	L	0.61218	1.895	0.34600	D	0.716391	P	0.43477	0.808	B	0.41135	0.348	T	0.19582	-1.0301	10	0.27082	T	0.32	.	6.1146	0.20120	0.3514:0.5482:0.0:0.1004	.	2122	Q6UVK1	CSPG4_HUMAN	T	2122;154	ENSP00000312506:R2122T	ENSP00000312506:R2122T	R	-	2	0	CSPG4	73755550	0.526000	0.26298	0.853000	0.33588	0.944000	0.59088	1.346000	0.33964	1.138000	0.42230	0.561000	0.74099	AGG		0.736	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		4	4	0	0	0	1	0	4	4				
KCNK13	56659	broad.mit.edu	37	14	90651103	90651103	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr14:90651103A>G	ENST00000282146.4	+	2	1424	c.983A>G	c.(982-984)gAg>gGg	p.E328G		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	328					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				ATCTCCATAGAGACAGACGGG	0.627																																						ENST00000282146.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25						c.(982-984)gAg>gGg		potassium channel, subfamily K, member 13							63.0	66.0	65.0					14																	90651103		2203	4300	6503	SO:0001583	missense	56659					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:90651103A>G	AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.983A>G	14.37:g.90651103A>G	ENSP00000282146:p.Glu328Gly						p.E328G	NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN			2	1424	+		all_cancers(154;0.186)	328					B5TJL8|Q96E79	Missense_Mutation	SNP	ENST00000282146.4	37	c.983A>G	CCDS9889.1	.	.	.	.	.	.	.	.	.	.	A	12.34	1.908211	0.33721	.	.	ENSG00000152315	ENST00000282146	T	0.12672	2.66	5.42	5.42	0.78866	.	1.397220	0.05049	N	0.477796	T	0.19685	0.0473	L	0.49640	1.575	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.09122	-1.0689	10	0.30854	T	0.27	.	15.448	0.75248	1.0:0.0:0.0:0.0	.	328	Q9HB14	KCNKD_HUMAN	G	328	ENSP00000282146:E328G	ENSP00000282146:E328G	E	+	2	0	KCNK13	89720856	1.000000	0.71417	0.238000	0.24106	0.338000	0.28826	6.084000	0.71335	2.050000	0.60909	0.533000	0.62120	GAG		0.627	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411251.1	NM_022054		30	68	0	0	0	1	0	30	68				
MTCL1	23255	broad.mit.edu	37	18	8825951	8825951	+	Silent	SNP	A	A	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr18:8825951A>T	ENST00000306329.11	+	13	5400	c.5400A>T	c.(5398-5400)ccA>ccT	p.P1800P	SOGA2_ENST00000517570.1_Silent_p.P1440P|SOGA2_ENST00000400050.3_Silent_p.P1440P|SOGA2_ENST00000306285.7_Silent_p.P806P|SOGA2_ENST00000359865.3_Silent_p.P1481P|SOGA2_ENST00000518815.1_Silent_p.P806P																							AGCTGGGCCCAGGCCAGGAAA	0.662																																						ENST00000359865.3																			0											c.(4441-4443)ccA>ccT		SOGA family member 2							30.0	34.0	33.0					18																	8825951		2203	4299	6502	SO:0001819	synonymous_variant	23255							g.chr18:8825951A>T																												ENST00000306329.11:c.5400A>T	18.37:g.8825951A>T						SOGA2_ENST00000306329.11_Silent_p.P1800P|SOGA2_ENST00000518815.1_Silent_p.P806P|SOGA2_ENST00000306285.7_Silent_p.P806P|SOGA2_ENST00000400050.3_Silent_p.P1440P|SOGA2_ENST00000517570.1_Silent_p.P1440P	p.P1481P	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN			15	4585	+			1791						Silent	SNP	ENST00000306329.11	37	c.4443A>T																																																																																					0.662	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			33	13	0	0	0	1	0	33	13				
ADAMTS5	11096	broad.mit.edu	37	21	28296890	28296890	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr21:28296890T>C	ENST00000284987.5	-	8	2396	c.2275A>G	c.(2275-2277)Aaa>Gaa	p.K759E	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	759	Spacer.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TGTCGAACTTTTATGTGGGTT	0.438																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	ENST00000284987.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						c.(2275-2277)Aaa>Gaa		ADAM metallopeptidase with thrombospondin type 1 motif, 5							133.0	136.0	135.0					21																	28296890		2203	4300	6503	SO:0001583	missense	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28296890T>C	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.2275A>G	21.37:g.28296890T>C	ENSP00000284987:p.Lys759Glu					AP001601.2_ENST00000426771.1_RNA	p.K759E	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN			8	2396	-			759			Spacer.		Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	37	c.2275A>G	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	T	16.32	3.089206	0.55968	.	.	ENSG00000154736	ENST00000284987	T	0.50813	0.73	5.93	5.93	0.95920	ADAM-TS Spacer 1 (1);	0.000000	0.85682	D	0.000000	T	0.52933	0.1765	L	0.31420	0.93	0.58432	D	0.999998	D	0.76494	0.999	D	0.83275	0.996	T	0.45411	-0.9263	10	0.02654	T	1	.	16.3943	0.83563	0.0:0.0:0.0:1.0	.	759	Q9UNA0	ATS5_HUMAN	E	759	ENSP00000284987:K759E	ENSP00000284987:K759E	K	-	1	0	ADAMTS5	27218761	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.673000	0.83973	2.281000	0.76405	0.533000	0.62120	AAA		0.438	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			16	53	0	0	0	1	0	16	53				
EFCAB13	124989	broad.mit.edu	37	17	45490284	45490284	+	Splice_Site	SNP	T	T	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:45490284T>A	ENST00000331493.2	+	22	2833		c.e22+2		EFCAB13_ENST00000517484.1_Splice_Site|CTD-2026D20.2_ENST00000523101.1_RNA	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13							cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										ACGTCAGTGGTGAGCATTTTT	0.348																																						ENST00000331493.2																			0											c.e22+2		EF-hand calcium binding domain 13							125.0	125.0	125.0					17																	45490284		2203	4300	6503	SO:0001630	splice_region_variant	124989							g.chr17:45490284T>A	BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"""EF-hand domain containing"""	26864	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 57"""	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.2422+2T>A	17.37:g.45490284T>A						CTD-2026D20.2_ENST00000523101.1_RNA|EFCAB13_ENST00000517484.1_Splice_Site		NM_152347.4	NP_689560.3					22	2833	+								G3V128|Q49AG9	Splice_Site	SNP	ENST00000331493.2	37		CCDS11512.1	.	.	.	.	.	.	.	.	.	.	t	16.54	3.152068	0.57259	.	.	ENSG00000178852	ENST00000331493;ENST00000517484	.	.	.	3.24	3.24	0.37175	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1113	0.30916	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	C17orf57	42845283	0.999000	0.42202	0.858000	0.33744	0.560000	0.35617	2.408000	0.44574	1.480000	0.48289	0.255000	0.18592	.		0.348	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380147.4	NM_152347	Intron	11	18	0	0	0	1	0	11	18				
C1orf112	55732	broad.mit.edu	37	1	169798416	169798416	+	Silent	SNP	C	C	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:169798416C>G	ENST00000286031.6	+	13	1840	c.1140C>G	c.(1138-1140)ctC>ctG	p.L380L	C1orf112_ENST00000359326.4_Silent_p.L380L|C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000413811.2_Nonsense_Mutation_p.S308*	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	380								p.L380L(1)		breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TATCTCTACTCAAAGCCGTTT	0.368																																						ENST00000413811.2																			1	Substitution - coding silent(1)	p.L380L(1)	lung(1)	breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34						c.(922-924)tCa>tGa		chromosome 1 open reading frame 112							121.0	118.0	119.0					1																	169798416		2203	4300	6503	SO:0001819	synonymous_variant	55732							g.chr1:169798416C>G	AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.1140C>G	1.37:g.169798416C>G						C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000359326.4_Silent_p.L380L|C1orf112_ENST00000286031.6_Silent_p.L380L	p.S308*			Q9NSG2	CA112_HUMAN			11	1158	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		337					A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Nonsense_Mutation	SNP	ENST00000286031.6	37	c.923C>G	CCDS1285.1	.	.	.	.	.	.	.	.	.	.	C	35	5.597376	0.96602	.	.	ENSG00000000460	ENST00000413811	.	.	.	5.78	1.21	0.21127	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-6.3509	5.8291	0.18570	0.0:0.4973:0.2791:0.2236	.	.	.	.	X	308	.	ENSP00000389257:S308X	S	+	2	0	C1orf112	168065040	0.984000	0.35163	0.998000	0.56505	0.984000	0.73092	0.351000	0.20096	0.346000	0.23899	0.563000	0.77884	TCA		0.368	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087126.3	NM_018186		4	23	0	0	0	1	0	4	23				
GH2	2689	broad.mit.edu	37	17	61958001	61958001	+	Intron	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:61958001G>C	ENST00000423893.2	-	5	518				GH2_ENST00000332800.7_Missense_Mutation_p.P196R|GH2_ENST00000449787.2_Intron|GH2_ENST00000456543.2_Intron			P01242	SOM2_HUMAN	growth hormone 2						JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						ATTCACGAGGGGAAATGAAGA	0.567																																						ENST00000332800.7																			0				breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						c.(586-588)cCc>cGc		growth hormone 2							85.0	87.0	86.0					17																	61958001		2203	4300	6503	SO:0001627	intron_variant	2689					extracellular region	hormone activity	g.chr17:61958001G>C	J03756	CCDS11647.1, CCDS11648.1, CCDS45757.1, CCDS45758.1	17q22-q24	2014-01-30						"""Endogenous ligands"""	4262	protein-coding gene	gene with protein product	"""placental-specific growth hormone"", ""placenta-specific growth hormone"""	139240				6306568	Standard	NM_002059		Approved	GH-V, GHV, GHL, hGH-V	uc002jcl.2	P01242		ENST00000423893.2:c.457-123C>G	17.37:g.61958001G>C						GH2_ENST00000423893.2_Intron|GH2_ENST00000449787.2_Intron|GH2_ENST00000456543.2_Intron	p.P196R	NM_002059.4|NM_022557.3|NM_022558.3	NP_002050.1|NP_072051.1|NP_072052.1	P01242	SOM2_HUMAN			4	720	-			0					B1A4H5|B1A4H7|O14643|O14644|P09587	Missense_Mutation	SNP	ENST00000423893.2	37	c.587C>G	CCDS11647.1	.	.	.	.	.	.	.	.	.	.	g	10.48	1.363314	0.24684	.	.	ENSG00000136487	ENST00000332800	D	0.89485	-2.52	2.74	-0.646	0.11472	.	2587.440000	0.00397	N	0.000056	T	0.74566	0.3733	.	.	.	0.09310	N	1	P	0.44380	0.834	B	0.39706	0.307	T	0.69514	-0.5125	9	0.02654	T	1	.	5.3442	0.16000	0.4402:0.0:0.5598:0.0	.	196	B1A4H7	.	R	196	ENSP00000333157:P196R	ENSP00000333157:P196R	P	-	2	0	GH2	59311733	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.015000	0.12634	-0.225000	0.09913	0.306000	0.20318	CCC		0.567	GH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417665.1	NM_002059		84	59	0	0	0	1	0	84	59				
ARID5B	84159	broad.mit.edu	37	10	63829551	63829551	+	Silent	SNP	T	T	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr10:63829551T>C	ENST00000279873.7	+	8	1604	c.1194T>C	c.(1192-1194)taT>taC	p.Y398Y	ARID5B_ENST00000309334.5_Silent_p.Y155Y	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	398	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GCAGACATTATGAAAGGTAAG	0.418																																						ENST00000279873.7																			0				NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(1192-1194)taT>taC		AT rich interactive domain 5B (MRF1-like)							45.0	45.0	45.0					10																	63829551		2203	4300	6503	SO:0001819	synonymous_variant	84159				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	g.chr10:63829551T>C	M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.1194T>C	10.37:g.63829551T>C						ARID5B_ENST00000309334.5_Silent_p.Y155Y	p.Y398Y	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN			8	1604	+	Prostate(12;0.016)|all_hematologic(501;0.215)		398			ARID.		B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Silent	SNP	ENST00000279873.7	37	c.1194T>C	CCDS31208.1																																																																																				0.418	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		4	15	0	0	0	1	0	4	15				
INPP5J	27124	broad.mit.edu	37	22	31521996	31521996	+	Splice_Site	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr22:31521996G>T	ENST00000331075.5	+	2	1320	c.1271G>T	c.(1270-1272)cGg>cTg	p.R424L	INPP5J_ENST00000412277.2_Splice_Site_p.R357L|INPP5J_ENST00000401755.1_5'Flank|INPP5J_ENST00000400294.2_Splice_Site_p.R57L|INPP5J_ENST00000402238.1_5'Flank|INPP5J_ENST00000405300.1_Splice_Site_p.R57L|INPP5J_ENST00000404453.1_5'Flank|INPP5J_ENST00000404390.3_Intron	NM_001284285.1	NP_001271214.1	Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	424					inositol phosphate metabolic process (GO:0043647)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						CCCGGCTTCCGGTGAGGGGGC	0.602																																						ENST00000331075.5																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						c.e2+1		inositol polyphosphate-5-phosphatase J							40.0	44.0	43.0					22																	31521996		1859	4096	5955	SO:0001630	splice_region_variant	27124					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding	g.chr22:31521996G>T	U45975	CCDS46687.1, CCDS63453.1, CCDS63454.1, CCDS63455.1, CCDS74847.1	22q12.2	2008-09-09	2008-09-09	2008-09-09	ENSG00000185133	ENSG00000185133			8956	protein-coding gene	gene with protein product		606481	"""phosphatidylinositol (4,5) bisphosphate 5-phosphatase, A"""	PIB5PA		10591208	Standard	NM_001284287		Approved	INPP5	uc003aju.4	Q15735	OTTHUMG00000151206	ENST00000331075.5:c.1271+1G>T	22.37:g.31521996G>T						INPP5J_ENST00000405300.1_Splice_Site_p.R57_splice|INPP5J_ENST00000404390.3_Intron|INPP5J_ENST00000412277.2_Splice_Site_p.R357_splice|INPP5J_ENST00000400294.2_Splice_Site_p.R57_splice	p.R424_splice			Q15735	PI5PA_HUMAN			2	1320	+			424					B3KS54|Q32M61|Q6ZTH6|Q8N902|Q9UDT9	Splice_Site	SNP	ENST00000331075.5	37	c.1271_splice		.	.	.	.	.	.	.	.	.	.	G	14.31	2.497519	0.44455	.	.	ENSG00000185133	ENST00000331075;ENST00000412277;ENST00000400294;ENST00000405300	D;D;D;D	0.95656	-3.77;-3.77;-3.77;-3.77	4.67	4.67	0.58626	Endonuclease/exonuclease/phosphatase (1);Inositol polyphosphate-related phosphatase (1);	0.261386	0.32068	N	0.006640	D	0.94618	0.8265	.	.	.	0.42809	D	0.993954	P	0.46784	0.884	P	0.44597	0.454	D	0.95432	0.8517	9	0.87932	D	0	.	14.6772	0.68989	0.0:0.0:1.0:0.0	.	424	Q15735	PI5PA_HUMAN	L	424;357;57;57	ENSP00000333262:R424L;ENSP00000392924:R357L;ENSP00000383150:R57L;ENSP00000384596:R57L	ENSP00000333262:R424L	R	+	2	0	INPP5J	29851996	1.000000	0.71417	1.000000	0.80357	0.572000	0.35998	3.496000	0.53288	2.319000	0.78375	0.462000	0.41574	CGG		0.602	INPP5J-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000321784.1	NM_001002837	Missense_Mutation	5	8	1	0	0.0215528	1	0.0223526	5	8				
ZAP70	7535	broad.mit.edu	37	2	98341614	98341614	+	Silent	SNP	T	T	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:98341614T>A	ENST00000264972.5	+	4	677	c.462T>A	c.(460-462)gcT>gcA	p.A154A	ZAP70_ENST00000442208.1_Silent_p.A28A|ZAP70_ENST00000463643.1_3'UTR	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	154	Interdomain A.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						AGCTCATTGCTACGACGGCCC	0.642																																						ENST00000264972.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						c.(460-462)gcT>gcA		zeta-chain (TCR) associated protein kinase 70kDa							46.0	42.0	44.0					2																	98341614		2203	4300	6503	SO:0001819	synonymous_variant	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98341614T>A	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.462T>A	2.37:g.98341614T>A						ZAP70_ENST00000442208.1_Silent_p.A28A|ZAP70_ENST00000463643.1_3'UTR	p.A154A	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN			4	677	+			154			Interdomain A.		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Silent	SNP	ENST00000264972.5	37	c.462T>A	CCDS33254.1																																																																																				0.642	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			23	29	0	0	0	1	0	23	29				
SATL1	340562	broad.mit.edu	37	X	84363828	84363828	+	5'UTR	SNP	C	C	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chrX:84363828C>G	ENST00000395409.3	-	0	146				SATL1_ENST00000509231.1_Missense_Mutation_p.M49I|SATL1_ENST00000332921.5_5'UTR			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1								N-acetyltransferase activity (GO:0008080)			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						TTGGTTGTTTCATGTCCACTT	0.453											OREG0019887	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000509231.1																			0				NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						c.(145-147)atG>atC		spermidine/spermine N1-acetyl transferase-like 1							387.0	235.0	281.0					X																	84363828		692	1591	2283	SO:0001623	5_prime_UTR_variant	340562						N-acetyltransferase activity	g.chrX:84363828C>G	BC043215	CCDS35343.1, CCDS35343.2	Xq21	2008-02-05			ENSG00000184788	ENSG00000184788			27992	protein-coding gene	gene with protein product						12477932	Standard	NM_001012980		Approved		uc004een.3	Q86VE3	OTTHUMG00000021931	ENST00000395409.3:c.-415G>C	X.37:g.84363828C>G			OREG0019887	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1228	SATL1_ENST00000395409.3_5'UTR|SATL1_ENST00000332921.5_5'UTR	p.M49I			Q86VE3	SATL1_HUMAN			1	226	-			104			Gln-rich.		A0AVK7|E9PB72|Q5H8V9	Missense_Mutation	SNP	ENST00000395409.3	37	c.147G>C		.	.	.	.	.	.	.	.	.	.	-	6.262	0.416438	0.11870	.	.	ENSG00000184788	ENST00000509231	T	0.45668	0.89	3.41	-3.09	0.05331	.	.	.	.	.	T	0.24774	0.0601	L	0.39245	1.2	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.22382	-1.0218	8	.	.	.	.	1.2675	0.02014	0.1473:0.2941:0.1438:0.4148	.	49	E9PB72	.	I	49	ENSP00000425421:M49I	.	M	-	3	0	SATL1	84250484	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.933000	0.01553	-1.113000	0.02981	-0.538000	0.04264	ATG		0.453	SATL1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_291339		14	9	0	0	0	1	0	14	9				
THSD7A	221981	broad.mit.edu	37	7	11514042	11514042	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:11514042C>A	ENST00000423059.4	-	8	2422	c.2171G>T	c.(2170-2172)gGg>gTg	p.G724V	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	724	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GGAGGCCTCCCCATTCCAAGT	0.522										HNSCC(18;0.044)																												ENST00000423059.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(2170-2172)gGg>gTg		thrombospondin, type I, domain containing 7A							99.0	99.0	99.0					7																	11514042		2031	4199	6230	SO:0001583	missense	221981					integral to membrane		g.chr7:11514042C>A		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.2171G>T	7.37:g.11514042C>A	ENSP00000406482:p.Gly724Val	HNSCC(18;0.044)				AC004538.3_ENST00000445839.1_RNA	p.G724V	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	8	2422	-			724			TSP type-1 7.			Missense_Mutation	SNP	ENST00000423059.4	37	c.2171G>T	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.015628	0.35511	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.59502	0.26	5.55	5.55	0.83447	.	0.328852	0.36932	N	0.002333	T	0.50837	0.1639	L	0.41824	1.3	0.80722	D	1	B	0.15473	0.013	B	0.15870	0.014	T	0.42999	-0.9418	10	0.16420	T	0.52	.	19.8575	0.96767	0.0:1.0:0.0:0.0	.	724	Q9UPZ6	THS7A_HUMAN	V	724	ENSP00000406482:G724V	ENSP00000262042:G724V	G	-	2	0	THSD7A	11480567	0.032000	0.19561	0.999000	0.59377	0.578000	0.36192	1.456000	0.35201	2.767000	0.95098	0.563000	0.77884	GGG		0.522	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		5	60	1	0	0.248553	1	0.249965	5	60				
BBS10	79738	broad.mit.edu	37	12	76740795	76740795	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:76740795C>A	ENST00000393262.3	-	2	1053	c.970G>T	c.(970-972)Ggg>Tgg	p.G324W		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	324					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|regulation of protein complex assembly (GO:0043254)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell projection (GO:0042995)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						CCATTCACCCCTGCATAATAA	0.368									Bardet-Biedl syndrome																													ENST00000393262.3																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						c.(970-972)Ggg>Tgg		Bardet-Biedl syndrome 10							129.0	113.0	119.0					12																	76740795		2203	4300	6503	SO:0001583	missense	79738	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding	g.chr12:76740795C>A	BC026355	CCDS9014.2	12q21.2	2014-06-17	2006-04-28	2006-04-28	ENSG00000179941	ENSG00000179941		"""Heat Shock Proteins / Chaperonins"""	26291	protein-coding gene	gene with protein product		610148	"""chromosome 12 open reading frame 58"""	C12orf58		16582908	Standard	NM_024685		Approved	FLJ23560	uc001syd.1	Q8TAM1	OTTHUMG00000147352	ENST00000393262.3:c.970G>T	12.37:g.76740795C>A	ENSP00000376946:p.Gly324Trp						p.G324W	NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN			2	1053	-			324					Q96CW2|Q9H5D2	Missense_Mutation	SNP	ENST00000393262.3	37	c.970G>T	CCDS9014.2	.	.	.	.	.	.	.	.	.	.	C	12.11	1.840985	0.32513	.	.	ENSG00000179941	ENST00000393262	D	0.84298	-1.83	4.99	0.248	0.15526	.	0.769311	0.12322	N	0.479203	D	0.85579	0.5729	L	0.44542	1.39	0.09310	N	1	D	0.63880	0.993	P	0.59424	0.857	T	0.75110	-0.3433	10	0.66056	D	0.02	-0.9853	8.2064	0.31458	0.0:0.3113:0.0:0.6887	.	324	Q8TAM1	BBS10_HUMAN	W	324	ENSP00000376946:G324W	ENSP00000376946:G324W	G	-	1	0	BBS10	75264926	0.003000	0.15002	0.240000	0.24138	0.973000	0.67179	-0.121000	0.10643	0.176000	0.19873	-0.145000	0.13849	GGG		0.368	BBS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303983.2	NM_024685		11	22	1	0	3.07112e-06	1	3.46971e-06	11	22				
SPATA31A6	389730	broad.mit.edu	37	9	43624937	43624937	+	Silent	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:43624937G>A	ENST00000332857.6	-	4	3778	c.3750C>T	c.(3748-3750)ttC>ttT	p.F1250F	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	1250					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GTTCTGAGTAGAAGAGGTGCC	0.507																																						ENST00000332857.6																			0											c.(3748-3750)ttC>ttT		SPATA31 subfamily A, member 6							15.0	12.0	13.0					9																	43624937		533	1382	1915	SO:0001819	synonymous_variant	389730							g.chr9:43624937G>A		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.3750C>T	9.37:g.43624937G>A							p.F1250F	NM_001145196.1	NP_001138668.1					4	3778	-									Silent	SNP	ENST00000332857.6	37	c.3750C>T	CCDS47973.1																																																																																				0.507	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		144	248	0	0	0	1	0	144	248				
NCKAP5L	57701	broad.mit.edu	37	12	50189495	50189495	+	Silent	SNP	C	C	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:50189495C>G	ENST00000335999.6	-	8	2349	c.2148G>C	c.(2146-2148)ctG>ctC	p.L716L		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	712										central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CTAGCTGCTCCAGTGGCCTGT	0.647																																						ENST00000335999.6																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						c.(2146-2148)ctG>ctC		NCK-associated protein 5-like							19.0	22.0	21.0					12																	50189495		1966	4138	6104	SO:0001819	synonymous_variant	57701							g.chr12:50189495C>G	AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"""KIAA1602"""	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.2148G>C	12.37:g.50189495C>G							p.L716L	NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN			8	2349	-			712					Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Silent	SNP	ENST00000335999.6	37	c.2148G>C	CCDS41781.2	.	.	.	.	.	.	.	.	.	.	C	0	-2.598583	0.00125	.	.	ENSG00000167566	ENST00000433948	.	.	.	4.21	-7.58	0.01313	.	.	.	.	.	T	0.33556	0.0867	.	.	.	0.46521	D	0.99908	.	.	.	.	.	.	T	0.37079	-0.9721	4	.	.	.	-0.0459	0.9456	0.01365	0.222:0.3378:0.2206:0.2196	.	.	.	.	R	431	.	.	G	-	1	0	NCKAP5L	48475762	0.005000	0.15991	0.000000	0.03702	0.014000	0.08584	-0.359000	0.07632	-2.164000	0.00782	-2.560000	0.00174	GGA		0.647	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2	XM_035497		7	3	0	0	0	1	0	7	3				
PPIL3	53938	broad.mit.edu	37	2	201747114	201747114	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:201747114T>C	ENST00000392283.4	-	4	391	c.123A>G	c.(121-123)atA>atG	p.I41M	PPIL3_ENST00000409449.1_Intron|PPIL3_ENST00000409361.1_Intron|PPIL3_ENST00000465823.1_Intron|PPIL3_ENST00000286175.8_Intron|RNU6-312P_ENST00000364629.1_RNA	NM_130906.2	NP_570981.1	Q9H2H8	PPIL3_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 3	41	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			endometrium(1)|lung(2)	3						TCCTATGAAATATACAGCCAT	0.358																																						ENST00000392283.4																			0				endometrium(1)|lung(2)	3						c.(121-123)atA>atG		peptidylprolyl isomerase (cyclophilin)-like 3							130.0	131.0	131.0					2																	201747114		2203	4300	6503	SO:0001583	missense	53938				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity|protein binding	g.chr2:201747114T>C	AF251049	CCDS2332.1, CCDS2333.1	2q33.1	2008-02-05			ENSG00000240344	ENSG00000240344			9262	protein-coding gene	gene with protein product	"""Cyclophilin J"""	615811				11435694	Standard	NM_032472		Approved	CyPJ	uc002uwi.3	Q9H2H8	OTTHUMG00000132782	ENST00000392283.4:c.123A>G	2.37:g.201747114T>C	ENSP00000376107:p.Ile41Met					PPIL3_ENST00000465823.1_Intron|PPIL3_ENST00000409361.1_Intron|PPIL3_ENST00000409449.1_Intron|PPIL3_ENST00000286175.8_Intron	p.I41M	NM_130906.2	NP_570981.1	Q9H2H8	PPIL3_HUMAN			4	391	-			41			PPIase cyclophilin-type.		Q86WF9|Q96IA9|Q9BXZ1	Missense_Mutation	SNP	ENST00000392283.4	37	c.123A>G	CCDS2333.1	.	.	.	.	.	.	.	.	.	.	T	14.71	2.615752	0.46631	.	.	ENSG00000240344	ENST00000392283;ENST00000409264;ENST00000457063	T;T;T	0.23552	1.9;1.9;1.9	6.03	1.08	0.20341	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);Peptidyl-prolyl cis-trans isomerase, cyclophilin-type, conserved site (1);	.	.	.	.	T	0.32912	0.0845	M	0.85197	2.74	0.80722	D	1	B	0.25850	0.136	B	0.38194	0.267	T	0.26849	-1.0091	9	0.62326	D	0.03	.	0.8941	0.01260	0.2217:0.2591:0.1144:0.4049	.	41	Q9H2H8	PPIL3_HUMAN	M	41;60;41	ENSP00000376107:I41M;ENSP00000386893:I60M;ENSP00000401196:I41M	ENSP00000376107:I41M	I	-	3	3	PPIL3	201455359	0.988000	0.35896	0.997000	0.53966	0.990000	0.78478	0.101000	0.15251	-0.039000	0.13602	0.533000	0.62120	ATA		0.358	PPIL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256190.3			45	46	0	0	0	1	0	45	46				
SLC1A6	6511	broad.mit.edu	37	19	15072888	15072888	+	Silent	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:15072888G>A	ENST00000221742.3	-	5	868	c.861C>T	c.(859-861)caC>caT	p.H287H	SLC1A6_ENST00000544886.2_Silent_p.H287H|SLC1A6_ENST00000600144.1_Silent_p.H287H|SLC1A6_ENST00000430939.2_Silent_p.H223H|SLC1A6_ENST00000598504.1_Silent_p.H287H	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	287					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						CTCTGCCCTTGTGTTTCATGC	0.577																																						ENST00000598504.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(859-861)caC>caT		solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	L-Glutamic Acid(DB00142)						105.0	97.0	100.0					19																	15072888		2203	4300	6503	SO:0001819	synonymous_variant	6511				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr19:15072888G>A		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.861C>T	19.37:g.15072888G>A						SLC1A6_ENST00000600144.1_Silent_p.H287H|SLC1A6_ENST00000221742.3_Silent_p.H287H|SLC1A6_ENST00000544886.2_Silent_p.H287H|SLC1A6_ENST00000430939.2_Silent_p.H223H	p.H287H	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN			8	2220	-			287					Q8N753	Silent	SNP	ENST00000221742.3	37	c.861C>T	CCDS12321.1																																																																																				0.577	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		34	62	0	0	0	1	0	34	62				
ADCY8	114	broad.mit.edu	37	8	132052173	132052173	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr8:132052173G>A	ENST00000286355.5	-	1	2499	c.407C>T	c.(406-408)cCt>cTt	p.P136L	ADCY8_ENST00000377928.3_Missense_Mutation_p.P136L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	136					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)			CGAGTTGCTAGGGGCACAGTC	0.612										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.(406-408)cCt>cTt		adenylate cyclase 8 (brain)							16.0	15.0	15.0					8																	132052173		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.chr8:132052173G>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.407C>T	8.37:g.132052173G>A	ENSP00000286355:p.Pro136Leu	HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Missense_Mutation_p.P136L	p.P136L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		1	2499	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		136						Missense_Mutation	SNP	ENST00000286355.5	37	c.407C>T	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.819200	0.50633	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.62788	-0.0;-0.0	5.09	5.09	0.68999	.	0.075397	0.53938	D	0.000056	T	0.64405	0.2595	L	0.36672	1.1	0.58432	D	0.99999	D;D	0.59357	0.985;0.985	P;P	0.51974	0.686;0.686	T	0.67569	-0.5637	10	0.56958	D	0.05	.	17.0567	0.86535	0.0:0.0:1.0:0.0	.	136;136	E7EVL1;P40145	.;ADCY8_HUMAN	L	136	ENSP00000286355:P136L;ENSP00000367161:P136L	ENSP00000286355:P136L	P	-	2	0	ADCY8	132121355	1.000000	0.71417	0.998000	0.56505	0.939000	0.58152	6.000000	0.70678	2.391000	0.81399	0.462000	0.41574	CCT		0.612	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			6	6	0	0	0	1	0	6	6				
CDH8	1006	broad.mit.edu	37	16	61935290	61935290	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr16:61935290C>A	ENST00000577390.1	-	3	1294	c.340G>T	c.(340-342)Gta>Tta	p.V114L	CDH8_ENST00000577730.1_Missense_Mutation_p.V114L|CDH8_ENST00000299345.6_Missense_Mutation_p.V114L|CDH8_ENST00000584337.1_Missense_Mutation_p.V114L	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	114	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TCTCCAGTTACATCATTTATT	0.423																																						ENST00000577390.1																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(340-342)Gta>Tta		cadherin 8, type 2							119.0	115.0	117.0					16																	61935290		2203	4300	6503	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61935290C>A	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.340G>T	16.37:g.61935290C>A	ENSP00000462701:p.Val114Leu					CDH8_ENST00000299345.6_Missense_Mutation_p.V114L|CDH8_ENST00000584337.1_Missense_Mutation_p.V114L|CDH8_ENST00000577730.1_Missense_Mutation_p.V114L	p.V114L	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	3	1294	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	114			Cadherin 1.		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.340G>T	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.965732	0.34659	.	.	ENSG00000150394	ENST00000299345	T	0.50813	0.73	6.17	-1.57	0.08506	Cadherin (5);Cadherin-like (1);	0.685780	0.15091	N	0.281070	T	0.20373	0.0490	N	0.05124	-0.11	0.20074	N	0.999939	B	0.02656	0.0	B	0.04013	0.001	T	0.17992	-1.0351	10	0.23302	T	0.38	.	6.9745	0.24666	0.0:0.2166:0.1309:0.6525	.	114	P55286	CADH8_HUMAN	L	114	ENSP00000299345:V114L	ENSP00000299345:V114L	V	-	1	0	CDH8	60492791	0.342000	0.24809	0.973000	0.42090	0.998000	0.95712	0.221000	0.17680	-0.124000	0.11724	0.655000	0.94253	GTA		0.423	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		27	33	1	0	4.72057e-08	1	5.58268e-08	27	33				
CAPZA3	93661	broad.mit.edu	37	12	18891436	18891436	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:18891436G>T	ENST00000317658.3	+	1	392	c.234G>T	c.(232-234)atG>atT	p.M78I	PLCZ1_ENST00000539875.1_5'Flank|PLCZ1_ENST00000266505.7_5'Flank|PLCZ1_ENST00000447925.2_5'Flank|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000435379.1_5'Flank	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	78					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cortical cytoskeleton (GO:0030863)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|nucleus (GO:0005634)|WASH complex (GO:0071203)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				ACAATGTAATGGGCGACTACC	0.423																																						ENST00000317658.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19						c.(232-234)atG>atT		capping protein (actin filament) muscle Z-line, alpha 3							106.0	96.0	100.0					12																	18891436		2203	4300	6503	SO:0001583	missense	93661				actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding	g.chr12:18891436G>T	AB053259	CCDS8681.1	12p12.3	2008-02-05			ENSG00000177938	ENSG00000177938			24205	protein-coding gene	gene with protein product		608722				12029070	Standard	NM_033328		Approved	Gsg3, CAPPA3	uc001rdy.3	Q96KX2	OTTHUMG00000169001	ENST00000317658.3:c.234G>T	12.37:g.18891436G>T	ENSP00000326238:p.Met78Ile						p.M78I	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN			1	392	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)	78					Q969J0	Missense_Mutation	SNP	ENST00000317658.3	37	c.234G>T	CCDS8681.1	.	.	.	.	.	.	.	.	.	.	G	6.969	0.548761	0.13312	.	.	ENSG00000177938	ENST00000317658	.	.	.	4.39	2.41	0.29592	.	0.354656	0.25804	N	0.028196	T	0.23727	0.0574	N	0.19112	0.55	0.30412	N	0.77899	B	0.02656	0.0	B	0.01281	0.0	T	0.10776	-1.0615	9	0.52906	T	0.07	-1.9089	4.8557	0.13557	0.1035:0.0:0.4725:0.424	.	78	Q96KX2	CAZA3_HUMAN	I	78	.	ENSP00000326238:M78I	M	+	3	0	CAPZA3	18782703	0.999000	0.42202	0.654000	0.29608	0.600000	0.36913	0.543000	0.23237	0.393000	0.25203	0.462000	0.41574	ATG		0.423	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401902.1	NM_033328		22	37	1	0	1.28384e-07	1	1.50158e-07	22	37				
EGR2	1959	broad.mit.edu	37	10	64573804	64573804	+	Silent	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr10:64573804G>A	ENST00000242480.3	-	2	919	c.594C>T	c.(592-594)tcC>tcT	p.S198S	EGR2_ENST00000439032.1_Silent_p.S198S|EGR2_ENST00000411732.1_Silent_p.S148S|EGR2_ENST00000493899.2_5'Flank	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	198					brain development (GO:0007420)|brain segmentation (GO:0035284)|cell death (GO:0008219)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|facial nerve structural organization (GO:0021612)|fat cell differentiation (GO:0045444)|learning or memory (GO:0007611)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein sumoylation (GO:0016925)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ossification (GO:0030278)|response to insulin (GO:0032868)|rhombomere 3 formation (GO:0021660)|rhombomere 5 formation (GO:0021666)|rhythmic behavior (GO:0007622)|Schwann cell differentiation (GO:0014037)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					AGGCCAGAGAGGAAGAGGTGG	0.592																																						ENST00000242480.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36						c.(592-594)tcC>tcT		early growth response 2							99.0	94.0	96.0					10																	64573804		2203	4300	6503	SO:0001819	synonymous_variant	1959				fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	g.chr10:64573804G>A	BC035625	CCDS7267.1, CCDS44409.1	10q21.1	2014-09-17	2009-04-23		ENSG00000122877	ENSG00000122877		"""Zinc fingers, C2H2-type"""	3239	protein-coding gene	gene with protein product	"""Krox-20 homolog, Drosophila"""	129010	"""early growth response 2 (Krox-20 homolog, Drosophila)"""	KROX20			Standard	NM_000399		Approved		uc001jmi.3	P11161	OTTHUMG00000018308	ENST00000242480.3:c.594C>T	10.37:g.64573804G>A						EGR2_ENST00000439032.1_Silent_p.S198S|EGR2_ENST00000411732.1_Silent_p.S148S	p.S198S	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN			2	919	-	Prostate(12;0.0297)|all_hematologic(501;0.228)		198					B2R724|B3KRD7|Q68CZ5|Q8IV26|Q9UNA6	Silent	SNP	ENST00000242480.3	37	c.594C>T	CCDS7267.1																																																																																				0.592	EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048245.2	NM_000399		62	12	0	0	0	1	0	62	12				
ASB8	140461	broad.mit.edu	37	12	48543613	48543613	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:48543613G>A	ENST00000317697.3	-	4	572	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W	ASB8_ENST00000537754.1_5'UTR|ASB8_ENST00000535055.1_3'UTR|ASB8_ENST00000536953.1_3'UTR|ASB8_ENST00000539528.1_3'UTR|ASB8_ENST00000536549.1_Missense_Mutation_p.R135W	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8	135					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						AGGAGAGCCCGCACACACTCA	0.527																																						ENST00000317697.3																			0				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						c.(403-405)Cgg>Tgg		ankyrin repeat and SOCS box containing 8							74.0	65.0	68.0					12																	48543613		2203	4300	6503	SO:0001583	missense	140461				intracellular signal transduction	cytoplasm|nucleus		g.chr12:48543613G>A	AK024908	CCDS8761.1	12q13.12	2013-01-10	2011-01-25			ENSG00000177981		"""Ankyrin repeat domain containing"""	17183	protein-coding gene	gene with protein product		615053	"""ankyrin repeat and SOCS box-containing 8"""			12076535	Standard	NM_024095		Approved	MGC5540, FLJ21255	uc001rrh.3	Q9H765		ENST00000317697.3:c.403C>T	12.37:g.48543613G>A	ENSP00000320893:p.Arg135Trp					ASB8_ENST00000537754.1_5'UTR|ASB8_ENST00000536953.1_3'UTR|ASB8_ENST00000536549.1_Missense_Mutation_p.R135W|ASB8_ENST00000535055.1_3'UTR|ASB8_ENST00000539528.1_3'UTR	p.R135W	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN			4	572	-			135					A8K1P2|Q547Q2	Missense_Mutation	SNP	ENST00000317697.3	37	c.403C>T	CCDS8761.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.777296	0.70107	.	.	ENSG00000177981	ENST00000317697;ENST00000536549	T;T	0.66815	-0.23;-0.23	5.05	3.09	0.35607	Ankyrin repeat-containing domain (4);	0.108843	0.64402	D	0.000011	T	0.78923	0.4360	M	0.86573	2.825	0.80722	D	1	D	0.67145	0.996	P	0.54815	0.761	D	0.84401	0.0560	10	0.87932	D	0	-13.8627	14.1986	0.65686	0.0:0.0:0.7318:0.2682	.	135	Q9H765	ASB8_HUMAN	W	135	ENSP00000320893:R135W;ENSP00000445622:R135W	ENSP00000320893:R135W	R	-	1	2	ASB8	46829880	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.878000	0.56130	1.261000	0.44149	0.561000	0.74099	CGG		0.527	ASB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396497.1			24	24	0	0	0	1	0	24	24				
IL9R	3581	broad.mit.edu	37	X	155234999	155234999	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chrX:155234999T>A	ENST00000244174.5	+	6	815	c.636T>A	c.(634-636)ttT>ttA	p.F212L	IL9R_ENST00000369423.2_Missense_Mutation_p.F247L|IL9R_ENST00000540897.1_Missense_Mutation_p.F237L|IL9R_ENST00000424344.3_Missense_Mutation_p.F191L	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	212	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTGAAGCCTTTGAGCTGGACC	0.587																																						ENST00000424344.3																			0				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23						c.(571-573)ttT>ttA		interleukin 9 receptor							118.0	107.0	111.0					X																	155234999		2203	4296	6499	SO:0001583	missense	3581				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity	g.chrX:155234999T>A	M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"""Pseudoautosomal regions / PAR2"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.636T>A	X.37:g.155234999T>A	ENSP00000244174:p.Phe212Leu					IL9R_ENST00000244174.5_Missense_Mutation_p.F212L|IL9R_ENST00000540897.1_Missense_Mutation_p.F237L|IL9R_ENST00000369423.2_Missense_Mutation_p.F247L	p.F191L			Q01113	IL9R_HUMAN			7	940	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		212			Fibronectin type-III.		B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	SNP	ENST00000244174.5	37	c.573T>A	CCDS14771.4	.	.	.	.	.	.	.	.	.	.	.	6.690	0.495992	0.12762	.	.	ENSG00000124334	ENST00000244174;ENST00000424344;ENST00000455739;ENST00000369423;ENST00000540897	T;T;T;T	0.21031	3.16;3.16;2.03;2.03	1.29	-2.59	0.06209	Fibronectin, type III (1);Immunoglobulin-like fold (1);	1.739380	0.02731	N	0.115134	T	0.08626	0.0214	.	.	.	0.09310	N	1	B;B;B	0.28850	0.032;0.005;0.225	B;B;B	0.24269	0.008;0.004;0.052	T	0.10132	-1.0643	9	0.11182	T	0.66	-27.3314	2.0893	0.03653	0.2507:0.3361:0.0:0.4132	.	191;212;247	F5H3Z0;Q01113;B9ZVT0	.;IL9R_HUMAN;.	L	212;191;191;247;237	ENSP00000244174:F212L;ENSP00000388918:F191L;ENSP00000358431:F247L;ENSP00000438112:F237L	ENSP00000244174:F212L	F	+	3	2	IL9R	154888193	0.000000	0.05858	0.013000	0.15412	0.376000	0.30014	-4.254000	0.00265	-1.177000	0.02744	-0.812000	0.03155	TTT		0.587	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058981.1	NM_002186		14	8	0	0	0	1	0	14	8				
CSMD3	114788	broad.mit.edu	37	8	113668482	113668482	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr8:113668482G>A	ENST00000297405.5	-	18	3149	c.2905C>T	c.(2905-2907)Caa>Taa	p.Q969*	CSMD3_ENST00000455883.2_Nonsense_Mutation_p.Q865*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.Q969*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.Q929*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	969	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGGGGCACTTGGGTGCCATTG	0.358										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.(2905-2907)Caa>Taa		CUB and Sushi multiple domains 3							70.0	77.0	75.0					8																	113668482		2203	4300	6503	SO:0001587	stop_gained	114788					integral to membrane|plasma membrane		g.chr8:113668482G>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.2905C>T	8.37:g.113668482G>A	ENSP00000297405:p.Gln969*	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Nonsense_Mutation_p.Q969*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.Q865*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.Q929*	p.Q969*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			18	3149	-			969			CUB 5.		Q96PZ3	Nonsense_Mutation	SNP	ENST00000297405.5	37	c.2905C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	44	10.532231	0.99422	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	4.95	4.95	0.65309	.	0.083257	0.48767	D	0.000177	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	18.5578	0.91091	0.0:0.0:1.0:0.0	.	.	.	.	X	929;969;309;865;969	.	ENSP00000297405:Q969X	Q	-	1	0	CSMD3	113737658	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	9.813000	0.99286	2.452000	0.82932	0.460000	0.39030	CAA		0.358	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		15	44	0	0	0	1	0	15	44				
OR5F1	338674	broad.mit.edu	37	11	55761628	55761628	+	Silent	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:55761628G>C	ENST00000278409.1	-	1	473	c.474C>G	c.(472-474)gtC>gtG	p.V158V		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	158					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					GGCTTGTGTTGACCATGAAGT	0.498																																						ENST00000278409.1																			0				endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58						c.(472-474)gtC>gtG		olfactory receptor, family 5, subfamily F, member 1							62.0	59.0	60.0					11																	55761628		2201	4296	6497	SO:0001819	synonymous_variant	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761628G>C	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.474C>G	11.37:g.55761628G>C							p.V158V	NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN			1	473	-	Esophageal squamous(21;0.00448)		158					Q495D1|Q6IFB9	Silent	SNP	ENST00000278409.1	37	c.474C>G	CCDS31515.1																																																																																				0.498	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		22	37	0	0	0	1	0	22	37				
RDX	5962	broad.mit.edu	37	11	110104001	110104001	+	Silent	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:110104001G>C	ENST00000343115.4	-	13	1867	c.1548C>G	c.(1546-1548)acC>acG	p.T516T	RDX_ENST00000528900.1_Silent_p.T169T|RDX_ENST00000544551.1_Silent_p.T380T|RDX_ENST00000528498.1_Silent_p.T516T|RDX_ENST00000530301.1_Intron|RDX_ENST00000405097.1_Silent_p.T516T	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	516	Glu-rich.				actin filament capping (GO:0051693)|apical protein localization (GO:0045176)|establishment of endothelial barrier (GO:0061028)|microvillus assembly (GO:0030033)|positive regulation of gene expression (GO:0010628)	apical part of cell (GO:0045177)|cell tip (GO:0051286)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stereocilium (GO:0032420)|T-tubule (GO:0030315)	poly(A) RNA binding (GO:0044822)	p.T516T(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		TCTGTGTTTCGGTTACACGTT	0.363																																					Esophageal Squamous(55;25 1062 11040 28755 44273)	ENST00000343115.4																			1	Substitution - coding silent(1)	p.T516T(1)	lung(1)	endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18						c.(1546-1548)acC>acG		radixin							251.0	229.0	237.0					11																	110104001		2201	4298	6499	SO:0001819	synonymous_variant	5962				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding	g.chr11:110104001G>C	BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710			9944	protein-coding gene	gene with protein product		179410	"""deafness, autosomal recessive 24"""	DFNB24		8486357, 17226784	Standard	NM_001260492		Approved		uc031qdy.1	P35241		ENST00000343115.4:c.1548C>G	11.37:g.110104001G>C						RDX_ENST00000544551.1_Silent_p.T380T|RDX_ENST00000528900.1_Silent_p.T169T|RDX_ENST00000530301.1_Intron|RDX_ENST00000405097.1_Silent_p.T516T|RDX_ENST00000528498.1_Silent_p.T516T	p.T516T	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)	13	1867	-		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	516			Glu-rich.		A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Silent	SNP	ENST00000343115.4	37	c.1548C>G	CCDS8343.1																																																																																				0.363	RDX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390535.2	NM_002906		59	91	0	0	0	1	0	59	91				
XIRP2	129446	broad.mit.edu	37	2	168106940	168106940	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:168106940C>G	ENST00000409195.1	+	9	9127	c.9038C>G	c.(9037-9039)aCa>aGa	p.T3013R	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.T2791R|XIRP2_ENST00000295237.9_Missense_Mutation_p.T3013R|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2838				T -> A (in Ref. 8; CAD91154). {ECO:0000305}.	actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAAGAAATAACACATATTAAA	0.348																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(9037-9039)aCa>aGa		xin actin-binding repeat containing 2							65.0	64.0	64.0					2																	168106940		1832	4069	5901	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168106940C>G	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.9038C>G	2.37:g.168106940C>G	ENSP00000386840:p.Thr3013Arg					XIRP2_ENST00000295237.9_Missense_Mutation_p.T3013R|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.T2791R|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron	p.T3013R	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	9127	+			2838	T -> A (in Ref. 8; CAD91154).				A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.9038C>G	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.537619	0.27475	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02763	4.17;4.17;4.17	5.88	0.236	0.15471	.	0.660407	0.15941	N	0.237190	T	0.04227	0.0117	M	0.62723	1.935	0.09310	N	0.999999	P;D;P	0.53151	0.93;0.958;0.603	B;B;B	0.42422	0.216;0.387;0.295	T	0.38650	-0.9651	10	0.38643	T	0.18	1.2728	10.1766	0.42941	0.0:0.4951:0.0:0.5049	.	2838;2838;2791	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	R	3013;3013;2791;427	ENSP00000386840:T3013R;ENSP00000295237:T3013R;ENSP00000387255:T2791R	ENSP00000295237:T3013R	T	+	2	0	XIRP2	167815186	0.000000	0.05858	0.731000	0.30826	0.884000	0.51177	-0.121000	0.10643	0.062000	0.16340	0.557000	0.71058	ACA		0.348	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		28	54	0	0	0	1	0	28	54				
PPHLN1	51535	broad.mit.edu	37	12	42745757	42745757	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:42745757G>C	ENST00000395568.2	+	3	227	c.143G>C	c.(142-144)aGc>aCc	p.S48T	PPHLN1_ENST00000549190.1_Missense_Mutation_p.S66T|PPHLN1_ENST00000358314.7_Missense_Mutation_p.S48T|PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000550535.1_3'UTR|PPHLN1_ENST00000449194.2_Missense_Mutation_p.S48T|PPHLN1_ENST00000432191.2_Intron|PPHLN1_ENST00000552761.1_Intron|PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000395580.3_Missense_Mutation_p.S55T|PPHLN1_ENST00000337898.6_Intron	NM_016488.6	NP_057572.5	Q8NEY8	PPHLN_HUMAN	periphilin 1	48					keratinization (GO:0031424)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		GGTGAAGGAAGCTACAATAGA	0.403																																						ENST00000395568.2																			0				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(142-144)aGc>aCc		periphilin 1							95.0	88.0	91.0					12																	42745757		2203	4300	6503	SO:0001583	missense	51535				keratinization	cytoplasm|nucleus		g.chr12:42745757G>C	AY157850	CCDS8741.1, CCDS31777.1, CCDS41773.1, CCDS44860.1, CCDS44861.1, CCDS55817.1	12q12	2006-10-24				ENSG00000134283			19369	protein-coding gene	gene with protein product		608150					Standard	NM_016488		Approved		uc001rng.1	Q8NEY8		ENST00000395568.2:c.143G>C	12.37:g.42745757G>C	ENSP00000378935:p.Ser48Thr					PPHLN1_ENST00000449194.2_Missense_Mutation_p.S48T|PPHLN1_ENST00000552761.1_Intron|PPHLN1_ENST00000550535.1_3'UTR|PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000358314.7_Missense_Mutation_p.S48T|PPHLN1_ENST00000432191.2_Intron|PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000549190.1_Missense_Mutation_p.S66T|PPHLN1_ENST00000395580.3_Missense_Mutation_p.S55T|PPHLN1_ENST00000337898.6_Intron	p.S48T	NM_016488.6	NP_057572.5	Q8NEY8	PPHLN_HUMAN		GBM - Glioblastoma multiforme(48;0.0875)	3	227	+	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)	48					E9PAX8|Q86YT2|Q8IXN3|Q8TB09|Q96NB9|Q9NXL4|Q9P0P6|Q9P0R9	Missense_Mutation	SNP	ENST00000395568.2	37	c.143G>C	CCDS31777.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.090992	0.36855	.	.	ENSG00000134283	ENST00000549190;ENST00000395580;ENST00000358314;ENST00000395568;ENST00000449194;ENST00000546750;ENST00000547847;ENST00000551658	.	.	.	6.17	5.26	0.73747	.	0.318734	0.33875	N	0.004470	T	0.42494	0.1205	L	0.40543	1.245	0.80722	D	1	B;B;B;B;B	0.29716	0.255;0.006;0.01;0.034;0.066	B;B;B;B;B	0.24394	0.053;0.014;0.022;0.036;0.036	T	0.27123	-1.0083	9	0.09843	T	0.71	-0.8917	10.3508	0.43934	0.1594:0.0:0.8406:0.0	.	48;48;48;55;66	Q8NEY8;E9PAX8;Q8NEY8-8;Q8NEY8-2;F8W0Q9	PPHLN_HUMAN;.;.;.;.	T	66;55;48;48;48;55;48;36	.	ENSP00000351066:S48T	S	+	2	0	PPHLN1	41032024	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.739000	0.26173	1.560000	0.49568	0.655000	0.94253	AGC		0.403	PPHLN1-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404047.1	NM_201515		20	18	0	0	0	1	0	20	18				
EP300	2033	broad.mit.edu	37	22	41556727	41556727	+	Splice_Site	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr22:41556727G>T	ENST00000263253.7	+	20	4890		c.e20+1			NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300						apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.Y1198_L1243del(1)|p.?(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AGCCTCAAACGTAAGTAACTG	0.408			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		2	Unknown(1)|Deletion - In frame(1)	p.Y1198_L1243del(1)|p.?(1)	breast(1)|pancreas(1)	NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.e20+1		E1A binding protein p300							99.0	82.0	88.0					22																	41556727		2203	4300	6503	SO:0001630	splice_region_variant	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41556727G>T	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.3671+1G>T	22.37:g.41556727G>T								NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			20	4890	+								B1AKC2	Splice_Site	SNP	ENST00000263253.7	37		CCDS14010.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669339	0.88348	.	.	ENSG00000100393	ENST00000263253	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4278	0.94751	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EP300	39886673	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.595000	0.87683	0.557000	0.71058	.		0.408	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429	Intron	5	22	1	0	0.000602214	1	0.00064732	5	22				
DYNC1I1	1780	broad.mit.edu	37	7	95726843	95726843	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:95726843G>C	ENST00000324972.6	+	17	2069	c.1876G>C	c.(1876-1878)Gtg>Ctg	p.V626L	DYNC1I1_ENST00000359388.4_Missense_Mutation_p.V589L|DYNC1I1_ENST00000537881.1_Intron|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.V609L|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.V606L|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.V609L	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	626					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CAGGACCCTTGTGGAAATTCG	0.483																																						ENST00000324972.6																			0				NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54						c.(1876-1878)Gtg>Ctg		dynein, cytoplasmic 1, intermediate chain 1							143.0	132.0	136.0					7																	95726843		2203	4300	6503	SO:0001583	missense	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95726843G>C	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2963	protein-coding gene	gene with protein product		603772	"""dynein, cytoplasmic, intermediate polypeptide 1"""	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.1876G>C	7.37:g.95726843G>C	ENSP00000320130:p.Val626Leu					DYNC1I1_ENST00000457059.1_Missense_Mutation_p.V609L|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.V606L|DYNC1I1_ENST00000537881.1_Intron|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.V589L|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.V609L	p.V626L	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		17	2069	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		626					B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Missense_Mutation	SNP	ENST00000324972.6	37	c.1876G>C	CCDS5644.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.470236	0.43942	.	.	ENSG00000158560	ENST00000447467;ENST00000324972;ENST00000437599;ENST00000359388;ENST00000457059	T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52	5.32	4.34	0.51931	.	0.154607	0.56097	D	0.000025	T	0.50905	0.1643	N	0.14661	0.345	0.80722	D	1	B;B;B;B;B	0.06786	0.0;0.001;0.0;0.0;0.0	B;B;B;B;B	0.12837	0.0;0.008;0.005;0.002;0.001	T	0.43147	-0.9409	10	0.23891	T	0.37	-4.7809	10.3667	0.44028	0.1595:0.0:0.8405:0.0	.	609;606;609;626;589	Q7Z6M0;G5E9K1;O14576-2;O14576;O14576-3	.;.;.;DC1I1_HUMAN;.	L	609;626;606;589;609	ENSP00000392337:V609L;ENSP00000320130:V626L;ENSP00000398118:V606L;ENSP00000352348:V589L;ENSP00000412444:V609L	ENSP00000320130:V626L	V	+	1	0	DYNC1I1	95564779	1.000000	0.71417	0.985000	0.45067	0.876000	0.50452	3.720000	0.54933	1.463000	0.47967	0.655000	0.94253	GTG		0.483	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411		21	31	0	0	0	1	0	21	31				
PARP15	165631	broad.mit.edu	37	3	122345754	122345754	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr3:122345754C>A	ENST00000464300.2	+	9	1378	c.1312C>A	c.(1312-1314)Cca>Aca	p.P438T	PARP15_ENST00000310366.4_Missense_Mutation_p.P204T|PARP15_ENST00000493645.1_Intron|PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000483793.1_Intron	NM_001113523.1	NP_001106995.1	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	438	Macro 2. {ECO:0000255|PROSITE- ProRule:PRU00490}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		ACATTCCACCCCATCATTAAA	0.348																																						ENST00000464300.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1312-1314)Cca>Aca		poly (ADP-ribose) polymerase family, member 15							103.0	95.0	98.0					3																	122345754		2203	4300	6503	SO:0001583	missense	165631				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity	g.chr3:122345754C>A	AK097916	CCDS3016.1, CCDS46893.1	3q21	2010-02-16			ENSG00000173200	ENSG00000173200		"""Poly (ADP-ribose) polymerases"""	26876	protein-coding gene	gene with protein product		612066				15273990	Standard	NM_001113523		Approved	FLJ40597, pART7	uc003efm.2	Q460N3	OTTHUMG00000159523	ENST00000464300.2:c.1312C>A	3.37:g.122345754C>A	ENSP00000417214:p.Pro438Thr					PARP15_ENST00000483793.1_Intron|PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000310366.4_Missense_Mutation_p.P204T|PARP15_ENST00000493645.1_Intron	p.P438T	NM_001113523.1	NP_001106995.1	Q460N3	PAR15_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	9	1378	+			416			Macro 2.		J3KR47|Q8N1K3	Missense_Mutation	SNP	ENST00000464300.2	37	c.1312C>A	CCDS46893.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.422281	0.25639	.	.	ENSG00000173200	ENST00000464300;ENST00000542823;ENST00000310366	T;T	0.19532	2.14;2.14	3.54	1.63	0.23807	Appr-1-p processing (1);	.	.	.	.	T	0.13713	0.0332	L	0.39020	1.185	0.09310	N	1	B;B;B	0.25007	0.094;0.116;0.031	B;B;B	0.25759	0.021;0.063;0.028	T	0.30736	-0.9968	9	0.33940	T	0.23	.	2.4464	0.04507	0.193:0.5053:0.1884:0.1134	.	204;185;416	Q460N3-2;F5H8I1;Q460N3	.;.;PAR15_HUMAN	T	438;185;204	ENSP00000417214:P438T;ENSP00000308436:P204T	ENSP00000308436:P204T	P	+	1	0	PARP15	123828444	0.000000	0.05858	0.000000	0.03702	0.321000	0.28281	-0.277000	0.08502	0.172000	0.19760	0.563000	0.77884	CCA		0.348	PARP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355964.2	NM_152615		17	22	1	0	1.99824e-07	1	2.32689e-07	17	22				
USP6NL	9712	broad.mit.edu	37	10	11523903	11523903	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr10:11523903G>A	ENST00000609104.1	-	14	1338	c.944C>T	c.(943-945)tCc>tTc	p.S315F	USP6NL_ENST00000277575.5_Missense_Mutation_p.S332F|USP6NL_ENST00000379237.2_Missense_Mutation_p.S338F	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	315					Golgi organization (GO:0007030)|plasma membrane to endosome transport (GO:0048227)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of Golgi organization (GO:1903358)|retrograde transport, plasma membrane to Golgi (GO:0035526)|virion assembly (GO:0019068)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						TTCTTCCATGGACAATTTCAT	0.328																																						ENST00000379237.1																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						c.(943-945)tCc>tTc		USP6 N-terminal like							26.0	26.0	26.0					10																	11523903		1802	4061	5863	SO:0001583	missense	9712					intracellular	Rab GTPase activator activity	g.chr10:11523903G>A	BC010351	CCDS44357.1, CCDS53492.1	10p13	2013-07-09			ENSG00000148429	ENSG00000148429			16858	protein-coding gene	gene with protein product	"""related to the N terminus of tre"""	605405	"""USP6NL intronic transcript 1 (non-protein coding)"""	USP6NL-IT1		8700515, 8700527, 12399475	Standard	XR_247492		Approved	RNTRE, KIAA0019, TRE2NL, RN-tre	uc001iks.1	Q92738	OTTHUMG00000017672	ENST00000609104.1:c.944C>T	10.37:g.11523903G>A	ENSP00000476462:p.Ser315Phe					USP6NL_ENST00000277575.5_Missense_Mutation_p.S332F	p.S315F	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN			14	1338	-			315					A8KA79|Q15400|Q5VV10|Q7L0K9	Missense_Mutation	SNP	ENST00000609104.1	37	c.944C>T	CCDS53492.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.077848	0.76528	.	.	ENSG00000148429	ENST00000535316;ENST00000277575;ENST00000379237	T;T	0.25749	1.78;1.78	5.39	5.39	0.77823	Rab-GAP/TBC domain (2);	0.247539	0.42548	D	0.000697	T	0.49932	0.1586	M	0.83953	2.67	0.53688	D	0.999977	D;D	0.63880	0.964;0.993	P;P	0.59889	0.809;0.865	T	0.55623	-0.8112	10	0.72032	D	0.01	.	13.9563	0.64150	0.0:0.0:0.8105:0.1895	.	315;332	Q92738;Q92738-2	US6NL_HUMAN;.	F	315;332;315	ENSP00000277575:S332F;ENSP00000368539:S315F	ENSP00000277575:S332F	S	-	2	0	USP6NL	11563909	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.896000	0.69822	2.521000	0.84997	0.467000	0.42956	TCC		0.328	USP6NL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046764.3	NM_014688		7	6	0	0	0	1	0	7	6				
SPATA31E1	286234	broad.mit.edu	37	9	90502408	90502408	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:90502408G>C	ENST00000325643.5	+	4	3072	c.3006G>C	c.(3004-3006)gaG>gaC	p.E1002D		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	1002					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CATGGCTTGAGAGTGAGAGCA	0.587																																						ENST00000325643.5																			0											c.(3004-3006)gaG>gaC		SPATA31 subfamily E, member 1							35.0	38.0	37.0					9																	90502408		2202	4300	6502	SO:0001583	missense	286234							g.chr9:90502408G>C	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.3006G>C	9.37:g.90502408G>C	ENSP00000322640:p.Glu1002Asp						p.E1002D	NM_178828.4	NP_849150.3					4	3072	+								B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	c.3006G>C	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	g	15.29	2.789120	0.49997	.	.	ENSG00000177992	ENST00000325643	T	0.03689	3.84	3.52	3.52	0.40303	.	.	.	.	.	T	0.02193	0.0068	N	0.08118	0	0.09310	N	1	B	0.33044	0.395	B	0.30179	0.112	T	0.48614	-0.9020	9	0.22706	T	0.39	.	10.855	0.46794	0.0:0.0:1.0:0.0	.	1002	Q6ZUB1	CI079_HUMAN	D	1002	ENSP00000322640:E1002D	ENSP00000322640:E1002D	E	+	3	2	C9orf79	89692228	0.003000	0.15002	0.014000	0.15608	0.015000	0.08874	0.940000	0.28992	2.272000	0.75746	0.557000	0.71058	GAG		0.587	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		24	28	0	0	0	1	0	24	28				
FMO3	2328	broad.mit.edu	37	1	171076876	171076876	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:171076876A>G	ENST00000367755.4	+	4	493	c.382A>G	c.(382-384)Acc>Gcc	p.T128A	FMO3_ENST00000392085.2_Missense_Mutation_p.T128A|FMO3_ENST00000542847.1_Missense_Mutation_p.T108A|FMO3_ENST00000538429.1_Missense_Mutation_p.T65A	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	128					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	GTGGGATGTTACCACTGAAAG	0.398																																						ENST00000367755.4																			0				endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31						c.(382-384)Acc>Gcc		flavin containing monooxygenase 3							126.0	126.0	126.0					1																	171076876		2203	4300	6503	SO:0001583	missense	2328				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	g.chr1:171076876A>G	BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.382A>G	1.37:g.171076876A>G	ENSP00000356729:p.Thr128Ala					FMO3_ENST00000392085.2_Missense_Mutation_p.T128A|FMO3_ENST00000538429.1_Missense_Mutation_p.T65A|FMO3_ENST00000542847.1_Missense_Mutation_p.T108A	p.T128A	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN			4	493	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		128					B2R816|Q14854|Q8N5N5	Missense_Mutation	SNP	ENST00000367755.4	37	c.382A>G	CCDS1292.1	.	.	.	.	.	.	.	.	.	.	A	9.734	1.163077	0.21538	.	.	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847;ENST00000538429	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	4.84	1.01	0.19927	.	1.151650	0.06164	N	0.676376	T	0.20333	0.0489	L	0.60957	1.885	0.09310	N	1	B;B;B	0.17667	0.023;0.017;0.0	B;B;B	0.22386	0.019;0.039;0.01	T	0.27191	-1.0081	10	0.37606	T	0.19	-6.6247	2.7301	0.05225	0.3083:0.0:0.4446:0.2471	.	65;108;128	F5H261;F5GZZ8;P31513	.;.;FMO3_HUMAN	A	128;128;108;65	ENSP00000356729:T128A;ENSP00000375935:T128A;ENSP00000444073:T108A;ENSP00000439500:T65A	ENSP00000356729:T128A	T	+	1	0	FMO3	169343500	0.000000	0.05858	0.005000	0.12908	0.163000	0.22366	0.122000	0.15687	0.186000	0.20125	0.482000	0.46254	ACC		0.398	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	NM_006894		29	29	0	0	0	1	0	29	29				
LIMCH1	22998	broad.mit.edu	37	4	41615637	41615637	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:41615637A>G	ENST00000313860.7	+	7	695	c.641A>G	c.(640-642)cAg>cGg	p.Q214R	LIMCH1_ENST00000514096.1_Missense_Mutation_p.Q67R|LIMCH1_ENST00000509638.1_Missense_Mutation_p.Q55R|LIMCH1_ENST00000509277.1_Missense_Mutation_p.Q60R|LIMCH1_ENST00000508501.1_Missense_Mutation_p.Q214R|LIMCH1_ENST00000512820.1_Missense_Mutation_p.Q214R|LIMCH1_ENST00000503057.1_Missense_Mutation_p.Q55R|LIMCH1_ENST00000512946.1_Missense_Mutation_p.Q214R|LIMCH1_ENST00000511496.1_Missense_Mutation_p.Q55R|LIMCH1_ENST00000396595.3_Missense_Mutation_p.Q60R|LIMCH1_ENST00000513024.1_Missense_Mutation_p.Q55R|LIMCH1_ENST00000509454.1_Missense_Mutation_p.Q62R|LIMCH1_ENST00000512632.1_Missense_Mutation_p.Q214R|LIMCH1_ENST00000381753.4_Missense_Mutation_p.Q60R	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	214					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						CGCTCTCGGCAGACGCCTTCA	0.537																																						ENST00000313860.7																			0				central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						c.(640-642)cAg>cGg		LIM and calponin homology domains 1							83.0	76.0	78.0					4																	41615637		2203	4300	6503	SO:0001583	missense	22998				actomyosin structure organization		actin binding|zinc ion binding	g.chr4:41615637A>G	AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.641A>G	4.37:g.41615637A>G	ENSP00000316891:p.Gln214Arg					LIMCH1_ENST00000514096.1_Missense_Mutation_p.Q67R|LIMCH1_ENST00000396595.3_Missense_Mutation_p.Q60R|LIMCH1_ENST00000509454.1_Missense_Mutation_p.Q62R|LIMCH1_ENST00000511496.1_Missense_Mutation_p.Q55R|LIMCH1_ENST00000512632.1_Missense_Mutation_p.Q214R|LIMCH1_ENST00000509277.1_Missense_Mutation_p.Q60R|LIMCH1_ENST00000509638.1_Missense_Mutation_p.Q55R|LIMCH1_ENST00000503057.1_Missense_Mutation_p.Q55R|LIMCH1_ENST00000512820.1_Missense_Mutation_p.Q214R|LIMCH1_ENST00000512946.1_Missense_Mutation_p.Q214R|LIMCH1_ENST00000513024.1_Missense_Mutation_p.Q55R|LIMCH1_ENST00000508501.1_Missense_Mutation_p.Q214R|LIMCH1_ENST00000381753.4_Missense_Mutation_p.Q60R	p.Q214R	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN			7	695	+			214					A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Missense_Mutation	SNP	ENST00000313860.7	37	c.641A>G	CCDS33977.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.3|22.3	4.276482|4.276482	0.80580|0.80580	.|.	.|.	ENSG00000064042|ENSG00000064042	ENST00000513024;ENST00000509638;ENST00000508501;ENST00000512946;ENST00000313860;ENST00000512632;ENST00000512820;ENST00000446625;ENST00000503057;ENST00000511496;ENST00000313875;ENST00000514096;ENST00000509277;ENST00000509454;ENST00000396595;ENST00000381753|ENST00000508466	T;T;T;T;T;T;T;T;T;T;T;T|.	0.49139|.	0.79;1.41;1.41;1.41;0.85;1.42;0.79;0.8;0.8;0.79;0.81;0.8|.	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	0.112616|.	0.64402|.	D|.	0.000006|.	T|T	0.68805|0.68805	0.3041|0.3041	L|L	0.51422|0.51422	1.61|1.61	0.58432|0.58432	D|D	0.999991|0.999991	D;D;D;D;P;D;D;D;D;D;D|.	0.89917|.	0.979;0.983;0.995;0.995;0.763;1.0;0.995;0.997;0.99;0.994;0.958|.	P;P;D;D;B;D;D;D;D;D;D|.	0.85130|.	0.767;0.837;0.92;0.92;0.288;0.997;0.961;0.99;0.962;0.983;0.943|.	T|T	0.66252|0.66252	-0.5970|-0.5970	10|5	0.62326|.	D|.	0.03|.	-19.463|-19.463	16.2375|16.2375	0.82384|0.82384	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	60;214;60;60;62;55;55;214;214;214;214|.	E9PDJ9;D6RD46;Q9UPQ0-9;Q9UPQ0-6;Q6NVB9;G5EA03;Q9UPQ0-5;Q9UPQ0-4;E9PHM7;Q9UPQ0-2;Q9UPQ0|.	.;.;.;.;.;.;.;.;.;.;LIMC1_HUMAN|.	R|G	55;55;214;214;214;214;214;55;55;55;54;67;60;62;60;60|49	ENSP00000425222:Q55R;ENSP00000424825:Q214R;ENSP00000424645:Q214R;ENSP00000316891:Q214R;ENSP00000427045:Q214R;ENSP00000424437:Q214R;ENSP00000425631:Q55R;ENSP00000421242:Q55R;ENSP00000426334:Q67R;ENSP00000422864:Q60R;ENSP00000379840:Q60R;ENSP00000371172:Q60R|.	ENSP00000316891:Q214R|.	Q|R	+|+	2|1	0|2	LIMCH1|LIMCH1	41310394|41310394	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.915000|0.915000	0.54546|0.54546	8.962000|8.962000	0.93254|0.93254	2.222000|2.222000	0.72286|0.72286	0.533000|0.533000	0.62120|0.62120	CAG|AGA		0.537	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2	NM_014988		13	29	0	0	0	1	0	13	29				
CASP8AP2	9994	broad.mit.edu	37	6	90572294	90572294	+	RNA	SNP	A	A	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:90572294A>T	ENST00000551025.1	+	0	2303									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		GGACATCCTGAGAAATATGGT	0.398																																					Colon(187;1656 2025 17045 31481 39901)	ENST00000551025.1																			0				NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51								caspase 8 associated protein 2							153.0	154.0	154.0					6																	90572294		1902	4133	6035			9994				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	g.chr6:90572294A>T	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90572294A>T										Q9UKL3	C8AP2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0953)	0	2303	+		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)							RNA	SNP	ENST00000551025.1	37																																																																																						0.398	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667		70	92	0	0	0	1	0	70	92				
NMRK2	27231	broad.mit.edu	37	19	3942091	3942091	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:3942091C>A	ENST00000168977.2	+	8	803	c.513C>A	c.(511-513)gaC>gaA	p.D171E	NMRK2_ENST00000599576.1_Silent_p.R103R|NMRK2_ENST00000593949.1_Missense_Mutation_p.D176E	NM_170678.2	NP_733778.1	Q9NPI5	NRK2_HUMAN	nicotinamide riboside kinase 2	171					NAD biosynthetic process (GO:0009435)|negative regulation of myoblast differentiation (GO:0045662)	intracellular (GO:0005622)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|ribosylnicotinamide kinase activity (GO:0050262)										TCTACCTGGACGGCATGAAGT	0.637																																						ENST00000168977.2																			0											c.(511-513)gaC>gaA		nicotinamide riboside kinase 2							42.0	43.0	43.0					19																	3942091		2202	4299	6501	SO:0001583	missense	27231							g.chr19:3942091C>A	AF190819	CCDS12115.1, CCDS74259.1	19p13.3	2013-10-28	2012-05-31	2012-05-31	ENSG00000077009	ENSG00000077009			17871	protein-coding gene	gene with protein product	"""muscle-specific beta 1 integrin binding protein"", ""nicotinamide riboside kinase 2"""	608705	"""integrin beta 1 binding protein 3"""	ITGB1BP3		10613898, 15137942	Standard	NM_170678		Approved	MIBP, NRK2	uc002lyz.4	Q9NPI5	OTTHUMG00000181758	ENST00000168977.2:c.513C>A	19.37:g.3942091C>A	ENSP00000168977:p.Asp171Glu					NMRK2_ENST00000593949.1_Missense_Mutation_p.D176E|NMRK2_ENST00000599576.1_Silent_p.R103R	p.D171E	NM_170678.2	NP_733778.1					8	803	+								B7ZKR3|Q52M81|Q9NZK3	Missense_Mutation	SNP	ENST00000168977.2	37	c.513C>A	CCDS12115.1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.257484	0.22965	.	.	ENSG00000077009	ENST00000168977;ENST00000395034	T	0.61510	0.1	3.83	-4.47	0.03525	.	0.000000	0.85682	U	0.000000	T	0.60287	0.2257	L	0.52905	1.665	0.37441	D	0.914405	D;D	0.58620	0.969;0.983	P;P	0.60117	0.869;0.782	T	0.65088	-0.6253	10	0.72032	D	0.01	-18.2733	9.9913	0.41872	0.0:0.2658:0.0:0.7342	.	176;171	B7ZKR3;Q9NPI5	.;NRK2_HUMAN	E	171;127	ENSP00000168977:D171E	ENSP00000168977:D171E	D	+	3	2	ITGB1BP3	3893091	0.277000	0.24220	0.737000	0.30932	0.084000	0.17831	-0.632000	0.05489	-0.754000	0.04715	0.485000	0.47835	GAC		0.637	NMRK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457492.1	NM_014446, NM_170678		23	15	1	0	9.80776e-20	1	1.35271e-19	23	15				
PSG8	440533	broad.mit.edu	37	19	43262387	43262387	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:43262387C>A	ENST00000306511.4	-	3	573	c.476G>T	c.(475-477)aGg>aTg	p.R159M	PSG8_ENST00000401467.2_Intron|PSG8_ENST00000404209.4_Missense_Mutation_p.R159M|PSG8_ENST00000406636.3_Missense_Mutation_p.R37M|PSG8_ENST00000600709.1_5'UTR	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	159	Ig-like C2-type 1.					extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				CATGGCCTCCCTGGGGTTTAA	0.537																																						ENST00000404209.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(475-477)aGg>aTg		pregnancy specific beta-1-glycoprotein 8							183.0	191.0	188.0					19																	43262387		2203	4299	6502	SO:0001583	missense	440533					extracellular region		g.chr19:43262387C>A	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.476G>T	19.37:g.43262387C>A	ENSP00000305005:p.Arg159Met					PSG8_ENST00000406636.3_Missense_Mutation_p.R37M|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000306511.4_Missense_Mutation_p.R159M|PSG8_ENST00000401467.2_Intron	p.R159M	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN			3	572	-		Prostate(69;0.00899)	159			Ig-like C2-type 1.		A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	c.476G>T	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	c	3.307	-0.141561	0.06669	.	.	ENSG00000124467	ENST00000404209;ENST00000292109;ENST00000406636;ENST00000306511	T;T;T	0.11821	2.74;2.74;2.74	1.53	-3.06	0.05379	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.10508	0.0257	L	0.33245	0.995	0.09310	N	1	B;B;B;B	0.30511	0.1;0.282;0.057;0.07	B;B;B;B	0.37198	0.06;0.243;0.126;0.2	T	0.38564	-0.9655	9	0.39692	T	0.17	.	5.9269	0.19118	0.426:0.574:0.0:0.0	.	37;159;159;159	Q9UQ74-2;Q9UQ74;Q9UQ74-3;A5PKV3	.;PSG8_HUMAN;.;.	M	159;34;37;159	ENSP00000385869:R159M;ENSP00000385081:R37M;ENSP00000305005:R159M	ENSP00000292109:R34M	R	-	2	0	PSG8	47954227	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-1.465000	0.02357	-0.853000	0.04136	-0.901000	0.02856	AGG		0.537	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			97	132	1	0	1.39521e-32	1	2.04092e-32	97	132				
IRF2BP1	26145	broad.mit.edu	37	19	46388991	46388991	+	Silent	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:46388991C>A	ENST00000302165.3	-	1	385	c.42G>T	c.(40-42)ctG>ctT	p.L14L		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	14					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)			cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		GCAGGTCGCACAGGTAGCACC	0.716																																						ENST00000302165.3																			0				cervix(1)|kidney(1)|lung(2)	4						c.(40-42)ctG>ctT		interferon regulatory factor 2 binding protein 1							19.0	18.0	18.0					19																	46388991		2178	4266	6444	SO:0001819	synonymous_variant	26145				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr19:46388991C>A	AY278022	CCDS12678.1	19q13.32	2008-02-05							21728	protein-coding gene	gene with protein product		615331				12799427	Standard	NM_015649		Approved	DKFZP434M154, IRF-2BP1	uc002pds.1	Q8IU81		ENST00000302165.3:c.42G>T	19.37:g.46388991C>A							p.L14L	NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)	1	385	-		all_neural(266;0.113)|Ovarian(192;0.127)	14					Q53EL7|Q6DC95|Q9BRZ9|Q9Y4P4	Silent	SNP	ENST00000302165.3	37	c.42G>T	CCDS12678.1																																																																																				0.716	IRF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461683.1	NM_015649		3	22	1	0	1	1	1	3	22				
TBX15	6913	broad.mit.edu	37	1	119474355	119474355	+	Silent	SNP	A	A	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:119474355A>T	ENST00000369429.3	-	2	315	c.306T>A	c.(304-306)ccT>ccA	p.P102P	TBX15_ENST00000207157.3_5'UTR			Q96SF7	TBX15_HUMAN	T-box 15	102					embryonic cranial skeleton morphogenesis (GO:0048701)	Tle3-Aes complex (GO:0070722)	RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CAGCAGGCACAGGGCCTGCAG	0.532																																						ENST00000369429.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37						c.(304-306)ccT>ccA		T-box 15							51.0	46.0	47.0					1																	119474355		2203	4300	6503	SO:0001819	synonymous_variant	6913					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:119474355A>T	AK127536	CCDS30816.1	1p11.1	2008-02-05	2004-10-05		ENSG00000092607	ENSG00000092607		"""T-boxes"""	11594	protein-coding gene	gene with protein product		604127	"""T-box 14"""	TBX14		9693034	Standard	XM_005271162		Approved		uc001ehl.1	Q96SF7	OTTHUMG00000012263	ENST00000369429.3:c.306T>A	1.37:g.119474355A>T						TBX15_ENST00000207157.3_5'UTR	p.P102P			Q96SF7	TBX15_HUMAN		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)	2	315	-	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)	102					Q08E76|Q5JT54|Q5T9S7	Silent	SNP	ENST00000369429.3	37	c.306T>A																																																																																					0.532	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000034351.1	NM_152380		13	8	0	0	0	1	0	13	8				
COQ5	84274	broad.mit.edu	37	12	120947830	120947830	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:120947830T>C	ENST00000288532.6	-	4	711	c.671A>G	c.(670-672)cAc>cGc	p.H224R	COQ5_ENST00000445328.2_Missense_Mutation_p.H150R	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	224					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGATCAATGTGTGTGACATT	0.433																																						ENST00000288532.6																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20						c.(670-672)cAc>cGc		coenzyme Q5 homolog, methyltransferase (S. cerevisiae)							191.0	158.0	169.0					12																	120947830		2203	4300	6503	SO:0001583	missense	84274				ubiquinone biosynthetic process	mitochondrion	methyltransferase activity	g.chr12:120947830T>C	AK057777	CCDS31912.1	12q24.31	2011-09-16	2006-04-04		ENSG00000110871	ENSG00000110871	2.1.1.201		28722	protein-coding gene	gene with protein product	"""2-methoxy-6-polyprenyl-1,4-benzoquinol methylase"""		"""coenzyme Q5 homolog, methyltransferase (yeast)"""				Standard	NM_032314		Approved	MGC4767	uc001tyn.3	Q5HYK3	OTTHUMG00000169375	ENST00000288532.6:c.671A>G	12.37:g.120947830T>C	ENSP00000288532:p.His224Arg					COQ5_ENST00000445328.2_Missense_Mutation_p.H150R	p.H224R	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN			4	711	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		224					B4DEJ4|Q32Q28|Q53HH0|Q96LV1|Q9BSP8	Missense_Mutation	SNP	ENST00000288532.6	37	c.671A>G	CCDS31912.1	.	.	.	.	.	.	.	.	.	.	T	13.09	2.134728	0.37728	.	.	ENSG00000110871	ENST00000288532;ENST00000445328;ENST00000552443;ENST00000547943	T;T;T;T	0.62639	0.01;0.01;0.01;0.98	5.87	5.87	0.94306	.	0.085143	0.85682	D	0.000000	T	0.50939	0.1645	N	0.21194	0.64	0.80722	D	1	B;B	0.27594	0.182;0.051	B;B	0.32022	0.066;0.139	T	0.47142	-0.9140	10	0.25751	T	0.34	.	15.2496	0.73532	0.0:0.0:0.0:1.0	.	150;224	B4DP72;Q5HYK3	.;COQ5_HUMAN	R	224;150;143;174	ENSP00000288532:H224R;ENSP00000401798:H150R;ENSP00000449863:H143R;ENSP00000449874:H174R	ENSP00000288532:H224R	H	-	2	0	COQ5	119432213	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.030000	0.57260	2.237000	0.73441	0.533000	0.62120	CAC		0.433	COQ5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403767.2	NM_032314		22	32	0	0	0	1	0	22	32				
VARS	7407	broad.mit.edu	37	6	31747892	31747892	+	Silent	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:31747892G>A	ENST00000375663.3	-	26	3404	c.2964C>T	c.(2962-2964)cgC>cgT	p.R988R	VWA7_ENST00000375688.4_5'Flank|Y_RNA_ENST00000364685.1_RNA|VWA7_ENST00000375686.3_5'Flank|VWA7_ENST00000467576.1_5'Flank|VWA7_ENST00000447450.1_5'Flank|VARS_ENST00000482996.1_5'Flank	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	988					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	TCAGGCGGCTGCGGATCCAGC	0.662																																						ENST00000375663.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30						c.(2962-2964)cgC>cgT		valyl-tRNA synthetase	L-Valine(DB00161)						46.0	50.0	49.0					6																	31747892		2203	4300	6503	SO:0001819	synonymous_variant	7407				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	g.chr6:31747892G>A	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	12651	protein-coding gene	gene with protein product	"""valine tRNA ligase 1, cytoplasmic"""	192150	"""valyl-tRNA synthetase 2"""	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.2964C>T	6.37:g.31747892G>A							p.R988R	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN			26	3404	-			988					B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Silent	SNP	ENST00000375663.3	37	c.2964C>T	CCDS34412.1																																																																																				0.662	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		26	37	0	0	0	1	0	26	37				
TTN	7273	broad.mit.edu	37	2	179644007	179644007	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:179644007C>A	ENST00000591111.1	-	23	4136	c.3912G>T	c.(3910-3912)gaG>gaT	p.E1304D	RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E1304D|TTN_ENST00000360870.5_Missense_Mutation_p.E1304D|TTN_ENST00000359218.5_Missense_Mutation_p.E1258D|TTN_ENST00000460472.2_Missense_Mutation_p.E1258D|TTN_ENST00000342175.6_Missense_Mutation_p.E1258D|TTN_ENST00000589042.1_Missense_Mutation_p.E1304D			Q8WZ42	TITIN_HUMAN	titin	33501	Ig-like 5.				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)			CACCCATCCCCTCAAGAATTC	0.348																																						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.(3910-3912)gaG>gaT		titin							51.0	54.0	53.0					2																	179644007		2203	4298	6501	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179644007C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.3912G>T	2.37:g.179644007C>A	ENSP00000465570:p.Glu1304Asp					TTN_ENST00000359218.5_Missense_Mutation_p.E1258D|TTN_ENST00000342175.6_Missense_Mutation_p.E1258D|TTN_ENST00000591111.1_Missense_Mutation_p.E1304D|TTN_ENST00000460472.2_Missense_Mutation_p.E1258D|TTN_ENST00000342992.6_Missense_Mutation_p.E1304D|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.E1304D	p.E1304D	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)		23	4136	-			1304			Ig-like 5.		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.3912G>T		.	.	.	.	.	.	.	.	.	.	C	11.50	1.655909	0.29425	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76	5.72	2.59	0.31030	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.48314	0.1493	L	0.52011	1.625	0.23969	N	0.996311	B;B;B;B;P	0.45474	0.275;0.275;0.275;0.434;0.859	B;B;B;B;P	0.48166	0.107;0.107;0.107;0.182;0.569	T	0.35699	-0.9778	9	0.87932	D	0	.	8.4564	0.32901	0.0:0.5255:0.0:0.4745	.	1258;1258;1258;1304;1304	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	D	1304;1258;1258;1258;1258;1304	ENSP00000343764:E1304D;ENSP00000434586:E1258D;ENSP00000340554:E1258D;ENSP00000352154:E1258D;ENSP00000354117:E1304D	ENSP00000340554:E1258D	E	-	3	2	TTN	179352252	0.958000	0.32768	1.000000	0.80357	0.998000	0.95712	0.149000	0.16243	0.204000	0.20548	0.655000	0.94253	GAG		0.348	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		13	26	1	0	0.000151284	1	0.000165975	13	26				
MDN1	23195	broad.mit.edu	37	6	90453420	90453420	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:90453420T>A	ENST00000369393.3	-	30	4307	c.4192A>T	c.(4192-4194)Act>Tct	p.T1398S	MDN1_ENST00000428876.1_Missense_Mutation_p.T1398S			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1398					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TGACAGATAGTAGTTTTCCCA	0.463																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(4192-4194)Act>Tct		MDN1, midasin homolog (yeast)							113.0	109.0	110.0					6																	90453420		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90453420T>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.4192A>T	6.37:g.90453420T>A	ENSP00000358400:p.Thr1398Ser					MDN1_ENST00000428876.1_Missense_Mutation_p.T1398S	p.T1398S			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	30	4307	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	1398					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.4192A>T	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	T	18.25	3.582544	0.65992	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.39592	1.07;1.07	5.2	5.2	0.72013	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.108239	0.64402	N	0.000007	T	0.32164	0.0820	L	0.33624	1.015	0.54753	D	0.999986	P	0.49185	0.92	P	0.51297	0.665	T	0.07028	-1.0794	10	0.39692	T	0.17	.	15.0816	0.72119	0.0:0.0:0.0:1.0	.	1398	Q9NU22	MDN1_HUMAN	S	1398	ENSP00000358400:T1398S;ENSP00000413970:T1398S	ENSP00000358400:T1398S	T	-	1	0	MDN1	90510141	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	7.899000	0.87370	1.961000	0.56991	0.460000	0.39030	ACT		0.463	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			28	61	0	0	0	1	0	28	61				
RAB3C	115827	broad.mit.edu	37	5	58120944	58120944	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr5:58120944C>T	ENST00000282878.4	+	4	620	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W		NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	151					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		GGAAGACGAGCGGGTCATCTC	0.363																																						ENST00000282878.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21						c.(451-453)Cgg>Tgg		RAB3C, member RAS oncogene family							103.0	93.0	96.0					5																	58120944		2203	4300	6503	SO:0001583	missense	115827				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr5:58120944C>T	AY026936	CCDS3976.1	5q13	2008-02-05			ENSG00000152932	ENSG00000152932		"""RAB, member RAS oncogene"""	30269	protein-coding gene	gene with protein product		612829				12296628	Standard	NM_138453		Approved		uc003jrp.3	Q96E17	OTTHUMG00000097053	ENST00000282878.4:c.451C>T	5.37:g.58120944C>T	ENSP00000282878:p.Arg151Trp						p.R151W	NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)	4	620	+		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)	151						Missense_Mutation	SNP	ENST00000282878.4	37	c.451C>T	CCDS3976.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.504531	0.85176	.	.	ENSG00000152932	ENST00000282878	T	0.80653	-1.4	6.16	6.16	0.99307	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000018	D	0.92753	0.7696	H	0.95816	3.725	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94022	0.7293	10	0.87932	D	0	-22.0607	15.5636	0.76269	0.1378:0.8622:0.0:0.0	.	151	Q96E17	RAB3C_HUMAN	W	151	ENSP00000282878:R151W	ENSP00000282878:R151W	R	+	1	2	RAB3C	58156701	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.542000	0.45744	2.937000	0.99478	0.650000	0.86243	CGG		0.363	RAB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214156.2	NM_138453		25	4	0	0	0	1	0	25	4				
DMD	1756	broad.mit.edu	37	X	32429885	32429885	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chrX:32429885A>C	ENST00000357033.4	-	30	4423	c.4217T>G	c.(4216-4218)aTg>aGg	p.M1406R	DMD_ENST00000378677.2_Missense_Mutation_p.M1402R	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	1406					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)				TTCCTGAGGCATTTGAGCTGC	0.403																																						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.(4216-4218)aTg>aGg		dystrophin							118.0	86.0	97.0					X																	32429885		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:32429885A>C	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.4217T>G	X.37:g.32429885A>C	ENSP00000354923:p.Met1406Arg					DMD_ENST00000378677.2_Missense_Mutation_p.M1402R	p.M1406R	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			30	4423	-		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)	1406					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.4217T>G	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	A	14.76	2.632414	0.46944	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.23348	1.91;1.91	5.68	5.68	0.88126	.	0.172788	0.26650	U	0.023205	T	0.20780	0.0500	N	0.19112	0.55	0.80722	D	1	B;B;B;B;B	0.29716	0.255;0.195;0.165;0.165;0.165	B;B;B;B;B	0.32393	0.145;0.084;0.069;0.069;0.043	T	0.05632	-1.0873	10	0.87932	D	0	.	14.9143	0.70781	1.0:0.0:0.0:0.0	.	1398;1406;1402;65;62	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	R	1398;65;62;1402;1406;1406;1283	ENSP00000367948:M1402R;ENSP00000354923:M1406R	ENSP00000354923:M1406R	M	-	2	0	DMD	32339806	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.818000	0.69236	1.904000	0.55121	0.412000	0.27726	ATG		0.403	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		16	14	0	0	0	1	0	16	14				
MX1	4599	broad.mit.edu	37	21	42813696	42813696	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr21:42813696G>T	ENST00000398600.2	+	12	1809	c.784G>T	c.(784-786)Gac>Tac	p.D262Y	MX1_ENST00000455164.2_Missense_Mutation_p.D262Y|MX1_ENST00000288383.6_Missense_Mutation_p.D239Y|AP001610.5_ENST00000411427.1_RNA|MX1_ENST00000398598.3_Missense_Mutation_p.D262Y	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	MX dynamin-like GTPase 1	262	Dynamin-type G.|GTPase domain (Globular).				apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|response to type I interferon (GO:0034340)|response to virus (GO:0009615)|signal transduction (GO:0007165)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				CAAGGTTGTGGACGTGGTGCG	0.557																																						ENST00000398600.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27						c.(784-786)Gac>Tac		myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)							183.0	170.0	174.0					21																	42813696		2203	4300	6503	SO:0001583	missense	4599				induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding	g.chr21:42813696G>T		CCDS13673.1, CCDS74796.1	21q22.3	2014-07-15	2014-07-15		ENSG00000157601	ENSG00000157601			7532	protein-coding gene	gene with protein product	"""interferon-inducible protein p78"""	147150	"""myxovirus (influenza) resistance 1, homolog of murine (interferon-inducible protein p78)"", ""myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)"""			17570575	Standard	XM_005260979		Approved	IFI-78K, MxA	uc010goq.3	P20591	OTTHUMG00000086755	ENST00000398600.2:c.784G>T	21.37:g.42813696G>T	ENSP00000381601:p.Asp262Tyr					MX1_ENST00000455164.2_Missense_Mutation_p.D262Y|MX1_ENST00000398598.3_Missense_Mutation_p.D262Y|MX1_ENST00000288383.6_Missense_Mutation_p.D239Y|AP001610.5_ENST00000411427.1_RNA	p.D262Y	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN			12	1809	+		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)	262					B2RDA5|B3KU10|C9IYV7|C9J8D6|C9JN19|C9JN88|C9JUL1|C9JZS6|D3DSI8|Q86YP5|Q96CI3	Missense_Mutation	SNP	ENST00000398600.2	37	c.784G>T	CCDS13673.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.094406	0.36952	.	.	ENSG00000157601	ENST00000398600;ENST00000398598;ENST00000455164;ENST00000288383	T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05	4.89	4.0	0.46444	Dynamin, GTPase domain (1);Dynamin central domain (1);	0.273133	0.41396	D	0.000898	D	0.87128	0.6100	M	0.88704	2.975	0.45867	D	0.998729	D	0.71674	0.998	D	0.75484	0.986	D	0.87361	0.2344	10	0.87932	D	0	-64.9498	6.4673	0.21990	0.1916:0.0:0.8084:0.0	.	262	P20591	MX1_HUMAN	Y	262;262;262;239	ENSP00000381601:D262Y;ENSP00000381599:D262Y;ENSP00000410523:D262Y;ENSP00000288383:D239Y	ENSP00000288383:D239Y	D	+	1	0	MX1	41735566	0.307000	0.24500	0.753000	0.31225	0.004000	0.04260	1.561000	0.36342	2.662000	0.90505	0.655000	0.94253	GAC		0.557	MX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195161.2			16	72	1	0	2.32078e-09	1	2.82646e-09	16	72				
CNTNAP5	129684	broad.mit.edu	37	2	125192192	125192192	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:125192192G>A	ENST00000431078.1	+	5	1025	c.661G>A	c.(661-663)Gga>Aga	p.G221R		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	221	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCTGTTCCATGGAGAAGGTCA	0.507																																						ENST00000431078.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(661-663)Gga>Aga		contactin associated protein-like 5							83.0	84.0	84.0					2																	125192192		2089	4229	6318	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125192192G>A	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.661G>A	2.37:g.125192192G>A	ENSP00000399013:p.Gly221Arg						p.G221R	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	5	1025	+			221			Laminin G-like 1.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.661G>A	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.648584	0.47258	.	.	ENSG00000155052	ENST00000431078	T	0.77358	-1.09	5.48	5.48	0.80851	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.46442	D	0.000285	T	0.77384	0.4122	N	0.12853	0.265	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72606	-0.4242	10	0.11485	T	0.65	.	18.3591	0.90368	0.0:0.0:1.0:0.0	.	221	Q8WYK1	CNTP5_HUMAN	R	221	ENSP00000399013:G221R	ENSP00000399013:G221R	G	+	1	0	CNTNAP5	124908662	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	7.844000	0.86867	2.576000	0.86940	0.655000	0.94253	GGA		0.507	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			19	20	0	0	0	1	0	19	20				
CHST6	4166	broad.mit.edu	37	16	75512696	75512696	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr16:75512696C>T	ENST00000332272.4	-	3	1210	c.1031G>A	c.(1030-1032)cGc>cAc	p.R344H	CHST6_ENST00000390664.2_Missense_Mutation_p.R344H|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	344					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TTCCTGCACGCGGCGGATCTT	0.657																																						ENST00000332272.4																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1030-1032)cGc>cAc		carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6							55.0	51.0	53.0					16																	75512696		2198	4300	6498	SO:0001583	missense	4166				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75512696C>T	AF280086	CCDS10918.1	16q22	2008-02-05			ENSG00000183196	ENSG00000183196		"""Sulfotransferases, membrane-bound"""	6938	protein-coding gene	gene with protein product		605294		MCDC1		8644739, 11017086	Standard	NM_021615		Approved		uc002fef.3	Q9GZX3	OTTHUMG00000137612	ENST00000332272.4:c.1031G>A	16.37:g.75512696C>T	ENSP00000328983:p.Arg344His					RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Missense_Mutation_p.R344H	p.R344H	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN			3	1210	-			344					D3DUK3	Missense_Mutation	SNP	ENST00000332272.4	37	c.1031G>A	CCDS10918.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.613461	0.66672	.	.	ENSG00000183196	ENST00000332272;ENST00000390664	D;D	0.82893	-1.66;-1.66	4.9	4.9	0.64082	Sulfotransferase domain (1);	0.131012	0.48767	D	0.000171	D	0.88370	0.6418	M	0.78049	2.395	0.37036	D	0.896922	D	0.63880	0.993	P	0.62885	0.908	D	0.89384	0.3684	10	0.40728	T	0.16	.	9.2466	0.37529	0.0:0.9006:0.0:0.0994	.	344	Q9GZX3	CHST6_HUMAN	H	344	ENSP00000328983:R344H;ENSP00000375079:R344H	ENSP00000328983:R344H	R	-	2	0	CHST6	74070197	0.663000	0.27448	0.997000	0.53966	0.932000	0.56968	1.889000	0.39718	2.278000	0.76064	0.591000	0.81541	CGC		0.657	CHST6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435478.1	NM_021615		28	46	0	0	0	1	0	28	46				
CLCN5	1184	broad.mit.edu	37	X	49855411	49855411	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chrX:49855411C>G	ENST00000307367.2	+	11	2309	c.2018C>G	c.(2017-2019)aCt>aGt	p.T673S	CLCN5_ENST00000376088.3_Missense_Mutation_p.T743S|CLCN5_ENST00000376108.3_Missense_Mutation_p.T673S|CLCN5_ENST00000376091.3_Missense_Mutation_p.T743S			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	673					chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					CCACCATACACTCCACCCACT	0.463																																						ENST00000376088.3																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30						c.(2227-2229)aCt>aGt		chloride channel, voltage-sensitive 5							143.0	112.0	122.0					X																	49855411		2203	4300	6503	SO:0001583	missense	1184				excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding	g.chrX:49855411C>G	X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"""Ion channels / Chloride channels : Voltage-sensitive"""	2023	protein-coding gene	gene with protein product	"""Dent disease"""	300008	"""nephrolithiasis 2, X-linked"", ""nephrolithiasis 1 (X-linked)"", ""chloride channel 5"""	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000307367.2:c.2018C>G	X.37:g.49855411C>G	ENSP00000304257:p.Thr673Ser					CLCN5_ENST00000376108.3_Missense_Mutation_p.T673S|CLCN5_ENST00000376091.3_Missense_Mutation_p.T743S|CLCN5_ENST00000307367.2_Missense_Mutation_p.T673S	p.T743S	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN			14	2869	+	Ovarian(276;0.236)		673					A1L475|B3KPN6|Q5JQD5|Q7RTN8	Missense_Mutation	SNP	ENST00000307367.2	37	c.2228C>G	CCDS14328.1	.	.	.	.	.	.	.	.	.	.	C	0.037	-1.304175	0.01353	.	.	ENSG00000171365	ENST00000376088;ENST00000450422;ENST00000376091;ENST00000376108;ENST00000307367	D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99	5.39	4.52	0.55395	.	0.333784	0.36268	N	0.002692	T	0.56062	0.1960	N	0.00926	-1.1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.50717	-0.8795	10	0.02654	T	1	-24.3391	8.2999	0.32008	0.0:0.7605:0.1526:0.0869	.	673;743	P51795;P51795-2	CLCN5_HUMAN;.	S	743;575;743;673;673	ENSP00000365256:T743S;ENSP00000365259:T743S;ENSP00000365276:T673S;ENSP00000304257:T673S	ENSP00000304257:T673S	T	+	2	0	CLCN5	49742151	0.739000	0.28196	0.962000	0.40283	0.951000	0.60555	1.838000	0.39211	1.176000	0.42840	0.600000	0.82982	ACT		0.463	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056544.1			11	8	0	0	0	1	0	11	8				
DNAH5	1767	broad.mit.edu	37	5	13776571	13776571	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr5:13776571C>A	ENST00000265104.4	-	55	9454	c.9350G>T	c.(9349-9351)tGg>tTg	p.W3117L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3117	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATCTTTGGGCCATCGGCTGAA	0.458									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(9349-9351)tGg>tTg		dynein, axonemal, heavy chain 5							125.0	124.0	124.0					5																	13776571		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13776571C>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.9350G>T	5.37:g.13776571C>A	ENSP00000265104:p.Trp3117Leu						p.W3117L	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			55	9454	-	Lung NSC(4;0.00476)		3117			AAA 4 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.9350G>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	33	5.210300	0.95069	.	.	ENSG00000039139	ENST00000265104	T	0.57107	0.42	5.85	5.85	0.93711	Dynein heavy chain, P-loop containing D4 domain (1);	0.000000	0.85682	D	0.000000	D	0.87305	0.6144	H	0.99906	4.925	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93017	0.6437	10	0.87932	D	0	.	20.1653	0.98150	0.0:1.0:0.0:0.0	.	3117	Q8TE73	DYH5_HUMAN	L	3117	ENSP00000265104:W3117L	ENSP00000265104:W3117L	W	-	2	0	DNAH5	13829571	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.684000	0.84104	2.768000	0.95171	0.655000	0.94253	TGG		0.458	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		98	77	1	0	1.26289e-39	1	1.8576e-39	98	77				
CPZ	8532	broad.mit.edu	37	4	8602934	8602934	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:8602934C>A	ENST00000360986.4	+	3	380	c.206C>A	c.(205-207)tCa>tAa	p.S69*	CPZ_ENST00000506287.1_3'UTR|CPZ_ENST00000315782.6_Nonsense_Mutation_p.S58*|CPZ_ENST00000382480.2_De_novo_Start_OutOfFrame|CPZ_ENST00000429646.2_5'Flank	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	69	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CAGCACCGGTCATGGGAGGTG	0.647																																						ENST00000382480.2																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46								carboxypeptidase Z							64.0	53.0	56.0					4																	8602934		2203	4300	6503	SO:0001587	stop_gained	8532				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr4:8602934C>A	U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"""metallocarboxypeptidase Z"""	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.206C>A	4.37:g.8602934C>A	ENSP00000354255:p.Ser69*					CPZ_ENST00000506287.1_3'UTR|CPZ_ENST00000360986.4_Nonsense_Mutation_p.S69*|CPZ_ENST00000315782.6_Nonsense_Mutation_p.S58*		NM_001014448.2	NP_001014448.1	Q66K79	CBPZ_HUMAN			0	595	+								O00520|Q96MX2	Translation_Start_Site	SNP	ENST00000360986.4	37		CCDS33953.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.161141	0.57368	.	.	ENSG00000109625	ENST00000360986;ENST00000315782	.	.	.	3.59	3.59	0.41128	.	0.148934	0.46442	D	0.000282	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.2219	15.3991	0.74823	0.0:1.0:0.0:0.0	.	.	.	.	X	69;58	.	ENSP00000315074:S58X	S	+	2	0	CPZ	8653834	0.080000	0.21391	0.337000	0.25536	0.105000	0.19272	2.235000	0.43044	1.810000	0.52873	0.561000	0.74099	TCA		0.647	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652		8	35	1	0	1.76689e-08	1	2.11788e-08	8	35				
GRSF1	2926	broad.mit.edu	37	4	71691068	71691068	+	Silent	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:71691068G>A	ENST00000254799.6	-	8	1455	c.1338C>T	c.(1336-1338)caC>caT	p.H446H	GRSF1_ENST00000502323.1_Silent_p.H284H|GRSF1_ENST00000545193.1_Silent_p.H328H|GRSF1_ENST00000439371.1_Silent_p.H284H|GRSF1_ENST00000508091.1_Intron	NM_002092.3	NP_002083	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	446	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anterior/posterior pattern specification (GO:0009952)|morphogenesis of embryonic epithelium (GO:0016331)|mRNA polyadenylation (GO:0006378)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			GGGTCTCAAAGTGCACATCAG	0.478																																						ENST00000254799.6																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17						c.(1336-1338)caC>caT		G-rich RNA sequence binding factor 1							74.0	74.0	74.0					4																	71691068		2017	4197	6214	SO:0001819	synonymous_variant	2926				mRNA polyadenylation		mRNA binding|nucleotide binding	g.chr4:71691068G>A	BC040485	CCDS47069.1, CCDS47070.1	4q13	2013-07-16				ENSG00000132463		"""RNA binding motif (RRM) containing"""	4610	protein-coding gene	gene with protein product		604851				8036161	Standard	NM_001098477		Approved		uc010iia.1	Q12849		ENST00000254799.6:c.1338C>T	4.37:g.71691068G>A						GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000502323.1_Silent_p.H284H|GRSF1_ENST00000545193.1_Silent_p.H328H|GRSF1_ENST00000439371.1_Silent_p.H284H	p.H446H	NM_002092.3	NP_002083.3	Q12849	GRSF1_HUMAN	Lung(101;0.235)		8	1455	-		all_hematologic(202;0.21)	446			RRM 3.		B3KPW0|Q4W5S5|Q6ZST3|Q8IWD6|Q8NBD2	Silent	SNP	ENST00000254799.6	37	c.1338C>T	CCDS47069.1	.	.	.	.	.	.	.	.	.	.	G	9.332	1.060775	0.19987	.	.	ENSG00000132463	ENST00000514161	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	T	0.62368	0.2422	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59490	-0.7445	4	.	.	.	-9.4376	10.5162	0.44892	0.0679:0.0:0.7991:0.133	.	.	.	.	I	383	.	.	T	-	2	0	GRSF1	71909932	0.999000	0.42202	1.000000	0.80357	0.961000	0.63080	0.478000	0.22212	2.884000	0.98904	0.655000	0.94253	ACT		0.478	GRSF1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362642.1	NM_002092		11	12	0	0	0	1	0	11	12				
CDC42BPG	55561	broad.mit.edu	37	11	64603708	64603708	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:64603708C>T	ENST00000342711.5	-	13	1548	c.1549G>A	c.(1549-1551)Ggg>Agg	p.G517R		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						TCCTGCTGCCCCTGGGCCCTG	0.701											OREG0004017	type=REGULATORY REGION|Gene=CDC42BPG|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000342711.5																			0				central_nervous_system(1)|lung(3)	4						c.(1549-1551)Ggg>Agg		CDC42 binding protein kinase gamma (DMPK-like)							15.0	16.0	16.0					11																	64603708		2195	4293	6488	SO:0001583	missense	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64603708C>T	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.1549G>A	11.37:g.64603708C>T	ENSP00000345133:p.Gly517Arg		OREG0004017	type=REGULATORY REGION|Gene=CDC42BPG|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1077		p.G517R	NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN			13	1548	-			517						Missense_Mutation	SNP	ENST00000342711.5	37	c.1549G>A	CCDS31601.1	.	.	.	.	.	.	.	.	.	.	C	6.074	0.382020	0.11524	.	.	ENSG00000171219	ENST00000342711	T	0.21191	2.02	4.54	1.54	0.23209	.	1.122620	0.06887	N	0.803613	T	0.17874	0.0429	L	0.51422	1.61	0.09310	N	1	B	0.24823	0.112	B	0.25140	0.058	T	0.38628	-0.9652	10	0.15499	T	0.54	.	4.6377	0.12531	0.0:0.6159:0.1827:0.2014	.	517	Q6DT37	MRCKG_HUMAN	R	517	ENSP00000345133:G517R	ENSP00000345133:G517R	G	-	1	0	CDC42BPG	64360284	0.000000	0.05858	0.002000	0.10522	0.037000	0.13140	-0.854000	0.04299	0.104000	0.17725	0.462000	0.41574	GGG		0.701	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		8	9	0	0	0	1	0	8	9				
TEX13A	56157	broad.mit.edu	37	X	104465006	104465006	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chrX:104465006C>A	ENST00000413579.1	-	2	187	c.76G>T	c.(76-78)Gcc>Tcc	p.A26S	TEX13A_ENST00000372575.1_Missense_Mutation_p.A26S|IL1RAPL2_ENST00000372582.1_Intron|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372578.3_Missense_Mutation_p.A26S			Q9BXU3	TX13A_HUMAN	testis expressed 13A	26							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						GTGTGCCTGGCCATTTTCTCG	0.542																																						ENST00000372578.3																			0				large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						c.(76-78)Gcc>Tcc		testis expressed 13A							69.0	62.0	64.0					X																	104465006		2203	4300	6503	SO:0001583	missense	56157					intracellular	zinc ion binding	g.chrX:104465006C>A	AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"""testis expressed sequence 13A"""			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.76G>T	X.37:g.104465006C>A	ENSP00000399753:p.Ala26Ser					IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000413579.1_Missense_Mutation_p.A26S|TEX13A_ENST00000372575.1_Missense_Mutation_p.A26S|IL1RAPL2_ENST00000372582.1_Intron	p.A26S	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN			2	187	-			26					B1B1G8|Q32NB6	Missense_Mutation	SNP	ENST00000413579.1	37	c.76G>T		.	.	.	.	.	.	.	.	.	.	C	1.070	-0.670317	0.03403	.	.	ENSG00000133149	ENST00000372578;ENST00000372575;ENST00000413579	.	.	.	3.59	-0.42	0.12336	.	0.816543	0.10014	N	0.726834	T	0.15132	0.0365	.	.	.	0.09310	N	1	P;B	0.35612	0.512;0.33	B;B	0.37198	0.243;0.094	T	0.21381	-1.0247	8	0.15952	T	0.53	.	2.1242	0.03734	0.1878:0.3291:0.3631:0.12	.	26;26	C9JWK0;Q9BXU3	.;TX13A_HUMAN	S	26	.	ENSP00000361656:A26S	A	-	1	0	TEX13A	104351662	0.006000	0.16342	0.000000	0.03702	0.052000	0.14988	-0.401000	0.07232	-0.224000	0.09928	0.506000	0.49869	GCC		0.542	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274		18	8	1	0	3.51602e-12	1	4.50967e-12	18	8				
PCDH1	5097	broad.mit.edu	37	5	141248204	141248204	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr5:141248204G>T	ENST00000394536.3	-	2	972	c.833C>A	c.(832-834)cCc>cAc	p.P278H	PCDH1_ENST00000287008.3_Missense_Mutation_p.P278H|PCDH1_ENST00000456271.1_Missense_Mutation_p.P266H|PCDH1_ENST00000503492.1_Missense_Mutation_p.P278H|PCDH1_ENST00000511044.1_5'Flank|PCDH1_ENST00000536585.1_Missense_Mutation_p.P256H	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	278	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CTCAAACTTGGGGGCGTTGTC	0.607																																					Ovarian(132;1609 1739 4190 14731 45037)	ENST00000287008.3																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51						c.(832-834)cCc>cAc		protocadherin 1							41.0	42.0	42.0					5																	141248204		2203	4300	6503	SO:0001583	missense	5097				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	g.chr5:141248204G>T	AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.833C>A	5.37:g.141248204G>T	ENSP00000378043:p.Pro278His					PCDH1_ENST00000503492.1_Missense_Mutation_p.P278H|PCDH1_ENST00000456271.1_Missense_Mutation_p.P266H|PCDH1_ENST00000536585.1_Missense_Mutation_p.P256H|PCDH1_ENST00000394536.3_Missense_Mutation_p.P278H	p.P278H	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)	2	980	-		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	278			Cadherin 2.		Q8IUP2	Missense_Mutation	SNP	ENST00000394536.3	37	c.833C>A	CCDS43375.1	.	.	.	.	.	.	.	.	.	.	g	23.5	4.421115	0.83559	.	.	ENSG00000156453	ENST00000503492;ENST00000287008;ENST00000394536;ENST00000456271;ENST00000357517;ENST00000536585	T;D;D;D;D;D	0.84873	-0.27;-1.91;-1.91;-1.91;-1.91;-1.91	4.49	4.49	0.54785	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.51477	D	0.000093	D	0.95701	0.8602	H	0.99074	4.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97298	0.9929	10	0.87932	D	0	.	15.0642	0.71980	0.0:0.0:1.0:0.0	.	278;278	Q08174;Q08174-2	PCDH1_HUMAN;.	H	278;278;278;266;289;256	ENSP00000424667:P278H;ENSP00000287008:P278H;ENSP00000378043:P278H;ENSP00000403497:P266H;ENSP00000350122:P289H;ENSP00000438825:P256H	ENSP00000287008:P278H	P	-	2	0	PCDH1	141228388	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.601000	0.98297	2.490000	0.84030	0.556000	0.70494	CCC		0.607	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	NM_032420		18	7	1	0	3.41278e-10	1	4.25396e-10	18	7				
CCDC88C	440193	broad.mit.edu	37	14	91826003	91826003	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr14:91826003C>A	ENST00000389857.6	-	4	409	c.323G>T	c.(322-324)gGc>gTc	p.G108V		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	108					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TGGGTCTCTGCCAATCATCAA	0.527																																						ENST00000389857.6																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24						c.(322-324)gGc>gTc		coiled-coil domain containing 88C							53.0	52.0	52.0					14																	91826003		1931	4124	6055	SO:0001583	missense	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91826003C>A		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.323G>T	14.37:g.91826003C>A	ENSP00000374507:p.Gly108Val						p.G108V	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN			4	409	-		all_cancers(154;0.0468)	108					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	37	c.323G>T	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.197247	0.79015	.	.	ENSG00000015133	ENST00000389857;ENST00000541408	T	0.18338	2.22	5.44	5.44	0.79542	.	0.000000	0.39759	U	0.001277	T	0.33206	0.0855	L	0.53249	1.67	0.80722	D	1	P	0.50443	0.935	P	0.57620	0.824	T	0.00867	-1.1534	10	0.49607	T	0.09	-32.7125	16.2104	0.82151	0.0:1.0:0.0:0.0	.	108	Q9P219	DAPLE_HUMAN	V	108;72	ENSP00000374507:G108V	ENSP00000374507:G108V	G	-	2	0	CCDC88C	90895756	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.265000	0.65519	2.542000	0.85734	0.650000	0.86243	GGC		0.527	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		5	9	1	0	0.184627	1	0.186737	5	9				
PIEZO2	63895	broad.mit.edu	37	18	10689740	10689740	+	Missense_Mutation	SNP	G	G	T	rs530837872		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr18:10689740G>T	ENST00000503781.3	-	45	7070	c.7071C>A	c.(7069-7071)gaC>gaA	p.D2357E	PIEZO2_ENST00000580640.1_Missense_Mutation_p.D2382E|PIEZO2_ENST00000538948.1_Missense_Mutation_p.D314E|PIEZO2_ENST00000302079.6_Missense_Mutation_p.D2357E|PIEZO2_ENST00000285141.4_Missense_Mutation_p.D212E	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2357					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										TCAAAGTTGTGTCCGTCCACA	0.537																																						ENST00000302079.6																			0											c.(7069-7071)gaC>gaA		piezo-type mechanosensitive ion channel component 2							119.0	91.0	101.0					18																	10689740		2203	4300	6503	SO:0001583	missense	63895					integral to membrane	ion channel activity	g.chr18:10689740G>T	AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"""chromosome 18 open reading frame 30"", ""chromosome 18 open reading frame 58"", ""family with sequence similarity 38, member B"""	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.7071C>A	18.37:g.10689740G>T	ENSP00000421377:p.Asp2357Glu					PIEZO2_ENST00000285141.4_Missense_Mutation_p.D212E|PIEZO2_ENST00000580640.1_Missense_Mutation_p.D2382E|PIEZO2_ENST00000538948.1_Missense_Mutation_p.D314E|PIEZO2_ENST00000503781.3_Missense_Mutation_p.D2357E	p.D2357E			Q9H5I5	PIEZ2_HUMAN			45	7070	-			2357					B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Missense_Mutation	SNP	ENST00000503781.3	37	c.7071C>A		.	.	.	.	.	.	.	.	.	.	G	21.9	4.219828	0.79464	.	.	ENSG00000154864	ENST00000503781;ENST00000302079;ENST00000538948;ENST00000285141	T;T;T	0.73469	-0.75;-0.75;-0.75	4.64	3.75	0.43078	.	0.142759	0.47093	D	0.000243	T	0.81307	0.4795	M	0.73319	2.225	0.50171	D	0.999852	D	0.89917	1.0	D	0.81914	0.995	T	0.78066	-0.2349	10	0.25751	T	0.34	.	7.4518	0.27242	0.2569:0.0:0.7431:0.0	.	314	D6RFZ0	.	E	314;2357;314;212	ENSP00000303316:D2357E;ENSP00000443129:D314E;ENSP00000285141:D212E	ENSP00000285141:D212E	D	-	3	2	FAM38B	10679740	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.681000	0.54648	1.279000	0.44446	0.655000	0.94253	GAC		0.537	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442385.4	NM_022068		39	29	1	0	1.60099e-16	1	2.13599e-16	39	29				
ZNF106	64397	broad.mit.edu	37	15	42742624	42742624	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr15:42742624C>G	ENST00000263805.4	-	2	2103	c.1777G>C	c.(1777-1779)Gag>Cag	p.E593Q	ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	593					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TCAGATGTCTCTCCATCACTT	0.403																																						ENST00000263805.4																			0											c.(1777-1779)Gag>Cag		zinc finger protein 106							178.0	171.0	173.0					15																	42742624		2203	4299	6502	SO:0001583	missense	64397							g.chr15:42742624C>G	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.1777G>C	15.37:g.42742624C>G	ENSP00000263805:p.Glu593Gln					ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	p.E593Q	NM_022473.1	NP_071918.1					2	2103	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	37	c.1777G>C	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	C	9.947	1.219200	0.22373	.	.	ENSG00000103994	ENST00000263805	T	0.22539	1.95	5.03	4.11	0.48088	.	0.705256	0.14507	N	0.315368	T	0.17831	0.0428	L	0.40543	1.245	0.22591	N	0.998958	B;B	0.28850	0.225;0.144	B;B	0.27262	0.078;0.014	T	0.14062	-1.0486	10	0.51188	T	0.08	-0.7115	9.2826	0.37737	0.0:0.7779:0.1454:0.0767	.	376;593	B4DGC7;Q9H2Y7	.;ZF106_HUMAN	Q	593	ENSP00000263805:E593Q	ENSP00000263805:E593Q	E	-	1	0	ZFP106	40529916	0.001000	0.12720	0.012000	0.15200	0.743000	0.42351	0.939000	0.28978	1.466000	0.48025	0.650000	0.86243	GAG		0.403	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		7	99	0	0	0	1	0	7	99				
JMJD1C	221037	broad.mit.edu	37	10	64973285	64973285	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr10:64973285G>A	ENST00000399262.2	-	8	2860	c.2642C>T	c.(2641-2643)tCt>tTt	p.S881F	JMJD1C_ENST00000489372.2_5'Flank|JMJD1C_ENST00000399251.1_Missense_Mutation_p.S662F|JMJD1C_ENST00000402544.1_Missense_Mutation_p.S662F|JMJD1C_ENST00000542921.1_Missense_Mutation_p.S699F	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	881					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AACCCACTTAGAAGAAGGCAA	0.393																																						ENST00000399262.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.(2641-2643)tCt>tTt		jumonji domain containing 1C							114.0	110.0	111.0					10																	64973285		1906	4129	6035	SO:0001583	missense	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64973285G>A	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.2642C>T	10.37:g.64973285G>A	ENSP00000382204:p.Ser881Phe					JMJD1C_ENST00000402544.1_Missense_Mutation_p.S662F|JMJD1C_ENST00000399251.1_Missense_Mutation_p.S662F|JMJD1C_ENST00000542921.1_Missense_Mutation_p.S699F	p.S881F	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN			8	2860	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		881					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	c.2642C>T	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.909902	0.52439	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	5.21	4.31	0.51392	.	0.133316	0.52532	D	0.000069	T	0.59059	0.2166	L	0.60455	1.87	0.45354	D	0.998349	P;D	0.71674	0.923;0.998	B;D	0.64237	0.439;0.923	T	0.55263	-0.8168	10	0.16420	T	0.52	-11.5719	13.8394	0.63430	0.0741:0.0:0.9259:0.0	.	881;699	Q15652;A0T124	JHD2C_HUMAN;.	F	881;662;662;699	ENSP00000382204:S881F;ENSP00000384990:S662F;ENSP00000382195:S662F;ENSP00000444682:S699F	ENSP00000382195:S662F	S	-	2	0	JMJD1C	64643291	1.000000	0.71417	0.981000	0.43875	0.993000	0.82548	9.249000	0.95470	1.211000	0.43351	0.655000	0.94253	TCT		0.393	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		30	27	0	0	0	1	0	30	27				
RASGEF1B	153020	broad.mit.edu	37	4	82366944	82366944	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:82366944C>A	ENST00000264400.2	-	7	929	c.778G>T	c.(778-780)Gaa>Taa	p.E260*	RASGEF1B_ENST00000509081.1_Nonsense_Mutation_p.E259*|RASGEF1B_ENST00000335927.7_Nonsense_Mutation_p.E218*	NM_152545.1	NP_689758.1	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	260	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						TTAAACCATTCCACGTAAGCT	0.353																																						ENST00000509081.1																			0				endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						c.(775-777)Gaa>Taa		RasGEF domain family, member 1B							104.0	99.0	100.0					4																	82366944		2203	4300	6503	SO:0001587	stop_gained	153020				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr4:82366944C>A	AK056257	CCDS34022.1, CCDS75151.1, CCDS75152.1	4q21.21	2013-09-24				ENSG00000138670			24881	protein-coding gene	gene with protein product		614532				12488504	Standard	XM_005262776		Approved	GPIG4, FLJ31695	uc003hmi.1	Q0VAM2		ENST00000264400.2:c.778G>T	4.37:g.82366944C>A	ENSP00000264400:p.Glu260*					RASGEF1B_ENST00000264400.2_Nonsense_Mutation_p.E260*|RASGEF1B_ENST00000335927.7_Nonsense_Mutation_p.E218*	p.E259*			Q0VAM2	RGF1B_HUMAN			7	996	-			260			Ras-GEF.		Q0VAM1|Q4W5L7|Q4W5M3|Q96MY8	Nonsense_Mutation	SNP	ENST00000264400.2	37	c.775G>T	CCDS34022.1	.	.	.	.	.	.	.	.	.	.	C	38	7.117285	0.98074	.	.	ENSG00000138670	ENST00000509081;ENST00000264400;ENST00000335927;ENST00000504863	.	.	.	5.44	5.44	0.79542	.	0.097855	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	19.0495	0.93038	0.0:1.0:0.0:0.0	.	.	.	.	X	259;260;218;105	.	ENSP00000264400:E260X	E	-	1	0	RASGEF1B	82585968	0.997000	0.39634	1.000000	0.80357	0.992000	0.81027	2.289000	0.43523	2.832000	0.97577	0.655000	0.94253	GAA		0.353	RASGEF1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362830.1	NM_152545		6	25	1	0	0.248553	1	0.249965	6	25				
TP53	7157	broad.mit.edu	37	17	7577046	7577046	+	Nonsense_Mutation	SNP	C	C	A	rs201744589		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:7577046C>A	ENST00000269305.4	-	8	1081	c.892G>T	c.(892-894)Gag>Tag	p.E298*	TP53_ENST00000445888.2_Nonsense_Mutation_p.E298*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E298*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.E298*|TP53_ENST00000420246.2_Nonsense_Mutation_p.E298*	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	298	Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|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.E298*(49)|p.0?(8)|p.?(2)|p.E298K(1)|p.L299fs*2(1)|p.L265_K305del41(1)|p.E298fs*53(1)|p.G293fs*1(1)|p.E298Q(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(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)	GGGGGCAGCTCGTGGTGAGGC	0.567		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		67	Substitution - Nonsense(49)|Whole gene deletion(8)|Deletion - In frame(3)|Unknown(2)|Deletion - Frameshift(2)|Substitution - Missense(2)|Insertion - Frameshift(1)	p.E298*(49)|p.0?(8)|p.?(2)|p.E298K(1)|p.L299fs*2(1)|p.L265_K305del41(1)|p.E298fs*53(1)|p.G293fs*1(1)|p.E298Q(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(1)	lung(21)|upper_aerodigestive_tract(13)|breast(6)|bone(5)|haematopoietic_and_lymphoid_tissue(4)|urinary_tract(4)|central_nervous_system(2)|oesophagus(2)|ovary(2)|pancreas(2)|liver(2)|large_intestine(1)|stomach(1)|salivary_gland(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	CM031387	TP53	M		c.(892-894)Gag>Tag	Other conserved DNA damage response genes	tumor protein p53							110.0	96.0	101.0					17																	7577046		2203	4300	6503	SO:0001587	stop_gained	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.chr17:7577046C>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.892G>T	17.37:g.7577046C>A	ENSP00000269305:p.Glu298*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.E298*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E298*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E298*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E298*	p.E298*	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	1024	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	298		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).	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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.892G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.603544	0.66445	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.26	-4.03	0.04021	.	0.553557	0.18174	N	0.149346	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-12.8318	5.9489	0.19234	0.0:0.2155:0.4162:0.3682	.	.	.	.	X	298;298;298;298;298;287;166	.	ENSP00000269305:E298X	E	-	1	0	TP53	7517771	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.837000	0.04377	-0.441000	0.07201	-0.218000	0.12543	GAG		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		29	14	1	0	8.88839e-20	1	1.2291e-19	29	14				
PCDHA2	56146	broad.mit.edu	37	5	140176485	140176485	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr5:140176485C>T	ENST00000526136.1	+	1	1936	c.1936C>T	c.(1936-1938)Cgc>Tgc	p.R646C	PCDHA2_ENST00000520672.2_Missense_Mutation_p.R646C|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.R646C|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	646	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTCGACACCGCCTACTCGT	0.642																																						ENST00000526136.1																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71						c.(1936-1938)Cgc>Tgc									81.0	79.0	79.0					5																	140176485		2203	4300	6503	SO:0001583	missense	56146							g.chr5:140176485C>T	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1936C>T	5.37:g.140176485C>T	ENSP00000431748:p.Arg646Cys					PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.R646C|PCDHA2_ENST00000378132.1_Missense_Mutation_p.R646C	p.R646C	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1936	+								O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.1936C>T	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	c	4.342	0.062921	0.08388	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.53640	0.61;0.61;0.61	3.91	1.93	0.25924	Cadherin (4);Cadherin-like (1);	1.236430	0.06516	U	0.738854	T	0.52677	0.1749	M	0.89840	3.065	0.09310	N	1	B;P;B	0.35174	0.432;0.488;0.432	B;B;B	0.26770	0.073;0.056;0.073	T	0.55724	-0.8096	10	0.62326	D	0.03	.	9.0165	0.36173	0.3032:0.5794:0.1174:0.0	.	646;646;646	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	C	646	ENSP00000430584:R646C;ENSP00000367372:R646C;ENSP00000431748:R646C	ENSP00000367372:R646C	R	+	1	0	PCDHA2	140156669	0.000000	0.05858	0.059000	0.19551	0.007000	0.05969	0.085000	0.14912	1.917000	0.55516	0.549000	0.68633	CGC		0.642	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		33	11	0	0	0	1	0	33	11				
RP1	6101	broad.mit.edu	37	8	55540556	55540556	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr8:55540556C>A	ENST00000220676.1	+	4	4262	c.4114C>A	c.(4114-4116)Cta>Ata	p.L1372I		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1372					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TCAGAAAGATCTAAATATTTT	0.333																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(4114-4116)Cta>Ata		retinitis pigmentosa 1 (autosomal dominant)							55.0	60.0	58.0					8																	55540556		2202	4300	6502	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55540556C>A	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.4114C>A	8.37:g.55540556C>A	ENSP00000220676:p.Leu1372Ile						p.L1372I	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	4262	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1372						Missense_Mutation	SNP	ENST00000220676.1	37	c.4114C>A	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.907109	0.33628	.	.	ENSG00000104237	ENST00000220676	T	0.34667	1.35	5.89	-0.24	0.13047	.	0.485640	0.17231	N	0.181947	T	0.17874	0.0429	L	0.29908	0.895	0.09310	N	1	P	0.39282	0.666	B	0.31869	0.137	T	0.14282	-1.0478	10	0.72032	D	0.01	.	2.5326	0.04706	0.1055:0.4493:0.2052:0.24	.	1372	P56715	RP1_HUMAN	I	1372	ENSP00000220676:L1372I	ENSP00000220676:L1372I	L	+	1	2	RP1	55703109	0.000000	0.05858	0.007000	0.13788	0.697000	0.40408	-0.821000	0.04452	-0.106000	0.12110	0.655000	0.94253	CTA		0.333	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		42	39	1	0	2.6416e-12	1	3.39634e-12	42	39				
SRRM2	23524	broad.mit.edu	37	16	2812438	2812438	+	Missense_Mutation	SNP	A	A	T	rs528512460		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr16:2812438A>T	ENST00000301740.8	+	11	2458	c.1909A>T	c.(1909-1911)Agt>Tgt	p.S637C		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	637	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CAGGTCTCGTAGTAGATCACC	0.622																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(1909-1911)Agt>Tgt		serine/arginine repetitive matrix 2							90.0	89.0	89.0					16																	2812438		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2812438A>T	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.1909A>T	16.37:g.2812438A>T	ENSP00000301740:p.Ser637Cys						p.S637C	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			11	2458	+			637			Arg-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.1909A>T	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	A	10.72	1.430611	0.25726	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000426305	T	0.29917	1.55	5.91	5.91	0.95273	.	0.170265	0.41823	D	0.000811	T	0.25975	0.0633	N	0.24115	0.695	0.34100	D	0.661795	D	0.58620	0.983	P	0.47206	0.541	T	0.43196	-0.9406	10	0.87932	D	0	-10.1687	9.5573	0.39346	0.8434:0.0:0.0:0.1566	.	637	Q9UQ35	SRRM2_HUMAN	C	637;637;602	ENSP00000301740:S637C	ENSP00000301740:S637C	S	+	1	0	SRRM2	2752439	0.985000	0.35326	1.000000	0.80357	0.952000	0.60782	2.809000	0.47971	2.260000	0.74910	0.533000	0.62120	AGT		0.622	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			5	82	0	0	0	1	0	5	82				
TSPAN19	144448	broad.mit.edu	37	12	85408284	85408284	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:85408284T>C	ENST00000532498.2	-	9	809	c.729A>G	c.(727-729)atA>atG	p.I243M		NM_001100917.1	NP_001094387.1	P0C672	TSN19_HUMAN	tetraspanin 19	243						integral component of membrane (GO:0016021)				ovary(1)	1						CTGCATGGATTATATTCTTGA	0.274																																						ENST00000532498.2																			0				ovary(1)	1						c.(727-729)atA>atG		tetraspanin 19							68.0	67.0	67.0					12																	85408284		1798	4056	5854	SO:0001583	missense	144448					integral to membrane		g.chr12:85408284T>C		CCDS44949.1	12q21.31	2013-02-14			ENSG00000231738	ENSG00000231738		"""Tetraspanins"""	31886	protein-coding gene	gene with protein product							Standard	NM_001100917		Approved		uc009zsj.3	P0C672	OTTHUMG00000166181	ENST00000532498.2:c.729A>G	12.37:g.85408284T>C	ENSP00000433816:p.Ile243Met						p.I243M	NM_001100917.1	NP_001094387.1	P0C672	TSN19_HUMAN			9	809	-			243						Missense_Mutation	SNP	ENST00000532498.2	37	c.729A>G	CCDS44949.1	.	.	.	.	.	.	.	.	.	.	T	5.292	0.239206	0.10023	.	.	ENSG00000231738	ENST00000532498	T	0.42131	0.98	3.71	3.71	0.42584	.	.	.	.	.	T	0.17789	0.0427	N	0.08118	0	0.20821	N	0.999845	P	0.39782	0.688	B	0.25291	0.059	T	0.03184	-1.1063	9	0.30854	T	0.27	.	9.3848	0.38336	0.0:0.0:0.0:1.0	.	243	P0C672	TSN19_HUMAN	M	243	ENSP00000433816:I243M	ENSP00000433816:I243M	I	-	3	3	TSPAN19	83932415	0.915000	0.31059	0.596000	0.28811	0.004000	0.04260	1.498000	0.35660	1.640000	0.50565	0.449000	0.29647	ATA		0.274	TSPAN19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388240.2	NM_001100917		9	20	0	0	0	1	0	9	20				
NVL	4931	broad.mit.edu	37	1	224463099	224463099	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:224463099G>C	ENST00000281701.6	-	17	2283	c.2024C>G	c.(2023-2025)cCc>cGc	p.P675R	NVL_ENST00000469075.1_Missense_Mutation_p.P584R|NVL_ENST00000482491.1_Missense_Mutation_p.P399R|NVL_ENST00000391875.2_Missense_Mutation_p.P569R|NVL_ENST00000340871.4_Missense_Mutation_p.P486R|NVL_ENST00000361463.3_Missense_Mutation_p.P569R	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	675						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		TATCACACAGGGTGCTGAGTT	0.408																																						ENST00000281701.6																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42						c.(2023-2025)cCc>cGc		nuclear VCP-like							131.0	124.0	126.0					1																	224463099		2203	4300	6503	SO:0001583	missense	4931					aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity	g.chr1:224463099G>C	U78772	CCDS1541.1, CCDS1542.1, CCDS58062.1, CCDS58063.1	1q41-q42.2	2010-04-21			ENSG00000143748	ENSG00000143748		"""ATPases / AAA-type"""	8070	protein-coding gene	gene with protein product	"""Nuclear valosin-containing protein-like"", ""nuclear VCP-like protein"""	602426				9286697	Standard	NM_002533		Approved		uc001hok.3	O15381	OTTHUMG00000037536	ENST00000281701.6:c.2024C>G	1.37:g.224463099G>C	ENSP00000281701:p.Pro675Arg					NVL_ENST00000469075.1_Missense_Mutation_p.P584R|NVL_ENST00000482491.1_Missense_Mutation_p.P399R|NVL_ENST00000340871.4_Missense_Mutation_p.P486R|NVL_ENST00000391875.2_Missense_Mutation_p.P569R|NVL_ENST00000361463.3_Missense_Mutation_p.P569R	p.P675R	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN		GBM - Glioblastoma multiforme(131;0.00501)	17	2283	-			675					B4DMC4|B4DP98|Q96EM7	Missense_Mutation	SNP	ENST00000281701.6	37	c.2024C>G	CCDS1541.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357899	0.82243	.	.	ENSG00000143748	ENST00000281701;ENST00000391875;ENST00000469075;ENST00000482491;ENST00000340871;ENST00000361463	D;D;D;D;D;D	0.96232	-3.95;-3.95;-3.95;-3.95;-3.95;-3.95	5.67	4.77	0.60923	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.97926	0.9318	M	0.80422	2.495	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	0.98638	1.0674	10	0.87932	D	0	-11.9606	14.3252	0.66515	0.0719:0.0:0.9281:0.0	.	486;584;675	B4DMC4;B4DP98;O15381	.;.;NVL_HUMAN	R	675;569;584;399;486;569	ENSP00000281701:P675R;ENSP00000375747:P569R;ENSP00000417826:P584R;ENSP00000417213:P399R;ENSP00000341362:P486R;ENSP00000354779:P569R	ENSP00000281701:P675R	P	-	2	0	NVL	222529722	1.000000	0.71417	0.994000	0.49952	0.979000	0.70002	9.298000	0.96132	1.395000	0.46643	-0.140000	0.14226	CCC		0.408	NVL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091453.2	NM_002533		28	50	0	0	0	1	0	28	50				
RREB1	6239	broad.mit.edu	37	6	7229573	7229573	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:7229573C>T	ENST00000349384.6	+	10	1555	c.1241C>T	c.(1240-1242)cCt>cTt	p.P414L	RREB1_ENST00000379938.2_Missense_Mutation_p.P414L|RREB1_ENST00000379933.3_Missense_Mutation_p.P414L|RREB1_ENST00000334984.6_Missense_Mutation_p.P414L	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	414					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGCCTGTCACCTTTCGAAGCT	0.592																																						ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1240-1242)cCt>cTt		ras responsive element binding protein 1							51.0	48.0	49.0					6																	7229573		2203	4300	6503	SO:0001583	missense	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7229573C>T	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.1241C>T	6.37:g.7229573C>T	ENSP00000305560:p.Pro414Leu					RREB1_ENST00000349384.6_Missense_Mutation_p.P414L|RREB1_ENST00000334984.6_Missense_Mutation_p.P414L|RREB1_ENST00000379933.3_Missense_Mutation_p.P414L	p.P414L	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			10	1778	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	414					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	c.1241C>T	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	C	1.727	-0.495136	0.04322	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	T;T;T;T;T	0.10005	3.04;3.02;3.04;2.92;3.09	5.42	5.42	0.78866	.	0.113146	0.38959	N	0.001512	T	0.12732	0.0309	N	0.17082	0.46	0.47214	D	0.999352	D;D;P	0.69078	0.997;0.997;0.949	D;P;P	0.66497	0.944;0.88;0.596	T	0.19910	-1.0291	10	0.59425	D	0.04	-13.0859	19.2236	0.93808	0.0:1.0:0.0:0.0	.	414;414;414	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	L	414	ENSP00000369265:P414L;ENSP00000369270:P414L;ENSP00000305560:P414L;ENSP00000335574:P414L;ENSP00000419511:P414L	ENSP00000335574:P414L	P	+	2	0	RREB1	7174572	0.149000	0.22717	0.831000	0.32960	0.769000	0.43574	4.191000	0.58372	2.544000	0.85801	0.561000	0.74099	CCT		0.592	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			14	30	0	0	0	1	0	14	30				
DNAH9	1770	broad.mit.edu	37	17	11684444	11684444	+	Silent	SNP	G	G	A	rs143485595		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:11684444G>A	ENST00000262442.4	+	39	7739	c.7671G>A	c.(7669-7671)acG>acA	p.T2557T	DNAH9_ENST00000454412.2_Silent_p.T2557T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2557	AAA 3. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCTACGGGACGGTGCAGCCCC	0.552																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(7669-7671)acG>acA		dynein, axonemal, heavy chain 9		G		0,4406		0,0,2203	68.0	55.0	60.0		7671	-10.2	0.0	17	dbSNP_134	60	1,8599	2.2+/-6.3	0,1,4299	no	coding-synonymous	DNAH9	NM_001372.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		2557/4487	11684444	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11684444G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.7671G>A	17.37:g.11684444G>A						DNAH9_ENST00000454412.2_Silent_p.T2557T	p.T2557T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	39	7739	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2557			AAA 3 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	c.7671G>A	CCDS11160.1																																																																																				0.552	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		8	22	0	0	0	1	0	8	22				
HEXDC	284004	broad.mit.edu	37	17	80398881	80398881	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:80398881G>C	ENST00000327949.9	+	9	1002	c.991G>C	c.(991-993)Gat>Cat	p.D331H	HEXDC_ENST00000577944.1_Missense_Mutation_p.D331H|HEXDC_ENST00000337014.6_Missense_Mutation_p.D331H			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	331					carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	beta-N-acetylhexosaminidase activity (GO:0004563)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			AGGAGGATTTGATGAAGATGT	0.572																																						ENST00000337014.6																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16						c.(991-993)Gat>Cat		hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing							120.0	133.0	129.0					17																	80398881		1852	4094	5946	SO:0001583	missense	284004				carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding	g.chr17:80398881G>C	AK074405	CCDS42402.1	17q25.3	2011-12-19			ENSG00000169660	ENSG00000169660			26307	protein-coding gene	gene with protein product						12477932	Standard	NM_173620		Approved	FLJ23825	uc002kev.4	Q8WVB3		ENST00000327949.9:c.991G>C	17.37:g.80398881G>C	ENSP00000332634:p.Asp331His					HEXDC_ENST00000327949.9_Missense_Mutation_p.D331H|HEXDC_ENST00000577944.1_Missense_Mutation_p.D331H	p.D331H	NM_173620.2	NP_775891.2	Q8WVB3	HEXDC_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)		10	1465	+	Breast(20;0.00106)|all_neural(118;0.0804)		331					B7UUP6|Q8IYN4|Q8TE81	Missense_Mutation	SNP	ENST00000327949.9	37	c.991G>C		.	.	.	.	.	.	.	.	.	.	G	7.953	0.745286	0.15710	.	.	ENSG00000169660	ENST00000337014;ENST00000327949	T;T	0.34072	1.38;1.43	4.85	-5.52	0.02560	.	0.815881	0.11537	N	0.554131	T	0.34861	0.0912	L	0.28400	0.85	0.09310	N	1	P;D	0.69078	0.899;0.997	B;D	0.63597	0.428;0.916	T	0.26744	-1.0094	10	0.38643	T	0.18	0.2707	6.8784	0.24158	0.6496:0.0:0.1792:0.1712	.	331;331	Q8WVB3;Q8WVB3-2	HEXDC_HUMAN;.	H	331	ENSP00000337854:D331H;ENSP00000332634:D331H	ENSP00000332634:D331H	D	+	1	0	HEXDC	77992170	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.528000	0.06193	-0.670000	0.05282	-0.253000	0.11424	GAT		0.572	HEXDC-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000443513.1	NM_173620		123	130	0	0	0	1	0	123	130				
TTC12	54970	broad.mit.edu	37	11	113222881	113222881	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:113222881A>T	ENST00000529221.1	+	16	1503	c.1398A>T	c.(1396-1398)agA>agT	p.R466S	TTC12_ENST00000314756.3_Missense_Mutation_p.R466S|TTC12_ENST00000478125.1_3'UTR|TTC12_ENST00000393020.1_Missense_Mutation_p.R466S|TTC12_ENST00000483239.2_Missense_Mutation_p.R472S	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	466										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		CTACCCGAAGACACATGGCGG	0.498																																						ENST00000393020.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1396-1398)agA>agT		tetratricopeptide repeat domain 12							133.0	128.0	130.0					11																	113222881		2201	4296	6497	SO:0001583	missense	54970						binding	g.chr11:113222881A>T	AK000542	CCDS8360.2	11q23.2	2013-01-10			ENSG00000149292	ENSG00000149292		"""Tetratricopeptide (TTC) repeat domain containing"""	23700	protein-coding gene	gene with protein product		610732				12964006	Standard	XM_005271607		Approved	FLJ13859, FLJ20535, TPARM	uc001pnu.3	Q9H892	OTTHUMG00000142832	ENST00000529221.1:c.1398A>T	11.37:g.113222881A>T	ENSP00000433757:p.Arg466Ser					TTC12_ENST00000478125.1_3'UTR|TTC12_ENST00000529221.1_Missense_Mutation_p.R466S|TTC12_ENST00000483239.2_Missense_Mutation_p.R472S|TTC12_ENST00000314756.3_Missense_Mutation_p.R466S	p.R466S			Q9H892	TTC12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)	16	1803	+		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)	466					Q8N5H9|Q9NWY3	Missense_Mutation	SNP	ENST00000529221.1	37	c.1398A>T	CCDS8360.2	.	.	.	.	.	.	.	.	.	.	A	4.830	0.154312	0.09236	.	.	ENSG00000149292	ENST00000529221;ENST00000314756;ENST00000393020;ENST00000483239	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.29	-0.00326	0.14026	Armadillo-like helical (1);Armadillo-type fold (1);	0.882560	0.09574	N	0.783828	T	0.36580	0.0972	L	0.50919	1.6	0.09310	N	1	B;B	0.14438	0.01;0.01	B;B	0.06405	0.002;0.002	T	0.27739	-1.0065	10	0.32370	T	0.25	-3.5475	4.9843	0.14182	0.4951:0.1602:0.3447:0.0	.	466;466	A8K8G6;Q9H892	.;TTC12_HUMAN	S	466;466;466;472	ENSP00000433757:R466S;ENSP00000315160:R466S;ENSP00000376743:R466S;ENSP00000419652:R472S	ENSP00000315160:R466S	R	+	3	2	TTC12	112728091	0.006000	0.16342	0.057000	0.19452	0.016000	0.09150	-0.077000	0.11394	0.095000	0.17434	0.533000	0.62120	AGA		0.498	TTC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286455.2	NM_017868		24	31	0	0	0	1	0	24	31				
PRR22	163154	broad.mit.edu	37	19	5783178	5783178	+	Silent	SNP	C	C	G	rs527872891		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:5783178C>G	ENST00000419421.2	-	3	1184	c.1080G>C	c.(1078-1080)gcG>gcC	p.A360A		NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN	proline rich 22	360										endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						CCTCGTCGAGCGCCTTGAAGT	0.632																																						ENST00000419421.2																			0				endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						c.(1078-1080)gcG>gcC		proline rich 22							35.0	38.0	37.0					19																	5783178		2200	4296	6496	SO:0001819	synonymous_variant	163154							g.chr19:5783178C>G	BC023278	CCDS45933.1	19p13.3	2012-12-20			ENSG00000212123	ENSG00000212123			28354	protein-coding gene	gene with protein product						12477932	Standard	NM_001134316		Approved	MGC24975	uc010xiv.1	Q8IZ63	OTTHUMG00000180553	ENST00000419421.2:c.1080G>C	19.37:g.5783178C>G							p.A360A	NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN			3	1184	-			358					E9PB31	Silent	SNP	ENST00000419421.2	37	c.1080G>C	CCDS45933.1																																																																																				0.632	PRR22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368523.1	NM_153359		31	42	0	0	0	1	0	31	42				
COL11A1	1301	broad.mit.edu	37	1	103379927	103379927	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:103379927G>A	ENST00000370096.3	-	52	4271	c.3959C>T	c.(3958-3960)cCt>cTt	p.P1320L	COL11A1_ENST00000353414.4_Missense_Mutation_p.P1281L|COL11A1_ENST00000358392.2_Missense_Mutation_p.P1332L|COL11A1_ENST00000512756.1_Missense_Mutation_p.P1204L	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1320	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)		AGGTTCCCCAGGAGGACCAGG	0.323																																						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.(3994-3996)cCt>cTt		collagen, type XI, alpha 1							35.0	36.0	35.0					1																	103379927		2203	4299	6502	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.chr1:103379927G>A	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.3959C>T	1.37:g.103379927G>A	ENSP00000359114:p.Pro1320Leu					COL11A1_ENST00000370096.3_Missense_Mutation_p.P1320L|COL11A1_ENST00000512756.1_Missense_Mutation_p.P1204L|COL11A1_ENST00000353414.4_Missense_Mutation_p.P1281L	p.P1332L	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	52	4312	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1320			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.3995C>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829461	0.71258	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.96685	-4.09;-4.09;-4.09;-4.09	5.75	5.75	0.90469	.	0.058104	0.64402	D	0.000001	D	0.97642	0.9227	M	0.82193	2.58	0.80722	D	1	P;D;P;D;P	0.56746	0.799;0.977;0.785;0.961;0.873	B;P;P;P;P	0.55923	0.395;0.787;0.598;0.617;0.599	D	0.97885	1.0294	10	0.87932	D	0	.	19.9598	0.97242	0.0:0.0:1.0:0.0	.	1204;1281;1332;1320;540	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	L	1320;1332;1281;540;1204	ENSP00000359114:P1320L;ENSP00000351163:P1332L;ENSP00000302551:P1281L;ENSP00000426533:P1204L	ENSP00000302551:P1281L	P	-	2	0	COL11A1	103152515	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.455000	0.80726	2.716000	0.92895	0.655000	0.94253	CCT		0.323	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		4	13	0	0	0	1	0	4	13				
DNAH5	1767	broad.mit.edu	37	5	13753519	13753519	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr5:13753519C>A	ENST00000265104.4	-	63	10799	c.10695G>T	c.(10693-10695)gaG>gaT	p.E3565D		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3565					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAATCAACATCTCACTGAGAT	0.403									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(10693-10695)gaG>gaT		dynein, axonemal, heavy chain 5							137.0	131.0	133.0					5																	13753519		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13753519C>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.10695G>T	5.37:g.13753519C>A	ENSP00000265104:p.Glu3565Asp						p.E3565D	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			63	10799	-	Lung NSC(4;0.00476)		3565					Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.10695G>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	10.28	1.306022	0.23736	.	.	ENSG00000039139	ENST00000265104	T	0.23950	1.88	5.77	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.16471	0.0396	N	0.25485	0.75	0.50813	D	0.999891	B	0.06786	0.001	B	0.08055	0.003	T	0.08351	-1.0726	10	0.21540	T	0.41	.	9.2008	0.37258	0.0:0.7713:0.0:0.2287	.	3565	Q8TE73	DYH5_HUMAN	D	3565	ENSP00000265104:E3565D	ENSP00000265104:E3565D	E	-	3	2	DNAH5	13806519	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	1.966000	0.40481	1.584000	0.49913	0.655000	0.94253	GAG		0.403	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		36	103	1	0	5.71845e-15	1	7.57231e-15	36	103				
DHX8	1659	broad.mit.edu	37	17	41582089	41582089	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:41582089G>T	ENST00000262415.3	+	12	1696	c.1624G>T	c.(1624-1626)Gcc>Tcc	p.A542S	DHX8_ENST00000540306.1_Missense_Mutation_p.A542S	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	542					ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GAAGAAGCATGCCTTTGGGGG	0.493																																					NSCLC(56;1548 1661 49258 49987)	ENST00000262415.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(1624-1626)Gcc>Tcc		DEAH (Asp-Glu-Ala-His) box polypeptide 8							161.0	162.0	162.0					17																	41582089		2203	4300	6503	SO:0001583	missense	1659					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr17:41582089G>T	D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"""DEAH-boxes"""	2749	protein-coding gene	gene with protein product		600396	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"""	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.1624G>T	17.37:g.41582089G>T	ENSP00000262415:p.Ala542Ser					DHX8_ENST00000540306.1_Missense_Mutation_p.A542S	p.A542S	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.08)	12	1696	+		Breast(137;0.00908)	542						Missense_Mutation	SNP	ENST00000262415.3	37	c.1624G>T	CCDS11464.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.293830	0.60086	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	T;T	0.08807	3.05;3.05	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.07413	0.0187	N	0.17474	0.49	0.80722	D	1	B;B	0.29162	0.235;0.024	B;B	0.31495	0.131;0.016	T	0.44982	-0.9292	10	0.23891	T	0.37	.	18.0709	0.89405	0.0:0.0:1.0:0.0	.	542;542	F5H658;Q14562	.;DHX8_HUMAN	S	542	ENSP00000437886:A542S;ENSP00000262415:A542S	ENSP00000262415:A542S	A	+	1	0	DHX8	38937615	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.752000	0.98900	2.526000	0.85167	0.555000	0.69702	GCC		0.493	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1			63	113	1	0	5.82218e-30	1	8.44693e-30	63	113				
PKHD1L1	93035	broad.mit.edu	37	8	110520439	110520439	+	Silent	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr8:110520439C>A	ENST00000378402.5	+	70	11445	c.11341C>A	c.(11341-11343)Cga>Aga	p.R3781R		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3781					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.R3785R(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CACAGAAACTCGAAGACTTTC	0.393										HNSCC(38;0.096)																												ENST00000378402.5																			1	Substitution - coding silent(1)	p.R3785R(1)	lung(1)	NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(11341-11343)Cga>Aga		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							188.0	185.0	186.0					8																	110520439		1866	4096	5962	SO:0001819	synonymous_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110520439C>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.11341C>A	8.37:g.110520439C>A		HNSCC(38;0.096)					p.R3781R	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		70	11445	+			3781					Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	c.11341C>A	CCDS47911.1																																																																																				0.393	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		23	150	1	0	1.85244e-09	1	2.2717e-09	23	150				
CHTF18	63922	broad.mit.edu	37	16	845787	845787	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr16:845787G>C	ENST00000262315.9	+	17	2341	c.2278G>C	c.(2278-2280)Gat>Cat	p.D760H	CHTF18_ENST00000455171.2_Missense_Mutation_p.D788H|CHTF18_ENST00000317063.6_Missense_Mutation_p.D969H	NM_022092.2	NP_071375.1	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	760					cell cycle (GO:0007049)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				CCTGCTCCTCGATGCCCTCTG	0.692																																						ENST00000317063.6																			0				endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11						c.(2905-2907)Gat>Cat		CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)							18.0	26.0	24.0					16																	845787		2116	4206	6322	SO:0001583	missense	63922				cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr16:845787G>C	BC018184	CCDS45371.1	16p13.3	2010-04-21	2003-12-09		ENSG00000127586	ENSG00000127586		"""ATPases / AAA-type"""	18435	protein-coding gene	gene with protein product		613201	"""chromosome 16 open reading frame 41"""	C16orf41		12171929	Standard	NM_022092		Approved	CHL12, C321D2.4, Ctf18	uc002cke.4	Q8WVB6	OTTHUMG00000047838	ENST00000262315.9:c.2278G>C	16.37:g.845787G>C	ENSP00000262315:p.Asp760His					CHTF18_ENST00000262315.9_Missense_Mutation_p.D760H|CHTF18_ENST00000455171.2_Missense_Mutation_p.D788H	p.D969H			Q8WVB6	CTF18_HUMAN			19	2905	+		Hepatocellular(780;0.00335)	760					B7ZBA2|D3DU68|Q7Z6Y4|Q7Z6Y6|Q9BR83|Q9BRG5|Q9H7K3	Missense_Mutation	SNP	ENST00000262315.9	37	c.2905G>C	CCDS45371.1	.	.	.	.	.	.	.	.	.	.	g	14.99	2.700026	0.48307	.	.	ENSG00000127586	ENST00000317063;ENST00000455171;ENST00000262315	T;T;T	0.18657	2.2;2.34;2.35	4.31	4.31	0.51392	.	0.115747	0.64402	D	0.000015	T	0.48589	0.1508	M	0.85777	2.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.99	T	0.55509	-0.8130	10	0.87932	D	0	-26.8424	11.5347	0.50631	0.0:0.0:0.8203:0.1797	.	788;760	Q8WVB6-2;Q8WVB6	.;CTF18_HUMAN	H	969;788;760	ENSP00000313029:D969H;ENSP00000406252:D788H;ENSP00000262315:D760H	ENSP00000262315:D760H	D	+	1	0	CHTF18	785788	1.000000	0.71417	0.094000	0.20943	0.175000	0.22909	3.601000	0.54059	1.969000	0.57287	0.450000	0.29827	GAT		0.692	CHTF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109061.3	NM_022092		3	19	0	0	0	1	0	3	19				
MYH1	4619	broad.mit.edu	37	17	10404461	10404461	+	Missense_Mutation	SNP	A	A	G	rs188804570		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:10404461A>G	ENST00000226207.5	-	27	3798	c.3704T>C	c.(3703-3705)cTt>cCt	p.L1235P	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1235					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GTTACTAGCAAGGTCATCGAT	0.438													A|||	1	0.000199681	0.0008	0.0	5008	,	,		20613	0.0		0.0	False		,,,				2504	0.0					ENST00000226207.5																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(3703-3705)cTt>cCt		myosin, heavy chain 1, skeletal muscle, adult							160.0	132.0	141.0					17																	10404461		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10404461A>G		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.3704T>C	17.37:g.10404461A>G	ENSP00000226207:p.Leu1235Pro					CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.L1235P	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			27	3798	-			1235					Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.3704T>C	CCDS11155.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	20.9	4.066822	0.76301	.	.	ENSG00000109061	ENST00000226207	T	0.80994	-1.44	5.51	5.51	0.81932	Myosin tail (1);	0.000000	0.34133	U	0.004227	D	0.93275	0.7857	H	0.97540	4.025	0.80722	D	1	D	0.61080	0.989	D	0.71184	0.972	D	0.95539	0.8610	10	0.87932	D	0	.	15.9255	0.79611	1.0:0.0:0.0:0.0	.	1235	P12882	MYH1_HUMAN	P	1235	ENSP00000226207:L1235P	ENSP00000226207:L1235P	L	-	2	0	MYH1	10345186	1.000000	0.71417	0.955000	0.39395	0.974000	0.67602	7.511000	0.81718	2.221000	0.72209	0.528000	0.53228	CTT		0.438	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		16	66	0	0	0	1	0	16	66				
USP8	9101	broad.mit.edu	37	15	50784907	50784907	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr15:50784907T>G	ENST00000396444.3	+	15	2582	c.2244T>G	c.(2242-2244)tgT>tgG	p.C748W	USP8_ENST00000433963.1_Missense_Mutation_p.C748W|RP11-562A8.5_ENST00000560159.1_lincRNA|USP8_ENST00000425032.3_Missense_Mutation_p.C642W|USP8_ENST00000307179.4_Missense_Mutation_p.C748W	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	748					cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		GGCCAACATGTTATCCTAAAG	0.408																																						ENST00000433963.1																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(2242-2244)tgT>tgG		ubiquitin specific peptidase 8							126.0	115.0	119.0					15																	50784907		2196	4294	6490	SO:0001583	missense	9101				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr15:50784907T>G	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.2244T>G	15.37:g.50784907T>G	ENSP00000379721:p.Cys748Trp					USP8_ENST00000425032.3_Missense_Mutation_p.C642W|USP8_ENST00000396444.3_Missense_Mutation_p.C748W|USP8_ENST00000307179.4_Missense_Mutation_p.C748W	p.C748W	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN		all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)	16	2744	+			748					B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	ENST00000396444.3	37	c.2244T>G	CCDS10137.1	.	.	.	.	.	.	.	.	.	.	T	11.05	1.526256	0.27299	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032	T;T;T;T	0.17370	2.28;2.28;2.28;2.3	5.22	0.938	0.19500	.	1.228230	0.04933	N	0.457182	T	0.09555	0.0235	N	0.14661	0.345	0.30116	N	0.806148	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.34279	-0.9835	10	0.38643	T	0.18	-0.4136	1.7384	0.02947	0.1307:0.4218:0.1278:0.3197	.	642;748	B4DKA8;P40818	.;UBP8_HUMAN	W	748;748;748;642	ENSP00000379721:C748W;ENSP00000405537:C748W;ENSP00000302239:C748W;ENSP00000412682:C642W	ENSP00000302239:C748W	C	+	3	2	USP8	48572199	0.969000	0.33509	0.488000	0.27440	0.982000	0.71751	1.368000	0.34216	0.016000	0.14998	-0.182000	0.12963	TGT		0.408	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154		7	34	0	0	0	1	0	7	34				
OBSCN	84033	broad.mit.edu	37	1	228400265	228400265	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:228400265G>C	ENST00000422127.1	+	2	825	c.781G>C	c.(781-783)Gtg>Ctg	p.V261L	OBSCN_ENST00000570156.2_Missense_Mutation_p.V261L|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.V261L|OBSCN_ENST00000366707.4_5'UTR|C1orf145_ENST00000295012.5_Intron	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	261	Ig-like 3.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGCTGCTACGTGACCGGCGA	0.711																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(781-783)Gtg>Ctg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							38.0	45.0	43.0					1																	228400265		2141	4218	6359	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228400265G>C	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.781G>C	1.37:g.228400265G>C	ENSP00000409493:p.Val261Leu					OBSCN_ENST00000422127.1_Missense_Mutation_p.V261L|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|C1orf145_ENST00000295012.5_Intron|OBSCN_ENST00000284548.11_Missense_Mutation_p.V261L	p.V261L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			2	855	+		Prostate(94;0.0405)	261			Ig-like 3.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.781G>C	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	g	17.61	3.431870	0.62844	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.74421	-0.84;-0.84	4.26	4.26	0.50523	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.197031	0.32068	N	0.006629	D	0.84893	0.5573	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.85506	0.1194	10	0.42905	T	0.14	.	16.7031	0.85364	0.0:0.0:1.0:0.0	.	261;261	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	L	261	ENSP00000284548:V261L;ENSP00000409493:V261L	ENSP00000284548:V261L	V	+	1	0	OBSCN	226466888	1.000000	0.71417	0.963000	0.40424	0.966000	0.64601	9.563000	0.98148	1.925000	0.55765	0.556000	0.70494	GTG		0.711	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		27	25	0	0	0	1	0	27	25				
CHST2	9435	broad.mit.edu	37	3	142840969	142840969	+	Silent	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr3:142840969G>C	ENST00000309575.3	+	2	2695	c.1311G>C	c.(1309-1311)cgG>cgC	p.R437R		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	437					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|multicellular organismal development (GO:0007275)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						AGACACTACGGAGAGTGTACG	0.612																																						ENST00000309575.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						c.(1309-1311)cgG>cgC		carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2							77.0	70.0	72.0					3																	142840969		2203	4300	6503	SO:0001819	synonymous_variant	9435				inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr3:142840969G>C	BC042160	CCDS3129.1	3q24	2007-03-14			ENSG00000175040	ENSG00000175040		"""Sulfotransferases, membrane-bound"""	1970	protein-coding gene	gene with protein product		603798				10049591	Standard	NM_004267		Approved	C6ST	uc003evm.3	Q9Y4C5	OTTHUMG00000159351	ENST00000309575.3:c.1311G>C	3.37:g.142840969G>C							p.R437R	NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN			2	2695	+			437					D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Silent	SNP	ENST00000309575.3	37	c.1311G>C	CCDS3129.1																																																																																				0.612	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354850.1	NM_004267		15	26	0	0	0	1	0	15	26				
LTK	4058	broad.mit.edu	37	15	41803370	41803370	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr15:41803370C>G	ENST00000263800.6	-	7	1085	c.989G>C	c.(988-990)gGc>gCc	p.G330A	LTK_ENST00000355166.5_Intron|LTK_ENST00000561619.1_Intron|LTK_ENST00000453182.2_Intron	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	330					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)		ACCCCTGTAgccgccgccgcc	0.731										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.(988-990)gGc>gCc		leukocyte receptor tyrosine kinase							8.0	9.0	9.0					15																	41803370		1302	2734	4036	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.chr15:41803370C>G	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.989G>C	15.37:g.41803370C>G	ENSP00000263800:p.Gly330Ala	TSP Lung(18;0.14)				LTK_ENST00000561619.1_Intron|LTK_ENST00000355166.5_Intron|LTK_ENST00000453182.2_Intron	p.G330A	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)	7	1085	-		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)	330					A6NNJ8|B4DL89|E9PFX4	Missense_Mutation	SNP	ENST00000263800.6	37	c.989G>C	CCDS10077.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.249342	0.59103	.	.	ENSG00000062524	ENST00000360087;ENST00000263800	T	0.73681	-0.77	3.93	3.93	0.45458	.	0.000000	0.33023	U	0.005367	T	0.80110	0.4563	M	0.67700	2.07	0.80722	D	1	B	0.25105	0.118	B	0.43867	0.434	T	0.81841	-0.0747	10	0.72032	D	0.01	.	13.5631	0.61802	0.0:1.0:0.0:0.0	.	330	P29376	LTK_HUMAN	A	330	ENSP00000263800:G330A	ENSP00000263800:G330A	G	-	2	0	LTK	39590662	1.000000	0.71417	0.992000	0.48379	0.898000	0.52572	4.839000	0.62810	2.040000	0.60383	0.644000	0.83932	GGC		0.731	LTK-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252690.2			4	2	0	0	0	1	0	4	2				
C4orf50	389197	broad.mit.edu	37	4	5961316	5961316	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:5961316G>C	ENST00000324058.5	-	7	706	c.617C>G	c.(616-618)aCg>aGg	p.T206R	C4orf50_ENST00000531445.1_Missense_Mutation_p.T680R			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	206										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						TGCCAGGCACGTTCCAGGATC	0.562																																						ENST00000531445.1																			0				breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						c.(2038-2040)aCg>aGg		chromosome 4 open reading frame 50							64.0	64.0	64.0					4																	5961316		2203	4300	6503	SO:0001583	missense	389197							g.chr4:5961316G>C	BC140710		4p16.1	2009-04-14			ENSG00000181215	ENSG00000181215			33766	protein-coding gene	gene with protein product							Standard	XM_003119922		Approved	FLJ46481		Q6ZRC1	OTTHUMG00000149971	ENST00000324058.5:c.617C>G	4.37:g.5961316G>C	ENSP00000317287:p.Thr206Arg					C4orf50_ENST00000324058.5_Missense_Mutation_p.T206R	p.T680R			Q6ZRC1	CD050_HUMAN			7	2085	-			206						Missense_Mutation	SNP	ENST00000324058.5	37	c.2039C>G		.	.	.	.	.	.	.	.	.	.	G	8.357	0.832144	0.16820	.	.	ENSG00000181215	ENST00000531445;ENST00000324058	T;T	0.27402	1.67;1.67	3.85	-6.32	0.01995	.	3.496390	0.01356	N	0.012073	T	0.19208	0.0461	L	0.46157	1.445	0.09310	N	1	P	0.38335	0.627	B	0.30943	0.122	T	0.16482	-1.0401	10	0.23302	T	0.38	7.0274	3.394	0.07299	0.5708:0.1247:0.1785:0.126	.	206	Q6ZRC1	CD050_HUMAN	R	680;206	ENSP00000437121:T680R;ENSP00000317287:T206R	ENSP00000317287:T206R	T	-	2	0	C4orf50	6012217	0.000000	0.05858	0.000000	0.03702	0.113000	0.19764	-0.872000	0.04219	-2.247000	0.00703	-0.150000	0.13652	ACG		0.562	C4orf50-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_207405		10	18	0	0	0	1	0	10	18				
DLGAP3	58512	broad.mit.edu	37	1	35370284	35370284	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:35370284T>G	ENST00000373347.1	-	3	969	c.701A>C	c.(700-702)cAc>cCc	p.H234P	DLGAP3_ENST00000495979.1_5'Flank|DLGAP3_ENST00000235180.4_Missense_Mutation_p.H234P			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	234	Poly-His.				cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CCGGGACtggtggtggtggtg	0.652																																						ENST00000373347.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46						c.(700-702)cAc>cCc		discs, large (Drosophila) homolog-associated protein 3							90.0	78.0	82.0					1																	35370284		2203	4300	6503	SO:0001583	missense	58512				cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		g.chr1:35370284T>G	AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.701A>C	1.37:g.35370284T>G	ENSP00000362444:p.His234Pro					DLGAP3_ENST00000235180.4_Missense_Mutation_p.H234P	p.H234P			O95886	DLGP3_HUMAN			3	969	-		Myeloproliferative disorder(586;0.0393)	234			Poly-His.		Q5TDD5|Q9H3X7	Missense_Mutation	SNP	ENST00000373347.1	37	c.701A>C	CCDS30670.1	.	.	.	.	.	.	.	.	.	.	T	11.26	1.585810	0.28268	.	.	ENSG00000116544	ENST00000373347;ENST00000235180	T;T	0.28069	1.63;1.63	4.72	4.72	0.59763	.	0.197337	0.34555	N	0.003879	T	0.11623	0.0283	N	0.08118	0	0.32834	D	0.504376	P	0.38978	0.652	B	0.29716	0.106	T	0.11251	-1.0595	10	0.30078	T	0.28	-15.8707	5.9848	0.19428	0.0:0.0862:0.1669:0.747	.	234	O95886	DLGP3_HUMAN	P	234	ENSP00000362444:H234P;ENSP00000235180:H234P	ENSP00000235180:H234P	H	-	2	0	DLGAP3	35142871	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.248000	0.43160	1.896000	0.54893	0.460000	0.39030	CAC		0.652	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234		45	30	0	0	0	1	0	45	30				
BCAS2	10286	broad.mit.edu	37	1	115110808	115110808	+	Nonsense_Mutation	SNP	A	A	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:115110808A>C	ENST00000369541.3	-	7	668	c.621T>G	c.(619-621)taT>taG	p.Y207*	BCAS2_ENST00000485021.1_5'UTR	NM_005872.2	NP_005863.1	O75934	SPF27_HUMAN	breast carcinoma amplified sequence 2	207					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	cell junction (GO:0030054)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)				biliary_tract(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)	13	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCTTAATTTGATAGATTTCAT	0.373																																						ENST00000369541.3																			0				biliary_tract(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)	13						c.(619-621)taT>taG		breast carcinoma amplified sequence 2							209.0	201.0	204.0					1																	115110808		2203	4300	6503	SO:0001587	stop_gained	10286				mRNA processing|RNA splicing, via transesterification reactions	nucleolus|spliceosomal complex	protein binding	g.chr1:115110808A>C	AB020623	CCDS874.1	1p13.2	2010-01-25			ENSG00000116752	ENSG00000116752			975	protein-coding gene	gene with protein product		605783				9731529, 10403562	Standard	NM_005872		Approved	DAM1, SPF27, Snt309	uc001efa.3	O75934	OTTHUMG00000011898	ENST00000369541.3:c.621T>G	1.37:g.115110808A>C	ENSP00000358554:p.Tyr207*					BCAS2_ENST00000485021.1_5'UTR	p.Y207*	NM_005872.2	NP_005863.1	O75934	SPF27_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	7	668	-	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	207					Q6FGS0	Nonsense_Mutation	SNP	ENST00000369541.3	37	c.621T>G	CCDS874.1	.	.	.	.	.	.	.	.	.	.	A	19.30	3.801528	0.70682	.	.	ENSG00000116752	ENST00000369541	.	.	.	5.78	4.49	0.54785	.	0.481828	0.25208	N	0.032329	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-6.7611	5.5813	0.17250	0.7239:0.0:0.1266:0.1495	.	.	.	.	X	207	.	ENSP00000358554:Y207X	Y	-	3	2	BCAS2	114912331	0.991000	0.36638	1.000000	0.80357	0.997000	0.91878	0.614000	0.24314	2.333000	0.79357	0.533000	0.62120	TAT		0.373	BCAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032871.1	NM_005872		35	96	0	0	0	1	0	35	96				
EPDR1	54749	broad.mit.edu	37	7	37989816	37989816	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:37989816G>C	ENST00000199448.4	+	3	872	c.493G>C	c.(493-495)Ggc>Cgc	p.G165R	EPDR1_ENST00000423717.1_3'UTR|EPDR1_ENST00000559325.1_Missense_Mutation_p.G285R|EPDR1_ENST00000425345.1_Missense_Mutation_p.G104R|EPDR1_ENST00000476620.1_Missense_Mutation_p.G63R	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	165					cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						AACCTGGATTGGCATCTATAC	0.358																																						ENST00000199448.4																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.(493-495)Ggc>Cgc		ependymin related 1							50.0	52.0	51.0					7																	37989816		2203	4300	6503	SO:0001583	missense	54749				cell-matrix adhesion	extracellular region	calcium ion binding	g.chr7:37989816G>C	BC018299	CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1	7p14.1	2013-07-31	2013-07-31		ENSG00000086289	ENSG00000086289			17572	protein-coding gene	gene with protein product			"""ependymin related protein 1 (zebrafish)"""			11749721, 11248421	Standard	NM_001242946		Approved	MERP-1, MERP1, UCC1, EPDR	uc003tfp.4	Q9UM22	OTTHUMG00000102187	ENST00000199448.4:c.493G>C	7.37:g.37989816G>C	ENSP00000199448:p.Gly165Arg					EPDR1_ENST00000425345.1_Missense_Mutation_p.G104R|EPDR1_ENST00000559325.1_Missense_Mutation_p.G285R|EPDR1_ENST00000476620.1_Missense_Mutation_p.G63R|EPDR1_ENST00000423717.1_3'UTR	p.G165R	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN			3	872	+			165					A8K4C0|C9JYS3|Q06BL0|Q99M77	Missense_Mutation	SNP	ENST00000199448.4	37	c.493G>C	CCDS5454.2	.	.	.	.	.	.	.	.	.	.	G	25.2	4.610875	0.87258	.	.	ENSG00000086289	ENST00000476620;ENST00000199448;ENST00000425345	.	.	.	4.8	4.8	0.61643	.	0.054394	0.64402	D	0.000001	T	0.79545	0.4464	M	0.78637	2.42	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.985;0.995	T	0.81801	-0.0766	9	0.66056	D	0.02	-20.3287	17.1506	0.86777	0.0:0.0:1.0:0.0	.	104;285	C9JYS3;A4D1W8	.;.	R	63;285;104	.	ENSP00000199448:G285R	G	+	1	0	EPDR1	37956341	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.601000	0.98297	2.670000	0.90874	0.655000	0.94253	GGC		0.358	EPDR1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220037.3	NM_017549		5	20	0	0	0	1	0	5	20				
GRIN2A	2903	broad.mit.edu	37	16	9923360	9923360	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr16:9923360C>A	ENST00000396573.2	-	10	2236	c.1927G>T	c.(1927-1929)Gct>Tct	p.A643S	GRIN2A_ENST00000396575.2_Missense_Mutation_p.A643S|GRIN2A_ENST00000330684.3_Missense_Mutation_p.A643S|GRIN2A_ENST00000562109.1_Missense_Mutation_p.A643S|GRIN2A_ENST00000535259.1_Missense_Mutation_p.A486S|GRIN2A_ENST00000404927.2_Missense_Mutation_p.A643S	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	643					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)	p.A643S(1)		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)	GTGTAGCTAGCCAGGAATATG	0.507																																						ENST00000396573.2																			1	Substitution - Missense(1)	p.A643S(1)	lung(1)	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.(1927-1929)Gct>Tct		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						132.0	111.0	118.0					16																	9923360		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.chr16:9923360C>A		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.1927G>T	16.37:g.9923360C>A	ENSP00000379818:p.Ala643Ser					GRIN2A_ENST00000535259.1_Missense_Mutation_p.A486S|GRIN2A_ENST00000330684.3_Missense_Mutation_p.A643S|GRIN2A_ENST00000404927.2_Missense_Mutation_p.A643S|GRIN2A_ENST00000562109.1_Missense_Mutation_p.A643S|GRIN2A_ENST00000396575.2_Missense_Mutation_p.A643S	p.A643S	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			10	2236	-			643					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.1927G>T	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	31	5.059776	0.93846	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8	5.27	5.27	0.74061	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.60051	0.2239	L	0.37850	1.14	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.97110	0.999;1.0;0.994	T	0.56486	-0.7971	9	.	.	.	.	17.9016	0.88906	0.0:1.0:0.0:0.0	.	486;643;643	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	S	643;643;486;643;643	ENSP00000379818:A643S;ENSP00000385872:A643S;ENSP00000441572:A486S;ENSP00000332549:A643S;ENSP00000379820:A643S	.	A	-	1	0	GRIN2A	9830861	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	7.681000	0.84073	2.465000	0.83290	0.655000	0.94253	GCT		0.507	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			40	11	1	0	4.32679e-17	1	5.81652e-17	40	11				
ZFHX4	79776	broad.mit.edu	37	8	77618402	77618402	+	Silent	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr8:77618402G>C	ENST00000521891.2	+	2	2527	c.2079G>C	c.(2077-2079)acG>acC	p.T693T	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Silent_p.T693T|ZFHX4_ENST00000518282.1_Silent_p.T693T|ZFHX4_ENST00000050961.6_Silent_p.T693T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	693					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)			AGAGTTACACGTGTGGCTATA	0.507										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.(2077-2079)acG>acC		zinc finger homeobox 4							51.0	54.0	53.0					8																	77618402		2178	4293	6471	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77618402G>C		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.2079G>C	8.37:g.77618402G>C		HNSCC(33;0.089)				ZFHX4_ENST00000455469.2_Silent_p.T693T|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Silent_p.T693T|ZFHX4_ENST00000050961.6_Silent_p.T693T	p.T693T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	2527	+			693					G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.2079G>C	CCDS47878.2																																																																																				0.507	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		8	36	0	0	0	1	0	8	36				
BRD9	65980	broad.mit.edu	37	5	870640	870640	+	Silent	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr5:870640C>T	ENST00000467963.1	-	14	1639	c.1473G>A	c.(1471-1473)tcG>tcA	p.S491S	BRD9_ENST00000388890.4_Silent_p.S375S|BRD9_ENST00000323510.4_Silent_p.S395S|BRD9_ENST00000483173.1_Silent_p.S438S	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9	491					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			AGGACTTCATCGACATGAACT	0.493																																						ENST00000323510.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29						c.(1183-1185)tcG>tcA		bromodomain containing 9							154.0	134.0	140.0					5																	870640		2203	4300	6503	SO:0001819	synonymous_variant	65980						nucleic acid binding	g.chr5:870640C>T	AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310			25818	protein-coding gene	gene with protein product						12477932	Standard	NM_023924		Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.1473G>A	5.37:g.870640C>T						BRD9_ENST00000483173.1_Silent_p.S438S|BRD9_ENST00000388890.4_Silent_p.S375S|BRD9_ENST00000467963.1_Silent_p.S491S	p.S395S			Q9H8M2	BRD9_HUMAN	Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)		11	1184	-			491					A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	Silent	SNP	ENST00000467963.1	37	c.1185G>A	CCDS34127.2																																																																																				0.493	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354113.1	NM_023924		9	53	0	0	0	1	0	9	53				
COL3A1	1281	broad.mit.edu	37	2	189855056	189855056	+	Silent	SNP	A	A	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:189855056A>T	ENST00000304636.3	+	10	938	c.768A>T	c.(766-768)atA>atT	p.I256I	COL3A1_ENST00000317840.5_Silent_p.I256I	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	256	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	CAGCTGGGATACCTGGATTCC	0.343																																						ENST00000304636.3																			0				NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126						c.(766-768)atA>atT		collagen, type III, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						91.0	95.0	94.0					2																	189855056		2203	4299	6502	SO:0001819	synonymous_variant	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189855056A>T	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.768A>T	2.37:g.189855056A>T						COL3A1_ENST00000317840.5_Silent_p.I256I	p.I256I	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		10	938	+			256			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Silent	SNP	ENST00000304636.3	37	c.768A>T	CCDS2297.1																																																																																				0.343	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		12	9	0	0	0	1	0	12	9				
TRPM3	80036	broad.mit.edu	37	9	73151799	73151799	+	Silent	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:73151799C>A	ENST00000377110.3	-	25	4437	c.4194G>T	c.(4192-4194)tcG>tcT	p.S1398S	TRPM3_ENST00000396285.1_Silent_p.S1257S|TRPM3_ENST00000360823.2_Silent_p.S1260S|TRPM3_ENST00000396292.4_Silent_p.S1270S|TRPM3_ENST00000377105.1_Silent_p.S1257S|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000358082.3_Silent_p.S1260S|TRPM3_ENST00000396280.5_Silent_p.S1247S|TRPM3_ENST00000377106.1_Silent_p.S1270S|TRPM3_ENST00000408909.2_Silent_p.S1257S|TRPM3_ENST00000423814.3_Silent_p.S1425S|TRPM3_ENST00000357533.2_Silent_p.S1402S			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1423					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TGTCTATACACGATGATGGTC	0.507																																						ENST00000377110.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(4192-4194)tcG>tcT		transient receptor potential cation channel, subfamily M, member 3							105.0	98.0	101.0					9																	73151799		2203	4300	6503	SO:0001819	synonymous_variant	80036					integral to membrane	calcium channel activity	g.chr9:73151799C>A	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377110.3:c.4194G>T	9.37:g.73151799C>A						TRPM3_ENST00000423814.3_Silent_p.S1425S|TRPM3_ENST00000396280.5_Silent_p.S1247S|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000377106.1_Silent_p.S1270S|TRPM3_ENST00000396292.4_Silent_p.S1270S|TRPM3_ENST00000357533.2_Silent_p.S1402S|TRPM3_ENST00000358082.3_Silent_p.S1260S|TRPM3_ENST00000377105.1_Silent_p.S1257S|TRPM3_ENST00000396285.1_Silent_p.S1257S|TRPM3_ENST00000408909.2_Silent_p.S1257S|TRPM3_ENST00000360823.2_Silent_p.S1260S	p.S1398S	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN			25	4437	-			1423					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP	ENST00000377110.3	37	c.4194G>T	CCDS43835.1	.	.	.	.	.	.	.	.	.	.	C	2.159	-0.392614	0.04899	.	.	ENSG00000083067	ENST00000396280	.	.	.	6.02	-12.0	0.00017	.	.	.	.	.	T	0.31167	0.0788	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42515	-0.9447	4	.	.	.	-10.8752	2.2161	0.03960	0.2241:0.1865:0.118:0.4714	.	.	.	.	L	1247	.	.	V	-	1	0	TRPM3	72341619	0.000000	0.05858	0.009000	0.14445	0.991000	0.79684	-3.157000	0.00579	-2.944000	0.00296	-0.140000	0.14226	GTG		0.507	TRPM3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214158.3	NM_206945		33	44	1	0	1.30988e-24	1	1.85975e-24	33	44				
H1FOO	132243	broad.mit.edu	37	3	129270168	129270168	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr3:129270168G>C	ENST00000324382.2	+	5	1031	c.1026G>C	c.(1024-1026)caG>caC	p.Q342H	H1FOO_ENST00000503977.1_Missense_Mutation_p.Q203H	NM_153833.1	NP_722575.1	Q8IZA3	H1FOO_HUMAN	H1 histone family, member O, oocyte-specific	342					meiotic nuclear division (GO:0007126)|negative regulation of stem cell differentiation (GO:2000737)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of DNA methylation (GO:0044030)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|female germ cell nucleus (GO:0001674)|nucleosome (GO:0000786)|nucleus (GO:0005634)	nucleosomal DNA binding (GO:0031492)			endometrium(1)|lung(4)|skin(1)	6						TGTCCAGCCAGAGGGCTGAAG	0.537																																						ENST00000324382.2																			0				endometrium(1)|lung(4)|skin(1)	6						c.(1024-1026)caG>caC		H1 histone family, member O, oocyte-specific							17.0	20.0	19.0					3																	129270168		2203	4298	6501	SO:0001583	missense	132243				meiosis|nucleosome assembly	cytoplasm|nucleosome	DNA binding	g.chr3:129270168G>C	AY158091	CCDS3064.1	3q21.3	2011-01-27			ENSG00000178804	ENSG00000178804		"""Histones / Replication-independent"""	18463	protein-coding gene	gene with protein product						12408966	Standard	NM_153833		Approved		uc003emu.3	Q8IZA3	OTTHUMG00000159541	ENST00000324382.2:c.1026G>C	3.37:g.129270168G>C	ENSP00000319799:p.Gln342His					H1FOO_ENST00000503977.1_Missense_Mutation_p.Q203H	p.Q342H	NM_153833.1	NP_722575.1	Q8IZA3	H1FOO_HUMAN			5	1031	+			342					Q86WT7	Missense_Mutation	SNP	ENST00000324382.2	37	c.1026G>C	CCDS3064.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.201449	0.58234	.	.	ENSG00000178804	ENST00000324382;ENST00000503977	T;T	0.46819	0.88;0.86	4.89	4.89	0.63831	.	3.904070	0.00941	N	0.002828	T	0.48295	0.1492	L	0.44542	1.39	0.24313	N	0.99507	P	0.49253	0.921	B	0.39027	0.288	T	0.56153	-0.8026	10	0.62326	D	0.03	-11.6182	15.1657	0.72821	0.0:0.0:1.0:0.0	.	342	Q8IZA3	H1FOO_HUMAN	H	342;203	ENSP00000319799:Q342H;ENSP00000422964:Q203H	ENSP00000319799:Q342H	Q	+	3	2	H1FOO	130752858	0.039000	0.19947	0.413000	0.26509	0.110000	0.19582	2.607000	0.46300	2.435000	0.82474	0.561000	0.74099	CAG		0.537	H1FOO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356100.3	NM_153833		8	21	0	0	0	1	0	8	21				
OR52N1	79473	broad.mit.edu	37	11	5809393	5809393	+	Silent	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:5809393G>A	ENST00000317078.1	-	1	653	c.654C>T	c.(652-654)atC>atT	p.I218I	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	218						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		TAGTGTAGGAGATTGTAATGC	0.478																																						ENST00000317078.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31						c.(652-654)atC>atT		olfactory receptor, family 52, subfamily N, member 1							135.0	122.0	126.0					11																	5809393		2201	4296	6497	SO:0001819	synonymous_variant	79473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5809393G>A	AB065538	CCDS31398.1	11p15.4	2012-08-09			ENSG00000181001	ENSG00000181001		"""GPCR / Class A : Olfactory receptors"""	14853	protein-coding gene	gene with protein product							Standard	NM_001001913		Approved		uc010qzo.2	Q8NH53	OTTHUMG00000168800	ENST00000317078.1:c.654C>T	11.37:g.5809393G>A						TRIM5_ENST00000380027.1_Intron	p.I218I	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)	1	653	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	218					Q6IFF6	Silent	SNP	ENST00000317078.1	37	c.654C>T	CCDS31398.1																																																																																				0.478	OR52N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401142.1	NM_001001913		18	28	0	0	0	1	0	18	28				
UVRAG	7405	broad.mit.edu	37	11	75851967	75851967	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:75851967T>A	ENST00000356136.3	+	15	1851	c.1610T>A	c.(1609-1611)aTg>aAg	p.M537K	UVRAG_ENST00000532130.1_Missense_Mutation_p.M165K|UVRAG_ENST00000528420.1_Missense_Mutation_p.M436K|UVRAG_ENST00000538870.1_Missense_Mutation_p.M93K|UVRAG_ENST00000531818.1_Missense_Mutation_p.M165K|UVRAG_ENST00000533454.1_Missense_Mutation_p.M165K|UVRAG_ENST00000539288.1_Missense_Mutation_p.M165K	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	537					DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						GTCCCCTCCATGGGAGAGACC	0.498																																						ENST00000356136.3																			0				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						c.(1609-1611)aTg>aAg		UV radiation resistance associated							80.0	76.0	78.0					11																	75851967		2200	4292	6492	SO:0001583	missense	7405				DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding	g.chr11:75851967T>A	X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"""beclin 1 binding protein"""	602493	"""UV radiation resistance associated gene"""			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.1610T>A	11.37:g.75851967T>A	ENSP00000348455:p.Met537Lys					UVRAG_ENST00000539288.1_Missense_Mutation_p.M165K|UVRAG_ENST00000538870.1_Missense_Mutation_p.M93K|UVRAG_ENST00000532130.1_Missense_Mutation_p.M165K|UVRAG_ENST00000531818.1_Missense_Mutation_p.M165K|UVRAG_ENST00000533454.1_Missense_Mutation_p.M165K|UVRAG_ENST00000528420.1_Missense_Mutation_p.M436K	p.M537K	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN			15	1851	+			537					B3KTC1|O00392	Missense_Mutation	SNP	ENST00000356136.3	37	c.1610T>A	CCDS8241.1	.	.	.	.	.	.	.	.	.	.	T	0.006	-2.106261	0.00356	.	.	ENSG00000198382	ENST00000356136;ENST00000528420;ENST00000533454;ENST00000531818;ENST00000532130;ENST00000539288;ENST00000538870	T	0.39997	1.05	5.3	-6.83	0.01693	.	2.721960	0.00883	N	0.002154	T	0.20901	0.0503	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.0	T	0.29397	-1.0013	10	0.09843	T	0.71	9.3223	12.1714	0.54161	0.0:0.6126:0.2296:0.1578	.	93;537	B7Z6A0;Q9P2Y5	.;UVRAG_HUMAN	K	537;436;165;165;165;165;93	ENSP00000348455:M537K	ENSP00000348455:M537K	M	+	2	0	UVRAG	75529615	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.047000	0.01408	-0.963000	0.03600	-0.242000	0.12053	ATG		0.498	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383430.1	NM_003369		16	23	0	0	0	1	0	16	23				
PSG7	5676	broad.mit.edu	37	19	43430101	43430101	+	RNA	SNP	G	G	A	rs200190947		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:43430101G>A	ENST00000406070.2	-	0	1163				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				GTTAGAGTCCGCAAAGCAGGA	0.448																																						ENST00000446844.3																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)		G	VAL/ALA,VAL/ALA	1,4401		0,1,2200	162.0	171.0	168.0		701,1067	0.2	0.0	19		168	3,8597		0,3,4297	no	missense,missense	PSG7	NM_001206650.1,NM_002783.2	64,64	0,4,6497	AA,AG,GG		0.0349,0.0227,0.0308	,	234/298,356/420	43430101	4,12998	2201	4300	6501			5676				female pregnancy	extracellular region		g.chr19:43430101G>A			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43430101G>A						PSG7_ENST00000406070.2_RNA				Q13046	PSG7_HUMAN			0	1156	-		Prostate(69;0.00682)						Q15232	RNA	SNP	ENST00000406070.2	37																																																																																						0.448	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		88	143	0	0	0	1	0	88	143				
SCN7A	6332	broad.mit.edu	37	2	167298000	167298000	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:167298000T>C	ENST00000409855.1	-	14	2189	c.2063A>G	c.(2062-2064)gAg>gGg	p.E688G		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	688					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	CTCTACCCACTCTCCACAGAG	0.448																																						ENST00000409855.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						c.(2062-2064)gAg>gGg		sodium channel, voltage-gated, type VII, alpha subunit							77.0	80.0	79.0					2																	167298000		2203	4300	6503	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167298000T>C	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.2063A>G	2.37:g.167298000T>C	ENSP00000386796:p.Glu688Gly						p.E688G	NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN			14	2189	-			688						Missense_Mutation	SNP	ENST00000409855.1	37	c.2063A>G	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.540230	0.85917	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992	D;D	0.97480	-4.4;-4.4	4.79	4.79	0.61399	Ion transport (1);	0.000000	0.64402	D	0.000016	D	0.98317	0.9442	M	0.85630	2.765	0.51767	D	0.999936	D	0.89917	1.0	D	0.87578	0.998	D	0.99104	1.0844	10	0.87932	D	0	.	12.5906	0.56441	0.0:0.0:0.0:1.0	.	688	Q01118	SCN7A_HUMAN	G	688	ENSP00000386796:E688G;ENSP00000413699:E688G	ENSP00000259060:E688G	E	-	2	0	SCN7A	167006246	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.868000	0.87116	2.141000	0.66446	0.482000	0.46254	GAG		0.448	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			20	28	0	0	0	1	0	20	28				
OR52I2	143502	broad.mit.edu	37	11	4608601	4608601	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:4608601A>T	ENST00000312614.4	+	1	581	c.559A>T	c.(559-561)Act>Tct	p.T187S		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	187						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATAGCCATAACTCCACTGAG	0.488																																						ENST00000312614.4																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19						c.(559-561)Act>Tct		olfactory receptor, family 52, subfamily I, member 2							110.0	111.0	111.0					11																	4608601		2201	4298	6499	SO:0001583	missense	143502				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4608601A>T	BK004264	CCDS31355.1	11p15.4	2012-08-09			ENSG00000226288	ENSG00000226288		"""GPCR / Class A : Olfactory receptors"""	15221	protein-coding gene	gene with protein product							Standard	NM_001005170		Approved		uc010qyh.2	Q8NH67	OTTHUMG00000165721	ENST00000312614.4:c.559A>T	11.37:g.4608601A>T	ENSP00000308764:p.Thr187Ser						p.T187S	NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	581	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	187					B2RNJ5|B9EKV8|Q6IFJ8	Missense_Mutation	SNP	ENST00000312614.4	37	c.559A>T	CCDS31355.1	.	.	.	.	.	.	.	.	.	.	A	4.455	0.084241	0.08583	.	.	ENSG00000226288	ENST00000312614	T	0.71817	-0.6	4.18	3.01	0.34805	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46145	D	0.000313	T	0.51143	0.1657	N	0.25789	0.76	0.09310	N	1	B	0.33807	0.426	B	0.32724	0.151	T	0.33752	-0.9856	10	0.13470	T	0.59	-11.9031	8.8722	0.35323	0.8321:0.0:0.0:0.1679	.	187	Q8NH67	O52I2_HUMAN	S	187	ENSP00000308764:T187S	ENSP00000308764:T187S	T	+	1	0	OR52I2	4565177	0.000000	0.05858	0.934000	0.37439	0.132000	0.20833	-1.296000	0.02762	0.629000	0.30376	0.524000	0.50904	ACT		0.488	OR52I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385946.1	NM_001005170		31	41	0	0	0	1	0	31	41				
GOLGB1	2804	broad.mit.edu	37	3	121400619	121400619	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr3:121400619G>C	ENST00000340645.5	-	15	8898	c.8773C>G	c.(8773-8775)Caa>Gaa	p.Q2925E	GOLGB1_ENST00000393667.3_Missense_Mutation_p.Q2930E	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2925					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GTCTTATCTTGATACTCCTGA	0.408																																						ENST00000393667.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(8788-8790)Caa>Gaa		golgin B1							188.0	170.0	176.0					3																	121400619		2203	4300	6503	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121400619G>C	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.8773C>G	3.37:g.121400619G>C	ENSP00000341848:p.Gln2925Glu					GOLGB1_ENST00000340645.5_Missense_Mutation_p.Q2925E	p.Q2930E	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	15	8898	-			2925					B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.8788C>G	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.685124	0.47991	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.13901	2.55;2.56	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000007	T	0.18841	0.0452	N	0.17082	0.46	0.37427	D	0.913876	D;D;B	0.64830	0.99;0.994;0.054	D;D;B	0.72982	0.979;0.913;0.063	T	0.01858	-1.1259	10	0.02654	T	1	.	16.3795	0.83443	0.0:0.0:1.0:0.0	.	2930;2930;2925	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	E	2925;2930	ENSP00000341848:Q2925E;ENSP00000377275:Q2930E	ENSP00000341848:Q2925E	Q	-	1	0	GOLGB1	122883309	0.999000	0.42202	1.000000	0.80357	0.626000	0.37791	2.782000	0.47758	2.941000	0.99782	0.655000	0.94253	CAA		0.408	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		14	33	0	0	0	1	0	14	33				
ITPR2	3709	broad.mit.edu	37	12	26492364	26492364	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:26492364G>A	ENST00000381340.3	-	57	8488	c.8072C>T	c.(8071-8073)aCa>aTa	p.T2691I	RP11-513G19.1_ENST00000535324.1_RNA|RP11-612B6.2_ENST00000537724.1_lincRNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2691					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	CACATGGGGTGTGTTTGATCC	0.483																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(8071-8073)aCa>aTa		inositol 1,4,5-trisphosphate receptor, type 2							147.0	154.0	152.0					12																	26492364		1976	4164	6140	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26492364G>A	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.8072C>T	12.37:g.26492364G>A	ENSP00000370744:p.Thr2691Ile					RP11-513G19.1_ENST00000535324.1_RNA	p.T2691I	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			57	8488	-	Colorectal(261;0.0847)		2691					O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.8072C>T	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.069545	0.55539	.	.	ENSG00000123104	ENST00000381340	D	0.91843	-2.92	4.88	4.88	0.63580	.	0.342558	0.27846	N	0.017602	D	0.83575	0.5284	N	0.03608	-0.345	0.80722	D	1	B	0.19583	0.037	B	0.23018	0.043	T	0.79298	-0.1861	10	0.45353	T	0.12	.	18.4448	0.90680	0.0:0.0:1.0:0.0	.	2691	Q14571	ITPR2_HUMAN	I	2691	ENSP00000370744:T2691I	ENSP00000370744:T2691I	T	-	2	0	ITPR2	26383631	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.021000	0.76425	2.423000	0.82170	0.650000	0.86243	ACA		0.483	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		12	17	0	0	0	1	0	12	17				
GH1	2688	broad.mit.edu	37	17	61995813	61995813	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:61995813G>C	ENST00000323322.5	-	2	106	c.64C>G	c.(64-66)Caa>Gaa	p.Q22E	GH1_ENST00000458650.2_Missense_Mutation_p.Q22E|CSHL1_ENST00000392824.4_Intron|GH1_ENST00000351388.4_Missense_Mutation_p.Q22E|GH1_ENST00000342364.4_Missense_Mutation_p.Q22E	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	22					bone maturation (GO:0070977)|glucose transport (GO:0015758)|growth hormone receptor signaling pathway (GO:0060396)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|growth hormone receptor binding (GO:0005131)|metal ion binding (GO:0046872)|prolactin receptor binding (GO:0005148)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						CTGCCCTCTTGAAGCCAGGGC	0.612																																						ENST00000323322.5																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						c.(64-66)Caa>Gaa		growth hormone 1							118.0	123.0	121.0					17																	61995813		2203	4300	6503	SO:0001583	missense	2688				glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding	g.chr17:61995813G>C	M13438	CCDS11653.1, CCDS11654.1, CCDS45760.1	17q22-q24	2014-01-30				ENSG00000259384		"""Endogenous ligands"""	4261	protein-coding gene	gene with protein product	"""pituitary growth hormone"", ""somatotropin"""	139250				6306568	Standard	XM_005257218		Approved	GH-N, GHN, GH, hGH-N	uc002jdj.3	P01241		ENST00000323322.5:c.64C>G	17.37:g.61995813G>C	ENSP00000312673:p.Gln22Glu					GH1_ENST00000342364.4_Missense_Mutation_p.Q22E|GH1_ENST00000458650.2_Missense_Mutation_p.Q22E|GH1_ENST00000351388.4_Missense_Mutation_p.Q22E|CSHL1_ENST00000392824.4_Intron	p.Q22E	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN			2	106	-			22					A6NEF6|Q14405|Q16631|Q5EB53|Q9HBZ1|Q9UMJ7|Q9UNL5	Missense_Mutation	SNP	ENST00000323322.5	37	c.64C>G	CCDS11653.1	.	.	.	.	.	.	.	.	.	.	g	0.816	-0.750271	0.03041	.	.	ENSG00000204414	ENST00000323322;ENST00000458650;ENST00000351388;ENST00000342364	D;D;D;D	0.90324	-2.21;-2.16;-2.29;-2.65	2.86	1.82	0.25136	.	0.697293	0.14086	N	0.342341	D	0.94604	0.8261	M	0.89353	3.025	0.09310	N	0.999999	P;B;B;B;B	0.50156	0.932;0.003;0.023;0.136;0.136	D;B;B;B;B	0.64506	0.926;0.003;0.052;0.297;0.297	D	0.86510	0.1809	10	0.72032	D	0.01	.	6.8848	0.24193	0.0:0.0:0.7243:0.2757	.	22;22;22;22;22	C9JYZ1;B1A4G9;A6NEF6;P01241;B1A4G7	.;.;.;SOMA_HUMAN;.	E	22	ENSP00000312673:Q22E;ENSP00000408486:Q22E;ENSP00000343791:Q22E;ENSP00000339278:Q22E	ENSP00000312673:Q22E	Q	-	1	0	GH1	59349545	0.222000	0.23652	0.631000	0.29282	0.100000	0.18952	1.423000	0.34837	0.481000	0.27557	0.298000	0.19748	CAA		0.612	GH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417708.1	NM_000515		6	188	0	0	0	1	0	6	188				
KIR2DL3	3804	broad.mit.edu	37	19	55258838	55258838	+	Splice_Site	SNP	G	G	T	rs142072295		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:55258838G>T	ENST00000342376.3	+	5	746		c.e5+1		KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL3_ENST00000434419.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000402254.2_Intron	NM_015868.2	NP_056952.2	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3						immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		TCCGAAACCGGTGAGTACAGA	0.507																																						ENST00000342376.3																			0				breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21						c.e5+1		killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3							94.0	89.0	91.0					19																	55258838		1416	2530	3946	SO:0001630	splice_region_variant	3804							g.chr19:55258838G>T	L41268	CCDS33107.1	19q13.4	2013-01-29				ENSG00000243772		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6331	protein-coding gene	gene with protein product		604938				7749980, 8662091	Standard	XM_006725426		Approved	cl-6, nkat2, nkat2a, nkat2b, p58, CD158B2		P43628	OTTHUMG00000065887	ENST00000342376.3:c.715+1G>T	19.37:g.55258838G>T						KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000434419.2_Intron		NM_015868.2	NP_056952.2				GBM - Glioblastoma multiforme(193;0.0192)	5	746	+								O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70	Splice_Site	SNP	ENST00000342376.3	37		CCDS33107.1	.	.	.	.	.	.	.	.	.	.	.	3.166	-0.171104	0.06421	.	.	ENSG00000243772	ENST00000342376	.	.	.	0.736	0.736	0.18307	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.8217	0.13394	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIR2DL3	59950650	0.010000	0.17322	0.024000	0.17045	0.004000	0.04260	0.206000	0.17375	0.675000	0.31264	0.184000	0.17185	.		0.507	KIR2DL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000141150.1		Intron	23	56	1	0	9.9998e-32	1	1.45876e-31	23	56				
MUC5B	727897	broad.mit.edu	37	11	1272821	1272821	+	Missense_Mutation	SNP	G	G	C	rs56353324		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:1272821G>C	ENST00000529681.1	+	31	14769	c.14711G>C	c.(14710-14712)cGc>cCc	p.R4904P	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.R4907P	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4904	Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGGACCACCCGCACCCCTGCA	0.652																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(14719-14721)cGc>cCc		mucin 5B, oligomeric mucus/gel-forming							45.0	57.0	53.0					11																	1272821		2167	4240	6407	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1272821G>C	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.14711G>C	11.37:g.1272821G>C	ENSP00000436812:p.Arg4904Pro					MUC5B_ENST00000529681.1_Missense_Mutation_p.R4904P	p.R4907P			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	14778	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	4904			Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.14720G>C	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	g	1.331	-0.596877	0.03771	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.16743	2.32;2.51	2.78	-5.57	0.02521	.	.	.	.	.	T	0.09379	0.0231	L	0.40543	1.245	0.09310	N	1	P;P	0.47409	0.748;0.895	B;B	0.31101	0.075;0.124	T	0.04796	-1.0926	9	0.87932	D	0	.	8.7803	0.34787	0.39:0.1137:0.4963:0.0	.	5226;4907	A7Y9J9;E9PBJ0	.;.	P	4904;4907;4848;4603	ENSP00000436812:R4904P;ENSP00000415793:R4907P	ENSP00000343037:R4848P	R	+	2	0	MUC5B	1229397	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.518000	0.00222	-2.519000	0.00498	-2.396000	0.00226	CGC		0.652	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		12	20	0	0	0	1	0	12	20				
CEMP1	752014	broad.mit.edu	37	16	2580999	2580999	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr16:2580999G>C	ENST00000567119.1	-	1	410	c.76C>G	c.(76-78)Ctc>Gtc	p.L26V	CEMP1_ENST00000382350.1_Missense_Mutation_p.L26V|MIR3178_ENST00000581887.1_RNA|AMDHD2_ENST00000565570.1_3'UTR|CEMP1_ENST00000565480.1_Missense_Mutation_p.L26V|AMDHD2_ENST00000302956.4_3'UTR	NM_001048212.3	NP_001041677.1	Q6PRD7	CEMP1_HUMAN	cementum protein 1	26						cytoplasm (GO:0005737)				lung(1)|skin(1)	2						AGGCAGGTGAGGTTCTCAGCC	0.627																																						ENST00000382350.1																			0				lung(1)|skin(1)	2						c.(76-78)Ctc>Gtc		cementum protein 1							30.0	36.0	34.0					16																	2580999		2068	4200	6268	SO:0001583	missense	752014					cytoplasm		g.chr16:2580999G>C	AY584596	CCDS42108.1	16p13.3	2006-09-22							32553	protein-coding gene	gene with protein product	"""cementum protein-23"""	611113				16263347	Standard	NM_001048212		Approved	CP-23	uc002cqr.3	Q6PRD7		ENST00000567119.1:c.76C>G	16.37:g.2580999G>C	ENSP00000457380:p.Leu26Val					AMDHD2_ENST00000302956.4_3'UTR|CEMP1_ENST00000567119.1_Missense_Mutation_p.L26V|AMDHD2_ENST00000565570.1_3'UTR|CEMP1_ENST00000565480.1_Missense_Mutation_p.L26V	p.L26V			Q6PRD7	CEMP1_HUMAN			1	421	-			26					B2RUY1	Missense_Mutation	SNP	ENST00000567119.1	37	c.76C>G	CCDS42108.1	.	.	.	.	.	.	.	.	.	.	G	2.062	-0.415195	0.04766	.	.	ENSG00000205923	ENST00000382350	T	0.56103	0.48	1.27	0.217	0.15264	.	.	.	.	.	T	0.24774	0.0601	N	0.08118	0	0.09310	N	1	P	0.35481	0.504	B	0.26614	0.071	T	0.13255	-1.0516	9	0.87932	D	0	.	4.5616	0.12163	0.0:0.0:0.6262:0.3738	.	26	Q6PRD7	CEMP1_HUMAN	V	26	ENSP00000371787:L26V	ENSP00000371787:L26V	L	-	1	0	CEMP1	2521000	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.453000	0.21811	0.086000	0.17137	0.561000	0.74099	CTC		0.627	CEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435686.1	NM_001048212		6	21	0	0	0	1	0	6	21				
UNC13C	440279	broad.mit.edu	37	15	54305531	54305531	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr15:54305531C>T	ENST00000260323.11	+	1	431	c.431C>T	c.(430-432)tCa>tTa	p.S144L	UNC13C_ENST00000537900.1_Missense_Mutation_p.S144L|UNC13C_ENST00000545554.1_Missense_Mutation_p.S144L	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	144					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CAGGCACAATCAACACACACA	0.458																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(430-432)tCa>tTa		unc-13 homolog C (C. elegans)							78.0	78.0	78.0					15																	54305531		2030	4190	6220	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54305531C>T	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.431C>T	15.37:g.54305531C>T	ENSP00000260323:p.Ser144Leu					UNC13C_ENST00000537900.1_Missense_Mutation_p.S144L|UNC13C_ENST00000260323.11_Missense_Mutation_p.S144L	p.S144L			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	431	+			144					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.431C>T	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	C	4.115	0.019435	0.08006	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.78707	-1.2;-1.2;-1.2	5.16	4.24	0.50183	.	.	.	.	.	T	0.58524	0.2128	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41124	-0.9526	9	0.02654	T	1	.	9.3691	0.38244	0.0:0.8186:0.0:0.1814	.	144	Q8NB66	UN13C_HUMAN	L	144	ENSP00000260323:S144L;ENSP00000438156:S144L;ENSP00000442569:S144L	ENSP00000260323:S144L	S	+	2	0	UNC13C	52092823	0.967000	0.33354	0.003000	0.11579	0.008000	0.06430	3.305000	0.51873	1.173000	0.42796	0.655000	0.94253	TCA		0.458	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		4	26	0	0	0	1	0	4	26				
FANCB	2187	broad.mit.edu	37	X	14883255	14883255	+	Silent	SNP	T	T	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chrX:14883255T>A	ENST00000324138.3	-	2	531	c.378A>T	c.(376-378)ctA>ctT	p.L126L	FANCB_ENST00000398334.1_Silent_p.L126L	NM_152633.2	NP_689846.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	126					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					TCTCATAGCCTAGTTTAAAAC	0.313								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000398334.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						c.(376-378)ctA>ctT	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group B							42.0	40.0	41.0					X																	14883255		2203	4299	6502	SO:0001819	synonymous_variant	2187	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm		g.chrX:14883255T>A	AK091383	CCDS14161.1	Xp22.2	2014-09-17			ENSG00000181544	ENSG00000181544		"""Fanconi anemia, complementation groups"""	3583	protein-coding gene	gene with protein product		300515				9382107, 15502827	Standard	NM_152633		Approved	FAB, FLJ34064, FAAP95	uc004cwh.1	Q8NB91	OTTHUMG00000021168	ENST00000324138.3:c.378A>T	X.37:g.14883255T>A						FANCB_ENST00000324138.3_Silent_p.L126L	p.L126L	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN			3	645	-	Hepatocellular(33;0.183)		126					B2RMZ4|Q7Z2U2|Q86XG1	Silent	SNP	ENST00000324138.3	37	c.378A>T	CCDS14161.1																																																																																				0.313	FANCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055835.1	NM_152633		9	6	0	0	0	1	0	9	6				
LARP1B	55132	broad.mit.edu	37	4	129003419	129003419	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:129003419C>T	ENST00000326639.6	+	5	528	c.317C>T	c.(316-318)gCa>gTa	p.A106V	LARP1B_ENST00000441387.1_Missense_Mutation_p.A106V|LARP1B_ENST00000512292.1_Missense_Mutation_p.A106V|LARP1B_ENST00000264584.5_Intron|LARP1B_ENST00000432347.2_Missense_Mutation_p.A106V|LARP1B_ENST00000427266.1_Missense_Mutation_p.A106V|LARP1B_ENST00000394288.3_Missense_Mutation_p.A106V|LARP1B_ENST00000354456.3_5'UTR	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	106						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						CAACCTGAAGCAAATAAACCA	0.388																																						ENST00000326639.6																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						c.(316-318)gCa>gTa		La ribonucleoprotein domain family, member 1B							96.0	93.0	94.0					4																	129003419		2203	4300	6503	SO:0001583	missense	55132						RNA binding	g.chr4:129003419C>T		CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"""La ribonucleoprotein domain containing"""	24704	protein-coding gene	gene with protein product			"""La ribonucleoprotein domain family, member 2"""	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.317C>T	4.37:g.129003419C>T	ENSP00000321997:p.Ala106Val					LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000512292.1_Missense_Mutation_p.A106V|LARP1B_ENST00000432347.2_Missense_Mutation_p.A106V|LARP1B_ENST00000264584.5_Intron|LARP1B_ENST00000441387.1_Missense_Mutation_p.A106V|LARP1B_ENST00000394288.3_Missense_Mutation_p.A106V|LARP1B_ENST00000427266.1_Missense_Mutation_p.A106V	p.A106V	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN			5	528	+			106					Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Missense_Mutation	SNP	ENST00000326639.6	37	c.317C>T	CCDS3738.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.362253	0.24684	.	.	ENSG00000138709	ENST00000326639;ENST00000512292;ENST00000394288;ENST00000432347;ENST00000441387;ENST00000427266	T;T;T;T;T;T	0.46451	1.9;1.47;0.89;0.87;1.89;1.47	4.49	2.74	0.32292	.	0.680540	0.13382	N	0.392025	T	0.26048	0.0635	N	0.25647	0.755	0.80722	D	1	B;B;B;B	0.06786	0.0;0.001;0.0;0.001	B;B;B;B	0.08055	0.001;0.003;0.001;0.003	T	0.05241	-1.0897	10	0.21014	T	0.42	.	6.2927	0.21069	0.0:0.6859:0.1526:0.1615	.	106;106;106;106	Q659C4;G3XAJ5;Q659C4-3;G3V0E9	LAR1B_HUMAN;.;.;.	V	106	ENSP00000321997:A106V;ENSP00000422850:A106V;ENSP00000377829:A106V;ENSP00000390395:A106V;ENSP00000396521:A106V;ENSP00000403586:A106V	ENSP00000321997:A106V	A	+	2	0	LARP1B	129222869	0.998000	0.40836	0.997000	0.53966	0.990000	0.78478	2.703000	0.47110	0.525000	0.28522	0.455000	0.32223	GCA		0.388	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257173.2	NM_018078		18	32	0	0	0	1	0	18	32				
DNM3	26052	broad.mit.edu	37	1	172376917	172376917	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:172376917G>A	ENST00000355305.5	+	21	2703	c.2546G>A	c.(2545-2547)aGa>aAa	p.R849K	PIGC_ENST00000484368.1_Intron|DNM3_ENST00000367731.1_Missense_Mutation_p.R839K|DNM3_ENST00000358155.4_Missense_Mutation_p.R843K			Q9UQ16	DYN3_HUMAN	dynamin 3	849					endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TCTAGCCGGAGACCACCCCCA	0.433																																						ENST00000358155.4																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(2527-2529)aGa>aAa		dynamin 3							190.0	188.0	189.0					1																	172376917		1867	4106	5973	SO:0001583	missense	26052				endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding	g.chr1:172376917G>A	AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"""Pleckstrin homology (PH) domain containing"""	29125	protein-coding gene	gene with protein product	"""Dyna III"""	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.2546G>A	1.37:g.172376917G>A	ENSP00000347457:p.Arg849Lys					DNM3_ENST00000367731.1_Missense_Mutation_p.R839K|PIGC_ENST00000484368.1_Intron|DNM3_ENST00000355305.5_Missense_Mutation_p.R849K	p.R843K	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN			21	2704	+			849					A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Missense_Mutation	SNP	ENST00000355305.5	37	c.2528G>A		.	.	.	.	.	.	.	.	.	.	G	17.63	3.436717	0.62955	.	.	ENSG00000197959	ENST00000359070;ENST00000358155;ENST00000355305;ENST00000367731	T;T;T	0.44083	0.93;0.93;0.93	5.83	5.83	0.93111	.	0.408420	0.26816	N	0.022351	T	0.40932	0.1137	L	0.39147	1.195	0.80722	D	1	P;P	0.47910	0.902;0.902	P;P	0.60173	0.87;0.87	T	0.04976	-1.0914	10	0.16420	T	0.52	.	16.8531	0.85999	0.0:0.0:1.0:0.0	.	839;843	Q9UQ16-2;Q9UQ16-3	.;.	K	853;843;849;839	ENSP00000350876:R843K;ENSP00000347457:R849K;ENSP00000356705:R839K	ENSP00000347457:R849K	R	+	2	0	DNM3	170643540	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.153000	0.71819	2.770000	0.95276	0.655000	0.94253	AGA		0.433	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000084531.1	NM_015569		22	72	0	0	0	1	0	22	72				
OR2T1	26696	broad.mit.edu	37	1	248570267	248570267	+	Silent	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:248570267C>T	ENST00000366474.1	+	1	972	c.972C>T	c.(970-972)ctC>ctT	p.L324L		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	324						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	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)			ACAAAGTCCTCTCTGTGTTTT	0.527																																						ENST00000366474.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39						c.(970-972)ctC>ctT		olfactory receptor, family 2, subfamily T, member 1							198.0	186.0	190.0					1																	248570267		2203	4300	6503	SO:0001819	synonymous_variant	26696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248570267C>T	U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"""GPCR / Class A : Olfactory receptors"""	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.972C>T	1.37:g.248570267C>T							p.L324L	NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	972	+	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)		324					Q6IEZ9	Silent	SNP	ENST00000366474.1	37	c.972C>T	CCDS31115.1																																																																																				0.527	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097346.2			35	87	0	0	0	1	0	35	87				
TTN	7273	broad.mit.edu	37	2	179449435	179449435	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:179449435G>T	ENST00000591111.1	-	260	60234	c.60010C>A	c.(60010-60012)Cct>Act	p.P20004T	TTN_ENST00000342992.6_Missense_Mutation_p.P19077T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P12705T|TTN_ENST00000460472.2_Missense_Mutation_p.P12580T|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P12772T|TTN_ENST00000589042.1_Missense_Mutation_p.P21645T			Q8WZ42	TITIN_HUMAN	titin	20004	Fibronectin type-III 44. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			GATGTGAGAGGCTCTGAAATG	0.433																																						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.(64933-64935)Cct>Act		titin							183.0	180.0	181.0					2																	179449435		1907	4116	6023	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179449435G>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.60010C>A	2.37:g.179449435G>T	ENSP00000465570:p.Pro20004Thr					TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P12705T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P12772T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P20004T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P12580T|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P19077T|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA	p.P21645T	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)		310	65157	-			20004			Fibronectin type-III 57.		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.64933C>A		.	.	.	.	.	.	.	.	.	.	G	18.26	3.584713	0.65992	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	6.17	6.17	0.99709	Fibronectin, type III (3);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80358	0.4608	H	0.97103	3.94	0.80722	D	1	D;D;D;D	0.63880	0.993;0.986;0.986;0.993	P;P;P;P	0.61070	0.883;0.655;0.655;0.883	D	0.86032	0.1514	9	0.87932	D	0	.	16.2608	0.82541	0.0:0.1316:0.8683:0.0	.	12580;12705;12772;20004	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	19077;12580;12772;12705;12578	ENSP00000343764:P19077T;ENSP00000434586:P12580T;ENSP00000340554:P12772T;ENSP00000352154:P12705T	ENSP00000340554:P12772T	P	-	1	0	TTN	179157681	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.825000	0.86693	2.941000	0.99782	0.655000	0.94253	CCT		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		72	141	1	0	9.35569e-46	1	1.37996e-45	72	141				
AARSD1	80755	broad.mit.edu	37	17	41106957	41106957	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:41106957C>T	ENST00000427569.2	-	9	924	c.889G>A	c.(889-891)Gct>Act	p.A297T	PTGES3L-AARSD1_ENST00000421990.2_Missense_Mutation_p.A471T|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.A410T|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.A471T|AARSD1_ENST00000416949.1_5'Flank|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.A380T	NM_001261434.1	NP_001248363.1	Q9BTE6	AASD1_HUMAN	alanyl-tRNA synthetase domain containing 1	297					alanyl-tRNA aminoacylation (GO:0006419)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	alanine-tRNA ligase activity (GO:0004813)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|Ser-tRNA(Ala) hydrolase activity (GO:0002196)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|skin(1)	17		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		ATGTGCACAGCCAGGTCTCTG	0.468																																						ENST00000421990.2																			0											c.(1411-1413)Gct>Act									145.0	136.0	139.0					17																	41106957		2203	4300	6503	SO:0001583	missense	100885850							g.chr17:41106957C>T	BC004172	CCDS11447.1, CCDS45691.1, CCDS58552.1	17q21.31	2012-10-05			ENSG00000266967	ENSG00000266967			28417	protein-coding gene	gene with protein product		613212					Standard	NM_001261434		Approved	MGC2744		Q9BTE6	OTTHUMG00000153515	ENST00000427569.2:c.889G>A	17.37:g.41106957C>T	ENSP00000400870:p.Ala297Thr					PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.A380T|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.A471T|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.A410T|AARSD1_ENST00000427569.2_Missense_Mutation_p.A297T	p.A471T	NM_001136042.2	NP_001129514.2					14	1756	-								B4DI73	Missense_Mutation	SNP	ENST00000427569.2	37	c.1411G>A	CCDS58552.1	.	.	.	.	.	.	.	.	.	.	c	36	5.626209	0.96671	.	.	ENSG00000108825	ENST00000360221;ENST00000409399;ENST00000421990;ENST00000427569;ENST00000409103	T;T	0.57273	0.41;0.41	5.06	5.06	0.68205	.	0.125473	0.52532	D	0.000061	T	0.77935	0.4205	M	0.89214	3.015	0.42996	D	0.994509	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.987;0.992;0.989;0.992	T	0.82074	-0.0637	9	0.87932	D	0	-17.0535	18.9863	0.92771	0.0:1.0:0.0:0.0	.	471;380;428;297	B4DI73;C9J5N1;B3KSP9;Q9BTE6	.;.;.;AASD1_HUMAN	T	410;471;471;297;380	ENSP00000386621:A471T;ENSP00000409924:A471T	ENSP00000353355:A410T	A	-	1	0	AARSD1	38360483	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.559000	0.82265	2.782000	0.95742	0.556000	0.70494	GCT		0.468	AARSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467729.1	NM_001261434		19	29	0	0	0	1	0	19	29				
OBSCN	84033	broad.mit.edu	37	1	228566495	228566495	+	Silent	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:228566495G>A	ENST00000422127.1	+	105	23950	c.23906G>A	c.(23905-23907)tGa>tAa	p.*7969*	OBSCN_ENST00000570156.2_Silent_p.*8924*|OBSCN_ENST00000366707.4_Silent_p.*5603*	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	0					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGGTGCGCTGAGGGTCGCCC	0.667																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(26770-26772)tGa>tAa		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							12.0	14.0	13.0					1																	228566495		1924	4067	5991	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228566495G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.23906G>A	1.37:g.228566495G>A						OBSCN_ENST00000422127.1_Silent_p.*7969*|OBSCN_ENST00000366707.4_Silent_p.*5603*	p.*8924*	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			116	26845	+		Prostate(94;0.0405)	0					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.26771G>A	CCDS58065.1																																																																																				0.667	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		12	8	0	0	0	1	0	12	8				
KIF19	124602	broad.mit.edu	37	17	72345427	72345427	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:72345427G>T	ENST00000389916.4	+	10	1290	c.1152G>T	c.(1150-1152)gaG>gaT	p.E384D		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	384					ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						AGATTGATGAGCAGACTGGGC	0.652																																						ENST00000389916.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(1150-1152)gaG>gaT		kinesin family member 19							44.0	41.0	42.0					17																	72345427		2202	4300	6502	SO:0001583	missense	124602				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr17:72345427G>T	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"""Kinesins"""	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.1152G>T	17.37:g.72345427G>T	ENSP00000374566:p.Glu384Asp						p.E384D	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN			10	1290	+			384					A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	ENST00000389916.4	37	c.1152G>T	CCDS32718.2	.	.	.	.	.	.	.	.	.	.	G	2.760	-0.257971	0.05791	.	.	ENSG00000196169	ENST00000551294;ENST00000389916	T;T	0.75050	-0.9;-0.58	5.73	2.51	0.30379	.	.	.	.	.	T	0.53753	0.1816	N	0.20986	0.625	0.18873	N	0.999989	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.10450	0.001;0.002;0.005;0.002	T	0.35549	-0.9784	9	0.08381	T	0.77	.	5.997	0.19499	0.233:0.1407:0.6263:0.0	.	384;342;342;384	Q2TAC6;F8VW50;Q2TAC6-3;Q2TAC6-2	KIF19_HUMAN;.;.;.	D	342;384	ENSP00000449134:E342D;ENSP00000374566:E384D	ENSP00000374566:E384D	E	+	3	2	KIF19	69857022	0.025000	0.19082	0.812000	0.32479	0.248000	0.25809	0.010000	0.13242	0.795000	0.33922	0.556000	0.70494	GAG		0.652	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		18	21	1	0	1.01871e-10	1	1.27881e-10	18	21				
ATP10A	57194	broad.mit.edu	37	15	25959330	25959330	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr15:25959330C>A	ENST00000356865.6	-	10	1946	c.1835G>T	c.(1834-1836)aGg>aTg	p.R612M		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	612					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)		GGGTGTGAACCTCCGCAGGAA	0.597																																						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.(1834-1836)aGg>aTg		ATPase, class V, type 10A							46.0	51.0	50.0					15																	25959330		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.chr15:25959330C>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.1835G>T	15.37:g.25959330C>A	ENSP00000349325:p.Arg612Met						p.R612M	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)	10	1946	-		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)	612					Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.1835G>T	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	C	10.20	1.284864	0.23392	.	.	ENSG00000206190	ENST00000356865	T	0.11169	2.8	4.28	1.31	0.21738	HAD-like domain (1);	0.385659	0.30473	N	0.009553	T	0.10294	0.0252	L	0.46157	1.445	0.41180	D	0.986225	B	0.15930	0.015	B	0.23150	0.044	T	0.11941	-1.0567	10	0.44086	T	0.13	-15.5624	9.5392	0.39242	0.0:0.764:0.0:0.236	.	612	O60312	AT10A_HUMAN	M	612	ENSP00000349325:R612M	ENSP00000349325:R612M	R	-	2	0	ATP10A	23510423	1.000000	0.71417	0.057000	0.19452	0.036000	0.12997	4.209000	0.58493	0.105000	0.17753	-0.251000	0.11542	AGG		0.597	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		4	29	1	0	0.000602214	1	0.00064732	4	29				
SPOPL	339745	broad.mit.edu	37	2	139316872	139316872	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:139316872G>T	ENST00000280098.4	+	7	1058	c.679G>T	c.(679-681)Gcc>Tcc	p.A227S		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	227	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)		p.A227T(1)		breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		AGTTTTTAACGCCATGTTTGA	0.289																																						ENST00000280098.4																			1	Substitution - Missense(1)	p.A227T(1)	endometrium(1)	breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21						c.(679-681)Gcc>Tcc		speckle-type POZ protein-like							54.0	56.0	55.0					2																	139316872		2203	4300	6503	SO:0001583	missense	339745					nucleus		g.chr2:139316872G>T		CCDS33298.1	2q22.1	2013-01-09			ENSG00000144228	ENSG00000144228		"""BTB/POZ domain containing"""	27934	protein-coding gene	gene with protein product	"""HIB homolog 2"", ""roadkill homolog 2"""						Standard	NM_001001664		Approved	BTBD33	uc002tvh.3	Q6IQ16	OTTHUMG00000153635	ENST00000280098.4:c.679G>T	2.37:g.139316872G>T	ENSP00000280098:p.Ala227Ser						p.A227S	NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0296)	7	1058	+			227			BTB.			Missense_Mutation	SNP	ENST00000280098.4	37	c.679G>T	CCDS33298.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.667729	0.88348	.	.	ENSG00000144228	ENST00000280098	T	0.69040	-0.37	4.82	4.82	0.62117	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.79358	0.4432	M	0.69523	2.12	0.80722	D	1	D	0.53885	0.963	P	0.60473	0.875	T	0.79581	-0.1744	9	.	.	.	-3.2317	18.2686	0.90060	0.0:0.0:1.0:0.0	.	227	Q6IQ16	SPOPL_HUMAN	S	227	ENSP00000280098:A227S	.	A	+	1	0	SPOPL	139033342	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.813000	0.99286	2.382000	0.81193	0.591000	0.81541	GCC		0.289	SPOPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331897.1			9	19	1	0	0.0477658	1	0.0491543	9	19				
EHD4	30844	broad.mit.edu	37	15	42193002	42193002	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr15:42193002C>A	ENST00000220325.4	-	6	1550	c.1467G>T	c.(1465-1467)aaG>aaT	p.K489N	RP11-23P13.6_ENST00000564432.2_RNA	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	489	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.|EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				cellular response to growth factor stimulus (GO:0071363)|endocytic recycling (GO:0032456)|pinocytosis (GO:0006907)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein homooligomerization (GO:0051260)|regulation of endocytosis (GO:0030100)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		AGTCGGCCAGCTTCCAGATCT	0.582																																						ENST00000220325.4																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20						c.(1465-1467)aaG>aaT		EH-domain containing 4							82.0	70.0	74.0					15																	42193002		2203	4299	6502	SO:0001583	missense	30844				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr15:42193002C>A	AF181265	CCDS10081.1	15q11.1	2013-01-10			ENSG00000103966	ENSG00000103966		"""EF-hand domain containing"""	3245	protein-coding gene	gene with protein product		605892		PAST4		10673336, 11533061	Standard	NM_139265		Approved		uc001zot.3	Q9H223	OTTHUMG00000130370	ENST00000220325.4:c.1467G>T	15.37:g.42193002C>A	ENSP00000220325:p.Lys489Asn						p.K489N	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)	6	1550	-		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	489			EF-hand.|EH.		Q9HAR1|Q9NZN2	Missense_Mutation	SNP	ENST00000220325.4	37	c.1467G>T	CCDS10081.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.661234	0.67700	.	.	ENSG00000103966	ENST00000220325	T	0.28895	1.59	4.83	3.89	0.44902	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.048589	0.85682	D	0.000000	T	0.25938	0.0632	L	0.43923	1.385	0.80722	D	1	B	0.22080	0.064	B	0.22386	0.039	T	0.05550	-1.0878	10	0.35671	T	0.21	-29.3383	11.7416	0.51796	0.0:0.859:0.0:0.141	.	489	Q9H223	EHD4_HUMAN	N	489	ENSP00000220325:K489N	ENSP00000220325:K489N	K	-	3	2	EHD4	39980294	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.039000	0.41193	2.394000	0.81467	0.543000	0.68304	AAG		0.582	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252737.2	NM_139265		19	13	1	0	7.45023e-12	1	9.50978e-12	19	13				
NEXN	91624	broad.mit.edu	37	1	78408200	78408200	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:78408200G>C	ENST00000334785.7	+	13	1898	c.1714G>C	c.(1714-1716)Gaa>Caa	p.E572Q	FUBP1_ENST00000489495.1_5'Flank|NEXN_ENST00000330010.8_Missense_Mutation_p.E508Q|NEXN_ENST00000480732.2_3'UTR|NEXN_ENST00000457030.1_Missense_Mutation_p.E558Q	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		CTCCACTGCTGAAGATGAAGA	0.403																																						ENST00000330010.8																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(1522-1524)Gaa>Caa		nexilin (F actin binding protein)							97.0	95.0	96.0					1																	78408200		1915	4120	6035	SO:0001583	missense	91624				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle	g.chr1:78408200G>C	AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"""Immunoglobulin superfamily / I-set domain containing"""	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.1714G>C	1.37:g.78408200G>C	ENSP00000333938:p.Glu572Gln					NEXN_ENST00000457030.1_Missense_Mutation_p.E558Q|NEXN_ENST00000480732.1_3'UTR|NEXN_ENST00000334785.7_Missense_Mutation_p.E572Q	p.E508Q	NM_001172309.1	NP_001165780.1	Q0ZGT2	NEXN_HUMAN		Colorectal(170;0.114)	12	1819	+			572			Glu-rich.			Missense_Mutation	SNP	ENST00000334785.7	37	c.1522G>C	CCDS41351.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.302617	0.60195	.	.	ENSG00000162614	ENST00000457030;ENST00000330010;ENST00000334785	T;T;T	0.61742	0.16;0.08;0.15	5.84	5.84	0.93424	.	0.000000	0.53938	D	0.000047	T	0.62720	0.2451	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.996	T	0.56444	-0.7978	10	0.32370	T	0.25	-24.2583	20.1294	0.97995	0.0:0.0:1.0:0.0	.	558;572;508	Q0ZGT2-2;Q0ZGT2;B4DPZ7	.;NEXN_HUMAN;.	Q	558;508;572	ENSP00000388048:E558Q;ENSP00000327363:E508Q;ENSP00000333938:E572Q	ENSP00000327363:E508Q	E	+	1	0	NEXN	78180788	1.000000	0.71417	0.997000	0.53966	0.008000	0.06430	9.869000	0.99810	2.758000	0.94735	0.591000	0.81541	GAA		0.403	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097549.1	NM_144573		14	36	0	0	0	1	0	14	36				
GABRA4	2557	broad.mit.edu	37	4	46973106	46973106	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:46973106C>A	ENST00000264318.3	-	7	1850	c.868G>T	c.(868-870)Gta>Tta	p.V290L		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	290					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|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(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|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)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TTACCAAATACAGTCCTAGCG	0.318																																					Ovarian(6;283 369 8234 12290 33402)	ENST00000264318.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(868-870)Gta>Tta		gamma-aminobutyric acid (GABA) A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						50.0	49.0	49.0					4																	46973106		2203	4299	6502	SO:0001583	missense	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46973106C>A		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.868G>T	4.37:g.46973106C>A	ENSP00000264318:p.Val290Leu						p.V290L	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN			7	1850	-			290					Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	c.868G>T	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	C	35	5.448659	0.96205	.	.	ENSG00000109158	ENST00000264318	D	0.86030	-2.06	5.42	5.42	0.78866	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.89989	0.6875	L	0.43152	1.355	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.90377	0.4385	10	0.72032	D	0.01	.	18.3928	0.90489	0.0:1.0:0.0:0.0	.	290	P48169	GBRA4_HUMAN	L	290	ENSP00000264318:V290L	ENSP00000264318:V290L	V	-	1	0	GABRA4	46667863	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.651000	0.83577	2.821000	0.97095	0.650000	0.86243	GTA		0.318	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			7	23	1	0	0.0293803	1	0.0303521	7	23				
MGAT4C	25834	broad.mit.edu	37	12	86383257	86383257	+	Missense_Mutation	SNP	C	C	A	rs145205649	byFrequency	TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:86383257C>A	ENST00000604798.1	-	6	1272	c.68G>T	c.(67-69)cGt>cTt	p.R23L	MGAT4C_ENST00000393205.2_Missense_Mutation_p.R52L|MGAT4C_ENST00000552808.2_Missense_Mutation_p.R23L|MGAT4C_ENST00000549405.2_Missense_Mutation_p.R23L|MGAT4C_ENST00000552435.2_Missense_Mutation_p.R23L|MGAT4C_ENST00000548651.1_Missense_Mutation_p.R23L|MGAT4C_ENST00000332156.1_Missense_Mutation_p.R23L			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	23					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CACTGTAGAACGTTTTCTCAG	0.323																																						ENST00000604798.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(67-69)cGt>cTt		mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)							84.0	73.0	77.0					12																	86383257		2202	4299	6501	SO:0001583	missense	25834				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr12:86383257C>A		CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	30871	protein-coding gene	gene with protein product		607385	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"""			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.68G>T	12.37:g.86383257C>A	ENSP00000474896:p.Arg23Leu					MGAT4C_ENST00000549405.2_Missense_Mutation_p.R23L|MGAT4C_ENST00000552808.2_Missense_Mutation_p.R23L|MGAT4C_ENST00000552435.2_Missense_Mutation_p.R23L|MGAT4C_ENST00000393205.2_Missense_Mutation_p.R52L|MGAT4C_ENST00000548651.1_Missense_Mutation_p.R23L|MGAT4C_ENST00000332156.1_Missense_Mutation_p.R23L	p.R23L			Q9UBM8	MGT4C_HUMAN			6	1272	-			23					B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	ENST00000604798.1	37	c.68G>T	CCDS9030.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.352265	0.82132	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225;ENST00000552435	T;T;T;T;T;T	0.51817	1.3;1.23;1.3;1.3;1.3;0.69	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.61862	0.2381	L	0.36672	1.1	0.58432	D	0.999991	D;P	0.89917	1.0;0.543	D;B	0.81914	0.995;0.187	T	0.57934	-0.7725	10	0.42905	T	0.14	-5.7685	20.126	0.97982	0.0:1.0:0.0:0.0	.	52;23	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	L	23;52;23;23;23;23;23;23	ENSP00000331664:R23L;ENSP00000376900:R52L;ENSP00000449022:R23L;ENSP00000446647:R23L;ENSP00000447253:R23L;ENSP00000449172:R23L	ENSP00000331664:R23L	R	-	2	0	MGAT4C	84907388	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.179000	0.77665	2.749000	0.94314	0.655000	0.94253	CGT		0.323	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244		11	10	1	0	0.0692343	1	0.0708351	11	10				
SEMA3E	9723	broad.mit.edu	37	7	82996929	82996929	+	Silent	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:82996929G>A	ENST00000307792.3	-	17	2768	c.2301C>T	c.(2299-2301)cgC>cgT	p.R767R	SEMA3E_ENST00000427262.1_Silent_p.R707R	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	767	Arg/Lys-rich (basic).				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)				GCCTGGGCAGGCGGTAATGCT	0.423																																						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.(2299-2301)cgC>cgT		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E							170.0	171.0	170.0					7																	82996929		2203	4300	6503	SO:0001819	synonymous_variant	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:82996929G>A	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.2301C>T	7.37:g.82996929G>A						SEMA3E_ENST00000427262.1_Silent_p.R707R	p.R767R	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN			17	2768	-		Medulloblastoma(109;0.109)	767			Arg/Lys-rich (basic).		B4E1P1|Q75M94|Q75M97	Silent	SNP	ENST00000307792.3	37	c.2301C>T	CCDS34674.1																																																																																				0.423	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		54	92	0	0	0	1	0	54	92				
HRASLS	57110	broad.mit.edu	37	3	192980984	192980984	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr3:192980984T>C	ENST00000602513.1	+	3	774	c.365T>C	c.(364-366)tTt>tCt	p.F122S	HRASLS_ENST00000264735.2_Missense_Mutation_p.F227S			Q9HDD0	HRSL1_HUMAN	HRAS-like suppressor	122					ether lipid metabolic process (GO:0046485)|lipid catabolic process (GO:0016042)|peroxisome organization (GO:0007031)	integral component of membrane (GO:0016021)|nuclear envelope lumen (GO:0005641)|peroxisome (GO:0005777)	phospholipase activity (GO:0004620)|transferase activity (GO:0016740)			breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	10	all_cancers(143;9.1e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000159)		TGTGAACATTTTGTGACATTG	0.398																																						ENST00000264735.2																			0				breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	10						c.(679-681)tTt>tCt		HRAS-like suppressor							84.0	87.0	86.0					3																	192980984		2203	4300	6503	SO:0001583	missense	57110							g.chr3:192980984T>C	AB030816	CCDS3303.1, CCDS3303.2	3q29	2008-05-15			ENSG00000127252	ENSG00000127252			14922	protein-coding gene	gene with protein product		606487					Standard	NM_020386		Approved	H-REV107, HRASLS1	uc003fta.4	Q9HDD0	OTTHUMG00000156104	ENST00000602513.1:c.365T>C	3.37:g.192980984T>C	ENSP00000473258:p.Phe122Ser					HRASLS_ENST00000602513.1_Missense_Mutation_p.F122S	p.F227S	NM_020386.4	NP_065119.2	Q9HDD0	HRSL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000159)	3	774	+	all_cancers(143;9.1e-09)|Ovarian(172;0.0386)		122					D2KX19	Missense_Mutation	SNP	ENST00000602513.1	37	c.680T>C		.	.	.	.	.	.	.	.	.	.	T	19.31	3.803692	0.70682	.	.	ENSG00000127252	ENST00000264735	.	.	.	5.65	5.65	0.86999	NC (1);	0.000000	0.85682	D	0.000000	D	0.86772	0.6013	H	0.95260	3.645	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	D	0.90563	0.4517	9	0.87932	D	0	-3.8199	15.2098	0.73214	0.0:0.0:0.0:1.0	.	122	Q9HDD0	HRSL1_HUMAN	S	122	.	ENSP00000264735:F122S	F	+	2	0	HRASLS	194463678	1.000000	0.71417	1.000000	0.80357	0.490000	0.33462	7.525000	0.81892	2.371000	0.80710	0.533000	0.62120	TTT		0.398	HRASLS-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				20	49	0	0	0	1	0	20	49				
FOXI1	2299	broad.mit.edu	37	5	169535491	169535491	+	Missense_Mutation	SNP	C	C	T	rs367809742		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr5:169535491C>T	ENST00000306268.6	+	2	1074	c.1013C>T	c.(1012-1014)gCg>gTg	p.A338V	FOXI1_ENST00000449804.2_Missense_Mutation_p.A243V			Q12951	FOXI1_HUMAN	forkhead box I1	338					embryo development (GO:0009790)|inner ear morphogenesis (GO:0042472)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.A338V(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGTGACTGGGCGAACCCCATG	0.577									Pendred syndrome																													ENST00000449804.2																			1	Substitution - Missense(1)	p.A338V(1)	central_nervous_system(1)	breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(727-729)gCg>gTg		forkhead box I1		C	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	119.0	89.0	99.0		1013,728	3.5	1.0	5		99	0,8600		0,0,4300	no	missense,missense	FOXI1	NM_012188.4,NM_144769.2	64,64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	338/379,243/284	169535491	1,13005	2203	4300	6503	SO:0001583	missense	2299	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr5:169535491C>T	BC029778	CCDS4372.1, CCDS47337.1	5q34	2008-02-05			ENSG00000168269	ENSG00000168269		"""Forkhead boxes"""	3815	protein-coding gene	gene with protein product		601093		FKHL10		7957066, 8825632	Standard	NM_144769		Approved	FREAC6	uc003mai.4	Q12951	OTTHUMG00000130436	ENST00000306268.6:c.1013C>T	5.37:g.169535491C>T	ENSP00000304286:p.Ala338Val					FOXI1_ENST00000306268.6_Missense_Mutation_p.A338V	p.A243V	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	773	+	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	338		P -> S (in dbSNP:rs35678180).			Q14518|Q66SR7|Q8N6L8	Missense_Mutation	SNP	ENST00000306268.6	37	c.728C>T	CCDS4372.1	.	.	.	.	.	.	.	.	.	.	C	10.19	1.282159	0.23392	2.27E-4	0.0	ENSG00000168269	ENST00000306268;ENST00000449804	D;D	0.94687	-3.33;-3.49	5.28	3.46	0.39613	.	0.253907	0.40385	N	0.001106	D	0.90783	0.7106	L	0.55103	1.725	0.25417	N	0.988304	P;P	0.44946	0.846;0.76	B;B	0.36504	0.226;0.125	T	0.80957	-0.1150	10	0.17369	T	0.5	.	15.3658	0.74519	0.0:0.7137:0.2863:0.0	.	243;338	Q12951-2;Q12951	.;FOXI1_HUMAN	V	338;243	ENSP00000304286:A338V;ENSP00000415483:A243V	ENSP00000304286:A338V	A	+	2	0	FOXI1	169468069	1.000000	0.71417	0.957000	0.39632	0.001000	0.01503	2.361000	0.44160	0.581000	0.29539	-0.176000	0.13171	GCG		0.577	FOXI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252827.2	NM_144769, NM_012188		24	14	0	0	0	1	0	24	14				
GEN1	348654	broad.mit.edu	37	2	17962285	17962285	+	Silent	SNP	A	A	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:17962285A>G	ENST00000381254.2	+	14	2020	c.1806A>G	c.(1804-1806)caA>caG	p.Q602Q	GEN1_ENST00000317402.7_Silent_p.Q602Q|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	602					DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|resolution of recombination intermediates (GO:0071139)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CAGCTATTCAAAGGAATACTT	0.373								Homologous recombination																														ENST00000381254.2																			0				breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(1804-1806)caA>caG	Homologous recombination	GEN1 Holliday junction 5' flap endonuclease							53.0	56.0	55.0					2																	17962285		2176	4296	6472	SO:0001819	synonymous_variant	348654				DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding	g.chr2:17962285A>G	AK098188	CCDS1691.1	2p24.2	2013-06-04	2013-06-04		ENSG00000178295	ENSG00000178295			26881	protein-coding gene	gene with protein product	"""Holliday junction resolvase"""	612449	"""Gen endonuclease homolog 1 (Drosophila)"""			15576351	Standard	NM_182625		Approved	FLJ40869, Gen	uc002rct.2	Q17RS7	OTTHUMG00000121173	ENST00000381254.2:c.1806A>G	2.37:g.17962285A>G						GEN1_ENST00000317402.7_Silent_p.Q602Q|SMC6_ENST00000402989.1_Intron	p.Q602Q	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN			14	2020	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		602					Q17RS9|Q6ZN37	Silent	SNP	ENST00000381254.2	37	c.1806A>G	CCDS1691.1																																																																																				0.373	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241661.2	NM_182625		19	35	0	0	0	1	0	19	35				
RPGRIP1	57096	broad.mit.edu	37	14	21793083	21793083	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr14:21793083T>A	ENST00000400017.2	+	14	2069	c.2069T>A	c.(2068-2070)tTc>tAc	p.F690Y	RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.F49Y|RPGRIP1_ENST00000206660.6_Missense_Mutation_p.F690Y|RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.F652Y|RPGRIP1_ENST00000553500.1_Intron	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	690					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GATTCGCTTTTCTTACACTAC	0.507																																						ENST00000206660.6																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39						c.(2068-2070)tTc>tAc		retinitis pigmentosa GTPase regulator interacting protein 1							171.0	161.0	164.0					14																	21793083		1990	4161	6151	SO:0001583	missense	57096				response to stimulus|visual perception	cilium		g.chr14:21793083T>A	AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.2069T>A	14.37:g.21793083T>A	ENSP00000382895:p.Phe690Tyr					RPGRIP1_ENST00000553500.1_Intron|RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.F49Y|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.F690Y|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.F652Y	p.F690Y			Q96KN7	RPGR1_HUMAN	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)	14	2069	+	all_cancers(95;0.0017)	all_cancers(140;0.0973)	690					Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	ENST00000400017.2	37	c.2069T>A	CCDS45080.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.164686	0.78339	.	.	ENSG00000092200	ENST00000557771;ENST00000400017;ENST00000206660;ENST00000555587;ENST00000307974	D;D;D;D;D	0.93859	-3.3;-3.3;-3.3;-3.3;-3.3	5.53	5.53	0.82687	.	0.384264	0.29417	N	0.012214	D	0.96200	0.8761	M	0.73962	2.25	0.36368	D	0.861119	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.72338	0.96;0.973;0.96;0.96;0.977	D	0.98645	1.0677	10	0.62326	D	0.03	-6.4906	14.7802	0.69760	0.0:0.0:0.0:1.0	.	73;49;165;306;690	Q96KN7-2;Q96KN7-3;G3V3I7;Q96KN7-5;Q96KN7	.;.;.;.;RPGR1_HUMAN	Y	652;690;690;165;49	ENSP00000451219:F652Y;ENSP00000382895:F690Y;ENSP00000206660:F690Y;ENSP00000451262:F165Y;ENSP00000309721:F49Y	ENSP00000206660:F690Y	F	+	2	0	RPGRIP1	20862923	1.000000	0.71417	0.564000	0.28396	0.804000	0.45430	5.264000	0.65513	2.324000	0.78689	0.533000	0.62120	TTC		0.507	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366		69	86	0	0	0	1	0	69	86				
GRM7	2917	broad.mit.edu	37	3	7456772	7456772	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr3:7456772G>T	ENST00000357716.4	+	5	1370	c.1096G>T	c.(1096-1098)Gaa>Taa	p.E366*	GRM7_ENST00000402647.2_Nonsense_Mutation_p.E366*|GRM7_ENST00000486284.1_Nonsense_Mutation_p.E366*|GRM7_ENST00000403881.1_Nonsense_Mutation_p.E366*|GRM7_ENST00000389336.4_Nonsense_Mutation_p.E366*	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	366					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						ATGGTTTGCCGAATACTGGGA	0.408																																						ENST00000486284.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						c.(1096-1098)Gaa>Taa		glutamate receptor, metabotropic 7	L-Glutamic Acid(DB00142)						100.0	93.0	95.0					3																	7456772		2203	4300	6503	SO:0001587	stop_gained	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7456772G>T	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.1096G>T	3.37:g.7456772G>T	ENSP00000350348:p.Glu366*					GRM7_ENST00000357716.4_Nonsense_Mutation_p.E366*|GRM7_ENST00000389336.4_Nonsense_Mutation_p.E366*|GRM7_ENST00000403881.1_Nonsense_Mutation_p.E366*|GRM7_ENST00000402647.2_Nonsense_Mutation_p.E366*	p.E366*	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN			5	1370	+			366					Q8NFS2|Q8NFS3|Q8NFS4	Nonsense_Mutation	SNP	ENST00000357716.4	37	c.1096G>T	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	G	35	5.572749	0.96553	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492;ENST00000445087	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.765	0.91868	0.0:0.0:1.0:0.0	.	.	.	.	X	366;366;366;366;366;366;366;23	.	ENSP00000350348:E366X	E	+	1	0	GRM7	7431772	1.000000	0.71417	0.954000	0.39281	0.799000	0.45148	9.715000	0.98748	2.855000	0.98099	0.650000	0.86243	GAA		0.408	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		15	11	1	0	8.60227e-14	1	1.12231e-13	15	11				
RAG2	5897	broad.mit.edu	37	11	36615385	36615385	+	Missense_Mutation	SNP	T	T	C	rs373703454		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:36615385T>C	ENST00000311485.3	-	2	495	c.334A>G	c.(334-336)Att>Gtt	p.I112V	C11orf74_ENST00000446510.2_5'Flank|C11orf74_ENST00000347206.4_5'Flank|C11orf74_ENST00000334307.5_5'Flank|RAG2_ENST00000528428.1_5'Flank|C11orf74_ENST00000534635.1_5'Flank	NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	112					B cell differentiation (GO:0030183)|chromatin modification (GO:0016568)|pre-B cell allelic exclusion (GO:0002331)|T cell differentiation in thymus (GO:0033077)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				TTGCAAACAATAGACATGACA	0.393									Familial Hemophagocytic Lymphohistiocytosis																													ENST00000311485.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32						c.(334-336)Att>Gtt		recombination activating gene 2		T	VAL/ILE	1,4403	2.1+/-5.4	0,1,2201	158.0	154.0	155.0		334	-2.1	0.9	11		155	0,8596		0,0,4298	no	missense	RAG2	NM_000536.3	29	0,1,6499	CC,CT,TT		0.0,0.0227,0.0077	benign	112/528	36615385	1,12999	2202	4298	6500	SO:0001583	missense	5897	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding	g.chr11:36615385T>C	AF080577	CCDS7903.1	11p13	2014-09-17				ENSG00000175097			9832	protein-coding gene	gene with protein product		179616				1283330	Standard	NM_000536		Approved		uc001mwv.4	P55895		ENST00000311485.3:c.334A>G	11.37:g.36615385T>C	ENSP00000308620:p.Ile112Val						p.I112V	NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN			2	495	-	all_lung(20;0.226)	all_hematologic(20;0.00756)	112					A8K9E9|Q8TBL4	Missense_Mutation	SNP	ENST00000311485.3	37	c.334A>G	CCDS7903.1	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.449281	0.00175	2.27E-4	0.0	ENSG00000175097	ENST00000311485;ENST00000529083	T;T	0.73681	-0.74;-0.77	5.52	-2.13	0.07144	Galactose oxidase/kelch, beta-propeller (1);Kelch-type beta propeller (1);	0.752332	0.12612	N	0.453809	T	0.29423	0.0733	N	0.00514	-1.41	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37197	-0.9716	10	0.02654	T	1	-0.4939	3.1193	0.06386	0.1376:0.3564:0.0866:0.4195	.	112	P55895	RAG2_HUMAN	V	112	ENSP00000308620:I112V;ENSP00000436327:I112V	ENSP00000308620:I112V	I	-	1	0	RAG2	36571961	0.000000	0.05858	0.866000	0.34008	0.733000	0.41908	-1.682000	0.01935	-0.758000	0.04690	-1.869000	0.00555	ATT		0.393	RAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389536.1	NM_000536		25	57	0	0	0	1	0	25	57				
CFH	3075	broad.mit.edu	37	1	196645186	196645186	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:196645186A>T	ENST00000359637.2	+	4	480	c.418A>T	c.(418-420)Ata>Tta	p.I140L	CFH_ENST00000439155.2_Missense_Mutation_p.I140L|CFH_ENST00000367429.4_Missense_Mutation_p.I140L			P08603	CFAH_HUMAN	complement factor H	204	Sushi 2. {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						TGATATTCCTATATGTGAAGG	0.274																																						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.(418-420)Ata>Tta		complement factor H							159.0	147.0	151.0					1																	196645186		2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196645186A>T	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	ENST00000359637.2:c.418A>T	1.37:g.196645186A>T	ENSP00000352658:p.Ile140Leu					CFH_ENST00000439155.2_Missense_Mutation_p.I140L|CFH_ENST00000359637.2_Missense_Mutation_p.I140L	p.I140L	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			4	658	+			140			Sushi 2.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000359637.2	37	c.418A>T		.	.	.	.	.	.	.	.	.	.	A	7.193	0.591913	0.13812	.	.	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	T;T;T	0.63913	-0.07;-0.07;-0.07	5.5	-11.0	0.00169	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.30947	0.0781	N	0.13299	0.325	0.09310	N	1	B;B;B;B	0.17038	0.004;0.015;0.004;0.02	B;B;B;B	0.15052	0.003;0.012;0.006;0.007	T	0.11179	-1.0598	9	0.27785	T	0.31	.	2.0769	0.03626	0.1329:0.3282:0.1381:0.4008	.	140;140;140;140	Q5TFM2;P08603-2;P08603;F8WDX4	.;.;CFAH_HUMAN;.	L	140	ENSP00000356399:I140L;ENSP00000402656:I140L;ENSP00000352658:I140L	ENSP00000352658:I140L	I	+	1	0	CFH	194911809	0.000000	0.05858	0.009000	0.14445	0.973000	0.67179	-4.381000	0.00243	-2.782000	0.00360	0.379000	0.24179	ATA		0.274	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1	NM_000186		18	29	0	0	0	1	0	18	29				
PTPN3	5774	broad.mit.edu	37	9	112172686	112172686	+	Silent	SNP	G	G	A	rs199620488		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:112172686G>A	ENST00000374541.2	-	15	1427	c.1323C>T	c.(1321-1323)tcC>tcT	p.S441S	PTPN3_ENST00000262539.3_Silent_p.S287S|PTPN3_ENST00000446349.1_Silent_p.S265S|PTPN3_ENST00000394827.3_5'UTR|PTPN3_ENST00000412145.1_Silent_p.S310S	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	441					negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GATTGTTCTCGGATAAACTCC	0.488																																						ENST00000412145.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(928-930)tcC>tcT		protein tyrosine phosphatase, non-receptor type 3							79.0	86.0	84.0					9																	112172686		2202	4300	6502	SO:0001819	synonymous_variant	5774				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112172686G>A		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.1323C>T	9.37:g.112172686G>A						PTPN3_ENST00000446349.1_Silent_p.S265S|PTPN3_ENST00000262539.3_Silent_p.S287S|PTPN3_ENST00000394827.3_5'UTR|PTPN3_ENST00000374541.2_Silent_p.S441S	p.S310S	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN			10	3483	-			441			FERM.		A0AUW9|E7EN99|E9PGU7	Silent	SNP	ENST00000374541.2	37	c.930C>T	CCDS6776.1																																																																																				0.488	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			33	62	0	0	0	1	0	33	62				
ADAMTSL3	57188	broad.mit.edu	37	15	84639319	84639319	+	Silent	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr15:84639319C>T	ENST00000286744.5	+	20	2798	c.2574C>T	c.(2572-2574)ctC>ctT	p.L858L	ADAMTSL3_ENST00000567476.1_Silent_p.L858L|ADAMTSL3_ENST00000567716.1_3'UTR	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	858	TSP type-1 7. {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)			GCATCCCCCTCAGTGAGATGA	0.527																																						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.(2572-2574)ctC>ctT		ADAMTS-like 3							184.0	161.0	169.0					15																	84639319		2203	4300	6503	SO:0001819	synonymous_variant	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84639319C>T	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.2574C>T	15.37:g.84639319C>T						ADAMTSL3_ENST00000567476.1_Silent_p.L858L|ADAMTSL3_ENST00000567716.1_3'UTR	p.L858L	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		20	2798	+			858			TSP type-1 7.		A1A566|A1A567|Q9ULI7	Silent	SNP	ENST00000286744.5	37	c.2574C>T	CCDS10326.1																																																																																				0.527	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		4	67	0	0	0	1	0	4	67				
ANK2	287	broad.mit.edu	37	4	114279309	114279309	+	Missense_Mutation	SNP	G	G	A	rs527731735		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:114279309G>A	ENST00000357077.4	+	38	9588	c.9535G>A	c.(9535-9537)Gca>Aca	p.A3179T	ANK2_ENST00000264366.6_Missense_Mutation_p.A3146T|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3179					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)		GGATGATGAGGCAGACTTACT	0.478													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20724	0.0		0.0	False		,,,				2504	0.0					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.(9535-9537)Gca>Aca		ankyrin 2, neuronal							63.0	62.0	62.0					4																	114279309		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114279309G>A	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.9535G>A	4.37:g.114279309G>A	ENSP00000349588:p.Ala3179Thr					ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.A3146T|ANK2_ENST00000509550.1_Intron	p.A3179T	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	9588	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	3146					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.9535G>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	6.773	0.511479	0.12944	.	.	ENSG00000145362	ENST00000357077;ENST00000264366;ENST00000505342	T;T;D	0.96073	-0.24;-0.25;-3.9	5.68	4.66	0.58398	.	0.351379	0.24204	N	0.040595	D	0.90943	0.7153	L	0.50333	1.59	0.09310	N	1	B;B	0.18310	0.0;0.027	B;B	0.16289	0.002;0.015	T	0.77819	-0.2446	10	0.34782	T	0.22	.	3.0794	0.06256	0.1266:0.1708:0.5274:0.1753	.	3146;3179	Q01484;Q01484-4	ANK2_HUMAN;.	T	3179;3146;189	ENSP00000349588:A3179T;ENSP00000264366:A3146T;ENSP00000422498:A189T	ENSP00000264366:A3146T	A	+	1	0	ANK2	114498758	0.176000	0.23096	0.873000	0.34254	0.960000	0.62799	1.329000	0.33770	2.677000	0.91161	0.563000	0.77884	GCA		0.478	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		20	22	0	0	0	1	0	20	22				
HCN3	57657	broad.mit.edu	37	1	155255066	155255066	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:155255066A>C	ENST00000368358.3	+	5	1208	c.1200A>C	c.(1198-1200)gaA>gaC	p.E400D	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	400					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCGATGAGGAAAGCATCCTGG	0.622																																						ENST00000368358.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1198-1200)gaA>gaC		hyperpolarization activated cyclic nucleotide-gated potassium channel 3							58.0	51.0	53.0					1																	155255066		2203	4300	6503	SO:0001583	missense	57657					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr1:155255066A>C	AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.1200A>C	1.37:g.155255066A>C	ENSP00000357342:p.Glu400Asp					HCN3_ENST00000496230.1_3'UTR	p.E400D	NM_020897.1	NP_065948.1	Q9P1Z3	HCN3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		5	1208	+	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		400					D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	Missense_Mutation	SNP	ENST00000368358.3	37	c.1200A>C	CCDS1108.1	.	.	.	.	.	.	.	.	.	.	A	13.72	2.320216	0.41096	.	.	ENSG00000143630	ENST00000368358	D	0.96774	-4.12	5.2	-2.52	0.06346	Cyclic nucleotide-binding-like (1);	0.121167	0.36893	N	0.002356	D	0.83543	0.5277	L	0.31157	0.91	0.46458	D	0.999051	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.69143	-0.5223	10	0.30854	T	0.27	.	5.6835	0.17790	0.445:0.246:0.3089:0.0	.	95;400	B7Z5R8;Q9P1Z3	.;HCN3_HUMAN	D	400	ENSP00000357342:E400D	ENSP00000357342:E400D	E	+	3	2	HCN3	153521690	0.786000	0.28738	0.989000	0.46669	0.957000	0.61999	-0.092000	0.11129	-0.373000	0.07979	-0.385000	0.06624	GAA		0.622	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087388.1	NM_020897		31	28	0	0	0	1	0	31	28				
IGHD1-26	28506	broad.mit.edu	37	14	106349775	106349775	+	RNA	SNP	C	C	T	rs538893552		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr14:106349775C>T	ENST00000390567.1	-	0	0				IGHD4-23_ENST00000437320.1_RNA|IGHD5-24_ENST00000390569.1_RNA|IGHD3-22_ENST00000390571.1_RNA|IGHD6-25_ENST00000452198.1_RNA					immunoglobulin heavy diversity 1-26																		TTGTAGCCATCTCTACCACGG	0.622													.|||	1	0.000199681	0.0008	0.0	5008	,	,		4307	0.0		0.0	False		,,,				2504	0.0					ENST00000390569.1																			0																				124.0	129.0	127.0					14																	106349775		1959	4030	5989			28489							g.chr14:106349775C>T	X97051		14q32.33	2012-02-08			ENSG00000211907	ENSG00000211907		"""Immunoglobulins / IGH locus"""	5485	other	immunoglobulin gene							Standard	NG_001019		Approved	IGHD126			OTTHUMG00000152429		14.37:g.106349775C>T														0	5	-									RNA	SNP	ENST00000390567.1	37																																																																																						0.622	IGHD1-26-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	IG_D_gene	IG_D_gene	OTTHUMT00000326207.1	NG_001019		19	47	0	0	0	1	0	19	47				
SCP2D1	140856	broad.mit.edu	37	20	18794793	18794793	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr20:18794793G>T	ENST00000377428.2	+	1	424	c.334G>T	c.(334-336)Gag>Tag	p.E112*	C20orf78_ENST00000463425.1_5'Flank|C20orf78_ENST00000278779.4_Intron	NM_178483.2	NP_848578.1	Q9UJQ7	SCP2D_HUMAN	SCP2 sterol-binding domain containing 1	112	SCP2.																TACAATCCCGGAGTCTGTCTT	0.507																																						ENST00000377428.2																			0											c.(334-336)Gag>Tag		SCP2 sterol-binding domain containing 1							57.0	62.0	60.0					20																	18794793		2203	4300	6503	SO:0001587	stop_gained	140856							g.chr20:18794793G>T	AL035563	CCDS13139.1	20p11.23	2012-10-29	2012-10-29	2012-10-29	ENSG00000132631	ENSG00000132631			16211	protein-coding gene	gene with protein product	"""sterol carrier protein 2-like protein"""		"""chromosome 20 open reading frame 79"""	C20orf79		16501878	Standard	NM_178483		Approved	dJ1068E13.2, HSD22	uc002wrk.3	Q9UJQ7	OTTHUMG00000031983	ENST00000377428.2:c.334G>T	20.37:g.18794793G>T	ENSP00000366645:p.Glu112*					C20orf78_ENST00000278779.4_Intron	p.E112*	NM_178483.2	NP_848578.1					1	424	+								Q548A4	Nonsense_Mutation	SNP	ENST00000377428.2	37	c.334G>T	CCDS13139.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.461209	0.63513	.	.	ENSG00000132631	ENST00000377428	.	.	.	6.08	5.08	0.68730	.	0.293631	0.29587	N	0.011734	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-21.4541	14.6081	0.68495	0.0:0.1466:0.8534:0.0	.	.	.	.	X	112	.	ENSP00000366645:E112X	E	+	1	0	C20orf79	18742793	1.000000	0.71417	0.214000	0.23707	0.410000	0.31052	5.025000	0.64097	2.894000	0.99253	0.591000	0.81541	GAG		0.507	SCP2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078193.1	NM_178483		10	30	1	0	0.000442599	1	0.000479633	10	30				
HTR3A	3359	broad.mit.edu	37	11	113860189	113860189	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:113860189A>T	ENST00000504030.2	+	9	1586	c.1141A>T	c.(1141-1143)Atg>Ttg	p.M381L	HTR3A_ENST00000535865.1_Missense_Mutation_p.M125L|HTR3A_ENST00000375498.2_Missense_Mutation_p.M387L|HTR3A_ENST00000506841.2_Missense_Mutation_p.M413L|HTR3A_ENST00000299961.5_Missense_Mutation_p.M366L|HTR3A_ENST00000355556.2_Missense_Mutation_p.M419L			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	381					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	TCTTCCAGCCATGGGAAACCA	0.587																																						ENST00000504030.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36						c.(1141-1143)Atg>Ttg		5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						64.0	72.0	70.0					11																	113860189		2200	4296	6496	SO:0001583	missense	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113860189A>T	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.1141A>T	11.37:g.113860189A>T	ENSP00000424189:p.Met381Leu					HTR3A_ENST00000299961.5_Missense_Mutation_p.M366L|HTR3A_ENST00000355556.2_Missense_Mutation_p.M419L|HTR3A_ENST00000535865.1_Missense_Mutation_p.M125L|HTR3A_ENST00000375498.2_Missense_Mutation_p.M387L|HTR3A_ENST00000506841.2_Missense_Mutation_p.M413L	p.M381L			P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	9	1586	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	381					B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	ENST00000504030.2	37	c.1141A>T		.	.	.	.	.	.	.	.	.	.	A	3.684	-0.064955	0.07273	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000535865;ENST00000299961	T;T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15;2.15	5.14	-0.206	0.13193	.	0.404264	0.26122	N	0.026206	T	0.05686	0.0149	N	0.04018	-0.295	0.09310	N	1	B;B;B	0.20887	0.0;0.049;0.0	B;B;B	0.15052	0.002;0.012;0.001	T	0.36553	-0.9743	10	0.05351	T	0.99	-26.431	4.0017	0.09582	0.6032:0.0:0.1343:0.2625	.	366;419;387	B4DSY6;G5E986;Q7KZM7	.;.;.	L	381;419;387;413;125;366	ENSP00000424189:M381L;ENSP00000347754:M419L;ENSP00000364648:M387L;ENSP00000424776:M413L;ENSP00000437776:M125L;ENSP00000299961:M366L	ENSP00000299961:M366L	M	+	1	0	HTR3A	113365399	0.921000	0.31238	0.554000	0.28268	0.165000	0.22458	1.018000	0.30002	-0.221000	0.09973	0.528000	0.53228	ATG		0.587	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		34	73	0	0	0	1	0	34	73				
PRKDC	5591	broad.mit.edu	37	8	48839755	48839755	+	Splice_Site	SNP	T	T	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr8:48839755T>A	ENST00000314191.2	-	21	2474	c.2418A>T	c.(2416-2418)tcA>tcT	p.S806S	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Splice_Site_p.S806S	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	806					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	AAACATTACCTGACAAGGCTG	0.343								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.e21+1	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							77.0	68.0	71.0					8																	48839755		1859	4103	5962	SO:0001630	splice_region_variant	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48839755T>A		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.2419+1A>T	8.37:g.48839755T>A						PRKDC_ENST00000338368.3_Splice_Site_p.S806_splice|PRKDC_ENST00000523565.1_5'UTR	p.S806_splice	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			21	2474	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	806					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Splice_Site	SNP	ENST00000314191.2	37	c.2419_splice																																																																																					0.343	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640	Silent	13	21	0	0	0	1	0	13	21				
NOTCH1	4851	broad.mit.edu	37	9	139418283	139418283	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:139418283G>C	ENST00000277541.6	-	3	364	c.289C>G	c.(289-291)Ctc>Gtc	p.L97V	NOTCH1_ENST00000491649.1_5'UTR	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	97	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTCAGGCAGAGGGGCCCAGAG	0.677			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(289-291)Ctc>Gtc		notch 1							25.0	37.0	33.0					9																	139418283		2152	4250	6402	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139418283G>C	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.289C>G	9.37:g.139418283G>C	ENSP00000277541:p.Leu97Val	HNSCC(8;0.001)				NOTCH1_ENST00000491649.1_5'UTR	p.L97V	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	3	364	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	97			EGF-like 2.		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.289C>G	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	5.848	0.340724	0.11069	.	.	ENSG00000148400	ENST00000277541	T	0.56776	0.44	4.91	3.01	0.34805	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.365690	0.23627	N	0.046163	T	0.36468	0.0968	L	0.35487	1.065	0.27400	N	0.954872	B	0.16802	0.019	B	0.24848	0.056	T	0.20438	-1.0275	10	0.13853	T	0.58	.	7.5223	0.27635	0.0887:0.323:0.5883:0.0	.	97	P46531	NOTC1_HUMAN	V	97	ENSP00000277541:L97V	ENSP00000277541:L97V	L	-	1	0	NOTCH1	138538104	0.988000	0.35896	0.607000	0.28956	0.712000	0.41017	3.036000	0.49767	1.002000	0.39104	0.561000	0.74099	CTC		0.677	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		13	13	0	0	0	1	0	13	13				
ZNF292	23036	broad.mit.edu	37	6	87967926	87967926	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:87967926G>C	ENST00000369577.3	+	8	4622	c.4579G>C	c.(4579-4581)Gtg>Ctg	p.V1527L	ZNF292_ENST00000339907.4_Missense_Mutation_p.V1522L	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1527						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)		AAATGCAACGGTGATGCCAAA	0.463																																						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.(4579-4581)Gtg>Ctg		zinc finger protein 292							53.0	53.0	53.0					6																	87967926		2034	4181	6215	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87967926G>C	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.4579G>C	6.37:g.87967926G>C	ENSP00000358590:p.Val1527Leu					ZNF292_ENST00000339907.4_Missense_Mutation_p.V1522L	p.V1527L	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	4622	+		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)	1527					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.4579G>C	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	G	6.908	0.537110	0.13188	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.07567	3.18;3.19	5.87	4.98	0.66077	.	0.405345	0.23476	N	0.047772	T	0.01905	0.0060	N	0.19112	0.55	0.27789	N	0.942879	B	0.13145	0.007	B	0.09377	0.004	T	0.42565	-0.9444	10	0.30854	T	0.27	.	10.4855	0.44719	0.0688:0.0:0.7962:0.135	.	1527	O60281	ZN292_HUMAN	L	1527;1522	ENSP00000358590:V1527L;ENSP00000342847:V1522L	ENSP00000342847:V1522L	V	+	1	0	ZNF292	88024645	0.994000	0.37717	0.893000	0.35052	0.729000	0.41735	1.115000	0.31209	1.435000	0.47434	0.655000	0.94253	GTG		0.463	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		7	9	0	0	0	1	0	7	9				
AGAP7P	653268	broad.mit.edu	37	10	51465411	51465411	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr10:51465411C>G	ENST00000374095.5	-	7	1170	c.1045G>C	c.(1045-1047)Ggt>Cgt	p.G349R		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN		349	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						ATGGAGTCACCCAGCCCGGTG	0.547																																						ENST00000374095.5																			0				kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						c.(1045-1047)Ggt>Cgt		ArfGAP with GTPase domain, ankyrin repeat and PH domain 7							89.0	106.0	100.0					10																	51465411		2202	4295	6497	SO:0001583	missense	653268				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51465411C>G																												ENST00000374095.5:c.1045G>C	10.37:g.51465411C>G	ENSP00000363208:p.Gly349Arg						p.G349R	NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN			7	1170	-			349			PH.		A6NGH4	Missense_Mutation	SNP	ENST00000374095.5	37	c.1045G>C	CCDS41524.1	.	.	.	.	.	.	.	.	.	.	.	12.28	1.891143	0.33348	.	.	ENSG00000204169	ENST00000374095	T	0.57595	0.39	.	.	.	Pleckstrin homology domain (3);	0.637620	0.15157	N	0.277351	T	0.57621	0.2066	L	0.49350	1.555	0.45554	D	0.998508	D	0.63046	0.992	P	0.61722	0.893	T	0.56129	-0.8030	9	0.72032	D	0.01	.	5.9763	0.19382	0.0:0.9994:0.0:6.0E-4	.	349	Q5VUJ5	AGAP7_HUMAN	R	349	ENSP00000363208:G349R	ENSP00000363208:G349R	G	-	1	0	AGAP7	51135417	0.000000	0.05858	0.127000	0.21898	0.129000	0.20672	0.266000	0.18534	0.172000	0.19760	0.175000	0.17021	GGT		0.547	AGAP7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048033.1			29	104	0	0	0	1	0	29	104				
SERHL	94009	broad.mit.edu	37	22	42896698	42896698	+	RNA	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr22:42896698G>A	ENST00000359906.2	+	0	103					NR_027786.1		Q9NQF3	SERHL_HUMAN	serine hydrolase-like								hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)	2						CGCCGCACCAGGTCGCCTTAG	0.647																																						ENST00000359906.2																			0				endometrium(1)|large_intestine(1)	2								serine hydrolase-like							58.0	45.0	49.0					22																	42896698		2203	4300	6503			94009							g.chr22:42896698G>A	AL365513		22q13.2-q13.31	2009-10-06				ENSG00000172250			14408	protein-coding gene	gene with protein product	"""kraken-like"""	607979				11352564	Standard	NR_027786		Approved	HS126B42, BK126B4.1, dJ222E13.1	uc021wql.1	Q9NQF3			22.37:g.42896698G>A								NR_027786.1						0	103	+								Q5JZ95|Q9UH21	RNA	SNP	ENST00000359906.2	37																																																																																						0.647	SERHL-001	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000320498.2	NM_170694		7	23	0	0	0	1	0	7	23				
FRMD1	79981	broad.mit.edu	37	6	168475987	168475987	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:168475987T>C	ENST00000283309.6	-	2	306	c.242A>G	c.(241-243)cAg>cGg	p.Q81R	FRMD1_ENST00000440994.2_Missense_Mutation_p.Q13R	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	81	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GCACACTTGCTGGAAAAGCTC	0.612																																					GBM(50;8 1094 9538 34399)|Ovarian(80;676 1857 8675 49015)	ENST00000283309.6																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19						c.(241-243)cAg>cGg		FERM domain containing 1							77.0	72.0	74.0					6																	168475987		2203	4300	6503	SO:0001583	missense	79981					cytoskeleton	binding	g.chr6:168475987T>C		CCDS5306.1, CCDS47518.1	6q27	2008-10-23			ENSG00000153303	ENSG00000153303			21240	protein-coding gene	gene with protein product							Standard	NM_001122841		Approved	FLJ00181, DKFZp434O0117, FLJ40260, FLJ22615, bA164L23.1	uc003qwo.4	Q8N878	OTTHUMG00000016037	ENST00000283309.6:c.242A>G	6.37:g.168475987T>C	ENSP00000283309:p.Gln81Arg					FRMD1_ENST00000440994.2_Missense_Mutation_p.Q13R	p.Q81R	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)	2	306	-		Breast(66;1.07e-05)|Ovarian(120;0.0728)	81			FERM.		B2RNV8|B3KUM6|Q5SZU7|Q9UFB0	Missense_Mutation	SNP	ENST00000283309.6	37	c.242A>G	CCDS5306.1	.	.	.	.	.	.	.	.	.	.	T	4.485	0.089864	0.08632	.	.	ENSG00000153303	ENST00000283309;ENST00000440994;ENST00000511714	T;T;T	0.76316	-1.01;-1.01;-1.01	2.25	1.04	0.20106	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.479531	0.18765	U	0.131775	T	0.55433	0.1920	M	0.64997	1.995	0.80722	D	1	B;B	0.31769	0.339;0.094	B;B	0.29716	0.106;0.039	T	0.55302	-0.8162	10	0.66056	D	0.02	.	5.0423	0.14465	0.0:0.159:0.0:0.841	.	81;13	Q8N878;Q8N878-2	FRMD1_HUMAN;.	R	81;13;123	ENSP00000283309:Q81R;ENSP00000414115:Q13R;ENSP00000424439:Q123R	ENSP00000283309:Q81R	Q	-	2	0	FRMD1	168218836	0.980000	0.34600	0.946000	0.38457	0.347000	0.29111	0.093000	0.15086	0.146000	0.19002	0.260000	0.18958	CAG		0.612	FRMD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362513.2	NM_024919		11	31	0	0	0	1	0	11	31				
ADAM7	8756	broad.mit.edu	37	8	24339681	24339681	+	Silent	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr8:24339681G>T	ENST00000175238.6	+	9	815	c.732G>T	c.(730-732)gtG>gtT	p.V244V	ADAM7_ENST00000380789.1_Silent_p.V244V|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000520720.1_Silent_p.V16V	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	244	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.		V -> M (in dbSNP:rs13255694).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		ACATCCATGTGACGTTGGTTG	0.294																																						ENST00000175238.6																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64						c.(730-732)gtG>gtT		ADAM metallopeptidase domain 7							89.0	87.0	87.0					8																	24339681		2203	4298	6501	SO:0001819	synonymous_variant	8756				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24339681G>T	AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.732G>T	8.37:g.24339681G>T						ADAM7_ENST00000520720.1_Silent_p.V16V|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Silent_p.V244V	p.V244V	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)	9	815	+		Prostate(55;0.0181)	244		V -> M (in dbSNP:rs13255694).	Peptidase M12B.		A8K8X7|O75959|Q6PEJ6	Silent	SNP	ENST00000175238.6	37	c.732G>T	CCDS6045.1																																																																																				0.294	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817		5	19	1	0	0.184627	1	0.186737	5	19				
INTS7	25896	broad.mit.edu	37	1	212118150	212118150	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:212118150C>G	ENST00000366994.3	-	19	2681	c.2577G>C	c.(2575-2577)caG>caC	p.Q859H	INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366993.3_Missense_Mutation_p.Q845H|INTS7_ENST00000366992.3_Missense_Mutation_p.Q839H|INTS7_ENST00000440600.2_Missense_Mutation_p.Q810H	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	859					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		CAGATTTACTCTGCAGTGTGG	0.418																																						ENST00000366994.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(2575-2577)caG>caC		integrator complex subunit 7							178.0	176.0	177.0					1																	212118150		2203	4300	6503	SO:0001583	missense	25896				snRNA processing	integrator complex	protein binding	g.chr1:212118150C>G	AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"""chromosome 1 open reading frame 73"""	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.2577G>C	1.37:g.212118150C>G	ENSP00000355961:p.Gln859His					INTS7_ENST00000440600.2_Missense_Mutation_p.Q810H|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_Missense_Mutation_p.Q839H|INTS7_ENST00000366993.3_Missense_Mutation_p.Q845H	p.Q859H	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)	19	2681	-			859					B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Missense_Mutation	SNP	ENST00000366994.3	37	c.2577G>C	CCDS1501.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.370042	0.82573	.	.	ENSG00000143493	ENST00000366994;ENST00000366993;ENST00000366992;ENST00000440600	T;T;T;T	0.46451	0.92;0.92;0.87;0.92	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.56949	0.2020	L	0.43152	1.355	0.80722	D	1	D;D;D;D	0.64830	0.994;0.988;0.988;0.994	D;D;D;D	0.75484	0.986;0.977;0.977;0.986	T	0.43686	-0.9376	10	0.17832	T	0.49	-19.77	19.5159	0.95165	0.0:1.0:0.0:0.0	.	810;839;845;859	B4DLZ6;Q9NVH2-3;Q9NVH2-2;Q9NVH2	.;.;.;INT7_HUMAN	H	859;845;839;810	ENSP00000355961:Q859H;ENSP00000355960:Q845H;ENSP00000355959:Q839H;ENSP00000388908:Q810H	ENSP00000355959:Q839H	Q	-	3	2	INTS7	210184773	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.085000	0.50151	2.621000	0.88768	0.655000	0.94253	CAG		0.418	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434		5	74	0	0	0	1	0	5	74				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A						EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000332482.4_Silent_p.Q2688Q	p.Q2761Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		4	56	0	0	0	1	0	4	56				
SLITRK2	84631	broad.mit.edu	37	X	144904200	144904200	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chrX:144904200C>A	ENST00000370490.1	+	1	4512	c.257C>A	c.(256-258)tCc>tAc	p.S86Y	SLITRK2_ENST00000434188.2_Missense_Mutation_p.S86Y|SLITRK2_ENST00000447897.2_Missense_Mutation_p.S86Y|SLITRK2_ENST00000413937.2_Missense_Mutation_p.S86Y|SLITRK2_ENST00000428560.2_Missense_Mutation_p.S86Y			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	86					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					GTCAATTACTCCAACGCGGTG	0.473																																						ENST00000370490.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86						c.(256-258)tCc>tAc		SLIT and NTRK-like family, member 2							91.0	84.0	86.0					X																	144904200		2203	4300	6503	SO:0001583	missense	84631					integral to membrane		g.chrX:144904200C>A	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.257C>A	X.37:g.144904200C>A	ENSP00000359521:p.Ser86Tyr					SLITRK2_ENST00000447897.2_Missense_Mutation_p.S86Y|SLITRK2_ENST00000434188.2_Missense_Mutation_p.S86Y|SLITRK2_ENST00000428560.2_Missense_Mutation_p.S86Y|SLITRK2_ENST00000413937.2_Missense_Mutation_p.S86Y	p.S86Y			Q9H156	SLIK2_HUMAN			1	4512	+	Acute lymphoblastic leukemia(192;6.56e-05)		86					A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	c.257C>A	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962514	0.74016	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56	5.08	5.08	0.68730	.	0.207947	0.41294	U	0.000910	T	0.62159	0.2405	L	0.55017	1.72	0.39071	D	0.960713	D	0.58970	0.984	P	0.57620	0.824	T	0.62900	-0.6756	10	0.33141	T	0.24	-7.9396	14.8435	0.70243	0.0:1.0:0.0:0.0	.	86	Q9H156	SLIK2_HUMAN	Y	86	ENSP00000334374:S86Y;ENSP00000411681:S86Y;ENSP00000359521:S86Y;ENSP00000397015:S86Y;ENSP00000407347:S86Y;ENSP00000412010:S86Y	ENSP00000334374:S86Y	S	+	2	0	SLITRK2	144711892	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.330000	0.65899	2.087000	0.62958	0.600000	0.82982	TCC		0.473	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		28	18	1	0	0.144211	1	0.146979	28	18				
AFF3	3899	broad.mit.edu	37	2	100209885	100209885	+	Silent	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:100209885G>A	ENST00000409236.2	-	13	2350	c.2238C>T	c.(2236-2238)gtC>gtT	p.V746V	AFF3_ENST00000356421.2_Silent_p.V771V|AFF3_ENST00000317233.4_Silent_p.V746V|AFF3_ENST00000409579.1_Silent_p.V771V			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	746					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						GGCCAAAGGGGACCAGTGTGT	0.587																																						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.(2236-2238)gtC>gtT		AF4/FMR2 family, member 3							71.0	67.0	69.0					2																	100209885		2203	4300	6503	SO:0001819	synonymous_variant	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100209885G>A	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.2238C>T	2.37:g.100209885G>A						AFF3_ENST00000409579.1_Silent_p.V771V|AFF3_ENST00000409236.1_Silent_p.V746V|AFF3_ENST00000356421.2_Silent_p.V771V	p.V746V	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			14	2473	-			746					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Silent	SNP	ENST00000409236.2	37	c.2238C>T	CCDS42723.1																																																																																				0.587	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		29	37	0	0	0	1	0	29	37				
CACNA1B	774	broad.mit.edu	37	9	141006849	141006849	+	Splice_Site	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:141006849G>A	ENST00000371372.1	+	40	5573		c.e40-1		CACNA1B_ENST00000371363.1_Splice_Site|CACNA1B_ENST00000371365.2_Splice_Site|CACNA1B_ENST00000277549.5_Splice_Site|CACNA1B_ENST00000371355.4_Splice_Site|CACNA1B_ENST00000371357.1_Splice_Site|CACNA1B_ENST00000277551.2_Splice_Site	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit						calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	TCCTGGTGCAGCTGGGACAAA	0.572																																						ENST00000277549.5																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.e40-1		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						66.0	70.0	69.0					9																	141006849		2020	4192	6212	SO:0001630	splice_region_variant	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:141006849G>A	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.5429-1G>A	9.37:g.141006849G>A						CACNA1B_ENST00000371363.1_Splice_Site|CACNA1B_ENST00000277551.2_Splice_Site|CACNA1B_ENST00000371365.2_Splice_Site|CACNA1B_ENST00000371355.4_Splice_Site|CACNA1B_ENST00000371357.1_Splice_Site|CACNA1B_ENST00000371372.1_Splice_Site				Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	40	5579	+	all_cancers(76;0.166)							B1AQK5	Splice_Site	SNP	ENST00000371372.1	37		CCDS59522.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.681422	0.29872	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7761	0.88508	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CACNA1B	140126670	1.000000	0.71417	0.993000	0.49108	0.017000	0.09413	6.426000	0.73374	2.664000	0.90586	0.655000	0.94253	.		0.572	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718	Intron	19	31	0	0	0	1	0	19	31				
BTNL2	56244	broad.mit.edu	37	6	32370924	32370924	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:32370924G>T	ENST00000374993.1	-	3	496	c.497C>A	c.(496-498)gCa>gAa	p.A166E	BTNL2_ENST00000544175.1_Intron|BTNL2_ENST00000414363.1_Intron|BTNL2_ENST00000454136.3_Missense_Mutation_p.A166E|BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000374995.3_Intron|BTNL2_ENST00000429232.2_Intron	NM_019602.1	NP_062548.1	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	166	Ig-like V-type 2.					integral component of membrane (GO:0016021)				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						CCAGCCCCTTGCAGTGCACAC	0.602																																						ENST00000454136.3																			0				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						c.(496-498)gCa>gAa		butyrophilin-like 2 (MHC class II associated)							42.0	41.0	41.0					6																	32370924		1507	2708	4215	SO:0001583	missense	56244					integral to membrane		g.chr6:32370924G>T	AF186588		6p21.3	2014-01-14			ENSG00000204290	ENSG00000204290		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1142	protein-coding gene	gene with protein product		606000				10803852, 15735647	Standard	XM_006726138		Approved	HSBLMHC1, BTL-II, BTN7	uc003obg.1	Q9UIR0	OTTHUMG00000031102	ENST00000374993.1:c.497C>A	6.37:g.32370924G>T	ENSP00000364132:p.Ala166Glu					BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000429232.2_Intron|BTNL2_ENST00000374993.1_Missense_Mutation_p.A166E|BTNL2_ENST00000374995.3_Intron|BTNL2_ENST00000414363.1_Intron|BTNL2_ENST00000544175.1_Intron	p.A166E			Q9UIR0	BTNL2_HUMAN			3	501	-			166			Ig-like V-type 2.		A0PJV5|B0UYW9|B0V0N6|O98261|Q08E96|Q58R22|Q58R23|Q5JYF9|Q5MP42|Q5MP43|Q5RIF8|Q5SP08|Q5SP09|Q5SRW3|Q5SRW4|Q5SU36|Q95HK0	Missense_Mutation	SNP	ENST00000374993.1	37	c.497C>A		.	.	.	.	.	.	.	.	.	.	G	18.81	3.703506	0.68501	.	.	ENSG00000204290	ENST00000468270;ENST00000374993	T	0.76839	-1.05	4.35	4.35	0.52113	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.276047	0.26369	N	0.024765	T	0.75243	0.3823	M	0.73962	2.25	0.80722	D	1	P	0.45672	0.864	P	0.47015	0.534	T	0.79878	-0.1617	10	0.66056	D	0.02	.	12.7334	0.57210	0.0:0.0:1.0:0.0	.	166	Q9UIR0	BTNL2_HUMAN	E	166	ENSP00000364132:A166E	ENSP00000364132:A166E	A	-	2	0	BTNL2	32478902	0.343000	0.24818	0.692000	0.30179	0.677000	0.39632	5.084000	0.64462	2.456000	0.83038	0.626000	0.83405	GCA		0.602	BTNL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_019602		6	17	1	0	2.0095e-06	1	2.28489e-06	6	17				
HPGD	3248	broad.mit.edu	37	4	175416710	175416710	+	Missense_Mutation	SNP	G	G	A	rs181587981		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:175416710G>A	ENST00000296522.6	-	5	933	c.487C>T	c.(487-489)Cgc>Tgc	p.R163C	HPGD_ENST00000422112.2_Missense_Mutation_p.R95C|HPGD_ENST00000510901.1_Missense_Mutation_p.R42C|HPGD_ENST00000542498.1_Intron|HPGD_ENST00000296521.7_Missense_Mutation_p.R163C|HPGD_ENST00000541923.1_Missense_Mutation_p.R42C	NM_000860.5|NM_001145816.2|NM_001256301.1|NM_001256307.1	NP_000851.2|NP_001139288.1|NP_001243230.1|NP_001243236.1	P15428	PGDH_HUMAN	hydroxyprostaglandin dehydrogenase 15-(NAD)	163					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|ductus arteriosus closure (GO:0097070)|female pregnancy (GO:0007565)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|ovulation (GO:0030728)|parturition (GO:0007567)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|thrombin receptor signaling pathway (GO:0070493)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|catalytic activity (GO:0003824)|NAD binding (GO:0051287)|NAD+ binding (GO:0070403)|prostaglandin E receptor activity (GO:0004957)|protein homodimerization activity (GO:0042803)			kidney(1)|lung(3)|prostate(3)	7		Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)		all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253)		GCTGCTGAGCGTGTGAATCCA	0.403													G|||	1	0.000199681	0.0	0.0	5008	,	,		17213	0.001		0.0	False		,,,				2504	0.0					ENST00000296522.6																			0				kidney(1)|lung(3)|prostate(3)	7						c.(487-489)Cgc>Tgc		hydroxyprostaglandin dehydrogenase 15-(NAD)	NADH(DB00157)						96.0	86.0	90.0					4																	175416710		2203	4300	6503	SO:0001583	missense	3248				female pregnancy|lipoxygenase pathway|negative regulation of cell cycle|parturition|prostaglandin metabolic process|transforming growth factor beta receptor signaling pathway	cytosol|nucleus	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|NAD+ binding|prostaglandin E receptor activity|protein homodimerization activity	g.chr4:175416710G>A		CCDS3821.1, CCDS54821.1, CCDS58933.1, CCDS58934.1, CCDS58935.1	4q34-q35	2011-09-14			ENSG00000164120	ENSG00000164120	1.1.1.141	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	5154	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 36C, member 1"""	601688				19027726	Standard	NM_000860		Approved	SDR36C1	uc003itu.3	P15428	OTTHUMG00000160772	ENST00000296522.6:c.487C>T	4.37:g.175416710G>A	ENSP00000296522:p.Arg163Cys					HPGD_ENST00000541923.1_Missense_Mutation_p.R42C|HPGD_ENST00000510901.1_Missense_Mutation_p.R42C|HPGD_ENST00000296521.7_Missense_Mutation_p.R163C|HPGD_ENST00000422112.2_Missense_Mutation_p.R95C|HPGD_ENST00000542498.1_Intron	p.R163C	NM_000860.5|NM_001145816.2|NM_001256301.1|NM_001256307.1	NP_000851.2|NP_001139288.1|NP_001243230.1|NP_001243236.1	P15428	PGDH_HUMAN		all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253)	5	933	-		Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)	163					B4DTA4|B4DU74|B4DV57|D3DP43|E7EV11|O00749|Q06F08|Q12998	Missense_Mutation	SNP	ENST00000296522.6	37	c.487C>T	CCDS3821.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	27.2	4.809174	0.90707	.	.	ENSG00000164120	ENST00000296522;ENST00000296521;ENST00000510901;ENST00000422112;ENST00000541923;ENST00000506910;ENST00000514584	D;D;D;D;D;D;D	0.88896	-2.44;-2.44;-2.44;-1.57;-2.44;-2.44;-2.44	5.77	5.77	0.91146	Short-chain dehydrogenase/reductase, conserved site (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.96651	0.8907	H	0.96333	3.805	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	0.997;1.0;1.0;1.0;1.0	D	0.97404	0.9998	10	0.87932	D	0	.	19.603	0.95570	0.0:0.0:1.0:0.0	.	95;163;163;163;42	E7EV11;Q12998;B4DV57;P15428;B4DU74	.;.;.;PGDH_HUMAN;.	C	163;163;42;95;42;42;42	ENSP00000296522:R163C;ENSP00000296521:R163C;ENSP00000422418:R42C;ENSP00000398720:R95C;ENSP00000438017:R42C;ENSP00000423066:R42C;ENSP00000423110:R42C	ENSP00000296521:R163C	R	-	1	0	HPGD	175653285	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	6.307000	0.72815	2.729000	0.93468	0.467000	0.42956	CGC		0.403	HPGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362228.3			7	23	0	0	0	1	0	7	23				
NSD1	64324	broad.mit.edu	37	5	176638879	176638879	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr5:176638879G>A	ENST00000439151.2	+	5	3524	c.3479G>A	c.(3478-3480)tGg>tAg	p.W1160*	NSD1_ENST00000361032.4_Nonsense_Mutation_p.W1057*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.W891*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.W891*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1160					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)		AAAAAGCGGTGGCAGCGTTTA	0.433			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.(3478-3480)tGg>tAg		nuclear receptor binding SET domain protein 1							78.0	75.0	76.0					5																	176638879		2203	4300	6503	SO:0001587	stop_gained	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.chr5:176638879G>A	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.3479G>A	5.37:g.176638879G>A	ENSP00000395929:p.Trp1160*	HNSCC(47;0.14)				NSD1_ENST00000354179.4_Nonsense_Mutation_p.W891*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.W1057*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.W891*	p.W1160*	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	3524	+	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)	1160					Q96PD8|Q96RN7	Nonsense_Mutation	SNP	ENST00000439151.2	37	c.3479G>A	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	42	9.452464	0.99175	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	.	.	.	4.7	4.7	0.59300	.	0.000000	0.50627	D	0.000111	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8501	0.70289	0.0:0.0:1.0:0.0	.	.	.	.	X	891;1160;891;1057	.	.	W	+	2	0	NSD1	176571485	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.880000	0.69698	2.607000	0.88179	0.655000	0.94253	TGG		0.433	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		22	6	0	0	0	1	0	22	6				
NRCAM	4897	broad.mit.edu	37	7	107836287	107836287	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:107836287T>C	ENST00000425651.2	-	12	1380	c.1381A>G	c.(1381-1383)Aac>Gac	p.N461D	NRCAM_ENST00000379024.4_Missense_Mutation_p.N442D|NRCAM_ENST00000379028.3_Missense_Mutation_p.N461D|NRCAM_ENST00000351718.4_Missense_Mutation_p.N455D|NRCAM_ENST00000413765.2_Missense_Mutation_p.N442D|NRCAM_ENST00000379022.4_Missense_Mutation_p.N461D	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	461	Ig-like 5.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TAGAGTGTGTTTGCAGGTGTG	0.403																																						ENST00000379028.3																			0				breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						c.(1381-1383)Aac>Gac		neuronal cell adhesion molecule							155.0	134.0	141.0					7																	107836287		2203	4300	6503	SO:0001583	missense	4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107836287T>C		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.1381A>G	7.37:g.107836287T>C	ENSP00000401244:p.Asn461Asp					NRCAM_ENST00000413765.2_Missense_Mutation_p.N442D|NRCAM_ENST00000379022.4_Missense_Mutation_p.N461D|NRCAM_ENST00000425651.2_Missense_Mutation_p.N461D|NRCAM_ENST00000379024.4_Missense_Mutation_p.N442D|NRCAM_ENST00000351718.4_Missense_Mutation_p.N455D	p.N461D			Q92823	NRCAM_HUMAN			15	1851	-			461			Ig-like 5.		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	c.1381A>G	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	T	14.75	2.628896	0.46944	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022;ENST00000445979	T;T;T;T;T;T	0.27720	1.65;1.65;1.65;1.65;1.65;1.65	5.2	2.77	0.32553	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.090399	0.85682	D	0.000000	T	0.28300	0.0699	L	0.36672	1.1	0.52501	D	0.999955	B;B;B;B;B	0.27229	0.172;0.01;0.127;0.104;0.013	B;B;B;B;B	0.39840	0.16;0.03;0.311;0.207;0.026	T	0.05599	-1.0875	10	0.24483	T	0.36	.	9.8129	0.40835	0.0:0.1438:0.0:0.8562	.	461;442;442;455;461	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	D	461;461;442;461;455;442;461;461;455	ENSP00000368314:N461D;ENSP00000407858:N442D;ENSP00000325269:N455D;ENSP00000368310:N442D;ENSP00000401244:N461D;ENSP00000368308:N461D	ENSP00000325269:N455D	N	-	1	0	NRCAM	107623523	1.000000	0.71417	0.986000	0.45419	0.986000	0.74619	2.496000	0.45346	0.805000	0.34159	0.460000	0.39030	AAC		0.403	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		7	13	0	0	0	1	0	7	13				
CSRNP3	80034	broad.mit.edu	37	2	166532981	166532981	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:166532981G>T	ENST00000342316.4	+	4	840	c.568G>T	c.(568-570)Gga>Tga	p.G190*	CSRNP3_ENST00000314499.7_Nonsense_Mutation_p.G190*|CSRNP3_ENST00000409420.1_Nonsense_Mutation_p.G222*	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	190					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						GCGTGCCTCTGGAGTGAAAAA	0.493																																						ENST00000314499.7																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						c.(568-570)Gga>Tga		cysteine-serine-rich nuclear protein 3							140.0	144.0	143.0					2																	166532981		2203	4300	6503	SO:0001587	stop_gained	80034				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:166532981G>T	AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30729	protein-coding gene	gene with protein product	"""TGF beta induced apotosis protein 2"", ""protein phosphatase 1, regulatory subunit 73"""		"""family with sequence similarity 130, member A2"""	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.568G>T	2.37:g.166532981G>T	ENSP00000344042:p.Gly190*					CSRNP3_ENST00000342316.4_Nonsense_Mutation_p.G190*|CSRNP3_ENST00000409420.1_Nonsense_Mutation_p.G222*	p.G190*	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN			6	944	+			190					B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Nonsense_Mutation	SNP	ENST00000342316.4	37	c.568G>T	CCDS2225.1	.	.	.	.	.	.	.	.	.	.	G	38	6.759012	0.97817	.	.	ENSG00000178662	ENST00000421875;ENST00000431452;ENST00000314499;ENST00000342316;ENST00000409420	.	.	.	5.77	5.77	0.91146	.	0.118657	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-19.424	19.3504	0.94381	0.0:0.0:1.0:0.0	.	.	.	.	X	190;197;190;190;222	.	ENSP00000318258:G190X	G	+	1	0	CSRNP3	166241227	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.813000	0.99286	2.885000	0.99019	0.655000	0.94253	GGA		0.493	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2	NM_024969		71	108	1	0	6.00099e-30	1	8.68263e-30	71	108				
CELF2	10659	broad.mit.edu	37	10	11330515	11330515	+	Splice_Site	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr10:11330515G>T	ENST00000379261.4	+	9	1047	c.955G>T	c.(955-957)Gtg>Ttg	p.V319L	CELF2_ENST00000354440.2_Splice_Site_p.V295L|CELF2_ENST00000537122.1_Splice_Site_p.V208L|CELF2_ENST00000608830.1_Splice_Site_p.V295L|CELF2_ENST00000427450.1_Splice_Site_p.V295L|CELF2_ENST00000542579.1_Splice_Site_p.V326L|CELF2_ENST00000417956.2_Splice_Site_p.V295L|CELF2_ENST00000315874.4_Splice_Site_p.V295L|CELF2_ENST00000399850.3_Splice_Site_p.V295L|CELF2_ENST00000450189.1_Splice_Site_p.V326L|CELF2_ENST00000609692.1_Splice_Site_p.V295L|CELF2_ENST00000416382.2_Splice_Site_p.V319L|CELF2_ENST00000354897.3_Splice_Site_p.V295L	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	319	Ala-rich.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						CACGAGTCCCGGTGAGTGTGG	0.652																																						ENST00000379261.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						c.e9+1		CUGBP, Elav-like family member 2							24.0	27.0	26.0					10																	11330515		2046	4190	6236	SO:0001630	splice_region_variant	10659				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr10:11330515G>T	U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740		"""RNA binding motif (RRM) containing"""	2550	protein-coding gene	gene with protein product		602538	"""CUG triplet repeat, RNA-binding protein 2"", ""CUG triplet repeat, RNA binding protein 2"""	CUGBP2		7869393, 9887331	Standard	NM_006561		Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000379261.4:c.955+1G>T	10.37:g.11330515G>T						CELF2_ENST00000399850.3_Splice_Site_p.V295_splice|CELF2_ENST00000427450.1_Splice_Site_p.V295_splice|CELF2_ENST00000354440.2_Splice_Site_p.V295_splice|CELF2_ENST00000537122.1_Splice_Site_p.V208_splice|CELF2_ENST00000542579.1_Splice_Site_p.V326_splice|CELF2_ENST00000354897.3_Splice_Site_p.V295_splice|CELF2_ENST00000417956.2_Splice_Site_p.V295_splice|CELF2_ENST00000416382.2_Splice_Site_p.V319_splice|CELF2_ENST00000315874.3_Splice_Site_p.V295_splice|CELF2_ENST00000450189.1_Splice_Site_p.V326_splice	p.V319_splice	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN			9	1047	+			319			Ala-rich.		B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Splice_Site	SNP	ENST00000379261.4	37	c.955_splice	CCDS44354.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.897665	0.33535	.	.	ENSG00000048740	ENST00000379261;ENST00000416382;ENST00000450189;ENST00000542579;ENST00000399850;ENST00000417956;ENST00000315874;ENST00000354440;ENST00000354897;ENST00000427450;ENST00000537122;ENST00000538632	T;T;T;T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84	4.72	4.72	0.59763	.	0.209202	0.29964	N	0.010748	T	0.32971	0.0847	N	0.22421	0.69	0.80722	D	1	B;B;P;B;B;B;B	0.47034	0.069;0.022;0.889;0.103;0.049;0.09;0.069	B;B;B;B;B;B;B	0.39379	0.005;0.005;0.298;0.033;0.022;0.015;0.007	T	0.11542	-1.0583	10	0.11182	T	0.66	-15.8635	17.7042	0.88304	0.0:0.0:1.0:0.0	.	303;319;91;314;326;314;319	B4DDE7;B4DS31;B4DMB0;B2RA86;E9PC62;O95319-3;O95319	.;.;.;.;.;.;CELF2_HUMAN	L	319;319;326;326;295;295;295;295;295;295;208;125	ENSP00000368563:V319L;ENSP00000406451:V319L;ENSP00000389951:V326L;ENSP00000443926:V326L;ENSP00000382743:V295L;ENSP00000404834:V295L;ENSP00000315328:V295L;ENSP00000346426:V295L;ENSP00000388530:V295L;ENSP00000438884:V208L	ENSP00000315328:V295L	V	+	1	0	CELF2	11370521	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	8.834000	0.92094	2.179000	0.69175	0.460000	0.39030	GTG		0.652	CELF2-201	KNOWN	basic|CCDS	protein_coding	protein_coding			Missense_Mutation	7	10	1	0	0.00198382	1	0.00210681	7	10				
OR4X2	119764	broad.mit.edu	37	11	48266803	48266803	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:48266803C>A	ENST00000302329.3	+	1	196	c.148C>A	c.(148-150)Ccc>Acc	p.P50T		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P50T(1)		breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						CCTTGGTTCCCCCATGTACTT	0.488																																						ENST00000302329.3																			1	Substitution - Missense(1)	p.P50T(1)	lung(1)	breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(148-150)Ccc>Acc		olfactory receptor, family 4, subfamily X, member 2							192.0	176.0	181.0					11																	48266803		2201	4298	6499	SO:0001583	missense	119764				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48266803C>A	AB065847	CCDS31486.1	11p11.2	2012-08-09			ENSG00000172208	ENSG00000172208		"""GPCR / Class A : Olfactory receptors"""	15184	protein-coding gene	gene with protein product							Standard	NM_001004727		Approved		uc001ngs.1	Q8NGF9	OTTHUMG00000165302	ENST00000302329.3:c.148C>A	11.37:g.48266803C>A	ENSP00000307751:p.Pro50Thr						p.P50T	NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN			1	196	+			50					B2RNK3|Q6IF73|Q96R63	Missense_Mutation	SNP	ENST00000302329.3	37	c.148C>A	CCDS31486.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.416296	0.83449	.	.	ENSG00000172208	ENST00000302329	T	0.02032	4.49	5.37	5.37	0.77165	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000053	T	0.23727	0.0574	H	0.97635	4.045	0.50171	D	0.999851	D	0.89917	1.0	D	0.91635	0.999	T	0.38499	-0.9658	10	0.87932	D	0	.	16.612	0.84885	0.0:1.0:0.0:0.0	.	50	Q8NGF9	OR4X2_HUMAN	T	50	ENSP00000307751:P50T	ENSP00000307751:P50T	P	+	1	0	OR4X2	48223379	1.000000	0.71417	0.999000	0.59377	0.960000	0.62799	5.650000	0.67944	2.496000	0.84212	0.650000	0.86243	CCC		0.488	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383376.2	NM_001004727		20	52	1	0	4.63292e-17	1	6.21233e-17	20	52				
IL12A-AS1	101928376	broad.mit.edu	37	3	159819840	159819840	+	RNA	SNP	T	T	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr3:159819840T>C	ENST00000497452.1	-	0	517									IL12A antisense RNA 1																		TTATGGGCCCTACGGTTCTTA	0.413																																						ENST00000497452.1																			0																																																			101928376							g.chr3:159819840T>C	AK097161		3q25.33	2013-09-02			ENSG00000244040	ENSG00000244040		"""Long non-coding RNAs"""	49094	non-coding RNA	RNA, long non-coding							Standard	NR_108088		Approved				OTTHUMG00000158951		3.37:g.159819840T>C														0	517	-									RNA	SNP	ENST00000497452.1	37																																																																																						0.413	IL12A-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000352647.1			14	54	0	0	0	1	0	14	54				
SNAPC4	6621	broad.mit.edu	37	9	139272616	139272616	+	Silent	SNP	C	C	A	rs538103543		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:139272616C>A	ENST00000298532.2	-	21	4031	c.3663G>T	c.(3661-3663)acG>acT	p.T1221T		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GGGACCCCGGCGTCCCCCTTG	0.706																																						ENST00000298532.2																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33						c.(3661-3663)acG>acT		small nuclear RNA activating complex, polypeptide 4, 190kDa							11.0	13.0	12.0					9																	139272616		2186	4282	6468	SO:0001819	synonymous_variant	6621				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:139272616C>A	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.3663G>T	9.37:g.139272616C>A							p.T1221T	NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)	21	4031	-		Myeloproliferative disorder(178;0.0511)	1221			Pro-rich.			Silent	SNP	ENST00000298532.2	37	c.3663G>T	CCDS6998.1																																																																																				0.706	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086		6	7	1	0	2.7689e-08	1	3.31145e-08	6	7				
HERC1	8925	broad.mit.edu	37	15	63970261	63970261	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr15:63970261T>C	ENST00000443617.2	-	37	6940	c.6853A>G	c.(6853-6855)Agg>Ggg	p.R2285G	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2285					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AGGCCATGCCTAGTATGTTTA	0.512																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(6853-6855)Agg>Ggg		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							156.0	163.0	161.0					15																	63970261		2053	4182	6235	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63970261T>C	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.6853A>G	15.37:g.63970261T>C	ENSP00000390158:p.Arg2285Gly					RP11-317G6.1_ENST00000559303.2_RNA	p.R2285G	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			37	6940	-			2285					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.6853A>G	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	T	13.03	2.115067	0.37339	.	.	ENSG00000103657	ENST00000443617	T	0.24908	1.83	5.74	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.22975	0.0555	L	0.40543	1.245	0.47153	D	0.999332	B	0.25105	0.118	B	0.22386	0.039	T	0.02352	-1.1172	10	0.56958	D	0.05	.	13.0978	0.59202	0.0:0.0:0.3426:0.6574	.	2285	Q15751	HERC1_HUMAN	G	2285	ENSP00000390158:R2285G	ENSP00000390158:R2285G	R	-	1	2	HERC1	61757314	0.999000	0.42202	0.599000	0.28851	0.926000	0.56050	1.993000	0.40747	0.957000	0.37930	0.533000	0.62120	AGG		0.512	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		3	29	0	0	0	1	0	3	29				
LRRC37A4P	55073	broad.mit.edu	37	17	43587657	43587657	+	RNA	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:43587657C>T	ENST00000579913.1	-	0	1396				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GGTGACAACACATCTGTTTTA	0.323																																						ENST00000253803.2																			0																																																			100294341							g.chr17:43587657C>T	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587657C>T						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.323	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		4	118	0	0	0	1	0	4	118				
CRB1	23418	broad.mit.edu	37	1	197391036	197391036	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:197391036G>A	ENST00000367400.3	+	6	2213	c.2078G>A	c.(2077-2079)aGt>aAt	p.S693N	CRB1_ENST00000367397.1_Missense_Mutation_p.S74N|CRB1_ENST00000535699.1_Missense_Mutation_p.S624N|CRB1_ENST00000543483.1_3'UTR|CRB1_ENST00000367399.2_Missense_Mutation_p.S581N|CRB1_ENST00000538660.1_Missense_Mutation_p.S693N|CRB1_ENST00000544212.1_Missense_Mutation_p.S174N	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	693	EGF-like 12. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TTGTGGCTGAGTTACCAGTGT	0.517																																						ENST00000367397.1																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						c.(220-222)aGt>aAt		crumbs homolog 1 (Drosophila)							67.0	67.0	67.0					1																	197391036		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197391036G>A		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.2078G>A	1.37:g.197391036G>A	ENSP00000356370:p.Ser693Asn					CRB1_ENST00000544212.1_Missense_Mutation_p.S174N|CRB1_ENST00000367400.3_Missense_Mutation_p.S693N|CRB1_ENST00000535699.1_Missense_Mutation_p.S624N|CRB1_ENST00000367399.2_Missense_Mutation_p.S581N|CRB1_ENST00000538660.1_Missense_Mutation_p.S693N|CRB1_ENST00000543483.1_3'UTR	p.S74N			P82279	CRUM1_HUMAN			2	1079	+			693			EGF-like 2.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.221G>A	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	G	3.585	-0.084724	0.07097	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	D;D;D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07;-3.07;-3.07	5.41	4.47	0.54385	Concanavalin A-like lectin/glucanase, subgroup (1);EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.89125	0.6626	L	0.49640	1.575	0.38407	D	0.945839	B;B;B;B;B	0.20368	0.044;0.0;0.002;0.015;0.001	B;B;B;B;B	0.19946	0.015;0.004;0.004;0.027;0.006	D	0.86098	0.1554	9	0.37606	T	0.19	.	13.3156	0.60405	0.0793:0.0:0.9207:0.0	.	693;624;581;342;693	B7Z5T2;F5H0L2;P82279-3;P82279-4;P82279	.;.;.;.;CRUM1_HUMAN	N	624;693;693;581;174;74;342	ENSP00000438786:S624N;ENSP00000438091:S693N;ENSP00000356370:S693N;ENSP00000356369:S581N;ENSP00000444556:S174N;ENSP00000356367:S74N	ENSP00000356367:S74N	S	+	2	0	CRB1	195657659	1.000000	0.71417	0.012000	0.15200	0.002000	0.02628	3.746000	0.55127	1.215000	0.43411	0.650000	0.86243	AGT		0.517	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		25	20	0	0	0	1	0	25	20				
SNAP91	9892	broad.mit.edu	37	6	84371301	84371301	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:84371301T>C	ENST00000439399.2	-	5	688	c.372A>G	c.(370-372)atA>atG	p.I124M	SNAP91_ENST00000521485.1_Missense_Mutation_p.I124M|SNAP91_ENST00000195649.6_Missense_Mutation_p.I124M|SNAP91_ENST00000520213.1_Missense_Mutation_p.I124M|SNAP91_ENST00000520302.1_Missense_Mutation_p.I124M|SNAP91_ENST00000428679.2_Missense_Mutation_p.I124M|SNAP91_ENST00000437520.1_Missense_Mutation_p.I124M|SNAP91_ENST00000521743.1_Missense_Mutation_p.I124M|SNAP91_ENST00000369694.2_Missense_Mutation_p.I124M	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	124	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TATAGCGCCTTATGAAGGTAG	0.328																																						ENST00000428679.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(370-372)atA>atG		synaptosomal-associated protein, 91kDa							53.0	51.0	51.0					6																	84371301		1802	4073	5875	SO:0001583	missense	9892				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	g.chr6:84371301T>C	AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"""synaptosomal-associated protein, 91 kDa (mouse) homolog"", ""synaptosomal-associated protein, 91kDa homolog (mouse)"""			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.372A>G	6.37:g.84371301T>C	ENSP00000400459:p.Ile124Met					SNAP91_ENST00000521485.1_Missense_Mutation_p.I124M|SNAP91_ENST00000521743.1_Missense_Mutation_p.I124M|SNAP91_ENST00000439399.2_Missense_Mutation_p.I124M|SNAP91_ENST00000195649.6_Missense_Mutation_p.I124M|SNAP91_ENST00000520302.1_Missense_Mutation_p.I124M|SNAP91_ENST00000437520.1_Missense_Mutation_p.I124M|SNAP91_ENST00000369694.2_Missense_Mutation_p.I124M|SNAP91_ENST00000520213.1_Missense_Mutation_p.I124M	p.I124M			O60641	AP180_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0967)	5	965	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)	124			ENTH.		A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	ENST00000439399.2	37	c.372A>G	CCDS47455.1	.	.	.	.	.	.	.	.	.	.	T	17.84	3.488209	0.64074	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000437520;ENST00000520302;ENST00000521743;ENST00000520213;ENST00000521931;ENST00000519779;ENST00000518309;ENST00000369690	T;T;T;T;T;T;T;T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09	5.13	5.13	0.70059	ENTH/VHS (2);ANTH (1);Epsin-like, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.59238	0.2179	M	0.87900	2.915	0.49915	D	0.999838	D;D;D;D	0.71674	0.993;0.997;0.998;0.997	D;D;D;D	0.72982	0.911;0.979;0.975;0.979	T	0.67906	-0.5549	10	0.87932	D	0	-16.0714	10.9186	0.47150	0.0:0.0:0.289:0.711	.	124;124;124;124	O60641-3;E5RI02;O60641;E1P549	.;.;AP180_HUMAN;.	M	124	ENSP00000429776:I124M;ENSP00000358708:I124M;ENSP00000400459:I124M;ENSP00000195649:I124M;ENSP00000412492:I124M;ENSP00000413277:I124M;ENSP00000428511:I124M;ENSP00000428215:I124M;ENSP00000428026:I124M;ENSP00000430071:I124M;ENSP00000429429:I124M;ENSP00000430441:I124M;ENSP00000358704:I124M	ENSP00000195649:I124M	I	-	3	3	SNAP91	84428020	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.729000	0.38115	2.056000	0.61249	0.460000	0.39030	ATA		0.328	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1			13	31	0	0	0	1	0	13	31				
SPATA31A3	727830	broad.mit.edu	37	9	40704232	40704232	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:40704232C>A	ENST00000356699.5	+	4	1918	c.1889C>A	c.(1888-1890)tCa>tAa	p.S630*	RP11-395E19.5_ENST00000432614.1_lincRNA	NM_001083124.1	NP_001076593.1	Q5VYP0	S31A3_HUMAN	SPATA31 subfamily A, member 3	630					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CAGGACGAATCACCAGGGACA	0.527																																						ENST00000356699.5																			0											c.(1888-1890)tCa>tAa		SPATA31 subfamily A, member 3							13.0	11.0	12.0					9																	40704232		1404	2676	4080	SO:0001587	stop_gained	727830							g.chr9:40704232C>A			9p12	2012-10-15	2012-10-12	2012-10-12	ENSG00000147926				32003	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A3"""	FAM75A3		20850414	Standard	NM_001083124		Approved	OTTHUMG00000013164, DKFZp434B204	uc010mmj.3	Q5VYP0	OTTHUMG00000013164	ENST00000356699.5:c.1889C>A	9.37:g.40704232C>A	ENSP00000349132:p.Ser630*						p.S630*	NM_001083124.1	NP_001076593.1					4	1918	+									Nonsense_Mutation	SNP	ENST00000356699.5	37	c.1889C>A	CCDS47969.1	.	.	.	.	.	.	.	.	.	.	C	18.93	3.727472	0.69074	.	.	ENSG00000147926	ENST00000356699	.	.	.	2.69	1.52	0.23074	.	0.685025	0.12058	N	0.503408	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-0.32	4.4167	0.11459	0.0:0.1667:0.0:0.8333	.	.	.	.	X	630	.	ENSP00000349132:S630X	S	+	2	0	FAM75A3	40694232	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.185000	0.16958	0.459000	0.27016	-0.506000	0.04501	TCA		0.527	SPATA31A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036919.1	NM_001083124		36	12	1	0	5.43694e-19	1	7.44076e-19	36	12				
PDE1C	5137	broad.mit.edu	37	7	31904566	31904566	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:31904566G>T	ENST00000396191.1	-	7	1195	c.740C>A	c.(739-741)aCa>aAa	p.T247K	PDE1C_ENST00000321453.7_Missense_Mutation_p.T247K|PDE1C_ENST00000396182.2_Missense_Mutation_p.T247K|PDE1C_ENST00000396184.3_Missense_Mutation_p.T247K|PDE1C_ENST00000396193.1_Missense_Mutation_p.T307K	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	247	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	CGCCACTCCTGTCTTATAGAG	0.463																																						ENST00000396184.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81						c.(739-741)aCa>aAa		phosphodiesterase 1C, calmodulin-dependent 70kDa							164.0	147.0	153.0					7																	31904566		2203	4300	6503	SO:0001583	missense	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31904566G>T	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.740C>A	7.37:g.31904566G>T	ENSP00000379494:p.Thr247Lys					PDE1C_ENST00000396182.2_Missense_Mutation_p.T247K|PDE1C_ENST00000396193.1_Missense_Mutation_p.T307K|PDE1C_ENST00000321453.7_Missense_Mutation_p.T247K|PDE1C_ENST00000396191.1_Missense_Mutation_p.T247K	p.T247K	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		8	944	-			247			Catalytic (By similarity).		B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396191.1	37	c.740C>A	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	G	32	5.117125	0.94385	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08	5.88	5.88	0.94601	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.045939	0.85682	D	0.000000	D	0.87394	0.6166	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.985;0.991;0.98	D	0.87361	0.2344	10	0.72032	D	0.01	.	19.8116	0.96549	0.0:0.0:1.0:0.0	.	247;307;247	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	K	307;247;247;247;247	ENSP00000379496:T307K;ENSP00000379494:T247K;ENSP00000318105:T247K;ENSP00000379487:T247K;ENSP00000379485:T247K	ENSP00000318105:T247K	T	-	2	0	PDE1C	31871091	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.663000	0.74431	2.781000	0.95711	0.591000	0.81541	ACA		0.463	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			26	45	1	0	9.86323e-18	1	1.33267e-17	26	45				
RNF111	54778	broad.mit.edu	37	15	59323323	59323323	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr15:59323323G>T	ENST00000557998.1	+	2	589	c.302G>T	c.(301-303)gGc>gTc	p.G101V	RNF111_ENST00000348370.4_Missense_Mutation_p.G101V|RNF111_ENST00000434298.1_Missense_Mutation_p.G101V|RNF111_ENST00000559209.1_Missense_Mutation_p.G101V|RNF111_ENST00000561186.1_Missense_Mutation_p.G101V	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	101					gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		CAGCAGGCTGGCCCTTCGTAT	0.413																																					NSCLC(72;983 1365 10746 34387 47081)	ENST00000348370.4																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(301-303)gGc>gTc		ring finger protein 111							113.0	110.0	111.0					15																	59323323		2192	4291	6483	SO:0001583	missense	54778				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:59323323G>T	AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.302G>T	15.37:g.59323323G>T	ENSP00000452732:p.Gly101Val					RNF111_ENST00000559209.1_Missense_Mutation_p.G101V|RNF111_ENST00000434298.1_Missense_Mutation_p.G101V|RNF111_ENST00000557998.1_Missense_Mutation_p.G101V|RNF111_ENST00000561186.1_Missense_Mutation_p.G101V	p.G101V	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN		all cancers(107;0.194)	2	735	+			101					C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Missense_Mutation	SNP	ENST00000557998.1	37	c.302G>T	CCDS58366.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.209662	0.79240	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	T;T	0.37584	1.19;1.2	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.58323	0.2114	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.58487	-0.7628	10	0.87932	D	0	-6.4038	18.8612	0.92273	0.0:0.0:1.0:0.0	.	101;101;101	Q6ZNA4-3;Q6ZNA4;Q6ZNA4-2	.;RN111_HUMAN;.	V	101	ENSP00000288199:G101V;ENSP00000393641:G101V	ENSP00000288199:G101V	G	+	2	0	RNF111	57110615	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	8.991000	0.93514	2.690000	0.91761	0.591000	0.81541	GGC		0.413	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	NM_017610		32	15	1	0	1.39806e-14	1	1.8421e-14	32	15				
NEK5	341676	broad.mit.edu	37	13	52646088	52646088	+	Missense_Mutation	SNP	G	G	A	rs375739928		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr13:52646088G>A	ENST00000355568.4	-	21	2055	c.1916C>T	c.(1915-1917)cCa>cTa	p.P639L		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	639					positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		ACCTGCTTCTGGGCAGTGAAG	0.403																																						ENST00000355568.4																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39						c.(1915-1917)cCa>cTa		NIMA-related kinase 5		G	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	128.0	122.0	124.0		1916	3.5	0.9	13		124	0,8596		0,0,4298	no	missense	NEK5	NM_199289.1	98	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	benign	639/709	52646088	1,13001	2203	4298	6501	SO:0001583	missense	341676						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr13:52646088G>A	BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)-related kinase 5"""			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.1916C>T	13.37:g.52646088G>A	ENSP00000347767:p.Pro639Leu						p.P639L	NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN		GBM - Glioblastoma multiforme(99;3.7e-08)	21	2055	-		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	639					Q5TAP5	Missense_Mutation	SNP	ENST00000355568.4	37	c.1916C>T	CCDS31979.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.261112	0.23051	2.27E-4	0.0	ENSG00000197168	ENST00000355568	T	0.70282	-0.47	5.27	3.55	0.40652	.	1.410070	0.04526	N	0.385555	T	0.68997	0.3062	L	0.56769	1.78	0.33798	D	0.626365	B	0.14805	0.011	B	0.14023	0.01	T	0.60505	-0.7250	10	0.72032	D	0.01	.	7.4459	0.27211	0.0902:0.1675:0.7423:0.0	.	639	Q6P3R8	NEK5_HUMAN	L	639	ENSP00000347767:P639L	ENSP00000347767:P639L	P	-	2	0	NEK5	51544089	0.992000	0.36948	0.932000	0.37286	0.291000	0.27294	1.567000	0.36407	0.621000	0.30232	0.557000	0.71058	CCA		0.403	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	NM_199289		24	5	0	0	0	1	0	24	5				
SAMD8	142891	broad.mit.edu	37	10	76868851	76868851	+	5'Flank	SNP	A	A	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr10:76868851A>G	ENST00000542569.1	+	0	0				SAMD8_ENST00000372687.4_5'Flank|SAMD8_ENST00000372690.3_5'Flank|DUSP13_ENST00000607131.1_5'UTR|DUSP13_ENST00000372700.3_Missense_Mutation_p.L22P|DUSP13_ENST00000491677.2_5'UTR|DUSP13_ENST00000372702.3_Missense_Mutation_p.L22P|DUSP13_ENST00000607009.1_5'UTR	NM_001174156.1|NM_144660.2	NP_001167627.1|NP_653261.1	Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8						ceramide biosynthetic process (GO:0046513)|regulation of ceramide biosynthetic process (GO:2000303)|sphingomyelin biosynthetic process (GO:0006686)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CTCCAGCTCCAGGATGCTGGG	0.632																																						ENST00000372702.3																			0				large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8						c.(64-66)cTg>cCg		dual specificity phosphatase 13							69.0	60.0	63.0					10																	76868851		2203	4300	6503	SO:0001631	upstream_gene_variant	51207					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:76868851A>G	AK057811	CCDS7347.1, CCDS53543.1	10q22.3	2013-01-10			ENSG00000156671	ENSG00000156671		"""Sterile alpha motif (SAM) domain containing"""	26320	protein-coding gene	gene with protein product		611575					Standard	NM_144660		Approved	FLJ25082	uc001jwx.2	Q96LT4	OTTHUMG00000018515		10.37:g.76868851A>G	Exception_encountered					DUSP13_ENST00000607131.1_5'UTR|DUSP13_ENST00000491677.2_5'UTR|DUSP13_ENST00000607009.1_5'UTR|DUSP13_ENST00000372700.3_Missense_Mutation_p.L22P	p.L22P			Q6B8I1	MDSP_HUMAN			1	128	-	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		22					Q5JSC5|Q5JSC8|Q66K52	Missense_Mutation	SNP	ENST00000542569.1	37	c.65T>C	CCDS53543.1	.	.	.	.	.	.	.	.	.	.	A	8.925	0.962053	0.18583	.	.	ENSG00000079393	ENST00000372702;ENST00000372700	T;T	0.60797	0.16;3.34	5.91	2.0	0.26442	.	.	.	.	.	T	0.44477	0.1295	L	0.50333	1.59	0.09310	N	0.999993	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.28839	-1.0031	9	0.30854	T	0.27	.	2.6579	0.05017	0.5071:0.0:0.2154:0.2775	.	22;22	Q9UII6-4;Q6B8I1	.;MDSP_HUMAN	P	22	ENSP00000361787:L22P;ENSP00000361785:L22P	ENSP00000361785:L22P	L	-	2	0	DUSP13	76538857	0.730000	0.28100	0.134000	0.22075	0.418000	0.31294	1.402000	0.34600	1.024000	0.39682	-0.417000	0.06048	CTG		0.632	SAMD8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_144660		17	13	0	0	0	1	0	17	13				
ODAM	54959	broad.mit.edu	37	4	71068474	71068474	+	Splice_Site	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:71068474C>T	ENST00000396094.2	+	9	698	c.650C>T	c.(649-651)tCa>tTa	p.S217L		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	217					biomineral tissue development (GO:0031214)|odontogenesis of dentin-containing tooth (GO:0042475)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|fibril (GO:0043205)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						TCTCTGTAGTCAACAGGAGAA	0.388																																						ENST00000396094.2																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						c.e9-1		odontogenic, ameloblast asssociated							55.0	51.0	52.0					4																	71068474		2201	4298	6499	SO:0001630	splice_region_variant	54959				biomineral tissue development|odontogenesis of dentine-containing tooth	fibril		g.chr4:71068474C>T	AK000520	CCDS3536.2	4q13.3	2010-11-23			ENSG00000109205	ENSG00000109205			26043	protein-coding gene	gene with protein product		614843				14647039	Standard	NM_017855		Approved	APin, FLJ20513	uc003hfc.3	A1E959	OTTHUMG00000129406	ENST00000396094.2:c.649-1C>T	4.37:g.71068474C>T							p.S217_splice	NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN			9	698	+			217					Q8WWE5|Q9NWZ9	Splice_Site	SNP	ENST00000396094.2	37	c.648_splice	CCDS3536.2	.	.	.	.	.	.	.	.	.	.	C	10.09	1.253779	0.22965	.	.	ENSG00000109205	ENST00000396094;ENST00000510709;ENST00000514097	T;T	0.45276	0.9;0.9	4.95	4.11	0.48088	.	0.256847	0.28327	N	0.015749	T	0.25680	0.0625	N	0.14661	0.345	0.24836	N	0.992494	B	0.02656	0.0	B	0.01281	0.0	T	0.20638	-1.0269	10	0.72032	D	0.01	-5.1186	9.4922	0.38967	0.0:0.9041:0.0:0.0959	.	217	A1E959	ODAM_HUMAN	L	217;203;154	ENSP00000379401:S217L;ENSP00000426106:S154L	ENSP00000379401:S217L	S	+	2	0	ODAM	71103063	1.000000	0.71417	1.000000	0.80357	0.008000	0.06430	1.955000	0.40372	1.450000	0.47717	0.655000	0.94253	TCA		0.388	ODAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251562.1	NM_017855	Missense_Mutation	5	8	0	0	0	1	0	5	8				
FA2H	79152	broad.mit.edu	37	16	74761162	74761162	+	Missense_Mutation	SNP	C	C	A	rs371859188		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr16:74761162C>A	ENST00000219368.3	-	3	555	c.486G>T	c.(484-486)gaG>gaT	p.E162D	FA2H_ENST00000544337.1_Intron	NM_024306.4	NP_077282.3	Q7L5A8	FA2H_HUMAN	fatty acid 2-hydroxylase	162					cell death (GO:0008219)|central nervous system myelin maintenance (GO:0032286)|fatty acid biosynthetic process (GO:0006633)|lipid modification (GO:0030258)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of cell proliferation (GO:0042127)|regulation of hair cycle (GO:0042634)|sebaceous gland cell differentiation (GO:0001949)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	fatty acid alpha-hydroxylase activity (GO:0080132)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						TAGAGAGGCCCTCAATGAGGT	0.587																																						ENST00000219368.3																			0				endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						c.(484-486)gaG>gaT		fatty acid 2-hydroxylase							59.0	55.0	56.0					16																	74761162		2198	4300	6498	SO:0001583	missense	79152				cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity	g.chr16:74761162C>A	BC002679	CCDS10911.1	16q23	2013-03-04	2003-10-29	2003-10-31	ENSG00000103089	ENSG00000103089		"""Fatty acid hydroxylase domain containing"""	21197	protein-coding gene	gene with protein product	"""fatty acid hydroxylase"""	611026	"""fatty acid hydroxylase domain containing 1"", ""spastic paraplegia 35 (autosomal recessive)"""	FAXDC1, SPG35		20104589	Standard	NM_024306		Approved	FAAH, FLJ25287	uc002fde.2	Q7L5A8	OTTHUMG00000137603	ENST00000219368.3:c.486G>T	16.37:g.74761162C>A	ENSP00000219368:p.Glu162Asp					FA2H_ENST00000544337.1_Intron	p.E162D	NM_024306.4	NP_077282.3	Q7L5A8	FA2H_HUMAN			3	555	-			162					B7Z8T6|O75213|Q96DK1|Q9H1A5	Missense_Mutation	SNP	ENST00000219368.3	37	c.486G>T	CCDS10911.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.269354	0.59540	.	.	ENSG00000103089	ENST00000219368	D	0.95821	-3.82	5.32	1.14	0.20703	.	0.000000	0.85682	D	0.000000	D	0.97445	0.9164	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.96504	0.9373	10	0.52906	T	0.07	3.2116	10.293	0.43608	0.0:0.7298:0.0:0.2702	.	162	Q7L5A8	FA2H_HUMAN	D	162	ENSP00000219368:E162D	ENSP00000219368:E162D	E	-	3	2	FA2H	73318663	0.597000	0.26874	0.708000	0.30435	0.430000	0.31655	0.723000	0.25939	0.626000	0.30322	0.563000	0.77884	GAG		0.587	FA2H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269015.2	NM_024306		9	17	1	0	0.00448238	1	0.0047319	9	17				
ELAC1	55520	broad.mit.edu	37	18	48510764	48510764	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr18:48510764A>T	ENST00000269466.3	+	3	563	c.456A>T	c.(454-456)caA>caT	p.Q152H	SMAD4_ENST00000452201.2_Intron|ELAC1_ENST00000591429.1_Missense_Mutation_p.Q152H|ELAC1_ENST00000588577.1_Intron|RP11-729L2.2_ENST00000590722.2_Intron|RP11-729L2.2_ENST00000588256.1_Intron	NM_018696.2	NP_061166.1	Q9H777	RNZ1_HUMAN	elaC ribonuclease Z 1	152					tRNA 3'-trailer cleavage (GO:0042779)	cytosol (GO:0005829)|nucleus (GO:0005634)	endoribonuclease activity, producing 5'-phosphomonoesters (GO:0016891)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(4)|prostate(1)	6		Colorectal(6;0.0269)|all_epithelial(6;0.0729)		Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18)		AAGAGGAACAAGGAAGAACTA	0.403																																						ENST00000269466.3																			0				kidney(1)|large_intestine(4)|prostate(1)	6						c.(454-456)caA>caT		elaC ribonuclease Z 1							83.0	77.0	79.0					18																	48510764		2203	4300	6503	SO:0001583	missense	55520				tRNA 3'-trailer cleavage	nucleus	endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr18:48510764A>T	AB029151	CCDS11949.1	18q21	2013-05-24	2013-05-24		ENSG00000141642	ENSG00000141642	3.1.26.11		14197	protein-coding gene	gene with protein product	"""tRNA Z (short form)"", ""RNaseZ(S)"""	608079	"""elaC (E. coli) homolog 1"", ""elaC homolog 1 (E. coli)"""			12711671, 21559454	Standard	NM_018696		Approved	D29	uc002lez.3	Q9H777	OTTHUMG00000132695	ENST00000269466.3:c.456A>T	18.37:g.48510764A>T	ENSP00000269466:p.Gln152His					ELAC1_ENST00000588577.1_Intron|RP11-729L2.2_ENST00000588256.1_Intron|RP11-729L2.2_ENST00000590722.2_Intron|ELAC1_ENST00000591429.1_Missense_Mutation_p.Q152H|SMAD4_ENST00000452201.2_Intron	p.Q152H	NM_018696.2	NP_061166.1	Q9H777	RNZ1_HUMAN		Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18)	3	563	+		Colorectal(6;0.0269)|all_epithelial(6;0.0729)	152					Q9NS99	Missense_Mutation	SNP	ENST00000269466.3	37	c.456A>T	CCDS11949.1	.	.	.	.	.	.	.	.	.	.	A	14.43	2.534023	0.45073	.	.	ENSG00000141642	ENST00000269466	T	0.77098	-1.07	5.95	4.79	0.61399	Beta-lactamase-like (1);	0.152685	0.64402	D	0.000011	T	0.74642	0.3743	L	0.35414	1.06	0.80722	D	1	B;B	0.33000	0.393;0.393	P;P	0.44359	0.447;0.447	T	0.72653	-0.4228	10	0.45353	T	0.12	.	11.3558	0.49615	0.9281:0.0:0.0719:0.0	.	152;152	Q53EY2;Q9H777	.;RNZ1_HUMAN	H	152	ENSP00000269466:Q152H	ENSP00000269466:Q152H	Q	+	3	2	ELAC1	46764762	1.000000	0.71417	0.985000	0.45067	0.877000	0.50540	1.769000	0.38522	1.073000	0.40885	0.528000	0.53228	CAA		0.403	ELAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255992.2			17	11	0	0	0	1	0	17	11				
GPR1	2825	broad.mit.edu	37	2	207041089	207041089	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:207041089G>C	ENST00000407325.2	-	3	1245	c.883C>G	c.(883-885)Ctc>Gtc	p.L295V	GPR1_ENST00000437420.1_Missense_Mutation_p.L295V	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	295					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		CAACTATTGAGGAATGCCAAA	0.468																																						ENST00000407325.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18						c.(883-885)Ctc>Gtc		G protein-coupled receptor 1							115.0	109.0	111.0					2																	207041089		2203	4300	6503	SO:0001583	missense	2825					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:207041089G>C		CCDS2368.1	2q33.3	2014-01-30			ENSG00000183671	ENSG00000183671		"""GPCR / Class A : Orphans"""	4463	protein-coding gene	gene with protein product		600239				7851889	Standard	NM_005279		Approved		uc031rqv.1	P46091	OTTHUMG00000132894	ENST00000407325.2:c.883C>G	2.37:g.207041089G>C	ENSP00000384345:p.Leu295Val					GPR1_ENST00000437420.1_Missense_Mutation_p.L295V	p.L295V	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)	3	1245	-		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)	295					A5JUU6|A8K4L1|Q53TR9|Q6NVX4	Missense_Mutation	SNP	ENST00000407325.2	37	c.883C>G	CCDS2368.1	.	.	.	.	.	.	.	.	.	.	G	1.634	-0.518252	0.04171	.	.	ENSG00000183671	ENST00000407325;ENST00000437420	T;T	0.38887	1.11;1.11	5.7	4.64	0.57946	GPCR, rhodopsin-like superfamily (1);	0.189246	0.46442	D	0.000282	T	0.25044	0.0608	N	0.17631	0.505	0.33422	D	0.579965	B	0.29612	0.251	B	0.26202	0.067	T	0.28490	-1.0042	10	0.42905	T	0.14	.	7.7891	0.29110	0.089:0.0:0.6423:0.2686	.	295	P46091	GPR1_HUMAN	V	295	ENSP00000384345:L295V;ENSP00000397535:L295V	ENSP00000384345:L295V	L	-	1	0	GPR1	206749334	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.997000	0.49457	2.696000	0.92011	0.655000	0.94253	CTC		0.468	GPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256394.2	NM_001098199		8	25	0	0	0	1	0	8	25				
HERC2	8924	broad.mit.edu	37	15	28408273	28408273	+	Silent	SNP	C	C	A	rs142209264	byFrequency	TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr15:28408273C>A	ENST00000261609.7	-	69	10821	c.10713G>T	c.(10711-10713)gcG>gcT	p.A3571A		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CGGAAAGCACCGCGGAGAGCA	0.647																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(10711-10713)gcG>gcT		HECT and RLD domain containing E3 ubiquitin protein ligase 2							84.0	81.0	82.0					15																	28408273		2203	4300	6503	SO:0001819	synonymous_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28408273C>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.10713G>T	15.37:g.28408273C>A							p.A3571A	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	69	10821	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	3571						Silent	SNP	ENST00000261609.7	37	c.10713G>T	CCDS10021.1																																																																																				0.647	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		4	54	1	0	0.150653	1	0.153251	4	54				
POC1B	282809	broad.mit.edu	37	12	89819073	89819073	+	Silent	SNP	T	T	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:89819073T>C	ENST00000313546.3	-	11	1325	c.1197A>G	c.(1195-1197)ccA>ccG	p.P399P	POC1B_ENST00000393179.4_Silent_p.P269P|POC1B_ENST00000549504.1_3'UTR|POC1B_ENST00000546740.1_5'UTR|POC1B_ENST00000549035.1_Silent_p.P357P|POC1B_ENST00000541909.1_3'UTR|POC1B_ENST00000378528.2_3'UTR	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B	399					cell proliferation (GO:0008283)|cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						GCAAACATTCTGGTGACATTA	0.448																																						ENST00000393179.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						c.(805-807)ccA>ccG		POC1 centriolar protein B							211.0	176.0	188.0					12																	89819073		2203	4300	6503	SO:0001819	synonymous_variant	282809							g.chr12:89819073T>C	AL832918	CCDS31869.1, CCDS55859.1	12q21.33	2014-05-02	2013-08-21	2010-03-26	ENSG00000139323	ENSG00000139323		"""WD repeat domain containing"""	30836	protein-coding gene	gene with protein product		614784	"""WD repeat domain 51B"", ""POC1 centriolar protein homolog B (Chlamydomonas)"""	WDR51B		19109428	Standard	NM_172240		Approved	TUWD12, FLJ14923		Q8TC44	OTTHUMG00000169944	ENST00000313546.3:c.1197A>G	12.37:g.89819073T>C						POC1B_ENST00000549504.1_3'UTR|POC1B_ENST00000546740.1_5'UTR|POC1B_ENST00000313546.3_Silent_p.P399P|POC1B_ENST00000549035.1_Silent_p.P357P|POC1B_ENST00000541909.1_3'UTR|POC1B_ENST00000378528.2_3'UTR	p.P269P							9	1420	-								G3V1X0	Silent	SNP	ENST00000313546.3	37	c.807A>G	CCDS31869.1																																																																																				0.448	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406637.1	NM_172240		44	55	0	0	0	1	0	44	55				
HMGCLL1	54511	broad.mit.edu	37	6	55381332	55381332	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:55381332G>A	ENST00000398661.2	-	5	588	c.457C>T	c.(457-459)Cct>Tct	p.P153S	HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000370850.2_Intron|HMGCLL1_ENST00000428842.1_Intron|HMGCLL1_ENST00000308161.4_Intron|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.P123S	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	153					ketone body biosynthetic process (GO:0046951)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			TGAAGATTAGGAGTAAGGACA	0.333																																					Ovarian(35;840 893 7837 15538 42887)	ENST00000398661.2																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(457-459)Cct>Tct		3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1							129.0	131.0	131.0					6																	55381332		1860	4101	5961	SO:0001583	missense	54511						hydroxymethylglutaryl-CoA lyase activity|metal ion binding	g.chr6:55381332G>A	AK055075	CCDS43474.1, CCDS43475.1, CCDS75472.1, CCDS75473.1	6p12.1	2010-04-30	2010-04-30		ENSG00000146151	ENSG00000146151			21359	protein-coding gene	gene with protein product			"""3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1"""			8619474, 9110174	Standard	NM_001042406		Approved	DKFZP434G1411, bA418P12.1	uc003pcn.3	Q8TB92	OTTHUMG00000014902	ENST00000398661.2:c.457C>T	6.37:g.55381332G>A	ENSP00000381654:p.Pro153Ser					HMGCLL1_ENST00000308161.4_Intron|HMGCLL1_ENST00000428842.1_Intron|HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.P123S|HMGCLL1_ENST00000370850.2_Intron	p.P153S	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		5	588	-	Lung NSC(77;0.0875)		153					B1AQ42|B3KNV0|B7Z1S7|F8W793|Q6ZSA9	Missense_Mutation	SNP	ENST00000398661.2	37	c.457C>T	CCDS43475.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.726779	0.89390	.	.	ENSG00000146151	ENST00000274901;ENST00000398661	D;D	0.98264	-4.83;-4.83	4.88	4.88	0.63580	Aldolase-type TIM barrel (1);Pyruvate carboxyltransferase (2);	0.118029	0.64402	D	0.000017	D	0.99474	0.9813	H	0.98682	4.3	0.80722	D	1	D;D	0.63880	0.958;0.993	D;D	0.80764	0.974;0.994	D	0.98102	1.0415	10	0.87932	D	0	-26.3597	18.4072	0.90539	0.0:0.0:1.0:0.0	.	123;153	Q8TB92-2;Q8TB92	.;HMGC2_HUMAN	S	123;153	ENSP00000274901:P123S;ENSP00000381654:P153S	ENSP00000274901:P123S	P	-	1	0	HMGCLL1	55489291	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	9.779000	0.99018	2.437000	0.82529	0.313000	0.20887	CCT		0.333	HMGCLL1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360290.1	XM_166383		27	28	0	0	0	1	0	27	28				
SLITRK4	139065	broad.mit.edu	37	X	142718516	142718516	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chrX:142718516G>C	ENST00000381779.4	-	2	634	c.409C>G	c.(409-411)Cag>Gag	p.Q137E	SLITRK4_ENST00000338017.4_Missense_Mutation_p.Q137E|SLITRK4_ENST00000356928.1_Missense_Mutation_p.Q137E	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	137						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TAGTCAGCCTGGAGATACTCC	0.388																																						ENST00000381779.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60						c.(409-411)Cag>Gag		SLIT and NTRK-like family, member 4							82.0	82.0	82.0					X																	142718516		2203	4299	6502	SO:0001583	missense	139065					integral to membrane		g.chrX:142718516G>C	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.409C>G	X.37:g.142718516G>C	ENSP00000371198:p.Gln137Glu					SLITRK4_ENST00000338017.4_Missense_Mutation_p.Q137E|SLITRK4_ENST00000356928.1_Missense_Mutation_p.Q137E	p.Q137E	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN			2	634	-	Acute lymphoblastic leukemia(192;6.56e-05)		137					Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	c.409C>G	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.177124	0.57692	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.51325	0.71;0.71;0.71	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.55289	0.1911	N	0.17631	0.505	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59752	-0.7395	10	0.52906	T	0.07	-8.4522	16.593	0.84772	0.0:0.0:1.0:0.0	.	137	Q8IW52	SLIK4_HUMAN	E	137	ENSP00000371198:Q137E;ENSP00000349400:Q137E;ENSP00000336627:Q137E	ENSP00000336627:Q137E	Q	-	1	0	SLITRK4	142546182	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.231000	0.72958	0.600000	0.82982	CAG		0.388	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		49	16	0	0	0	1	0	49	16				
KHDRBS2	202559	broad.mit.edu	37	6	62442634	62442634	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:62442634G>C	ENST00000281156.4	-	7	1124	c.846C>G	c.(844-846)gaC>gaG	p.D282E		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	282					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)		CATAGGTCTGGTCATCATATT	0.378																																						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.(844-846)gaC>gaG		KH domain containing, RNA binding, signal transduction associated 2							181.0	171.0	174.0					6																	62442634		2203	4300	6503	SO:0001583	missense	202559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr6:62442634G>C	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.846C>G	6.37:g.62442634G>C	ENSP00000281156:p.Asp282Glu						p.D282E	NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.149)	7	1124	-			282					A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP	ENST00000281156.4	37	c.846C>G	CCDS4963.1	.	.	.	.	.	.	.	.	.	.	G	0.177	-1.065420	0.01934	.	.	ENSG00000112232	ENST00000281156	T	0.38401	1.14	5.72	2.9	0.33743	.	0.398889	0.29053	N	0.013281	T	0.03305	0.0096	N	0.04705	-0.18	0.29764	N	0.835346	B	0.09022	0.002	B	0.09377	0.004	T	0.42396	-0.9454	10	0.02654	T	1	0.2608	3.9851	0.09513	0.078:0.1418:0.4875:0.2926	.	282	Q5VWX1	KHDR2_HUMAN	E	282	ENSP00000281156:D282E	ENSP00000281156:D282E	D	-	3	2	KHDRBS2	62500593	0.997000	0.39634	0.998000	0.56505	0.387000	0.30353	0.180000	0.16860	0.322000	0.23283	0.644000	0.83932	GAC		0.378	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688		16	48	0	0	0	1	0	16	48				
BAIAP2	10458	broad.mit.edu	37	17	79080653	79080653	+	Silent	SNP	G	G	T	rs372574358		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:79080653G>T	ENST00000321300.6	+	12	1539	c.1446G>T	c.(1444-1446)acG>acT	p.T482T	BAIAP2_ENST00000416299.2_Silent_p.T345T|BAIAP2_ENST00000428708.2_Silent_p.T482T|BAIAP2_ENST00000321280.7_Silent_p.T482T|BAIAP2_ENST00000575245.1_Silent_p.T515T|BAIAP2_ENST00000392411.3_Silent_p.T404T|BAIAP2_ENST00000575712.1_Silent_p.T482T|BAIAP2_ENST00000435091.3_Silent_p.T482T	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	482					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of synaptic plasticity (GO:0048167)|response to bacterium (GO:0009617)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	cytoskeletal adaptor activity (GO:0008093)|identical protein binding (GO:0042802)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CCGCCCAGACGGCCAGCGGCT	0.716																																						ENST00000321300.6																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18						c.(1444-1446)acG>acT		BAI1-associated protein 2							25.0	25.0	25.0					17																	79080653		2196	4297	6493	SO:0001819	synonymous_variant	10458				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr17:79080653G>T	AB015019	CCDS11775.1, CCDS11776.1, CCDS11777.1, CCDS45806.1	17q25.3	2014-09-11			ENSG00000175866				947	protein-coding gene	gene with protein product		605475				10343108	Standard	NM_017451		Approved	BAP2	uc002jzg.2	Q9UQB8	OTTHUMG00000177698	ENST00000321300.6:c.1446G>T	17.37:g.79080653G>T						BAIAP2_ENST00000575712.1_Silent_p.T482T|BAIAP2_ENST00000428708.2_Silent_p.T482T|BAIAP2_ENST00000321280.7_Silent_p.T482T|BAIAP2_ENST00000416299.2_Silent_p.T345T|BAIAP2_ENST00000392411.3_Silent_p.T404T|BAIAP2_ENST00000435091.3_Silent_p.T482T|BAIAP2_ENST00000575245.1_Silent_p.T515T	p.T482T	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		12	1539	+	all_neural(118;0.101)		482					O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	Silent	SNP	ENST00000321300.6	37	c.1446G>T	CCDS11775.1																																																																																				0.716	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438553.1			6	21	1	0	3.59834e-05	1	4.00569e-05	6	21				
FBN1	2200	broad.mit.edu	37	15	48797310	48797310	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr15:48797310C>A	ENST00000316623.5	-	16	2327	c.1872G>T	c.(1870-1872)atG>atT	p.M624I		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	624	EGF-like 10; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AACGCCCATTCATGCAGATCC	0.443																																						ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(1870-1872)atG>atT		fibrillin 1							149.0	139.0	142.0					15																	48797310		2197	4296	6493	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48797310C>A	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.1872G>T	15.37:g.48797310C>A	ENSP00000325527:p.Met624Ile						p.M624I	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	16	2327	-		all_lung(180;0.00279)	624			EGF-like 10; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.1872G>T	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.189241	0.78789	.	.	ENSG00000166147	ENST00000316623	T	0.71103	-0.54	5.67	5.67	0.87782	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.69646	0.3134	N	0.10782	0.045	0.80722	D	1	P	0.45126	0.851	P	0.58391	0.838	T	0.71334	-0.4624	10	0.37606	T	0.19	.	18.3402	0.90303	0.0:1.0:0.0:0.0	.	624	P35555	FBN1_HUMAN	I	624	ENSP00000325527:M624I	ENSP00000325527:M624I	M	-	3	0	FBN1	46584602	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	6.037000	0.70956	2.684000	0.91462	0.650000	0.86243	ATG		0.443	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			5	52	1	0	0.000602214	1	0.00064732	5	52				
OR4C12	283093	broad.mit.edu	37	11	50003881	50003881	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:50003881G>T	ENST00000335238.4	-	1	190	c.157C>A	c.(157-159)Ctg>Atg	p.L53M		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	53						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						GGGGAGCTCAGAGCCTGGCTG	0.418																																						ENST00000335238.4																			0				NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(157-159)Ctg>Atg		olfactory receptor, family 4, subfamily C, member 12							66.0	68.0	67.0					11																	50003881		2201	4296	6497	SO:0001583	missense	283093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:50003881G>T	BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"""GPCR / Class A : Olfactory receptors"""	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.157C>A	11.37:g.50003881G>T	ENSP00000334418:p.Leu53Met						p.L53M	NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN			1	190	-			53					B2RNF0|Q6IF49	Missense_Mutation	SNP	ENST00000335238.4	37	c.157C>A	CCDS31496.1	.	.	.	.	.	.	.	.	.	.	.	11.43	1.636453	0.29068	.	.	ENSG00000221954	ENST00000335238	T	0.14391	2.51	3.31	2.38	0.29361	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33834	U	0.004509	T	0.33294	0.0858	H	0.98027	4.13	0.09310	N	1	P	0.40875	0.731	P	0.44732	0.459	T	0.39461	-0.9613	10	0.72032	D	0.01	.	5.4953	0.16799	0.2638:0.0:0.7362:0.0	.	53	Q96R67	OR4CC_HUMAN	M	53	ENSP00000334418:L53M	ENSP00000334418:L53M	L	-	1	2	OR4C12	49960457	1.000000	0.71417	0.017000	0.16124	0.984000	0.73092	5.686000	0.68211	0.740000	0.32651	0.398000	0.26397	CTG		0.418	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391104.1	NM_001005270		11	27	1	0	3.07112e-06	1	3.46971e-06	11	27				
SYCP1	6847	broad.mit.edu	37	1	115401315	115401315	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:115401315G>C	ENST00000369522.3	+	6	679	c.439G>C	c.(439-441)Gcc>Ccc	p.A147P	SYCP1_ENST00000369518.1_Missense_Mutation_p.A147P	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	147					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCGAAAAGCCATTCAGGA	0.313																																						ENST00000369522.3																		RGS22/SYCP1(2)	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(439-441)Gcc>Ccc		synaptonemal complex protein 1							117.0	122.0	120.0					1																	115401315		2203	4299	6502	SO:0001583	missense	6847				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	g.chr1:115401315G>C	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.439G>C	1.37:g.115401315G>C	ENSP00000358535:p.Ala147Pro					SYCP1_ENST00000369518.1_Missense_Mutation_p.A147P	p.A147P	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	679	+	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)	147					O14963|Q5VXJ6	Missense_Mutation	SNP	ENST00000369522.3	37	c.439G>C	CCDS879.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.346094	0.82022	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	T;T;T	0.57273	0.41;0.41;0.41	5.11	5.11	0.69529	.	0.056181	0.64402	D	0.000001	T	0.66509	0.2796	M	0.68952	2.095	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.69266	-0.5190	10	0.59425	D	0.04	-2.645	18.1352	0.89617	0.0:0.0:1.0:0.0	.	147;147	B7ZLS9;Q15431	.;SYCP1_HUMAN	P	147	ENSP00000358535:A147P;ENSP00000410011:A147P;ENSP00000358531:A147P	ENSP00000358531:A147P	A	+	1	0	SYCP1	115202838	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	8.772000	0.91757	2.375000	0.81037	0.563000	0.77884	GCC		0.313	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176		39	54	0	0	0	1	0	39	54				
COL3A1	1281	broad.mit.edu	37	2	189868855	189868855	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:189868855G>T	ENST00000304636.3	+	39	2979	c.2809G>T	c.(2809-2811)Gcc>Tcc	p.A937S	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	937	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	ATCGCCTGGTGCCCAGGGCCC	0.473																																						ENST00000304636.3																			0				NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126						c.(2809-2811)Gcc>Tcc		collagen, type III, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						30.0	36.0	34.0					2																	189868855		2203	4300	6503	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189868855G>T	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.2809G>T	2.37:g.189868855G>T	ENSP00000304408:p.Ala937Ser					COL3A1_ENST00000317840.5_Intron	p.A937S	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		39	2979	+			937			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.2809G>T	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	G	3.162	-0.171834	0.06421	.	.	ENSG00000168542	ENST00000304636	D	0.94232	-3.38	5.63	-11.3	0.00108	.	1.579670	0.03855	N	0.272976	D	0.85186	0.5639	L	0.31157	0.91	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.69899	-0.5020	10	0.12430	T	0.62	.	11.1982	0.48726	0.0478:0.1439:0.5451:0.2632	.	937	P02461	CO3A1_HUMAN	S	937	ENSP00000304408:A937S	ENSP00000304408:A937S	A	+	1	0	COL3A1	189577100	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	-1.394000	0.02518	-3.397000	0.00171	-2.682000	0.00141	GCC		0.473	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		7	17	1	0	1.12685e-05	1	1.25705e-05	7	17				
GAS6	2621	broad.mit.edu	37	13	114535790	114535790	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr13:114535790C>G	ENST00000357389.3	-	9	1051	c.899G>C	c.(898-900)cGt>cCt	p.R300P	GAS6_ENST00000327773.6_Intron|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000355761.4_Intron|GAS6_ENST00000418959.3_5'UTR|GAS6_ENST00000450766.1_Intron			Q14393	GAS6_HUMAN	growth arrest-specific 6	300					activation of protein kinase B activity (GO:0032148)|apoptotic cell clearance (GO:0043277)|B cell chemotaxis (GO:0035754)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interferon-alpha (GO:0035457)|cellular response to starvation (GO:0009267)|cellular response to vitamin K (GO:0071307)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|extracellular matrix assembly (GO:0085029)|fusion of virus membrane with host plasma membrane (GO:0019064)|hematopoietic stem cell migration to bone marrow (GO:0097241)|leukocyte migration (GO:0050900)|macrophage cytokine production (GO:0010934)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of oligodendrocyte apoptotic process (GO:1900142)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of renal albumin absorption (GO:2000533)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|peptidyl-serine phosphorylation (GO:0018105)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phagocytosis (GO:0050766)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of TOR signaling (GO:0032008)|post-translational protein modification (GO:0043687)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein targeting to plasma membrane (GO:0072661)|proteolysis (GO:0006508)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|viral entry into host cell (GO:0046718)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|platelet alpha granule lumen (GO:0031093)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|phosphatidylserine binding (GO:0001786)|protein tyrosine kinase activator activity (GO:0030296)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				CTGAGCCCCACGCCCCGGCCG	0.716																																						ENST00000357389.3																			0				central_nervous_system(4)|ovary(1)	5						c.(898-900)cGt>cCt		growth arrest-specific 6																																				SO:0001583	missense	2621				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity	g.chr13:114535790C>G		CCDS45072.1	13q34	2008-07-18			ENSG00000183087	ENSG00000183087			4168	protein-coding gene	gene with protein product	"""AXL stimulatory factor"""	600441		AXLLG		8336730	Standard	NM_000820		Approved	AXSF, FLJ34709, DKFZp666G247	uc001vud.3	Q14393	OTTHUMG00000017395	ENST00000357389.3:c.899G>C	13.37:g.114535790C>G	ENSP00000349962:p.Arg300Pro					GAS6_ENST00000480426.1_5'UTR|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000327773.6_Intron|GAS6_ENST00000450766.1_Intron|GAS6_ENST00000418959.3_5'UTR|GAS6_ENST00000355761.4_Intron	p.R300P			Q14393	GAS6_HUMAN			9	1051	-	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)	300					B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3	Missense_Mutation	SNP	ENST00000357389.3	37	c.899G>C		.	.	.	.	.	.	.	.	.	.	C	0.034	-1.319213	0.01320	.	.	ENSG00000183087	ENST00000357389	D	0.90385	-2.66	0.646	-1.29	0.09288	.	.	.	.	.	D	0.83376	0.5241	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.69143	-0.5223	5	0.41790	T	0.15	.	.	.	.	.	.	.	.	P	300	ENSP00000349962:R300P	ENSP00000349962:R300P	R	-	2	0	GAS6	113578153	0.002000	0.14202	0.001000	0.08648	0.002000	0.02628	-0.039000	0.12124	-1.665000	0.01477	-2.264000	0.00278	CGT		0.716	GAS6-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_000820		24	9	0	0	0	1	0	24	9				
RANBP6	26953	broad.mit.edu	37	9	6013855	6013855	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:6013855C>G	ENST00000259569.5	-	1	1763	c.1753G>C	c.(1753-1755)Gca>Cca	p.A585P	RANBP6_ENST00000485372.1_5'UTR	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	585					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		ACATTTGATGCATCTTGCATA	0.413																																						ENST00000259569.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(1753-1755)Gca>Cca		RAN binding protein 6							161.0	155.0	157.0					9																	6013855		2203	4300	6503	SO:0001583	missense	26953				protein transport	cytoplasm|nucleus	binding	g.chr9:6013855C>G	AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.1753G>C	9.37:g.6013855C>G	ENSP00000259569:p.Ala585Pro					RANBP6_ENST00000485372.1_5'UTR	p.A585P	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)	1	1763	-		Acute lymphoblastic leukemia(23;0.158)	585					Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	ENST00000259569.5	37	c.1753G>C	CCDS6467.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.864917	0.51482	.	.	ENSG00000137040	ENST00000259569	T	0.23950	1.88	4.39	2.54	0.30619	Armadillo-type fold (1);	0.000000	0.85682	U	0.000000	T	0.54631	0.1870	M	0.92970	3.365	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73380	0.98;0.98	T	0.59021	-0.7532	10	0.72032	D	0.01	-0.9807	8.6169	0.33838	0.0:0.822:0.0:0.178	.	173;585	B4DTX6;O60518	.;RNBP6_HUMAN	P	585	ENSP00000259569:A585P	ENSP00000259569:A585P	A	-	1	0	RANBP6	6003855	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.677000	0.37576	0.600000	0.29862	0.650000	0.86243	GCA		0.413	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		69	37	0	0	0	1	0	69	37				
KIF27	55582	broad.mit.edu	37	9	86518413	86518413	+	Silent	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:86518413G>A	ENST00000297814.2	-	4	1163	c.1020C>T	c.(1018-1020)aaC>aaT	p.N340N	KIF27_ENST00000413982.1_Silent_p.N340N|KIF27_ENST00000334204.2_Silent_p.N340N	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	340	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TGTTTCTAATGTTCCGTGCTC	0.438																																						ENST00000297814.2																			0				breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						c.(1018-1020)aaC>aaT		kinesin family member 27							113.0	110.0	111.0					9																	86518413		2203	4300	6503	SO:0001819	synonymous_variant	55582				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:86518413G>A	AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.1020C>T	9.37:g.86518413G>A						KIF27_ENST00000413982.1_Silent_p.N340N|KIF27_ENST00000334204.2_Silent_p.N340N	p.N340N	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN			4	1163	-			340					B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Silent	SNP	ENST00000297814.2	37	c.1020C>T	CCDS6665.1																																																																																				0.438	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		28	68	0	0	0	1	0	28	68				
DGKB	1607	broad.mit.edu	37	7	14378328	14378328	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:14378328C>A	ENST00000403951.2	-	23	2356	c.1937G>T	c.(1936-1938)gGa>gTa	p.G646V	DGKB_ENST00000407950.1_Missense_Mutation_p.G638V|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000402815.1_Missense_Mutation_p.G645V|DGKB_ENST00000406247.3_Missense_Mutation_p.G646V|DGKB_ENST00000258767.5_Missense_Mutation_p.G646V|DGKB_ENST00000399322.3_Missense_Mutation_p.G646V|DGKB_ENST00000444700.2_Missense_Mutation_p.G627V			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	646					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						TATCTGTACTCCATCACACTG	0.338																																						ENST00000403951.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(1936-1938)gGa>gTa		diacylglycerol kinase, beta 90kDa	Phosphatidylserine(DB00144)						61.0	55.0	57.0					7																	14378328		1819	4073	5892	SO:0001583	missense	1607				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	g.chr7:14378328C>A	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.1937G>T	7.37:g.14378328C>A	ENSP00000385780:p.Gly646Val					DGKB_ENST00000407950.1_Missense_Mutation_p.G638V|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Missense_Mutation_p.G646V|DGKB_ENST00000258767.5_Missense_Mutation_p.G646V|DGKB_ENST00000402815.1_Missense_Mutation_p.G645V|DGKB_ENST00000444700.2_Missense_Mutation_p.G627V|DGKB_ENST00000406247.3_Missense_Mutation_p.G646V	p.G646V			Q9Y6T7	DGKB_HUMAN			23	2356	-			646					A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	ENST00000403951.2	37	c.1937G>T	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605007	0.87157	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	T;T;T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48;0.48;0.48	5.5	5.5	0.81552	Diacylglycerol kinase, accessory domain (2);	0.000000	0.85682	D	0.000000	D	0.82453	0.5040	H	0.96208	3.785	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;0.993;0.993;0.994	D	0.87975	0.2739	10	0.87932	D	0	.	19.3986	0.94619	0.0:1.0:0.0:0.0	.	645;627;646;646	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	V	646;646;646;645;638;627;646	ENSP00000385780:G646V;ENSP00000382260:G646V;ENSP00000258767:G646V;ENSP00000384909:G645V;ENSP00000385031:G638V;ENSP00000388451:G627V;ENSP00000386066:G646V	ENSP00000258767:G646V	G	-	2	0	DGKB	14344853	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.818000	0.86416	2.570000	0.86706	0.650000	0.86243	GGA		0.338	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		11	15	1	0	3.86212e-05	1	4.28139e-05	11	15				
NOTCH3	4854	broad.mit.edu	37	19	15295221	15295221	+	Silent	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:15295221G>A	ENST00000263388.2	-	16	2526	c.2451C>T	c.(2449-2451)ccC>ccT	p.P817P		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	817	EGF-like 21; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CACAGGGTGCGGGGCCAGCAC	0.612																																						ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(2449-2451)ccC>ccT		notch 3							73.0	62.0	65.0					19																	15295221		2203	4300	6503	SO:0001819	synonymous_variant	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15295221G>A	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.2451C>T	19.37:g.15295221G>A							p.P817P	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		16	2526	-			817			EGF-like 21; calcium-binding (Potential).		Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	ENST00000263388.2	37	c.2451C>T	CCDS12326.1																																																																																				0.612	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		16	40	0	0	0	1	0	16	40				
NYAP1	222950	broad.mit.edu	37	7	100087211	100087211	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:100087211G>T	ENST00000300179.2	+	4	2026	c.1867G>T	c.(1867-1869)Ggc>Tgc	p.G623C	NYAP1_ENST00000423930.1_Missense_Mutation_p.G623C|NYAP1_ENST00000454988.1_Missense_Mutation_p.G566C	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	623					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												AGAGGAGGTGGGCGCCGCGAC	0.627																																						ENST00000423930.1																			0											c.(1867-1869)Ggc>Tgc		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1							36.0	37.0	37.0					7																	100087211		2202	4300	6502	SO:0001583	missense	222950							g.chr7:100087211G>T	AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"""chromosome 7 open reading frame 51"", ""KIAA1486-like"""	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.1867G>T	7.37:g.100087211G>T	ENSP00000300179:p.Gly623Cys					NYAP1_ENST00000300179.2_Missense_Mutation_p.G623C|NYAP1_ENST00000454988.1_Missense_Mutation_p.G566C	p.G623C			Q6ZVC0	CG051_HUMAN			4	2026	+			623					Q6U9Y3|Q8N1V0	Missense_Mutation	SNP	ENST00000300179.2	37	c.1867G>T	CCDS5696.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.371961	0.24857	.	.	ENSG00000166924	ENST00000300179;ENST00000423930;ENST00000454988	T;T;T	0.32753	1.44;1.44;1.44	5.42	5.42	0.78866	.	0.000000	0.49916	D	0.000126	T	0.35970	0.0950	N	0.24115	0.695	0.38186	D	0.939759	D;D	0.65815	0.995;0.992	P;P	0.57620	0.757;0.824	T	0.21759	-1.0236	10	0.46703	T	0.11	-11.7887	14.7083	0.69208	0.0:0.0:1.0:0.0	.	566;623	C9JS30;Q6ZVC0	.;CG051_HUMAN	C	623;623;566	ENSP00000300179:G623C;ENSP00000411861:G623C;ENSP00000394424:G566C	ENSP00000300179:G623C	G	+	1	0	C7orf51	99925147	1.000000	0.71417	0.973000	0.42090	0.128000	0.20619	2.119000	0.41958	2.531000	0.85337	0.561000	0.74099	GGC		0.627	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339335.2	NM_173564		22	30	1	0	1.22574e-08	1	1.47589e-08	22	30				
TNN	63923	broad.mit.edu	37	1	175066654	175066654	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:175066654C>T	ENST00000239462.4	+	8	1803	c.1690C>T	c.(1690-1692)Cgc>Tgc	p.R564C		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	564	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.R564C(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GTACGTGGTGCGCTACACCTC	0.587																																						ENST00000239462.4																			1	Substitution - Missense(1)	p.R564C(1)	endometrium(1)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(1690-1692)Cgc>Tgc		tenascin N							79.0	68.0	72.0					1																	175066654		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175066654C>T	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.1690C>T	1.37:g.175066654C>T	ENSP00000239462:p.Arg564Cys						p.R564C	NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	8	1803	+		Breast(1374;0.000962)	564			Fibronectin type-III 4.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.1690C>T	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.773329	0.49786	.	.	ENSG00000120332	ENST00000239462	T	0.58652	0.32	5.63	2.53	0.30540	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.502882	0.21292	N	0.076960	T	0.74891	0.3776	M	0.90595	3.13	0.30479	N	0.772567	D	0.58970	0.984	P	0.55161	0.77	T	0.78499	-0.2180	10	0.59425	D	0.04	.	15.2787	0.73764	0.6551:0.3449:0.0:0.0	.	564	Q9UQP3	TENN_HUMAN	C	564	ENSP00000239462:R564C	ENSP00000239462:R564C	R	+	1	0	TNN	173333277	0.159000	0.22864	0.896000	0.35187	0.226000	0.24999	0.494000	0.22467	0.199000	0.20427	-0.152000	0.13540	CGC		0.587	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		4	27	0	0	0	1	0	4	27				
STXBP5	134957	broad.mit.edu	37	6	147556394	147556394	+	Missense_Mutation	SNP	G	G	A	rs144000289		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:147556394G>A	ENST00000321680.6	+	3	257	c.257G>A	c.(256-258)cGt>cAt	p.R86H	STXBP5_ENST00000367480.3_Missense_Mutation_p.R86H|STXBP5_ENST00000179882.6_5'UTR|STXBP5_ENST00000546097.1_Missense_Mutation_p.R86H|STXBP5_ENST00000367481.3_Missense_Mutation_p.R86H	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	86					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		AGCTTTGGTCGTCCAGGAGTA	0.363																																						ENST00000367481.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42						c.(256-258)cGt>cAt		syntaxin binding protein 5 (tomosyn)		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	117.0	117.0	117.0		257,257	5.8	1.0	6	dbSNP_134	117	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	STXBP5	NM_001127715.2,NM_139244.4	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	86/1152,86/1116	147556394	1,13005	2203	4300	6503	SO:0001583	missense	134957				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147556394G>A	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.257G>A	6.37:g.147556394G>A	ENSP00000321826:p.Arg86His					STXBP5_ENST00000179882.6_5'UTR|STXBP5_ENST00000367480.3_Missense_Mutation_p.R86H|STXBP5_ENST00000321680.6_Missense_Mutation_p.R86H|STXBP5_ENST00000546097.1_Missense_Mutation_p.R86H	p.R86H	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	3	365	+		Ovarian(120;0.0164)	86					Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	ENST00000321680.6	37	c.257G>A	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.285800	0.80803	0.0	1.16E-4	ENSG00000164506	ENST00000367481;ENST00000546097;ENST00000321680;ENST00000367480	D;D;D;D	0.95918	-3.85;-3.85;-3.85;-3.85	5.76	5.76	0.90799	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.97225	0.9093	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.982	D	0.95836	0.8862	10	0.36615	T	0.2	.	19.9423	0.97170	0.0:0.0:1.0:0.0	.	86;86	Q5T5C0-2;Q5T5C0	.;STXB5_HUMAN	H	86	ENSP00000356451:R86H;ENSP00000441479:R86H;ENSP00000321826:R86H;ENSP00000356450:R86H	ENSP00000321826:R86H	R	+	2	0	STXBP5	147598087	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.392000	0.97252	2.708000	0.92522	0.591000	0.81541	CGT		0.363	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			13	20	0	0	0	1	0	13	20				
CLEC4D	338339	broad.mit.edu	37	12	8670768	8670768	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:8670768C>A	ENST00000299665.2	+	3	323	c.130C>A	c.(130-132)Cac>Aac	p.H44N		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	44					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)					AGTGACTCATCACAACTTTTC	0.393																																						ENST00000299665.2																			0				large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						c.(130-132)Cac>Aac		C-type lectin domain family 4, member D							62.0	55.0	57.0					12																	8670768		2203	4300	6503	SO:0001583	missense	338339				innate immune response	integral to membrane	sugar binding	g.chr12:8670768C>A	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.130C>A	12.37:g.8670768C>A	ENSP00000299665:p.His44Asn						p.H44N	NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN			3	323	+	Lung SC(5;0.184)		44					Q8N5J5	Missense_Mutation	SNP	ENST00000299665.2	37	c.130C>A	CCDS8593.1	.	.	.	.	.	.	.	.	.	.	C	9.380	1.072701	0.20147	.	.	ENSG00000166527	ENST00000382064;ENST00000299665	T;T	0.04970	3.52;3.78	3.63	2.74	0.32292	.	.	.	.	.	T	0.07683	0.0193	L	0.56769	1.78	0.09310	N	1	B	0.33694	0.421	B	0.32393	0.145	T	0.22836	-1.0205	9	0.51188	T	0.08	.	7.2456	0.26119	0.0:0.8781:0.0:0.1219	.	44	Q8WXI8	CLC4D_HUMAN	N	44	ENSP00000371496:H44N;ENSP00000299665:H44N	ENSP00000299665:H44N	H	+	1	0	CLEC4D	8562035	0.000000	0.05858	0.018000	0.16275	0.123000	0.20343	0.209000	0.17435	1.093000	0.41377	0.542000	0.68232	CAC		0.393	CLEC4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400565.1	NM_080387		9	7	1	0	6.40141e-05	1	7.05218e-05	9	7				
ZNF100	163227	broad.mit.edu	37	19	21910214	21910214	+	Silent	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:21910214C>T	ENST00000358296.6	-	5	1098	c.900G>A	c.(898-900)cgG>cgA	p.R300R	ZNF100_ENST00000305570.6_Silent_p.R236R	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	300					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)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						GGTGTGAAGACCGGTTAAAAG	0.398																																						ENST00000358296.6																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						c.(898-900)cgG>cgA		zinc finger protein 100							42.0	46.0	44.0					19																	21910214		2194	4293	6487	SO:0001819	synonymous_variant	163227				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21910214C>T	BC035579	CCDS42538.1	19p13.1	2013-01-08	2003-12-19		ENSG00000197020	ENSG00000197020		"""Zinc fingers, C2H2-type"", ""-"""	12880	protein-coding gene	gene with protein product		603982	"""zinc finger protein 100 (Y1)"""			12477932	Standard	NM_173531		Approved		uc002nqi.3	Q8IYN0		ENST00000358296.6:c.900G>A	19.37:g.21910214C>T						ZNF100_ENST00000305570.6_Silent_p.R236R	p.R300R	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN			5	1098	-			300					Q7M4M0	Silent	SNP	ENST00000358296.6	37	c.900G>A	CCDS42538.1																																																																																				0.398	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464087.1	NM_173531		33	44	0	0	0	1	0	33	44				
MSH4	4438	broad.mit.edu	37	1	76288149	76288149	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:76288149A>T	ENST00000263187.3	+	7	1149	c.1045A>T	c.(1045-1047)Aga>Tga	p.R349*		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	349					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TGGAGGGAGTAGACGACTTCG	0.338								Mismatch excision repair (MMR)																														ENST00000263187.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						c.(1045-1047)Aga>Tga	Mismatch excision repair (MMR)	mutS homolog 4							94.0	95.0	95.0					1																	76288149		2202	4298	6500	SO:0001587	stop_gained	4438				chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr1:76288149A>T	U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.1045A>T	1.37:g.76288149A>T	ENSP00000263187:p.Arg349*						p.R349*	NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN			7	1149	+			349					Q5T4U6|Q8NEB3|Q9UNP8	Nonsense_Mutation	SNP	ENST00000263187.3	37	c.1045A>T	CCDS670.1	.	.	.	.	.	.	.	.	.	.	A	38	7.066614	0.98040	.	.	ENSG00000057468	ENST00000263187	.	.	.	5.84	2.2	0.27929	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.3576	14.7825	0.69776	0.4776:0.5224:0.0:0.0	.	.	.	.	X	349	.	ENSP00000263187:R349X	R	+	1	2	MSH4	76060737	0.800000	0.28916	0.997000	0.53966	0.984000	0.73092	1.684000	0.37649	0.432000	0.26286	0.528000	0.53228	AGA		0.338	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440		26	42	0	0	0	1	0	26	42				
CC2D1A	54862	broad.mit.edu	37	19	14024105	14024105	+	Missense_Mutation	SNP	G	G	T	rs559696209		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:14024105G>T	ENST00000318003.7	+	5	744	c.503G>T	c.(502-504)cGg>cTg	p.R168L	CC2D1A_ENST00000589606.1_Missense_Mutation_p.R168L	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	168					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|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)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			CGCTACGATCGGGGGCTTAAA	0.607																																						ENST00000318003.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27						c.(502-504)cGg>cTg		coiled-coil and C2 domain containing 1A							25.0	30.0	29.0					19																	14024105		1966	4145	6111	SO:0001583	missense	54862				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity	g.chr19:14024105G>T	AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"""mental retardation, nonsyndromic, autosomal recessive, 3"""	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.503G>T	19.37:g.14024105G>T	ENSP00000313601:p.Arg168Leu					CC2D1A_ENST00000589606.1_Missense_Mutation_p.R168L	p.R168L	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)		5	744	+			168					Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Missense_Mutation	SNP	ENST00000318003.7	37	c.503G>T	CCDS42512.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.977175	0.74360	.	.	ENSG00000132024	ENST00000318003;ENST00000254346;ENST00000389233	T	0.29142	1.58	4.8	4.8	0.61643	Domain of unknown function DM14 (1);	0.065929	0.64402	D	0.000015	T	0.59918	0.2229	M	0.84219	2.685	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.66610	-0.5880	10	0.87932	D	0	-26.1853	16.7813	0.85563	0.0:0.0:1.0:0.0	.	168;168	Q6P1N0-2;Q6P1N0	.;C2D1A_HUMAN	L	168;6;143	ENSP00000313601:R168L	ENSP00000254346:R6L	R	+	2	0	CC2D1A	13885105	1.000000	0.71417	0.996000	0.52242	0.239000	0.25481	7.883000	0.87264	2.494000	0.84150	0.561000	0.74099	CGG		0.607	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457954.1	NM_017721		7	21	1	0	1.06961e-07	1	1.25656e-07	7	21				
TMX2	51075	broad.mit.edu	37	11	57480109	57480109	+	Silent	SNP	C	C	T	rs368851051		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:57480109C>T	ENST00000278422.4	+	1	31	c.19C>T	c.(19-21)Cta>Tta	p.L7L	MED19_ENST00000337672.2_5'Flank|TMX2_ENST00000378312.4_Silent_p.L7L|MED19_ENST00000431606.2_5'Flank|TMX2-CTNND1_ENST00000528395.1_Silent_p.L7L	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	7					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						CTTGGCACCTCTAATTGCTCT	0.602																																						ENST00000278422.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						c.(19-21)Cta>Tta		thioredoxin-related transmembrane protein 2		C	,	1,4401	2.1+/-5.4	0,1,2200	73.0	59.0	64.0		19,19	-5.3	0.0	11		64	0,8592		0,0,4296	no	coding-synonymous,coding-synonymous	TMX2	NM_001144012.2,NM_015959.3	,	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	,	7/259,7/297	57480109	1,12993	2201	4296	6497	SO:0001819	synonymous_variant	51075				cell redox homeostasis	integral to membrane		g.chr11:57480109C>T	AF132965	CCDS7967.1, CCDS44601.1	11q12.1	2012-09-20	2009-02-23	2009-02-23	ENSG00000213593	ENSG00000213593		"""Protein disulfide isomerases"""	30739	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 12"""		"""thioredoxin domain containing 14"""	TXNDC14		12670024	Standard	NM_015959		Approved	PDIA12	uc001nlc.2	Q9Y320	OTTHUMG00000167200	ENST00000278422.4:c.19C>T	11.37:g.57480109C>T						TMX2_ENST00000378312.4_Silent_p.L7L|TMX2-CTNND1_ENST00000528395.1_Silent_p.L7L	p.L7L	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN			1	31	+			7					B7Z4R4|Q53G73|Q561W0|Q5J7Q7|Q8NBP9|Q9H3L1	Silent	SNP	ENST00000278422.4	37	c.19C>T	CCDS7967.1																																																																																				0.602	TMX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393708.1	NM_015959		6	8	0	0	0	1	0	6	8				
CSF2RB	1439	broad.mit.edu	37	22	37334105	37334105	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr22:37334105C>A	ENST00000403662.3	+	14	2477	c.2255C>A	c.(2254-2256)cCc>cAc	p.P752H	CSF2RB_ENST00000262825.5_Missense_Mutation_p.P758H|CSF2RB_ENST00000406230.1_Missense_Mutation_p.P758H|CSF2RB_ENST00000536485.1_Missense_Mutation_p.P699H			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	752					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GCCAGTGGACCCCCTGGAGCC	0.627																																						ENST00000262825.5																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42						c.(2272-2274)cCc>cAc		colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	Sargramostim(DB00020)						39.0	43.0	42.0					22																	37334105		2203	4300	6503	SO:0001583	missense	1439				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	g.chr22:37334105C>A	M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"""CD molecules"", ""Fibronectin type III domain containing"""	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.2255C>A	22.37:g.37334105C>A	ENSP00000384053:p.Pro752His					CSF2RB_ENST00000406230.1_Missense_Mutation_p.P758H|CSF2RB_ENST00000403662.3_Missense_Mutation_p.P752H|CSF2RB_ENST00000536485.1_Missense_Mutation_p.P699H	p.P758H	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN			14	2490	+			752					Q5JZI1|Q6ICE0	Missense_Mutation	SNP	ENST00000403662.3	37	c.2273C>A	CCDS13936.1	.	.	.	.	.	.	.	.	.	.	C	9.987	1.229625	0.22542	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000536485	D;D;D;D	0.93712	-2.75;-3.27;-3.27;-3.27	5.5	1.08	0.20341	.	0.604873	0.14828	N	0.296062	D	0.87665	0.6234	L	0.41824	1.3	0.09310	N	1	B;B	0.27140	0.169;0.105	B;B	0.28553	0.091;0.042	T	0.78698	-0.2103	10	0.62326	D	0.03	-6.3033	4.3996	0.11379	0.156:0.5936:0.0:0.2504	.	758;752	P32927-2;P32927	.;IL3RB_HUMAN	H	752;752;758;758;699	ENSP00000384053:P752H;ENSP00000262825:P758H;ENSP00000385271:P758H;ENSP00000440003:P699H	ENSP00000262825:P758H	P	+	2	0	CSF2RB	35664051	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.106000	0.10890	0.037000	0.15575	-0.277000	0.10078	CCC		0.627	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395		23	26	1	0	6.44725e-10	1	7.98017e-10	23	26				
MAPK10	5602	broad.mit.edu	37	4	87019718	87019718	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:87019718C>T	ENST00000359221.3	-	9	1287	c.761G>A	c.(760-762)gGa>gAa	p.G254E	MAPK10_ENST00000361569.2_Missense_Mutation_p.G254E|MAPK10_ENST00000449047.2_Intron|MAPK10_ENST00000395157.3_Missense_Mutation_p.G109E|MAPK10_ENST00000395161.2_Missense_Mutation_p.G254E|MAPK10_ENST00000395160.3_Missense_Mutation_p.G109E|MAPK10_ENST00000395166.1_Missense_Mutation_p.G216E|MAPK10_ENST00000395169.3_Missense_Mutation_p.G216E			P53779	MK10_HUMAN	mitogen-activated protein kinase 10	254	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|JUN kinase activity (GO:0004705)|MAP kinase kinase activity (GO:0004708)			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		AACCATTTCTCCCATAATGCA	0.413																																						ENST00000395169.3																			0				breast(1)|central_nervous_system(1)|stomach(1)	3						c.(646-648)gGa>gAa		mitogen-activated protein kinase 10							154.0	146.0	149.0					4																	87019718		2203	4300	6503	SO:0001583	missense	5602				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding	g.chr4:87019718C>T	U07620	CCDS3612.1, CCDS3613.1, CCDS34026.1, CCDS43247.1	4q22-q23	2011-06-09			ENSG00000109339	ENSG00000109339	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6872	protein-coding gene	gene with protein product		602897		PRKM10		8654373, 12436199	Standard	NM_002753		Approved	JNK3, p493F12, p54bSAPK	uc003hpt.3	P53779	OTTHUMG00000130604	ENST00000359221.3:c.761G>A	4.37:g.87019718C>T	ENSP00000352157:p.Gly254Glu					MAPK10_ENST00000395160.3_Missense_Mutation_p.G109E|MAPK10_ENST00000361569.2_Missense_Mutation_p.G254E|MAPK10_ENST00000359221.3_Missense_Mutation_p.G254E|MAPK10_ENST00000395157.3_Missense_Mutation_p.G109E|MAPK10_ENST00000395161.2_Missense_Mutation_p.G254E|MAPK10_ENST00000449047.2_Intron|MAPK10_ENST00000395166.1_Missense_Mutation_p.G216E	p.G216E	NM_138980.2|NM_138982.2	NP_620446.1|NP_620448.1	P53779	MK10_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.002)	9	1367	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)	254			Protein kinase.		A6NFS3|A6NG28|B3KQ94|Q15707|Q49AP1	Missense_Mutation	SNP	ENST00000359221.3	37	c.647G>A	CCDS34026.1	.	.	.	.	.	.	.	.	.	.	C	32	5.127813	0.94473	.	.	ENSG00000109339	ENST00000395169;ENST00000359221;ENST00000395157;ENST00000361569;ENST00000395166;ENST00000395160;ENST00000395161	D;D;D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64	5.92	5.92	0.95590	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.90229	0.6945	M	0.65975	2.015	0.80722	D	1	D;D	0.69078	0.997;0.996	P;D	0.63877	0.907;0.919	D	0.90281	0.4315	10	0.87932	D	0	-14.308	20.327	0.98704	0.0:1.0:0.0:0.0	.	254;254	P53779-2;P53779	.;MK10_HUMAN	E	216;254;109;254;216;109;254	ENSP00000378598:G216E;ENSP00000352157:G254E;ENSP00000378586:G109E;ENSP00000355297:G254E;ENSP00000378595:G216E;ENSP00000378589:G109E;ENSP00000378590:G254E	ENSP00000352157:G254E	G	-	2	0	MAPK10	87238742	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.855000	0.62925	2.794000	0.96219	0.650000	0.86243	GGA		0.413	MAPK10-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000361363.2			21	29	0	0	0	1	0	21	29				
SLC18A3	6572	broad.mit.edu	37	10	50819629	50819629	+	Silent	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr10:50819629C>A	ENST00000374115.3	+	1	1283	c.843C>A	c.(841-843)ccC>ccA	p.P281P	CHAT_ENST00000339797.1_Intron|CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000455728.2_5'Flank|CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000395559.2_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	281					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						TGGGCACTCCCATCCACCGCC	0.647																																						ENST00000374115.3																			0				endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						c.(841-843)ccC>ccA		solute carrier family 18 (vesicular acetylcholine transporter), member 3							51.0	47.0	49.0					10																	50819629		2203	4300	6503	SO:0001819	synonymous_variant	6572				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	g.chr10:50819629C>A	BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"""Solute carriers"""	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.843C>A	10.37:g.50819629C>A						CHAT_ENST00000339797.1_Intron	p.P281P	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN			1	1283	+			281					B2R7S1	Silent	SNP	ENST00000374115.3	37	c.843C>A	CCDS7231.1																																																																																				0.647	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	NM_003055		27	10	1	0	2.24059e-21	1	3.1475e-21	27	10				
STAT4	6775	broad.mit.edu	37	2	191929664	191929664	+	Silent	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:191929664G>T	ENST00000392320.2	-	8	965	c.651C>A	c.(649-651)acC>acA	p.T217T	STAT4_ENST00000358470.4_Silent_p.T217T	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	217					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			GGATGATTTGGGTCATTTTAC	0.433																																						ENST00000392320.2																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42						c.(649-651)acC>acA		signal transducer and activator of transcription 4							134.0	144.0	141.0					2																	191929664		2203	4300	6503	SO:0001819	synonymous_variant	6775				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191929664G>T		CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"""SH2 domain containing"""	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.651C>A	2.37:g.191929664G>T						STAT4_ENST00000358470.4_Silent_p.T217T	p.T217T	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)		8	965	-			217					Q96NZ6	Silent	SNP	ENST00000392320.2	37	c.651C>A	CCDS2310.1																																																																																				0.433	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	NM_003151		58	88	1	0	2.22609e-26	1	3.19473e-26	58	88				
CUBN	8029	broad.mit.edu	37	10	17113555	17113555	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr10:17113555A>T	ENST00000377833.4	-	19	2560	c.2495T>A	c.(2494-2496)tTt>tAt	p.F832Y		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	832	CUB 4. {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)	CACGTTAGGAAAAAAAGGCGA	0.418																																						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.(2494-2496)tTt>tAt		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						72.0	74.0	73.0					10																	17113555		2203	4300	6503	SO:0001583	missense	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.chr10:17113555A>T	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.2495T>A	10.37:g.17113555A>T	ENSP00000367064:p.Phe832Tyr						p.F832Y	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			19	2560	-			832			CUB 4.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.2495T>A	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	A	0.588	-0.834313	0.02713	.	.	ENSG00000107611	ENST00000377833	T	0.11495	2.77	5.47	4.32	0.51571	CUB (5);	0.212718	0.23684	N	0.045581	T	0.03520	0.0101	N	0.02103	-0.685	0.80722	D	1	B	0.10296	0.003	B	0.12156	0.007	T	0.30621	-0.9972	10	0.02654	T	1	.	10.6841	0.45833	0.3352:0.0:0.0:0.6648	.	832	O60494	CUBN_HUMAN	Y	832	ENSP00000367064:F832Y	ENSP00000367064:F832Y	F	-	2	0	CUBN	17153561	1.000000	0.71417	0.694000	0.30210	0.498000	0.33706	3.230000	0.51286	0.897000	0.36392	-0.780000	0.03373	TTT		0.418	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		30	11	0	0	0	1	0	30	11				
CALCA	796	broad.mit.edu	37	11	14990424	14990424	+	Intron	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:14990424G>T	ENST00000486207.1	-	3	236				CALCA_ENST00000331587.4_Missense_Mutation_p.P116H|CALCA_ENST00000361010.3_Intron|CALCB_ENST00000523376.1_Intron|CALCA_ENST00000359642.3_Missense_Mutation_p.P116H|CALCA_ENST00000396372.2_Missense_Mutation_p.P116H			P06881	CALCA_HUMAN	calcitonin-related polypeptide alpha						activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|cytosolic calcium ion homeostasis (GO:0051480)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|G-protein coupled receptor internalization (GO:0002031)|leukocyte cell-cell adhesion (GO:0007159)|negative regulation of blood pressure (GO:0045776)|negative regulation of bone resorption (GO:0045779)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of osteoclast differentiation (GO:0045671)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of vasodilation (GO:0045909)|protein phosphorylation (GO:0006468)|receptor internalization (GO:0031623)|regulation of blood pressure (GO:0008217)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	protein complex binding (GO:0032403)|receptor binding (GO:0005102)			central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8						TTTCTTTCCAGGTGCTCCAAC	0.507																																						ENST00000331587.4																			0				central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8						c.(346-348)cCt>cAt		calcitonin-related polypeptide alpha	Phentolamine(DB00692)						226.0	183.0	197.0					11																	14990424		2200	4294	6494	SO:0001627	intron_variant	796				activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation	cytosol|extracellular space	hormone activity	g.chr11:14990424G>T	X00356, M64486	CCDS7819.1, CCDS31432.1	11p15.2	2014-09-17	2008-02-20		ENSG00000110680	ENSG00000110680		"""Endogenous ligands"""	1437	protein-coding gene	gene with protein product	"""calcitonin"""	114130	"""calcitonin 1"""	CALC1		6546550	Standard	NM_001033953		Approved		uc001mlw.1	P01258	OTTHUMG00000159731	ENST00000486207.1:c.228-1024C>A	11.37:g.14990424G>T						CALCA_ENST00000359642.3_Missense_Mutation_p.P116H|CALCB_ENST00000523376.1_Intron|CALCA_ENST00000361010.3_Intron|CALCA_ENST00000396372.2_Missense_Mutation_p.P116H|CALCA_ENST00000486207.1_Intron	p.P116H	NM_001741.2	NP_001732.1	P06881	CALCA_HUMAN			4	465	-			119					Q93048|Q9UCP0	Missense_Mutation	SNP	ENST00000486207.1	37	c.347C>A	CCDS31432.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.468382	0.43839	.	.	ENSG00000110680	ENST00000359642;ENST00000331587;ENST00000396372	T;T;T	0.23147	1.92;1.92;1.92	4.61	3.69	0.42338	Calcitonin peptide-like (1);	0.000000	0.85682	D	0.000000	T	0.51517	0.1679	M	0.80746	2.51	0.51233	D	0.999916	D	0.89917	1.0	D	0.85130	0.997	T	0.54510	-0.8283	10	0.33141	T	0.24	-18.89	15.1126	0.72372	0.0:0.1423:0.8577:0.0	.	116	P01258	CALC_HUMAN	H	116	ENSP00000352663:P116H;ENSP00000331746:P116H;ENSP00000379657:P116H	ENSP00000331746:P116H	P	-	2	0	CALCA	14947000	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.031000	0.64134	1.295000	0.44724	0.655000	0.94253	CCT		0.507	CALCA-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357068.1	NM_001741		30	54	1	0	3.11337e-16	1	4.14336e-16	30	54				
SSPO	23145	broad.mit.edu	37	7	149506177	149506177	+	RNA	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:149506177G>C	ENST00000378016.2	+	0	9169							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGTGCCCTGTGGTGGTGGCTA	0.701																																						ENST00000378016.2																			0													SCO-spondin							20.0	28.0	26.0					7																	149506177		2055	4182	6237			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149506177G>C	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149506177G>C										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	9169	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.701	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				4	3	0	0	0	1	0	4	3				
CYTIP	9595	broad.mit.edu	37	2	158272365	158272365	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:158272365T>C	ENST00000264192.3	-	8	1025	c.904A>G	c.(904-906)Aac>Gac	p.N302D	CYTIP_ENST00000540637.1_Missense_Mutation_p.N196D	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	302	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						ATGCTCCGGTTCCTCCTTGAA	0.552																																						ENST00000264192.3																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						c.(904-906)Aac>Gac		cytohesin 1 interacting protein							118.0	110.0	113.0					2																	158272365		2203	4300	6503	SO:0001583	missense	9595				regulation of cell adhesion	cell cortex|early endosome	protein binding	g.chr2:158272365T>C	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.904A>G	2.37:g.158272365T>C	ENSP00000264192:p.Asn302Asp					CYTIP_ENST00000540637.1_Missense_Mutation_p.N196D	p.N302D	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN			8	1025	-			302			Ser-rich.		B4DWH9|Q15630|Q8NE32	Missense_Mutation	SNP	ENST00000264192.3	37	c.904A>G	CCDS2204.1	.	.	.	.	.	.	.	.	.	.	T	6.905	0.536527	0.13188	.	.	ENSG00000115165	ENST00000264192;ENST00000540637	T;T	0.45276	2.19;0.9	5.62	3.13	0.36017	.	0.414501	0.29853	N	0.011027	T	0.28665	0.0710	M	0.63428	1.95	0.19575	N	0.999967	P	0.44195	0.828	B	0.36244	0.22	T	0.16482	-1.0401	10	0.12430	T	0.62	-7.5611	3.3281	0.07074	0.1231:0.0804:0.3683:0.4283	.	302	O60759	CYTIP_HUMAN	D	302;196	ENSP00000264192:N302D;ENSP00000440801:N196D	ENSP00000264192:N302D	N	-	1	0	CYTIP	157980611	0.868000	0.29978	0.460000	0.27093	0.028000	0.11728	0.746000	0.26275	0.444000	0.26612	-0.408000	0.06270	AAC		0.552	CYTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254926.1	NM_004288		24	40	0	0	0	1	0	24	40				
FCGRT	2217	broad.mit.edu	37	19	50029346	50029346	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:50029346G>T	ENST00000221466.5	+	7	1554	c.1068G>T	c.(1066-1068)aaG>aaT	p.K356N	RCN3_ENST00000270645.3_5'Flank|FCGRT_ENST00000426395.3_Missense_Mutation_p.K356N|FCGRT_ENST00000596975.1_Missense_Mutation_p.K264N|FCGRT_ENST00000599988.1_Missense_Mutation_p.K90N	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	356					antigen processing and presentation (GO:0019882)|IgG immunoglobulin transcytosis in epithelial cells mediated by FcRn immunoglobulin receptor (GO:0002416)|immune response (GO:0006955)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG binding (GO:0019864)			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		CTGATTTGAAGGATGTAAATG	0.582																																						ENST00000221466.5																			0				endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9						c.(1066-1068)aaG>aaT		Fc fragment of IgG, receptor, transporter, alpha							110.0	110.0	110.0					19																	50029346		2203	4300	6503	SO:0001583	missense	2217				antigen processing and presentation|female pregnancy|immune response	integral to membrane|MHC class I protein complex	IgG binding|receptor activity	g.chr19:50029346G>T	U12255	CCDS12770.1	19q13.3	2013-01-11				ENSG00000104870		"""Immunoglobulin superfamily / C1-set domain containing"""	3621	protein-coding gene	gene with protein product		601437				7964511, 8646894	Standard	NM_001136019		Approved	FCRN, alpha-chain	uc002pog.2	P55899		ENST00000221466.5:c.1068G>T	19.37:g.50029346G>T	ENSP00000221466:p.Lys356Asn					FCGRT_ENST00000426395.3_Missense_Mutation_p.K356N|FCGRT_ENST00000596975.1_Missense_Mutation_p.K264N|FCGRT_ENST00000599988.1_Missense_Mutation_p.K90N	p.K356N	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)	7	1554	+		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)	356					Q5HYM5|Q9HBV7|Q9NZ19	Missense_Mutation	SNP	ENST00000221466.5	37	c.1068G>T	CCDS12770.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.650815	0.29336	.	.	ENSG00000104870	ENST00000221466;ENST00000426395	T;T	0.00760	5.73;5.73	4.29	1.81	0.25067	.	.	.	.	.	T	0.00724	0.0024	N	0.22421	0.69	0.23249	N	0.998044	B	0.22276	0.067	B	0.17098	0.017	T	0.48043	-0.9069	9	0.87932	D	0	.	6.9519	0.24550	0.1807:0.0:0.8193:0.0	.	356	P55899	FCGRN_HUMAN	N	356	ENSP00000221466:K356N;ENSP00000410798:K356N	ENSP00000221466:K356N	K	+	3	2	FCGRT	54721158	0.003000	0.15002	0.139000	0.22197	0.009000	0.06853	-0.027000	0.12371	0.501000	0.28013	0.563000	0.77884	AAG		0.582	FCGRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465267.1			52	85	1	0	2.01807e-28	1	2.90405e-28	52	85				
NCAPD3	23310	broad.mit.edu	37	11	134062790	134062790	+	Silent	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:134062790G>A	ENST00000534548.2	-	16	1903	c.1839C>T	c.(1837-1839)tgC>tgT	p.C613C		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	613					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		GGATCTGCACGCATCTAGGCT	0.502																																						ENST00000534548.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(1837-1839)tgC>tgT		non-SMC condensin II complex, subunit D3							57.0	56.0	56.0					11																	134062790		2201	4297	6498	SO:0001819	synonymous_variant	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134062790G>A	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.1839C>T	11.37:g.134062790G>A							p.C613C	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	16	1903	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	613					A6NFS2|Q4KMQ9	Silent	SNP	ENST00000534548.2	37	c.1839C>T	CCDS31723.1																																																																																				0.502	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		28	37	0	0	0	1	0	28	37				
PLXNA2	5362	broad.mit.edu	37	1	208211756	208211756	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:208211756T>C	ENST00000367033.3	-	26	5481	c.4724A>G	c.(4723-4725)gAg>gGg	p.E1575G		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1575					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CCAGTCACCCTCAATCTTGGT	0.602																																						ENST00000367033.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(4723-4725)gAg>gGg		plexin A2							174.0	142.0	153.0					1																	208211756		2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208211756T>C	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.4724A>G	1.37:g.208211756T>C	ENSP00000356000:p.Glu1575Gly						p.E1575G	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	26	5481	-			1575					A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.4724A>G	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.965228	0.74131	.	.	ENSG00000076356	ENST00000367033	T	0.13901	2.55	5.11	5.11	0.69529	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.17450	0.0419	L	0.56280	1.765	0.80722	D	1	B	0.27351	0.176	B	0.28916	0.096	T	0.02042	-1.1224	10	0.59425	D	0.04	.	14.9285	0.70898	0.0:0.0:0.0:1.0	.	1575	O75051	PLXA2_HUMAN	G	1575	ENSP00000356000:E1575G	ENSP00000356000:E1575G	E	-	2	0	PLXNA2	206278379	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.741000	0.84997	1.923000	0.55706	0.374000	0.22700	GAG		0.602	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		21	59	0	0	0	1	0	21	59				
PROL1	58503	broad.mit.edu	37	4	71275771	71275771	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:71275771A>T	ENST00000399575.2	+	3	900	c.726A>T	c.(724-726)aaA>aaT	p.K242N		NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	242					negative regulation of endopeptidase activity (GO:0010951)|regulation of sensory perception of pain (GO:0051930)|retina homeostasis (GO:0001895)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)|peptidase inhibitor activity (GO:0030414)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				TTTGGCAAAAACTCTTTGCCA	0.378																																						ENST00000399575.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15						c.(724-726)aaA>aaT		proline rich, lacrimal 1							47.0	46.0	46.0					4																	71275771		1828	4092	5920	SO:0001583	missense	58503				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity	g.chr4:71275771A>T	S83198	CCDS43235.1	4q13.3	2011-10-28	2005-02-07		ENSG00000171199	ENSG00000171199			17279	protein-coding gene	gene with protein product		608936	"""proline rich 1"""			8670737	Standard	NM_021225		Approved	BPLP, PRL1, opiorphin	uc003hfi.3	Q99935	OTTHUMG00000160845	ENST00000399575.2:c.726A>T	4.37:g.71275771A>T	ENSP00000382485:p.Lys242Asn						p.K242N	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN			3	900	+		all_hematologic(202;0.196)	242					A8MZ07|P85047	Missense_Mutation	SNP	ENST00000399575.2	37	c.726A>T	CCDS43235.1	.	.	.	.	.	.	.	.	.	.	A	5.964	0.361813	0.11296	.	.	ENSG00000171199	ENST00000399575	.	.	.	2.81	-3.06	0.05379	.	.	.	.	.	T	0.34513	0.0900	N	0.19112	0.55	0.09310	N	1	D	0.65815	0.995	D	0.66979	0.948	T	0.25012	-1.0144	8	0.87932	D	0	.	3.9784	0.09484	0.3973:0.2093:0.3934:0.0	.	242	Q99935	PROL1_HUMAN	N	242	.	ENSP00000382485:K242N	K	+	3	2	PROL1	71310360	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	-1.055000	0.03493	-0.614000	0.05687	0.482000	0.46254	AAA		0.378	PROL1-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000362639.1	NM_021225		8	25	0	0	0	1	0	8	25				
PRICKLE1	144165	broad.mit.edu	37	12	42853645	42853645	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:42853645T>C	ENST00000455697.1	-	8	2747	c.2462A>G	c.(2461-2463)aAg>aGg	p.K821R	PRICKLE1_ENST00000345127.3_Missense_Mutation_p.K821R|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.K821R|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.K821R|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.K821R|RP11-328C8.4_ENST00000547824.1_RNA	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	821	Poly-Lys.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		CTTGTGTCCCTTTTTCTTCTT	0.403																																						ENST00000455697.1																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						c.(2461-2463)aAg>aGg		prickle homolog 1 (Drosophila)							187.0	178.0	181.0					12																	42853645		2203	4300	6503	SO:0001583	missense	144165				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding	g.chr12:42853645T>C	AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"""prickle-like 1 (Drosophila)"""			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.2462A>G	12.37:g.42853645T>C	ENSP00000401060:p.Lys821Arg					PRICKLE1_ENST00000345127.3_Missense_Mutation_p.K821R|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.K821R|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.K821R|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.K821R|RP11-328C8.4_ENST00000547824.1_RNA	p.K821R	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN		GBM - Glioblastoma multiforme(48;0.2)	8	2747	-	all_cancers(12;4.25e-05)|Breast(8;0.176)		821			Poly-Lys.		Q14C83|Q71QF8|Q96N00	Missense_Mutation	SNP	ENST00000455697.1	37	c.2462A>G	CCDS8742.1	.	.	.	.	.	.	.	.	.	.	T	12.65	2.001248	0.35320	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	4.75	3.6	0.41247	.	0.088670	0.85682	N	0.000000	T	0.39200	0.1069	N	0.08118	0	0.39944	D	0.974441	B	0.16603	0.018	B	0.12156	0.007	T	0.17961	-1.0352	10	0.08381	T	0.77	-23.9075	8.2953	0.31982	0.0:0.1764:0.0:0.8236	.	821	Q96MT3	PRIC1_HUMAN	R	821	ENSP00000401060:K821R;ENSP00000398947:K821R;ENSP00000448359:K821R;ENSP00000345064:K821R;ENSP00000449819:K821R	ENSP00000345064:K821R	K	-	2	0	PRICKLE1	41139912	0.992000	0.36948	1.000000	0.80357	0.997000	0.91878	1.274000	0.33132	0.956000	0.37904	0.533000	0.62120	AAG		0.403	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1			5	95	0	0	0	1	0	5	95				
HOXD4	3233	broad.mit.edu	37	2	177017513	177017513	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:177017513A>T	ENST00000306324.3	+	2	1023	c.611A>T	c.(610-612)aAc>aTc	p.N204I	HOXD3_ENST00000468418.3_5'UTR|MIR10B_ENST00000385011.1_RNA	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	204					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		TGGTTCCAGAACCGGAGGATG	0.502																																						ENST00000306324.3																			0				kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(610-612)aAc>aTc		homeobox D4							88.0	89.0	89.0					2																	177017513		2203	4300	6503	SO:0001583	missense	3233					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:177017513A>T		CCDS2269.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170166	ENSG00000170166		"""Homeoboxes / ANTP class : HOXL subclass"""	5138	protein-coding gene	gene with protein product		142981	"""homeo box D4"""	HOX4B, HOX4		1973146, 1358459	Standard	NM_014621		Approved		uc002uks.3	P09016	OTTHUMG00000132515	ENST00000306324.3:c.611A>T	2.37:g.177017513A>T	ENSP00000302548:p.Asn204Ile					HOXD3_ENST00000468418.3_5'UTR	p.N204I	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)	2	1023	+			204					B2R9R3|Q96AU0	Missense_Mutation	SNP	ENST00000306324.3	37	c.611A>T	CCDS2269.1	.	.	.	.	.	.	.	.	.	.	A	19.70	3.876246	0.72180	.	.	ENSG00000170166	ENST00000306324	D	0.99394	-5.82	5.27	5.27	0.74061	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99725	0.9893	H	0.99415	4.555	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96900	0.9659	10	0.87932	D	0	.	15.1794	0.72941	1.0:0.0:0.0:0.0	.	204	P09016	HXD4_HUMAN	I	204	ENSP00000302548:N204I	ENSP00000302548:N204I	N	+	2	0	HOXD4	176725759	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	1.988000	0.58038	0.459000	0.35465	AAC		0.502	HOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255697.2			25	52	0	0	0	1	0	25	52				
DSP	1832	broad.mit.edu	37	6	7584228	7584228	+	Missense_Mutation	SNP	G	G	C	rs539763516		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:7584228G>C	ENST00000379802.3	+	24	7074	c.6733G>C	c.(6733-6735)Gag>Cag	p.E2245Q	DSP_ENST00000418664.2_Missense_Mutation_p.E1646Q	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2245	4.5 X 38 AA tandem repeats (Domain B).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TTCTTATGACGAGGTTGGTGA	0.448																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(6733-6735)Gag>Cag		desmoplakin							79.0	76.0	77.0					6																	7584228		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7584228G>C	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.6733G>C	6.37:g.7584228G>C	ENSP00000369129:p.Glu2245Gln					DSP_ENST00000418664.2_Missense_Mutation_p.E1646Q	p.E2245Q	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	7074	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	2245			Globular 2.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.6733G>C	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.968395	0.74131	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.71222	-0.55;-0.55	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000004	T	0.74733	0.3755	L	0.56199	1.76	0.39193	D	0.963002	P;D	0.71674	0.841;0.998	B;P	0.58331	0.419;0.837	T	0.71600	-0.4544	10	0.38643	T	0.18	.	20.0281	0.97530	0.0:0.0:1.0:0.0	.	1693;2245	Q4LE79;P15924	.;DESP_HUMAN	Q	2245;1646	ENSP00000369129:E2245Q;ENSP00000396591:E1646Q	ENSP00000369129:E2245Q	E	+	1	0	DSP	7529227	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.965000	0.87945	2.818000	0.97014	0.655000	0.94253	GAG		0.448	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		18	18	0	0	0	1	0	18	18				
ZBTB4	57659	broad.mit.edu	37	17	7370046	7370046	+	Silent	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:7370046G>T	ENST00000311403.4	-	3	414	c.75C>A	c.(73-75)ctC>ctA	p.L25L	ZBTB4_ENST00000380599.4_Silent_p.L25L	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	25					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		AGAGGCCACGGAGCCGCTGTT	0.647																																						ENST00000311403.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36						c.(73-75)ctC>ctA		zinc finger and BTB domain containing 4							34.0	27.0	29.0					17																	7370046		2201	4300	6501	SO:0001819	synonymous_variant	57659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:7370046G>T	AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.75C>A	17.37:g.7370046G>T						ZBTB4_ENST00000380599.4_Silent_p.L25L	p.L25L	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)	3	414	-		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)	25					B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Silent	SNP	ENST00000311403.4	37	c.75C>A	CCDS11107.1																																																																																				0.647	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226940.2	NM_020899		8	1	1	0	5.18039e-06	1	5.81562e-06	8	1				
BAGE2	85319	broad.mit.edu	37	21	11038825	11038825	+	RNA	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr21:11038825C>T	ENST00000470054.1	-	0	1378							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAGTTGTTGGCATGATGTTTC	0.453																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11038825C>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11038825C>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	1378	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.453	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		16	188	0	0	0	1	0	16	188				
DOCK8	81704	broad.mit.edu	37	9	286539	286539	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:286539C>T	ENST00000453981.1	+	3	347	c.235C>T	c.(235-237)Ctt>Ttt	p.L79F	DOCK8_ENST00000469391.1_Missense_Mutation_p.L11F|DOCK8_ENST00000432829.2_Missense_Mutation_p.L11F			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	79					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GGATGTGCAGCTTGCCCAGGA	0.547																																						ENST00000432829.2																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(31-33)Ctt>Ttt		dedicator of cytokinesis 8							120.0	106.0	111.0					9																	286539		2203	4300	6503	SO:0001583	missense	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:286539C>T	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.235C>T	9.37:g.286539C>T	ENSP00000408464:p.Leu79Phe					DOCK8_ENST00000469391.1_Missense_Mutation_p.L11F|DOCK8_ENST00000453981.1_Missense_Mutation_p.L79F	p.L11F	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	3	347	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	79					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.31C>T	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	C	12.99	2.103641	0.37145	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000479404;ENST00000487230;ENST00000469391	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	5.47	5.47	0.80525	.	0.255560	0.32640	N	0.005840	T	0.47340	0.1440	L	0.54323	1.7	0.36212	D	0.851447	B;P;B	0.51791	0.041;0.948;0.01	B;P;B	0.54499	0.034;0.754;0.014	T	0.57230	-0.7847	10	0.45353	T	0.12	.	6.5988	0.22689	0.1507:0.7042:0.0:0.1451	.	11;79;79	E9PH09;A2A349;Q8NF50	.;.;DOCK8_HUMAN	F	79;79;11;11;11;11	ENSP00000408464:L79F;ENSP00000394888:L11F;ENSP00000417082:L11F;ENSP00000418318:L11F;ENSP00000419438:L11F	ENSP00000287364:L79F	L	+	1	0	DOCK8	276539	0.999000	0.42202	1.000000	0.80357	0.857000	0.48899	1.796000	0.38794	2.574000	0.86865	0.563000	0.77884	CTT		0.547	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		15	6	0	0	0	1	0	15	6				
KHDRBS2	202559	broad.mit.edu	37	6	62887155	62887155	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:62887155C>A	ENST00000281156.4	-	2	432	c.154G>T	c.(154-156)Gtc>Ttc	p.V52F		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	52					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)		TTGCTGATGACATCAAGATAC	0.333																																						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.(154-156)Gtc>Ttc		KH domain containing, RNA binding, signal transduction associated 2							135.0	124.0	128.0					6																	62887155		2200	4299	6499	SO:0001583	missense	202559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr6:62887155C>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.154G>T	6.37:g.62887155C>A	ENSP00000281156:p.Val52Phe						p.V52F	NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.149)	2	432	-			52					A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP	ENST00000281156.4	37	c.154G>T	CCDS4963.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.108517	0.77096	.	.	ENSG00000112232	ENST00000281156;ENST00000539571	T	0.18810	2.19	5.25	5.25	0.73442	.	0.061993	0.64402	D	0.000003	T	0.21801	0.0525	L	0.47190	1.495	0.44067	D	0.996817	D	0.56287	0.975	P	0.56163	0.793	T	0.00904	-1.1520	10	0.66056	D	0.02	-3.0835	11.3289	0.49465	0.0:0.9164:0.0:0.0836	.	52	Q5VWX1	KHDR2_HUMAN	F	52	ENSP00000281156:V52F	ENSP00000281156:V52F	V	-	1	0	KHDRBS2	62945114	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.406000	0.52637	2.447000	0.82792	0.460000	0.39030	GTC		0.333	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688		7	13	1	0	2.0095e-06	1	2.28489e-06	7	13				
SLITRK4	139065	broad.mit.edu	37	X	142717766	142717766	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chrX:142717766T>A	ENST00000381779.4	-	2	1384	c.1159A>T	c.(1159-1161)Aat>Tat	p.N387Y	SLITRK4_ENST00000338017.4_Missense_Mutation_p.N387Y|SLITRK4_ENST00000356928.1_Missense_Mutation_p.N387Y	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	387						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TTGATGCTATTGCCATTGACG	0.408																																						ENST00000381779.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60						c.(1159-1161)Aat>Tat		SLIT and NTRK-like family, member 4							216.0	173.0	187.0					X																	142717766		2203	4300	6503	SO:0001583	missense	139065					integral to membrane		g.chrX:142717766T>A	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.1159A>T	X.37:g.142717766T>A	ENSP00000371198:p.Asn387Tyr					SLITRK4_ENST00000338017.4_Missense_Mutation_p.N387Y|SLITRK4_ENST00000356928.1_Missense_Mutation_p.N387Y	p.N387Y	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN			2	1384	-	Acute lymphoblastic leukemia(192;6.56e-05)		387					Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	c.1159A>T	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	T	15.98	2.993864	0.54041	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.69435	-0.4;-0.4;-0.4	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.84759	0.5543	M	0.91768	3.24	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88134	0.2840	10	0.87932	D	0	-12.0973	13.3568	0.60633	0.0:0.0:0.0:1.0	.	387	Q8IW52	SLIK4_HUMAN	Y	387	ENSP00000371198:N387Y;ENSP00000349400:N387Y;ENSP00000336627:N387Y	ENSP00000336627:N387Y	N	-	1	0	SLITRK4	142545432	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.997000	0.88414	1.906000	0.55180	0.481000	0.45027	AAT		0.408	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		53	27	0	0	0	1	0	53	27				
SLC16A1	6566	broad.mit.edu	37	1	113460416	113460416	+	Silent	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:113460416C>T	ENST00000538576.1	-	4	1443	c.612G>A	c.(610-612)aaG>aaA	p.K204K	SLC16A1_ENST00000369626.3_Silent_p.K204K|SLC16A1_ENST00000433570.4_Silent_p.K204K	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	204			K -> E (in SDLT). {ECO:0000269|PubMed:10590411}.		behavioral response to nutrient (GO:0051780)|blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|cellular response to organic cyclic compound (GO:0071407)|centrosome organization (GO:0051297)|glucose homeostasis (GO:0042593)|leukocyte migration (GO:0050900)|lipid metabolic process (GO:0006629)|mevalonate transport (GO:0015728)|monocarboxylic acid transport (GO:0015718)|plasma membrane lactate transport (GO:0035879)|pyruvate metabolic process (GO:0006090)|regulation of insulin secretion (GO:0050796)|response to food (GO:0032094)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	mevalonate transmembrane transporter activity (GO:0015130)|monocarboxylic acid transmembrane transporter activity (GO:0008028)|organic cyclic compound binding (GO:0097159)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Acetic acid(DB03166)|Aminohippurate(DB00345)|Ampicillin(DB00415)|Foscarnet(DB00529)|Gamma Hydroxybutyric Acid(DB01440)|Methotrexate(DB00563)|Nateglinide(DB00731)|Niacin(DB00627)|Niflumic Acid(DB04552)|Pravastatin(DB00175)|Probenecid(DB01032)|Pyruvic acid(DB00119)|Salicylic acid(DB00936)|Valproic Acid(DB00313)	CTTTCCCTGCCTTGGTTGGCT	0.463																																						ENST00000538576.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20						c.(610-612)aaG>aaA		solute carrier family 16 (monocarboxylate transporter), member 1	Pyruvic acid(DB00119)						101.0	99.0	99.0					1																	113460416		2203	4300	6503	SO:0001819	synonymous_variant	6566				blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr1:113460416C>T	BC026317	CCDS858.1	1p12	2013-07-18	2013-07-18		ENSG00000155380	ENSG00000155380		"""Solute carriers"""	10922	protein-coding gene	gene with protein product		600682	"""solute carrier family 16 (monocarboxylic acid transporters), member 1"", ""solute carrier family 16, member 1 (monocarboxylic acid transporter 1)"""			8124722, 7835905	Standard	NM_003051		Approved	MCT, MCT1	uc001ecy.3	P53985	OTTHUMG00000012129	ENST00000538576.1:c.612G>A	1.37:g.113460416C>T						SLC16A1_ENST00000433570.4_Silent_p.K204K|SLC16A1_ENST00000369626.3_Silent_p.K204K	p.K204K	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	4	1443	-	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)	204		K -> E (in SDLT).			Q49A45|Q5T8R6|Q9NSJ9	Silent	SNP	ENST00000538576.1	37	c.612G>A	CCDS858.1																																																																																				0.463	SLC16A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033539.1	NM_003051		14	29	0	0	0	1	0	14	29				
MTMR14	64419	broad.mit.edu	37	3	9695347	9695347	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr3:9695347G>C	ENST00000296003.4	+	2	324	c.202G>C	c.(202-204)Gac>Cac	p.D68H	MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000351233.5_Missense_Mutation_p.D68H|MTMR14_ENST00000353332.5_Missense_Mutation_p.D68H	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	68					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					GTTTGGCCGAGACTACTGTTT	0.498																																						ENST00000296003.4																			0				breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21						c.(202-204)Gac>Cac		myotubularin related protein 14							166.0	160.0	162.0					3																	9695347		1975	4173	6148	SO:0001583	missense	64419					perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chr3:9695347G>C	BC001674	CCDS43043.1, CCDS43044.1, CCDS43045.1	3p26	2011-06-09	2006-12-18	2006-12-18	ENSG00000163719	ENSG00000163719		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	26190	protein-coding gene	gene with protein product	"""egg-derived tyrosine phosphatase homolog (Drosophila)"""	611089	"""chromosome 3 open reading frame 29"""	C3orf29		15186772	Standard	NM_022485		Approved	FLJ22405, FLJ90311, hJumpy, hEDTP	uc003brz.3	Q8NCE2	OTTHUMG00000155111	ENST00000296003.4:c.202G>C	3.37:g.9695347G>C	ENSP00000296003:p.Asp68His					MTMR14_ENST00000351233.5_Missense_Mutation_p.D68H|MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000353332.5_Missense_Mutation_p.D68H	p.D68H	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN			2	324	+	Medulloblastoma(99;0.227)		68					Q0JTH5|Q0JU83|Q6PIZ4|Q6QE21|Q86VK9|Q8IYK1|Q8TCM7|Q9H6C0	Missense_Mutation	SNP	ENST00000296003.4	37	c.202G>C	CCDS43043.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.767778	0.90020	.	.	ENSG00000163719	ENST00000353332;ENST00000296003;ENST00000351233;ENST00000419048	T;T;T	0.34072	1.38;1.38;1.38	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.63745	0.2537	M	0.81942	2.565	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.998	T	0.68368	-0.5427	10	0.87932	D	0	-11.4236	17.4274	0.87530	0.0:0.0:1.0:0.0	.	68;68;68	Q8NCE2-3;Q8NCE2-2;Q8NCE2	.;.;MTMRE_HUMAN	H	68	ENSP00000323462:D68H;ENSP00000296003:D68H;ENSP00000334070:D68H	ENSP00000296003:D68H	D	+	1	0	MTMR14	9670347	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.384000	0.90160	2.650000	0.89964	0.561000	0.74099	GAC		0.498	MTMR14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338435.1	NM_022485		10	40	0	0	0	1	0	10	40				
ALDOC	230	broad.mit.edu	37	17	26902194	26902194	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:26902194C>T	ENST00000226253.4	-	3	746	c.271G>A	c.(271-273)Ggt>Agt	p.G91S	ALDOC_ENST00000395319.3_Missense_Mutation_p.G91S|RP11-192H23.5_ENST00000585189.1_RNA|ALDOC_ENST00000395321.2_Missense_Mutation_p.G91S	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN	aldolase C, fructose-bisphosphate	91					aging (GO:0007568)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|organ regeneration (GO:0031100)|protein heterotetramerization (GO:0051290)|protein homotetramerization (GO:0051289)|response to hypoxia (GO:0001666)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	cytoskeletal protein binding (GO:0008092)|fructose-bisphosphate aldolase activity (GO:0004332)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					AAGGGAACACCATTATCATCT	0.522											OREG0024278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000226253.4																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						c.(271-273)Ggt>Agt		aldolase C, fructose-bisphosphate							83.0	80.0	81.0					17																	26902194		2203	4300	6503	SO:0001583	missense	230				fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity	g.chr17:26902194C>T	AF054987	CCDS11236.1	17q11.2	2013-09-20			ENSG00000109107	ENSG00000109107	4.1.2.13		418	protein-coding gene	gene with protein product		103870					Standard	XM_005257947		Approved		uc002hbp.3	P09972	OTTHUMG00000132605	ENST00000226253.4:c.271G>A	17.37:g.26902194C>T	ENSP00000226253:p.Gly91Ser		OREG0024278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	790	ALDOC_ENST00000395321.2_Missense_Mutation_p.G91S|ALDOC_ENST00000395319.3_Missense_Mutation_p.G91S	p.G91S	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN			3	746	-	Lung NSC(42;0.00431)		91					B2R5R3|Q3SYL3|Q6FH94|Q6P0L5	Missense_Mutation	SNP	ENST00000226253.4	37	c.271G>A	CCDS11236.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.190517	0.58017	.	.	ENSG00000109107	ENST00000395319;ENST00000226253;ENST00000395321;ENST00000435638	D;D;D;D	0.95554	-3.74;-3.74;-3.74;-3.74	6.17	6.17	0.99709	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.98673	0.9555	H	0.97023	3.925	0.80722	D	1	D;D	0.67145	0.996;0.992	D;D	0.73380	0.98;0.955	D	0.99075	1.0835	10	0.87932	D	0	.	19.6509	0.95805	0.0:1.0:0.0:0.0	.	91;91	A8MVZ9;P09972	.;ALDOC_HUMAN	S	91	ENSP00000378729:G91S;ENSP00000226253:G91S;ENSP00000378731:G91S;ENSP00000398976:G91S	ENSP00000226253:G91S	G	-	1	0	ALDOC	23926321	1.000000	0.71417	0.997000	0.53966	0.969000	0.65631	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GGT		0.522	ALDOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255839.4			14	36	0	0	0	1	0	14	36				
FAM160A2	84067	broad.mit.edu	37	11	6244316	6244316	+	Silent	SNP	T	T	A	rs145608756		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:6244316T>A	ENST00000449352.2	-	4	1193	c.930A>T	c.(928-930)gtA>gtT	p.V310V	FAM160A2_ENST00000265978.4_Silent_p.V310V|FAM160A2_ENST00000524416.1_Silent_p.V310V			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	310					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTACCTGAATTACTGCATTGC	0.507																																						ENST00000265978.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(928-930)gtA>gtT		family with sequence similarity 160, member A2							111.0	116.0	115.0					11																	6244316		2201	4296	6497	SO:0001819	synonymous_variant	84067				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	g.chr11:6244316T>A		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.930A>T	11.37:g.6244316T>A						FAM160A2_ENST00000524416.1_Silent_p.V310V|FAM160A2_ENST00000449352.2_Silent_p.V310V	p.V310V	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN			4	1288	-			310					Q9C0A4|Q9H0N3|Q9H624	Silent	SNP	ENST00000449352.2	37	c.930A>T	CCDS44530.1																																																																																				0.507	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127		50	101	0	0	0	1	0	50	101				
ZNF93	81931	broad.mit.edu	37	19	20045066	20045066	+	Missense_Mutation	SNP	T	T	A	rs201361466	byFrequency	TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:20045066T>A	ENST00000343769.5	+	4	1330	c.1302T>A	c.(1300-1302)ttT>ttA	p.F434L	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	434					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						GCAAAGCCTTTGTTGCATCCT	0.413																																						ENST00000343769.5																			0				endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						c.(1300-1302)ttT>ttA		zinc finger protein 93							68.0	66.0	67.0					19																	20045066		2203	4300	6503	SO:0001583	missense	81931					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:20045066T>A	M61873	CCDS32973.1	19p12	2014-02-12	2006-05-12		ENSG00000184635	ENSG00000184635		"""Zinc fingers, C2H2-type"", ""-"""	13169	protein-coding gene	gene with protein product		603975	"""zinc finger protein 505"", ""zinc finger protein 93 (HTF34)"""	ZNF505		8467795, 2023909	Standard	NM_031218		Approved	HPF34, TF34, FLJ12488	uc002non.3	P35789	OTTHUMG00000182371	ENST00000343769.5:c.1302T>A	19.37:g.20045066T>A	ENSP00000342002:p.Phe434Leu					AC007204.2_ENST00000592245.1_lincRNA	p.F434L	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN			4	1330	+			434					A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	Missense_Mutation	SNP	ENST00000343769.5	37	c.1302T>A	CCDS32973.1	.	.	.	.	.	.	.	.	.	.	N	9.562	1.118808	0.20877	.	.	ENSG00000184635	ENST00000343769;ENST00000427325	T	0.46063	0.88	0.814	-1.63	0.08345	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42675	0.1213	M	0.78916	2.43	0.09310	N	1	D	0.56287	0.975	P	0.45406	0.479	T	0.35674	-0.9779	9	0.87932	D	0	.	4.942	0.13971	0.0:0.7264:0.0:0.2736	.	434	P35789	ZNF93_HUMAN	L	434;406	ENSP00000342002:F434L	ENSP00000342002:F434L	F	+	3	2	ZNF93	19906066	0.006000	0.16342	0.014000	0.15608	0.014000	0.08584	-0.094000	0.11094	-1.185000	0.02716	-1.185000	0.01705	TTT		0.413	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460808.2	NM_031218		32	45	0	0	0	1	0	32	45				
KCNV1	27012	broad.mit.edu	37	8	110984518	110984518	+	Silent	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr8:110984518C>A	ENST00000524391.1	-	3	1992	c.960G>T	c.(958-960)ctG>ctT	p.L320L	KCNV1_ENST00000297404.1_Silent_p.L320L|RP11-696P8.2_ENST00000530667.1_RNA			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	320					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			TTAGCATGCGCAGAGCCCTGA	0.507																																						ENST00000524391.1																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(958-960)ctG>ctT		potassium channel, subfamily V, member 1							75.0	69.0	71.0					8																	110984518		2203	4300	6503	SO:0001819	synonymous_variant	27012					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr8:110984518C>A	AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.960G>T	8.37:g.110984518C>A						KCNV1_ENST00000297404.1_Silent_p.L320L	p.L320L			Q6PIU1	KCNV1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)		3	1992	-	all_neural(195;0.219)		320					Q9UHJ4	Silent	SNP	ENST00000524391.1	37	c.960G>T	CCDS6314.1																																																																																				0.507	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385525.1	NM_014379		9	23	1	0	0.000274275	1	0.000299056	9	23				
CSN2	1447	broad.mit.edu	37	4	70823093	70823093	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:70823093G>A	ENST00000353151.3	-	5	585	c.574C>T	c.(574-576)Cct>Tct	p.P192S		NM_001891.2	NP_001882.1	P61201	CSN2_HUMAN	casein beta	0					cell proliferation (GO:0008283)|cullin deneddylation (GO:0010388)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						GCTTGAACAGGCACAGCTCTC	0.557																																						ENST00000353151.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						c.(574-576)Cct>Tct		casein beta							81.0	78.0	79.0					4																	70823093		2203	4300	6503	SO:0001583	missense	1447				calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity	g.chr4:70823093G>A	X17070	CCDS3532.1	4q21.1	2008-02-05			ENSG00000135222	ENSG00000135222			2447	protein-coding gene	gene with protein product		115460		CASB		1577486	Standard	NM_001891		Approved		uc003hes.4	P05814	OTTHUMG00000129409	ENST00000353151.3:c.574C>T	4.37:g.70823093G>A	ENSP00000341030:p.Pro192Ser						p.P192S	NM_001891.2	NP_001882.1	P05814	CASB_HUMAN			5	585	-			192					O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Missense_Mutation	SNP	ENST00000353151.3	37	c.574C>T	CCDS3532.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.109381	0.37242	.	.	ENSG00000135222	ENST00000353151	.	.	.	4.4	1.68	0.24146	.	0.139623	0.33813	N	0.004521	T	0.37489	0.1005	L	0.53561	1.675	0.09310	N	1	D	0.57571	0.98	P	0.52909	0.713	T	0.15122	-1.0448	9	0.45353	T	0.12	-12.6884	4.1269	0.10131	0.195:0.0:0.6223:0.1828	.	192	P05814	CASB_HUMAN	S	192	.	ENSP00000341030:P192S	P	-	1	0	CSN2	70857682	0.000000	0.05858	0.023000	0.16930	0.004000	0.04260	-0.532000	0.06164	0.347000	0.23924	0.650000	0.86243	CCT		0.557	CSN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251565.1			9	15	0	0	0	1	0	9	15				
RNF183	138065	broad.mit.edu	37	9	116060063	116060063	+	Silent	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:116060063C>A	ENST00000478815.1	-	1	1982	c.402G>T	c.(400-402)acG>acT	p.T134T	RNF183_ENST00000297894.5_Silent_p.T134T|RNF183_ENST00000416588.2_Silent_p.T134T|RNF183_ENST00000441031.3_Silent_p.T134T|RNF183_ENST00000478493.1_5'Flank			Q96D59	RN183_HUMAN	ring finger protein 183	134						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			lung(1)|prostate(1)|skin(1)	3						TGGCAGAGGCCGTGTCTGGGG	0.642																																						ENST00000478815.1																			0				lung(1)|prostate(1)|skin(1)	3						c.(400-402)acG>acT		ring finger protein 183							45.0	51.0	49.0					9																	116060063		1940	4132	6072	SO:0001819	synonymous_variant	138065					integral to membrane	zinc ion binding	g.chr9:116060063C>A		CCDS43866.1	9q32	2007-04-24			ENSG00000165188	ENSG00000165188		"""RING-type (C3HC4) zinc fingers"""	28721	protein-coding gene	gene with protein product						12477932	Standard	NM_145051		Approved	MGC4734	uc004bgz.3	Q96D59	OTTHUMG00000020520	ENST00000478815.1:c.402G>T	9.37:g.116060063C>A						RNF183_ENST00000441031.3_Silent_p.T134T|RNF183_ENST00000416588.2_Silent_p.T134T|RNF183_ENST00000297894.5_Silent_p.T134T	p.T134T			Q96D59	RN183_HUMAN			1	1982	-			134						Silent	SNP	ENST00000478815.1	37	c.402G>T	CCDS43866.1																																																																																				0.642	RNF183-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356360.1	NM_145051		38	30	1	0	2.04263e-09	1	2.49917e-09	38	30				
C3orf56	285311	broad.mit.edu	37	3	126916057	126916057	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr3:126916057G>T	ENST00000398112.1	+	2	769	c.529G>T	c.(529-531)Gct>Tct	p.A177S		NM_001007534.2	NP_001007535.1	Q8N813	CC056_HUMAN	chromosome 3 open reading frame 56	177										breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		ATCCAGAGGAGCTCCCTACTT	0.642																																						ENST00000398112.1																			0				breast(1)|endometrium(2)|kidney(1)|lung(5)	9						c.(529-531)Gct>Tct		chromosome 3 open reading frame 56							36.0	39.0	38.0					3																	126916057		1906	4135	6041	SO:0001583	missense	285311							g.chr3:126916057G>T	AK097460	CCDS63757.1	3q21.3	2012-08-08			ENSG00000214324	ENSG00000214324			32481	protein-coding gene	gene with protein product						14702039	Standard	NM_001007534		Approved	FLJ40141	uc003eji.1	Q8N813	OTTHUMG00000159593	ENST00000398112.1:c.529G>T	3.37:g.126916057G>T	ENSP00000381182:p.Ala177Ser						p.A177S	NM_001007534.2	NP_001007535.1				GBM - Glioblastoma multiforme(114;0.142)	2	769	+								B2RNW5	Missense_Mutation	SNP	ENST00000398112.1	37	c.529G>T		.	.	.	.	.	.	.	.	.	.	G	11.02	1.516392	0.27123	.	.	ENSG00000214324	ENST00000398112	.	.	.	1.95	1.95	0.26073	.	.	.	.	.	T	0.47002	0.1422	.	.	.	0.09310	N	1	P	0.38922	0.651	P	0.49140	0.601	T	0.39643	-0.9604	7	0.87932	D	0	.	7.4369	0.27160	0.0:0.0:1.0:0.0	.	177	Q8N813	CC056_HUMAN	S	177	.	ENSP00000381182:A177S	A	+	1	0	C3orf56	128398747	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.039000	0.13884	1.394000	0.46624	0.585000	0.79938	GCT		0.642	C3orf56-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000356354.1			29	9	1	0	1.17739e-12	1	1.52116e-12	29	9				
COL5A1	1289	broad.mit.edu	37	9	137591783	137591783	+	Silent	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:137591783C>A	ENST00000371817.3	+	3	720	c.306C>A	c.(304-306)atC>atA	p.I102I	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	102	Laminin G-like.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ACTTCTCCATCCTAACAACTG	0.587																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(304-306)atC>atA		collagen, type V, alpha 1							92.0	90.0	91.0					9																	137591783		2203	4300	6503	SO:0001819	synonymous_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137591783C>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.306C>A	9.37:g.137591783C>A						COL5A1_ENST00000464187.1_3'UTR	p.I102I	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	3	720	+		Myeloproliferative disorder(178;0.0341)	102			Laminin G-like.|TSP N-terminal.		Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	c.306C>A	CCDS6982.1																																																																																				0.587	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		18	65	1	0	0.204396	1	0.206339	18	65				
AGAP2	116986	broad.mit.edu	37	12	58131112	58131112	+	Silent	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:58131112G>A	ENST00000547588.1	-	1	917	c.918C>T	c.(916-918)acC>acT	p.T306T	AGAP2_ENST00000257897.3_Intron	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	306	Interaction with PLCG1. {ECO:0000250}.				axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						CGGAAGCAGCGGTGACAGCAG	0.677																																						ENST00000547588.1																			0				breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						c.(916-918)acC>acT		ArfGAP with GTPase domain, ankyrin repeat and PH domain 2							42.0	59.0	54.0					12																	58131112		1568	3582	5150	SO:0001819	synonymous_variant	116986				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr12:58131112G>A	AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16921	protein-coding gene	gene with protein product		605476	"""centaurin, gamma 1"""	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.918C>T	12.37:g.58131112G>A						AGAP2_ENST00000257897.3_Intron	p.T306T	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN			1	917	-			306			Interaction with PLCG1 (By similarity).		A8K9F7|O00578|Q548E0|Q8IWU3	Silent	SNP	ENST00000547588.1	37	c.918C>T	CCDS44932.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.562242	0.00903	.	.	ENSG00000135439	ENST00000328568	.	.	.	4.83	0.519	0.17035	.	.	.	.	.	T	0.24470	0.0593	.	.	.	0.25503	N	0.987537	.	.	.	.	.	.	T	0.25117	-1.0141	4	.	.	.	.	4.8407	0.13489	0.2601:0.2898:0.4501:0.0	.	.	.	.	C	170	.	.	R	-	1	0	AGAP2	56417379	0.983000	0.35010	0.820000	0.32676	0.039000	0.13416	0.178000	0.16820	-0.113000	0.11958	-0.474000	0.04947	CGC		0.677	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408367.1	NM_014770		26	28	0	0	0	1	0	26	28				
ADCY8	114	broad.mit.edu	37	8	131861907	131861907	+	Silent	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr8:131861907G>T	ENST00000286355.5	-	10	4445	c.2353C>A	c.(2353-2355)Cgg>Agg	p.R785R	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	785					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)			ATGACGTTCCGGGCCAAATAG	0.468										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.(2353-2355)Cgg>Agg		adenylate cyclase 8 (brain)							127.0	119.0	122.0					8																	131861907		2203	4300	6503	SO:0001819	synonymous_variant	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.chr8:131861907G>T	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.2353C>A	8.37:g.131861907G>T		HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Intron	p.R785R	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		10	4445	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		785						Silent	SNP	ENST00000286355.5	37	c.2353C>A	CCDS6363.1																																																																																				0.468	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			20	40	1	0	3.62473e-10	1	4.50757e-10	20	40				
SLC25A25	114789	broad.mit.edu	37	9	130865985	130865985	+	Missense_Mutation	SNP	C	C	G	rs370988341		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:130865985C>G	ENST00000373064.5	+	5	775	c.512C>G	c.(511-513)aCg>aGg	p.T171R	SLC25A25_ENST00000432073.2_Missense_Mutation_p.T191R|SLC25A25_ENST00000373068.2_Missense_Mutation_p.T205R|SLC25A25_ENST00000373069.5_Missense_Mutation_p.T217R|SLC25A25_ENST00000433501.1_Missense_Mutation_p.T68R|SLC25A25_ENST00000373066.5_Missense_Mutation_p.T203R	NM_052901.4	NP_443133.2	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	171					adipose tissue development (GO:0060612)|ATP metabolic process (GO:0046034)|calcium ion transmembrane transport (GO:0070588)|camera-type eye development (GO:0043010)|cellular respiration (GO:0045333)|multicellular organism growth (GO:0035264)|response to activity (GO:0014823)|response to dietary excess (GO:0002021)|response to food (GO:0032094)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						GAGAATCTAACGGTCCCGGAT	0.602																																						ENST00000373066.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						c.(607-609)aCg>aGg		solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25							95.0	91.0	93.0					9																	130865985		2203	4300	6503	SO:0001583	missense	114789				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	g.chr9:130865985C>G	AJ619963	CCDS6890.1, CCDS35151.1, CCDS48031.1, CCDS59146.1	9q34	2013-05-22			ENSG00000148339	ENSG00000148339		"""Solute carriers"", ""EF-hand domain containing"""	20663	protein-coding gene	gene with protein product		608745				15123600	Standard	NM_052901		Approved	KIAA1896, PCSCL, MCSC	uc004btb.4	Q6KCM7	OTTHUMG00000020736	ENST00000373064.5:c.512C>G	9.37:g.130865985C>G	ENSP00000362155:p.Thr171Arg					SLC25A25_ENST00000433501.1_Missense_Mutation_p.T68R|SLC25A25_ENST00000432073.2_Missense_Mutation_p.T191R|SLC25A25_ENST00000373068.2_Missense_Mutation_p.T205R|SLC25A25_ENST00000373069.5_Missense_Mutation_p.T217R|SLC25A25_ENST00000373064.5_Missense_Mutation_p.T171R	p.T203R	NM_001265614.2	NP_001252543.1	Q6KCM7	SCMC2_HUMAN			6	1015	+			171					Q5SYW7|Q5SYW8|Q5SYX3|Q5VWU2|Q5VWU3|Q5VWU4|Q6KCM4|Q6KCM6|Q6UX48|Q705K2|Q96PZ1|Q9BSA6	Missense_Mutation	SNP	ENST00000373064.5	37	c.608C>G	CCDS6890.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.179895	0.57800	.	.	ENSG00000148339	ENST00000373068;ENST00000373069;ENST00000432073;ENST00000373066;ENST00000373064;ENST00000433501	T;T;T;T;T;T	0.80123	0.93;0.93;-1.1;-1.34;-1.07;-1.21	5.7	5.7	0.88788	.	0.294619	0.38605	N	0.001638	D	0.85234	0.5650	L	0.54323	1.7	0.44652	D	0.997637	P;P;P;D	0.58970	0.778;0.952;0.628;0.984	B;P;P;D	0.63381	0.414;0.783;0.783;0.914	D	0.84852	0.0814	10	0.49607	T	0.09	-21.8454	12.1861	0.54239	0.0:0.9227:0.0:0.0773	.	171;203;191;205	Q6KCM7;Q6KCM7-5;Q6KCM7-4;Q6KCM7-2	SCMC2_HUMAN;.;.;.	R	205;217;191;203;171;68	ENSP00000362159:T205R;ENSP00000362160:T217R;ENSP00000410053:T191R;ENSP00000362157:T203R;ENSP00000362155:T171R;ENSP00000401672:T68R	ENSP00000362155:T171R	T	+	2	0	SLC25A25	129905806	1.000000	0.71417	0.964000	0.40570	0.463000	0.32649	4.578000	0.60929	2.688000	0.91661	0.655000	0.94253	ACG		0.602	SLC25A25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054407.1	NM_052901		4	83	0	0	0	1	0	4	83				
PRB2	653247	broad.mit.edu	37	12	11546454	11546454	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:11546454T>A	ENST00000389362.4	-	3	593	c.558A>T	c.(556-558)caA>caT	p.Q186H	PRB2_ENST00000545829.1_5'Flank|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	186	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGTTGCCTCCTTGTGGGGGTG	0.607																																						ENST00000389362.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(556-558)caA>caT		proline-rich protein BstNI subfamily 2							161.0	159.0	160.0					12																	11546454		2164	4276	6440	SO:0001583	missense	653247							g.chr12:11546454T>A	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.558A>T	12.37:g.11546454T>A	ENSP00000374013:p.Gln186His					PRB1_ENST00000546254.1_Intron	p.Q186H	NM_006248.3	NP_006239.3			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	593	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	Missense_Mutation	SNP	ENST00000389362.4	37	c.558A>T	CCDS41757.2	.	.	.	.	.	.	.	.	.	.	.	3.462	-0.109667	0.06924	.	.	ENSG00000121335	ENST00000389362	T	0.07908	3.15	1.56	1.56	0.23342	.	1.194720	0.06950	U	0.814434	T	0.09468	0.0233	M	0.63843	1.955	0.09310	N	1	D	0.53462	0.96	B	0.41299	0.353	T	0.33599	-0.9862	10	0.23891	T	0.37	.	4.8256	0.13414	0.0:0.0:0.3205:0.6795	.	186	P02812	PRB2_HUMAN	H	186	ENSP00000374013:Q186H	ENSP00000374013:Q186H	Q	-	3	2	PRB2	11437721	0.002000	0.14202	0.011000	0.14972	0.470000	0.32858	0.140000	0.16056	0.681000	0.31386	0.234000	0.17832	CAA		0.607	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		6	365	0	0	0	1	0	6	365				
TTN	7273	broad.mit.edu	37	2	179475027	179475027	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:179475027C>A	ENST00000591111.1	-	221	46527	c.46303G>T	c.(46303-46305)Gga>Tga	p.G15435*	TTN_ENST00000342992.6_Nonsense_Mutation_p.G14508*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.G8136*|TTN_ENST00000460472.2_Nonsense_Mutation_p.G8011*|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.G8203*|TTN_ENST00000589042.1_Nonsense_Mutation_p.G17076*			Q8WZ42	TITIN_HUMAN	titin	15435	Fibronectin type-III 12. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			ATTGGGGTTCCACCATCAAAT	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.(51226-51228)Gga>Tga		titin							151.0	148.0	149.0					2																	179475027		1883	4108	5991	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179475027C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.46303G>T	2.37:g.179475027C>A	ENSP00000465570:p.Gly15435*					TTN_ENST00000359218.5_Nonsense_Mutation_p.G8136*|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.G8203*|TTN_ENST00000591111.1_Nonsense_Mutation_p.G15435*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.G8011*|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.G14508*|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA	p.G17076*	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)		271	51450	-			15435			Ig-like 102.		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	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.51226G>T		.	.	.	.	.	.	.	.	.	.	C	60	40.181520	0.99985	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.3205	0.66484	0.0:0.9296:0.0:0.0704	.	.	.	.	X	14508;8011;8203;8136;8011	.	ENSP00000340554:G8203X	G	-	1	0	TTN	179183272	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.039000	0.70972	2.760000	0.94817	0.655000	0.94253	GGA		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		14	105	1	0	3.27435e-08	1	3.89839e-08	14	105				
PODN	127435	broad.mit.edu	37	1	53535790	53535790	+	Missense_Mutation	SNP	G	G	T	rs201199782		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:53535790G>T	ENST00000312553.5	+	2	414	c.407G>T	c.(406-408)cGt>cTt	p.R136L	PODN_ENST00000395871.2_Missense_Mutation_p.R136L|PODN_ENST00000371500.3_Missense_Mutation_p.R117L|RP11-334A14.5_ENST00000447867.1_RNA	NM_001199081.1|NM_153703.4	NP_001186010.1|NP_714914.2	Q7Z5L7	PODN_HUMAN	podocan	88					negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)	p.R136L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ATTGACCTGCGTGAGTTCCCG	0.677																																						ENST00000371500.3																			1	Substitution - Missense(1)	p.R136L(1)	kidney(1)	breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(349-351)cGt>cTt		podocan							80.0	64.0	69.0					1																	53535790		2203	4300	6503	SO:0001583	missense	127435				negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding	g.chr1:53535790G>T	AY313607	CCDS573.1, CCDS55601.1, CCDS55602.1	1p32.3	2008-02-05			ENSG00000174348	ENSG00000174348		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	23174	protein-coding gene	gene with protein product	"""podocan proteoglycan"""	608661					Standard	NM_153703		Approved	PCAN, PODOCAN, MGC24995, SLRR5A	uc010onr.2	Q7Z5L7	OTTHUMG00000008934	ENST00000312553.5:c.407G>T	1.37:g.53535790G>T	ENSP00000308315:p.Arg136Leu					PODN_ENST00000395871.2_Missense_Mutation_p.R136L|PODN_ENST00000312553.5_Missense_Mutation_p.R136L|RP11-334A14.5_ENST00000447867.1_RNA	p.R117L	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN			4	691	+			88					B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	Missense_Mutation	SNP	ENST00000312553.5	37	c.350G>T	CCDS573.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.082602	0.55861	.	.	ENSG00000174348	ENST00000371500;ENST00000395871;ENST00000312553	T;T;T	0.24151	3.65;1.87;2.25	4.82	4.82	0.62117	.	1.277270	0.05151	N	0.496066	T	0.31575	0.0801	L	0.38838	1.175	0.37345	D	0.910573	P;P;P	0.42871	0.622;0.792;0.668	P;B;B	0.44673	0.457;0.361;0.343	T	0.07731	-1.0757	10	0.51188	T	0.08	.	13.2558	0.60079	0.0:0.0:1.0:0.0	.	136;117;136	Q7Z5L7-4;Q7Z5L7-2;Q7Z5L7-3	.;.;.	L	117;136;136	ENSP00000360555:R117L;ENSP00000379212:R136L;ENSP00000308315:R136L	ENSP00000308315:R136L	R	+	2	0	PODN	53308378	0.986000	0.35501	0.969000	0.41365	0.992000	0.81027	2.728000	0.47319	2.509000	0.84616	0.561000	0.74099	CGT		0.677	PODN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024735.1	NM_153703		20	41	1	0	0.00229938	1	0.00243706	20	41				
HIST1H1C	3006	broad.mit.edu	37	6	26056301	26056301	+	Missense_Mutation	SNP	T	T	C	rs374398098		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:26056301T>C	ENST00000343677.2	-	1	398	c.356A>G	c.(355-357)aAg>aGg	p.K119R		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	119					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						CTTTTTAACCTTGGGCTTGGC	0.582																																						ENST00000343677.2																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						c.(355-357)aAg>aGg		histone cluster 1, H1c							65.0	75.0	72.0					6																	26056301		2203	4300	6503	SO:0001583	missense	3006				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26056301T>C	X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"""Histones / Replication-dependent"""	4716	protein-coding gene	gene with protein product		142710	"""H1 histone family, member 2"", ""histone 1, H1c"""	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.356A>G	6.37:g.26056301T>C	ENSP00000339566:p.Lys119Arg						p.K119R	NM_005319.3	NP_005310.1	P16403	H12_HUMAN			1	398	-			119					A8K4I2	Missense_Mutation	SNP	ENST00000343677.2	37	c.356A>G	CCDS4577.1	.	.	.	.	.	.	.	.	.	.	T	8.708	0.911242	0.17833	.	.	ENSG00000187837	ENST00000343677	T	0.16457	2.34	5.54	4.36	0.52297	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.578107	0.15779	N	0.245009	T	0.06690	0.0171	L	0.43923	1.385	0.19775	N	0.999955	B	0.20671	0.047	B	0.21708	0.036	T	0.25117	-1.0141	10	0.42905	T	0.14	-2.2897	11.8343	0.52314	0.0:0.0:0.4136:0.5864	.	119	P16403	H12_HUMAN	R	119	ENSP00000339566:K119R	ENSP00000339566:K119R	K	-	2	0	HIST1H1C	26164280	1.000000	0.71417	0.774000	0.31636	0.011000	0.07611	3.855000	0.55957	1.023000	0.39654	0.533000	0.62120	AAG		0.582	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043372.1	NM_005319		33	69	0	0	0	1	0	33	69				
SLC41A1	254428	broad.mit.edu	37	1	205779303	205779303	+	Silent	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:205779303G>A	ENST00000367137.3	-	2	1281	c.267C>T	c.(265-267)tcC>tcT	p.S89S		NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	89					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			CCTTGAGCGGGGAAGGTGGCG	0.622																																						ENST00000367137.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(265-267)tcC>tcT		solute carrier family 41 (magnesium transporter), member 1							149.0	130.0	137.0					1																	205779303		2203	4300	6503	SO:0001819	synonymous_variant	254428					integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity	g.chr1:205779303G>A	AJ514402	CCDS30988.1	1q32.1	2013-07-17	2013-07-17		ENSG00000133065	ENSG00000133065		"""Solute carriers"""	19429	protein-coding gene	gene with protein product		610801				12810078, 18367447	Standard	NM_173854		Approved	MgtE	uc001hdh.1	Q8IVJ1	OTTHUMG00000036000	ENST00000367137.3:c.267C>T	1.37:g.205779303G>A							p.S89S	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0252)		2	1281	-	Breast(84;0.0799)		89					Q63HJ4|Q658Z5|Q659A4|Q6MZK2	Silent	SNP	ENST00000367137.3	37	c.267C>T	CCDS30988.1																																																																																				0.622	SLC41A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087731.1			27	39	0	0	0	1	0	27	39				
SLC30A10	55532	broad.mit.edu	37	1	220091794	220091794	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:220091794A>G	ENST00000366926.3	-	3	922	c.761T>C	c.(760-762)gTt>gCt	p.V254A	SLC30A10_ENST00000536446.1_Missense_Mutation_p.V9A|SLC30A10_ENST00000484079.1_5'UTR	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	254	Poly-Val.				zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		GATGACCACAACCACGGACCC	0.527																																					Colon(76;360 1614 43677 51136)	ENST00000366926.3																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13						c.(760-762)gTt>gCt		solute carrier family 30, member 10							158.0	140.0	146.0					1																	220091794		2203	4300	6503	SO:0001583	missense	55532				zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity	g.chr1:220091794A>G	AY212919	CCDS31026.1	1q41	2013-05-22			ENSG00000196660	ENSG00000196660		"""Solute carriers"""	25355	protein-coding gene	gene with protein product	"""zinc transporter 8"""	611146				15154973	Standard	NR_046437		Approved	DKFZp547M236, ZnT-10, ZRC1, ZNT8	uc001hlw.3	Q6XR72	OTTHUMG00000037434	ENST00000366926.3:c.761T>C	1.37:g.220091794A>G	ENSP00000355893:p.Val254Ala					SLC30A10_ENST00000484079.1_5'UTR|SLC30A10_ENST00000536446.1_Missense_Mutation_p.V9A	p.V254A	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN		GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)	3	922	-			254			Poly-Val.		Q49AL9|Q9NPW0	Missense_Mutation	SNP	ENST00000366926.3	37	c.761T>C	CCDS31026.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.659866	0.88154	.	.	ENSG00000196660	ENST00000366926;ENST00000536446	T;T	0.62232	0.04;0.04	6.08	6.08	0.98989	.	0.288241	0.32736	N	0.005717	T	0.52273	0.1724	N	0.11673	0.155	0.80722	D	1	D	0.53151	0.958	P	0.49421	0.61	T	0.53718	-0.8399	9	.	.	.	-8.0801	16.6512	0.85203	1.0:0.0:0.0:0.0	.	254	Q6XR72	ZNT10_HUMAN	A	254;9	ENSP00000355893:V254A;ENSP00000439489:V9A	.	V	-	2	0	SLC30A10	218158417	1.000000	0.71417	0.983000	0.44433	0.978000	0.69477	7.217000	0.77982	2.333000	0.79357	0.482000	0.46254	GTT		0.527	SLC30A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357709.1	NM_018713		25	64	0	0	0	1	0	25	64				
GNAL	2774	broad.mit.edu	37	18	11872270	11872270	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr18:11872270G>A	ENST00000423027.3	+	10	1125	c.804G>A	c.(802-804)tgG>tgA	p.W268*	GNAL_ENST00000535121.1_Nonsense_Mutation_p.W268*|GNAL_ENST00000334049.6_Nonsense_Mutation_p.W345*|GNAL_ENST00000602628.1_Nonsense_Mutation_p.W61*|GNAL_ENST00000269162.5_Nonsense_Mutation_p.W268*			P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	268					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|response to amphetamine (GO:0001975)|response to caffeine (GO:0031000)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						TTTTTAGGTGGTTACGGACCA	0.333																																						ENST00000334049.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						c.(1033-1035)tgG>tgA		guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type							114.0	118.0	116.0					18																	11872270		2203	4300	6503	SO:0001587	stop_gained	2774				activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr18:11872270G>A	AF493893	CCDS11851.1, CCDS11852.1, CCDS58614.1	18p11.22-p11.21	2003-12-17			ENSG00000141404	ENSG00000141404			4388	protein-coding gene	gene with protein product		139312				1302014	Standard	NM_182978		Approved		uc002kqc.3	P38405	OTTHUMG00000131660	ENST00000423027.3:c.804G>A	18.37:g.11872270G>A	ENSP00000408489:p.Trp268*					GNAL_ENST00000535121.1_Nonsense_Mutation_p.W268*|GNAL_ENST00000535980.1_3'UTR|GNAL_ENST00000423027.3_Nonsense_Mutation_p.W268*|GNAL_ENST00000269162.5_Nonsense_Mutation_p.W268*|GNAL_ENST00000602628.1_Nonsense_Mutation_p.W61*	p.W345*	NM_182978.3	NP_892023.1	P38405	GNAL_HUMAN			10	1643	+			268					B7ZA26|Q86XU3	Nonsense_Mutation	SNP	ENST00000423027.3	37	c.1035G>A	CCDS11852.1	.	.	.	.	.	.	.	.	.	.	G	38	6.812670	0.97857	.	.	ENSG00000141404	ENST00000540217;ENST00000334049;ENST00000535121;ENST00000269162;ENST00000423027;ENST00000535980	.	.	.	5.41	5.41	0.78517	.	0.102120	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.5608	0.95371	0.0:0.0:1.0:0.0	.	.	.	.	X	207;345;268;268;268;61	.	ENSP00000269162:W268X	W	+	3	0	GNAL	11862270	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.265000	0.78442	2.698000	0.92095	0.561000	0.74099	TGG		0.333	GNAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254561.2	NM_182978, NM_002071		19	78	0	0	0	1	0	19	78				
NAV2	89797	broad.mit.edu	37	11	19914117	19914117	+	Missense_Mutation	SNP	C	C	T	rs145926987		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:19914117C>T	ENST00000396087.3	+	7	1076	c.977C>T	c.(976-978)cCa>cTa	p.P326L	NAV2_ENST00000540292.1_Missense_Mutation_p.P257L|NAV2_ENST00000360655.4_Missense_Mutation_p.P239L|NAV2_ENST00000349880.4_Missense_Mutation_p.P303L|NAV2_ENST00000527559.2_Missense_Mutation_p.P255L|NAV2_ENST00000396085.1_Missense_Mutation_p.P303L	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	326	Poly-Pro.				glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TCCCCACCCCCACCGCCAAGC	0.517																																						ENST00000396085.1																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(907-909)cCa>cTa		neuron navigator 2							79.0	68.0	71.0					11																	19914117		2199	4293	6492	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:19914117C>T	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.977C>T	11.37:g.19914117C>T	ENSP00000379396:p.Pro326Leu					NAV2_ENST00000349880.4_Missense_Mutation_p.P303L|NAV2_ENST00000527559.2_Missense_Mutation_p.P255L|NAV2_ENST00000360655.4_Missense_Mutation_p.P239L|NAV2_ENST00000540292.1_Missense_Mutation_p.P257L|NAV2_ENST00000396087.3_Missense_Mutation_p.P326L	p.P303L	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			6	1269	+			326					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.908C>T	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	C	3.235	-0.156677	0.06544	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.27256	1.68;1.79;1.79;1.81;1.7;1.7	5.94	4.85	0.62838	.	0.336293	0.25458	N	0.030535	T	0.19446	0.0467	L	0.36672	1.1	0.44345	D	0.997239	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.03503	-1.1030	9	.	.	.	.	11.4385	0.50083	0.0:0.8625:0.0:0.1375	.	303;239	Q8IVL1-3;Q8IVL1-4	.;.	L	239;303;303;326;255;257	ENSP00000353871:P239L;ENSP00000379394:P303L;ENSP00000309577:P303L;ENSP00000379396:P326L;ENSP00000435395:P255L;ENSP00000443489:P257L	.	P	+	2	0	NAV2	19870693	0.118000	0.22208	0.666000	0.29783	0.740000	0.42216	1.510000	0.35790	2.824000	0.97209	0.650000	0.86243	CCA		0.517	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		12	24	0	0	0	1	0	12	24				
APOA4	337	broad.mit.edu	37	11	116692027	116692027	+	Silent	SNP	G	G	A	rs558924435		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:116692027G>A	ENST00000357780.3	-	3	861	c.747C>T	c.(745-747)gcC>gcT	p.A249A		NM_000482.3	NP_000473.2	P06727	APOA4_HUMAN	apolipoprotein A-IV	249	13 X 22 AA approximate tandem repeats.				cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron assembly (GO:0034378)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle remodeling (GO:0034375)|hydrogen peroxide catabolic process (GO:0042744)|innate immune response in mucosa (GO:0002227)|leukocyte cell-cell adhesion (GO:0007159)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|multicellular organismal lipid catabolic process (GO:0044240)|negative regulation of plasma lipoprotein particle oxidation (GO:0034445)|phosphatidylcholine metabolic process (GO:0046470)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|protein-lipid complex assembly (GO:0065005)|regulation of cholesterol transport (GO:0032374)|regulation of intestinal cholesterol absorption (GO:0030300)|removal of superoxide radicals (GO:0019430)|response to lipid hydroperoxide (GO:0006982)|response to stilbenoid (GO:0035634)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	antioxidant activity (GO:0016209)|cholesterol transporter activity (GO:0017127)|copper ion binding (GO:0005507)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		TGAGCTCCTCGGCGTTCTTCT	0.657																																						ENST00000357780.3																			0				cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(745-747)gcC>gcT		apolipoprotein A-IV							70.0	73.0	72.0					11																	116692027		2201	4292	6493	SO:0001819	synonymous_variant	337							g.chr11:116692027G>A		CCDS31681.1	11q23.3	2013-01-24			ENSG00000110244	ENSG00000110244		"""Apolipoproteins"""	602	protein-coding gene	gene with protein product		107690					Standard	NM_000482		Approved		uc001pps.1	P06727	OTTHUMG00000046110	ENST00000357780.3:c.747C>T	11.37:g.116692027G>A							p.A249A	NM_000482.3	NP_000473.2				BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)	3	861	-	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)						A8MSL6|Q14CW8|Q6Q787	Silent	SNP	ENST00000357780.3	37	c.747C>T	CCDS31681.1																																																																																				0.657	APOA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106279.2	NM_000482		28	40	0	0	0	1	0	28	40				
TXNDC2	84203	broad.mit.edu	37	18	9887311	9887311	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr18:9887311C>A	ENST00000306084.6	+	2	1034	c.835C>A	c.(835-837)Ccc>Acc	p.P279T	TXNDC2_ENST00000357775.5_Missense_Mutation_p.P212T|TXNDC2_ENST00000536353.2_Intron	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	279	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GCCCAGCCAGCCCAAGGAGGG	0.602																																						ENST00000306084.6																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(835-837)Ccc>Acc		thioredoxin domain containing 2 (spermatozoa)							125.0	123.0	124.0					18																	9887311		2203	4300	6503	SO:0001583	missense	84203				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9887311C>A	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.835C>A	18.37:g.9887311C>A	ENSP00000304908:p.Pro279Thr					TXNDC2_ENST00000357775.4_Missense_Mutation_p.P212T|TXNDC2_ENST00000536353.2_Intron	p.P279T	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	1034	+			279			22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	c.835C>A	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	C	8.864	0.947581	0.18356	.	.	ENSG00000168454	ENST00000357775;ENST00000306084;ENST00000426718	T;T	0.16324	2.35;2.35	3.4	-1.77	0.07982	.	1.991840	0.02358	N	0.076638	T	0.15522	0.0374	L	0.52011	1.625	0.09310	N	1	P	0.43231	0.801	B	0.37780	0.258	T	0.24119	-1.0169	9	.	.	.	-0.6136	4.9348	0.13935	0.0:0.3092:0.1641:0.5267	.	279	Q86VQ3	TXND2_HUMAN	T	212;279;279	ENSP00000350419:P212T;ENSP00000304908:P279T	.	P	+	1	0	TXNDC2	9877311	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.187000	0.03067	-0.508000	0.06540	0.549000	0.68633	CCC		0.602	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			44	146	1	0	3.4587e-08	1	4.10866e-08	44	146				
TNS3	64759	broad.mit.edu	37	7	47440030	47440030	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:47440030C>A	ENST00000398879.1	-	15	1245	c.879G>T	c.(877-879)aaG>aaT	p.K293N	TNS3_ENST00000311160.9_Missense_Mutation_p.K293N|TNS3_ENST00000355730.3_Intron			Q68CZ2	TENS3_HUMAN	tensin 3	293	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CTAATTCAACCTTCCCATAGT	0.428																																						ENST00000398879.1																			0				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						c.(877-879)aaG>aaT		tensin 3							76.0	74.0	75.0					7																	47440030		1968	4150	6118	SO:0001583	missense	64759					focal adhesion	protein binding	g.chr7:47440030C>A	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.879G>T	7.37:g.47440030C>A	ENSP00000381854:p.Lys293Asn					TNS3_ENST00000355730.3_Intron|TNS3_ENST00000311160.9_Missense_Mutation_p.K293N	p.K293N			Q68CZ2	TENS3_HUMAN			15	1245	-			293			C2 tensin-type.		B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	c.879G>T	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	C	20.3	3.960972	0.74016	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000457718;ENST00000450444	D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17	5.29	4.38	0.52667	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.330632	0.31784	N	0.007074	D	0.89556	0.6749	M	0.71581	2.175	0.80722	D	1	D	0.63880	0.993	P	0.58620	0.842	D	0.87817	0.2635	10	0.44086	T	0.13	-39.0192	6.7597	0.23534	0.0:0.7726:0.0:0.2274	.	293	Q68CZ2	TENS3_HUMAN	N	293;403;293;396;382	ENSP00000312143:K293N;ENSP00000381854:K293N;ENSP00000414358:K396N;ENSP00000396914:K382N	ENSP00000312143:K293N	K	-	3	2	TNS3	47406555	0.987000	0.35691	0.992000	0.48379	0.994000	0.84299	0.379000	0.20585	1.128000	0.42052	0.655000	0.94253	AAG		0.428	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		8	37	1	0	1.76689e-08	1	2.11788e-08	8	37				
TRIM38	10475	broad.mit.edu	37	6	25983648	25983648	+	Silent	SNP	G	G	A	rs199895933		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:25983648G>A	ENST00000357085.3	+	8	1607	c.1131G>A	c.(1129-1131)gaG>gaA	p.E377E	TRIM38_ENST00000349458.3_Silent_p.E377E|U91328.21_ENST00000608931.1_RNA	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	377	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of defense response to virus (GO:0050687)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of viral entry into host cell (GO:0046598)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of interferon-beta production (GO:0032648)|signal transduction (GO:0007165)	intracellular (GO:0005622)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						TGAAGCAAGAGCCTCAGTCTG	0.507																																						ENST00000357085.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						c.(1129-1131)gaG>gaA		tripartite motif containing 38							117.0	118.0	118.0					6																	25983648		2203	4300	6503	SO:0001819	synonymous_variant	10475				positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding	g.chr6:25983648G>A	U90547	CCDS4568.1	6p21.3	2011-04-20	2011-01-25	2002-06-07	ENSG00000112343	ENSG00000112343		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10059	protein-coding gene	gene with protein product			"""ring finger protein 15"", ""tripartite motif-containing 38"""	RNF15			Standard	XR_241880		Approved	RORET	uc003nfm.4	O00635	OTTHUMG00000014414	ENST00000357085.3:c.1131G>A	6.37:g.25983648G>A						TRIM38_ENST00000349458.3_Silent_p.E377E	p.E377E	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN			8	1607	+			377			B30.2/SPRY.		B2R862	Silent	SNP	ENST00000357085.3	37	c.1131G>A	CCDS4568.1																																																																																				0.507	TRIM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040076.2			30	43	0	0	0	1	0	30	43				
CCT6P3	643180	broad.mit.edu	37	7	64498797	64498797	+	RNA	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:64498797G>C	ENST00000426828.1	+	0	60					NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		GGTGGGAGCGGGTGGCCCGGT	0.726																																						ENST00000426828.1																			0																																																			643180							g.chr7:64498797G>C			7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64498797G>C								NR_033416.1						0	60	+									RNA	SNP	ENST00000426828.1	37																																																																																						0.726	CCT6P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344862.1			5	18	0	0	0	1	0	5	18				
IGKV1D-43	28891	broad.mit.edu	37	2	90249393	90249393	+	RNA	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:90249393C>T	ENST00000468879.1	+	0	530									immunoglobulin kappa variable 1D-43																		TTATAGTACCCCTCCCACAGT	0.517																																						ENST00000468879.1																			0																				142.0	126.0	131.0					2																	90249393		1875	4106	5981			28891							g.chr2:90249393C>T	X72817		2p11.2	2012-10-03			ENSG00000242580	ENSG00000242580		"""Immunoglobulins / IGK locus"""	5758	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151572		2.37:g.90249393C>T														0	530	+									RNA	SNP	ENST00000468879.1	37																																																																																						0.517	IGKV1D-43-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323147.2	NG_000833		70	183	0	0	0	1	0	70	183				
USP42	84132	broad.mit.edu	37	7	6189454	6189454	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:6189454A>G	ENST00000306177.5	+	13	1785	c.1627A>G	c.(1627-1629)Agt>Ggt	p.S543G		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	543					cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		TAACCTTCATAGTAATTCTTT	0.433																																						ENST00000306177.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(1627-1629)Agt>Ggt		ubiquitin specific peptidase 42							113.0	109.0	110.0					7																	6189454		1888	4114	6002	SO:0001583	missense	84132				cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr7:6189454A>G	AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"""Ubiquitin-specific peptidases"""	20068	protein-coding gene	gene with protein product			"""ubiquitin specific protease 42"""			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.1627A>G	7.37:g.6189454A>G	ENSP00000301962:p.Ser543Gly						p.S543G	NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)	13	1785	+		Ovarian(82;0.0423)	543					A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Missense_Mutation	SNP	ENST00000306177.5	37	c.1627A>G	CCDS47535.1	.	.	.	.	.	.	.	.	.	.	A	5.307	0.242101	0.10077	.	.	ENSG00000106346	ENST00000306177;ENST00000426246	T;T	0.14766	2.48;2.89	5.93	-0.555	0.11807	.	0.917518	0.09492	N	0.794848	T	0.07999	0.0200	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.09022	0.002;0.001;0.001;0.0	B;B;B;B	0.08055	0.002;0.003;0.001;0.0	T	0.44019	-0.9355	10	0.18276	T	0.48	.	7.004	0.24826	0.5456:0.1163:0.3381:0.0	.	506;543;543;543	A4D2N7;Q9H9J4-2;Q9H9J4;A4D2N6	.;.;UBP42_HUMAN;.	G	543;389	ENSP00000301962:S543G;ENSP00000408217:S389G	ENSP00000301962:S543G	S	+	1	0	USP42	6155980	0.016000	0.18221	0.001000	0.08648	0.306000	0.27790	2.070000	0.41491	-0.307000	0.08804	0.482000	0.46254	AGT		0.433	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324262.3	XM_166526		21	42	0	0	0	1	0	21	42				
CFHR5	81494	broad.mit.edu	37	1	196964875	196964875	+	Silent	SNP	T	T	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:196964875T>C	ENST00000256785.4	+	5	745	c.636T>C	c.(634-636)ccT>ccC	p.P212P	CFHR5_ENST00000367414.5_Silent_p.P236P			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	212	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						GTCCACCTCCTCAACTCTCCA	0.328																																						ENST00000367414.5																			0				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						c.(706-708)ccT>ccC		complement factor H-related 5							102.0	103.0	103.0					1																	196964875		2203	4299	6502	SO:0001819	synonymous_variant	81494				complement activation, alternative pathway	extracellular region		g.chr1:196964875T>C	AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.636T>C	1.37:g.196964875T>C						CFHR5_ENST00000256785.4_Silent_p.P212P	p.P236P	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN			5	764	+			212			Sushi 4.		Q2NKK2	Silent	SNP	ENST00000256785.4	37	c.708T>C	CCDS1387.1																																																																																				0.328	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787		12	19	0	0	0	1	0	12	19				
MYEF2	50804	broad.mit.edu	37	15	48443749	48443749	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr15:48443749C>A	ENST00000324324.7	-	13	1506	c.1227G>T	c.(1225-1227)atG>atT	p.M409I	MYEF2_ENST00000267836.6_Missense_Mutation_p.M409I	NM_016132.3	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	409	Gly-rich.				myotube differentiation (GO:0014902)|neuron differentiation (GO:0030182)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		TGCTACTAGTCATCGCACCAC	0.383																																						ENST00000324324.7																			0				endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1225-1227)atG>atT		myelin expression factor 2							222.0	227.0	225.0					15																	48443749		2198	4297	6495	SO:0001583	missense	50804				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding	g.chr15:48443749C>A	AB037762	CCDS32230.1, CCDS73722.1	15q15.1	2013-07-16				ENSG00000104177		"""RNA binding motif (RRM) containing"""	17940	protein-coding gene	gene with protein product						10718198, 2601707	Standard	XM_005254422		Approved	MEF-2, FLJ11213, KIAA1341, HsT18564	uc001zwi.4	Q9P2K5		ENST00000324324.7:c.1227G>T	15.37:g.48443749C>A	ENSP00000316950:p.Met409Ile					MYEF2_ENST00000267836.6_Missense_Mutation_p.M409I	p.M409I	NM_016132.3	NP_057216.2	Q9P2K5	MYEF2_HUMAN		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)	13	1506	-		all_lung(180;0.00217)	409			Gly-rich.		A7MCZ9|C9J921|C9K0J4|Q6NUM5|Q7L388|Q7Z4B7|Q9H922|Q9NUQ1	Missense_Mutation	SNP	ENST00000324324.7	37	c.1227G>T	CCDS32230.1	.	.	.	.	.	.	.	.	.	.	C	14.36	2.513523	0.44763	.	.	ENSG00000104177	ENST00000324324;ENST00000267836;ENST00000454655	T;T	0.20881	2.59;2.04	5.59	5.59	0.84812	.	0.188361	0.64402	D	0.000004	T	0.25680	0.0625	M	0.64404	1.975	0.58432	D	0.999996	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.002	T	0.09796	-1.0658	10	0.15952	T	0.53	-1.3829	19.59	0.95506	0.0:1.0:0.0:0.0	.	409;409	Q9P2K5-2;Q9P2K5	.;MYEF2_HUMAN	I	409;409;21	ENSP00000316950:M409I;ENSP00000267836:M409I	ENSP00000267836:M409I	M	-	3	0	MYEF2	46231041	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	5.133000	0.64764	2.639000	0.89480	0.655000	0.94253	ATG		0.383	MYEF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416909.2	NM_016132		20	159	1	0	2.39556e-15	1	3.18011e-15	20	159				
AHDC1	27245	broad.mit.edu	37	1	27876193	27876193	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:27876193C>T	ENST00000247087.5	-	5	3030	c.2434G>A	c.(2434-2436)Ggc>Agc	p.G812S	AHDC1_ENST00000374011.2_Missense_Mutation_p.G812S			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	812	Gly-rich.						DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CTGCCACGGCCTGAGGCTCCA	0.652																																						ENST00000374011.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(2434-2436)Ggc>Agc		AT hook, DNA binding motif, containing 1							41.0	46.0	44.0					1																	27876193		2187	4274	6461	SO:0001583	missense	27245						DNA binding	g.chr1:27876193C>T	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.2434G>A	1.37:g.27876193C>T	ENSP00000247087:p.Gly812Ser					AHDC1_ENST00000247087.5_Missense_Mutation_p.G812S|AHDC1_ENST00000482400.2_Intron	p.G812S	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	6	3402	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	812			Gly-rich.		Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	ENST00000247087.5	37	c.2434G>A	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.793131	0.50102	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.49720	0.77;0.77	5.88	5.88	0.94601	.	0.215496	0.32204	N	0.006438	T	0.31358	0.0794	N	0.19112	0.55	0.35807	D	0.823555	B	0.23891	0.093	B	0.22386	0.039	T	0.33624	-0.9861	10	0.36615	T	0.2	-16.5503	9.1207	0.36786	0.0:0.8454:0.0:0.1546	.	812	Q5TGY3	AHDC1_HUMAN	S	812	ENSP00000247087:G812S;ENSP00000363123:G812S	ENSP00000247087:G812S	G	-	1	0	AHDC1	27748780	0.896000	0.30565	0.991000	0.47740	0.941000	0.58515	1.608000	0.36847	2.782000	0.95742	0.655000	0.94253	GGC		0.652	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			21	56	0	0	0	1	0	21	56				
LANCL2	55915	broad.mit.edu	37	7	55467659	55467659	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:55467659G>T	ENST00000254770.2	+	4	1118	c.540G>T	c.(538-540)caG>caT	p.Q180H	LANCL2_ENST00000486376.1_3'UTR	NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	180					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of abscisic acid-activated signaling pathway (GO:0009789)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|GTP binding (GO:0005525)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			GACTTTTGCAGCTCCAGAGAT	0.413																																						ENST00000254770.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25						c.(538-540)caG>caT		LanC lantibiotic synthetase component C-like 2 (bacterial)							121.0	117.0	119.0					7																	55467659		2203	4300	6503	SO:0001583	missense	55915				negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding	g.chr7:55467659G>T	AJ278245	CCDS5517.1	7q31.1-q31.33	2008-07-18	2001-12-04		ENSG00000132434	ENSG00000132434			6509	protein-coding gene	gene with protein product	"""testis-specific adriamycin sensitivity protein"", ""G protein-coupled receptor 69B"""	612919	"""LanC (bacterial lantibiotic synthetase component C)-like 2"""	GPR69B		11762191	Standard	NM_018697		Approved	TASP	uc003tqp.3	Q9NS86	OTTHUMG00000023779	ENST00000254770.2:c.540G>T	7.37:g.55467659G>T	ENSP00000254770:p.Gln180His					LANCL2_ENST00000486376.1_3'UTR	p.Q180H	NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)		4	1118	+	Breast(14;0.0379)		180					B2R8D4|Q6NSL4|Q8TCQ3|Q9BSR1	Missense_Mutation	SNP	ENST00000254770.2	37	c.540G>T	CCDS5517.1	.	.	.	.	.	.	.	.	.	.	G	10.58	1.390967	0.25118	.	.	ENSG00000132434	ENST00000254770	T	0.44083	0.93	5.47	3.66	0.41972	Six-hairpin glycosidase-like (1);	0.000000	0.85682	D	0.000000	T	0.37785	0.1016	L	0.53729	1.69	0.51233	D	0.999912	B	0.27594	0.182	B	0.26094	0.066	T	0.07635	-1.0762	10	0.21014	T	0.42	.	14.1303	0.65250	0.1394:0.0:0.8606:0.0	.	180	Q9NS86	LANC2_HUMAN	H	180	ENSP00000254770:Q180H	ENSP00000254770:Q180H	Q	+	3	2	LANCL2	55435153	1.000000	0.71417	1.000000	0.80357	0.308000	0.27856	2.899000	0.48679	0.383000	0.24910	-0.813000	0.03139	CAG		0.413	LANCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251459.1	NM_018697		41	46	1	0	8.16277e-20	1	1.13171e-19	41	46				
CR2	1380	broad.mit.edu	37	1	207652615	207652615	+	Silent	SNP	T	T	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:207652615T>A	ENST00000367058.3	+	16	3114	c.2925T>A	c.(2923-2925)ccT>ccA	p.P975P	CR2_ENST00000458541.2_Silent_p.P948P|CR2_ENST00000367057.3_Silent_p.P1034P|CR2_ENST00000367059.3_Silent_p.P913P	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	975					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CACTTGCTCCTGTCCTTTGTG	0.313																																						ENST00000367057.3																			0				NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						c.(3100-3102)ccT>ccA		complement component (3d/Epstein Barr virus) receptor 2							161.0	151.0	155.0					1																	207652615		2203	4299	6502	SO:0001819	synonymous_variant	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207652615T>A	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.2925T>A	1.37:g.207652615T>A						CR2_ENST00000367059.3_Silent_p.P913P|CR2_ENST00000367058.3_Silent_p.P975P|CR2_ENST00000458541.2_Silent_p.P948P	p.P1034P	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN			17	3291	+			975					C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Silent	SNP	ENST00000367058.3	37	c.3102T>A	CCDS1478.1																																																																																				0.313	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		12	18	0	0	0	1	0	12	18				
LRRC37A11P	342666	broad.mit.edu	37	17	37188126	37188126	+	RNA	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:37188126C>A	ENST00000425901.2	+	0	1968					NR_033753.2				leucine rich repeat containing 37, member A11, pseudogene																		AAGGTTGAACCGTCTACAGCC	0.522																																						ENST00000425901.2																			0																																																			342666							g.chr17:37188126C>A			17q12	2013-05-14			ENSG00000214553	ENSG00000214553			43815	pseudogene	pseudogene							Standard	NR_033753		Approved		uc002hrd.1		OTTHUMG00000133184		17.37:g.37188126C>A								NR_033753.2						0	1968	+									RNA	SNP	ENST00000425901.2	37																																																																																						0.522	LRRC37A11P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444105.1	NR_033753		37	46	1	0	1.4065e-29	1	2.02948e-29	37	46				
ZNF827	152485	broad.mit.edu	37	4	146807290	146807290	+	Silent	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:146807290C>A	ENST00000508784.1	-	4	1514	c.1287G>T	c.(1285-1287)cgG>cgT	p.R429R	ZNF827_ENST00000379448.4_Silent_p.R429R|ZNF827_ENST00000513320.1_Silent_p.R79R			Q17R98	ZN827_HUMAN	zinc finger protein 827	429					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					AGGTCTCTCCCCGATCCTGGT	0.507																																						ENST00000508784.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1285-1287)cgG>cgT		zinc finger protein 827							75.0	67.0	70.0					4																	146807290		2203	4300	6503	SO:0001819	synonymous_variant	152485				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:146807290C>A	AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.1287G>T	4.37:g.146807290C>A						ZNF827_ENST00000379448.4_Silent_p.R429R|ZNF827_ENST00000513320.1_Silent_p.R79R	p.R429R			Q17R98	ZN827_HUMAN			4	1514	-	all_hematologic(180;0.151)		429					B7ZL52|Q7Z4S7|Q8N279	Silent	SNP	ENST00000508784.1	37	c.1287G>T																																																																																					0.507	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835		6	17	1	0	5.9392e-07	1	6.84103e-07	6	17				
MUC17	140453	broad.mit.edu	37	7	100680662	100680662	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:100680662A>G	ENST00000306151.4	+	3	6029	c.5965A>G	c.(5965-5967)Agt>Ggt	p.S1989G		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1989	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.S1989C(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCCACTAACAAGTATGCCTCT	0.512																																						ENST00000306151.4																			1	Substitution - Missense(1)	p.S1989C(1)	pancreas(1)	NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(5965-5967)Agt>Ggt		mucin 17, cell surface associated							285.0	268.0	274.0					7																	100680662		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100680662A>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.5965A>G	7.37:g.100680662A>G	ENSP00000302716:p.Ser1989Gly						p.S1989G	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	6029	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1989			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.5965A>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	3.394	-0.123717	0.06795	.	.	ENSG00000169876	ENST00000306151	T	0.02552	4.25	0.512	0.512	0.16994	.	.	.	.	.	T	0.01287	0.0042	N	0.14661	0.345	0.09310	N	1	P	0.42584	0.784	B	0.28638	0.092	T	0.49000	-0.8984	9	0.17369	T	0.5	.	5.3548	0.16055	0.9998:0.0:2.0E-4:0.0	.	1989	Q685J3	MUC17_HUMAN	G	1989	ENSP00000302716:S1989G	ENSP00000302716:S1989G	S	+	1	0	MUC17	100467382	0.000000	0.05858	0.004000	0.12327	0.010000	0.07245	-1.118000	0.03280	0.459000	0.27016	0.113000	0.15668	AGT		0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		135	224	0	0	0	1	0	135	224				
SECISBP2L	9728	broad.mit.edu	37	15	49284577	49284577	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr15:49284577T>G	ENST00000559471.1	-	18	3433	c.3170A>C	c.(3169-3171)gAg>gCg	p.E1057A	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.E1012A	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	1057							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						CTCCAGCACCTCAGGCGCCTC	0.542																																						ENST00000559471.1																			0				breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						c.(3169-3171)gAg>gCg		SECIS binding protein 2-like							116.0	112.0	114.0					15																	49284577		2197	4295	6492	SO:0001583	missense	9728							g.chr15:49284577T>G	BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.3170A>C	15.37:g.49284577T>G	ENSP00000453854:p.Glu1057Ala					SECISBP2L_ENST00000261847.3_Missense_Mutation_p.E1012A	p.E1057A	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN			18	3433	-			1057					Q8N767	Missense_Mutation	SNP	ENST00000559471.1	37	c.3170A>C	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	T	14.45	2.539414	0.45176	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	T	0.74947	-0.89	5.18	5.18	0.71444	.	0.128566	0.50627	D	0.000120	T	0.78786	0.4338	L	0.27053	0.805	0.47037	D	0.999298	D;D	0.67145	0.993;0.996	D;D	0.76071	0.971;0.987	T	0.81865	-0.0736	10	0.87932	D	0	.	15.196	0.73088	0.0:0.0:0.0:1.0	.	1057;1012	Q93073;Q93073-2	SBP2L_HUMAN;.	A	1012;1057	ENSP00000261847:E1012A	ENSP00000261847:E1012A	E	-	2	0	SECISBP2L	47071869	1.000000	0.71417	0.588000	0.28705	0.119000	0.20118	4.769000	0.62300	2.179000	0.69175	0.528000	0.53228	GAG		0.542	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701		26	14	0	0	0	1	0	26	14				
APBB1IP	54518	broad.mit.edu	37	10	26789884	26789884	+	Silent	SNP	A	A	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr10:26789884A>G	ENST00000376236.4	+	5	752	c.297A>G	c.(295-297)ctA>ctG	p.L99L	APBB1IP_ENST00000356785.4_Silent_p.L99L	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	99					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						CAGCATCTCTACAAGCATCAA	0.473																																						ENST00000376236.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						c.(295-297)ctA>ctG		amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein							182.0	155.0	164.0					10																	26789884		2203	4300	6503	SO:0001819	synonymous_variant	54518				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium		g.chr10:26789884A>G	AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"""Pleckstrin homology (PH) domain containing"""	17379	protein-coding gene	gene with protein product	"""Rap1-GTP-interacting adaptor molecule"""	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	ENST00000376236.4:c.297A>G	10.37:g.26789884A>G						APBB1IP_ENST00000356785.4_Silent_p.L99L	p.L99L	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN			5	752	+			99					Q8IWS8|Q8IYL7|Q8IZZ7	Silent	SNP	ENST00000376236.4	37	c.297A>G	CCDS31167.1																																																																																				0.473	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047270.1	NM_019043		17	56	0	0	0	1	0	17	56				
ECE2	9718	broad.mit.edu	37	3	183994271	183994271	+	Intron	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr3:183994271G>T	ENST00000402825.3	+	3	480				ECE2_ENST00000357474.5_Missense_Mutation_p.M14I|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Missense_Mutation_p.M14I|ECE2_ENST00000359140.4_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2						brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCTGGCAGATGGTGGAGTACA	0.687																																						ENST00000404464.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49						c.(40-42)atG>atT		endothelin converting enzyme 2							14.0	19.0	17.0					3																	183994271		2013	4159	6172	SO:0001627	intron_variant	9718				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	g.chr3:183994271G>T	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.481-409G>T	3.37:g.183994271G>T						ECE2_ENST00000402825.3_Intron|ECE2_ENST00000359140.4_Intron|ECE2_ENST00000357474.5_Missense_Mutation_p.M14I|EIF2B5_ENST00000444495.1_Intron	p.M14I	NM_001100120.1|NM_001100121.1	NP_001093590.1|NP_001093591.1	O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		2	180	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		0			Methyltransferase-like region.		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	ENST00000402825.3	37	c.42G>T	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.549028	0.86127	.	.	ENSG00000145194	ENST00000404464;ENST00000357474	D;D	0.89343	-1.63;-2.5	3.76	3.76	0.43208	.	0.051805	0.85682	D	0.000000	D	0.90266	0.6956	L	0.29908	0.895	0.52501	D	0.999957	D;B;D	0.69078	0.997;0.373;0.97	D;B;D	0.75020	0.985;0.311;0.964	D	0.91650	0.5334	10	0.87932	D	0	.	14.2998	0.66339	0.0:0.0:1.0:0.0	.	14;14;14	B7Z1P1;O60344-2;O60344-5	.;.;.	I	14	ENSP00000385846:M14I;ENSP00000350066:M14I	ENSP00000350066:M14I	M	+	3	0	ECE2	185476965	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.535000	0.67173	1.934000	0.56057	0.462000	0.41574	ATG		0.687	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		11	9	1	0	1.58986e-06	1	1.81552e-06	11	9				
TAOK3	51347	broad.mit.edu	37	12	118682749	118682749	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:118682749C>A	ENST00000392533.3	-	4	632	c.142G>T	c.(142-144)Gag>Tag	p.E48*	TAOK3_ENST00000419821.2_Nonsense_Mutation_p.E48*	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	48	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCCACCACCTCACTGGTGTGA	0.373																																						ENST00000392533.3																			0				central_nervous_system(1)|lung(5)|skin(1)	7						c.(142-144)Gag>Tag		TAO kinase 3							147.0	139.0	142.0					12																	118682749		2203	4300	6503	SO:0001587	stop_gained	51347				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:118682749C>A	AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.142G>T	12.37:g.118682749C>A	ENSP00000376317:p.Glu48*					TAOK3_ENST00000419821.2_Nonsense_Mutation_p.E48*	p.E48*	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN			4	632	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		48			Protein kinase.		Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Nonsense_Mutation	SNP	ENST00000392533.3	37	c.142G>T	CCDS9188.1	.	.	.	.	.	.	.	.	.	.	C	35	5.523776	0.96431	.	.	ENSG00000135090	ENST00000419821;ENST00000392533;ENST00000535570;ENST00000541186;ENST00000541878;ENST00000542902	.	.	.	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.8034	0.92027	0.0:1.0:0.0:0.0	.	.	.	.	X	48	.	ENSP00000376317:E48X	E	-	1	0	TAOK3	117167132	1.000000	0.71417	0.999000	0.59377	0.683000	0.39861	7.507000	0.81676	2.665000	0.90641	0.591000	0.81541	GAG		0.373	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401456.2	NM_016281		23	37	1	0	9.57634e-11	1	1.20499e-10	23	37				
COL8A1	1295	broad.mit.edu	37	3	99513367	99513367	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr3:99513367G>C	ENST00000261037.3	+	5	1002	c.622G>C	c.(622-624)Ggg>Cgg	p.G208R	COL8A1_ENST00000273342.4_Missense_Mutation_p.G208R	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	208	Triple-helical region (COL1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen type VIII trimer (GO:0005591)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						TCCTGGCATTGGGAAGCCAGG	0.587																																						ENST00000261037.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						c.(622-624)Ggg>Cgg		collagen, type VIII, alpha 1							51.0	54.0	53.0					3																	99513367		2203	4300	6503	SO:0001583	missense	1295				angiogenesis|cell adhesion	basement membrane|collagen type VIII		g.chr3:99513367G>C	AF170702	CCDS2934.1	3q11.1-q13.2	2013-01-16			ENSG00000144810	ENSG00000144810		"""Collagens"""	2215	protein-coding gene	gene with protein product		120251	"""chromosome 3 open reading frame 7"""	C3orf7		2029894	Standard	NM_001850		Approved	MGC9568	uc003dth.2	P27658	OTTHUMG00000148669	ENST00000261037.3:c.622G>C	3.37:g.99513367G>C	ENSP00000261037:p.Gly208Arg					COL8A1_ENST00000273342.4_Missense_Mutation_p.G208R	p.G208R	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN			5	1002	+			208			Triple-helical region (COL1).		D3DN42|Q53XI6|Q96D07	Missense_Mutation	SNP	ENST00000261037.3	37	c.622G>C	CCDS2934.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.222209	0.39300	.	.	ENSG00000144810	ENST00000261037;ENST00000273342	D;D	0.99353	-5.77;-5.77	5.37	5.37	0.77165	.	0.247697	0.40728	N	0.001023	D	0.99619	0.9861	H	0.97214	3.96	0.46874	D	0.999231	D;D	0.69078	0.997;0.997	D;D	0.66979	0.948;0.948	D	0.98061	1.0393	10	0.49607	T	0.09	.	16.5979	0.84801	0.0:0.0:1.0:0.0	.	209;208	E7EPK9;P27658	.;CO8A1_HUMAN	R	208	ENSP00000261037:G208R;ENSP00000273342:G208R	ENSP00000261037:G208R	G	+	1	0	COL8A1	100996057	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.539000	0.60657	2.511000	0.84671	0.655000	0.94253	GGG		0.587	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309001.1	NM_001850		9	33	0	0	0	1	0	9	33				
IKZF3	22806	broad.mit.edu	37	17	37922660	37922660	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:37922660C>A	ENST00000346872.3	-	8	974	c.913G>T	c.(913-915)Gac>Tac	p.D305Y	IKZF3_ENST00000535189.1_Missense_Mutation_p.D271Y|IKZF3_ENST00000377952.2_Missense_Mutation_p.D84Y|IKZF3_ENST00000377945.3_Missense_Mutation_p.D171Y|IKZF3_ENST00000439167.2_Missense_Mutation_p.D232Y|IKZF3_ENST00000377944.3_Missense_Mutation_p.D162Y|IKZF3_ENST00000439016.2_Missense_Mutation_p.D210Y|IKZF3_ENST00000467757.1_Missense_Mutation_p.D249Y|IKZF3_ENST00000346243.3_Missense_Mutation_p.D227Y|IKZF3_ENST00000351680.3_Missense_Mutation_p.D266Y|IKZF3_ENST00000350532.3_Missense_Mutation_p.D266Y|IKZF3_ENST00000377958.2_Missense_Mutation_p.D218Y|IKZF3_ENST00000394189.2_Missense_Mutation_p.D123Y|IKZF3_ENST00000583368.1_Missense_Mutation_p.D58Y|RP11-94L15.2_ENST00000488188.2_lincRNA	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	305					B cell activation (GO:0042113)|mesoderm development (GO:0007498)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of B cell proliferation (GO:0030888)|regulation of lymphocyte differentiation (GO:0045619)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			ATGGCTTGGTCCATCATGCGG	0.517																																						ENST00000346872.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(913-915)Gac>Tac		IKAROS family zinc finger 3 (Aiolos)							115.0	110.0	111.0					17																	37922660		2203	4300	6503	SO:0001583	missense	22806				B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:37922660C>A	AF129512	CCDS11346.1, CCDS11347.1, CCDS11348.1, CCDS11349.1, CCDS11350.1, CCDS11351.1, CCDS58539.1, CCDS58540.1, CCDS58541.1, CCDS58542.1, CCDS58543.1, CCDS58544.1, CCDS58545.1, CCDS74055.1	17q11.2	2013-01-08	2006-08-25	2006-08-25	ENSG00000161405	ENSG00000161405		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13178	protein-coding gene	gene with protein product		606221	"""zinc finger protein, subfamily 1A, 3 (Aiolos)"""	ZNFN1A3		9155026, 10552935	Standard	NM_012481		Approved	Aiolos	uc002hsu.4	Q9UKT9	OTTHUMG00000133250	ENST00000346872.3:c.913G>T	17.37:g.37922660C>A	ENSP00000344544:p.Asp305Tyr					IKZF3_ENST00000467757.1_Missense_Mutation_p.D249Y|IKZF3_ENST00000350532.3_Missense_Mutation_p.D266Y|IKZF3_ENST00000439016.2_Missense_Mutation_p.D210Y|IKZF3_ENST00000394189.2_Missense_Mutation_p.D123Y|IKZF3_ENST00000583368.1_Missense_Mutation_p.D58Y|IKZF3_ENST00000377944.3_Missense_Mutation_p.D162Y|IKZF3_ENST00000377958.2_Missense_Mutation_p.D218Y|IKZF3_ENST00000351680.3_Missense_Mutation_p.D266Y|IKZF3_ENST00000346243.3_Missense_Mutation_p.D227Y|IKZF3_ENST00000377945.3_Missense_Mutation_p.D171Y|IKZF3_ENST00000439167.2_Missense_Mutation_p.D232Y|IKZF3_ENST00000377952.2_Missense_Mutation_p.D84Y|IKZF3_ENST00000535189.1_Missense_Mutation_p.D271Y	p.D305Y	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		8	974	-	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		305					B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Missense_Mutation	SNP	ENST00000346872.3	37	c.913G>T	CCDS11346.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.4|26.4	4.735134|4.735134	0.89482|0.89482	.|.	.|.	ENSG00000161405|ENSG00000161405	ENST00000488188;ENST00000346872;ENST00000377945;ENST00000394189;ENST00000377944;ENST00000377958;ENST00000377952;ENST00000535189;ENST00000351680;ENST00000346243;ENST00000350532;ENST00000467757|ENST00000439167;ENST00000439016	T;T;T;T;T;T;T;T;T;T|.	0.12465|.	3.0;3.17;2.88;2.68;3.16;2.94;3.13;3.15;3.07;3.9|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	0.000000|.	0.64402|.	D|.	0.000007|.	D|D	0.83727|0.83727	0.5317|0.5317	M|M	0.85630|0.85630	2.765|2.765	0.80722|0.80722	D|D	1|1	D;D;D;D;D;P;D;D;D;P;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;0.756;1.0;1.0;0.998;0.746;1.0;1.0;0.995|.	D;D;D;D;D;P;D;D;D;P;D;D;D|.	0.91635|.	0.989;0.995;0.988;0.995;0.994;0.461;0.999;0.995;0.981;0.661;0.999;0.999;0.921|.	D|D	0.84091|0.84091	0.0390|0.0390	10|5	0.52906|.	T|.	0.07|.	-25.6281|-25.6281	20.3053|20.3053	0.98627|0.98627	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	218;84;123;171;162;271;227;210;266;249;266;232;305|.	Q9UKT9-9;Q9UKT9-12;Q9UKT9-11;Q9UKT9-13;Q9UKT9-10;Q9UKT9-7;Q9UKT9-6;Q9UKT9-5;Q9UKT9-4;Q9UKT9-2;Q9UKT9-3;Q9UKT9-8;Q9UKT9|.	.;.;.;.;.;.;.;.;.;.;.;.;IKZF3_HUMAN|.	Y|C	305;210;171;123;162;218;84;271;266;227;266;249|219;258	ENSP00000367180:D171Y;ENSP00000377741:D123Y;ENSP00000367179:D162Y;ENSP00000367194:D218Y;ENSP00000367188:D84Y;ENSP00000438972:D271Y;ENSP00000345622:D266Y;ENSP00000341977:D227Y;ENSP00000344471:D266Y;ENSP00000420463:D249Y|.	ENSP00000341977:D227Y|.	D|W	-|-	1|3	0|0	IKZF3|IKZF3	35176186|35176186	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.818000|7.818000	0.86416|0.86416	2.808000|2.808000	0.96608|0.96608	0.655000|0.655000	0.94253|0.94253	GAC|TGG		0.517	IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257004.2	NM_012481		32	40	1	0	3.03874e-20	1	4.22401e-20	32	40				
PXDNL	137902	broad.mit.edu	37	8	52370189	52370189	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr8:52370189A>T	ENST00000356297.4	-	9	951	c.851T>A	c.(850-852)gTg>gAg	p.V284E	PXDNL_ENST00000543296.1_Missense_Mutation_p.V284E	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	284	Ig-like C2-type 1.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				ATCATCAAACACATTAAGTCG	0.403																																						ENST00000356297.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48						c.(850-852)gTg>gAg		peroxidasin homolog (Drosophila)-like							189.0	185.0	186.0					8																	52370189		1955	4144	6099	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52370189A>T		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.851T>A	8.37:g.52370189A>T	ENSP00000348645:p.Val284Glu					PXDNL_ENST00000543296.1_Missense_Mutation_p.V284E	p.V284E	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN			9	951	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	284			Ig-like C2-type 1.		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.851T>A	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	A	13.14	2.148222	0.37923	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.44083	0.93;0.93	3.28	3.28	0.37604	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.42381	0.1200	M	0.61387	1.9	0.29198	N	0.875381	B	0.26318	0.146	B	0.32583	0.148	T	0.48175	-0.9058	9	0.87932	D	0	.	8.3074	0.32051	1.0:0.0:0.0:0.0	.	284	A1KZ92	PXDNL_HUMAN	E	284	ENSP00000348645:V284E;ENSP00000444865:V284E	ENSP00000348645:V284E	V	-	2	0	PXDNL	52532742	1.000000	0.71417	0.944000	0.38274	0.515000	0.34225	5.864000	0.69575	1.268000	0.44264	0.454000	0.30748	GTG		0.403	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		34	110	0	0	0	1	0	34	110				
SPATS1	221409	broad.mit.edu	37	6	44337832	44337832	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:44337832C>T	ENST00000288390.2	+	6	1087	c.740C>T	c.(739-741)cCt>cTt	p.P247L	SPATS1_ENST00000323108.8_Missense_Mutation_p.P247L|RP11-444E17.6_ENST00000505802.1_3'UTR			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	247										NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCACTTGAGCCTCTTCCACAA	0.348																																						ENST00000288390.2																			0				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14						c.(739-741)cCt>cTt		spermatogenesis associated, serine-rich 1							176.0	171.0	172.0					6																	44337832		2202	4299	6501	SO:0001583	missense	221409							g.chr6:44337832C>T	AK058171	CCDS4911.1	6p21.1	2003-08-08			ENSG00000249481	ENSG00000249481			22957	protein-coding gene	gene with protein product							Standard	NM_145026		Approved	SPATA8, FLJ25442, SRSP1	uc021yzz.1	Q496A3	OTTHUMG00000014764	ENST00000288390.2:c.740C>T	6.37:g.44337832C>T	ENSP00000424400:p.Pro247Leu					SPATS1_ENST00000323108.8_Missense_Mutation_p.P247L	p.P247L			Q496A3	SPAS1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		6	1087	+	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		247					Q496A2|Q496A5|Q96LJ0	Missense_Mutation	SNP	ENST00000288390.2	37	c.740C>T	CCDS4911.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025765	0.75390	.	.	ENSG00000249481	ENST00000323108;ENST00000288390	T;T	0.52983	0.64;0.64	5.62	5.62	0.85841	.	0.000000	0.56097	D	0.000037	T	0.58708	0.2141	L	0.59436	1.845	0.54753	D	0.999982	D	0.89917	1.0	D	0.91635	0.999	T	0.61207	-0.7109	10	0.72032	D	0.01	.	15.1651	0.72818	0.0:1.0:0.0:0.0	.	247	Q496A3	SPAS1_HUMAN	L	247	ENSP00000437552:P247L;ENSP00000424400:P247L	ENSP00000424400:P247L	P	+	2	0	SPATS1	44445810	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.497000	0.35649	2.654000	0.90174	0.655000	0.94253	CCT		0.348	SPATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040738.2	NM_145026		30	32	0	0	0	1	0	30	32				
EXO5	64789	broad.mit.edu	37	1	40980312	40980312	+	Silent	SNP	A	A	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:40980312A>G	ENST00000372703.1	+	2	1170	c.96A>G	c.(94-96)gaA>gaG	p.E32E	RP11-656D10.6_ENST00000437060.1_RNA|EXO5_ENST00000296380.4_Silent_p.E32E|RP11-656D10.5_ENST00000453437.1_RNA|EXO5_ENST00000358527.2_Silent_p.E32E			Q9H790	EXO5_HUMAN	exonuclease 5	32					DNA catabolic process, exonucleolytic (GO:0000738)|interstrand cross-link repair (GO:0036297)	cytosol (GO:0005829)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)										TGGACCTAGAAGATGCCCAAG	0.478																																						ENST00000372703.1																			0											c.(94-96)gaA>gaG		exonuclease 5							107.0	116.0	113.0					1																	40980312		2203	4300	6503	SO:0001819	synonymous_variant	64789							g.chr1:40980312A>G	AK024797	CCDS453.1	1p34.2	2012-11-02	2012-10-30	2012-10-30	ENSG00000164002	ENSG00000164002			26115	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 176"", ""defects in morphology 1 homolog (S. cerevisiae)"""	C1orf176, DEM1		23095756	Standard	NM_022774		Approved	FLJ21144	uc001cfp.3	Q9H790	OTTHUMG00000007305	ENST00000372703.1:c.96A>G	1.37:g.40980312A>G						RP11-656D10.5_ENST00000453437.1_RNA|EXO5_ENST00000296380.4_Silent_p.E32E|EXO5_ENST00000358527.2_Silent_p.E32E	p.E32E							2	1170	+								D3DPV4|Q5SWM7|Q5SWM8|Q5SWM9|Q5SWN0|Q5SWN1|Q8WTW9	Silent	SNP	ENST00000372703.1	37	c.96A>G	CCDS453.1																																																																																				0.478	EXO5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019087.1	NM_022774		36	38	0	0	0	1	0	36	38				
ZNF675	171392	broad.mit.edu	37	19	23836307	23836307	+	Silent	SNP	T	T	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:23836307T>A	ENST00000359788.4	-	4	1596	c.1428A>T	c.(1426-1428)ggA>ggT	p.G476G	ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	476					bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AGGGTATCTCTCCAGAATGAA	0.363																																						ENST00000359788.4																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(1426-1428)ggA>ggT		zinc finger protein 675							38.0	41.0	40.0					19																	23836307		2203	4299	6502	SO:0001819	synonymous_variant	171392				bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:23836307T>A		CCDS32981.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	30768	protein-coding gene	gene with protein product	"""TRAF6 inhibitory zinc finger"""					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.1428A>T	19.37:g.23836307T>A						ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000601935.1_Intron	p.G476G	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN			4	1596	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	476					Q8N211	Silent	SNP	ENST00000359788.4	37	c.1428A>T	CCDS32981.1																																																																																				0.363	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466433.1	NM_138330		14	26	0	0	0	1	0	14	26				
KBTBD12	166348	broad.mit.edu	37	3	127682102	127682102	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr3:127682102C>A	ENST00000405109.1	+	5	2030	c.1563C>A	c.(1561-1563)aaC>aaA	p.N521K	KBTBD12_ENST00000492025.1_3'UTR|KBTBD12_ENST00000405256.1_Missense_Mutation_p.N521K|KBTBD12_ENST00000407609.3_Missense_Mutation_p.N128K|KBTBD12_ENST00000343941.4_Missense_Mutation_p.N96K|RNA5SP139_ENST00000364340.1_RNA			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	521										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						AGATCTACAACCCAGATGGGG	0.547																																						ENST00000405109.1																			0				endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						c.(1561-1563)aaC>aaA		kelch repeat and BTB (POZ) domain containing 12							73.0	63.0	67.0					3																	127682102		2203	4300	6503	SO:0001583	missense	166348							g.chr3:127682102C>A		CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715		"""BTB/POZ domain containing"""	25731	protein-coding gene	gene with protein product			"""kelch domain containing 6"""	KLHDC6			Standard	NM_207335		Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000405109.1:c.1563C>A	3.37:g.127682102C>A	ENSP00000385957:p.Asn521Lys					KBTBD12_ENST00000405256.1_Missense_Mutation_p.N521K|KBTBD12_ENST00000492025.1_3'UTR|KBTBD12_ENST00000407609.3_Missense_Mutation_p.N128K|KBTBD12_ENST00000343941.4_Missense_Mutation_p.N96K	p.N521K			Q3ZCT8	KBTBC_HUMAN			5	2030	+			521					B5MCC6|Q6ZRK1	Missense_Mutation	SNP	ENST00000405109.1	37	c.1563C>A	CCDS33848.2	.	.	.	.	.	.	.	.	.	.	C	21.5	4.160277	0.78226	.	.	ENSG00000187715	ENST00000405109;ENST00000407609;ENST00000405256;ENST00000343941	T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.4	5.41	3.62	0.41486	Kelch-type beta propeller (1);	0.000000	0.64402	D	0.000006	T	0.80763	0.4685	M	0.81802	2.56	0.58432	D	0.999993	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.91	T	0.81583	-0.0866	10	0.87932	D	0	.	11.2916	0.49254	0.0:0.8537:0.0:0.1463	.	521;96	Q3ZCT8;Q3ZCT8-2	KBTBC_HUMAN;.	K	521;128;521;96	ENSP00000385957:N521K;ENSP00000385830:N128K;ENSP00000385879:N521K;ENSP00000345478:N96K	ENSP00000345478:N96K	N	+	3	2	KBTBD12	129164792	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.214000	0.32419	0.661000	0.30985	0.591000	0.81541	AAC		0.547	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318682.1	NM_207335		5	3	1	0	0.00198382	1	0.00210681	5	3				
CHST2	9435	broad.mit.edu	37	3	142840858	142840858	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr3:142840858T>A	ENST00000309575.3	+	2	2584	c.1200T>A	c.(1198-1200)aaT>aaA	p.N400K		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	400					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|multicellular organismal development (GO:0007275)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						TCATCTGCAATAGTATGGCTA	0.657																																						ENST00000309575.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						c.(1198-1200)aaT>aaA		carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2							49.0	57.0	54.0					3																	142840858		2203	4300	6503	SO:0001583	missense	9435				inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr3:142840858T>A	BC042160	CCDS3129.1	3q24	2007-03-14			ENSG00000175040	ENSG00000175040		"""Sulfotransferases, membrane-bound"""	1970	protein-coding gene	gene with protein product		603798				10049591	Standard	NM_004267		Approved	C6ST	uc003evm.3	Q9Y4C5	OTTHUMG00000159351	ENST00000309575.3:c.1200T>A	3.37:g.142840858T>A	ENSP00000307911:p.Asn400Lys						p.N400K	NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN			2	2584	+			400					D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Missense_Mutation	SNP	ENST00000309575.3	37	c.1200T>A	CCDS3129.1	.	.	.	.	.	.	.	.	.	.	T	9.910	1.209161	0.22205	.	.	ENSG00000175040	ENST00000309575	D	0.81821	-1.54	4.47	0.483	0.16820	Sulfotransferase domain (1);	0.311562	0.34133	N	0.004235	T	0.49643	0.1569	N	0.02842	-0.48	0.31175	N	0.702712	B	0.28820	0.224	B	0.31495	0.131	T	0.54207	-0.8328	10	0.05525	T	0.97	-15.9033	6.131	0.20204	0.0:0.5759:0.1243:0.2998	.	400	Q9Y4C5	CHST2_HUMAN	K	400	ENSP00000307911:N400K	ENSP00000307911:N400K	N	+	3	2	CHST2	144323548	0.975000	0.34042	1.000000	0.80357	0.869000	0.49853	0.234000	0.17930	0.149000	0.19098	-0.534000	0.04291	AAT		0.657	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354850.1	NM_004267		44	37	0	0	0	1	0	44	37				
KCNB2	9312	broad.mit.edu	37	8	73479975	73479975	+	Silent	SNP	A	A	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr8:73479975A>T	ENST00000523207.1	+	2	594	c.6A>T	c.(4-6)gcA>gcT	p.A2A		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	2					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	TCAAAATGGCAGAAAAGGCTC	0.507																																						ENST00000523207.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(4-6)gcA>gcT		potassium voltage-gated channel, Shab-related subfamily, member 2							77.0	79.0	78.0					8																	73479975		2203	4300	6503	SO:0001819	synonymous_variant	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73479975A>T	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.6A>T	8.37:g.73479975A>T							p.A2A	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		2	594	+	Breast(64;0.137)		2					Q7Z7D0|Q9BXD3	Silent	SNP	ENST00000523207.1	37	c.6A>T	CCDS6209.1																																																																																				0.507	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		28	95	0	0	0	1	0	28	95				
MEGF8	1954	broad.mit.edu	37	19	42862415	42862415	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:42862415C>T	ENST00000251268.6	+	29	5131	c.5131C>T	c.(5131-5133)Cct>Tct	p.P1711S	MEGF8_ENST00000334370.4_Missense_Mutation_p.P1644S	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1711					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCTGCACTGTCCTGACCGCAC	0.627																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(4930-4932)Cct>Tct		multiple EGF-like-domains 8							50.0	37.0	41.0					19																	42862415		2202	4299	6501	SO:0001583	missense	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42862415C>T	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.5131C>T	19.37:g.42862415C>T	ENSP00000251268:p.Pro1711Ser					MEGF8_ENST00000251268.6_Missense_Mutation_p.P1711S	p.P1644S	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			28	5565	+		Prostate(69;0.00682)	1711					A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37	c.4930C>T		.	.	.	.	.	.	.	.	.	.	C	28.3	4.905630	0.92107	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.64618	-0.11;-0.11	4.84	4.84	0.62591	Galactose oxidase/kelch, beta-propeller (1);Kelch-type beta propeller (1);	0.000000	0.64402	D	0.000001	T	0.74137	0.3677	L	0.55834	1.745	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.994	T	0.70601	-0.4827	10	0.25106	T	0.35	-7.613	16.7299	0.85432	0.0:1.0:0.0:0.0	.	1711;1644	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	S	1644;1711	ENSP00000334219:P1644S;ENSP00000251268:P1711S	ENSP00000251268:P1711S	P	+	1	0	MEGF8	47554255	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.777000	0.75028	2.258000	0.74832	0.561000	0.74099	CCT		0.627	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		4	7	0	0	0	1	0	4	7				
ZNF613	79898	broad.mit.edu	37	19	52448913	52448913	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:52448913G>C	ENST00000293471.6	+	6	2456	c.1777G>C	c.(1777-1779)Gag>Cag	p.E593Q	ZNF613_ENST00000391794.4_Missense_Mutation_p.E557Q|ZNF613_ENST00000601794.1_Intron	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	593					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		GTTCCAAGCAGAGAGCAAAGT	0.443																																						ENST00000293471.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1777-1779)Gag>Cag		zinc finger protein 613							74.0	65.0	68.0					19																	52448913		2203	4300	6503	SO:0001583	missense	79898				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52448913G>C	AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.1777G>C	19.37:g.52448913G>C	ENSP00000293471:p.Glu593Gln					ZNF613_ENST00000391794.4_Missense_Mutation_p.E557Q|ZNF613_ENST00000601794.1_Intron	p.E593Q	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)	6	2456	+		all_neural(266;0.117)	593					Q96SS9	Missense_Mutation	SNP	ENST00000293471.6	37	c.1777G>C	CCDS33089.1	.	.	.	.	.	.	.	.	.	.	G	9.632	1.136794	0.21123	.	.	ENSG00000176024	ENST00000293471;ENST00000391794;ENST00000535279	T;T	0.05855	3.47;3.38	2.9	-1.77	0.07982	.	.	.	.	.	T	0.02848	0.0085	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.42515	-0.9447	9	0.59425	D	0.04	.	2.6838	0.05102	0.3807:0.0:0.4091:0.2102	.	593	Q6PF04	ZN613_HUMAN	Q	593;557;267	ENSP00000293471:E593Q;ENSP00000375671:E557Q	ENSP00000293471:E593Q	E	+	1	0	ZNF613	57140725	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-0.283000	0.08433	-0.269000	0.09298	-0.140000	0.14226	GAG		0.443	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461104.2	NM_024840		5	41	0	0	0	1	0	5	41				
GANC	2595	broad.mit.edu	37	15	42579976	42579976	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr15:42579976G>C	ENST00000318010.8	+	4	529	c.289G>C	c.(289-291)Gaa>Caa	p.E97Q	GANC_ENST00000566442.1_Missense_Mutation_p.E97Q	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	97					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	ACCCAGATTTGAAGTTCCGGA	0.393																																						ENST00000318010.8																			0				breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(289-291)Gaa>Caa		glucosidase, alpha; neutral C							71.0	71.0	71.0					15																	42579976		2203	4299	6502	SO:0001583	missense	2595				carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity	g.chr15:42579976G>C	AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.289G>C	15.37:g.42579976G>C	ENSP00000326227:p.Glu97Gln					GANC_ENST00000566442.1_Missense_Mutation_p.E97Q	p.E97Q	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN		GBM - Glioblastoma multiforme(94;1.06e-06)	4	529	+		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)	97					Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Missense_Mutation	SNP	ENST00000318010.8	37	c.289G>C	CCDS10084.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.005140	0.54254	.	.	ENSG00000214013	ENST00000318010	T	0.19806	2.12	5.7	5.7	0.88788	Glycoside hydrolase-type carbohydrate-binding (1);	0.106701	0.64402	D	0.000006	T	0.23451	0.0567	M	0.69185	2.1	0.50632	D	0.999889	B;P	0.36990	0.066;0.577	B;B	0.30646	0.041;0.118	T	0.05517	-1.0880	10	0.16896	T	0.51	-23.5312	18.6104	0.91283	0.0:0.0:1.0:0.0	.	97;97	Q8TET4;Q2M2A3	GANC_HUMAN;.	Q	97	ENSP00000326227:E97Q	ENSP00000326227:E97Q	E	+	1	0	GANC	40367268	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.504000	0.60414	2.703000	0.92315	0.655000	0.94253	GAA		0.393	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2	NM_198141		21	25	0	0	0	1	0	21	25				
ZFHX4	79776	broad.mit.edu	37	8	77616341	77616341	+	Silent	SNP	C	C	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr8:77616341C>G	ENST00000521891.2	+	2	466	c.18C>G	c.(16-18)tcC>tcG	p.S6S	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Silent_p.S6S|ZFHX4_ENST00000518282.1_Silent_p.S6S|ZFHX4_ENST00000050961.6_Silent_p.S6S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	6					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)			CCTGTGACTCCCCTCCTATCT	0.463										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.(16-18)tcC>tcG		zinc finger homeobox 4							43.0	42.0	42.0					8																	77616341		1957	4168	6125	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77616341C>G		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.18C>G	8.37:g.77616341C>G		HNSCC(33;0.089)				ZFHX4_ENST00000455469.2_Silent_p.S6S|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Silent_p.S6S|ZFHX4_ENST00000050961.6_Silent_p.S6S	p.S6S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	466	+			6					G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.18C>G	CCDS47878.2																																																																																				0.463	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		10	17	0	0	0	1	0	10	17				
GPI	2821	broad.mit.edu	37	19	34859488	34859488	+	Splice_Site	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:34859488G>T	ENST00000356487.5	+	4	524	c.283G>T	c.(283-285)Ggt>Tgt	p.G95C	GPI_ENST00000415930.3_Splice_Site_p.G134C|GPI_ENST00000586425.1_Splice_Site_p.G95C	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	95					aldehyde catabolic process (GO:0046185)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|hemostasis (GO:0007599)|humoral immune response (GO:0006959)|learning or memory (GO:0007611)|methylglyoxal biosynthetic process (GO:0019242)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucose-6-phosphate isomerase activity (GO:0004347)|intramolecular transferase activity (GO:0016866)|monosaccharide binding (GO:0048029)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					TAATCCCCAGGGTCGAGCCGT	0.597																																						ENST00000415930.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.e5-1		glucose-6-phosphate isomerase							96.0	79.0	85.0					19																	34859488		2203	4300	6503	SO:0001630	splice_region_variant	2821				angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity	g.chr19:34859488G>T	M61214	CCDS12437.1, CCDS54246.1	19q13.1	2012-10-02	2010-05-11			ENSG00000105220	5.3.1.9		4458	protein-coding gene	gene with protein product		172400	"""glucose phosphate isomerase"""			2387591, 8575767	Standard	NM_001184722		Approved	AMF, NLK	uc002nvg.2	P06744		ENST00000356487.5:c.283-1G>T	19.37:g.34859488G>T						GPI_ENST00000586425.1_Splice_Site_p.G95_splice|GPI_ENST00000356487.5_Splice_Site_p.G95_splice	p.G134_splice	NM_001184722.1	NP_001171651.1	P06744	G6PI_HUMAN			5	570	+	Esophageal squamous(110;0.162)		95					B4DG39|Q9BRD3|Q9BSK5|Q9UHE6	Splice_Site	SNP	ENST00000356487.5	37	c.399_splice	CCDS12437.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.646042	0.47258	.	.	ENSG00000105220	ENST00000415930;ENST00000356487	D;D	0.93247	-3.19;-3.19	5.76	-3.32	0.04973	.	0.492866	0.26442	N	0.024346	D	0.95133	0.8423	M	0.86097	2.795	0.35866	D	0.827862	P;D;P;P	0.60575	0.786;0.988;0.786;0.753	P;P;P;P	0.59288	0.823;0.855;0.823;0.648	D	0.94659	0.7846	9	.	.	.	-2.5604	13.3324	0.60495	0.6871:0.0:0.3129:0.0	.	95;134;78;95	B4DE36;B4DG39;B4DVJ0;P06744	.;.;.;G6PI_HUMAN	C	134;95	ENSP00000405573:G134C;ENSP00000348877:G95C	.	G	+	1	0	GPI	39551328	1.000000	0.71417	0.268000	0.24571	0.021000	0.10359	1.591000	0.36665	-0.716000	0.04962	-0.300000	0.09419	GGT		0.597	GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451693.3		Missense_Mutation	21	25	1	0	7.87624e-14	1	1.03012e-13	21	25				
HYDIN	54768	broad.mit.edu	37	16	70975619	70975619	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr16:70975619C>A	ENST00000393567.2	-	43	6923	c.6773G>T	c.(6772-6774)cGg>cTg	p.R2258L		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2258					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.R2257L(1)|p.R2209L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TATATGCTCCCGGCTGCCAAT	0.552																																						ENST00000393567.2																			2	Substitution - Missense(2)	p.R2257L(1)|p.R2209L(1)	lung(2)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(6772-6774)cGg>cTg		HYDIN, axonemal central pair apparatus protein							64.0	68.0	67.0					16																	70975619		1924	4120	6044	SO:0001583	missense	54768							g.chr16:70975619C>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.6773G>T	16.37:g.70975619C>A	ENSP00000377197:p.Arg2258Leu						p.R2258L	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			43	6923	-		Ovarian(137;0.0654)	2258					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.6773G>T	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.625481	0.87560	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01197	5.19	5.32	5.32	0.75619	.	0.000000	0.30593	U	0.009287	T	0.07954	0.0199	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.01156	-1.1434	10	0.72032	D	0.01	.	18.9511	0.92641	0.0:1.0:0.0:0.0	.	2257	F8WD23	.	L	2258;2257	ENSP00000377197:R2258L	ENSP00000313052:R2257L	R	-	2	0	HYDIN	69533120	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	3.461000	0.53035	2.649000	0.89929	0.508000	0.49915	CGG		0.552	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			31	52	1	0	2.75727e-19	1	3.78323e-19	31	52				
ADAD2	161931	broad.mit.edu	37	16	84229196	84229196	+	Silent	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr16:84229196C>T	ENST00000315906.5	+	6	997	c.945C>T	c.(943-945)tcC>tcT	p.S315S	RP11-486L19.2_ENST00000536986.1_RNA|RP11-486L19.2_ENST00000561900.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|ADAD2_ENST00000268624.3_Silent_p.S397S	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	315	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						AGGAGCAGTCCGTGCTGGCCC	0.677																																						ENST00000268624.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						c.(1189-1191)tcC>tcT		adenosine deaminase domain containing 2							23.0	29.0	27.0					16																	84229196		2200	4299	6499	SO:0001819	synonymous_variant	161931				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding	g.chr16:84229196C>T	AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.945C>T	16.37:g.84229196C>T						RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|ADAD2_ENST00000315906.5_Silent_p.S315S|RP11-486L19.2_ENST00000536986.1_RNA	p.S397S	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN			7	1284	+			315			A to I editase.		B2RCL6|Q8NA94	Silent	SNP	ENST00000315906.5	37	c.1191C>T	CCDS45536.1																																																																																				0.677	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433385.1	NM_139174		9	40	0	0	0	1	0	9	40				
BCAN	63827	broad.mit.edu	37	1	156616845	156616845	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:156616845C>T	ENST00000329117.5	+	3	680	c.344C>T	c.(343-345)gCg>gTg	p.A115V	BCAN_ENST00000361588.5_Missense_Mutation_p.A115V|RP11-284F21.10_ENST00000605886.1_RNA|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	115	Ig-like V-type.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.A115V(2)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCGTACCCAGCGTCGCTCACC	0.682																																						ENST00000329117.4																			2	Substitution - Missense(2)	p.A115V(2)	endometrium(2)	cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55						c.(343-345)gCg>gTg		brevican							45.0	32.0	37.0					1																	156616845		2203	4300	6503	SO:0001583	missense	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156616845C>T	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.344C>T	1.37:g.156616845C>T	ENSP00000331210:p.Ala115Val					RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.A115V	p.A115V	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN			3	680	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		115			Ig-like V-type.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	c.344C>T	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.756977	0.69648	.	.	ENSG00000132692	ENST00000441358;ENST00000255029;ENST00000329117;ENST00000457777;ENST00000361588	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	4.61	3.67	0.42095	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.207814	0.31051	N	0.008360	T	0.48409	0.1498	L	0.47716	1.5	0.22601	N	0.998944	D;D	0.65815	0.995;0.993	P;P	0.57846	0.828;0.621	T	0.34054	-0.9844	10	0.31617	T	0.26	-10.8211	6.5472	0.22412	0.1818:0.7259:0.0:0.0924	.	115;115	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	V	115	ENSP00000392731:A115V;ENSP00000331210:A115V;ENSP00000389898:A115V;ENSP00000354925:A115V	ENSP00000255029:A115V	A	+	2	0	BCAN	154883469	0.000000	0.05858	0.987000	0.45799	0.613000	0.37349	0.685000	0.25378	1.105000	0.41606	0.455000	0.32223	GCG		0.682	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		8	13	0	0	0	1	0	8	13				
SYTL2	54843	broad.mit.edu	37	11	85409099	85409099	+	Silent	SNP	T	T	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:85409099T>C	ENST00000528231.1	-	16	2653	c.2376A>G	c.(2374-2376)ggA>ggG	p.G792G	SYTL2_ENST00000359152.5_Silent_p.G1638G|SYTL2_ENST00000525423.1_Silent_p.G1114G|SYTL2_ENST00000389958.3_Silent_p.G223G|SYTL2_ENST00000533892.1_Silent_p.G194G|SYTL2_ENST00000529581.1_Silent_p.G234G|SYTL2_ENST00000527523.1_Silent_p.G760G|SYTL2_ENST00000525702.1_Silent_p.G234G|SYTL2_ENST00000389960.4_Silent_p.G768G|SYTL2_ENST00000354566.3_Silent_p.G1130G|SYTL2_ENST00000524452.1_Silent_p.G768G|SYTL2_ENST00000316356.4_Silent_p.G793G	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	792	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TGTGCACTTCTCCAGTTGTAG	0.398																																						ENST00000359152.5																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(4912-4914)ggA>ggG		synaptotagmin-like 2							89.0	83.0	85.0					11																	85409099		2203	4299	6502	SO:0001819	synonymous_variant	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85409099T>C	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.2376A>G	11.37:g.85409099T>C						SYTL2_ENST00000389958.3_Silent_p.G223G|SYTL2_ENST00000524452.1_Silent_p.G768G|SYTL2_ENST00000354566.3_Silent_p.G1130G|SYTL2_ENST00000316356.4_Silent_p.G793G|SYTL2_ENST00000533892.1_Silent_p.G194G|SYTL2_ENST00000389960.4_Silent_p.G768G|SYTL2_ENST00000528231.1_Silent_p.G792G|SYTL2_ENST00000527523.1_Silent_p.G760G|SYTL2_ENST00000529581.1_Silent_p.G234G|SYTL2_ENST00000525423.1_Silent_p.G1114G|SYTL2_ENST00000525702.1_Silent_p.G234G	p.G1638G	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	10	4913	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	792					B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Silent	SNP	ENST00000528231.1	37	c.4914A>G	CCDS53688.1																																																																																				0.398	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		23	41	0	0	0	1	0	23	41				
EDN1	1906	broad.mit.edu	37	6	12294602	12294602	+	Silent	SNP	C	C	A	rs367701522		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:12294602C>A	ENST00000379375.5	+	4	765	c.498C>A	c.(496-498)atC>atA	p.I166I		NM_001168319.1|NM_001955.4	NP_001161791.1|NP_001946.3	P05305	EDN1_HUMAN	endothelin 1	166					artery smooth muscle contraction (GO:0014824)|body fluid secretion (GO:0007589)|calcium-mediated signaling (GO:0019722)|cartilage development (GO:0051216)|cell growth (GO:0016049)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|dorsal/ventral pattern formation (GO:0009953)|epithelial fluid transport (GO:0042045)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose transport (GO:0015758)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|inositol phosphate-mediated signaling (GO:0048016)|leukocyte activation (GO:0045321)|maternal process involved in parturition (GO:0060137)|membrane depolarization (GO:0051899)|middle ear morphogenesis (GO:0042474)|multicellular organismal aging (GO:0010259)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of hormone secretion (GO:0046888)|negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|nitric oxide transport (GO:0030185)|patterning of blood vessels (GO:0001569)|peptide hormone secretion (GO:0030072)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase D-activating G-protein coupled receptor signaling pathway (GO:0031583)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell size (GO:0045793)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of heart rate (GO:0010460)|positive regulation of hormone secretion (GO:0046887)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of odontogenesis (GO:0042482)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of urine volume (GO:0035810)|prostaglandin biosynthetic process (GO:0001516)|protein kinase C deactivation (GO:0042313)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|respiratory gaseous exchange (GO:0007585)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to testosterone (GO:0033574)|rhythmic excitation (GO:0043179)|sensory perception of pain (GO:0019233)|superoxide anion generation (GO:0042554)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|endothelin A receptor binding (GO:0031707)|endothelin B receptor binding (GO:0031708)|hormone activity (GO:0005179)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)				GAAGAAAAATCAGAAGAAGTT	0.388																																						ENST00000379375.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13						c.(496-498)atC>atA		endothelin 1							87.0	89.0	88.0					6																	12294602		2203	4300	6503	SO:0001819	synonymous_variant	1906				artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of JUN kinase activity|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	cytoplasm|extracellular space	cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity	g.chr6:12294602C>A	S56805	CCDS4522.1	6p24.1	2014-03-19			ENSG00000078401	ENSG00000078401		"""Endogenous ligands"""	3176	protein-coding gene	gene with protein product		131240					Standard	NM_001168319		Approved	ET1	uc003nae.4	P05305	OTTHUMG00000014266	ENST00000379375.5:c.498C>A	6.37:g.12294602C>A							p.I166I	NM_001168319.1|NM_001955.4	NP_001161791.1|NP_001946.3	P05305	EDN1_HUMAN			4	765	+	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)	166					Q96DA1	Silent	SNP	ENST00000379375.5	37	c.498C>A	CCDS4522.1																																																																																				0.388	EDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039872.1	NM_001955		16	39	1	0	1.99824e-07	1	2.32689e-07	16	39				
FGF3	2248	broad.mit.edu	37	11	69625383	69625383	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:69625383A>T	ENST00000334134.2	-	3	500	c.410T>A	c.(409-411)gTg>gAg	p.V137E		NM_005247.2	NP_005238.1	P11487	FGF3_HUMAN	fibroblast growth factor 3	137					anatomical structure morphogenesis (GO:0009653)|cell-cell signaling (GO:0007267)|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)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cardiac muscle tissue development (GO:0055026)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|post-anal tail morphogenesis (GO:0036342)|semicircular canal morphogenesis (GO:0048752)|signal transduction (GO:0007165)|thymus development (GO:0048538)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	growth factor activity (GO:0008083)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			CGTACTAGACACCGTCCGGTA	0.657																																						ENST00000334134.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13						c.(409-411)gTg>gAg		fibroblast growth factor 3							31.0	38.0	35.0					11																	69625383		2197	4292	6489	SO:0001583	missense	2248				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity	g.chr11:69625383A>T		CCDS8195.1	11q13	2010-06-25	2010-06-25		ENSG00000186895	ENSG00000186895			3681	protein-coding gene	gene with protein product	"""INT-2 proto-oncogene protein"", ""oncogene INT2"", ""V-INT2 murine mammary tumor virus integration site oncogene homolog"", ""murine mammary tumor virus integration site 2, mouse"""	164950	"""fibroblast growth factor 3 (murine mammary tumor virus integration site (v-int-2) oncogene homolog)"""	INT2			Standard	NM_005247		Approved	HBGF-3	uc001oph.3	P11487	OTTHUMG00000167888	ENST00000334134.2:c.410T>A	11.37:g.69625383A>T	ENSP00000334122:p.Val137Glu						p.V137E	NM_005247.2	NP_005238.1	P11487	FGF3_HUMAN	LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)		3	500	-			137					Q0VG69	Missense_Mutation	SNP	ENST00000334134.2	37	c.410T>A	CCDS8195.1	.	.	.	.	.	.	.	.	.	.	A	0.031	-1.335404	0.01287	.	.	ENSG00000186895	ENST00000334134	T	0.65916	-0.18	3.92	-6.91	0.01649	.	0.638520	0.13965	U	0.350577	T	0.40094	0.1103	N	0.26042	0.785	0.26503	N	0.974748	P	0.35124	0.485	B	0.35655	0.207	T	0.31641	-0.9936	9	.	.	.	.	9.4476	0.38706	0.7265:0.1228:0.1507:0.0	.	137	P11487	FGF3_HUMAN	E	137	ENSP00000334122:V137E	.	V	-	2	0	FGF3	69334564	0.001000	0.12720	0.002000	0.10522	0.110000	0.19582	-0.177000	0.09796	-1.779000	0.01280	-0.464000	0.05259	GTG		0.657	FGF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396835.1	NM_005247		23	31	0	0	0	1	0	23	31				
RPS6KC1	26750	broad.mit.edu	37	1	213349785	213349785	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:213349785A>T	ENST00000366960.3	+	8	1144	c.994A>T	c.(994-996)Agc>Tgc	p.S332C	RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.S320C|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.S35C|RPS6KC1_ENST00000543470.1_Intron	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	332					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		GAACCTAAGGAGCCCTGCCGA	0.473																																						ENST00000366960.3																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43						c.(994-996)Agc>Tgc		ribosomal protein S6 kinase, 52kDa, polypeptide 1							144.0	144.0	144.0					1																	213349785		2203	4300	6503	SO:0001583	missense	26750				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	g.chr1:213349785A>T	AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.994A>T	1.37:g.213349785A>T	ENSP00000355927:p.Ser332Cys					RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_Intron|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.S35C|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.S320C	p.S332C	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)	8	1144	+			332					B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	ENST00000366960.3	37	c.994A>T	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.943279	0.73672	.	.	ENSG00000136643	ENST00000366960;ENST00000366959;ENST00000543354	T;T;T	0.49139	1.8;1.8;0.79	5.86	5.86	0.93980	.	0.046006	0.85682	D	0.000000	T	0.61236	0.2331	L	0.40543	1.245	0.54753	D	0.999988	D;D	0.89917	1.0;1.0	D;D	0.72982	0.979;0.979	T	0.63959	-0.6519	10	0.87932	D	0	-3.3406	16.2526	0.82494	1.0:0.0:0.0:0.0	.	332;320	Q96S38;B1APS8	KS6C1_HUMAN;.	C	332;320;35	ENSP00000355927:S332C;ENSP00000355926:S320C;ENSP00000439282:S35C	ENSP00000355926:S320C	S	+	1	0	RPS6KC1	211416408	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.807000	0.69157	2.241000	0.73720	0.482000	0.46254	AGC		0.473	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424		25	49	0	0	0	1	0	25	49				
CNTNAP5	129684	broad.mit.edu	37	2	125530379	125530379	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:125530379C>A	ENST00000431078.1	+	17	2898	c.2534C>A	c.(2533-2535)cCt>cAt	p.P845H		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	845	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GTTTCAGCTCCTTCAGAGATC	0.473																																						ENST00000431078.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(2533-2535)cCt>cAt		contactin associated protein-like 5							143.0	132.0	135.0					2																	125530379		1931	4127	6058	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125530379C>A	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2534C>A	2.37:g.125530379C>A	ENSP00000399013:p.Pro845His						p.P845H	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	17	2898	+			845			Laminin G-like 3.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.2534C>A	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	c	23.7	4.444222	0.83993	.	.	ENSG00000155052	ENST00000431078	T	0.77489	-1.1	5.49	5.49	0.81192	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.47093	D	0.000248	D	0.89757	0.6807	M	0.90650	3.135	0.80722	D	1	D	0.58970	0.984	D	0.63113	0.911	D	0.91485	0.5207	10	0.72032	D	0.01	.	18.3771	0.90439	0.0:1.0:0.0:0.0	.	845	Q8WYK1	CNTP5_HUMAN	H	845	ENSP00000399013:P845H	ENSP00000399013:P845H	P	+	2	0	CNTNAP5	125246849	1.000000	0.71417	0.953000	0.39169	0.792000	0.44763	7.686000	0.84128	2.594000	0.87642	0.645000	0.84053	CCT		0.473	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			14	27	1	0	0.0167234	1	0.017412	14	27				
PRSS50	29122	broad.mit.edu	37	3	46754406	46754406	+	Silent	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr3:46754406C>T	ENST00000460241.1	-	10	2576	c.906G>A	c.(904-906)agG>agA	p.R302R	PRSS50_ENST00000315170.7_Silent_p.R302R			Q9UI38	TSP50_HUMAN	protease, serine, 50	302	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	serine-type endopeptidase activity (GO:0004252)|threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						AGAACTTCTCCCTGTGGGTGT	0.557																																					Pancreas(41;915 1239 11561 17469)	ENST00000460241.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(904-906)agG>agA		protease, serine, 50							223.0	198.0	206.0					3																	46754406		2203	4300	6503	SO:0001819	synonymous_variant	29122				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity	g.chr3:46754406C>T	AF100707	CCDS2745.1	3p21.31	2011-05-24			ENSG00000206549	ENSG00000206549		"""Serine peptidases / Serine peptidases"""	17910	protein-coding gene	gene with protein product	"""cancer/testis antigen 20"", ""testes specific protease 50"""	607950				10397268	Standard	NM_013270		Approved	TSP50, CT20	uc003cqe.1	Q9UI38	OTTHUMG00000164067	ENST00000460241.1:c.906G>A	3.37:g.46754406C>T						PRSS50_ENST00000315170.7_Silent_p.R302R	p.R302R			Q9UI38	TSP50_HUMAN			10	2576	-			302			Peptidase S1.			Silent	SNP	ENST00000460241.1	37	c.906G>A	CCDS2745.1																																																																																				0.557	PRSS50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354544.1			43	22	0	0	0	1	0	43	22				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			100294341							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		4	65	0	0	0	1	0	4	65				
C1orf112	55732	broad.mit.edu	37	1	169772434	169772434	+	Missense_Mutation	SNP	C	C	G	rs180687535		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:169772434C>G	ENST00000286031.6	+	5	996	c.296C>G	c.(295-297)aCa>aGa	p.T99R	C1orf112_ENST00000456684.1_Missense_Mutation_p.T157R|C1orf112_ENST00000359326.4_Missense_Mutation_p.T99R|C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000413811.2_Missense_Mutation_p.T70R	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	99										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATTAAAAGCACATTTGTGCAT	0.353																																						ENST00000286031.6																			0				breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34						c.(295-297)aCa>aGa		chromosome 1 open reading frame 112							60.0	59.0	60.0					1																	169772434		2203	4300	6503	SO:0001583	missense	55732							g.chr1:169772434C>G	AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.296C>G	1.37:g.169772434C>G	ENSP00000286031:p.Thr99Arg					C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000359326.4_Missense_Mutation_p.T99R|C1orf112_ENST00000413811.2_Missense_Mutation_p.T70R|C1orf112_ENST00000456684.1_Missense_Mutation_p.T157R	p.T99R	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN			5	996	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		99					A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Missense_Mutation	SNP	ENST00000286031.6	37	c.296C>G	CCDS1285.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.391336	0.83011	.	.	ENSG00000000460	ENST00000413811;ENST00000359326;ENST00000456684;ENST00000286031	T;T;T	0.66460	0.72;-0.21;0.72	6.04	6.04	0.98038	.	0.088562	0.85682	D	0.000000	T	0.79516	0.4459	M	0.74881	2.28	0.44214	D	0.997046	D;D;D;D	0.69078	0.989;0.997;0.997;0.989	P;D;D;P	0.69307	0.847;0.963;0.959;0.79	T	0.80207	-0.1478	10	0.87932	D	0	-9.5045	19.1586	0.93522	0.0:1.0:0.0:0.0	.	70;41;99;157	B4E0A9;B4DGF2;Q9NSG2;B4DRP7	.;.;CA112_HUMAN;.	R	70;99;157;99	ENSP00000352276:T99R;ENSP00000415583:T157R;ENSP00000286031:T99R	ENSP00000286031:T99R	T	+	2	0	C1orf112	168039058	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.847000	0.62867	2.873000	0.98535	0.563000	0.77884	ACA		0.353	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087126.3	NM_018186		12	13	0	0	0	1	0	12	13				
ALK	238	broad.mit.edu	37	2	30143171	30143171	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:30143171C>A	ENST00000389048.3	-	1	1261	c.355G>T	c.(355-357)Gag>Tag	p.E119*	ALK_ENST00000431873.1_Nonsense_Mutation_p.E119*	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	119					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	GTCCGGGCCTCTGCCGGGGCT	0.731			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000389048.3			yes	Dom	yes	Familial neuroblastoma	2	2p23	238	"""T, Mis, A"""	anaplastic lymphoma kinase (Ki-1)			"""L, E, M"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	neuroblastoma	"""ALCL, NSCLC, Neuroblastoma"""	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	0				NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340						c.(355-357)Gag>Tag		anaplastic lymphoma receptor tyrosine kinase	Adenosine triphosphate(DB00171)						3.0	5.0	4.0					2																	30143171		1900	3815	5715	SO:0001587	stop_gained	238	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:30143171C>A	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.355G>T	2.37:g.30143171C>A	ENSP00000373700:p.Glu119*					ALK_ENST00000431873.1_Nonsense_Mutation_p.E119*	p.E119*	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN			1	1261	-	Acute lymphoblastic leukemia(172;0.155)		119					Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Nonsense_Mutation	SNP	ENST00000389048.3	37	c.355G>T	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	C	43	9.943529	0.99302	.	.	ENSG00000171094	ENST00000389048;ENST00000431873	.	.	.	4.08	-1.01	0.10169	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.3408	0.21322	0.0:0.1666:0.5124:0.3209	.	.	.	.	X	119	.	.	E	-	1	0	ALK	29996675	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-0.364000	0.07583	-0.003000	0.14444	0.561000	0.74099	GAG		0.731	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		3	0	1	0	0.004672	1	0.00491254	3	0				
NRD1	4898	broad.mit.edu	37	1	52305985	52305985	+	Silent	SNP	T	T	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:52305985T>C	ENST00000354831.7	-	2	732	c.543A>G	c.(541-543)gaA>gaG	p.E181E	NRD1_ENST00000539524.1_Silent_p.E49E|NRD1_ENST00000544028.1_Silent_p.E49E|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Silent_p.E181E	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	0	Asp/Glu-rich (highly acidic).				cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						catcatcatgttcatcatcaa	0.373																																						ENST00000354831.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						c.(541-543)gaA>gaG		nardilysin (N-arginine dibasic convertase)							244.0	203.0	216.0					1																	52305985		2202	4300	6502	SO:0001819	synonymous_variant	4898				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	g.chr1:52305985T>C	X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.543A>G	1.37:g.52305985T>C						NRD1_ENST00000352171.7_Silent_p.E181E|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000544028.1_Silent_p.E49E|NRD1_ENST00000539524.1_Silent_p.E49E	p.E181E	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN			2	732	-			178			Asp/Glu-rich (highly acidic).		A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Silent	SNP	ENST00000354831.7	37	c.543A>G	CCDS559.1																																																																																				0.373	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525		5	8	0	0	0	1	0	5	8				
OR13J1	392309	broad.mit.edu	37	9	35869556	35869556	+	Silent	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:35869556G>T	ENST00000377981.2	-	1	905	c.843C>A	c.(841-843)gtC>gtA	p.V281V		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, member 1	281						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			GCATGGTCGTGACCATGGCAT	0.557																																						ENST00000377981.2																			0				central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6						c.(841-843)gtC>gtA		olfactory receptor, family 13, subfamily J, member 1							102.0	91.0	95.0					9																	35869556		2203	4300	6503	SO:0001819	synonymous_variant	392309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:35869556G>T		CCDS35011.1	9p13.3	2013-09-24			ENSG00000168828	ENSG00000168828		"""GPCR / Class A : Olfactory receptors"""	15108	protein-coding gene	gene with protein product							Standard	NM_001004487		Approved		uc011lph.2	Q8NGT2	OTTHUMG00000019879	ENST00000377981.2:c.843C>A	9.37:g.35869556G>T							p.V281V	NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)		1	905	-	all_epithelial(49;0.169)		281					B2RN66|Q6IF20|Q96R40	Silent	SNP	ENST00000377981.2	37	c.843C>A	CCDS35011.1																																																																																				0.557	OR13J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052381.1			9	12	1	0	5.4927e-09	1	6.62869e-09	9	12				
RTL1	388015	broad.mit.edu	37	14	101347319	101347319	+	Silent	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr14:101347319G>T	ENST00000534062.1	-	1	3865	c.3807C>A	c.(3805-3807)ccC>ccA	p.P1269P	MIR127_ENST00000384876.1_RNA|MIR431_ENST00000385266.1_RNA|MIR433_ENST00000384837.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	1269					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						CTGTGTGGCTGGGTGGGGCCT	0.637																																						ENST00000534062.1																			0				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						c.(3805-3807)ccC>ccA		retrotransposon-like 1							11.0	13.0	12.0					14																	101347319		1552	3562	5114	SO:0001819	synonymous_variant	388015							g.chr14:101347319G>T		CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.3807C>A	14.37:g.101347319G>T							p.P1269P	NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN			1	3865	-			1269					E9PKS8	Silent	SNP	ENST00000534062.1	37	c.3807C>A	CCDS53910.1																																																																																				0.637	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395127.1	NM_001134888		4	1	1	0	0.014758	1	0.0153959	4	1				
HEXIM1	10614	broad.mit.edu	37	17	43227434	43227434	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:43227434G>T	ENST00000332499.2	+	1	2751	c.877G>T	c.(877-879)Gaa>Taa	p.E293*	AC002117.1_ENST00000452741.1_RNA|AC002117.1_ENST00000589950.1_RNA	NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	293	Mediates interaction with CCNT1.				heart development (GO:0007507)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|snRNA binding (GO:0017069)			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GGAGTACCTGGAACTGGAGAA	0.627																																						ENST00000332499.2																			0				breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(877-879)Gaa>Taa		hexamethylene bis-acetamide inducible 1							60.0	70.0	67.0					17																	43227434		2203	4300	6503	SO:0001587	stop_gained	10614				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding	g.chr17:43227434G>T	AB021179	CCDS11495.1	17q21.31	2006-03-28				ENSG00000186834			24953	protein-coding gene	gene with protein product		607328				12119119, 12832472	Standard	NM_006460		Approved	CLP-1, HIS1, MAQ1, EDG1	uc002iig.3	O94992		ENST00000332499.2:c.877G>T	17.37:g.43227434G>T	ENSP00000328773:p.Glu293*						p.E293*	NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN			1	2751	+			293			Mediates interaction with CCNT1.		B2R8Y5	Nonsense_Mutation	SNP	ENST00000332499.2	37	c.877G>T	CCDS11495.1	.	.	.	.	.	.	.	.	.	.	G	51	18.387097	0.99904	.	.	ENSG00000186834	ENST00000332499	.	.	.	4.48	4.48	0.54585	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-19.8868	15.8819	0.79211	0.0:0.0:1.0:0.0	.	.	.	.	X	293	.	ENSP00000328773:E293X	E	+	1	0	HEXIM1	40583217	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.488000	0.97947	2.338000	0.79540	0.561000	0.74099	GAA		0.627	HEXIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449821.2	NM_006460		31	50	1	0	3.57733e-08	1	4.24009e-08	31	50				
OR2T10	127069	broad.mit.edu	37	1	248756314	248756314	+	Silent	SNP	A	A	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:248756314A>G	ENST00000330500.2	-	1	786	c.756T>C	c.(754-756)taT>taC	p.Y252Y	Y_RNA_ENST00000364732.1_RNA	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	252						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	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)			TAGCAGCTCCATAGAAGAGGC	0.453																																						ENST00000330500.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26						c.(754-756)taT>taC		olfactory receptor, family 2, subfamily T, member 10							69.0	71.0	70.0					1																	248756314		2049	4236	6285	SO:0001819	synonymous_variant	127069				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248756314A>G		CCDS31121.1	1q44	2012-08-09			ENSG00000184022	ENSG00000184022		"""GPCR / Class A : Olfactory receptors"""	19573	protein-coding gene	gene with protein product							Standard	NM_001004693		Approved		uc010pzn.2	Q8NGZ9	OTTHUMG00000040388	ENST00000330500.2:c.756T>C	1.37:g.248756314A>G							p.Y252Y	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	786	-	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)		252					B2RNK7	Silent	SNP	ENST00000330500.2	37	c.756T>C	CCDS31121.1																																																																																				0.453	OR2T10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097139.1	NM_001004693		13	10	0	0	0	1	0	13	10				
APOB	338	broad.mit.edu	37	2	21231607	21231607	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:21231607G>T	ENST00000233242.1	-	26	8260	c.8133C>A	c.(8131-8133)ttC>ttA	p.F2711L		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2711					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)					CTGGTAAACGGAAGTCTGGCA	0.463																																						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.(8131-8133)ttC>ttA		apolipoprotein B	Atorvastatin(DB01076)						156.0	159.0	158.0					2																	21231607		2203	4300	6503	SO:0001583	missense	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.chr2:21231607G>T	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.8133C>A	2.37:g.21231607G>T	ENSP00000233242:p.Phe2711Leu						p.F2711L	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	8260	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2711					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.8133C>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	1.609	-0.524539	0.04141	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00649	5.98	5.22	5.22	0.72569	.	0.225081	0.31685	N	0.007221	T	0.00666	0.0022	L	0.35288	1.05	0.80722	D	1	B	0.17852	0.024	B	0.12156	0.007	T	0.65705	-0.6103	10	0.16896	T	0.51	.	9.775	0.40614	0.0:0.3072:0.5626:0.1301	.	2711	P04114	APOB_HUMAN	L	2711	ENSP00000233242:F2711L	ENSP00000233242:F2711L	F	-	3	2	APOB	21085112	0.003000	0.15002	0.853000	0.33588	0.176000	0.22953	-0.010000	0.12743	2.437000	0.82529	0.561000	0.74099	TTC		0.463	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			43	99	1	0	5.20837e-25	1	7.4146e-25	43	99				
CFP	5199	broad.mit.edu	37	X	47486251	47486251	+	Silent	SNP	A	A	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chrX:47486251A>G	ENST00000396992.3	-	6	981	c.861T>C	c.(859-861)ccT>ccC	p.P287P	CFP_ENST00000377005.2_Silent_p.P287P|CFP_ENST00000247153.3_Silent_p.P287P|CFP_ENST00000480317.1_5'Flank	NM_001145252.1	NP_001138724.1	P27918	PROP_HUMAN	complement factor properdin	287	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						GCTGGGGCACAGGGTGATTGC	0.667																																						ENST00000247153.3																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						c.(859-861)ccT>ccC		complement factor properdin							41.0	38.0	39.0					X																	47486251		2203	4299	6502	SO:0001819	synonymous_variant	5199				complement activation, alternative pathway|defense response to bacterium	extracellular space		g.chrX:47486251A>G	M83652	CCDS14282.1	Xp11.4	2014-09-17	2006-03-02	2006-03-02	ENSG00000126759	ENSG00000126759		"""Complement system"""	8864	protein-coding gene	gene with protein product		300383	"""properdin P factor, complement"""	PFC		1783405	Standard	NM_001145252		Approved		uc004dih.3	P27918	OTTHUMG00000021451	ENST00000396992.3:c.861T>C	X.37:g.47486251A>G						CFP_ENST00000396992.3_Silent_p.P287P|CFP_ENST00000377005.2_Silent_p.P287P	p.P287P	NM_002621.2	NP_002612.1	P27918	PROP_HUMAN			7	1102	-			287			TSP type-1 4.		O15134|O15135|O15136|O75826	Silent	SNP	ENST00000396992.3	37	c.861T>C	CCDS14282.1																																																																																				0.667	CFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056435.2	NM_002621		9	4	0	0	0	1	0	9	4				
MAP10	54627	broad.mit.edu	37	1	232940896	232940896	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:232940896G>A	ENST00000418460.1	+	1	254	c.127G>A	c.(127-129)Gat>Aat	p.D43N		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	0					cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)										GATCTGCAGTGATAAAACCAT	0.388																																						ENST00000418460.1																			0											c.(127-129)Gat>Aat		microtubule-associated protein 10							208.0	207.0	207.0					1																	232940896		1866	4105	5971	SO:0001583	missense	54627							g.chr1:232940896G>A	AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"""microtubule regulator 120 KDa"""		"""KIAA1383"""	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.127G>A	1.37:g.232940896G>A	ENSP00000403208:p.Asp43Asn						p.D43N	NM_019090.2	NP_061963.2					1	254	+								A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Missense_Mutation	SNP	ENST00000418460.1	37	c.127G>A	CCDS44334.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019706	0.75275	.	.	ENSG00000212916	ENST00000418460	.	.	.	3.3	1.02	0.19986	.	.	.	.	.	T	0.37404	0.1002	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.37526	-0.9702	5	0.87932	D	0	.	3.7018	0.08386	0.1303:0.0:0.5521:0.3177	.	.	.	.	N	43	.	ENSP00000403208:D43N	D	+	1	0	KIAA1383	231007519	0.002000	0.14202	0.000000	0.03702	0.635000	0.38103	1.015000	0.29963	0.253000	0.21552	0.313000	0.20887	GAT		0.388	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092317.3	NM_019090		5	189	0	0	0	1	0	5	189				
SLC35F1	222553	broad.mit.edu	37	6	118475755	118475755	+	Silent	SNP	C	C	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:118475755C>G	ENST00000360388.4	+	2	522	c.321C>G	c.(319-321)gtC>gtG	p.V107V		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	107					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TCTTCTTGGTCTATACCACCA	0.408																																						ENST00000360388.4																			0				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(319-321)gtC>gtG		solute carrier family 35, member F1							177.0	170.0	172.0					6																	118475755		2203	4300	6503	SO:0001819	synonymous_variant	222553				transport	integral to membrane		g.chr6:118475755C>G	BC028615	CCDS34524.1	6q22.31	2013-05-22			ENSG00000196376	ENSG00000196376		"""Solute carriers"""	21483	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 169"""	C6orf169			Standard	NM_001029858		Approved	dJ230I3.1	uc003pxx.4	Q5T1Q4	OTTHUMG00000015460	ENST00000360388.4:c.321C>G	6.37:g.118475755C>G							p.V107V	NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN		GBM - Glioblastoma multiforme(226;0.217)	2	522	+			107					E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Silent	SNP	ENST00000360388.4	37	c.321C>G	CCDS34524.1																																																																																				0.408	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041991.2	XM_167044		39	71	0	0	0	1	0	39	71				
TRMT61B	55006	broad.mit.edu	37	2	29092739	29092739	+	Silent	SNP	T	T	C	rs538894898		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:29092739T>C	ENST00000306108.5	-	1	428	c.405A>G	c.(403-405)gaA>gaG	p.E135E		NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	135					mitochondrial tRNA methylation (GO:0070901)|protein homooligomerization (GO:0051260)	mitochondrion (GO:0005739)|tRNA (m1A) methyltransferase complex (GO:0031515)	tRNA (adenine-N1-)-methyltransferase activity (GO:0016429)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						CGTGACGCTCTTCGACCTCGG	0.577													T|||	1	0.000199681	0.0	0.0	5008	,	,		18956	0.0		0.0	False		,,,				2504	0.001					ENST00000306108.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						c.(403-405)gaA>gaG		tRNA methyltransferase 61 homolog B (S. cerevisiae)							38.0	41.0	40.0					2																	29092739		2203	4300	6503	SO:0001819	synonymous_variant	55006						tRNA (adenine-N1-)-methyltransferase activity	g.chr2:29092739T>C	BC010365	CCDS1768.1	2p23.2	2009-01-09			ENSG00000171103	ENSG00000171103			26070	protein-coding gene	gene with protein product						11230166	Standard	NM_017910		Approved	FLJ20628	uc002rmm.3	Q9BVS5	OTTHUMG00000128433	ENST00000306108.5:c.405A>G	2.37:g.29092739T>C							p.E135E	NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN			1	428	-			135					Q9H0Q9|Q9NWS7	Silent	SNP	ENST00000306108.5	37	c.405A>G	CCDS1768.1																																																																																				0.577	TRMT61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250224.1	NM_017910		17	19	0	0	0	1	0	17	19				
SPAG17	200162	broad.mit.edu	37	1	118623726	118623726	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:118623726A>G	ENST00000336338.5	-	15	2272	c.2207T>C	c.(2206-2208)cTg>cCg	p.L736P		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	736				L -> P (in Ref. 3; BAC03753). {ECO:0000305}.		cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TAACTTACCCAGAGACTCATG	0.383																																						ENST00000336338.5																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(2206-2208)cTg>cCg		sperm associated antigen 17							130.0	119.0	123.0					1																	118623726		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118623726A>G		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.2207T>C	1.37:g.118623726A>G	ENSP00000337804:p.Leu736Pro						p.L736P	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	15	2272	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	736	L -> P (in Ref. 3; BAC03753).				Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.2207T>C	CCDS899.1	.	.	.	.	.	.	.	.	.	.	A	7.254	0.603756	0.14002	.	.	ENSG00000155761	ENST00000336338	T	0.34859	1.34	4.24	0.513	0.17000	.	0.700209	0.13840	N	0.359092	T	0.09905	0.0243	L	0.40543	1.245	0.09310	N	1	P	0.39624	0.681	B	0.39419	0.299	T	0.15752	-1.0426	10	0.31617	T	0.26	.	2.572	0.04797	0.5697:0.0:0.2323:0.198	.	736	Q6Q759	SPG17_HUMAN	P	736	ENSP00000337804:L736P	ENSP00000337804:L736P	L	-	2	0	SPAG17	118425249	0.002000	0.14202	0.000000	0.03702	0.058000	0.15608	0.585000	0.23879	0.072000	0.16694	0.482000	0.46254	CTG		0.383	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		12	51	0	0	0	1	0	12	51				
ANKRD16	54522	broad.mit.edu	37	10	5931249	5931249	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr10:5931249C>A	ENST00000380094.5	-	1	612	c.69G>T	c.(67-69)aaG>aaT	p.K23N	FBXO18_ENST00000397269.3_5'Flank|ANKRD16_ENST00000380092.4_Missense_Mutation_p.K23N|ANKRD16_ENST00000191063.8_Missense_Mutation_p.K23N|FBXO18_ENST00000362091.4_5'Flank	NM_019046.2	NP_061919.1	Q6P6B7	ANR16_HUMAN	ankyrin repeat domain 16	23										breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2)	12						GCAGCTCCTCCTTCAGGGCGC	0.801																																						ENST00000380094.5																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2)	12						c.(67-69)aaG>aaT		ankyrin repeat domain 16							2.0	3.0	2.0					10																	5931249		1296	2737	4033	SO:0001583	missense	54522							g.chr10:5931249C>A	AL137614	CCDS31136.1, CCDS31137.1	10p15.1	2013-01-10			ENSG00000134461	ENSG00000134461		"""Ankyrin repeat domain containing"""	23471	protein-coding gene	gene with protein product							Standard	NM_019046		Approved	DKFZP434N1511	uc010qat.2	Q6P6B7	OTTHUMG00000017610	ENST00000380094.5:c.69G>T	10.37:g.5931249C>A	ENSP00000369436:p.Lys23Asn					ANKRD16_ENST00000191063.8_Missense_Mutation_p.K23N|ANKRD16_ENST00000380092.4_Missense_Mutation_p.K23N	p.K23N	NM_019046.2	NP_061919.1	Q6P6B7	ANR16_HUMAN			1	612	-			23					A6NEF0|F8WEI4|Q9NT01	Missense_Mutation	SNP	ENST00000380094.5	37	c.69G>T	CCDS31136.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.710772	0.48517	.	.	ENSG00000134461	ENST00000380094;ENST00000380092;ENST00000191063	T;T;T	0.66280	-0.2;-0.2;0.12	4.79	1.22	0.21188	Ankyrin repeat-containing domain (1);	0.628064	0.16944	N	0.193160	T	0.50922	0.1644	L	0.49455	1.56	0.30432	N	0.777084	B;B;B	0.27416	0.01;0.001;0.178	B;B;B	0.23852	0.014;0.002;0.049	T	0.53556	-0.8422	10	0.62326	D	0.03	-5.6681	7.3424	0.26644	0.0:0.561:0.2955:0.1434	.	23;23;23	Q6P6B7;C9JP28;F8WEI4	ANR16_HUMAN;.;.	N	23	ENSP00000369436:K23N;ENSP00000369434:K23N;ENSP00000352361:K23N	ENSP00000352361:K23N	K	-	3	2	ANKRD16	5971255	0.381000	0.25140	0.992000	0.48379	0.842000	0.47809	0.349000	0.20055	0.520000	0.28426	0.430000	0.28490	AAG		0.801	ANKRD16-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046611.2	XM_166138		2	0	1	0	0.0784	1	0.0800585	2	0				
SMC3	9126	broad.mit.edu	37	10	112361903	112361903	+	Silent	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr10:112361903G>T	ENST00000361804.4	+	25	3198	c.3072G>T	c.(3070-3072)cgG>cgT	p.R1024R		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	1024					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		TTGAACTTCGGAAATATGAAG	0.348																																						ENST00000361804.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(3070-3072)cgG>cgT		structural maintenance of chromosomes 3							65.0	68.0	67.0					10																	112361903		2203	4300	6503	SO:0001819	synonymous_variant	9126				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	g.chr10:112361903G>T	AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"""Structural maintenance of chromosomes proteins"", ""Proteoglycans / Extracellular Matrix : Other"""	2468	protein-coding gene	gene with protein product	"""bamacan proteoglycan"""	606062	"""chondroitin sulfate proteoglycan 6 (bamacan)"""	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.3072G>T	10.37:g.112361903G>T							p.R1024R	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)	25	3198	+		Breast(234;0.0848)|Lung NSC(174;0.238)	1024					A8K156|O60464|Q5T482	Silent	SNP	ENST00000361804.4	37	c.3072G>T	CCDS31285.1																																																																																				0.348	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445		48	16	1	0	2.55665e-31	1	3.7194e-31	48	16				
OR4M2	390538	broad.mit.edu	37	15	22369286	22369286	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr15:22369286G>T	ENST00000332663.2	+	1	809	c.711G>T	c.(709-711)agG>agT	p.R237S	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATACCAACAGGGCCATGTCCA	0.458																																						ENST00000332663.2																			0				NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63						c.(709-711)agG>agT		olfactory receptor, family 4, subfamily M, member 2							289.0	199.0	230.0					15																	22369286		2203	4300	6503	SO:0001583	missense	390538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22369286G>T	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.711G>T	15.37:g.22369286G>T	ENSP00000329467:p.Arg237Ser					RP11-69H14.6_ENST00000558896.1_RNA	p.R237S	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	809	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	237					B9EH16|Q6IEY2	Missense_Mutation	SNP	ENST00000332663.2	37	c.711G>T	CCDS32172.1	.	.	.	.	.	.	.	.	.	.	.	13.54	2.267518	0.40095	.	.	ENSG00000182974	ENST00000332663	T	0.00179	8.61	2.28	1.33	0.21861	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000127	T	0.00210	0.0006	M	0.64997	1.995	0.34152	D	0.667683	P	0.45768	0.866	P	0.45660	0.489	T	0.68926	-0.5280	10	0.87932	D	0	-9.6388	4.5398	0.12052	0.3362:0.0:0.6638:0.0	.	237	Q8NGB6	OR4M2_HUMAN	S	237	ENSP00000329467:R237S	ENSP00000329467:R237S	R	+	3	2	OR4M2	19870650	1.000000	0.71417	0.985000	0.45067	0.933000	0.57130	0.724000	0.25954	0.308000	0.22923	-0.406000	0.06334	AGG		0.458	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			35	133	1	0	2.75727e-19	1	3.78323e-19	35	133				
OR4K13	390433	broad.mit.edu	37	14	20502211	20502211	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr14:20502211G>A	ENST00000315693.2	-	1	708	c.707C>T	c.(706-708)gCt>gTt	p.A236V	AL359218.1_ENST00000580563.1_RNA	NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AGTGGAGAAAGCCTTAGAGGA	0.483																																						ENST00000315693.2																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24						c.(706-708)gCt>gTt		olfactory receptor, family 4, subfamily K, member 13							134.0	120.0	124.0					14																	20502211		2203	4300	6503	SO:0001583	missense	390433				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20502211G>A		CCDS32028.1	14q11.2	2013-09-23			ENSG00000176253	ENSG00000176253		"""GPCR / Class A : Olfactory receptors"""	15351	protein-coding gene	gene with protein product							Standard	NM_001004714		Approved		uc010tkz.2	Q8NH42	OTTHUMG00000170781	ENST00000315693.2:c.707C>T	14.37:g.20502211G>A	ENSP00000319322:p.Ala236Val						p.A236V	NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	1	708	-	all_cancers(95;0.00108)		236					Q6IF13	Missense_Mutation	SNP	ENST00000315693.2	37	c.707C>T	CCDS32028.1	.	.	.	.	.	.	.	.	.	.	.	12.90	2.076136	0.36662	.	.	ENSG00000176253	ENST00000315693	T	0.00342	8.03	3.46	2.54	0.30619	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38778	U	0.001562	T	0.00608	0.0020	M	0.79805	2.47	0.32611	N	0.52457	D	0.59357	0.985	P	0.59012	0.85	T	0.46162	-0.9211	10	0.87932	D	0	.	10.772	0.46327	0.0:0.0:0.8082:0.1918	.	236	Q8NH42	OR4KD_HUMAN	V	236	ENSP00000319322:A236V	ENSP00000319322:A236V	A	-	2	0	OR4K13	19572051	1.000000	0.71417	0.026000	0.17262	0.101000	0.19017	5.195000	0.65131	0.621000	0.30232	0.514000	0.50259	GCT		0.483	OR4K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410344.1			22	35	0	0	0	1	0	22	35				
ABCA13	154664	broad.mit.edu	37	7	48353837	48353837	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:48353837A>T	ENST00000435803.1	+	26	9714	c.9690A>T	c.(9688-9690)caA>caT	p.Q3230H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3230					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AGGTTTCACAAAATGTCCAGG	0.368																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(9688-9690)caA>caT		ATP-binding cassette, sub-family A (ABC1), member 13							77.0	76.0	76.0					7																	48353837		1834	4087	5921	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48353837A>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.9690A>T	7.37:g.48353837A>T	ENSP00000411096:p.Gln3230His						p.Q3230H	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			26	9714	+			3230					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.9690A>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.281911	0.80692	.	.	ENSG00000179869	ENST00000435803	D	0.85861	-2.04	5.7	-10.2	0.00374	.	0.469270	0.17801	N	0.161548	T	0.70842	0.3270	L	0.48642	1.525	0.09310	N	1	B;B	0.30281	0.01;0.275	B;B	0.17722	0.01;0.019	T	0.50242	-0.8851	10	0.37606	T	0.19	.	10.9614	0.47387	0.2615:0.2159:0.5226:0.0	.	932;3230	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	H	3230	ENSP00000411096:Q3230H	ENSP00000411096:Q3230H	Q	+	3	2	ABCA13	48324383	0.000000	0.05858	0.000000	0.03702	0.707000	0.40811	-2.577000	0.00909	-2.017000	0.00944	0.533000	0.62120	CAA		0.368	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		6	16	0	0	0	1	0	6	16				
ZNF836	162962	broad.mit.edu	37	19	52658865	52658865	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:52658865C>G	ENST00000322146.8	-	5	2592	c.2071G>C	c.(2071-2073)Gag>Cag	p.E691Q	ZNF836_ENST00000597252.1_Missense_Mutation_p.E691Q|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	691					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(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TAAGGTTTCTCTCCAGTATGA	0.383																																						ENST00000322146.8																			0				endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(2071-2073)Gag>Cag		zinc finger protein 836							72.0	77.0	75.0					19																	52658865		2077	4250	6327	SO:0001583	missense	162962				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52658865C>G	BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"""Zinc fingers, C2H2-type"", ""-"""	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.2071G>C	19.37:g.52658865C>G	ENSP00000325038:p.Glu691Gln					ZNF836_ENST00000597252.1_Missense_Mutation_p.E691Q|CTC-471J1.8_ENST00000594362.1_RNA	p.E691Q	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN			5	2592	-			691						Missense_Mutation	SNP	ENST00000322146.8	37	c.2071G>C	CCDS46162.1	.	.	.	.	.	.	.	.	.	.	c	11.59	1.683918	0.29872	.	.	ENSG00000196267	ENST00000322146	T	0.25912	1.77	2.24	-1.87	0.07737	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24547	0.0595	M	0.84511	2.7	0.19575	N	0.999961	P	0.44195	0.828	B	0.35899	0.213	T	0.18429	-1.0337	9	0.72032	D	0.01	.	2.7698	0.05330	0.1831:0.5239:0.1783:0.1147	.	691	Q6ZNA1	ZN836_HUMAN	Q	691	ENSP00000325038:E691Q	ENSP00000325038:E691Q	E	-	1	0	ZNF836	57350677	0.001000	0.12720	0.001000	0.08648	0.147000	0.21601	0.790000	0.26900	-0.514000	0.06488	-0.314000	0.08810	GAG		0.383	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1	NM_001102657		27	34	0	0	0	1	0	27	34				
KMT2C	58508	broad.mit.edu	37	7	151945083	151945083	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:151945083C>T	ENST00000262189.6	-	14	2654	c.2436G>A	c.(2434-2436)atG>atA	p.M812I	KMT2C_ENST00000355193.2_Missense_Mutation_p.M812I	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	812					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										AAGTTGTTGGCATGATGTTTC	0.448																																						ENST00000355193.2																			0											c.(2434-2436)atG>atA		lysine (K)-specific methyltransferase 2C							425.0	377.0	393.0					7																	151945083		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151945083C>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2436G>A	7.37:g.151945083C>T	ENSP00000262189:p.Met812Ile					KMT2C_ENST00000262189.6_Missense_Mutation_p.M812I	p.M812I							14	2654	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.2436G>A	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.40|11.40	1.627090|1.627090	0.28978|0.28978	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000418673|ENST00000262189;ENST00000355193	.|D;D	.|0.82619	.|-1.63;-1.63	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	.|0.497489	.|0.16641	.|N	.|0.205640	T|T	0.70736|0.70736	0.3258|0.3258	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|B	.|0.11235	.|0.004	.|B	.|0.04013	.|0.001	T|T	0.62927|0.62927	-0.6750|-0.6750	5|10	.|0.15952	.|T	.|0.53	.|.	9.405|9.405	0.38455|0.38455	0.2476:0.61:0.1424:0.0|0.2476:0.61:0.1424:0.0	.|.	.|812	.|Q8NEZ4	.|MLL3_HUMAN	T|I	8|812	.|ENSP00000262189:M812I;ENSP00000347325:M812I	.|ENSP00000262189:M812I	A|M	-|-	1|3	0|0	MLL3|MLL3	151576016|151576016	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	1.894000|1.894000	0.39768|0.39768	2.658000|2.658000	0.90341|0.90341	0.650000|0.650000	0.86243|0.86243	GCC|ATG		0.448	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			13	280	0	0	0	1	0	13	280				
COL1A1	1277	broad.mit.edu	37	17	48264870	48264870	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:48264870C>T	ENST00000225964.5	-	46	3516	c.3398G>A	c.(3397-3399)gGa>gAa	p.G1133E		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1133	Triple-helical region.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	ACCAGAGGCTCCAGAGGGACC	0.602			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																															ENST00000225964.5				Dom	yes		17	17q21.31-q22	1277	T	"""collagen, type I, alpha 1"""	yes	Osteogenesis imperfecta	M	"""PDGFB, USP6"""		"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """	COL1A1/PDGFB(429)	0				NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(3397-3399)gGa>gAa		collagen, type I, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						60.0	55.0	57.0					17																	48264870		2203	4300	6503	SO:0001583	missense	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48264870C>T	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.3398G>A	17.37:g.48264870C>T	ENSP00000225964:p.Gly1133Glu						p.G1133E	NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN			46	3516	-			1133			Triple-helical region.		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Missense_Mutation	SNP	ENST00000225964.5	37	c.3398G>A	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.931833	0.73442	.	.	ENSG00000108821	ENST00000225964	D	0.99429	-5.89	4.67	4.67	0.58626	.	0.137932	0.47852	D	0.000210	D	0.99432	0.9799	M	0.75264	2.295	0.80722	D	1	D	0.76494	0.999	D	0.97110	1.0	D	0.98619	1.0666	10	0.87932	D	0	.	16.3652	0.83317	0.0:1.0:0.0:0.0	.	1133	P02452	CO1A1_HUMAN	E	1133	ENSP00000225964:G1133E	ENSP00000225964:G1133E	G	-	2	0	COL1A1	45619869	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.682000	0.68182	2.122000	0.65172	0.462000	0.41574	GGA		0.602	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			13	13	0	0	0	1	0	13	13				
PKHD1	5314	broad.mit.edu	37	6	51889466	51889466	+	Silent	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:51889466G>A	ENST00000371117.3	-	32	5417	c.5142C>T	c.(5140-5142)taC>taT	p.Y1714Y	PKHD1_ENST00000340994.4_Silent_p.Y1714Y	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1714	IPT/TIG 12; atypical.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTCTGACGTGGTACTCCCCGG	0.517																																						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.(5140-5142)taC>taT		polycystic kidney and hepatic disease 1 (autosomal recessive)							81.0	77.0	78.0					6																	51889466		2203	4300	6503	SO:0001819	synonymous_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.chr6:51889466G>A	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.5142C>T	6.37:g.51889466G>A						PKHD1_ENST00000340994.4_Silent_p.Y1714Y	p.Y1714Y	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			32	5417	-	Lung NSC(77;0.0605)		1714			IPT/TIG 12; atypical.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.5142C>T	CCDS4935.1																																																																																				0.517	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		24	27	0	0	0	1	0	24	27				
LCA5	167691	broad.mit.edu	37	6	80197043	80197043	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:80197043C>T	ENST00000392959.1	-	9	2383	c.1772G>A	c.(1771-1773)gGt>gAt	p.G591D	LCA5_ENST00000369846.4_Missense_Mutation_p.G591D	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	591					intraciliary transport (GO:0042073)|photoreceptor cell maintenance (GO:0045494)|protein transport (GO:0015031)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein complex binding (GO:0032403)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TAAATCTACACCATCTTTACT	0.353																																						ENST00000392959.1																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32						c.(1771-1773)gGt>gAt		Leber congenital amaurosis 5							80.0	83.0	82.0					6																	80197043		2203	4299	6502	SO:0001583	missense	167691				protein transport	cilium axoneme|microtubule basal body	protein binding	g.chr6:80197043C>T		CCDS4990.1	6q14	2014-01-28			ENSG00000135338	ENSG00000135338			31923	protein-coding gene	gene with protein product	"""lebercilin"""	611408	"""chromosome 6 open reading frame 152"""	C6orf152		10631161, 17546029	Standard	NM_181714		Approved		uc003pix.3	Q86VQ0	OTTHUMG00000015080	ENST00000392959.1:c.1772G>A	6.37:g.80197043C>T	ENSP00000376686:p.Gly591Asp					LCA5_ENST00000369846.4_Missense_Mutation_p.G591D	p.G591D	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0657)	9	2383	-		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)	591					E1P542|Q9BWX7	Missense_Mutation	SNP	ENST00000392959.1	37	c.1772G>A	CCDS4990.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.706019	0.00719	.	.	ENSG00000135338	ENST00000369846;ENST00000392959	T;T	0.30714	1.52;1.52	5.55	-0.696	0.11287	.	0.719170	0.14287	N	0.329163	T	0.03608	0.0103	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.44620	-0.9316	10	0.07644	T	0.81	-0.0632	6.2096	0.20621	0.0:0.2628:0.1494:0.5878	.	591	Q86VQ0	LCA5_HUMAN	D	591	ENSP00000358861:G591D;ENSP00000376686:G591D	ENSP00000358861:G591D	G	-	2	0	LCA5	80253762	0.003000	0.15002	0.001000	0.08648	0.050000	0.14768	-0.049000	0.11924	-0.218000	0.10018	-0.237000	0.12165	GGT		0.353	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259269.1	NM_181714		23	38	0	0	0	1	0	23	38				
ELL2	22936	broad.mit.edu	37	5	95226885	95226885	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr5:95226885C>A	ENST00000237853.4	-	10	2032	c.1683G>T	c.(1681-1683)agG>agT	p.R561S	ELL2_ENST00000431061.2_Missense_Mutation_p.R311S	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	561					regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|transcription elongation from RNA polymerase II promoter (GO:0006368)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.R561S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		CAGTCTCCATCCTGGCATGCA	0.388																																						ENST00000237853.4																			1	Substitution - Missense(1)	p.R561S(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24						c.(1681-1683)agG>agT		elongation factor, RNA polymerase II, 2							184.0	176.0	179.0					5																	95226885		2203	4300	6503	SO:0001583	missense	22936				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex		g.chr5:95226885C>A	U88629	CCDS4080.1	5q15	2010-11-29			ENSG00000118985	ENSG00000118985			17064	protein-coding gene	gene with protein product		601874				9108030	Standard	NM_012081		Approved		uc003klr.4	O00472	OTTHUMG00000122085	ENST00000237853.4:c.1683G>T	5.37:g.95226885C>A	ENSP00000237853:p.Arg561Ser					ELL2_ENST00000431061.2_Missense_Mutation_p.R311S	p.R561S	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN		all cancers(79;2.16e-15)	10	2032	-		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)	561					B4DNK7	Missense_Mutation	SNP	ENST00000237853.4	37	c.1683G>T	CCDS4080.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.24|19.24	3.790361|3.790361	0.70337|0.70337	.|.	.|.	ENSG00000118985|ENSG00000118985	ENST00000508757|ENST00000237853;ENST00000431061	.|T;T	.|0.23552	.|1.9;1.9	5.96|5.96	-0.101|-0.101	0.13618|0.13618	.|Occludin/RNA polymerase II elongation factor, ELL domain (1);	.|0.132802	.|0.64402	.|D	.|0.000002	T|T	0.34919|0.34919	0.0914|0.0914	M|M	0.74881|0.74881	2.28|2.28	0.49915|0.49915	D|D	0.999835|0.999835	.|P	.|0.50156	.|0.932	.|P	.|0.51945	.|0.685	T|T	0.13388|0.13388	-1.0511|-1.0511	5|10	.|0.87932	.|D	.|0	-5.9241|-5.9241	7.1241|7.1241	0.25461|0.25461	0.0:0.3842:0.1182:0.4976|0.0:0.3842:0.1182:0.4976	.|.	.|561	.|O00472	.|ELL2_HUMAN	V|S	79|561;311	.|ENSP00000237853:R561S;ENSP00000399704:R311S	.|ENSP00000237853:R561S	G|R	-|-	2|3	0|2	ELL2|ELL2	95252641|95252641	0.229000|0.229000	0.23729|0.23729	0.992000|0.992000	0.48379|0.48379	0.989000|0.989000	0.77384|0.77384	-0.412000|-0.412000	0.07132|0.07132	-0.099000|-0.099000	0.12263|0.12263	-0.142000|-0.142000	0.14014|0.14014	GGA|AGG		0.388	ELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242846.1	NM_012081		41	21	1	0	1.8453e-21	1	2.59908e-21	41	21				
SBF1	6305	broad.mit.edu	37	22	50902991	50902991	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr22:50902991C>A	ENST00000390679.3	-	14	1792	c.1608G>T	c.(1606-1608)agG>agT	p.R536S	SBF1_ENST00000348911.6_Missense_Mutation_p.R537S|SBF1_ENST00000380817.3_Missense_Mutation_p.R536S			O95248	MTMR5_HUMAN	SET binding factor 1	536					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)		GCACGGTGGTCCTCCTCTCGG	0.692																																						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.(1606-1608)agG>agT		SET binding factor 1							41.0	46.0	45.0					22																	50902991		2053	4177	6230	SO:0001583	missense	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50902991C>A	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.1608G>T	22.37:g.50902991C>A	ENSP00000375097:p.Arg536Ser					SBF1_ENST00000390679.3_Missense_Mutation_p.R536S|SBF1_ENST00000348911.6_Missense_Mutation_p.R537S	p.R536S	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	14	1791	-		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)	536					A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37	c.1608G>T		.	.	.	.	.	.	.	.	.	.	C	13.66	2.303785	0.40795	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000356279;ENST00000337034;ENST00000390679	D;D;D	0.86230	-2.09;-2.09;-2.09	4.21	4.21	0.49690	.	0.244071	0.40064	N	0.001188	T	0.71484	0.3345	N	0.03608	-0.345	0.44976	D	0.997991	B;P;P	0.36837	0.354;0.571;0.571	B;B;B	0.30855	0.101;0.121;0.121	T	0.76340	-0.2995	10	0.42905	T	0.14	.	16.3228	0.82958	0.0:1.0:0.0:0.0	.	536;537;536	O95248;G5E933;O95248-4	MTMR5_HUMAN;.;.	S	536;537;547;546;536	ENSP00000370196:R536S;ENSP00000252027:R537S;ENSP00000375097:R536S	ENSP00000336522:R546S	R	-	3	2	SBF1	49249857	1.000000	0.71417	0.993000	0.49108	0.072000	0.16883	1.075000	0.30716	2.161000	0.67846	0.313000	0.20887	AGG		0.692	SBF1-201	KNOWN	basic	protein_coding	protein_coding				26	47	1	0	5.77227e-19	1	7.87937e-19	26	47				
NFATC2	4773	broad.mit.edu	37	20	50133389	50133389	+	Silent	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr20:50133389G>A	ENST00000396009.3	-	3	1485	c.1266C>T	c.(1264-1266)gcC>gcT	p.A422A	NFATC2_ENST00000371564.3_Silent_p.A422A|NFATC2_ENST00000609943.1_Silent_p.A402A|NFATC2_ENST00000414705.1_Silent_p.A402A|NFATC2_ENST00000610033.1_Silent_p.A203A|NFATC2_ENST00000609507.1_Silent_p.A203A	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	422	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|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)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TCTCATAGTGGGCCCGGTGAT	0.587																																						ENST00000371564.3																		EWSR1/NFATC2(9)	0				breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53						c.(1264-1266)gcC>gcT		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2							83.0	74.0	77.0					20																	50133389		2203	4300	6503	SO:0001819	synonymous_variant	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50133389G>A	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.1266C>T	20.37:g.50133389G>A						NFATC2_ENST00000414705.1_Silent_p.A402A|NFATC2_ENST00000396009.3_Silent_p.A422A	p.A422A	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN			3	1485	-	Hepatocellular(150;0.248)		422			RHD.		B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Silent	SNP	ENST00000396009.3	37	c.1266C>T	CCDS13437.1																																																																																				0.587	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		12	29	0	0	0	1	0	12	29				
GABRG3	2567	broad.mit.edu	37	15	27772733	27772733	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr15:27772733T>A	ENST00000333743.6	+	8	1274	c.1020T>A	c.(1018-1020)taT>taA	p.Y340*	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	340					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|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)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCAACTACTATTCCAGCTGTA	0.537																																					NSCLC(114;800 1656 7410 37729 45293)	ENST00000333743.6																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42						c.(1018-1020)taT>taA		gamma-aminobutyric acid (GABA) A receptor, gamma 3							81.0	73.0	76.0					15																	27772733		2094	4221	6315	SO:0001587	stop_gained	2567				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27772733T>A		CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4088	protein-coding gene	gene with protein product	"""GABA(G) receptor, gamma 3"""	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.1020T>A	15.37:g.27772733T>A	ENSP00000331912:p.Tyr340*					RP11-100M12.3_ENST00000556642.1_RNA	p.Y340*	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	8	1274	+		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)	340					G3V594|Q9HD46|Q9NYT2	Nonsense_Mutation	SNP	ENST00000333743.6	37	c.1020T>A	CCDS45195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	33|33	5.272654|5.272654	0.95429|0.95429	.|.	.|.	ENSG00000182256|ENSG00000182256	ENST00000451330|ENST00000333743	.|.	.|.	.|.	5.48|5.48	-4.49|-4.49	0.03504|0.03504	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.67552|.	0.2905|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.68059|.	-0.5509|.	4|.	.|0.46703	.|T	.|0.11	.|.	15.4298|15.4298	0.75084|0.75084	0.0:0.606:0.0:0.394|0.0:0.606:0.0:0.394	.|.	.|.	.|.	.|.	N|X	103|340	.|.	.|ENSP00000331912:Y340X	I|Y	+|+	2|3	0|2	GABRG3|GABRG3	25446328|25446328	0.989000|0.989000	0.36119|0.36119	0.137000|0.137000	0.22149|0.22149	0.645000|0.645000	0.38454|0.38454	0.273000|0.273000	0.18662|0.18662	-1.273000|-1.273000	0.02424|0.02424	-0.468000|-0.468000	0.05107|0.05107	ATT|TAT		0.537	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2			8	2	0	0	0	1	0	8	2				
DTNB	1838	broad.mit.edu	37	2	25610229	25610229	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:25610229C>T	ENST00000406818.3	-	18	2003	c.1754G>A	c.(1753-1755)cGc>cAc	p.R585H	DTNB_ENST00000496972.2_Missense_Mutation_p.R521H|DTNB_ENST00000405222.1_Intron|DTNB_ENST00000404103.3_Intron|DTNB_ENST00000545439.1_Missense_Mutation_p.R374H|DTNB_ENST00000407186.1_Missense_Mutation_p.R548H|DTNB_ENST00000407038.3_Intron|DTNB_ENST00000288642.8_Intron|DTNB_ENST00000407661.3_Missense_Mutation_p.R585H	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	585						cytoplasm (GO:0005737)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGTCATTGCGGAGGTTTCT	0.587																																						ENST00000406818.3																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11						c.(1753-1755)cGc>cAc		dystrobrevin, beta							73.0	77.0	75.0					2																	25610229		2190	4282	6472	SO:0001583	missense	1838					cytoplasm	calcium ion binding|zinc ion binding	g.chr2:25610229C>T	AF022728	CCDS46233.1, CCDS46234.1, CCDS46235.1, CCDS46236.1, CCDS46237.1, CCDS58702.1, CCDS74496.1	2p23.2	2008-05-15			ENSG00000138101	ENSG00000138101			3058	protein-coding gene	gene with protein product		602415				9419360	Standard	NM_021907		Approved		uc002rgh.4	O60941	OTTHUMG00000152129	ENST00000406818.3:c.1754G>A	2.37:g.25610229C>T	ENSP00000384084:p.Arg585His					DTNB_ENST00000545439.1_Missense_Mutation_p.R374H|DTNB_ENST00000407186.1_Missense_Mutation_p.R548H|DTNB_ENST00000496972.2_Missense_Mutation_p.R521H|DTNB_ENST00000404103.3_Intron|DTNB_ENST00000288642.8_Intron|DTNB_ENST00000407661.3_Missense_Mutation_p.R585H|DTNB_ENST00000407038.3_Intron|DTNB_ENST00000405222.1_Intron	p.R585H	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN			18	2003	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		585					B7Z733|F5GZG4|G5E9F6|O43782|O60881|O75538|Q86VR4|Q96AW0|Q9UE14|Q9UE15|Q9UE16	Missense_Mutation	SNP	ENST00000406818.3	37	c.1754G>A	CCDS46237.1	.	.	.	.	.	.	.	.	.	.	C	19.51	3.840335	0.71488	.	.	ENSG00000138101	ENST00000496972;ENST00000406818;ENST00000407661;ENST00000407186;ENST00000545439	T;T;T;T;T	0.55588	1.84;1.84;1.79;1.88;0.51	4.82	2.03	0.26663	.	0.108345	0.64402	N	0.000007	T	0.67869	0.2939	M	0.78637	2.42	0.43793	D	0.996339	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.977;1.0;1.0;1.0	D;D;D;D;P;D;D;D	0.77557	0.97;0.99;0.978;0.978;0.51;0.99;0.953;0.97	T	0.65903	-0.6055	10	0.72032	D	0.01	-5.67	8.0468	0.30553	0.0:0.7262:0.0:0.2738	.	374;521;578;521;548;585;585;585	B7Z202;F5GZG4;B7Z6A9;B7Z733;E9PEY4;G5E9F6;O60941;Q86VR4	.;.;.;.;.;.;DTNB_HUMAN;.	H	521;585;585;548;374	ENSP00000444463:R521H;ENSP00000384084:R585H;ENSP00000385193:R585H;ENSP00000385784:R548H;ENSP00000444961:R374H	ENSP00000384084:R585H	R	-	2	0	DTNB	25463733	1.000000	0.71417	0.998000	0.56505	0.936000	0.57629	2.563000	0.45922	0.117000	0.18138	-0.291000	0.09656	CGC		0.587	DTNB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325361.1	NM_033147		11	20	0	0	0	1	0	11	20				
FHL5	9457	broad.mit.edu	37	6	97051502	97051502	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:97051502C>G	ENST00000326771.2	+	3	393	c.13C>G	c.(13-15)Cac>Gac	p.H5D	FHL5_ENST00000541107.1_Missense_Mutation_p.H5D	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	5					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		GACAACTGCTCACTTTTACTG	0.313																																						ENST00000326771.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27						c.(13-15)Cac>Gac		four and a half LIM domains 5							151.0	131.0	138.0					6																	97051502		2203	4300	6503	SO:0001583	missense	9457					nucleus	zinc ion binding	g.chr6:97051502C>G	AF278541	CCDS5035.1	6q16.1-q16.3	2008-02-05			ENSG00000112214	ENSG00000112214			17371	protein-coding gene	gene with protein product		605126					Standard	NM_020482		Approved	FLJ33049, ACT, dJ393D12.2	uc003pot.2	Q5TD97	OTTHUMG00000015239	ENST00000326771.2:c.13C>G	6.37:g.97051502C>G	ENSP00000326022:p.His5Asp					FHL5_ENST00000541107.1_Missense_Mutation_p.H5D	p.H5D	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0948)	3	393	+		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)	5					B2RBD1|E1P526|Q5TD98|Q8WW21|Q9NQU2	Missense_Mutation	SNP	ENST00000326771.2	37	c.13C>G	CCDS5035.1	.	.	.	.	.	.	.	.	.	.	C	8.167	0.790910	0.16258	.	.	ENSG00000112214	ENST00000541107;ENST00000326771;ENST00000450218	T;T;T	0.60040	0.25;0.25;0.22	5.65	3.78	0.43462	Zinc finger, LIM-type (1);	0.353403	0.20743	N	0.086514	T	0.38612	0.1047	M	0.71296	2.17	0.09310	N	1	B	0.25772	0.134	B	0.28465	0.09	T	0.36866	-0.9730	10	0.45353	T	0.12	.	10.2361	0.43284	0.3773:0.4991:0.1236:0.0	.	5	Q5TD97	FHL5_HUMAN	D	5	ENSP00000442357:H5D;ENSP00000326022:H5D;ENSP00000396390:H5D	ENSP00000326022:H5D	H	+	1	0	FHL5	97158223	0.946000	0.32159	0.125000	0.21846	0.224000	0.24922	4.433000	0.59929	1.355000	0.45865	0.591000	0.81541	CAC		0.313	FHL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041559.1	NM_020482		17	18	0	0	0	1	0	17	18				
MYH8	4626	broad.mit.edu	37	17	10304678	10304678	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:10304678G>C	ENST00000403437.2	-	24	3116	c.3022C>G	c.(3022-3024)Cag>Gag	p.Q1008E	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1008					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCCAGGGTCTGCTGGTGGGTC	0.468									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(3022-3024)Cag>Gag		myosin, heavy chain 8, skeletal muscle, perinatal							151.0	150.0	150.0					17																	10304678		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10304678G>C		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.3022C>G	17.37:g.10304678G>C	ENSP00000384330:p.Gln1008Glu					CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.Q1008E	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			24	3116	-			1008					Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.3022C>G	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183048	0.78677	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.89270	-2.49	5.65	5.65	0.86999	.	0.000000	0.39759	U	0.001269	D	0.89410	0.6707	M	0.69248	2.105	0.58432	D	0.999991	B	0.23316	0.083	B	0.25291	0.059	D	0.85990	0.1488	10	0.87932	D	0	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	1008	P13535	MYH8_HUMAN	E	1008	ENSP00000384330:Q1008E	ENSP00000252173:Q1008E	Q	-	1	0	MYH8	10245403	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.298000	0.96132	2.941000	0.99782	0.655000	0.94253	CAG		0.468	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		62	59	0	0	0	1	0	62	59				
SLC45A2	51151	broad.mit.edu	37	5	33982365	33982365	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr5:33982365G>T	ENST00000296589.4	-	2	684	c.538C>A	c.(538-540)Ctc>Atc	p.L180I	SLC45A2_ENST00000382102.3_Missense_Mutation_p.L180I|SLC45A2_ENST00000509381.1_Missense_Mutation_p.L180I|SLC45A2_ENST00000342059.3_Intron|SLC45A2_ENST00000345083.5_Missense_Mutation_p.L180I	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	180					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						TGGTAGTGGAGGCCCTTCTCC	0.493																																					Ovarian(31;380 859 8490 22203 49048)	ENST00000382102.3																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(538-540)Ctc>Atc		solute carrier family 45, member 2							108.0	105.0	106.0					5																	33982365		2203	4300	6503	SO:0001583	missense	51151				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		g.chr5:33982365G>T	AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"""Solute carriers"""	16472	protein-coding gene	gene with protein product		606202	"""membrane associated transporter"""	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.538C>A	5.37:g.33982365G>T	ENSP00000296589:p.Leu180Ile					SLC45A2_ENST00000345083.5_Missense_Mutation_p.L180I|SLC45A2_ENST00000342059.3_Intron|SLC45A2_ENST00000296589.4_Missense_Mutation_p.L180I|SLC45A2_ENST00000509381.1_Missense_Mutation_p.L180I	p.L180I	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN			2	595	-			180					Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000296589.4	37	c.538C>A	CCDS3901.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.540065	0.85917	.	.	ENSG00000164175	ENST00000296589;ENST00000382102;ENST00000509381;ENST00000345083	D;D;D;D	0.94417	-2.68;-2.68;-3.42;-3.42	5.2	5.2	0.72013	Major facilitator superfamily domain, general substrate transporter (1);	0.054185	0.85682	D	0.000000	D	0.97711	0.9249	M	0.91510	3.215	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.99;0.994	D	0.96893	0.9654	10	0.22706	T	0.39	-12.8649	19.1001	0.93270	0.0:0.0:1.0:0.0	.	180;180;180	D6RGY6;Q9UMX9-4;Q9UMX9	.;.;S45A2_HUMAN	I	180	ENSP00000296589:L180I;ENSP00000371534:L180I;ENSP00000421100:L180I;ENSP00000340444:L180I	ENSP00000296589:L180I	L	-	1	0	SLC45A2	34018122	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.621000	0.67743	2.601000	0.87937	0.551000	0.68910	CTC		0.493	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	NM_016180		29	23	1	0	4.06085e-26	1	5.79654e-26	29	23				
TMEM200A	114801	broad.mit.edu	37	6	130762719	130762719	+	Silent	SNP	C	C	G	rs73771841	byFrequency	TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:130762719C>G	ENST00000296978.3	+	3	2023	c.1152C>G	c.(1150-1152)tcC>tcG	p.S384S	TMEM200A_ENST00000392429.1_Silent_p.S384S|TMEM200A_ENST00000545622.1_Silent_p.S384S	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	384						integral component of membrane (GO:0016021)				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		AGTTTGGGTCCAATACATCCT	0.527																																						ENST00000392429.1																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(1150-1152)tcC>tcG		transmembrane protein 200A							81.0	79.0	79.0					6																	130762719		2203	4300	6503	SO:0001819	synonymous_variant	114801					integral to membrane		g.chr6:130762719C>G	AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"""KIAA1913"""	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.1152C>G	6.37:g.130762719C>G						TMEM200A_ENST00000545622.1_Silent_p.S384S|TMEM200A_ENST00000296978.3_Silent_p.S384S	p.S384S	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN		GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)	2	3530	+			384					Q96PX5	Silent	SNP	ENST00000296978.3	37	c.1152C>G	CCDS5140.1																																																																																				0.527	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913		19	29	0	0	0	1	0	19	29				
IFI30	10437	broad.mit.edu	37	19	18286135	18286135	+	Silent	SNP	T	T	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:18286135T>C	ENST00000407280.3	+	3	505	c.330T>C	c.(328-330)agT>agC	p.S110S	PIK3R2_ENST00000593731.1_3'UTR	NM_006332.3	NP_006323.2	P13284	GILT_HUMAN	interferon, gamma-inducible protein 30	110					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of fibroblast proliferation (GO:0048147)|protein stabilization (GO:0050821)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	oxidoreductase activity, acting on a sulfur group of donors (GO:0016667)			endometrium(1)|kidney(2)|large_intestine(1)|stomach(1)	5						AAAATGTCAGTGGCAGGTGGG	0.622																																						ENST00000407280.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|stomach(1)	5						c.(328-330)agT>agC		interferon, gamma-inducible protein 30							23.0	28.0	26.0					19																	18286135		2049	4181	6230	SO:0001819	synonymous_variant	10437				antigen processing and presentation of exogenous peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway	cell junction|extracellular region|lysosome	oxidoreductase activity, acting on a sulfur group of donors	g.chr19:18286135T>C	J03909	CCDS46015.1	19p13.1	2008-07-16				ENSG00000216490			5398	protein-coding gene	gene with protein product	"""gamma-interferon-inducible lysosomal thiol reductase"", ""interferon gamma-inducible protein 30 preproprotein"""	604664				3136170, 10639150	Standard	NM_006332		Approved	IFI-30, GILT, IP30, MGC32056	uc002nic.1	P13284		ENST00000407280.3:c.330T>C	19.37:g.18286135T>C						PIK3R2_ENST00000593731.1_3'UTR	p.S110S	NM_006332.3	NP_006323.2	P13284	GILT_HUMAN			3	398	+			110					Q76MF9|Q8NEI4|Q8WU77|Q9UL08	Silent	SNP	ENST00000407280.3	37	c.330T>C	CCDS46015.1																																																																																				0.622	IFI30-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466396.3	NM_006332		4	6	0	0	0	1	0	4	6				
CFHR1	3078	broad.mit.edu	37	1	196796048	196796048	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:196796048A>G	ENST00000320493.5	+	3	431	c.343A>G	c.(343-345)Aac>Gac	p.N115D	CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000367424.4_Missense_Mutation_p.N115D	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	115	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						AATTATTTGCAACACAGGATA	0.428																																						ENST00000320493.5																			0				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						c.(343-345)Aac>Gac		complement factor H-related 1							122.0	131.0	128.0					1																	196796048		1880	4131	6011	SO:0001583	missense	3078				complement activation	extracellular space		g.chr1:196796048A>G	M65292	CCDS1386.1	1q32	2014-09-17	2004-08-09	2006-02-28	ENSG00000244414	ENSG00000244414		"""Complement system"""	4888	protein-coding gene	gene with protein product		134371	"""H factor (complement)-like 1"", ""complement factor H-related 1 pseudogene"", ""H factor (complement)-like 2"""	HFL1, CFHL1, CFHR1P, HFL2, CFHL1P		1711047, 1826708	Standard	NM_002113		Approved	H36-1, FHR1, CFHL, H36-2		Q03591	OTTHUMG00000036276	ENST00000320493.5:c.343A>G	1.37:g.196796048A>G	ENSP00000314299:p.Asn115Asp					CFHR1_ENST00000367424.3_Missense_Mutation_p.N115D|CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000498248.1_3'UTR	p.N115D	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN			3	431	+			115			Sushi 2.		A8K465|Q3B774|Q9UJ17	Missense_Mutation	SNP	ENST00000320493.5	37	c.343A>G	CCDS1386.1	.	.	.	.	.	.	.	.	.	.	.	4.295	0.053962	0.08291	.	.	ENSG00000244414	ENST00000367424;ENST00000320493	T;T	0.62232	0.04;0.04	3.37	-6.55	0.01854	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.35970	0.0950	N	0.20685	0.6	0.09310	N	0.999999	P	0.48503	0.911	P	0.45474	0.482	T	0.38672	-0.9650	9	0.13108	T	0.6	.	0.3334	0.00322	0.3825:0.1415:0.1924:0.2836	.	115	Q03591	FHR1_HUMAN	D	115	ENSP00000356394:N115D;ENSP00000314299:N115D	ENSP00000314299:N115D	N	+	1	0	CFHR1	195062671	0.000000	0.05858	0.000000	0.03702	0.210000	0.24377	-4.262000	0.00264	-1.035000	0.03291	0.155000	0.16302	AAC		0.428	CFHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088251.2	NM_002113		24	48	0	0	0	1	0	24	48				
GIN1	54826	broad.mit.edu	37	5	102442560	102442560	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr5:102442560C>A	ENST00000399004.2	-	3	287	c.193G>T	c.(193-195)Gtt>Ttt	p.V65F	GIN1_ENST00000511400.1_5'Flank|GIN1_ENST00000508629.1_Missense_Mutation_p.V65F	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	65					DNA integration (GO:0015074)		nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		TCTTCTGAAACAATTACCAAA	0.338																																						ENST00000399004.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(193-195)Gtt>Ttt		gypsy retrotransposon integrase 1							72.0	65.0	67.0					5																	102442560		1824	4083	5907	SO:0001583	missense	54826				DNA integration		DNA binding	g.chr5:102442560C>A	BC015325	CCDS43349.1	5q21.1	2008-02-11	2007-06-13	2007-06-13		ENSG00000145723			25959	protein-coding gene	gene with protein product	"""gypsy integrase 1"", ""Ty3/Gypsy integrase 1"""		"""zinc finger, H2C2 domain containing"""	ZH2C2		11470852	Standard	NM_017676		Approved	FLJ20125, GIN-1, TGIN1	uc003koa.1	Q9NXP7		ENST00000399004.2:c.193G>T	5.37:g.102442560C>A	ENSP00000381970:p.Val65Phe					GIN1_ENST00000508629.1_Missense_Mutation_p.V65F	p.V65F	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)	3	287	-		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)	65					B2RXF7|B4DIV4|Q6AI03|Q96BR2	Missense_Mutation	SNP	ENST00000399004.2	37	c.193G>T	CCDS43349.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.650079	0.47362	.	.	ENSG00000145723	ENST00000399004;ENST00000508629	T;T	0.36878	1.23;1.23	6.06	3.99	0.46301	.	0.113535	0.38605	N	0.001632	T	0.19967	0.0480	N	0.08118	0	0.40068	D	0.975975	B;P	0.41366	0.318;0.747	B;B	0.40782	0.22;0.34	T	0.07501	-1.0769	10	0.56958	D	0.05	-12.8636	8.7493	0.34605	0.0:0.7179:0.1293:0.1528	.	65;65	Q9NXP7-3;Q9NXP7	.;GIN1_HUMAN	F	65	ENSP00000381970:V65F;ENSP00000427162:V65F	ENSP00000381970:V65F	V	-	1	0	GIN1	102470459	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.751000	0.26348	1.575000	0.49775	0.650000	0.86243	GTT		0.338	GIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370478.3	NM_017676		3	3	1	0	6.4e-05	1	7.05218e-05	3	3				
LCE2C	353140	broad.mit.edu	37	1	152648469	152648469	+	Splice_Site	SNP	A	A	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:152648469A>T	ENST00000368783.1	+	2	34		c.e2-1		LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C						keratinization (GO:0031424)					endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATTATCTTTCAGGTTGACTAA	0.403																																						ENST00000368783.1																			0				endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13						c.e2-1		late cornified envelope 2C							69.0	79.0	75.0					1																	152648469		2203	4300	6503	SO:0001630	splice_region_variant	353140				keratinization			g.chr1:152648469A>T		CCDS1019.1	1q21.3	2008-02-05			ENSG00000187180	ENSG00000187180		"""Late cornified envelopes"""	29460	protein-coding gene	gene with protein product		612611				11698679	Standard	NM_178429		Approved	LEP11	uc001fah.4	Q5TA81	OTTHUMG00000012389	ENST00000368783.1:c.-21-1A>T	1.37:g.152648469A>T						LCE2B_ENST00000417924.2_Intron		NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	34	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)								Splice_Site	SNP	ENST00000368783.1	37		CCDS1019.1																																																																																				0.403	LCE2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034509.1	NM_178429	Intron	20	40	0	0	0	1	0	20	40				
TUBG1	7283	broad.mit.edu	37	17	40767015	40767015	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:40767015G>A	ENST00000251413.3	+	11	1374	c.1312G>A	c.(1312-1314)Gcc>Acc	p.A438T		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	438					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic spindle organization (GO:0000212)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	apical part of cell (GO:0045177)|cell leading edge (GO:0031252)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)|polar microtubule (GO:0005827)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Vinblastine(DB00570)	GTACCATGCGGCCACACGGCC	0.582																																					Colon(20;114 698 11420 22864)	ENST00000251413.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						c.(1312-1314)Gcc>Acc		tubulin, gamma 1							93.0	92.0	92.0					17																	40767015		2203	4300	6503	SO:0001583	missense	7283				G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton	g.chr17:40767015G>A	BC000619	CCDS11433.1	17q21.31	2010-03-15	2000-01-20		ENSG00000131462	ENSG00000131462		"""Tubulins"""	12417	protein-coding gene	gene with protein product		191135	"""tubulin, gamma polypeptide"""	TUBG		1904010	Standard	NM_001070		Approved	TUBGCP1	uc002ian.3	P23258		ENST00000251413.3:c.1312G>A	17.37:g.40767015G>A	ENSP00000251413:p.Ala438Thr						p.A438T	NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.129)	11	1374	+		Breast(137;0.00116)	438					Q53X79|Q9BW59	Missense_Mutation	SNP	ENST00000251413.3	37	c.1312G>A	CCDS11433.1	.	.	.	.	.	.	.	.	.	.	G	32	5.124246	0.94429	.	.	ENSG00000131462	ENST00000251413	D	0.84660	-1.88	5.02	5.02	0.67125	Tubulin, C-terminal (1);Tubulin/FtsZ, C-terminal (1);	0.000000	0.64402	D	0.000001	D	0.93893	0.8046	M	0.90198	3.095	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95031	0.8169	10	0.72032	D	0.01	-17.1353	18.361	0.90374	0.0:0.0:1.0:0.0	.	438	P23258	TBG1_HUMAN	T	438	ENSP00000251413:A438T	ENSP00000251413:A438T	A	+	1	0	TUBG1	38020541	1.000000	0.71417	0.964000	0.40570	0.965000	0.64279	9.837000	0.99465	2.339000	0.79563	0.563000	0.77884	GCC		0.582	TUBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450548.1	NM_001070		22	56	0	0	0	1	0	22	56				
SLC26A5	375611	broad.mit.edu	37	7	103048393	103048393	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:103048393C>A	ENST00000306312.3	-	8	1054	c.793G>T	c.(793-795)Ggg>Tgg	p.G265W	SLC26A5_ENST00000393735.2_Missense_Mutation_p.G265W|SLC26A5_ENST00000393727.1_Missense_Mutation_p.G265W|SLC26A5_ENST00000356767.4_Missense_Mutation_p.G265W|SLC26A5_ENST00000339444.6_Missense_Mutation_p.G265W|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000393723.1_Missense_Mutation_p.G265W|SLC26A5_ENST00000393730.1_Missense_Mutation_p.G265W|SLC26A5_ENST00000393729.1_Missense_Mutation_p.G228W|SLC26A5_ENST00000432958.2_Missense_Mutation_p.G265W	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	265					regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						ACCATCAGCCCGACGCCTAGG	0.443																																						ENST00000306312.3																			0				endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						c.(793-795)Ggg>Tgg		solute carrier family 26 (anion exchanger), member 5							109.0	97.0	101.0					7																	103048393		2203	4300	6503	SO:0001583	missense	375611				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	g.chr7:103048393C>A	AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"""Solute carriers"""	9359	protein-coding gene	gene with protein product	"""deafness, neurosensory, autosomal recessive, 61"""	604943	"""prestin (motor protein)"""	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.793G>T	7.37:g.103048393C>A	ENSP00000304783:p.Gly265Trp					SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000393735.2_Missense_Mutation_p.G265W|SLC26A5_ENST00000339444.6_Missense_Mutation_p.G265W|SLC26A5_ENST00000356767.4_Missense_Mutation_p.G265W|SLC26A5_ENST00000393729.1_Missense_Mutation_p.G228W|SLC26A5_ENST00000393727.1_Missense_Mutation_p.G265W|SLC26A5_ENST00000393723.1_Missense_Mutation_p.G265W|SLC26A5_ENST00000393730.1_Missense_Mutation_p.G265W|SLC26A5_ENST00000432958.2_Missense_Mutation_p.G265W	p.G265W	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN			8	1054	-			265					Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Missense_Mutation	SNP	ENST00000306312.3	37	c.793G>T	CCDS5733.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983902	0.74474	.	.	ENSG00000170615	ENST00000339444;ENST00000356767;ENST00000393735;ENST00000306312;ENST00000393730;ENST00000432958;ENST00000393729;ENST00000393727;ENST00000393723	D;D;D;D;D;D;D;D;D	0.94723	-3.5;-3.5;-3.5;-3.5;-3.5;-3.5;-3.5;-3.5;-3.5	5.36	5.36	0.76844	Sulphate transporter (1);	0.000000	0.85682	D	0.000000	D	0.97945	0.9324	M	0.91510	3.215	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	1.0;1.0;0.999;1.0;1.0	D	0.98607	1.0661	10	0.87932	D	0	.	19.4568	0.94895	0.0:1.0:0.0:0.0	.	265;265;265;265;265	P58743;Q496J2;P58743-4;P58743-3;P58743-2	S26A5_HUMAN;.;.;.;.	W	265;265;265;265;265;265;228;265;265	ENSP00000342396:G265W;ENSP00000349210:G265W;ENSP00000377336:G265W;ENSP00000304783:G265W;ENSP00000377331:G265W;ENSP00000389733:G265W;ENSP00000377330:G228W;ENSP00000377328:G265W;ENSP00000377324:G265W	ENSP00000304783:G265W	G	-	1	0	SLC26A5	102835629	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.259000	0.51515	2.673000	0.90976	0.650000	0.86243	GGG		0.443	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1	NM_198999		18	41	1	0	6.94344e-10	1	8.55445e-10	18	41				
CAPRIN2	65981	broad.mit.edu	37	12	30881705	30881705	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:30881705C>G	ENST00000395805.2	-	8	2206	c.1659G>C	c.(1657-1659)gaG>gaC	p.E553D	CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.E553D|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.E220D|CAPRIN2_ENST00000251071.5_Missense_Mutation_p.E553D|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.E553D	NM_001206856.1	NP_001193785.1			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GTTTTTGACTCTCAACATTGT	0.468																																						ENST00000251071.5																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48						c.(1657-1659)gaG>gaC		caprin family member 2							217.0	206.0	210.0					12																	30881705		2203	4300	6503	SO:0001583	missense	65981				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	g.chr12:30881705C>G	AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.1659G>C	12.37:g.30881705C>G	ENSP00000379150:p.Glu553Asp					CAPRIN2_ENST00000395805.2_Missense_Mutation_p.E553D|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.E553D|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.E220D|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.E553D|CAPRIN2_ENST00000538387.1_5'UTR	p.E553D	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN			8	2409	-	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		553						Missense_Mutation	SNP	ENST00000395805.2	37	c.1659G>C	CCDS55816.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.810313	0.50421	.	.	ENSG00000110888	ENST00000433722;ENST00000298892;ENST00000395805;ENST00000251071;ENST00000308433;ENST00000417045;ENST00000438006;ENST00000537108	T;T;T;T;T;T;T	0.75477	2.38;-0.66;2.81;-0.65;-0.94;2.79;2.42	5.12	4.23	0.50019	.	0.982469	0.08331	N	0.962346	T	0.75184	0.3815	N	0.19112	0.55	0.09310	N	1	D;D;D;D;D;P;D	0.76494	0.998;0.998;0.999;0.999;0.958;0.949;0.976	D;P;P;D;P;P;P	0.66602	0.921;0.875;0.883;0.945;0.531;0.496;0.629	T	0.61758	-0.6997	10	0.49607	T	0.09	-3.8769	8.1759	0.31281	0.0:0.7556:0.1581:0.0863	.	553;279;553;553;553;553;553	Q6IMN6-6;E9PAU5;Q149P6;Q6IMN6-3;Q6IMN6;Q6IMN6-2;E4NKG2	.;.;.;.;CAPR2_HUMAN;.;.	D	299;553;553;553;220;553;279;472	ENSP00000415407:E299D;ENSP00000298892:E553D;ENSP00000379150:E553D;ENSP00000251071:E553D;ENSP00000309785:E220D;ENSP00000391479:E553D;ENSP00000438010:E472D	ENSP00000251071:E553D	E	-	3	2	CAPRIN2	30772972	0.032000	0.19561	0.020000	0.16555	0.681000	0.39784	0.754000	0.26390	1.155000	0.42497	0.561000	0.74099	GAG		0.468	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	NM_023925		6	110	0	0	0	1	0	6	110				
EPC2	26122	broad.mit.edu	37	2	149528848	149528848	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:149528848A>T	ENST00000258484.6	+	10	1646	c.1612A>T	c.(1612-1614)Agt>Tgt	p.S538C		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	538					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)		TTTACAGGACAGTGATAGTGA	0.378																																						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.(1612-1614)Agt>Tgt		enhancer of polycomb homolog 2 (Drosophila)							125.0	120.0	122.0					2																	149528848		1887	4102	5989	SO:0001583	missense	26122				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:149528848A>T	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.1612A>T	2.37:g.149528848A>T	ENSP00000258484:p.Ser538Cys						p.S538C	NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0516)	10	1646	+			538					B3KWT7|D3DP89|Q7L9J1|Q96RR7|Q9NUT8|Q9NVR1|Q9UFM9	Missense_Mutation	SNP	ENST00000258484.6	37	c.1612A>T	CCDS46422.1	.	.	.	.	.	.	.	.	.	.	A	16.62	3.174567	0.57692	.	.	ENSG00000135999	ENST00000258484	T	0.20881	2.04	5.36	5.36	0.76844	.	0.244923	0.47852	D	0.000201	T	0.26340	0.0643	L	0.38175	1.15	0.80722	D	1	D	0.58620	0.983	P	0.49561	0.615	T	0.01440	-1.1354	10	0.59425	D	0.04	-0.1074	15.6403	0.76993	1.0:0.0:0.0:0.0	.	538	Q52LR7	EPC2_HUMAN	C	538	ENSP00000258484:S538C	ENSP00000258484:S538C	S	+	1	0	EPC2	149245318	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.428000	0.66489	2.140000	0.66376	0.460000	0.39030	AGT		0.378	EPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332278.1	NM_015630		10	87	0	0	0	1	0	10	87				
HNF1B	6928	broad.mit.edu	37	17	36091623	36091623	+	Missense_Mutation	SNP	G	G	T	rs150268130		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:36091623G>T	ENST00000225893.4	-	4	1369	c.1008C>A	c.(1006-1008)caC>caA	p.H336Q	HNF1B_ENST00000560016.1_Missense_Mutation_p.H336Q|HNF1B_ENST00000561193.1_Missense_Mutation_p.H310Q|HNF1B_ENST00000427275.2_Missense_Mutation_p.H310Q	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	336					anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			TGGGCTGGTGGTGGGGGGAGC	0.602																																					Colon(71;102 1179 9001 27917 43397)	ENST00000225893.4																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28						c.(1006-1008)caC>caA		HNF1 homeobox B							83.0	62.0	69.0					17																	36091623		2203	4300	6503	SO:0001583	missense	6928				endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:36091623G>T	BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"""Homeoboxes / HNF class"""	11630	protein-coding gene	gene with protein product		189907	"""transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"""	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.1008C>A	17.37:g.36091623G>T	ENSP00000225893:p.His336Gln					HNF1B_ENST00000561193.1_Missense_Mutation_p.H310Q|HNF1B_ENST00000560016.1_Missense_Mutation_p.H336Q|HNF1B_ENST00000427275.2_Missense_Mutation_p.H310Q	p.H336Q	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	STAD - Stomach adenocarcinoma(1;0.0142)		4	1369	-		Breast(25;0.00765)|Ovarian(249;0.15)	336					B4DKM3|E0YMJ9	Missense_Mutation	SNP	ENST00000225893.4	37	c.1008C>A	CCDS11324.1	.	.	.	.	.	.	.	.	.	.	G	9.768	1.171944	0.21704	.	.	ENSG00000108753	ENST00000225893;ENST00000427275;ENST00000544593;ENST00000539087	D;D	0.97620	-4.46;-4.46	5.21	5.21	0.72293	Hepatocyte nuclear factor 1, beta isoform, C-terminal (1);	0.179309	0.64402	D	0.000010	D	0.95010	0.8385	N	0.19112	0.55	0.53688	D	0.999975	B;D;B	0.53885	0.005;0.963;0.023	B;P;B	0.52424	0.021;0.698;0.012	D	0.93009	0.6430	10	0.13470	T	0.59	-27.737	17.4801	0.87670	0.0:0.0:1.0:0.0	.	310;336;336	E0YMJ6;P35680-3;P35680	.;.;HNF1B_HUMAN	Q	336;310;336;224	ENSP00000225893:H336Q;ENSP00000412212:H310Q	ENSP00000225893:H336Q	H	-	3	2	HNF1B	33165736	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.407000	0.52644	2.717000	0.92951	0.655000	0.94253	CAC		0.602	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256807.3	NM_000458		7	14	1	0	8.12818e-05	1	8.93595e-05	7	14				
LRIF1	55791	broad.mit.edu	37	1	111492686	111492686	+	Silent	SNP	T	T	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:111492686T>C	ENST00000369763.4	-	3	2046	c.1656A>G	c.(1654-1656)aaA>aaG	p.K552K	RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000485275.2_Silent_p.K16K|LRIF1_ENST00000494675.1_Silent_p.K16K	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	552					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						CTTGAGAATCTTTCTTGTCAT	0.358																																						ENST00000369763.4																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						c.(1654-1656)aaA>aaG		ligand dependent nuclear receptor interacting factor 1							108.0	99.0	102.0					1																	111492686		2203	4300	6503	SO:0001819	synonymous_variant	55791				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	g.chr1:111492686T>C	AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"""receptor interacting factor 1"""	615354	"""chromosome 1 open reading frame 103"""	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.1656A>G	1.37:g.111492686T>C						LRIF1_ENST00000494675.1_Silent_p.K16K|LRIF1_ENST00000485275.2_Silent_p.K16K|RP11-96K19.2_ENST00000440689.1_RNA	p.K552K	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN			3	2046	-			552					Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Silent	SNP	ENST00000369763.4	37	c.1656A>G	CCDS30800.1																																																																																				0.358	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032932.2	NM_018372		11	18	0	0	0	1	0	11	18				
SAR1A	56681	broad.mit.edu	37	10	71912347	71912347	+	Splice_Site	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr10:71912347C>T	ENST00000373242.2	-	8	678	c.482G>A	c.(481-483)gGg>gAg	p.G161E	SAR1A_ENST00000373238.1_Splice_Site_p.G161E|SAR1A_ENST00000373241.4_Splice_Site_p.G161E|SAR1A_ENST00000431664.2_Splice_Site_p.G161E|SAR1A_ENST00000458634.2_Splice_Site_p.G118E	NM_001142648.1	NP_001136120.1	Q9NR31	SAR1A_HUMAN	secretion associated, Ras related GTPase 1A	161					intracellular protein transport (GO:0006886)|negative regulation of cargo loading into COPII-coated vesicle (GO:1901303)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|sarcoplasmic reticulum (GO:0016529)	GTP binding (GO:0005525)			NS(1)|endometrium(1)|large_intestine(1)|lung(3)	6						GGTCACATTCCCCTAAAGGAG	0.483																																						ENST00000373238.1																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(3)	6						c.e7-1		SAR1 homolog A (S. cerevisiae)							59.0	52.0	55.0					10																	71912347		2203	4300	6503	SO:0001630	splice_region_variant	56681				ER to Golgi vesicle-mediated transport|intracellular protein transport	Golgi apparatus	GTP binding|GTPase activity	g.chr10:71912347C>T		CCDS7298.1	10q22.1	2014-03-07	2014-03-07	2005-10-21	ENSG00000079332	ENSG00000079332			10534	protein-coding gene	gene with protein product		607691	"""SAR1a gene homolog (S. cerevisiae) 1"", ""SAR1a gene homolog 1 (S. cerevisiae)"", ""SAR1 homolog A (S. cerevisiae)"""	SARA1		10871277	Standard	NM_020150		Approved	SAR1, Sara	uc010qji.2	Q9NR31	OTTHUMG00000018400	ENST00000373242.2:c.481-1G>A	10.37:g.71912347C>T						SAR1A_ENST00000431664.2_Splice_Site_p.G161_splice|SAR1A_ENST00000373242.1_Splice_Site_p.G161_splice|SAR1A_ENST00000458634.2_Splice_Site_p.G118_splice|SAR1A_ENST00000373241.4_Splice_Site_p.G161_splice	p.G161_splice			Q9NR31	SAR1A_HUMAN			7	839	-			161					B4DQ19	Splice_Site	SNP	ENST00000373242.2	37	c.480_splice	CCDS7298.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.767939	0.90020	.	.	ENSG00000079332	ENST00000373241;ENST00000373239;ENST00000373238;ENST00000373242;ENST00000431664;ENST00000458634;ENST00000395026	D;D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58;-1.58	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.88228	0.6380	M	0.80028	2.48	0.80722	D	1	P	0.50819	0.939	P	0.49752	0.621	D	0.89582	0.3821	10	0.66056	D	0.02	.	18.2046	0.89851	0.0:1.0:0.0:0.0	.	161	Q9NR31	SAR1A_HUMAN	E	161;161;161;161;161;118;80	ENSP00000362338:G161E;ENSP00000362335:G161E;ENSP00000362339:G161E;ENSP00000399698:G161E;ENSP00000437979:G118E	ENSP00000362335:G161E	G	-	2	0	SAR1A	71582353	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.658000	0.90341	0.585000	0.79938	GGG		0.483	SAR1A-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048500.2		Missense_Mutation	14	6	0	0	0	1	0	14	6				
AIMP2	7965	broad.mit.edu	37	7	6057622	6057622	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:6057622A>G	ENST00000223029.3	+	3	639	c.520A>G	c.(520-522)Aaa>Gaa	p.K174E	AIMP2_ENST00000395236.2_Missense_Mutation_p.K105E|SNORA42_ENST00000384488.1_RNA|AIMP2_ENST00000400479.2_Missense_Mutation_p.K96E	NM_006303.3	NP_006294.2	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 2	174	Interaction with TP53.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|tRNA aminoacylation for protein translation (GO:0006418)|Type II pneumocyte differentiation (GO:0060510)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						AGAACAGAATAAAAAACAGCC	0.502																																						ENST00000223029.3																			0				large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						c.(520-522)Aaa>Gaa		aminoacyl tRNA synthetase complex-interacting multifunctional protein 2							47.0	47.0	47.0					7																	6057622		2203	4300	6503	SO:0001583	missense	7965				apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation	cytosol|nucleus	protein binding	g.chr7:6057622A>G	U24169	CCDS5344.1	7p22.1	2009-05-29			ENSG00000106305	ENSG00000106305			20609	protein-coding gene	gene with protein product		600859				8666379, 18695251	Standard	NM_006303		Approved	p38, PRO0992, JTV-1, JTV1	uc003spo.3	Q13155	OTTHUMG00000122077	ENST00000223029.3:c.520A>G	7.37:g.6057622A>G	ENSP00000223029:p.Lys174Glu					AIMP2_ENST00000395236.2_Missense_Mutation_p.K105E|AIMP2_ENST00000400479.2_Missense_Mutation_p.K96E	p.K174E	NM_006303.3	NP_006294.2	Q13155	AIMP2_HUMAN			3	639	+			174			Interaction with TP53.		Q75MR1|Q96CZ5|Q9P1L2	Missense_Mutation	SNP	ENST00000223029.3	37	c.520A>G	CCDS5344.1	.	.	.	.	.	.	.	.	.	.	A	4.330	0.060721	0.08339	.	.	ENSG00000106305	ENST00000223029;ENST00000400479;ENST00000395236	T;T;T	0.30981	1.51;1.53;1.54	5.82	2.04	0.26737	.	0.424118	0.28883	N	0.013834	T	0.22589	0.0545	L	0.50919	1.6	0.09310	N	1	B	0.20261	0.043	B	0.24541	0.054	T	0.34527	-0.9825	10	0.07813	T	0.8	-3.6815	8.2956	0.31984	0.6849:0.2504:0.0647:0.0	.	174	Q13155	AIMP2_HUMAN	E	174;96;105	ENSP00000223029:K174E;ENSP00000383327:K96E;ENSP00000378658:K105E	ENSP00000223029:K174E	K	+	1	0	AIMP2	6024148	0.014000	0.17966	0.002000	0.10522	0.731000	0.41821	2.410000	0.44592	0.107000	0.17824	-0.291000	0.09656	AAA		0.502	AIMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242834.2	NM_006303		13	20	0	0	0	1	0	13	20				
ADCY1	107	broad.mit.edu	37	7	45614752	45614752	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:45614752C>A	ENST00000297323.7	+	1	632	c.610C>A	c.(610-612)Ccc>Acc	p.P204T	ADCY1_ENST00000432715.1_5'UTR	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	204					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)	CACCTTGGTCCCCGCCAAGCG	0.652																																						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.(610-612)Ccc>Acc		adenylate cyclase 1 (brain)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)						21.0	21.0	21.0					7																	45614752		2198	4282	6480	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.chr7:45614752C>A	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.610C>A	7.37:g.45614752C>A	ENSP00000297323:p.Pro204Thr					ADCY1_ENST00000432715.1_5'UTR	p.P204T	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN			1	632	+			204					A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	c.610C>A	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	C	4.775	0.144083	0.09134	.	.	ENSG00000164742	ENST00000297323;ENST00000545300	T	0.79352	-1.26	3.7	2.71	0.32032	.	0.224357	0.35708	N	0.003025	T	0.48169	0.1485	N	0.02802	-0.49	0.29523	N	0.853357	B	0.02656	0.0	B	0.08055	0.003	T	0.39418	-0.9615	10	0.13108	T	0.6	.	7.8371	0.29376	0.3839:0.6161:0.0:0.0	.	204	Q08828	ADCY1_HUMAN	T	204	ENSP00000297323:P204T	ENSP00000297323:P204T	P	+	1	0	ADCY1	45581277	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	4.682000	0.61671	1.879000	0.54435	0.205000	0.17691	CCC		0.652	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		13	24	1	0	2.23348e-06	1	2.53415e-06	13	24				
ENAM	10117	broad.mit.edu	37	4	71509351	71509351	+	Silent	SNP	T	T	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:71509351T>C	ENST00000396073.3	+	9	2489	c.2208T>C	c.(2206-2208)acT>acC	p.T736T	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	736					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CAGCTTCTACTATGCCACCAC	0.428																																						ENST00000396073.3																			0				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6						c.(2206-2208)acT>acC		enamelin							68.0	70.0	69.0					4																	71509351		2201	4299	6500	SO:0001819	synonymous_variant	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71509351T>C	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.2208T>C	4.37:g.71509351T>C						ENAM_ENST00000472903.1_Intron	p.T736T	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		9	2489	+			736					Q17RI5|Q9H3D1	Silent	SNP	ENST00000396073.3	37	c.2208T>C	CCDS3544.2																																																																																				0.428	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		16	52	0	0	0	1	0	16	52				
GABRG3	2567	broad.mit.edu	37	15	27772638	27772638	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr15:27772638C>A	ENST00000333743.6	+	8	1179	c.925C>A	c.(925-927)Cgc>Agc	p.R309S	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	309					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|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)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GTCCTTGCCACGCGTGTCCTA	0.562																																					NSCLC(114;800 1656 7410 37729 45293)	ENST00000333743.6																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42						c.(925-927)Cgc>Agc		gamma-aminobutyric acid (GABA) A receptor, gamma 3							125.0	121.0	122.0					15																	27772638		2194	4291	6485	SO:0001583	missense	2567				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27772638C>A		CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4088	protein-coding gene	gene with protein product	"""GABA(G) receptor, gamma 3"""	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.925C>A	15.37:g.27772638C>A	ENSP00000331912:p.Arg309Ser					RP11-100M12.3_ENST00000556642.1_RNA	p.R309S	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	8	1179	+		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)	309					G3V594|Q9HD46|Q9NYT2	Missense_Mutation	SNP	ENST00000333743.6	37	c.925C>A	CCDS45195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.25|14.25	2.480354|2.480354	0.44044|0.44044	.|.	.|.	ENSG00000182256|ENSG00000182256	ENST00000451330|ENST00000333743;ENST00000554696	.|D;D	.|0.83506	.|-1.73;-1.73	5.48|5.48	2.51|2.51	0.30379|0.30379	.|Neurotransmitter-gated ion-channel transmembrane domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.87993|0.87993	0.6318|0.6318	M|M	0.71206|0.71206	2.165|2.165	0.41445|0.41445	D|D	0.987949|0.987949	.|D	.|0.69078	.|0.997	.|D	.|0.68943	.|0.961	D|D	0.86395|0.86395	0.1738|0.1738	5|10	.|0.87932	.|D	.|0	.|.	8.7075|8.7075	0.34363|0.34363	0.2697:0.6595:0.0:0.0708|0.2697:0.6595:0.0:0.0708	.|.	.|309	.|Q99928	.|GBRG3_HUMAN	Q|S	71|309;251	.|ENSP00000331912:R309S;ENSP00000451862:R251S	.|ENSP00000331912:R309S	H|R	+|+	3|1	2|0	GABRG3|GABRG3	25446233|25446233	0.975000|0.975000	0.34042|0.34042	0.001000|0.001000	0.08648|0.08648	0.141000|0.141000	0.21300|0.21300	2.473000|2.473000	0.45145|0.45145	0.253000|0.253000	0.21552|0.21552	0.563000|0.563000	0.77884|0.77884	CAC|CGC		0.562	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2			14	18	1	0	3.27435e-08	1	3.89839e-08	14	18				
OR13C3	138803	broad.mit.edu	37	9	107299059	107299059	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:107299059C>A	ENST00000374781.2	-	1	78	c.36G>T	c.(34-36)ttG>ttT	p.L12F		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	12						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						TATTTACTGCCAAGAAACAAA	0.353																																					GBM(86;1248 1274 14222 15028 46219)	ENST00000374781.2																			0				endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						c.(34-36)ttG>ttT		olfactory receptor, family 13, subfamily C, member 3							64.0	62.0	62.0					9																	107299059		2203	4300	6503	SO:0001583	missense	138803				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107299059C>A		CCDS35089.1	9q31.1	2013-09-24			ENSG00000204246	ENSG00000204246		"""GPCR / Class A : Olfactory receptors"""	14704	protein-coding gene	gene with protein product							Standard	NM_001001961		Approved		uc004bcb.1	Q8NGS6	OTTHUMG00000020406	ENST00000374781.2:c.36G>T	9.37:g.107299059C>A	ENSP00000363913:p.Leu12Phe						p.L12F	NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN			1	78	-			12					Q5VVG1|Q6IF52	Missense_Mutation	SNP	ENST00000374781.2	37	c.36G>T	CCDS35089.1	.	.	.	.	.	.	.	.	.	.	C	5.824	0.336212	0.11013	.	.	ENSG00000204246	ENST00000374781	T	0.09163	3.01	5.07	-3.24	0.05094	.	.	.	.	.	T	0.04048	0.0113	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.39742	-0.9599	9	0.66056	D	0.02	.	0.5016	0.00581	0.3642:0.2324:0.1193:0.2841	.	12	Q8NGS6	O13C3_HUMAN	F	12	ENSP00000363913:L12F	ENSP00000363913:L12F	L	-	3	2	OR13C3	106338880	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.169000	0.09911	-0.585000	0.05905	-0.169000	0.13324	TTG		0.353	OR13C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053477.2			16	22	1	0	3.52763e-06	1	3.96859e-06	16	22				
PTPRT	11122	broad.mit.edu	37	20	41306786	41306786	+	Silent	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr20:41306786G>T	ENST00000373187.1	-	7	872	c.873C>A	c.(871-873)ccC>ccA	p.P291P	PTPRT_ENST00000373193.3_Silent_p.P291P|PTPRT_ENST00000356100.2_Silent_p.P291P|PTPRT_ENST00000373198.4_Silent_p.P291P|PTPRT_ENST00000373190.1_Silent_p.P291P|PTPRT_ENST00000373201.1_Silent_p.P291P|PTPRT_ENST00000373184.1_Silent_p.P291P			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	291	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGGGAGCAATGGGCGTGGGAG	0.517																																						ENST00000373198.3																			0				NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176						c.(871-873)ccC>ccA		protein tyrosine phosphatase, receptor type, T							44.0	46.0	45.0					20																	41306786		1913	4123	6036	SO:0001819	synonymous_variant	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:41306786G>T	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.873C>A	20.37:g.41306786G>T						PTPRT_ENST00000373193.3_Silent_p.P291P|PTPRT_ENST00000373201.1_Silent_p.P291P|PTPRT_ENST00000373187.1_Silent_p.P291P|PTPRT_ENST00000356100.2_Silent_p.P291P|PTPRT_ENST00000373190.1_Silent_p.P291P|PTPRT_ENST00000373184.1_Silent_p.P291P	p.P291P	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN			7	1108	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	291			Fibronectin type-III 1.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP	ENST00000373187.1	37	c.873C>A	CCDS42874.1																																																																																				0.517	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			10	14	1	0	0.0692343	1	0.0708351	10	14				
CACNA1B	774	broad.mit.edu	37	9	141016147	141016147	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:141016147T>A	ENST00000371372.1	+	47	6861	c.6716T>A	c.(6715-6717)cTg>cAg	p.L2239Q	CACNA1B_ENST00000371363.1_Missense_Mutation_p.L2237Q|CACNA1B_ENST00000277549.5_Missense_Mutation_p.L1433Q|CACNA1B_ENST00000371355.4_Missense_Mutation_p.L2240Q|CACNA1B_ENST00000371357.1_Missense_Mutation_p.L2238Q|CACNA1B_ENST00000277551.2_Missense_Mutation_p.C2177S	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2239					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	AACGCCCTGCTGCAGAGAGAC	0.672																																						ENST00000277549.5																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(4297-4299)cTg>cAg		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						34.0	41.0	38.0					9																	141016147		2031	4175	6206	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:141016147T>A	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.6716T>A	9.37:g.141016147T>A	ENSP00000360423:p.Leu2239Gln					CACNA1B_ENST00000371363.1_Missense_Mutation_p.L2237Q|CACNA1B_ENST00000277551.2_Missense_Mutation_p.C2177S|CACNA1B_ENST00000371355.4_Missense_Mutation_p.L2240Q|CACNA1B_ENST00000371357.1_Missense_Mutation_p.L2238Q|CACNA1B_ENST00000371372.1_Missense_Mutation_p.L2239Q	p.L1433Q			Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	47	6867	+	all_cancers(76;0.166)		2239					B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.4298T>A	CCDS59522.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.23|17.23	3.337894|3.337894	0.60963|0.60963	.|.	.|.	ENSG00000148408|ENSG00000148408	ENST00000277551|ENST00000371372;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D|D;D;D;D;D	0.95756|0.97303	-3.8|-4.09;-4.33;-4.09;-4.08;-4.08	5.11|5.11	3.93|3.93	0.45458|0.45458	.|.	.|0.688531	.|0.13748	.|N	.|0.365475	D|D	0.97467|0.97467	0.9171|0.9171	M|M	0.71581|0.71581	2.175|2.175	0.51482|0.51482	D|D	0.999926|0.999926	.|D;D	.|0.65815	.|0.995;0.995	.|P;P	.|0.59487	.|0.858;0.858	D|D	0.94917|0.94917	0.8070|0.8070	7|10	0.15499|0.34782	T|T	0.54|0.22	.|.	11.1064|11.1064	0.48205|0.48205	0.1387:0.0:0.0:0.8613|0.1387:0.0:0.0:0.8613	.|.	.|2238;2237	.|B1AQK7;B1AQK6	.|.;.	S|Q	2177|2239;1433;2237;2238;2240	ENSP00000277551:C2177S|ENSP00000360423:L2239Q;ENSP00000277549:L1433Q;ENSP00000360414:L2237Q;ENSP00000360408:L2238Q;ENSP00000360406:L2240Q	ENSP00000277551:C2177S|ENSP00000277549:L1433Q	C|L	+|+	1|2	0|0	CACNA1B|CACNA1B	140135968|140135968	1.000000|1.000000	0.71417|0.71417	0.969000|0.969000	0.41365|0.41365	0.484000|0.484000	0.33280|0.33280	4.002000|4.002000	0.57053|0.57053	0.744000|0.744000	0.32741|0.32741	0.454000|0.454000	0.30748|0.30748	TGC|CTG		0.672	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		23	25	0	0	0	1	0	23	25				
PRAME	23532	broad.mit.edu	37	22	22892241	22892241	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr22:22892241T>G	ENST00000398741.1	-	5	1166	c.860A>C	c.(859-861)cAg>cCg	p.Q287P	PRAME_ENST00000485532.1_5'Flank|PRAME_ENST00000402697.1_Missense_Mutation_p.Q287P|PRAME_ENST00000398743.2_Missense_Mutation_p.Q287P|PRAME_ENST00000405655.3_Missense_Mutation_p.Q287P|PRAME_ENST00000543184.1_Missense_Mutation_p.Q287P|PRAME_ENST00000539862.1_Missense_Mutation_p.Q271P|PRAME_ENST00000424204.2_Missense_Mutation_p.Q271P	NM_206955.1	NP_996838.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	287					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	retinoic acid receptor binding (GO:0042974)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		AGAGGTGAACTGGGCGATATA	0.522																																					Melanoma(73;1707 1838 15168 27201)	ENST00000543184.1																			0				autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(859-861)cAg>cCg		preferentially expressed antigen in melanoma							103.0	88.0	93.0					22																	22892241		2203	4300	6503	SO:0001583	missense	23532				apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding	g.chr22:22892241T>G	U65011	CCDS13801.1	22q11.22	2013-01-17			ENSG00000185686	ENSG00000185686		"""-"""	9336	protein-coding gene	gene with protein product	"""cancer/testis antigen 130"""	606021		MAPE		9047241, 10591208	Standard	XM_006725402		Approved	CT130	uc002zwj.3	P78395	OTTHUMG00000151172	ENST00000398741.1:c.860A>C	22.37:g.22892241T>G	ENSP00000381726:p.Gln287Pro					PRAME_ENST00000398743.2_Missense_Mutation_p.Q287P|PRAME_ENST00000398741.1_Missense_Mutation_p.Q287P|PRAME_ENST00000405655.3_Missense_Mutation_p.Q287P|PRAME_ENST00000402697.1_Missense_Mutation_p.Q287P|PRAME_ENST00000539862.1_Missense_Mutation_p.Q271P|PRAME_ENST00000424204.2_Missense_Mutation_p.Q271P	p.Q287P	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN		READ - Rectum adenocarcinoma(21;0.0649)	4	1722	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)	287					B2R6Y7|O43481|Q8IXN8	Missense_Mutation	SNP	ENST00000398741.1	37	c.860A>C	CCDS13801.1	.	.	.	.	.	.	.	.	.	.	T	14.28	2.487683	0.44249	.	.	ENSG00000185686	ENST00000398743;ENST00000543184;ENST00000398741;ENST00000405655;ENST00000539862;ENST00000402697;ENST00000424204	T;T;T;T;T;T;T	0.15139	2.45;2.45;2.45;2.45;2.45;2.45;2.45	3.78	2.72	0.32119	.	0.306680	0.30356	N	0.009803	T	0.38612	0.1047	M	0.84156	2.68	0.22081	N	0.999371	D	0.89917	1.0	D	0.78314	0.991	T	0.11867	-1.0570	10	0.72032	D	0.01	.	6.3696	0.21473	0.2192:0.0:0.0:0.7808	.	287	P78395	PRAME_HUMAN	P	287;287;287;287;271;287;271	ENSP00000381728:Q287P;ENSP00000445675:Q287P;ENSP00000381726:Q287P;ENSP00000384343:Q287P;ENSP00000445097:Q271P;ENSP00000385198:Q287P;ENSP00000407342:Q271P	ENSP00000381726:Q287P	Q	-	2	0	PRAME	21222241	0.198000	0.23374	0.525000	0.27900	0.520000	0.34377	0.600000	0.24104	0.770000	0.33336	0.533000	0.62120	CAG		0.522	PRAME-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321644.1	NM_206953		19	44	0	0	0	1	0	19	44				
PRKCI	5584	broad.mit.edu	37	3	169977769	169977769	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr3:169977769C>T	ENST00000295797.4	+	3	541	c.236C>T	c.(235-237)aCa>aTa	p.T79I		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	79	Interaction with PARD6A.|OPR.|Regulatory domain.				actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	GACCCGTGTACAGTATCATCT	0.323																																						ENST00000295797.4																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36						c.(235-237)aCa>aTa		protein kinase C, iota							129.0	125.0	126.0					3																	169977769		2203	4299	6502	SO:0001583	missense	5584				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding	g.chr3:169977769C>T		CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.236C>T	3.37:g.169977769C>T	ENSP00000295797:p.Thr79Ile						p.T79I	NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		3	541	+	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		79			Interaction with PARD6A.|OPR.|Regulatory domain.		D3DNQ4|Q8WW06	Missense_Mutation	SNP	ENST00000295797.4	37	c.236C>T	CCDS3212.2	.	.	.	.	.	.	.	.	.	.	C	23.0	4.366335	0.82463	.	.	ENSG00000163558	ENST00000295797	T	0.59224	0.28	5.05	5.05	0.67936	Phox/Bem1p (2);	0.000000	0.85682	D	0.000000	T	0.60143	0.2246	M	0.74258	2.255	0.80722	D	1	B	0.23442	0.085	B	0.24394	0.053	T	0.58457	-0.7633	9	.	.	.	.	18.0613	0.89378	0.0:1.0:0.0:0.0	.	79	P41743	KPCI_HUMAN	I	79	ENSP00000295797:T79I	.	T	+	2	0	PRKCI	171460463	1.000000	0.71417	0.998000	0.56505	0.786000	0.44442	6.598000	0.74122	2.365000	0.80145	0.585000	0.79938	ACA		0.323	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316866.3	NM_002740		17	41	0	0	0	1	0	17	41				
MEMO1	51072	broad.mit.edu	37	2	32093471	32093471	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:32093471T>G	ENST00000295065.5	-	9	1162	c.853A>C	c.(853-855)Agt>Cgt	p.S285R	MEMO1_ENST00000426310.2_Missense_Mutation_p.S262R|DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000379383.3_Missense_Mutation_p.S288R|MEMO1_ENST00000490459.1_5'UTR|MEMO1_ENST00000404530.1_Missense_Mutation_p.S285R	NM_015955.2	NP_057039.1	Q9Y316	MEMO1_HUMAN	mediator of cell motility 1	285					regulation of microtubule-based process (GO:0032886)	cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17	Acute lymphoblastic leukemia(172;0.155)					CTCACTGAACTGTCTTGCCAG	0.478																																						ENST00000295065.4																			0				NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17						c.(853-855)Agt>Cgt		mediator of cell motility 1							23.0	21.0	22.0					2																	32093471		2202	4280	6482	SO:0001583	missense	51072				regulation of microtubule-based process	cytosol|nucleus		g.chr2:32093471T>G	AF132961	CCDS1776.1, CCDS46255.1	2p22-p21	2010-05-24	2007-02-12	2007-02-12	ENSG00000162959	ENSG00000162959			14014	protein-coding gene	gene with protein product		611786	"""chromosome 2 open reading frame 4"""	C2orf4		15156151	Standard	NM_015955		Approved	CGI-27, MEMO	uc002rnx.3	Q9Y316	OTTHUMG00000128453	ENST00000295065.5:c.853A>C	2.37:g.32093471T>G	ENSP00000295065:p.Ser285Arg					MEMO1_ENST00000426310.2_Missense_Mutation_p.S262R|MEMO1_ENST00000490459.1_5'UTR|DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000404530.1_Missense_Mutation_p.S285R|MEMO1_ENST00000379383.3_Missense_Mutation_p.S288R	p.S285R	NM_015955.2	NP_057039.1	Q9Y316	MEMO1_HUMAN			9	1162	-	Acute lymphoblastic leukemia(172;0.155)		285					B4DLS0|D6W575|Q5R2V8|Q5R2V9|Q6NSL5	Missense_Mutation	SNP	ENST00000295065.5	37	c.853A>C	CCDS1776.1	.	.	.	.	.	.	.	.	.	.	T	18.81	3.703952	0.68501	.	.	ENSG00000162959	ENST00000295065;ENST00000379383;ENST00000404530;ENST00000426310	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.80534	0.4641	M	0.82630	2.6	0.80722	D	1	D;D	0.89917	0.994;1.0	D;D	0.97110	0.944;1.0	D	0.83896	0.0287	9	0.87932	D	0	-7.0312	15.0912	0.72195	0.0:0.0:0.0:1.0	.	262;285	Q9Y316-2;Q9Y316	.;MEMO1_HUMAN	R	285;288;285;262	.	ENSP00000295065:S285R	S	-	1	0	MEMO1	31946975	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.794000	0.85869	2.109000	0.64355	0.528000	0.53228	AGT		0.478	MEMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250251.2	NM_015955		5	7	0	0	0	1	0	5	7				
DCDC2B	149069	broad.mit.edu	37	1	32678210	32678210	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:32678210C>A	ENST00000409358.1	+	5	647	c.647C>A	c.(646-648)cCc>cAc	p.P216H		NM_001099434.1	NP_001092904.1	A2VCK2	DCD2B_HUMAN	doublecortin domain containing 2B	216					intracellular signal transduction (GO:0035556)					breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CTGCTGGTGCCCAGCCCCTCC	0.602																																						ENST00000409358.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	11						c.(646-648)cCc>cAc		doublecortin domain containing 2B							84.0	89.0	87.0					1																	32678210		1999	4164	6163	SO:0001583	missense	149069				intracellular signal transduction			g.chr1:32678210C>A	BC128073	CCDS44100.1	1p35.1	2008-05-13			ENSG00000222046	ENSG00000222046			32576	protein-coding gene	gene with protein product							Standard	NM_001099434		Approved		uc001bun.2	A2VCK2	OTTHUMG00000005741	ENST00000409358.1:c.647C>A	1.37:g.32678210C>A	ENSP00000386870:p.Pro216His						p.P216H	NM_001099434.1	NP_001092904.1	A2VCK2	DCD2B_HUMAN			5	647	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	216					B7ZBC6	Missense_Mutation	SNP	ENST00000409358.1	37	c.647C>A	CCDS44100.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.779068	0.49891	.	.	ENSG00000222046	ENST00000409358	D	0.86694	-2.16	5.23	5.23	0.72850	Doublecortin domain (2);	.	.	.	.	D	0.86318	0.5904	M	0.68952	2.095	0.40844	D	0.983691	B	0.21753	0.06	B	0.20577	0.03	T	0.83293	-0.0032	9	0.38643	T	0.18	.	16.9423	0.86221	0.0:1.0:0.0:0.0	.	216	A2VCK2	DCD2B_HUMAN	H	216	ENSP00000386870:P216H	ENSP00000386870:P216H	P	+	2	0	DCDC2B	32450797	1.000000	0.71417	0.987000	0.45799	0.796000	0.44982	6.072000	0.71238	2.615000	0.88500	0.655000	0.94253	CCC		0.602	DCDC2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328293.1	XM_940631		20	49	1	0	3.99206e-14	1	5.23403e-14	20	49				
TIAM1	7074	broad.mit.edu	37	21	32508301	32508301	+	Missense_Mutation	SNP	G	G	A	rs148086955		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr21:32508301G>A	ENST00000286827.3	-	24	4304	c.3833C>T	c.(3832-3834)cCg>cTg	p.P1278L	TIAM1_ENST00000541036.1_Missense_Mutation_p.P1218L	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1278	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CGAGGCCGGCGGGTTCAGCCA	0.507																																						ENST00000286827.3																			0				autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						c.(3832-3834)cCg>cTg		T-cell lymphoma invasion and metastasis 1		G	LEU/PRO	0,4406		0,0,2203	94.0	91.0	92.0		3833	5.5	1.0	21	dbSNP_134	92	1,8599	1.2+/-3.3	0,1,4299	no	missense	TIAM1	NM_003253.2	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1278/1592	32508301	1,13005	2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32508301G>A		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.3833C>T	21.37:g.32508301G>A	ENSP00000286827:p.Pro1278Leu					TIAM1_ENST00000541036.1_Missense_Mutation_p.P1218L	p.P1278L	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN			24	4304	-			1278			PH 2.		B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.3833C>T	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	G	34	5.399995	0.96030	0.0	1.16E-4	ENSG00000156299	ENST00000286827;ENST00000541036	T;T	0.46451	0.87;0.89	5.49	5.49	0.81192	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.65491	0.2696	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.62914	-0.6753	10	0.38643	T	0.18	.	19.3968	0.94610	0.0:0.0:1.0:0.0	.	1218;1218;1278	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	L	1278;1218	ENSP00000286827:P1278L;ENSP00000441570:P1218L	ENSP00000286827:P1278L	P	-	2	0	TIAM1	31430172	1.000000	0.71417	0.979000	0.43373	0.947000	0.59692	9.810000	0.99221	2.565000	0.86533	0.655000	0.94253	CCG		0.507	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		26	8	0	0	0	1	0	26	8				
PCDH15	65217	broad.mit.edu	37	10	56138609	56138609	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr10:56138609C>A	ENST00000320301.6	-	4	645	c.251G>T	c.(250-252)tGg>tTg	p.W84L	PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395440.1_Missense_Mutation_p.W84L|PCDH15_ENST00000414778.1_Missense_Mutation_p.W89L|PCDH15_ENST00000361849.3_Missense_Mutation_p.W84L|PCDH15_ENST00000373965.2_Missense_Mutation_p.W84L|PCDH15_ENST00000373957.3_Missense_Mutation_p.W62L|PCDH15_ENST00000395438.1_Missense_Mutation_p.W84L|PCDH15_ENST00000395445.1_Missense_Mutation_p.W84L|PCDH15_ENST00000395442.1_Missense_Mutation_p.W84L|PCDH15_ENST00000395432.2_Missense_Mutation_p.W84L|PCDH15_ENST00000395433.1_Missense_Mutation_p.W62L|PCDH15_ENST00000395446.1_Missense_Mutation_p.W84L|PCDH15_ENST00000373955.1_Missense_Mutation_p.W84L|PCDH15_ENST00000395430.1_Missense_Mutation_p.W84L|PCDH15_ENST00000437009.1_Missense_Mutation_p.W84L	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	84	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)				CATCAACACCCAGTAATCCAC	0.423										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.(250-252)tGg>tTg		protocadherin-related 15							152.0	159.0	157.0					10																	56138609		2203	4300	6503	SO:0001583	missense	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.chr10:56138609C>A	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.251G>T	10.37:g.56138609C>A	ENSP00000322604:p.Trp84Leu	HNSCC(58;0.16)				PCDH15_ENST00000414778.1_Missense_Mutation_p.W89L|PCDH15_ENST00000395440.1_Missense_Mutation_p.W84L|PCDH15_ENST00000320301.6_Missense_Mutation_p.W84L|PCDH15_ENST00000373957.3_Missense_Mutation_p.W62L|PCDH15_ENST00000361849.3_Missense_Mutation_p.W84L|PCDH15_ENST00000437009.1_Missense_Mutation_p.W84L|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.W84L|PCDH15_ENST00000395438.1_Missense_Mutation_p.W84L|PCDH15_ENST00000395442.1_Missense_Mutation_p.W84L|PCDH15_ENST00000373955.1_Missense_Mutation_p.W84L|PCDH15_ENST00000395446.1_Missense_Mutation_p.W84L|PCDH15_ENST00000395433.1_Missense_Mutation_p.W62L|PCDH15_ENST00000395432.2_Missense_Mutation_p.W84L|PCDH15_ENST00000395430.1_Missense_Mutation_p.W84L	p.W84L	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			4	645	-		Melanoma(3;0.117)|Lung SC(717;0.238)	84			Cadherin 1.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.251G>T	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.989603	0.93106	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955;ENST00000458638	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.65364	0.5;0.44;0.43;0.46;0.54;0.84;0.75;0.35;0.3;0.16;0.42;0.3;0.3;0.41;0.55;-0.15	5.3	5.3	0.74995	Cadherin (1);	.	.	.	.	T	0.70500	0.3231	L	0.36672	1.1	0.54753	D	0.999983	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.997;1.0;0.998;0.998;0.999;1.0;0.997;0.999;0.993;0.987;1.0;1.0;1.0;1.0;0.998	D;D;D;D;D;D;D;D;D;P;D;D;D;D;D	0.91635	0.995;0.987;0.965;0.965;0.998;0.987;0.995;0.998;0.949;0.877;0.999;0.999;0.999;0.998;0.965	T	0.63862	-0.6541	9	0.15952	T	0.53	.	18.5421	0.91031	0.0:1.0:0.0:0.0	.	62;84;84;89;84;84;84;84;84;84;84;89;84;62;84	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	L	84;89;84;84;84;84;84;84;84;84;62;62;84;84;89;84;84;84	ENSP00000363076:W84L;ENSP00000410304:W89L;ENSP00000378826:W84L;ENSP00000378832:W84L;ENSP00000378833:W84L;ENSP00000378829:W84L;ENSP00000378827:W84L;ENSP00000378820:W84L;ENSP00000354950:W84L;ENSP00000378821:W62L;ENSP00000363068:W62L;ENSP00000322604:W84L;ENSP00000378818:W84L;ENSP00000412628:W84L;ENSP00000363066:W84L;ENSP00000394465:W84L	ENSP00000322604:W84L	W	-	2	0	PCDH15	55808615	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.805000	0.86005	2.504000	0.84457	0.643000	0.83706	TGG		0.423	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		47	50	1	0	9.82405e-12	1	1.24798e-11	47	50				
CEP250	11190	broad.mit.edu	37	20	34089671	34089671	+	Splice_Site	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr20:34089671G>C	ENST00000397527.1	+	29	4618		c.e29-1		CEP250_ENST00000342580.4_Splice_Site	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa						centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			tcttctcAAAGAGAAATCCAA	0.478																																						ENST00000397527.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.e29-1		centrosomal protein 250kDa							48.0	47.0	47.0					20																	34089671		2202	4299	6501	SO:0001630	splice_region_variant	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34089671G>C	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.3899-1G>C	20.37:g.34089671G>C						CEP250_ENST00000342580.4_Splice_Site		NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		29	4618	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)							E1P5Q3|O14812|O60588|Q9H450	Splice_Site	SNP	ENST00000397527.1	37		CCDS13255.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.080334	0.55753	.	.	ENSG00000126001	ENST00000397527;ENST00000342580	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3214	0.49424	0.0:0.1834:0.8166:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CEP250	33553085	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	4.573000	0.60893	2.549000	0.85964	0.650000	0.86243	.		0.478	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186	Intron	7	7	0	0	0	1	0	7	7				
SYCP2	10388	broad.mit.edu	37	20	58449032	58449032	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr20:58449032G>T	ENST00000357552.3	-	35	3659	c.3434C>A	c.(3433-3435)tCa>tAa	p.S1145*	SYCP2_ENST00000371001.2_Nonsense_Mutation_p.S1145*			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1145					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GGATTCAAGTGATGAAGTTTT	0.328																																						ENST00000357552.3																			0				NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(3433-3435)tCa>tAa		synaptonemal complex protein 2							145.0	129.0	134.0					20																	58449032		2202	4300	6502	SO:0001587	stop_gained	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58449032G>T	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.3434C>A	20.37:g.58449032G>T	ENSP00000350162:p.Ser1145*					SYCP2_ENST00000371001.2_Nonsense_Mutation_p.S1145*	p.S1145*			Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		35	3659	-	all_lung(29;0.00344)		1145					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Nonsense_Mutation	SNP	ENST00000357552.3	37	c.3434C>A	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	G	43	10.021067	0.99319	.	.	ENSG00000196074	ENST00000371001;ENST00000357552	.	.	.	5.45	5.45	0.79879	.	0.233425	0.29853	N	0.011024	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.4152	16.3588	0.83245	0.0:0.0:1.0:0.0	.	.	.	.	X	1145	.	ENSP00000350162:S1145X	S	-	2	0	SYCP2	57882427	1.000000	0.71417	0.988000	0.46212	0.898000	0.52572	5.111000	0.64628	2.720000	0.93068	0.563000	0.77884	TCA		0.328	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		9	20	1	0	0.000442599	1	0.000479633	9	20				
HIST1H2AM	8336	broad.mit.edu	37	6	27860843	27860843	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:27860843C>A	ENST00000359611.2	-	1	120	c.85G>T	c.(85-87)Gga>Tga	p.G29*	HIST1H3J_ENST00000479986.1_5'UTR|HIST1H3J_ENST00000359303.2_5'Flank|HIST1H2BO_ENST00000303806.4_5'Flank	NM_003514.2	NP_003505.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2am	29						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)	14						TGCACTCGTCCTACAGGAAAT	0.647																																						ENST00000359611.2																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)	14						c.(85-87)Gga>Tga		histone cluster 1, H2am							40.0	44.0	43.0					6																	27860843		2203	4300	6503	SO:0001587	stop_gained	8336				nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	g.chr6:27860843C>A	X57138	CCDS4639.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000233224	ENSG00000278677		"""Histones / Replication-dependent"""	4735	protein-coding gene	gene with protein product		602796	"""H2A histone family, member N"", ""histone 1, H2am"""	H2AFN		1768865, 9439656, 12408966	Standard	NM_003514		Approved	H2A/n, H2A.1	uc003nkb.1	P0C0S8	OTTHUMG00000014494	ENST00000359611.2:c.85G>T	6.37:g.27860843C>A	ENSP00000352627:p.Gly29*					HIST1H3J_ENST00000479986.1_5'UTR	p.G29*	NM_003514.2	NP_003505.1	P0C0S8	H2A1_HUMAN			1	120	-			29					P02261|Q2M1R2|Q76PA6	Nonsense_Mutation	SNP	ENST00000359611.2	37	c.85G>T	CCDS4639.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.190108	0.58017	.	.	ENSG00000233224	ENST00000359611	.	.	.	3.92	3.92	0.45320	.	0.000000	0.30781	U	0.008890	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.7198	0.77700	0.0:1.0:0.0:0.0	.	.	.	.	X	29	.	ENSP00000352627:G29X	G	-	1	0	HIST1H2AM	27968822	1.000000	0.71417	0.997000	0.53966	0.044000	0.14063	7.199000	0.77831	2.475000	0.83589	0.561000	0.74099	GGA		0.647	HIST1H2AM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040162.1	NM_003514		21	27	1	0	8.34094e-07	1	9.54534e-07	21	27				
CHDC2	286464	broad.mit.edu	37	X	36091373	36091373	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chrX:36091373A>G	ENST00000313548.4	+	4	494	c.308A>G	c.(307-309)aAg>aGg	p.K103R		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	103						integral component of membrane (GO:0016021)											GAAGGAACAAAGGCACACTAC	0.413																																						ENST00000378660.1																			0											c.(307-309)aAg>aGg		calponin homology domain containing 2							117.0	102.0	107.0					X																	36091373		2202	4300	6502	SO:0001583	missense	286464							g.chrX:36091373A>G	AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"""chromosome X open reading frame 59"""	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.308A>G	X.37:g.36091373A>G	ENSP00000324767:p.Lys103Arg					CHDC2_ENST00000313548.4_Missense_Mutation_p.K103R	p.K103R							4	496	+									Missense_Mutation	SNP	ENST00000313548.4	37	c.308A>G	CCDS14238.1	.	.	.	.	.	.	.	.	.	.	A	9.600	1.128368	0.21041	.	.	ENSG00000176034	ENST00000378660;ENST00000313548	.	.	.	4.9	2.4	0.29515	.	0.893166	0.09241	N	0.829219	T	0.27454	0.0674	L	0.27053	0.805	0.09310	N	1	B	0.19583	0.037	B	0.15052	0.012	T	0.26643	-1.0097	9	0.48119	T	0.1	-4.3403	3.6127	0.08066	0.6972:0.0:0.1078:0.1949	.	103	Q8N9S7	CX059_HUMAN	R	103	.	ENSP00000324767:K103R	K	+	2	0	CXorf59	36001294	0.057000	0.20700	0.001000	0.08648	0.012000	0.07955	1.307000	0.33516	0.094000	0.17404	0.430000	0.28490	AAG		0.413	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173695		19	17	0	0	0	1	0	19	17				
EXPH5	23086	broad.mit.edu	37	11	108380698	108380698	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:108380698T>A	ENST00000265843.4	-	6	5646	c.5536A>T	c.(5536-5538)Agt>Tgt	p.S1846C	EXPH5_ENST00000443411.1_Missense_Mutation_p.S1658C|EXPH5_ENST00000428840.1_Missense_Mutation_p.S1770C|EXPH5_ENST00000525344.1_Missense_Mutation_p.S1839C	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1846					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AATCTTCGACTGTACCCATTG	0.463																																						ENST00000265843.4																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91						c.(5536-5538)Agt>Tgt		exophilin 5							58.0	56.0	57.0					11																	108380698		2201	4298	6499	SO:0001583	missense	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108380698T>A		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.5536A>T	11.37:g.108380698T>A	ENSP00000265843:p.Ser1846Cys					EXPH5_ENST00000443411.1_Missense_Mutation_p.S1658C|EXPH5_ENST00000428840.1_Missense_Mutation_p.S1770C|EXPH5_ENST00000525344.1_Missense_Mutation_p.S1839C	p.S1846C	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	5646	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	1846					Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	c.5536A>T	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	T	11.58	1.681952	0.29872	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000439956	T;T;T;T	0.03386	4.18;4.1;3.95;4.18	6.17	3.57	0.40892	.	0.766426	0.12896	N	0.430184	T	0.06280	0.0162	L	0.47716	1.5	0.09310	N	1	B	0.32302	0.363	B	0.38755	0.281	T	0.28427	-1.0044	10	0.66056	D	0.02	-1.1679	10.1639	0.42868	0.0:0.1953:0.0:0.8047	.	1846	Q8NEV8	EXPH5_HUMAN	C	1846;1770;1658;1839;676	ENSP00000265843:S1846C;ENSP00000391966:S1770C;ENSP00000411390:S1658C;ENSP00000432546:S1839C	ENSP00000265843:S1846C	S	-	1	0	EXPH5	107885908	0.007000	0.16637	0.069000	0.20011	0.455000	0.32408	1.201000	0.32259	1.163000	0.42636	0.533000	0.62120	AGT		0.463	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		14	29	0	0	0	1	0	14	29				
MAPK1IP1L	93487	broad.mit.edu	37	14	55529486	55529486	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr14:55529486G>T	ENST00000395468.4	+	3	346	c.169G>T	c.(169-171)Gca>Tca	p.A57S	MAPK1IP1L_ENST00000554364.1_3'UTR	NM_144578.3	NP_653179.1	Q8NDC0	MISSL_HUMAN	mitogen-activated protein kinase 1 interacting protein 1-like	57	Pro-rich.									endometrium(2)|large_intestine(1)|lung(3)	6						CCCACCAAGTGCAACACCCTC	0.582																																						ENST00000395468.3																			0				endometrium(2)|large_intestine(1)|lung(3)	6						c.(169-171)Gca>Tca		mitogen-activated protein kinase 1 interacting protein 1-like							87.0	74.0	79.0					14																	55529486		2203	4300	6503	SO:0001583	missense	93487							g.chr14:55529486G>T	AK025580	CCDS32085.1	14q22.1	2008-01-30	2008-01-30	2008-01-16		ENSG00000168175			19840	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 32"", ""mitogen activated protein kinase 1 interacting protein 1-like"""	C14orf32		12011110	Standard	NM_144578		Approved		uc001xbq.1	Q8NDC0		ENST00000395468.4:c.169G>T	14.37:g.55529486G>T	ENSP00000378851:p.Ala57Ser					MAPK1IP1L_ENST00000554364.1_3'UTR	p.A57S	NM_144578.3	NP_653179.1	Q8NDC0	MISSL_HUMAN			3	346	+			57			Pro-rich.		B2RDD8|Q96BG5	Missense_Mutation	SNP	ENST00000395468.4	37	c.169G>T	CCDS32085.1	.	.	.	.	.	.	.	.	.	.	.	15.44	2.834243	0.50951	.	.	ENSG00000168175	ENST00000395468	.	.	.	5.31	5.31	0.75309	.	0.099642	0.44688	D	0.000439	T	0.17492	0.0420	N	0.12182	0.205	0.30157	N	0.802555	P	0.36909	0.573	B	0.35182	0.197	T	0.09509	-1.0671	9	0.15066	T	0.55	-11.1092	7.7581	0.28936	0.1327:0.0:0.8673:0.0	.	57	Q8NDC0	MISSL_HUMAN	S	57	.	ENSP00000378851:A57S	A	+	1	0	MAPK1IP1L	54599239	1.000000	0.71417	1.000000	0.80357	0.411000	0.31082	3.073000	0.50057	2.768000	0.95171	0.650000	0.86243	GCA		0.582	MAPK1IP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411302.2	NM_144578		19	47	1	0	1.96292e-10	1	2.4525e-10	19	47				
NOTCH3	4854	broad.mit.edu	37	19	15295220	15295220	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:15295220C>A	ENST00000263388.2	-	16	2527	c.2452G>T	c.(2452-2454)Gca>Tca	p.A818S		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	818	EGF-like 21; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.A818S(2)		breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CCACAGGGTGCGGGGCCAGCA	0.612																																						ENST00000263388.2																			2	Substitution - Missense(2)	p.A818S(2)	lung(2)	breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(2452-2454)Gca>Tca		notch 3							74.0	62.0	66.0					19																	15295220		2203	4300	6503	SO:0001583	missense	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15295220C>A	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.2452G>T	19.37:g.15295220C>A	ENSP00000263388:p.Ala818Ser						p.A818S	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		16	2527	-			818			EGF-like 21; calcium-binding (Potential).		Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	c.2452G>T	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.716159	0.00706	.	.	ENSG00000074181	ENST00000263388	T	0.66280	-0.2	4.66	-2.39	0.06602	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.350163	0.16457	N	0.213574	T	0.18130	0.0435	N	0.00510	-1.415	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.39522	-0.9610	10	0.02654	T	1	.	5.6489	0.17604	0.2715:0.4284:0.0:0.3001	.	818	Q9UM47	NOTC3_HUMAN	S	818	ENSP00000263388:A818S	ENSP00000263388:A818S	A	-	1	0	NOTCH3	15156220	0.876000	0.30132	0.381000	0.26106	0.269000	0.26545	0.971000	0.29396	-0.304000	0.08843	-1.433000	0.01084	GCA		0.612	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		16	40	1	0	3.99206e-14	1	5.23403e-14	16	40				
SCN10A	6336	broad.mit.edu	37	3	38805036	38805036	+	Silent	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr3:38805036G>A	ENST00000449082.2	-	5	650	c.651C>T	c.(649-651)ttC>ttT	p.F217F		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	217					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	TAAGAACTCTGAATGTCCGCA	0.458																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(649-651)ttC>ttT		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						159.0	154.0	155.0					3																	38805036		2203	4300	6503	SO:0001819	synonymous_variant	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38805036G>A	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.651C>T	3.37:g.38805036G>A							p.F217F	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	5	650	-			217					A6NDQ1	Silent	SNP	ENST00000449082.2	37	c.651C>T	CCDS33736.1																																																																																				0.458	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		30	19	0	0	0	1	0	30	19				
PTN	5764	broad.mit.edu	37	7	136938242	136938242	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:136938242C>A	ENST00000348225.2	-	3	685	c.258G>T	c.(256-258)aaG>aaT	p.K86N	PTN_ENST00000393083.2_Missense_Mutation_p.K86N	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN	pleiotrophin	86					bone mineralization (GO:0030282)|learning (GO:0007612)|negative regulation of catalytic activity (GO:0043086)|nervous system development (GO:0007399)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)	heparin binding (GO:0008201)|protein phosphatase inhibitor activity (GO:0004864)	p.K86N(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						TGCAGGGGATCTTACATCTCT	0.502																																						ENST00000348225.2																			2	Substitution - Missense(2)	p.K86N(2)	lung(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						c.(256-258)aaG>aaT		pleiotrophin							151.0	127.0	135.0					7																	136938242		2203	4300	6503	SO:0001583	missense	5764				nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity	g.chr7:136938242C>A	M57399	CCDS5844.1	7q33	2014-01-30	2008-07-31		ENSG00000105894	ENSG00000105894		"""Endogenous ligands"""	9630	protein-coding gene	gene with protein product	"""heparin binding growth factor 8"""	162095	"""neurite growth-promoting factor 1"""	NEGF1		1457401, 1768439	Standard	NM_002825		Approved	HBNF, HBGF8	uc003vtq.2	P21246	OTTHUMG00000155709	ENST00000348225.2:c.258G>T	7.37:g.136938242C>A	ENSP00000341170:p.Lys86Asn					PTN_ENST00000393083.2_Missense_Mutation_p.K86N	p.K86N	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN			3	685	-			86					Q5U0B0|Q6ICQ5|Q9UCC6	Missense_Mutation	SNP	ENST00000348225.2	37	c.258G>T	CCDS5844.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388753	0.82902	.	.	ENSG00000105894	ENST00000348225;ENST00000393083	.	.	.	5.65	5.65	0.86999	Midkine heparin-binding growth factor, N-terminal (3);Midkine heparin-binding growth factor, conserved site (1);Midkine heparin-binding growth factor, disulphide-rich domain (1);	0.042575	0.85682	D	0.000000	T	0.75199	0.3817	L	0.46157	1.445	0.58432	D	0.999993	D;D	0.76494	0.999;0.998	D;D	0.72982	0.979;0.945	T	0.74694	-0.3579	9	0.52906	T	0.07	-16.9889	19.733	0.96192	0.0:1.0:0.0:0.0	.	86;86	C9JR52;P21246	.;PTN_HUMAN	N	86	.	ENSP00000341170:K86N	K	-	3	2	PTN	136588782	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.850000	0.55918	2.665000	0.90641	0.585000	0.79938	AAG		0.502	PTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341339.1	NM_002825		23	12	1	0	9.39395e-14	1	1.22259e-13	23	12				
RAB11FIP4	84440	broad.mit.edu	37	17	29844670	29844670	+	Splice_Site	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:29844670G>T	ENST00000325874.8	+	4	567	c.338G>T	c.(337-339)gGc>gTc	p.G113V	RN7SL45P_ENST00000578050.1_RNA|RAB11FIP4_ENST00000394744.2_Splice_Site_p.G11V	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	113	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis (GO:0000910)|transport (GO:0006810)|viral process (GO:0016032)	cleavage furrow (GO:0032154)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|midbody (GO:0030496)|recycling endosome membrane (GO:0055038)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				CTTTCCCAGGGCAGCGAGGTC	0.597																																						ENST00000325874.8																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.e4-1		RAB11 family interacting protein 4 (class II)							23.0	19.0	21.0					17																	29844670		2200	4300	6500	SO:0001630	splice_region_variant	84440				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	g.chr17:29844670G>T	AB058724	CCDS11267.1	17q11.2	2013-01-10			ENSG00000131242	ENSG00000131242		"""EF-hand domain containing"""	30267	protein-coding gene	gene with protein product		611999				11347906, 11468690	Standard	NM_032932		Approved	RAB11-FIP4, KIAA1821, MGC11316, FLJ00131	uc002hgn.1	Q86YS3	OTTHUMG00000132787	ENST00000325874.8:c.337-1G>T	17.37:g.29844670G>T						RAB11FIP4_ENST00000394744.2_Splice_Site_p.G11_splice	p.G113_splice	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN			4	567	+		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)	113			Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.		Q52LI1|Q8N829|Q8NDT7|Q969D8	Splice_Site	SNP	ENST00000325874.8	37	c.336_splice	CCDS11267.1	.	.	.	.	.	.	.	.	.	.	G	5.061	0.196976	0.09599	.	.	ENSG00000131242	ENST00000325874;ENST00000394744	.	.	.	5.32	2.25	0.28309	.	0.456306	0.25405	N	0.030901	T	0.26484	0.0647	N	0.22421	0.69	0.58432	D	0.999998	B;P	0.38250	0.034;0.624	B;B	0.32864	0.022;0.154	T	0.02933	-1.1092	8	.	.	.	-25.1131	7.5919	0.28025	0.251:0.0:0.749:0.0	.	11;113	Q86YS3-2;Q86YS3	.;RFIP4_HUMAN	V	113	.	.	G	+	2	0	RAB11FIP4	26868790	0.998000	0.40836	0.970000	0.41538	0.237000	0.25408	1.218000	0.32467	0.251000	0.21505	0.505000	0.49811	GGC		0.597	RAB11FIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256195.2	NM_032932	Missense_Mutation	3	9	1	0	0.00909568	1	0.00954507	3	9				
CCDC50	152137	broad.mit.edu	37	3	191074882	191074882	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr3:191074882C>G	ENST00000392455.3	+	2	653	c.55C>G	c.(55-57)Cga>Gga	p.R19G	CCDC50_ENST00000392456.3_Missense_Mutation_p.R19G	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	19						cytoplasm (GO:0005737)	ubiquitin protein ligase binding (GO:0031625)	p.R19G(2)		endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		TCTAGTATGCCGAGATTTTGC	0.378																																						ENST00000392455.3																			2	Substitution - Missense(2)	p.R19G(2)	lung(1)|endometrium(1)	endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23						c.(55-57)Cga>Gga		coiled-coil domain containing 50							139.0	133.0	135.0					3																	191074882		2203	4300	6503	SO:0001583	missense	152137					cytoplasm	protein binding	g.chr3:191074882C>G	AJ416916	CCDS33912.1, CCDS33913.1	3q28	2010-12-24		2005-12-23	ENSG00000152492	ENSG00000152492			18111	protein-coding gene	gene with protein product		611051	"""deafness, autosomal dominant 44"""	C3orf6, DFNA44		16803894, 17503326	Standard	NM_178335		Approved	Ymer	uc003fsv.3	Q8IVM0	OTTHUMG00000156177	ENST00000392455.3:c.55C>G	3.37:g.191074882C>G	ENSP00000376249:p.Arg19Gly					CCDC50_ENST00000392456.3_Missense_Mutation_p.R19G	p.R19G	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)	2	653	+	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		19					Q86VH7	Missense_Mutation	SNP	ENST00000392455.3	37	c.55C>G	CCDS33913.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.441512	0.43326	.	.	ENSG00000152492	ENST00000392455;ENST00000392456	T;T	0.48836	0.8;0.8	5.56	3.7	0.42460	.	0.065995	0.64402	D	0.000010	T	0.62696	0.2449	L	0.56769	1.78	0.42234	D	0.991908	D;D	0.89917	1.0;0.998	D;D	0.79784	0.993;0.961	T	0.64394	-0.6418	10	0.87932	D	0	.	11.8995	0.52675	0.4903:0.5097:0.0:0.0	.	19;19	Q8IVM0;Q8IVM0-2	CCD50_HUMAN;.	G	19	ENSP00000376249:R19G;ENSP00000376250:R19G	ENSP00000376249:R19G	R	+	1	2	CCDC50	192557576	1.000000	0.71417	0.999000	0.59377	0.440000	0.31957	1.688000	0.37690	0.643000	0.30638	0.591000	0.81541	CGA		0.378	CCDC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343315.1	NM_174908		14	16	0	0	0	1	0	14	16				
TCL1B	9623	broad.mit.edu	37	14	96152827	96152827	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr14:96152827G>T	ENST00000340722.7	+	1	74	c.23G>T	c.(22-24)cGt>cTt	p.R8L	RP11-1070N10.6_ENST00000461160.1_RNA	NM_004918.3	NP_004909.1	O95988	TCL1B_HUMAN	T-cell leukemia/lymphoma 1B	8										cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		GCTTCTGTGCGTCTAGGGGTG	0.602																																						ENST00000340722.7																			0				cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(22-24)cGt>cTt		T-cell leukemia/lymphoma 1B							97.0	100.0	99.0					14																	96152827		2203	4300	6503	SO:0001583	missense	9623							g.chr14:96152827G>T	AB018563	CCDS32151.1	14q32.1	2008-09-05			ENSG00000213231	ENSG00000213231			11649	protein-coding gene	gene with protein product		603769				10077617	Standard	NM_004918		Approved	TML1	uc001yez.3	O95988	OTTHUMG00000028912	ENST00000340722.7:c.23G>T	14.37:g.96152827G>T	ENSP00000343223:p.Arg8Leu					RP11-1070N10.6_ENST00000461160.1_RNA	p.R8L	NM_004918.3	NP_004909.1	O95988	TCL1B_HUMAN		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)	1	74	+		all_cancers(154;0.103)	8					A6NEK7|Q6IAR7|Q9UBQ4	Missense_Mutation	SNP	ENST00000340722.7	37	c.23G>T	CCDS32151.1	.	.	.	.	.	.	.	.	.	.	G	6.716	0.500752	0.12822	.	.	ENSG00000213231	ENST00000340722;ENST00000538038	T	0.29655	1.56	2.78	-2.54	0.06307	.	.	.	.	.	T	0.14614	0.0353	N	0.22421	0.69	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.24693	-1.0153	9	0.29301	T	0.29	.	1.5818	0.02636	0.1325:0.3682:0.2685:0.2309	.	8	O95988	TCL1B_HUMAN	L	8	ENSP00000343223:R8L	ENSP00000343223:R8L	R	+	2	0	TCL1B	95222580	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.221000	0.01216	-0.579000	0.05952	-0.463000	0.05309	CGT		0.602	TCL1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315123.2			17	106	1	0	5.35267e-07	1	6.17884e-07	17	106				
NPAP1	23742	broad.mit.edu	37	15	24924386	24924386	+	Silent	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr15:24924386G>C	ENST00000329468.2	+	1	3846	c.3372G>C	c.(3370-3372)ctG>ctC	p.L1124L		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	1124					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											AGTGCATCCTGCAGCACACAT	0.473																																						ENST00000329468.2																			0											c.(3370-3372)ctG>ctC		nuclear pore associated protein 1							136.0	117.0	124.0					15																	24924386		2203	4300	6503	SO:0001819	synonymous_variant	23742							g.chr15:24924386G>C	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.3372G>C	15.37:g.24924386G>C							p.L1124L	NM_018958.2	NP_061831.2					1	3846	+									Silent	SNP	ENST00000329468.2	37	c.3372G>C	CCDS10015.1																																																																																				0.473	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		13	78	0	0	0	1	0	13	78				
EFCAB3	146779	broad.mit.edu	37	17	60493471	60493471	+	Silent	SNP	T	T	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr17:60493471T>C	ENST00000305286.3	+	10	1176	c.1098T>C	c.(1096-1098)tcT>tcC	p.S366S	EFCAB3_ENST00000450662.2_Silent_p.S418S	NM_173503.3	NP_775774.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	366							calcium ion binding (GO:0005509)			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			GGATGGACTCTAGAAATGAGT	0.403																																						ENST00000450662.2																			0				cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17						c.(1252-1254)tcT>tcC		EF-hand calcium binding domain 3							112.0	114.0	113.0					17																	60493471		2203	4300	6503	SO:0001819	synonymous_variant	146779						calcium ion binding	g.chr17:60493471T>C	AK098684	CCDS11632.1, CCDS45751.1	17q23.3	2013-01-10			ENSG00000172421	ENSG00000172421		"""EF-hand domain containing"""	26379	protein-coding gene	gene with protein product						12477932	Standard	NM_173503		Approved	FLJ25818	uc010wpc.2	Q8N7B9	OTTHUMG00000179175	ENST00000305286.3:c.1098T>C	17.37:g.60493471T>C						EFCAB3_ENST00000305286.3_Silent_p.S366S	p.S418S	NM_001144933.1	NP_001138405.1	Q8N7B9	EFCB3_HUMAN	BRCA - Breast invasive adenocarcinoma(2;2.27e-11)		12	1325	+			366					J3KQM8	Silent	SNP	ENST00000305286.3	37	c.1254T>C	CCDS11632.1																																																																																				0.403	EFCAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379114.1	NM_173503		28	39	0	0	0	1	0	28	39				
ATP10D	57205	broad.mit.edu	37	4	47548772	47548772	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:47548772G>C	ENST00000273859.3	+	10	1797	c.1528G>C	c.(1528-1530)Gga>Cga	p.G510R	ATP10D_ENST00000504445.1_Missense_Mutation_p.G495R	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	510					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|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(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TGGGCCTTTGGGAAATAAGCC	0.483																																						ENST00000273859.3																			0				NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						c.(1528-1530)Gga>Cga		ATPase, class V, type 10D							99.0	104.0	102.0					4																	47548772		2203	4300	6503	SO:0001583	missense	57205				ATP biosynthetic process|cation transport	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.chr4:47548772G>C	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.1528G>C	4.37:g.47548772G>C	ENSP00000273859:p.Gly510Arg					ATP10D_ENST00000504445.1_Missense_Mutation_p.G495R	p.G510R	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN			10	1797	+			510					A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	c.1528G>C	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	G	5.467	0.271142	0.10349	.	.	ENSG00000145246	ENST00000273859;ENST00000504445	T;T	0.36878	1.23;4.09	4.85	3.92	0.45320	HAD-like domain (1);	0.260052	0.38326	N	0.001726	T	0.15089	0.0364	N	0.11313	0.125	0.27085	N	0.962998	B;B	0.14012	0.009;0.002	B;B	0.11329	0.006;0.003	T	0.16158	-1.0412	10	0.13853	T	0.58	-6.9954	4.4855	0.11788	0.2716:0.0:0.7284:0.0	.	510;495	Q9P241;Q6PEW3	AT10D_HUMAN;.	R	510;495	ENSP00000273859:G510R;ENSP00000420909:G495R	ENSP00000273859:G510R	G	+	1	0	ATP10D	47243529	1.000000	0.71417	0.680000	0.29994	0.127000	0.20565	1.978000	0.40598	2.533000	0.85409	0.491000	0.48974	GGA		0.483	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		24	35	0	0	0	1	0	24	35				
RYR2	6262	broad.mit.edu	37	1	237659936	237659936	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:237659936G>T	ENST00000366574.2	+	20	2404	c.2087G>T	c.(2086-2088)gGc>gTc	p.G696V	RYR2_ENST00000360064.6_Missense_Mutation_p.G694V|RYR2_ENST00000542537.1_Missense_Mutation_p.G680V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	696	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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)			CTGCGAGTGGGCTGGGCTTCC	0.507																																						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.(2086-2088)gGc>gTc		ryanodine receptor 2 (cardiac)							104.0	110.0	108.0					1																	237659936		1943	4143	6086	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.chr1:237659936G>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.2087G>T	1.37:g.237659936G>T	ENSP00000355533:p.Gly696Val					RYR2_ENST00000360064.6_Missense_Mutation_p.G694V|RYR2_ENST00000542537.1_Missense_Mutation_p.G680V	p.G696V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		20	2404	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	696			B30.2/SPRY 1.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.2087G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	31	5.063683	0.93898	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.99201	-5.55;-5.55;-5.55	5.98	5.98	0.97165	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000004	D	0.99609	0.9858	H	0.97103	3.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97957	1.0335	10	0.87932	D	0	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	696	Q92736	RYR2_HUMAN	V	696;694;680	ENSP00000355533:G696V;ENSP00000353174:G694V;ENSP00000443798:G680V	ENSP00000353174:G694V	G	+	2	0	RYR2	235726559	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.813000	0.99286	2.835000	0.97688	0.650000	0.86243	GGC		0.507	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		30	26	1	0	7.01153e-11	1	8.84353e-11	30	26				
ZNF846	162993	broad.mit.edu	37	19	9868423	9868423	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:9868423G>A	ENST00000397902.2	-	6	1743	c.1330C>T	c.(1330-1332)Cac>Tac	p.H444Y	ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000588267.1_Intron	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	444					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H444D(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						TCTCCAGTGTGAGTTCTTAAA	0.438																																						ENST00000397902.2																			1	Substitution - Missense(1)	p.H444D(1)	cervix(1)	NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						c.(1330-1332)Cac>Tac		zinc finger protein 846							81.0	92.0	88.0					19																	9868423		2143	4282	6425	SO:0001583	missense	162993				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9868423G>A	AK097652	CCDS42496.1	19p13.2	2013-01-08			ENSG00000196605	ENSG00000196605		"""Zinc fingers, C2H2-type"", ""-"""	27260	protein-coding gene	gene with protein product							Standard	NM_001077624		Approved		uc002mmb.1	Q147U1		ENST00000397902.2:c.1330C>T	19.37:g.9868423G>A	ENSP00000380999:p.His444Tyr					ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000588267.1_Intron	p.H444Y	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN			6	1743	-			444					A8K0H1|B3KUP1	Missense_Mutation	SNP	ENST00000397902.2	37	c.1330C>T	CCDS42496.1	.	.	.	.	.	.	.	.	.	.	.	18.94	3.729131	0.69074	.	.	ENSG00000196605	ENST00000397902	T	0.67523	-0.27	2.04	2.04	0.26737	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.83769	0.5326	M	0.92784	3.345	0.29409	N	0.861343	D	0.89917	1.0	D	0.87578	0.998	T	0.76688	-0.2867	8	.	.	.	.	10.1856	0.42995	0.0:0.0:1.0:0.0	.	444	Q147U1	ZN846_HUMAN	Y	444	ENSP00000380999:H444Y	.	H	-	1	0	ZNF846	9729423	1.000000	0.71417	0.514000	0.27761	0.296000	0.27459	6.106000	0.71511	1.468000	0.48064	0.555000	0.69702	CAC		0.438	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450253.1	NM_001077624		19	24	0	0	0	1	0	19	24				
ADAM20	8748	broad.mit.edu	37	14	70989856	70989856	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr14:70989856C>A	ENST00000256389.3	-	2	2013	c.1769G>T	c.(1768-1770)cGt>cTt	p.R590L	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	540	Cys-rich.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		GTGACCGAAACGGTTTCCTTG	0.423																																						ENST00000256389.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27						c.(1768-1770)cGt>cTt		ADAM metallopeptidase domain 20							163.0	113.0	130.0					14																	70989856		2203	4300	6503	SO:0001583	missense	8748				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70989856C>A	AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"""ADAM metallopeptidase domain containing"""	199	protein-coding gene	gene with protein product		603712	"""a disintegrin and metalloproteinase domain 20"""			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.1769G>T	14.37:g.70989856C>A	ENSP00000256389:p.Arg590Leu					RP11-486O13.4_ENST00000556646.1_lincRNA	p.R590L	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)	2	2013	-			540			Cys-rich.		Q6GTZ1|Q9UKJ9	Missense_Mutation	SNP	ENST00000256389.3	37	c.1769G>T	CCDS32111.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.657298	0.67586	.	.	ENSG00000134007	ENST00000256389	T	0.24350	1.86	4.66	4.66	0.58398	ADAM, cysteine-rich (2);	0.000000	0.35615	N	0.003086	T	0.56411	0.1983	M	0.91300	3.195	0.28124	N	0.930478	P	0.48089	0.905	P	0.58873	0.847	T	0.60806	-0.7190	10	0.87932	D	0	.	16.0962	0.81127	0.0:1.0:0.0:0.0	.	540	O43506	ADA20_HUMAN	L	590	ENSP00000256389:R590L	ENSP00000256389:R590L	R	-	2	0	ADAM20	70059609	0.756000	0.28383	0.964000	0.40570	0.468000	0.32798	1.872000	0.39549	2.284000	0.76573	0.557000	0.71058	CGT		0.423	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2			42	40	1	0	2.6416e-12	1	3.39634e-12	42	40				
TPR	7175	broad.mit.edu	37	1	186302298	186302298	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:186302298G>A	ENST00000367478.4	-	37	5707	c.5411C>T	c.(5410-5412)tCa>tTa	p.S1804L		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1804					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CTCAACTGGTGAACTCTGAAC	0.408			T	NTRK1	papillary thyroid																																	ENST00000367478.3				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123						c.(5410-5412)tCa>tTa		translocated promoter region, nuclear basket protein							91.0	84.0	86.0					1																	186302298		1877	4111	5988	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186302298G>A	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.5411C>T	1.37:g.186302298G>A	ENSP00000356448:p.Ser1804Leu						p.S1804L	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	37	5707	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	1804					Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.5411C>T	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921832	0.73213	.	.	ENSG00000047410	ENST00000367478	T	0.26067	1.76	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.28366	0.0701	L	0.56769	1.78	0.80722	D	1	P	0.34864	0.473	B	0.28553	0.091	T	0.13953	-1.0490	10	0.66056	D	0.02	.	18.5873	0.91194	0.0:0.0:1.0:0.0	.	1804	P12270	TPR_HUMAN	L	1804	ENSP00000356448:S1804L	ENSP00000356448:S1804L	S	-	2	0	TPR	184568921	1.000000	0.71417	0.988000	0.46212	0.996000	0.88848	9.012000	0.93624	2.403000	0.81681	0.644000	0.83932	TCA		0.408	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		10	27	0	0	0	1	0	10	27				
DPY19L1	23333	broad.mit.edu	37	7	35009099	35009099	+	Silent	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:35009099G>T	ENST00000310974.4	-	9	885	c.741C>A	c.(739-741)tcC>tcA	p.S247S	DPY19L1_ENST00000462134.2_5'UTR	NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	247						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						AAAATACATTGGAAATGCAGA	0.348																																						ENST00000310974.4																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						c.(739-741)tcC>tcA		dpy-19-like 1 (C. elegans)							89.0	83.0	85.0					7																	35009099		1844	4098	5942	SO:0001819	synonymous_variant	23333					integral to membrane		g.chr7:35009099G>T	AB020684	CCDS43567.1	7p14.3-p14.2	2006-04-26			ENSG00000173852	ENSG00000173852			22205	protein-coding gene	gene with protein product		613892					Standard	NM_015283		Approved	KIAA0877	uc003tem.4	Q2PZI1	OTTHUMG00000154888	ENST00000310974.4:c.741C>A	7.37:g.35009099G>T						DPY19L1_ENST00000462134.2_5'UTR	p.S247S	NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN			9	885	-			247					O94954|Q4G151	Silent	SNP	ENST00000310974.4	37	c.741C>A	CCDS43567.1																																																																																				0.348	DPY19L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337506.1			18	21	1	0	4.96729e-08	1	5.8614e-08	18	21				
PKD1L1	168507	broad.mit.edu	37	7	47944861	47944861	+	Silent	SNP	A	A	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:47944861A>T	ENST00000289672.2	-	11	1634	c.1584T>A	c.(1582-1584)gcT>gcA	p.A528A		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	528	PKD 1. {ECO:0000255|PROSITE- ProRule:PRU00151}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CCTTGGTAACAGCTGTAAATG	0.418																																						ENST00000289672.2																		BBS9/PKD1L1(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.(1582-1584)gcT>gcA		polycystic kidney disease 1 like 1							148.0	134.0	139.0					7																	47944861		2203	4300	6503	SO:0001819	synonymous_variant	168507				cell-cell adhesion	integral to membrane		g.chr7:47944861A>T	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.1584T>A	7.37:g.47944861A>T							p.A528A	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			11	1634	-			528			PKD 1.		Q6UWK1	Silent	SNP	ENST00000289672.2	37	c.1584T>A	CCDS34633.1																																																																																				0.418	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		32	50	0	0	0	1	0	32	50				
SLIT2	9353	broad.mit.edu	37	4	20482397	20482397	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:20482397G>T	ENST00000504154.1	+	6	778	c.526G>T	c.(526-528)Gac>Tac	p.D176Y	SLIT2_ENST00000273739.5_Missense_Mutation_p.D176Y|SLIT2_ENST00000503823.1_Missense_Mutation_p.D176Y|SLIT2_ENST00000503837.1_Missense_Mutation_p.D176Y	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	176					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GGCTCTCCGGGACCTGGAAGT	0.438																																						ENST00000504154.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(526-528)Gac>Tac		slit homolog 2 (Drosophila)							160.0	155.0	157.0					4																	20482397		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20482397G>T	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.526G>T	4.37:g.20482397G>T	ENSP00000422591:p.Asp176Tyr					SLIT2_ENST00000503823.1_Missense_Mutation_p.D176Y|SLIT2_ENST00000273739.5_Missense_Mutation_p.D176Y|SLIT2_ENST00000503837.1_Missense_Mutation_p.D176Y	p.D176Y	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			6	778	+			176					B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.526G>T	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.240423	0.79912	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837;ENST00000508824	T;T;T;T;D	0.83419	0.39;0.39;0.39;0.39;-1.72	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.84506	0.5487	N	0.17474	0.49	0.80722	D	1	D;D	0.57571	0.98;0.971	P;P	0.62491	0.891;0.903	D	0.86541	0.1828	10	0.66056	D	0.02	.	19.9357	0.97140	0.0:0.0:1.0:0.0	.	176;176	O94813-3;O94813	.;SLIT2_HUMAN	Y	176;176;176;176;176;137	ENSP00000427548:D176Y;ENSP00000422591:D176Y;ENSP00000273739:D176Y;ENSP00000422261:D176Y;ENSP00000426356:D137Y	ENSP00000273739:D176Y	D	+	1	0	SLIT2	20091495	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.624000	0.98398	2.715000	0.92844	0.655000	0.94253	GAC		0.438	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			21	53	1	0	4.26978e-12	1	5.46326e-12	21	53				
KCNK6	9424	broad.mit.edu	37	19	38810813	38810813	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:38810813G>T	ENST00000263372.3	+	1	330	c.223G>T	c.(223-225)Gtc>Ttc	p.V75F		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	75					negative regulation of systemic arterial blood pressure (GO:0003085)|potassium ion transport (GO:0006813)|regulation of resting membrane potential (GO:0060075)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	GCTGGGGCGGGTCGTGCTTGC	0.716																																						ENST00000263372.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17						c.(223-225)Gtc>Ttc		potassium channel, subfamily K, member 6	Ibutilide(DB00308)|Quinidine(DB00908)						11.0	15.0	14.0					19																	38810813		2172	4260	6432	SO:0001583	missense	9424					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr19:38810813G>T	AF117708	CCDS12513.1	19q13.1	2012-03-07				ENSG00000099337		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6281	protein-coding gene	gene with protein product		603939				10075682, 10393428, 16382106	Standard	NM_004823		Approved	K2p6.1, TWIK-2	uc002oic.3	Q9Y257		ENST00000263372.3:c.223G>T	19.37:g.38810813G>T	ENSP00000263372:p.Val75Phe						p.V75F	NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		1	330	+	all_cancers(60;5.83e-07)		75					Q9HB47	Missense_Mutation	SNP	ENST00000263372.3	37	c.223G>T	CCDS12513.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.182688	0.38511	.	.	ENSG00000099337	ENST00000263372	T	0.23950	1.88	4.57	-2.44	0.06502	.	1.158440	0.06499	N	0.735978	T	0.09113	0.0225	N	0.08118	0	0.20196	N	0.999923	B	0.09022	0.002	B	0.15870	0.014	T	0.32508	-0.9904	10	0.10377	T	0.69	.	0.9749	0.01423	0.192:0.1321:0.2667:0.4092	.	75	Q9Y257	KCNK6_HUMAN	F	75	ENSP00000263372:V75F	ENSP00000263372:V75F	V	+	1	0	KCNK6	43502653	.	.	0.088000	0.20740	0.435000	0.31806	.	.	-0.089000	0.12484	-0.266000	0.10368	GTC		0.716	KCNK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460524.1	NM_004823		9	18	1	0	1.12685e-05	1	1.25705e-05	9	18				
PRB1	5542	broad.mit.edu	37	12	11506728	11506728	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:11506728T>A	ENST00000500254.2	-	3	346	c.309A>T	c.(307-309)caA>caT	p.Q103H	PRB1_ENST00000546254.1_Missense_Mutation_p.Q103H|PRB1_ENST00000545626.1_Missense_Mutation_p.Q103H	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	42	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).			extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGTTACCTCCTTGTGGGGGTG	0.622																																						ENST00000500254.2																			0				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(307-309)caA>caT		proline-rich protein BstNI subfamily 1							174.0	217.0	202.0					12																	11506728		2160	4273	6433	SO:0001583	missense	5542					extracellular region		g.chr12:11506728T>A		CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.309A>T	12.37:g.11506728T>A	ENSP00000420826:p.Gln103His					PRB1_ENST00000545626.1_Missense_Mutation_p.Q103H|PRB1_ENST00000546254.1_Missense_Mutation_p.Q103H	p.Q103H	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	346	-			286		Missing (in allele M).	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Missense_Mutation	SNP	ENST00000500254.2	37	c.309A>T	CCDS8642.1	.	.	.	.	.	.	.	.	.	.	.	1.860	-0.462809	0.04476	.	.	ENSG00000251655	ENST00000545626;ENST00000500254;ENST00000546254	T;T;T	0.06849	3.27;3.25;3.25	1.56	0.38	0.16222	.	.	.	.	.	T	0.11623	0.0283	M	0.67397	2.05	0.09310	N	1	D;D;D	0.58268	0.982;0.982;0.982	P;P;P	0.52514	0.701;0.701;0.701	T	0.19976	-1.0289	9	0.13853	T	0.58	.	1.6311	0.02732	0.2945:0.1938:0.0:0.5117	.	110;103;103	Q86YA1;G3V1R1;G3V1M9	.;.;.	H	103	ENSP00000444249:Q103H;ENSP00000420826:Q103H;ENSP00000442127:Q103H	ENSP00000420826:Q103H	Q	-	3	2	PRB1	11397995	0.010000	0.17322	0.005000	0.12908	0.005000	0.04900	0.340000	0.19892	0.106000	0.17784	-0.548000	0.04221	CAA		0.622	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1	NM_005039		45	726	0	0	0	1	0	45	726				
STAB2	55576	broad.mit.edu	37	12	104054501	104054501	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:104054501G>T	ENST00000388887.2	+	17	2033	c.1829G>T	c.(1828-1830)aGc>aTc	p.S610I	RP11-341G23.2_ENST00000551905.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CACATCAGGAGCATGGCCAAC	0.478																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(1828-1830)aGc>aTc		stabilin 2							214.0	177.0	190.0					12																	104054501		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104054501G>T	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.1829G>T	12.37:g.104054501G>T	ENSP00000373539:p.Ser610Ile						p.S610I	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			17	2033	+			610			FAS1 2.			Missense_Mutation	SNP	ENST00000388887.2	37	c.1829G>T	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.226198	0.58668	.	.	ENSG00000136011	ENST00000388887	D	0.92545	-3.06	5.63	1.21	0.21127	FAS1 domain (5);	0.297573	0.35870	N	0.002931	D	0.93654	0.7973	M	0.78801	2.425	0.34227	D	0.676046	P	0.51147	0.942	P	0.49047	0.599	D	0.95992	0.8986	10	0.87932	D	0	.	19.3586	0.94425	0.0:0.5105:0.4895:0.0	.	610	Q8WWQ8	STAB2_HUMAN	I	610	ENSP00000373539:S610I	ENSP00000373539:S610I	S	+	2	0	STAB2	102578631	0.955000	0.32602	0.989000	0.46669	0.671000	0.39405	-0.139000	0.10358	0.277000	0.22141	0.655000	0.94253	AGC		0.478	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			21	38	1	0	2.52088e-20	1	3.51335e-20	21	38				
APBA1	320	broad.mit.edu	37	9	72131021	72131021	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:72131021T>C	ENST00000265381.4	-	2	1328	c.1106A>G	c.(1105-1107)tAc>tGc	p.Y369C		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	369	Pro-rich.				axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GTCGGGGGTGTAAGGCGAACG	0.597																																						ENST00000265381.4																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						c.(1105-1107)tAc>tGc		amyloid beta (A4) precursor protein-binding, family A, member 1							143.0	111.0	122.0					9																	72131021		2203	4300	6503	SO:0001583	missense	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72131021T>C	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.1106A>G	9.37:g.72131021T>C	ENSP00000265381:p.Tyr369Cys						p.Y369C	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN			2	1328	-			369			Pro-rich.		O14914|O60570|Q5VYR8	Missense_Mutation	SNP	ENST00000265381.4	37	c.1106A>G	CCDS6630.1	.	.	.	.	.	.	.	.	.	.	T	18.22	3.576318	0.65878	.	.	ENSG00000107282	ENST00000265381	T	0.06768	3.26	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.19927	0.0479	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.01298	-1.1392	10	0.38643	T	0.18	-13.0311	16.2453	0.82441	0.0:0.0:0.0:1.0	.	369	Q02410	APBA1_HUMAN	C	369	ENSP00000265381:Y369C	ENSP00000265381:Y369C	Y	-	2	0	APBA1	71320841	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.276000	0.72601	2.241000	0.73720	0.533000	0.62120	TAC		0.597	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		33	59	0	0	0	1	0	33	59				
CPEB4	80315	broad.mit.edu	37	5	173337529	173337529	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr5:173337529C>G	ENST00000265085.5	+	2	2583	c.1129C>G	c.(1129-1131)Cgc>Ggc	p.R377G	CPEB4_ENST00000334035.5_Missense_Mutation_p.R377G|CPEB4_ENST00000519835.1_Missense_Mutation_p.R377G|CPEB4_ENST00000522336.1_5'UTR|CPEB4_ENST00000520867.1_Missense_Mutation_p.R377G|CPEB4_ENST00000517880.1_5'UTR	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	377					cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TCTACAGGATCGCCCCAGGAC	0.368																																						ENST00000265085.5																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20						c.(1129-1131)Cgc>Ggc		cytoplasmic polyadenylation element binding protein 4							98.0	103.0	101.0					5																	173337529		2203	4300	6503	SO:0001583	missense	80315						nucleotide binding|RNA binding	g.chr5:173337529C>G	BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"""RNA binding motif (RRM) containing"""	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.1129C>G	5.37:g.173337529C>G	ENSP00000265085:p.Arg377Gly					CPEB4_ENST00000517880.1_5'UTR|CPEB4_ENST00000334035.5_Missense_Mutation_p.R377G|CPEB4_ENST00000522336.1_5'UTR|CPEB4_ENST00000520867.1_Missense_Mutation_p.R377G|CPEB4_ENST00000519835.1_Missense_Mutation_p.R377G	p.R377G	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	2583	+	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	377					B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Missense_Mutation	SNP	ENST00000265085.5	37	c.1129C>G	CCDS4390.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.0|27.0	4.787788|4.787788	0.90367|0.90367	.|.	.|.	ENSG00000113742|ENSG00000113742	ENST00000519152|ENST00000265085;ENST00000520867;ENST00000334035;ENST00000519835	.|T;T;T;T	.|0.61627	.|0.27;0.12;0.22;0.09	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.73063|0.73063	0.3539|0.3539	M|M	0.65498|0.65498	2.005|2.005	0.80722|0.80722	D|D	1|1	.|P;P;D;P	.|0.56746	.|0.896;0.937;0.977;0.955	.|P;P;P;P	.|0.57468	.|0.667;0.821;0.82;0.754	T|T	0.73711|0.73711	-0.3897|-0.3897	5|10	.|0.87932	.|D	.|0	-13.1041|-13.1041	20.6593|20.6593	0.99626|0.99626	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|377;377;377;377	.|B7ZLQ8;Q17RY0-2;E5RJM0;Q17RY0	.|.;.;.;CPEB4_HUMAN	M|G	62|377	.|ENSP00000265085:R377G;ENSP00000429092:R377G;ENSP00000334533:R377G;ENSP00000429048:R377G	.|ENSP00000265085:R377G	I|R	+|+	3|1	3|0	CPEB4|CPEB4	173270135|173270135	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	5.832000|5.832000	0.69337|0.69337	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	ATC|CGC		0.368	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	NM_030627		45	27	0	0	0	1	0	45	27				
ATOH1	474	broad.mit.edu	37	4	94750208	94750208	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:94750208G>C	ENST00000306011.3	+	1	167	c.131G>C	c.(130-132)aGa>aCa	p.R44T		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	44					auditory receptor cell fate determination (GO:0042668)|auditory receptor cell fate specification (GO:0042667)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|cerebral cortex development (GO:0021987)|inner ear morphogenesis (GO:0042472)|negative regulation of apoptotic process (GO:0043066)|neuron migration (GO:0001764)|positive regulation of auditory receptor cell differentiation (GO:0045609)|positive regulation of neuron differentiation (GO:0045666)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		TTGCAGGCGAGAGAGCATCCC	0.682																																						ENST00000306011.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(130-132)aGa>aCa		atonal homolog 1 (Drosophila)							33.0	34.0	34.0					4																	94750208		2203	4298	6501	SO:0001583	missense	474				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:94750208G>C	U61148	CCDS3638.1	4q22	2013-05-21			ENSG00000172238	ENSG00000172238		"""Basic helix-loop-helix proteins"""	797	protein-coding gene	gene with protein product		601461				8872459	Standard	NM_005172		Approved	HATH1, MATH-1, Math1, bHLHa14	uc003hta.1	Q92858	OTTHUMG00000130972	ENST00000306011.3:c.131G>C	4.37:g.94750208G>C	ENSP00000302216:p.Arg44Thr						p.R44T	NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)	1	167	+		Hepatocellular(203;0.114)	44					Q14CT9	Missense_Mutation	SNP	ENST00000306011.3	37	c.131G>C	CCDS3638.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659278	0.47467	.	.	ENSG00000172238	ENST00000306011	D	0.97480	-4.4	4.45	4.45	0.53987	.	0.436541	0.23351	N	0.049127	D	0.90328	0.6974	N	0.14661	0.345	0.32939	D	0.518162	P	0.43477	0.808	B	0.33121	0.158	D	0.92343	0.5883	10	0.66056	D	0.02	-8.6172	8.2688	0.31831	0.1056:0.0:0.8944:0.0	.	44	Q92858	ATOH1_HUMAN	T	44	ENSP00000302216:R44T	ENSP00000302216:R44T	R	+	2	0	ATOH1	94969231	0.977000	0.34250	0.713000	0.30519	0.367000	0.29736	3.247000	0.51422	2.295000	0.77249	0.579000	0.79373	AGA		0.682	ATOH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253585.1	NM_005172		8	39	0	0	0	1	0	8	39				
TG	7038	broad.mit.edu	37	8	133911137	133911137	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr8:133911137C>A	ENST00000220616.4	+	14	3352	c.3312C>A	c.(3310-3312)ttC>ttA	p.F1104L	TG_ENST00000377869.1_Missense_Mutation_p.F1104L	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1104	Thyroglobulin type-1 9. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.F1104F(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AAGACCTGTTCGTCCCAGCCT	0.517																																						ENST00000220616.4																			1	Substitution - coding silent(1)	p.F1104F(1)	large_intestine(1)	NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(3310-3312)ttC>ttA		thyroglobulin							62.0	52.0	55.0					8																	133911137		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133911137C>A	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.3312C>A	8.37:g.133911137C>A	ENSP00000220616:p.Phe1104Leu					TG_ENST00000377869.1_Missense_Mutation_p.F1104L	p.F1104L	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	14	3352	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1104			Thyroglobulin type-1 9.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.3312C>A	CCDS34944.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	20.9|20.9|20.9	4.060076|4.060076|4.060076	0.76074|0.76074|0.76074	.|.|.	.|.|.	ENSG00000042832|ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000220616|ENST00000543313|ENST00000518505	T;T|.|.	0.67171|.|.	-0.25;-0.25|.|.	5.74|5.74|5.74	4.86|4.86|4.86	0.63082|0.63082|0.63082	Thyroglobulin type-1 (5);|.|.	0.000000|.|.	0.64402|.|.	D|.|.	0.000002|.|.	T|T|.	0.55878|0.55878|.	0.1948|0.1948|.	M|M|M	0.72894|0.72894|0.72894	2.215|2.215|2.215	0.31324|0.31324|0.31324	N|N|N	0.685645|0.685645|0.685645	D|.|.	0.55385|.|.	0.971|.|.	P|.|.	0.56916|.|.	0.809|.|.	T|T|.	0.62324|0.62324|.	-0.6878|-0.6878|.	10|5|.	0.33940|.|.	T|.|.	0.23|.|.	.|.|.	9.2938|9.2938|9.2938	0.37802|0.37802|0.37802	0.0:0.8342:0.0:0.1658|0.0:0.8342:0.0:0.1658|0.0:0.8342:0.0:0.1658	.|.|.	1104|.|.	P01266|.|.	THYG_HUMAN|.|.	L|S|X	1104|12|71	ENSP00000367100:F1104L;ENSP00000220616:F1104L|.|.	ENSP00000220616:F1104L|.|.	F|R|S	+|+|+	3|1|2	2|0|0	TG|TG|TG	133980319|133980319|133980319	0.956000|0.956000|0.956000	0.32656|0.32656|0.32656	0.972000|0.972000|0.972000	0.41901|0.41901|0.41901	0.815000|0.815000|0.815000	0.46073|0.46073|0.46073	0.916000|0.916000|0.916000	0.28651|0.28651|0.28651	1.394000|1.394000|1.394000	0.46624|0.46624|0.46624	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	TTC|CGT|TCG		0.517	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		11	29	1	0	1.08611e-07	1	1.27312e-07	11	29				
VCAN	1462	broad.mit.edu	37	5	82789364	82789364	+	Splice_Site	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr5:82789364G>A	ENST00000265077.3	+	4	1010		c.e4-1		VCAN_ENST00000512590.2_Splice_Site|VCAN_ENST00000343200.5_Splice_Site|VCAN_ENST00000513984.1_Splice_Site|VCAN_ENST00000502527.2_Splice_Site|VCAN_ENST00000342785.4_Splice_Site	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican						carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TGTTTTTGCAGGGGTTGTGTT	0.463																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.e4-1		versican							77.0	71.0	73.0					5																	82789364		2203	4300	6503	SO:0001630	splice_region_variant	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82789364G>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.446-1G>A	5.37:g.82789364G>A						VCAN_ENST00000512590.2_Splice_Site|VCAN_ENST00000513984.1_Splice_Site|VCAN_ENST00000502527.2_Splice_Site|VCAN_ENST00000343200.5_Splice_Site|VCAN_ENST00000342785.4_Splice_Site		NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	4	1010	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)						P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Splice_Site	SNP	ENST00000265077.3	37		CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.230256	0.79688	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000513960;ENST00000513984;ENST00000502527	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3754	0.98918	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VCAN	82825120	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	9.813000	0.99286	2.894000	0.99253	0.591000	0.81541	.		0.463	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385	Intron	23	13	0	0	0	1	0	23	13				
PROKR2	128674	broad.mit.edu	37	20	5294737	5294737	+	Silent	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr20:5294737G>T	ENST00000217270.3	-	1	278	c.279C>A	c.(277-279)gcC>gcA	p.A93A	PROKR2_ENST00000546004.1_Silent_p.A93A	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	93					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						TGGCCAGGTTGGCAATGAGCA	0.572										HNSCC(71;0.22)																												ENST00000546004.1																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						c.(277-279)gcC>gcA		prokineticin receptor 2							185.0	143.0	157.0					20																	5294737		2203	4300	6503	SO:0001819	synonymous_variant	128674					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr20:5294737G>T	AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"""GPCR / Class A : Prokineticin receptors"""	15836	protein-coding gene	gene with protein product		607123	"""G protein-coupled receptor 73-like 1"", ""Kallmann syndrome 3 (autosomal dominant)"""	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.279C>A	20.37:g.5294737G>T		HNSCC(71;0.22)				PROKR2_ENST00000217270.3_Silent_p.A93A	p.A93A			Q8NFJ6	PKR2_HUMAN			2	525	-			93					A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Silent	SNP	ENST00000217270.3	37	c.279C>A	CCDS13089.1																																																																																				0.572	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773		9	37	1	0	0.0581538	1	0.0597285	9	37				
ZMYND8	23613	broad.mit.edu	37	20	45927651	45927651	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr20:45927651G>A	ENST00000311275.7	-	4	468	c.215C>T	c.(214-216)cCa>cTa	p.P72L	ZMYND8_ENST00000396281.4_Intron|ZMYND8_ENST00000352431.2_Missense_Mutation_p.P92L|ZMYND8_ENST00000360911.3_Intron|ZMYND8_ENST00000468376.2_Intron|ZMYND8_ENST00000536340.1_Missense_Mutation_p.P99L|ZMYND8_ENST00000461685.1_Missense_Mutation_p.P92L|ZMYND8_ENST00000262975.4_Missense_Mutation_p.P72L|ZMYND8_ENST00000471951.2_Missense_Mutation_p.P92L|ZMYND8_ENST00000540497.1_Intron|ZMYND8_ENST00000372023.3_Intron|ZMYND8_ENST00000446994.2_Intron|ZMYND8_ENST00000355972.4_Missense_Mutation_p.P72L|ZMYND8_ENST00000458360.2_Intron	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	72					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TGTGGTGAGTGGCTGCTTCAT	0.453																																						ENST00000311275.7																			0				NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62						c.(214-216)cCa>cTa		zinc finger, MYND-type containing 8							133.0	129.0	130.0					20																	45927651		2203	4300	6503	SO:0001583	missense	23613						protein binding|zinc ion binding	g.chr20:45927651G>A	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.215C>T	20.37:g.45927651G>A	ENSP00000312237:p.Pro72Leu					ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000471951.2_Missense_Mutation_p.P92L|ZMYND8_ENST00000461685.1_Missense_Mutation_p.P92L|ZMYND8_ENST00000540497.1_Intron|ZMYND8_ENST00000468376.2_Intron|ZMYND8_ENST00000360911.3_Intron|ZMYND8_ENST00000396281.4_Intron|ZMYND8_ENST00000372023.3_Intron|ZMYND8_ENST00000262975.4_Missense_Mutation_p.P72L|ZMYND8_ENST00000352431.2_Missense_Mutation_p.P92L|ZMYND8_ENST00000446994.2_Intron|ZMYND8_ENST00000355972.4_Missense_Mutation_p.P72L|ZMYND8_ENST00000536340.1_Missense_Mutation_p.P99L	p.P72L			Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		4	468	-			72					B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	ENST00000311275.7	37	c.215C>T		.	.	.	.	.	.	.	.	.	.	G	29.9	5.041650	0.93685	.	.	ENSG00000101040	ENST00000311275;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000536340;ENST00000355972;ENST00000461685	T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0	6.11	6.11	0.99139	Zinc finger, FYVE/PHD-type (1);	0.054084	0.85682	D	0.000000	T	0.55641	0.1933	L	0.29908	0.895	0.80722	D	1	D;D;D;D;B;D;D;D	0.89917	1.0;0.999;0.997;0.999;0.079;0.999;1.0;1.0	D;D;D;D;B;D;D;D	0.91635	0.996;0.941;0.973;0.943;0.056;0.943;0.999;0.999	T	0.44205	-0.9343	9	.	.	.	-12.696	20.7342	0.99715	0.0:0.0:1.0:0.0	.	99;92;92;72;92;92;72;92	F5H0X3;Q569J9;Q9ULU4-7;Q9ULU4-9;Q9ULU4-12;Q9ULU4-13;Q9ULU4;Q9ULU4-8	.;.;.;.;.;.;PKCB1_HUMAN;.	L	72;72;92;92;99;72;92	ENSP00000312237:P72L;ENSP00000262975:P72L;ENSP00000420095:P92L;ENSP00000335537:P92L;ENSP00000439800:P99L;ENSP00000348246:P72L;ENSP00000418210:P92L	.	P	-	2	0	ZMYND8	45361058	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.906000	0.99361	0.655000	0.94253	CCA		0.453	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		20	35	0	0	0	1	0	20	35				
VTA1	51534	broad.mit.edu	37	6	142539729	142539729	+	Silent	SNP	T	T	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:142539729T>A	ENST00000367630.4	+	8	931	c.873T>A	c.(871-873)gcT>gcA	p.A291A	VTA1_ENST00000367621.1_Silent_p.A233A|VTA1_ENST00000452973.2_Silent_p.A206A	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	291	Interaction with VPS4B. {ECO:0000250}.				endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		TAAGCACTGCTGTCCAGAATC	0.443																																						ENST00000367630.4																			0				endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(871-873)gcT>gcA		vesicle (multivesicular body) trafficking 1							70.0	69.0	69.0					6																	142539729		2203	4299	6502	SO:0001819	synonymous_variant	51534				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding	g.chr6:142539729T>A	AF060225	CCDS5197.1, CCDS69214.1, CCDS75531.1	6q24.1	2013-08-05	2013-08-05	2007-04-03	ENSG00000009844	ENSG00000009844			20954	protein-coding gene	gene with protein product		610902	"""chromosome 6 open reading frame 55"", ""Vps20-associated 1 homolog (S. cerevisiae)"""	C6orf55		11489251, 15644320	Standard	NM_001286372		Approved	HSPC228, My012	uc003qiw.3	Q9NP79	OTTHUMG00000015707	ENST00000367630.4:c.873T>A	6.37:g.142539729T>A						VTA1_ENST00000452973.2_Silent_p.A206A|VTA1_ENST00000367621.1_Silent_p.A233A	p.A291A	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)	8	931	+	Breast(32;0.155)		291			Interaction with VPS4B (By similarity).		B4DW55|E1P594|E7ETQ7|Q5TGM1|Q6IAE8|Q9H0R2|Q9H3K9|Q9P0Q0	Silent	SNP	ENST00000367630.4	37	c.873T>A	CCDS5197.1																																																																																				0.443	VTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042483.2	NM_016485		20	35	0	0	0	1	0	20	35				
OR56A4	120793	broad.mit.edu	37	11	6023446	6023446	+	Silent	SNP	C	C	A	rs537464742		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:6023446C>A	ENST00000330728.4	-	1	978	c.933G>T	c.(931-933)ctG>ctT	p.L311L		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	259						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGACCAGAACCAGCAGGACTG	0.552													.|||	1	0.000199681	0.0	0.0	5008	,	,		20294	0.0		0.001	False		,,,				2504	0.0					ENST00000330728.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32						c.(931-933)ctG>ctT		olfactory receptor, family 56, subfamily A, member 4							80.0	72.0	75.0					11																	6023446		2201	4296	6497	SO:0001819	synonymous_variant	120793				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6023446C>A	BK004255	CCDS31404.1	11p15.4	2012-08-09			ENSG00000183389	ENSG00000183389		"""GPCR / Class A : Olfactory receptors"""	14791	protein-coding gene	gene with protein product							Standard	NM_001005179		Approved		uc010qzv.2	Q8NGH8	OTTHUMG00000165376	ENST00000330728.4:c.933G>T	11.37:g.6023446C>A							p.L311L	NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	978	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	259					B9EH17	Silent	SNP	ENST00000330728.4	37	c.933G>T	CCDS31404.1																																																																																				0.552	OR56A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383756.2	NM_001005179		5	15	1	0	0.014758	1	0.0153959	5	15				
AREL1	9870	broad.mit.edu	37	14	75136663	75136663	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr14:75136663C>A	ENST00000356357.4	-	14	2290	c.1775G>T	c.(1774-1776)cGt>cTt	p.R592L	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1	592	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GTAATGCATACGCAGTCCTAT	0.493																																						ENST00000356357.4																			0											c.(1774-1776)cGt>cTt		apoptosis resistant E3 ubiquitin protein ligase 1							79.0	77.0	78.0					14																	75136663		1922	4132	6054	SO:0001583	missense	9870							g.chr14:75136663C>A	AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682			20363	protein-coding gene	gene with protein product		615380	"""KIAA0317"""	KIAA0317		9205841, 23479728	Standard	XM_006720344		Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.1775G>T	14.37:g.75136663C>A	ENSP00000348714:p.Arg592Leu					AREL1_ENST00000557401.1_5'UTR	p.R592L	NM_001039479.1	NP_001034568.1					14	2290	-								B4E2C7|Q7LDY1|Q8IYY9	Missense_Mutation	SNP	ENST00000356357.4	37	c.1775G>T	CCDS41971.1	.	.	.	.	.	.	.	.	.	.	C	34	5.347667	0.95807	.	.	ENSG00000119682	ENST00000356357;ENST00000543377;ENST00000556202	T;T	0.58358	0.34;0.34	5.84	5.84	0.93424	HECT (4);	0.000000	0.85682	D	0.000000	T	0.75917	0.3915	M	0.79926	2.475	0.80722	D	1	D	0.69078	0.997	D	0.76575	0.988	T	0.77038	-0.2736	10	0.62326	D	0.03	.	20.139	0.98050	0.0:1.0:0.0:0.0	.	592	O15033	K0317_HUMAN	L	592;431;431	ENSP00000348714:R592L;ENSP00000452101:R431L	ENSP00000348714:R592L	R	-	2	0	KIAA0317	74206416	1.000000	0.71417	0.884000	0.34674	0.920000	0.55202	6.090000	0.71397	2.764000	0.94973	0.655000	0.94253	CGT		0.493	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335517.2	NM_014821		18	42	1	0	6.94344e-10	1	8.55445e-10	18	42				
CCT8L2	150160	broad.mit.edu	37	22	17073429	17073429	+	Silent	SNP	T	T	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr22:17073429T>A	ENST00000359963.3	-	1	271	c.12A>T	c.(10-12)acA>acT	p.T4T		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	4					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CTGAAGGGACTGTGCTGTCCA	0.627																																						ENST00000359963.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67						c.(10-12)acA>acT		chaperonin containing TCP1, subunit 8 (theta)-like 2							27.0	32.0	30.0					22																	17073429		2203	4300	6503	SO:0001819	synonymous_variant	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17073429T>A	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.12A>T	22.37:g.17073429T>A							p.T4T	NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN			1	271	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	4					A4QPH3|Q9UJS3	Silent	SNP	ENST00000359963.3	37	c.12A>T	CCDS13738.1																																																																																				0.627	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			19	23	0	0	0	1	0	19	23				
OR8D4	338662	broad.mit.edu	37	11	123777182	123777182	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:123777182C>T	ENST00000321355.2	+	1	74	c.44C>T	c.(43-45)tCa>tTa	p.S15L		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	15						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TTTCTTCTTTCAGGATTAACT	0.408																																						ENST00000321355.2																			0				large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(43-45)tCa>tTa		olfactory receptor, family 8, subfamily D, member 4							88.0	84.0	86.0					11																	123777182		2202	4299	6501	SO:0001583	missense	338662				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123777182C>T	AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"""GPCR / Class A : Olfactory receptors"""	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.44C>T	11.37:g.123777182C>T	ENSP00000325381:p.Ser15Leu						p.S15L	NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)	1	74	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	15					Q6IFE9	Missense_Mutation	SNP	ENST00000321355.2	37	c.44C>T	CCDS31698.1	.	.	.	.	.	.	.	.	.	.	C	9.606	1.130099	0.21041	.	.	ENSG00000181518	ENST00000321355	T	0.00039	8.85	5.58	-2.68	0.06041	.	0.955939	0.08515	N	0.934419	T	0.00039	0.0001	N	0.00339	-1.615	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.08848	-1.0702	10	0.10377	T	0.69	.	2.4301	0.04470	0.1209:0.2868:0.1198:0.4726	.	15	Q8NGM9	OR8D4_HUMAN	L	15	ENSP00000325381:S15L	ENSP00000325381:S15L	S	+	2	0	OR8D4	123282392	0.000000	0.05858	0.000000	0.03702	0.950000	0.60333	-1.149000	0.03182	-0.149000	0.11215	0.655000	0.94253	TCA		0.408	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387262.1	NM_001005197		33	26	0	0	0	1	0	33	26				
ATF7IP	55729	broad.mit.edu	37	12	14650641	14650641	+	Silent	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:14650641G>A	ENST00000540793.1	+	14	3602	c.3447G>A	c.(3445-3447)caG>caA	p.Q1149Q	ATF7IP_ENST00000536444.1_Silent_p.Q1148Q|ATF7IP_ENST00000544627.1_Silent_p.Q1157Q|ATF7IP_ENST00000261168.4_Silent_p.Q1149Q			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	1149					DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						CACAACCACAGCGTCTGCCCC	0.522																																						ENST00000544627.1																			0				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						c.(3469-3471)caG>caA		activating transcription factor 7 interacting protein							77.0	74.0	75.0					12																	14650641		2203	4300	6503	SO:0001819	synonymous_variant	55729				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	g.chr12:14650641G>A	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.3447G>A	12.37:g.14650641G>A						ATF7IP_ENST00000261168.4_Silent_p.Q1149Q|ATF7IP_ENST00000540793.1_Silent_p.Q1149Q|ATF7IP_ENST00000536444.1_Silent_p.Q1148Q	p.Q1157Q			Q6VMQ6	MCAF1_HUMAN			15	3791	+			1149			Fibronectin type-III.|Interaction with MBD1.		F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Silent	SNP	ENST00000540793.1	37	c.3471G>A	CCDS8663.1																																																																																				0.522	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179		13	31	0	0	0	1	0	13	31				
USP25	29761	broad.mit.edu	37	21	17236767	17236767	+	Splice_Site	SNP	T	T	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr21:17236767T>A	ENST00000285679.6	+	19	2885		c.e19+2		USP25_ENST00000351097.5_Intron|USP25_ENST00000400183.2_Splice_Site|USP25_ENST00000285681.2_Splice_Site	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25						cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TGATGAAAGGTAATTTGAAAG	0.294																																						ENST00000285681.2																			0				breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52						c.e20+2		ubiquitin specific peptidase 25							36.0	39.0	38.0					21																	17236767		2203	4299	6502	SO:0001630	splice_region_variant	29761				protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr21:17236767T>A	AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"""Ubiquitin-specific peptidases"""	12624	protein-coding gene	gene with protein product		604736	"""ubiquitin specific protease 25"""			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.2516+2T>A	21.37:g.17236767T>A						USP25_ENST00000351097.5_Intron|USP25_ENST00000285679.6_Splice_Site|USP25_ENST00000400183.2_Splice_Site				Q9UHP3	UBP25_HUMAN		Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)	20	2981	+								C0LSZ0|Q6DHZ9|Q9H9W1	Splice_Site	SNP	ENST00000285679.6	37		CCDS33515.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.038458	0.75617	.	.	ENSG00000155313	ENST00000285681;ENST00000285679;ENST00000400183;ENST00000449491	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.566	0.76294	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	USP25	16158638	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	7.618000	0.83043	2.130000	0.65690	0.533000	0.62120	.		0.294	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1		Intron	4	2	0	0	0	1	0	4	2				
OR4C3	256144	broad.mit.edu	37	11	48347268	48347268	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:48347268G>T	ENST00000319856.4	+	1	797	c.776G>T	c.(775-777)tGc>tTc	p.C259F		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	232						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(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						GATGGGAGATGCAAAGCCCTC	0.468																																						ENST00000319856.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						c.(775-777)tGc>tTc		olfactory receptor, family 4, subfamily C, member 3							267.0	216.0	234.0					11																	48347268		2201	4298	6499	SO:0001583	missense	256144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48347268G>T	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"""GPCR / Class A : Olfactory receptors"""	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.776G>T	11.37:g.48347268G>T	ENSP00000321419:p.Cys259Phe						p.C259F	NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN			1	797	+			232					B2RNF2|Q6IFB3	Missense_Mutation	SNP	ENST00000319856.4	37	c.776G>T	CCDS31489.1	.	.	.	.	.	.	.	.	.	.	G	8.543	0.873724	0.17322	.	.	ENSG00000176547	ENST00000319856;ENST00000395239	T	0.00076	8.76	5.87	3.02	0.34903	GPCR, rhodopsin-like superfamily (1);	0.251226	0.28718	N	0.014380	T	0.00109	0.0003	N	0.20530	0.585	0.09310	N	1	B	0.10296	0.003	B	0.25759	0.063	T	0.32188	-0.9916	10	0.72032	D	0.01	.	5.7999	0.18408	0.2282:0.1388:0.633:0.0	.	232	Q8NH37	OR4C3_HUMAN	F	259;122	ENSP00000321419:C259F	ENSP00000321419:C259F	C	+	2	0	OR4C3	48303844	0.000000	0.05858	0.356000	0.25785	0.647000	0.38526	-1.722000	0.01868	0.433000	0.26313	-0.327000	0.08410	TGC		0.468	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702		13	49	1	0	1.61879e-10	1	2.02731e-10	13	49				
LDB3	11155	broad.mit.edu	37	10	88477870	88477870	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr10:88477870T>A	ENST00000361373.4	+	10	1847	c.1826T>A	c.(1825-1827)cTg>cAg	p.L609Q	LDB3_ENST00000263066.6_Missense_Mutation_p.L499Q|LDB3_ENST00000458213.2_Missense_Mutation_p.L499Q|LDB3_ENST00000429277.2_Missense_Mutation_p.L614Q|LDB3_ENST00000352360.5_Missense_Mutation_p.L352Q	NM_007078.2	NP_009009.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						TTTGCCCCGCTGTGTGCCAAG	0.522																																						ENST00000429277.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						c.(1840-1842)cTg>cAg		LIM domain binding 3							146.0	134.0	138.0					10																	88477870		2203	4300	6503	SO:0001583	missense	11155					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding	g.chr10:88477870T>A	AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"""cypher"", ""oracle"", ""Z-band alternatively spliced PDZ motif protein"""	605906	"""cardiomyopathy, dilated 1C (autosomal dominant)"""	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000361373.4:c.1826T>A	10.37:g.88477870T>A	ENSP00000355296:p.Leu609Gln					LDB3_ENST00000458213.2_Missense_Mutation_p.L499Q|LDB3_ENST00000352360.5_Missense_Mutation_p.L352Q|LDB3_ENST00000263066.6_Missense_Mutation_p.L499Q|LDB3_ENST00000361373.4_Missense_Mutation_p.L609Q	p.L614Q	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN			11	1986	+			609			LIM zinc-binding 2.			Missense_Mutation	SNP	ENST00000361373.4	37	c.1841T>A	CCDS7377.1	.	.	.	.	.	.	.	.	.	.	T	15.82	2.947044	0.53186	.	.	ENSG00000122367	ENST00000539402;ENST00000429277;ENST00000458213;ENST00000352360;ENST00000263066;ENST00000361373	D;D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26;-2.26	5.79	5.79	0.91817	Zinc finger, LIM-type (3);	1.296020	0.05957	N	0.639909	D	0.83394	0.5245	L	0.28014	0.82	0.80722	D	1	B;B;P;B	0.49961	0.412;0.25;0.93;0.374	B;B;P;B	0.48488	0.1;0.132;0.579;0.186	T	0.72849	-0.4168	10	0.24483	T	0.36	.	6.1913	0.20526	0.0:0.1937:0.0:0.8063	.	614;352;609;499	B4E3K3;O75112-3;O75112;O75112-2	.;.;LDB3_HUMAN;.	Q	530;614;499;352;499;609	ENSP00000401437:L614Q;ENSP00000409148:L499Q;ENSP00000263067:L352Q;ENSP00000263066:L499Q;ENSP00000355296:L609Q	ENSP00000263066:L499Q	L	+	2	0	LDB3	88467850	0.896000	0.30565	0.645000	0.29479	0.636000	0.38137	4.811000	0.62606	2.207000	0.71202	0.533000	0.62120	CTG		0.522	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049160.2			81	16	0	0	0	1	0	81	16				
ZNF684	127396	broad.mit.edu	37	1	41012254	41012254	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:41012254G>C	ENST00000372699.3	+	5	510	c.259G>C	c.(259-261)Gat>Cat	p.D87H	ZNF684_ENST00000493756.1_3'UTR	NM_152373.3	NP_689586.3	Q5T5D7	ZN684_HUMAN	zinc finger protein 684	87					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(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			CCCACTTGTTGATGAACCAGG	0.343																																						ENST00000372699.3																			0				breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13						c.(259-261)Gat>Cat		zinc finger protein 684							66.0	64.0	65.0					1																	41012254		2203	4300	6503	SO:0001583	missense	127396				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:41012254G>C		CCDS454.1	1p34.2	2013-01-08			ENSG00000117010	ENSG00000117010		"""Zinc fingers, C2H2-type"", ""-"""	28418	protein-coding gene	gene with protein product	"""hypothetical protein MGC27466"""					12477932	Standard	NM_152373		Approved	MGC27466	uc001cft.2	Q5T5D7	OTTHUMG00000007359	ENST00000372699.3:c.259G>C	1.37:g.41012254G>C	ENSP00000361784:p.Asp87His					ZNF684_ENST00000493756.1_3'UTR	p.D87H	NM_152373.3	NP_689586.3	Q5T5D7	ZN684_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)		5	510	+	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	87					Q2NKY4	Missense_Mutation	SNP	ENST00000372699.3	37	c.259G>C	CCDS454.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.368598	0.42003	.	.	ENSG00000117010	ENST00000372699	T	0.05649	3.41	3.34	3.34	0.38264	.	0.440036	0.16861	N	0.196522	T	0.10423	0.0255	L	0.52126	1.63	0.80722	D	1	P	0.49635	0.926	P	0.46718	0.525	T	0.11397	-1.0589	10	0.49607	T	0.09	.	12.9894	0.58610	0.0:0.0:1.0:0.0	.	87	Q5T5D7	ZN684_HUMAN	H	87	ENSP00000361784:D87H	ENSP00000361784:D87H	D	+	1	0	ZNF684	40784841	0.904000	0.30761	0.994000	0.49952	0.627000	0.37826	1.142000	0.31540	2.167000	0.68274	0.655000	0.94253	GAT		0.343	ZNF684-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019260.3	NM_152373		4	38	0	0	0	1	0	4	38				
GAD2	2572	broad.mit.edu	37	10	26506860	26506860	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr10:26506860G>A	ENST00000376261.3	+	3	729	c.226G>A	c.(226-228)Gac>Aac	p.D76N	GAD2_ENST00000259271.3_Missense_Mutation_p.D76N|GAD2_ENST00000376248.1_5'Flank	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	76					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CTGCGCCTGCGACCAGAAGCC	0.697																																						ENST00000376261.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(226-228)Gac>Aac		glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	L-Glutamic Acid(DB00142)						20.0	26.0	24.0					10																	26506860		2198	4294	6492	SO:0001583	missense	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26506860G>A	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.226G>A	10.37:g.26506860G>A	ENSP00000365437:p.Asp76Asn					GAD2_ENST00000259271.3_Missense_Mutation_p.D76N	p.D76N	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN			3	729	+			76					Q9UD87	Missense_Mutation	SNP	ENST00000376261.3	37	c.226G>A	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	G	2.843	-0.240010	0.05944	.	.	ENSG00000136750	ENST00000376261;ENST00000259271;ENST00000428517	T;T;T	0.41065	1.01;1.01;1.01	5.84	-1.97	0.07503	.	0.514845	0.22853	N	0.054835	T	0.16811	0.0404	N	0.04508	-0.205	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.21621	-1.0240	10	0.09843	T	0.71	-1.111	12.9114	0.58182	0.5323:0.0:0.4677:0.0	.	76;76	Q4G154;Q05329	.;DCE2_HUMAN	N	76	ENSP00000365437:D76N;ENSP00000259271:D76N;ENSP00000390434:D76N	ENSP00000259271:D76N	D	+	1	0	GAD2	26546866	1.000000	0.71417	0.828000	0.32881	0.090000	0.18270	1.118000	0.31246	-0.212000	0.10109	-0.367000	0.07326	GAC		0.697	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		13	26	0	0	0	1	0	13	26				
CA8	767	broad.mit.edu	37	8	61137132	61137132	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr8:61137132T>C	ENST00000317995.4	-	6	853	c.589A>G	c.(589-591)Aca>Gca	p.T197A	CA8_ENST00000528666.1_5'UTR	NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	197					one-carbon metabolic process (GO:0006730)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasm (GO:0005737)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)			Zonisamide(DB00909)	CAAGGTATTGTTTTGGACTTC	0.264																																						ENST00000317995.4																			0				endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16						c.(589-591)Aca>Gca		carbonic anhydrase VIII							89.0	97.0	94.0					8																	61137132		2203	4295	6498	SO:0001583	missense	767				one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding	g.chr8:61137132T>C	L04656	CCDS6174.1	8q12.1	2012-08-21			ENSG00000178538	ENSG00000178538		"""Carbonic anhydrases"""	1382	protein-coding gene	gene with protein product		114815		CALS		17219437	Standard	NM_004056		Approved	CARP	uc003xtz.1	P35219	OTTHUMG00000165325	ENST00000317995.4:c.589A>G	8.37:g.61137132T>C	ENSP00000314407:p.Thr197Ala					CA8_ENST00000528666.1_5'UTR	p.T197A	NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN			6	853	-		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)	197					A8K0A5|B3KQZ7|Q32MY2	Missense_Mutation	SNP	ENST00000317995.4	37	c.589A>G	CCDS6174.1	.	.	.	.	.	.	.	.	.	.	T	9.416	1.081743	0.20309	.	.	ENSG00000178538	ENST00000317995	T	0.66815	-0.23	6.03	6.03	0.97812	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.328276	0.38837	N	0.001551	T	0.52306	0.1726	L	0.31578	0.945	0.42711	D	0.993645	B	0.02656	0.0	B	0.04013	0.001	T	0.51426	-0.8707	10	0.05436	T	0.98	.	16.5582	0.84512	0.0:0.0:0.0:1.0	.	197	P35219	CAH8_HUMAN	A	197	ENSP00000314407:T197A	ENSP00000314407:T197A	T	-	1	0	CA8	61299686	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.465000	0.60141	2.308000	0.77769	0.533000	0.62120	ACA		0.264	CA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383445.1			32	83	0	0	0	1	0	32	83				
TTN	7273	broad.mit.edu	37	2	179535851	179535851	+	Silent	SNP	A	A	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:179535851A>T	ENST00000591111.1	-	152	34376	c.34152T>A	c.(34150-34152)acT>acA	p.T11384T	TTN_ENST00000342992.6_Silent_p.T10457T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Silent_p.T11758T|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11378	Glu-rich.|Pro-rich.				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)			GAACAACTTTAGTGGGCGGTT	0.363																																						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.(35272-35274)acT>acA		titin							120.0	106.0	110.0					2																	179535851		1798	4059	5857	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179535851A>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.34152T>A	2.37:g.179535851A>T						TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.T11384T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.T10457T|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA	p.T11758T	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)		156	35498	-			9876			Glu-rich.|Pro-rich.		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	Silent	SNP	ENST00000591111.1	37	c.35274T>A		.	.	.	.	.	.	.	.	.	.	A	9.743	1.165275	0.21538	.	.	ENSG00000155657	ENST00000448510	.	.	.	5.39	4.2	0.49525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.6618	0.45706	0.9221:0.0:0.0779:0.0	.	.	.	.	K	116	.	.	X	-	1	0	TTN	179244096	0.002000	0.14202	0.972000	0.41901	0.989000	0.77384	0.686000	0.25392	2.266000	0.75297	0.455000	0.32223	TAA		0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	16	0	0	0	1	0	11	16				
CDADC1	81602	broad.mit.edu	37	13	49823102	49823102	+	Splice_Site	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr13:49823102G>T	ENST00000251108.6	+	2	290		c.e2+1		CDADC1_ENST00000496952.1_Splice_Site|CDADC1_ENST00000538056.1_Splice_Site|CDADC1_ENST00000444959.1_Splice_Site	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1								hydrolase activity (GO:0016787)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		AAAATCTCAGGTATAATTTGT	0.408																																						ENST00000251108.6																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16						c.e2+1		cytidine and dCMP deaminase domain containing 1							78.0	90.0	86.0					13																	49823102		2203	4300	6503	SO:0001630	splice_region_variant	81602						hydrolase activity|zinc ion binding	g.chr13:49823102G>T	AY027525	CCDS9415.1	13q14.11	2008-02-05			ENSG00000102543	ENSG00000102543			20299	protein-coding gene	gene with protein product							Standard	NM_001193478		Approved	NYD-SP15	uc001vcu.3	Q9BWV3	OTTHUMG00000016913	ENST00000251108.6:c.177+1G>T	13.37:g.49823102G>T						CDADC1_ENST00000444959.1_Splice_Site|CDADC1_ENST00000538056.1_Splice_Site|CDADC1_ENST00000496952.1_Splice_Site		NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)	2	290	+		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)						Q49A08|Q4G119|Q5TAW9|Q7Z764|Q9NT36	Splice_Site	SNP	ENST00000251108.6	37		CCDS9415.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.948644	0.73787	.	.	ENSG00000102543	ENST00000538056;ENST00000251108;ENST00000429346	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8452	0.85978	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDADC1	48721103	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.756000	0.68757	2.749000	0.94314	0.655000	0.94253	.		0.408	CDADC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044902.2	NM_030911	Intron	36	23	1	0	2.47316e-13	1	3.21087e-13	36	23				
GRM5	2915	broad.mit.edu	37	11	88323788	88323788	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:88323788C>A	ENST00000305447.4	-	6	1820	c.1671G>T	c.(1669-1671)tgG>tgT	p.W557C	GRM5_ENST00000455756.2_Missense_Mutation_p.W557C|GRM5_ENST00000418177.2_Missense_Mutation_p.W557C|GRM5_ENST00000393297.1_Missense_Mutation_p.W557C|GRM5_ENST00000305432.5_Missense_Mutation_p.W557C	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	557					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	CATCAGTGGGCCAAGACCCCA	0.473																																						ENST00000418177.2																			0				NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(1669-1671)tgG>tgT		glutamate receptor, metabotropic 5	Acamprosate(DB00659)						130.0	99.0	110.0					11																	88323788		2201	4299	6500	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88323788C>A	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.1671G>T	11.37:g.88323788C>A	ENSP00000306138:p.Trp557Cys					GRM5_ENST00000393297.1_Missense_Mutation_p.W557C|GRM5_ENST00000305447.4_Missense_Mutation_p.W557C|GRM5_ENST00000455756.2_Missense_Mutation_p.W557C|GRM5_ENST00000305432.5_Missense_Mutation_p.W557C	p.W557C			P41594	GRM5_HUMAN			7	2038	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	557					Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.1671G>T	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.875300	0.72180	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85;-2.85	5.06	5.06	0.68205	GPCR, family 3, nine cysteines domain (1);	0.000000	0.85682	D	0.000000	D	0.96932	0.8998	H	0.95611	3.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.98212	1.0473	9	.	.	.	.	18.4206	0.90588	0.0:1.0:0.0:0.0	.	557;557	P41594-2;P41594	.;GRM5_HUMAN	C	557	ENSP00000402912:W557C;ENSP00000405690:W557C;ENSP00000305905:W557C;ENSP00000306138:W557C;ENSP00000376975:W557C	.	W	-	3	0	GRM5	87963436	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.458000	0.80787	2.363000	0.80096	0.655000	0.94253	TGG		0.473	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		16	33	1	0	4.7546e-09	1	5.76414e-09	16	33				
DNAH11	8701	broad.mit.edu	37	7	21639713	21639713	+	Silent	SNP	A	A	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:21639713A>C	ENST00000409508.3	+	15	3007	c.2976A>C	c.(2974-2976)acA>acC	p.T992T	DNAH11_ENST00000328843.6_Silent_p.T992T	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	992	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						GAATAGCAACACACCTGGAAA	0.358									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.(2974-2976)acA>acC		dynein, axonemal, heavy chain 11							44.0	43.0	43.0					7																	21639713		1821	4068	5889	SO:0001819	synonymous_variant	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.chr7:21639713A>C	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.2976A>C	7.37:g.21639713A>C						DNAH11_ENST00000409508.3_Silent_p.T992T	p.T992T			Q96DT5	DYH11_HUMAN			15	3007	+			992			Stem (By similarity).		Q9UJ82	Silent	SNP	ENST00000409508.3	37	c.2976A>C																																																																																					0.358	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		14	29	0	0	0	1	0	14	29				
SULF1	23213	broad.mit.edu	37	8	70550989	70550989	+	Missense_Mutation	SNP	C	C	T	rs111626231		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr8:70550989C>T	ENST00000260128.4	+	21	3164	c.2447C>T	c.(2446-2448)aCg>aTg	p.T816M	SULF1_ENST00000402687.4_Missense_Mutation_p.T816M|SULF1_ENST00000419716.3_Missense_Mutation_p.T816M|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Missense_Mutation_p.T816M	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	816					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)			ACAGTGCACACGGTAGAACGA	0.388													C|||	1	0.000199681	0.0	0.0	5008	,	,		18591	0.0		0.0	False		,,,				2504	0.001					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.(2446-2448)aCg>aTg		sulfatase 1		C	MET/THR,MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	128.0	115.0	119.0		2447,2447,2447,2447	4.3	0.9	8	dbSNP_132	119	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense,missense,missense	SULF1	NM_001128204.1,NM_001128205.1,NM_001128206.1,NM_015170.2	81,81,81,81	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging,probably-damaging,probably-damaging,probably-damaging	816/872,816/872,816/872,816/872	70550989	4,13002	2203	4300	6503	SO:0001583	missense	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.chr8:70550989C>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.2447C>T	8.37:g.70550989C>T	ENSP00000260128:p.Thr816Met					SULF1_ENST00000402687.4_Missense_Mutation_p.T816M|SULF1_ENST00000419716.3_Missense_Mutation_p.T816M|SULF1_ENST00000458141.2_Missense_Mutation_p.T816M|SULF1_ENST00000521946.1_3'UTR	p.T816M	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)		21	3164	+	Breast(64;0.0654)		816					Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	c.2447C>T	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925071	0.73213	0.0	4.65E-4	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	5.14	4.26	0.50523	Alkaline-phosphatase-like, core domain (1);	0.225673	0.45606	N	0.000355	T	0.36880	0.0983	M	0.85197	2.74	0.49130	D	0.99975	D	0.56746	0.977	B	0.43123	0.409	T	0.52011	-0.8632	10	0.87932	D	0	.	13.7825	0.63091	0.0:0.9258:0.0:0.0742	.	816	Q8IWU6	SULF1_HUMAN	M	816	ENSP00000403040:T816M;ENSP00000260128:T816M;ENSP00000385704:T816M;ENSP00000390315:T816M	ENSP00000260128:T816M	T	+	2	0	SULF1	70713543	1.000000	0.71417	0.920000	0.36463	0.970000	0.65996	4.921000	0.63397	1.309000	0.44985	0.650000	0.86243	ACG		0.388	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		24	84	0	0	0	1	0	24	84				
BOLL	66037	broad.mit.edu	37	2	198621153	198621153	+	Splice_Site	SNP	T	T	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:198621153T>G	ENST00000392296.4	-	9	1037	c.728A>C	c.(727-729)gAg>gCg	p.E243A	BOLL_ENST00000433157.1_Splice_Site_p.E243A|BOLL_ENST00000282278.8_Splice_Site_p.E134A|AC011997.1_ENST00000409845.1_Intron|BOLL_ENST00000321801.7_Splice_Site_p.E255A|BOLL_ENST00000430004.1_Splice_Site_p.E265A	NM_033030.5	NP_149019.1	Q8N9W6	BOLL_HUMAN	boule-like RNA-binding protein	243					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|positive regulation of translational initiation (GO:0045948)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|translation activator activity (GO:0008494)			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						AATACATACCTCTGGAACTGA	0.363																																						ENST00000321801.7																			0				central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						c.e9+1		boule-like RNA-binding protein							72.0	70.0	71.0					2																	198621153		2203	4300	6503	SO:0001630	splice_region_variant	66037				cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	nucleotide binding|protein binding|RNA binding|translation activator activity	g.chr2:198621153T>G		CCDS2324.1, CCDS2325.1, CCDS63081.1	2q33	2013-10-17	2013-10-17		ENSG00000152430	ENSG00000152430		"""RNA binding motif (RRM) containing"""	14273	protein-coding gene	gene with protein product		606165	"""bol (Drosophila boule homolog)-like"", ""bol, boule-like (Drosophila)"""			11390979, 16001084	Standard	NM_197970		Approved	BOULE	uc002uut.2	Q8N9W6	OTTHUMG00000132747	ENST00000392296.4:c.729+1A>C	2.37:g.198621153T>G						BOLL_ENST00000392296.4_Splice_Site_p.E243_splice|BOLL_ENST00000433157.1_Splice_Site_p.E243_splice|AC011997.1_ENST00000409845.1_Intron|BOLL_ENST00000282278.8_Splice_Site_p.E134_splice|BOLL_ENST00000430004.1_Splice_Site_p.E265_splice	p.E255_splice	NM_197970.2	NP_932074.1	Q8N9W6	BOLL_HUMAN			9	1334	-			243					B4DZA4|Q0JW32|Q53T62|Q969U3	Splice_Site	SNP	ENST00000392296.4	37	c.765_splice	CCDS2325.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.943033	0.73672	.	.	ENSG00000152430	ENST00000430004;ENST00000392296;ENST00000321801;ENST00000282278;ENST00000433157	T;T;T;T	0.32272	1.46;1.79;1.78;1.79	5.31	5.31	0.75309	.	0.000000	0.64402	D	0.000003	T	0.39682	0.1087	N	0.19112	0.55	0.35822	D	0.824674	D;D;D;D;D	0.67145	0.99;0.996;0.99;0.965;0.99	D;D;D;P;D	0.77557	0.979;0.99;0.979;0.637;0.979	T	0.53927	-0.8369	10	0.72032	D	0.01	-25.0709	12.7921	0.57539	0.0:0.0:0.0:1.0	.	134;271;255;243;249	B4DZA4;Q8N9W6-2;Q8N9W6-3;Q8N9W6;Q8N9W6-4	.;.;.;BOLL_HUMAN;.	A	265;243;255;134;243	ENSP00000397711:E265A;ENSP00000376116:E243A;ENSP00000314792:E255A;ENSP00000396099:E243A	ENSP00000282278:E134A	E	-	2	0	BOLL	198329398	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.851000	0.62896	2.019000	0.59389	0.455000	0.32223	GAG		0.363	BOLL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256107.3	NM_033030	Missense_Mutation	8	16	0	0	0	1	0	8	16				
AOAH	313	broad.mit.edu	37	7	36671702	36671702	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:36671702C>A	ENST00000258749.5	-	6	860	c.461G>T	c.(460-462)aGa>aTa	p.R154I	AOAH_ENST00000431169.1_Missense_Mutation_p.R154I|AOAH_ENST00000535891.1_Missense_Mutation_p.R122I	NM_001637.3	NP_001628.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	154					inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|lipopolysaccharide metabolic process (GO:0008653)|negative regulation of inflammatory response (GO:0050728)	extracellular region (GO:0005576)	acyloxyacyl hydrolase activity (GO:0050528)|catalytic activity (GO:0003824)|lipoprotein lipase activity (GO:0004465)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						AGAACCACTTCTAGAATATTT	0.388																																						ENST00000431169.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						c.(460-462)aGa>aTa		acyloxyacyl hydrolase (neutrophil)							36.0	39.0	38.0					7																	36671702		2203	4300	6503	SO:0001583	missense	313				inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity	g.chr7:36671702C>A	BC025698	CCDS5448.1, CCDS55102.1, CCDS75584.1	7p14-p12	2014-03-14			ENSG00000136250	ENSG00000136250	3.1.1.77		548	protein-coding gene	gene with protein product		102593				1883828	Standard	NM_001637		Approved		uc022abu.1	P28039	OTTHUMG00000023566	ENST00000258749.5:c.461G>T	7.37:g.36671702C>A	ENSP00000258749:p.Arg154Ile					AOAH_ENST00000258749.5_Missense_Mutation_p.R154I|AOAH_ENST00000535891.1_Missense_Mutation_p.R122I	p.R154I	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN			6	761	-			154					A4D1Y5|B7Z490|Q53F13	Missense_Mutation	SNP	ENST00000258749.5	37	c.461G>T	CCDS5448.1	.	.	.	.	.	.	.	.	.	.	C	12.50	1.957055	0.34565	.	.	ENSG00000136250	ENST00000535891;ENST00000258749;ENST00000431169;ENST00000544647	T;T;T	0.77358	1.95;-1.05;-1.09	4.81	1.94	0.25998	.	0.688503	0.14822	N	0.296382	T	0.69405	0.3107	.	.	.	0.20926	N	0.999825	P;B;B	0.41041	0.736;0.131;0.017	B;B;B	0.41988	0.372;0.008;0.002	T	0.60500	-0.7251	9	0.59425	D	0.04	.	5.105	0.14779	0.0:0.6402:0.1711:0.1888	.	122;154;154	B7Z490;C9J8T1;P28039	.;.;AOAH_HUMAN	I	122;154;154;154	ENSP00000441101:R122I;ENSP00000258749:R154I;ENSP00000405683:R154I	ENSP00000258749:R154I	R	-	2	0	AOAH	36638227	0.002000	0.14202	0.060000	0.19600	0.489000	0.33432	-0.095000	0.11077	0.314000	0.23086	0.655000	0.94253	AGA		0.388	AOAH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219829.2	NM_001637		7	12	1	0	0.0381472	1	0.0393324	7	12				
AFF3	3899	broad.mit.edu	37	2	100209883	100209883	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:100209883G>A	ENST00000409236.2	-	13	2352	c.2240C>T	c.(2239-2241)cCc>cTc	p.P747L	AFF3_ENST00000356421.2_Missense_Mutation_p.P772L|AFF3_ENST00000317233.4_Missense_Mutation_p.P747L|AFF3_ENST00000409579.1_Missense_Mutation_p.P772L			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	747					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						CCGGCCAAAGGGGACCAGTGT	0.577																																						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.(2239-2241)cCc>cTc		AF4/FMR2 family, member 3							71.0	67.0	69.0					2																	100209883		2203	4300	6503	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100209883G>A	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.2240C>T	2.37:g.100209883G>A	ENSP00000387207:p.Pro747Leu					AFF3_ENST00000409579.1_Missense_Mutation_p.P772L|AFF3_ENST00000409236.1_Missense_Mutation_p.P747L|AFF3_ENST00000356421.2_Missense_Mutation_p.P772L	p.P747L	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			14	2475	-			747					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.2240C>T	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.249168	0.80024	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63	5.5	5.5	0.81552	.	0.000000	0.56097	D	0.000032	D	0.92619	0.7655	M	0.87180	2.865	0.80722	D	1	D;D;D	0.89917	1.0;0.977;1.0	D;D;D	0.85130	0.997;0.983;0.992	D	0.93455	0.6805	10	0.87932	D	0	.	19.3822	0.94542	0.0:0.0:1.0:0.0	.	900;747;772	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	L	747;772;772;747;747;900;772	ENSP00000317421:P747L;ENSP00000348793:P772L;ENSP00000386834:P772L;ENSP00000387207:P747L	ENSP00000317421:P747L	P	-	2	0	AFF3	99576315	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.244000	0.72391	2.596000	0.87737	0.561000	0.74099	CCC		0.577	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		29	38	0	0	0	1	0	29	38				
VPS13A	23230	broad.mit.edu	37	9	79980395	79980395	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:79980395A>T	ENST00000360280.3	+	60	8491	c.8231A>T	c.(8230-8232)gAt>gTt	p.D2744V	VPS13A_ENST00000376634.4_Missense_Mutation_p.D2744V|VPS13A_ENST00000357409.5_Missense_Mutation_p.D2744V|VPS13A_ENST00000376636.3_Missense_Mutation_p.D2705V	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2744					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTTCATAAAGATATAGAAGCT	0.323																																						ENST00000360280.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(8230-8232)gAt>gTt		vacuolar protein sorting 13 homolog A (S. cerevisiae)							71.0	72.0	72.0					9																	79980395		2202	4297	6499	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79980395A>T	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.8231A>T	9.37:g.79980395A>T	ENSP00000353422:p.Asp2744Val					VPS13A_ENST00000376634.4_Missense_Mutation_p.D2744V|VPS13A_ENST00000376636.3_Missense_Mutation_p.D2705V|VPS13A_ENST00000357409.5_Missense_Mutation_p.D2744V	p.D2744V	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			60	8491	+			2744					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.8231A>T	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.242282	0.79912	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.92014	0.7470	M	0.86953	2.85	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.996;0.999;1.0	D	0.92952	0.6381	9	.	.	.	.	15.6693	0.77262	1.0:0.0:0.0:0.0	.	2705;2744;2744;2744	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	V	2744;2705;2744;2744	ENSP00000365821:D2744V;ENSP00000365823:D2705V;ENSP00000353422:D2744V;ENSP00000349985:D2744V	.	D	+	2	0	VPS13A	79170215	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.778000	0.91785	2.095000	0.63458	0.528000	0.53228	GAT		0.323	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		7	24	0	0	0	1	0	7	24				
HNRNPA3	220988	broad.mit.edu	37	2	178080842	178080842	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:178080842A>T	ENST00000392524.2	+	4	716	c.479A>T	c.(478-480)gAc>gTc	p.D160V	HNRNPA3_ENST00000435711.1_Missense_Mutation_p.D160V|HNRNPA3_ENST00000411529.2_Missense_Mutation_p.D138V			P51991	ROA3_HUMAN	heterogeneous nuclear ribonucleoprotein A3	160	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						GTTATGGAAGACAGGCAGAGT	0.308																																						ENST00000411529.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						c.(412-414)gAc>gTc		heterogeneous nuclear ribonucleoprotein A3							28.0	29.0	29.0					2																	178080842		2197	4259	6456	SO:0001583	missense	220988					catalytic step 2 spliceosome|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr2:178080842A>T	AF517524	CCDS2273.1	2q31.2	2013-02-12		2008-04-18	ENSG00000170144	ENSG00000170144		"""RNA binding motif (RRM) containing"""	24941	protein-coding gene	gene with protein product		605372		HNRPA3		11886857, 15776420	Standard	XM_005246380		Approved		uc002ulc.1	P51991	OTTHUMG00000132529	ENST00000392524.2:c.479A>T	2.37:g.178080842A>T	ENSP00000376309:p.Asp160Val					HNRNPA3_ENST00000392524.2_Missense_Mutation_p.D160V|HNRNPA3_ENST00000435711.1_Missense_Mutation_p.D160V	p.D138V	NM_194247.2	NP_919223.1	P51991	ROA3_HUMAN			4	464	+			160			RRM 2.		D3DPF4|Q53RW7|Q6URK5	Missense_Mutation	SNP	ENST00000392524.2	37	c.413A>T	CCDS2273.1	.	.	.	.	.	.	.	.	.	.	A	19.13	3.768087	0.69878	.	.	ENSG00000170144	ENST00000392524;ENST00000411529;ENST00000416446;ENST00000420139;ENST00000435711	D;D;D	0.92699	-3.09;-3.09;-3.09	4.11	4.11	0.48088	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.49305	D	0.000156	D	0.97081	0.9046	H	0.96398	3.815	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.74023	0.982;0.972	D	0.98057	1.0391	10	0.87932	D	0	.	13.4269	0.61030	1.0:0.0:0.0:0.0	.	138;160	B4DDB6;P51991	.;ROA3_HUMAN	V	160;138;138;138;160	ENSP00000376309:D160V;ENSP00000408487:D138V;ENSP00000416340:D160V	ENSP00000376309:D160V	D	+	2	0	HNRNPA3	177789088	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.231000	0.95317	1.651000	0.50673	0.383000	0.25322	GAC		0.308	HNRNPA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255729.3	NM_194247		16	18	0	0	0	1	0	16	18				
PDDC1	347862	broad.mit.edu	37	11	773589	773589	+	Silent	SNP	C	C	A			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr11:773589C>A	ENST00000319863.8	-	4	309	c.288G>T	c.(286-288)ggG>ggT	p.G96G	PDDC1_ENST00000526325.1_Silent_p.G96G|PDDC1_ENST00000397472.2_Silent_p.G96G|PDDC1_ENST00000529966.1_5'UTR|PDDC1_ENST00000524550.1_Intron|PDDC1_ENST00000442059.2_Silent_p.G46G	NM_182612.2	NP_872418.1	Q8NB37	PDDC1_HUMAN	Parkinson disease 7 domain containing 1	96						extracellular vesicular exosome (GO:0070062)				kidney(1)|lung(3)|urinary_tract(1)	5		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGGTCAGGGCCCCAGGACAGC	0.642																																						ENST00000319863.8																			0				kidney(1)|lung(3)|urinary_tract(1)	5						c.(286-288)ggG>ggT		Parkinson disease 7 domain containing 1							31.0	29.0	30.0					11																	773589		2201	4297	6498	SO:0001819	synonymous_variant	347862					extracellular region		g.chr11:773589C>A	AK128653	CCDS7713.1	11p15.5	2005-10-26			ENSG00000177225	ENSG00000177225			26616	protein-coding gene	gene with protein product							Standard	XM_005252898		Approved	FLJ34283	uc001lrc.3	Q8NB37	OTTHUMG00000133315	ENST00000319863.8:c.288G>T	11.37:g.773589C>A						PDDC1_ENST00000397472.2_Silent_p.G96G|PDDC1_ENST00000524550.1_Intron|PDDC1_ENST00000529966.1_5'UTR|PDDC1_ENST00000526325.1_Silent_p.G96G|PDDC1_ENST00000442059.2_Silent_p.G46G	p.G96G	NM_182612.2	NP_872418.1	Q8NB37	PDDC1_HUMAN		all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)	4	309	-		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)	96					B7ZKW5|Q2NL76|Q6ZQY0|Q8NAE0	Silent	SNP	ENST00000319863.8	37	c.288G>T	CCDS7713.1																																																																																				0.642	PDDC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258051.2	NM_182612		8	18	1	0	0.000274275	1	0.000299056	8	18				
SH3PXD2A	9644	broad.mit.edu	37	10	105362864	105362864	+	Missense_Mutation	SNP	G	G	C	rs375350204		TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr10:105362864G>C	ENST00000369774.4	-	15	2387	c.2111C>G	c.(2110-2112)tCt>tGt	p.S704C	SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.S539C|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.S571C|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.S676C|SH3PXD2A_ENST00000315994.6_5'UTR			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	704	Ser-rich.				superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		ggaggaggaagaggaggagCA	0.577																																						ENST00000369774.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38						c.(2110-2112)tCt>tGt		SH3 and PX domains 2A							86.0	97.0	93.0					10																	105362864		2203	4300	6503	SO:0001583	missense	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105362864G>C	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.2111C>G	10.37:g.105362864G>C	ENSP00000358789:p.Ser704Cys					SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.S539C|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.S571C|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.S676C|SH3PXD2A_ENST00000427662.2_Intron	p.S704C			Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	15	2387	-		Colorectal(252;0.0815)|Breast(234;0.131)	704			Ser-rich.		D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	ENST00000369774.4	37	c.2111C>G		.	.	.	.	.	.	.	.	.	.	G	12.92	2.082594	0.36758	.	.	ENSG00000107957	ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130	T;T;T;T	0.58797	0.38;0.38;0.53;0.31	4.15	4.15	0.48705	.	0.256047	0.28062	N	0.016744	T	0.62502	0.2433	L	0.29908	0.895	0.29997	N	0.816397	D;D;D;D	0.76494	0.999;0.999;0.976;0.986	D;D;P;P	0.76071	0.987;0.987;0.628;0.794	T	0.59815	-0.7383	10	0.39692	T	0.17	-13.5395	11.9127	0.52747	0.0:0.0:1.0:0.0	.	704;553;549;676	Q5TCZ1;B7Z9L8;B7Z3B0;Q5TCZ1-3	SPD2A_HUMAN;.;.;.	C	704;676;511;619;571;539	ENSP00000358789:S704C;ENSP00000348215:S676C;ENSP00000443663:S571C;ENSP00000441514:S539C	ENSP00000318135:S511C	S	-	2	0	SH3PXD2A	105352854	0.997000	0.39634	0.987000	0.45799	0.951000	0.60555	1.960000	0.40422	1.850000	0.53721	0.561000	0.74099	TCT		0.577	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		25	100	0	0	0	1	0	25	100				
TENC1	23371	broad.mit.edu	37	12	53451445	53451445	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:53451445G>T	ENST00000314250.6	+	12	1230	c.940G>T	c.(940-942)Gcc>Tcc	p.A314S	TENC1_ENST00000546602.1_Missense_Mutation_p.A314S|TENC1_ENST00000549700.1_Missense_Mutation_p.A314S|TENC1_ENST00000314276.3_Missense_Mutation_p.A324S|TENC1_ENST00000552570.1_Missense_Mutation_p.A314S|TENC1_ENST00000379902.3_Missense_Mutation_p.A190S|TENC1_ENST00000451358.1_Missense_Mutation_p.A314S	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	314	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CATGCTGCCAGCCTTTGAACC	0.562																																						ENST00000314250.6																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						c.(940-942)Gcc>Tcc		tensin like C1 domain containing phosphatase (tensin 2)							156.0	152.0	153.0					12																	53451445		2203	4300	6503	SO:0001583	missense	23371				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding	g.chr12:53451445G>T	AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	19737	protein-coding gene	gene with protein product	"""tensin 2"""	607717	"""tensin like C1 domain-containing phosphatase"""				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.940G>T	12.37:g.53451445G>T	ENSP00000319684:p.Ala314Ser					TENC1_ENST00000379902.3_Missense_Mutation_p.A190S|TENC1_ENST00000546602.1_Missense_Mutation_p.A314S|TENC1_ENST00000314276.3_Missense_Mutation_p.A324S|TENC1_ENST00000451358.1_Missense_Mutation_p.A314S|TENC1_ENST00000552570.1_Missense_Mutation_p.A314S|TENC1_ENST00000549700.1_Missense_Mutation_p.A314S	p.A314S	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN			12	1230	+			314			C2 tensin-type.		A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Missense_Mutation	SNP	ENST00000314250.6	37	c.940G>T	CCDS8843.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.124110	0.37533	.	.	ENSG00000111077	ENST00000379902;ENST00000314276;ENST00000314250;ENST00000451358;ENST00000443113;ENST00000546602;ENST00000552570;ENST00000549700	D;D;D;D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92;-1.92;-1.92;-1.92	4.44	4.44	0.53790	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.222303	0.38492	N	0.001675	D	0.82356	0.5019	L	0.31420	0.93	0.39261	D	0.964202	P;B;P	0.47034	0.889;0.049;0.865	P;B;P	0.51866	0.682;0.064;0.554	T	0.78957	-0.1999	10	0.12766	T	0.61	.	15.366	0.74523	0.0:0.0:1.0:0.0	.	314;314;324	Q63HR2;F8W661;Q63HR2-4	TENC1_HUMAN;.;.	S	190;324;314;314;314;314;314;314	ENSP00000369232:A190S;ENSP00000319756:A324S;ENSP00000319684:A314S;ENSP00000393362:A314S;ENSP00000449363:A314S;ENSP00000447021:A314S;ENSP00000449361:A314S	ENSP00000319684:A314S	A	+	1	0	TENC1	51737712	1.000000	0.71417	1.000000	0.80357	0.140000	0.21249	4.029000	0.57253	2.414000	0.81942	0.467000	0.42956	GCC		0.562	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405779.1	NM_170754		79	116	1	0	6.43283e-47	1	9.51485e-47	79	116				
DPYSL3	1809	broad.mit.edu	37	5	146777234	146777234	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr5:146777234T>C	ENST00000398514.3	-	12	1827	c.1456A>G	c.(1456-1458)Agg>Ggg	p.R486G	DPYSL3_ENST00000534907.1_Missense_Mutation_p.R112G|DPYSL3_ENST00000343218.5_Missense_Mutation_p.R600G	NM_001387.2	NP_001378.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	486					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cell migration (GO:0030336)|negative regulation of neuron projection development (GO:0010977)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron projection development (GO:0010976)|protein homooligomerization (GO:0051260)|pyrimidine nucleobase catabolic process (GO:0006208)|response to axon injury (GO:0048678)	cell body (GO:0044297)|cytosol (GO:0005829)|extracellular space (GO:0005615)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|lamellipodium (GO:0030027)	chondroitin sulfate binding (GO:0035374)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)|SH3 domain binding (GO:0017124)			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTACCTTCCTCCGTGCTTTA	0.537																																						ENST00000343218.5																			0				breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1798-1800)Agg>Ggg		dihydropyrimidinase-like 3							76.0	79.0	78.0					5																	146777234		2019	4193	6212	SO:0001583	missense	1809				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity	g.chr5:146777234T>C	D78014	CCDS43381.1, CCDS56387.1	5q32	2008-02-05							3015	protein-coding gene	gene with protein product		601168				8973361, 9115293	Standard	NM_001197294		Approved	DRP-3, ULIP, CRMP4	uc003loo.3	Q14195		ENST00000398514.3:c.1456A>G	5.37:g.146777234T>C	ENSP00000381526:p.Arg486Gly					DPYSL3_ENST00000534907.1_Missense_Mutation_p.R112G|DPYSL3_ENST00000398514.3_Missense_Mutation_p.R486G	p.R600G	NM_001197294.1	NP_001184223.1	Q14195	DPYL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		12	1995	-			486					B3SXQ8|Q93012	Missense_Mutation	SNP	ENST00000398514.3	37	c.1798A>G	CCDS43381.1	.	.	.	.	.	.	.	.	.	.	T	15.93	2.978527	0.53720	.	.	ENSG00000113657	ENST00000398514;ENST00000343218;ENST00000534907	D;D;T	0.85258	-1.95;-1.96;-0.79	5.82	5.82	0.92795	.	0.085373	0.85682	D	0.000000	T	0.68311	0.2987	N	0.02011	-0.69	0.53688	D	0.999971	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.64875	-0.6304	10	0.33940	T	0.23	-16.256	16.1986	0.82053	0.0:0.0:0.0:1.0	.	600;486	B3SXQ8;Q14195	.;DPYL3_HUMAN	G	486;600;112	ENSP00000381526:R486G;ENSP00000343690:R600G;ENSP00000441819:R112G	ENSP00000343690:R600G	R	-	1	2	DPYSL3	146757427	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	6.197000	0.72100	2.227000	0.72691	0.455000	0.32223	AGG		0.537	DPYSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373421.2	NM_001387		28	18	0	0	0	1	0	28	18				
PTPN13	5783	broad.mit.edu	37	4	87726497	87726497	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:87726497G>C	ENST00000411767.2	+	44	6783	c.6720G>C	c.(6718-6720)aaG>aaC	p.K2240N	PTPN13_ENST00000427191.2_Missense_Mutation_p.K2221N|PTPN13_ENST00000436978.1_Missense_Mutation_p.K2245N|PTPN13_ENST00000511467.1_Missense_Mutation_p.K2245N|PTPN13_ENST00000316707.6_Missense_Mutation_p.K2049N			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2240	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		ACAGAAGGAAGAACAGATATA	0.289																																						ENST00000436978.1																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(6733-6735)aaG>aaC		protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)							64.0	64.0	64.0					4																	87726497		1807	4063	5870	SO:0001583	missense	5783					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr4:87726497G>C		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.6720G>C	4.37:g.87726497G>C	ENSP00000407249:p.Lys2240Asn					PTPN13_ENST00000411767.2_Missense_Mutation_p.K2240N|PTPN13_ENST00000316707.6_Missense_Mutation_p.K2049N|PTPN13_ENST00000427191.2_Missense_Mutation_p.K2221N|PTPN13_ENST00000511467.1_Missense_Mutation_p.K2245N	p.K2245N	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	44	7215	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	2240			Tyrosine-protein phosphatase.		B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	c.6735G>C	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.737419	0.69304	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0	5.93	3.92	0.45320	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.53938	D	0.000050	T	0.60143	0.2246	H	0.97874	4.095	0.47441	D	0.999421	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;1.0	T	0.73297	-0.4027	10	0.87932	D	0	.	11.1147	0.48254	0.2168:0.0:0.7832:0.0	.	2049;2221;2240;2245	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	N	2221;2245;2049;2240;2245;2189	ENSP00000408368:K2221N;ENSP00000394794:K2245N;ENSP00000322675:K2049N;ENSP00000407249:K2240N;ENSP00000426626:K2245N	ENSP00000322675:K2049N	K	+	3	2	PTPN13	87945521	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.049000	0.49869	1.511000	0.48818	0.655000	0.94253	AAG		0.289	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			5	29	0	0	0	1	0	5	29				
TWISTNB	221830	broad.mit.edu	37	7	19738286	19738286	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:19738286T>C	ENST00000222567.5	-	4	740	c.670A>G	c.(670-672)Aaa>Gaa	p.K224E		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	224	Lys-rich.				transcription from RNA polymerase I promoter (GO:0006360)	DNA-directed RNA polymerase I complex (GO:0005736)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						TTAGGTTTTTTAGCAGCTTCC	0.358																																						ENST00000222567.5																			0				kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						c.(670-672)Aaa>Gaa		TWIST neighbor							89.0	99.0	96.0					7																	19738286		2203	4298	6501	SO:0001583	missense	221830					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity	g.chr7:19738286T>C	AK090846	CCDS34606.1	7p21.1	2010-08-05			ENSG00000105849	ENSG00000105849			18027	protein-coding gene	gene with protein product		608312				12438708	Standard	NM_001002926		Approved		uc003sup.1	Q3B726	OTTHUMG00000152497	ENST00000222567.5:c.670A>G	7.37:g.19738286T>C	ENSP00000222567:p.Lys224Glu						p.K224E	NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN			4	740	-			224			Lys-rich.		A0PJ45|B7Z724	Missense_Mutation	SNP	ENST00000222567.5	37	c.670A>G	CCDS34606.1	.	.	.	.	.	.	.	.	.	.	T	0.040	-1.288883	0.01387	.	.	ENSG00000105849	ENST00000222567	.	.	.	5.32	3.4	0.38934	.	0.555393	0.21056	N	0.080902	T	0.06416	0.0165	N	0.00483	-1.445	0.22827	N	0.99868	B	0.02656	0.0	B	0.01281	0.0	T	0.38222	-0.9671	9	0.02654	T	1	-20.478	5.4965	0.16805	0.0:0.639:0.1791:0.182	.	224	Q3B726	RPA43_HUMAN	E	224	.	ENSP00000222567:K224E	K	-	1	0	TWISTNB	19704811	0.015000	0.18098	0.993000	0.49108	0.237000	0.25408	0.045000	0.14013	1.360000	0.45960	-0.624000	0.04008	AAA		0.358	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326463.1			59	95	0	0	0	1	0	59	95				
PLEKHG1	57480	broad.mit.edu	37	6	151151761	151151761	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:151151761C>T	ENST00000358517.2	+	15	1725	c.1514C>T	c.(1513-1515)cCg>cTg	p.P505L	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.P505L			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	505							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TCAGCAAGGCCGTCTCCTGCC	0.507																																						ENST00000367328.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53						c.(1513-1515)cCg>cTg		pleckstrin homology domain containing, family G (with RhoGef domain) member 1							87.0	81.0	83.0					6																	151151761		2203	4300	6503	SO:0001583	missense	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151151761C>T	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.1514C>T	6.37:g.151151761C>T	ENSP00000351318:p.Pro505Leu					PLEKHG1_ENST00000358517.2_Missense_Mutation_p.P505L	p.P505L	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	16	1826	+			505					Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	c.1514C>T	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	C	8.820	0.937384	0.18206	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	T;T	0.60040	0.22;0.22	4.5	3.47	0.39725	.	0.571154	0.19727	N	0.107441	T	0.24661	0.0598	L	0.40543	1.245	0.19575	N	0.999969	P;P;P	0.44006	0.824;0.824;0.824	B;B;B	0.27887	0.084;0.056;0.056	T	0.15263	-1.0443	10	0.56958	D	0.05	.	11.6673	0.51381	0.274:0.726:0.0:0.0	.	312;505;505	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	L	505	ENSP00000356297:P505L;ENSP00000351318:P505L	ENSP00000351318:P505L	P	+	2	0	PLEKHG1	151193454	0.002000	0.14202	0.006000	0.13384	0.318000	0.28184	1.422000	0.34826	2.202000	0.70862	0.555000	0.69702	CCG		0.507	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			14	24	0	0	0	1	0	14	24				
BRINP1	1620	broad.mit.edu	37	9	122004328	122004328	+	Silent	SNP	G	G	T			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:122004328G>T	ENST00000265922.3	-	4	1037	c.576C>A	c.(574-576)atC>atA	p.I192I	BRINP1_ENST00000373964.2_Silent_p.I192I	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	192	MACPF.				cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											GCTGTACCTTGATTGCTCCAG	0.483																																						ENST00000265922.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(574-576)atC>atA									165.0	139.0	148.0					9																	122004328		2203	4300	6503	SO:0001819	synonymous_variant	1620				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:122004328G>T	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.576C>A	9.37:g.122004328G>T						DBC1_ENST00000373964.2_Silent_p.I192I	p.I192I	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN			4	1037	-			192			MACPF.		Q6IPV6|Q6P1A0|Q8WU22	Silent	SNP	ENST00000265922.3	37	c.576C>A	CCDS6822.1																																																																																				0.483	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		48	45	1	0	3.39706e-21	1	4.75946e-21	48	45				
AMPD2	271	broad.mit.edu	37	1	110171389	110171389	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:110171389delC	ENST00000256578.3	+	12	2054	c.1694delC	c.(1693-1695)tccfs	p.S565fs	RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000342115.4_Frame_Shift_Del_p.S484fs|AMPD2_ENST00000393688.3_Frame_Shift_Del_p.S446fs|AMPD2_ENST00000358729.4_Frame_Shift_Del_p.S490fs|AMPD2_ENST00000528454.1_Frame_Shift_Del_p.S447fs|AMPD2_ENST00000528667.1_Frame_Shift_Del_p.S565fs	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	565					cell death (GO:0008219)|cyclic purine nucleotide metabolic process (GO:0052652)|energy homeostasis (GO:0097009)|IMP biosynthetic process (GO:0006188)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		CGCGTGCACTCCCCCAACGTG	0.647																																						ENST00000256578.3																			0				breast(1)|large_intestine(3)|ovary(2)|skin(1)	7						c.(1693-1695)tcfs		adenosine monophosphate deaminase 2							25.0	21.0	22.0					1																	110171389		2200	4296	6496	SO:0001589	frameshift_variant	271				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:110171389delC	S47833	CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1	1p13.3	2014-03-03	2010-02-10		ENSG00000116337	ENSG00000116337	3.5.4.6		469	protein-coding gene	gene with protein product	"""AMPD isoform L"""	102771	"""adenosine monophosphate deaminase 2 (isoform L)"""			1400401, 24482476	Standard	NM_004037		Approved	SPG63	uc009wfh.2	Q01433	OTTHUMG00000011649	ENST00000256578.3:c.1694delC	1.37:g.110171389delC	ENSP00000256578:p.Ser565fs					RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000393688.3_Frame_Shift_Del_p.S446fs|AMPD2_ENST00000342115.4_Frame_Shift_Del_p.S484fs|AMPD2_ENST00000358729.4_Frame_Shift_Del_p.S490fs|AMPD2_ENST00000528667.1_Frame_Shift_Del_p.S565fs|AMPD2_ENST00000528454.1_Frame_Shift_Del_p.S447fs	p.S565fs	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)	12	2054	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	565					B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Frame_Shift_Del	DEL	ENST00000256578.3	37	c.1694delC	CCDS805.1																																																																																				0.647	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390615.1			2	4						2	4	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158623181	158623181	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr1:158623181delC	ENST00000368147.4	-	22	3251	c.3071delG	c.(3070-3072)ggcfs	p.G1024fs		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1024	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGGGACAATGCCCTGATGATC	0.552																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(3070-3072)gcfs		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							88.0	90.0	89.0					1																	158623181		2048	4171	6219	SO:0001589	frameshift_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158623181delC	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3071delG	1.37:g.158623181delC	ENSP00000357129:p.Gly1024fs					SPTA1_ENST00000368147.3_Frame_Shift_Del_p.G1024fs	p.G1024fs	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			22	3251	-	all_hematologic(112;0.0378)		1024			SH3.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Frame_Shift_Del	DEL	ENST00000368147.4	37	c.3071delG	CCDS41423.1																																																																																				0.552	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		22	36						22	36	---	---	---	---
EIF2AK3	9451	broad.mit.edu	37	2	88857359	88857359	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:88857359delA	ENST00000303236.3	-	17	3547	c.3246delT	c.(3244-3246)tttfs	p.F1082fs	EIF2AK3_ENST00000419748.1_Frame_Shift_Del_p.F931fs|AC104134.2_ENST00000413234.1_RNA	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	1082					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			ovary(3)	3						TTTTTCCTGGAAAGTCCAAGT	0.458																																					GBM(138;671 1851 16235 39058 45249)	ENST00000303236.3																			0				ovary(3)	3						c.(3244-3246)ttfs		eukaryotic translation initiation factor 2-alpha kinase 3							235.0	223.0	227.0					2																	88857359		2203	4300	6503	SO:0001589	frameshift_variant	9451				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	g.chr2:88857359delA	AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.3246delT	2.37:g.88857359delA	ENSP00000307235:p.Phe1082fs					AC104134.2_ENST00000413234.1_RNA|EIF2AK3_ENST00000419748.1_Frame_Shift_Del_p.F931fs	p.F1082fs	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN			17	3547	-			1082					A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Frame_Shift_Del	DEL	ENST00000303236.3	37	c.3246delT	CCDS33241.1																																																																																				0.458	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836		60	76						60	76	---	---	---	---
BARD1	580	broad.mit.edu	37	2	215674167	215674167	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:215674167delG	ENST00000260947.4	-	1	261	c.127delC	c.(127-129)cgcfs	p.R43fs	AC072062.1_ENST00000607412.1_RNA|BARD1_ENST00000471787.1_5'UTR|BARD1_ENST00000449967.2_5'UTR	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	43	Interaction with BRCA1.				cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTCTCCAGGCGGTCGAGCGCG	0.701									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000260947.4																			0				NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(127-129)gcfs		BRCA1 associated RING domain 1							14.0	14.0	14.0					2																	215674167		2083	4116	6199	SO:0001589	frameshift_variant	580	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:215674167delG		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"""Ankyrin repeat domain containing"""	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.127delC	2.37:g.215674167delG	ENSP00000260947:p.Arg43fs					BARD1_ENST00000471787.1_5'UTR|BARD1_ENST00000449967.2_5'UTR	p.R43fs	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	1	261	-		Renal(323;0.0243)	43			Interaction with BRCA1.		F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Frame_Shift_Del	DEL	ENST00000260947.4	37	c.127delC	CCDS2397.1																																																																																				0.701	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256602.1	NM_000465		4	3						4	3	---	---	---	---
LOC728323	728323	broad.mit.edu	37	2	243056967	243056967	+	RNA	DEL	T	T	-			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr2:243056967delT	ENST00000456398.1	+	0	413																											CAGTGCTATCTTATGAAATAA	0.299																																						ENST00000456398.1																			0																																																			728323							g.chr2:243056967delT																													2.37:g.243056967delT														0	413	+									RNA	DEL	ENST00000456398.1	37																																																																																						0.299	AC093642.5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000322444.2			2	4						2	4	---	---	---	---
NEK11	79858	broad.mit.edu	37	3	130748712	130748712	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr3:130748712delG	ENST00000510769.1	+	2	413	c.160delG	c.(160-162)ggafs	p.G54fs	NEK11_ENST00000383366.4_Frame_Shift_Del_p.G54fs|NEK11_ENST00000356918.4_Frame_Shift_Del_p.G54fs|NEK11_ENST00000507910.1_Frame_Shift_Del_p.G54fs|NEK11_ENST00000511262.1_Frame_Shift_Del_p.G54fs|NEK11_ENST00000510688.1_Frame_Shift_Del_p.G54fs|NEK11_ENST00000508196.1_Frame_Shift_Del_p.G54fs|NEK11_ENST00000429253.2_Frame_Shift_Del_p.G54fs|NEK11_ENST00000412440.2_5'UTR					NIMA-related kinase 11											breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						AGCCAAACGAGGAGAGGAATT	0.418																																						ENST00000383366.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						c.(160-162)gafs		NIMA-related kinase 11							104.0	102.0	103.0					3																	130748712		2203	4300	6503	SO:0001589	frameshift_variant	79858				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr3:130748712delG	AK027148	CCDS3069.1, CCDS46915.1, CCDS54639.1	3q22.1	2012-11-15	2012-11-15		ENSG00000114670	ENSG00000114670			18593	protein-coding gene	gene with protein product		609779	"""NIMA (never in mitosis gene a)- related kinase 11"""				Standard	NM_024800		Approved	FLJ23495	uc003eny.3	Q8NG66	OTTHUMG00000159654	ENST00000510769.1:c.160delG	3.37:g.130748712delG	ENSP00000421549:p.Gly54fs					NEK11_ENST00000511262.1_Frame_Shift_Del_p.G54fs|NEK11_ENST00000412440.2_5'UTR|NEK11_ENST00000510769.1_Frame_Shift_Del_p.G54fs|NEK11_ENST00000356918.4_Frame_Shift_Del_p.G54fs|NEK11_ENST00000510688.1_Frame_Shift_Del_p.G54fs|NEK11_ENST00000508196.1_Frame_Shift_Del_p.G54fs|NEK11_ENST00000507910.1_Frame_Shift_Del_p.G54fs|NEK11_ENST00000429253.2_Frame_Shift_Del_p.G54fs	p.G54fs	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN			3	453	+			54			Protein kinase.			Frame_Shift_Del	DEL	ENST00000510769.1	37	c.160delG																																																																																					0.418	NEK11-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000356757.1	NM_024800		23	21						23	21	---	---	---	---
PACRGL	133015	broad.mit.edu	37	4	20711341	20711341	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:20711341delG	ENST00000503585.1	+	5	702	c.311delG	c.(310-312)tggfs	p.W104fs	PACRGL_ENST00000513459.1_Intron|PACRGL_ENST00000295290.8_Frame_Shift_Del_p.W104fs|PACRGL_ENST00000360916.5_Frame_Shift_Del_p.W104fs|PACRGL_ENST00000444671.2_Intron|PACRGL_ENST00000507634.1_Frame_Shift_Del_p.W104fs|PACRGL_ENST00000502938.1_Intron|PACRGL_ENST00000538990.1_Intron|PACRGL_ENST00000502374.1_Intron	NM_001258345.1	NP_001245274.1	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like	104				W -> R (in Ref. 1; BAC05381). {ECO:0000305}.						endometrium(2)|lung(7)|prostate(1)	10						AGATTACAGTGGGAATGTCCT	0.294																																						ENST00000360916.5																			0				endometrium(2)|lung(7)|prostate(1)	10						c.(310-312)tgfs		PARK2 co-regulated-like							127.0	132.0	130.0					4																	20711341		2203	4298	6501	SO:0001589	frameshift_variant	133015						binding	g.chr4:20711341delG	AK098692	CCDS3427.1, CCDS47034.1, CCDS58895.1, CCDS58896.1	4p15.31	2008-10-02	2008-10-02	2008-10-02	ENSG00000163138	ENSG00000163138			28442	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 28"""	C4orf28		12477932	Standard	NM_145048		Approved	MGC29898	uc010iek.3	Q8N7B6	OTTHUMG00000128550	ENST00000503585.1:c.311delG	4.37:g.20711341delG	ENSP00000423881:p.Trp104fs					PACRGL_ENST00000295290.8_Frame_Shift_Del_p.W104fs|PACRGL_ENST00000502374.1_Intron|PACRGL_ENST00000538990.1_Intron|PACRGL_ENST00000502938.1_Intron|PACRGL_ENST00000507634.1_Frame_Shift_Del_p.W104fs|PACRGL_ENST00000503585.1_Frame_Shift_Del_p.W104fs|PACRGL_ENST00000444671.2_Intron|PACRGL_ENST00000513459.1_Intron	p.W104fs	NM_145048.3	NP_659485.1	Q8N7B6	PACRL_HUMAN			5	702	+			104	W -> R (in Ref. 1; BAC05381).				B2RDB9|B4DFF8|B4DMN7|Q8TBA8	Frame_Shift_Del	DEL	ENST00000503585.1	37	c.311delG	CCDS58895.1																																																																																				0.294	PACRGL-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360321.2	NM_145048		15	21						15	21	---	---	---	---
CSN1S1	1446	broad.mit.edu	37	4	70808271	70808271	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr4:70808271delG	ENST00000246891.4	+	14	427	c.378delG	c.(376-378)atgfs	p.M126fs	CSN1S1_ENST00000507763.1_Frame_Shift_Del_p.M117fs|CSN1S1_ENST00000507772.1_Frame_Shift_Del_p.M118fs|CSN1S1_ENST00000444405.3_Frame_Shift_Del_p.M117fs|CSN1S1_ENST00000505782.1_Frame_Shift_Del_p.M110fs	NM_001890.1	NP_001881.1	P47710	CASA1_HUMAN	casein alpha s1	126						extracellular region (GO:0005576)|extracellular space (GO:0005615)	transporter activity (GO:0005215)			lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						TTCGCAGAATGAATGAAAACA	0.318																																						ENST00000246891.4																			0				lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(376-378)atfs		casein alpha s1							60.0	59.0	59.0					4																	70808271		1842	4081	5923	SO:0001589	frameshift_variant	1446					extracellular region	protein binding|transporter activity	g.chr4:70808271delG	X78416	CCDS47067.1, CCDS54769.1	4q21.1	2014-02-19	2003-01-24	2003-01-31	ENSG00000126545	ENSG00000126545			2445	protein-coding gene	gene with protein product		115450	"""casein, alpha"""	CASA, CSN1		9050925, 7619062	Standard	NM_001890		Approved		uc003hep.1	P47710	OTTHUMG00000160843	ENST00000246891.4:c.378delG	4.37:g.70808271delG	ENSP00000246891:p.Met126fs					CSN1S1_ENST00000505782.1_Frame_Shift_Del_p.M110fs|CSN1S1_ENST00000444405.3_Frame_Shift_Del_p.M117fs|CSN1S1_ENST00000507772.1_Frame_Shift_Del_p.M118fs|CSN1S1_ENST00000507763.1_Frame_Shift_Del_p.M117fs	p.M126fs	NM_001890.1	NP_001881.1	P47710	CASA1_HUMAN			14	427	+			126					A1A510|A1A511|E9PB60|Q4PNR5	Frame_Shift_Del	DEL	ENST00000246891.4	37	c.378delG	CCDS47067.1																																																																																				0.318	CSN1S1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362629.1			2	4						2	4	---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150925814	150925814	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr5:150925814delG	ENST00000261800.5	-	9	4886	c.4874delC	c.(4873-4875)ccafs	p.P1625fs		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1625	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGAGTATGTGGGGCATGATT	0.483																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(4873-4875)cafs		FAT atypical cadherin 2							116.0	111.0	113.0					5																	150925814		2203	4300	6503	SO:0001589	frameshift_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150925814delG	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.4874delC	5.37:g.150925814delG	ENSP00000261800:p.Pro1625fs						p.P1625fs	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	4886	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1625			Cadherin 14.		O75091|Q9NSR7	Frame_Shift_Del	DEL	ENST00000261800.5	37	c.4874delC	CCDS4317.1																																																																																				0.483	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		18	13						18	13	---	---	---	---
TNXB	7148	broad.mit.edu	37	6	32049365	32049366	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr6:32049365_32049366insG	ENST00000375244.3	-	10	4022_4023	c.3821_3822insC	c.(3820-3822)ccafs	p.P1274fs	RNA5SP206_ENST00000516703.1_RNA|TNXB_ENST00000375247.2_Frame_Shift_Ins_p.P1274fs			P22105	TENX_HUMAN	tenascin XB	1361	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCAAGGAGTCTGGGGTCACGCC	0.619																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(3820-3822)cgafs		tenascin XB																																				SO:0001589	frameshift_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32049365_32049366insG	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.3822dupC	6.37:g.32049369_32049369dupG	ENSP00000364393:p.Pro1274fs					TNXB_ENST00000375247.2_Frame_Shift_Ins_p.R1274fs	p.R1274fs			P22105	TENX_HUMAN			10	4022_4023	-			1361			Fibronectin type-III 5.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Frame_Shift_Ins	INS	ENST00000375244.3	37	c.3821_3822insC																																																																																					0.619	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		8	8						8	8	---	---	---	---
EPHB4	2050	broad.mit.edu	37	7	100410581	100410581	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:100410581delC	ENST00000358173.3	-	12	2374	c.1906delG	c.(1906-1908)gccfs	p.A636fs	EPHB4_ENST00000477446.1_5'Flank|EPHB4_ENST00000360620.3_Frame_Shift_Del_p.A636fs	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	636	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					TTCCCTGGGGCCTTGAGCCGC	0.637																																					GBM(200;2113 3072 25865 52728)	ENST00000358173.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47						c.(1906-1908)ccfs		EPH receptor B4							105.0	110.0	108.0					7																	100410581		2203	4300	6503	SO:0001589	frameshift_variant	2050				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:100410581delC	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.1906delG	7.37:g.100410581delC	ENSP00000350896:p.Ala636fs					EPHB4_ENST00000360620.3_Frame_Shift_Del_p.A636fs	p.A636fs	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN			12	2374	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		636			Protein kinase.		B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Frame_Shift_Del	DEL	ENST00000358173.3	37	c.1906delG	CCDS5706.1																																																																																				0.637	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		49	102						49	102	---	---	---	---
DNAJC2	27000	broad.mit.edu	37	7	102956305	102956305	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:102956305delT	ENST00000379263.3	-	15	1792	c.1542delA	c.(1540-1542)aaafs	p.K514fs	DNAJC2_ENST00000249270.7_Frame_Shift_Del_p.K461fs|PMPCB_ENST00000420236.2_Intron	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	514					'de novo' cotranslational protein folding (GO:0051083)|chromatin modification (GO:0016568)|DNA replication (GO:0006260)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|Hsp70 protein binding (GO:0030544)|poly(A) RNA binding (GO:0044822)|ubiquitin binding (GO:0043130)	p.K472K(1)|p.K461K(1)		endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						TTATGTCATCTTTTTGATGAG	0.294																																						ENST00000379263.3																			2	Substitution - coding silent(2)	p.K472K(1)|p.K461K(1)	kidney(2)	endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						c.(1540-1542)aafs		DnaJ (Hsp40) homolog, subfamily C, member 2							173.0	150.0	157.0					7																	102956305		1819	4074	5893	SO:0001589	frameshift_variant	27000				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding	g.chr7:102956305delT	X98260	CCDS43628.1, CCDS47679.1	7q22-q32	2011-09-02	2008-07-01	2008-07-01	ENSG00000105821	ENSG00000105821		"""Heat shock proteins / DNAJ (HSP40)"""	13192	protein-coding gene	gene with protein product		605502	"""zuotin related factor 1"""	ZRF1		8885239	Standard	NM_001129887		Approved	MPP11, MPHOSPH11, ZUO1, zuotin	uc003vbo.3	Q99543	OTTHUMG00000157202	ENST00000379263.3:c.1542delA	7.37:g.102956305delT	ENSP00000368565:p.Lys514fs					DNAJC2_ENST00000249270.7_Frame_Shift_Del_p.K461fs|PMPCB_ENST00000420236.2_Intron	p.K514fs	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN			15	1792	-			514					A4VCI0|Q9BVX1	Frame_Shift_Del	DEL	ENST00000379263.3	37	c.1542delA	CCDS43628.1																																																																																				0.294	DNAJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347891.1			13	9						13	9	---	---	---	---
KRBA1	84626	broad.mit.edu	37	7	149431122	149431123	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr7:149431122_149431123insG	ENST00000485033.2	+	15	2896_2897	c.2896_2897insG	c.(2896-2898)tggfs	p.W966fs	KRBA1_ENST00000319551.8_Frame_Shift_Ins_p.W966fs|KRBA1_ENST00000255992.10_Frame_Shift_Ins_p.W1026fs|KRBA1_ENST00000479560.1_3'UTR			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	1027	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGACCCGAGATGGGGGGCGCAT	0.663																																						ENST00000255992.10																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27						c.(3076-3078)gggfs		KRAB-A domain containing 1																																				SO:0001589	frameshift_variant	84626							g.chr7:149431122_149431123insG	AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"""-"""	22228	protein-coding gene	gene with protein product			"""KRAB A domain containing 1"""				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.2902dupG	7.37:g.149431128_149431128dupG	ENSP00000420112:p.Trp966fs					KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000319551.8_Frame_Shift_Ins_p.G966fs|KRBA1_ENST00000485033.2_Frame_Shift_Ins_p.G966fs	p.G1026fs	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		18	3475_3476	+	Melanoma(164;0.165)|Ovarian(565;0.177)		1027					A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Frame_Shift_Ins	INS	ENST00000485033.2	37	c.3076_3077insG																																																																																					0.663	KRBA1-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000349841.3	NM_032534		6	6						6	6	---	---	---	---
PTPDC1	138639	broad.mit.edu	37	9	96863913	96863922	+	Frame_Shift_Del	DEL	ATGCAGCTTG	ATGCAGCTTG	-			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr9:96863913_96863922delATGCAGCTTG	ENST00000375360.3	+	8	2257_2266	c.1917_1926delATGCAGCTTG	c.(1915-1926)ctatgcagcttgfs	p.LCSL639fs	PTPDC1_ENST00000467049.1_3'UTR|PTPDC1_ENST00000288976.3_Frame_Shift_Del_p.LCSL691fs	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	639					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						CTTTCATCCTATGCAGCTTGATGTGGTCTT	0.476																																						ENST00000375360.3																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(1915-1926)ctfs		protein tyrosine phosphatase domain containing 1																																				SO:0001589	frameshift_variant	138639						protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:96863913_96863922delATGCAGCTTG	BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	30184	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase PTP9Q22"""					14702039	Standard	NM_152422		Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000375360.3:c.1917_1926delATGCAGCTTG	9.37:g.96863913_96863922delATGCAGCTTG	ENSP00000364509:p.Leu639fs					PTPDC1_ENST00000467049.1_3'UTR|PTPDC1_ENST00000288976.3_Frame_Shift_Del_p.LCSL691fs	p.LCSL639fs	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN			8	2257_2266	+			639					Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Frame_Shift_Del	DEL	ENST00000375360.3	37	c.1917_1926delATGCAGCTTG	CCDS6707.1																																																																																				0.476	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1	NM_177995, NM_152422		10	131						10	131	---	---	---	---
CAMKK2	10645	broad.mit.edu	37	12	121707362	121707362	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr12:121707362delA	ENST00000324774.5	-	4	1370	c.542delT	c.(541-543)ttgfs	p.L181fs	CAMKK2_ENST00000392473.2_Frame_Shift_Del_p.L181fs|CAMKK2_ENST00000337174.3_Frame_Shift_Del_p.L181fs|CAMKK2_ENST00000347034.2_Frame_Shift_Del_p.L181fs|CAMKK2_ENST00000402834.4_Frame_Shift_Del_p.L181fs|CAMKK2_ENST00000535524.1_Intron|CAMKK2_ENST00000446440.2_Frame_Shift_Del_p.L181fs|CAMKK2_ENST00000538733.1_Frame_Shift_Del_p.L181fs|CAMKK2_ENST00000392474.2_Frame_Shift_Del_p.L181fs|CAMKK2_ENST00000412367.2_Frame_Shift_Del_p.L181fs|CAMKK2_ENST00000404169.3_Frame_Shift_Del_p.L181fs	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	181	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium-mediated signaling (GO:0019722)|MAPK cascade (GO:0000165)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ATTGTAGGCCAACTTGACGAC	0.473																																						ENST00000324774.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(541-543)tgfs		calcium/calmodulin-dependent protein kinase kinase 2, beta							164.0	139.0	148.0					12																	121707362		2203	4300	6503	SO:0001589	frameshift_variant	10645				calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity	g.chr12:121707362delA	AF101264	CCDS9216.1, CCDS9217.1, CCDS9218.1, CCDS9219.1, CCDS44999.1, CCDS53837.1, CCDS58283.1	12q24.2	2002-08-13				ENSG00000110931			1470	protein-coding gene	gene with protein product		615002				9662074	Standard	NM_172226		Approved	CAMKK, KIAA0787, CAMKKB, MGC15254	uc001tzu.3	Q96RR4		ENST00000324774.5:c.542delT	12.37:g.121707362delA	ENSP00000312741:p.Leu181fs					CAMKK2_ENST00000337174.3_Frame_Shift_Del_p.L181fs|CAMKK2_ENST00000347034.2_Frame_Shift_Del_p.L181fs|CAMKK2_ENST00000412367.2_Frame_Shift_Del_p.L181fs|CAMKK2_ENST00000402834.4_Frame_Shift_Del_p.L181fs|CAMKK2_ENST00000392473.2_Frame_Shift_Del_p.L181fs|CAMKK2_ENST00000392474.2_Frame_Shift_Del_p.L181fs|CAMKK2_ENST00000535524.1_Intron|CAMKK2_ENST00000538733.1_Frame_Shift_Del_p.L181fs|CAMKK2_ENST00000446440.2_Frame_Shift_Del_p.L181fs|CAMKK2_ENST00000404169.3_Frame_Shift_Del_p.L181fs	p.L181fs	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN			4	1370	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		181			Protein kinase.		A8K7Q7|O94883|Q8IUG2|Q8IUG3|Q8N3I4|Q8WY03|Q8WY04|Q8WY05|Q8WY06|Q96RP1|Q96RP2|Q96RR3|Q9BWE9|Q9UER3|Q9UES2|Q9Y5N2	Frame_Shift_Del	DEL	ENST00000324774.5	37	c.542delT	CCDS9216.1																																																																																				0.473	CAMKK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402563.1	NM_172226		2	4						2	4	---	---	---	---
NAE1	8883	broad.mit.edu	37	16	66839679	66839679	+	Splice_Site	DEL	C	C	-			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr16:66839679delC	ENST00000290810.3	-	19	1593		c.e19+1		NAE1_ENST00000379463.2_Splice_Site|NAE1_ENST00000359087.4_Splice_Site|NAE1_ENST00000394074.2_Splice_Site			Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1						mitotic DNA replication checkpoint (GO:0033314)|neuron apoptotic process (GO:0051402)|protein neddylation (GO:0045116)|regulation of apoptotic process (GO:0042981)|regulation of neuron apoptotic process (GO:0043523)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|protein heterodimerization activity (GO:0046982)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	ATGGAACTCACCCCCCAAGAA	0.403																																						ENST00000379463.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.e20+1		NEDD8 activating enzyme E1 subunit 1	Adenosine triphosphate(DB00171)						79.0	74.0	76.0					16																	66839679		2200	4300	6500	SO:0001630	splice_region_variant	8883				apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity	g.chr16:66839679delC	U50939	CCDS10820.1, CCDS42171.1, CCDS42172.1, CCDS67050.1	16q22	2013-09-26	2007-12-11	2007-12-11	ENSG00000159593	ENSG00000159593		"""Ubiquitin-like modifier activating enzymes"""	621	protein-coding gene	gene with protein product		603385	"""amyloid beta precursor protein binding protein 1, 59kDa"""	APPBP1		8626687, 12740388	Standard	XM_005256215		Approved	ula-1	uc002eqf.3	Q13564	OTTHUMG00000137513	ENST00000290810.3:c.1495+1G>-	16.37:g.66839679delC						NAE1_ENST00000359087.4_Splice_Site|NAE1_ENST00000290810.3_Splice_Site|NAE1_ENST00000394074.2_Splice_Site		NM_001018159.1	NP_001018169.1	Q13564	ULA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	20	1670	-		Ovarian(137;0.0563)						A6NCK0|A6NFN4|A8MU28|B2R700|B3KUP9	Splice_Site	DEL	ENST00000290810.3	37		CCDS10820.1																																																																																				0.403	NAE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268832.1	NM_003905	Intron	7	11						7	11	---	---	---	---
PPFIA3	8541	broad.mit.edu	37	19	49641518	49641518	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chr19:49641518delG	ENST00000334186.4	+	16	2259	c.1910delG	c.(1909-1911)cggfs	p.R637fs	PPFIA3_ENST00000602351.1_Frame_Shift_Del_p.R637fs	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	637					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		CTGGAGAGTCGGGTGTCCAGC	0.642																																						ENST00000334186.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35						c.(1909-1911)cgfs		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3							31.0	33.0	32.0					19																	49641518		2203	4300	6503	SO:0001589	frameshift_variant	8541					cell surface|cytoplasm	protein binding	g.chr19:49641518delG	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.1910delG	19.37:g.49641518delG	ENSP00000335614:p.Arg637fs					PPFIA3_ENST00000602351.1_Frame_Shift_Del_p.R637fs	p.R637fs	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	16	2259	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	637					A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Frame_Shift_Del	DEL	ENST00000334186.4	37	c.1910delG	CCDS12758.1																																																																																				0.642	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660		13	26						13	26	---	---	---	---
CYSLTR1	10800	broad.mit.edu	37	X	77529023	77529024	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CN-A63W-01A-11D-A30E-08	TCGA-CN-A63W-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e427004c-f7fc-4631-8c7e-79f8fcd52c07	bfd5df8f-d8b8-466c-b85a-72baa52802a2	g.chrX:77529023_77529024delCA	ENST00000373304.3	-	3	512_513	c.220_221delTG	c.(220-222)tgcfs	p.C74fs		NM_001282187.1|NM_001282188.1|NM_006639.3	NP_001269116.1|NP_001269117.1|NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	74					defense response (GO:0006952)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|respiratory gaseous exchange (GO:0007585)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene receptor activity (GO:0004974)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	AGGCAGTGTGCACACACAAAGT	0.436																																						ENST00000373304.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14						c.(220-222)cfs		cysteinyl leukotriene receptor 1	Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)																																			SO:0001589	frameshift_variant	10800				elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity	g.chrX:77529023_77529024delCA	AF119711	CCDS14439.1	Xq13-q21	2012-08-10			ENSG00000173198	ENSG00000173198		"""GPCR / Class A : Leukotriene receptors"""	17451	protein-coding gene	gene with protein product		300201				10391245, 10462554	Standard	NM_006639		Approved	CysLT1, CysLT(1), CYSLT1R	uc004edb.3	Q9Y271	OTTHUMG00000021889	ENST00000373304.3:c.220_221delTG	X.37:g.77529029_77529030delCA	ENSP00000362401:p.Cys74fs						p.C74fs	NM_006639.2	NP_006630.1	Q9Y271	CLTR1_HUMAN			3	512_513	-			74					B2R954|D3DTE4|Q5JS94|Q8IV19	Frame_Shift_Del	DEL	ENST00000373304.3	37	c.220_221delTG	CCDS14439.1																																																																																				0.436	CYSLTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057315.1			24	10						24	10	---	---	---	---
