#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
CR1	1378	broad.mit.edu	37	1	207787753	207787753	+	Nonsense_Mutation	SNP	C	C	T	rs55749440		TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr1:207787753C>T	ENST00000367049.4	+	40	6580	c.6580C>T	c.(6580-6582)Cga>Tga	p.R2194*	CR1_ENST00000367051.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000400960.2_Nonsense_Mutation_p.R1744*|CR1_ENST00000367053.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367052.1_Nonsense_Mutation_p.R1744*	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1744					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)	p.R1749*(9)|p.R2194*(9)|p.R1744*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTTTAGGTTCCGATTAAAAGG	0.423																																						ENST00000367049.4																			19	Substitution - Nonsense(19)	p.R1749*(9)|p.R2194*(9)|p.R1744*(1)	lung(6)|endometrium(6)|prostate(3)|kidney(2)|central_nervous_system(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(6580-6582)Cga>Tga		complement component (3b/4b) receptor 1 (Knops blood group)							103.0	94.0	97.0					1																	207787753		1868	4107	5975	SO:0001587	stop_gained	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207787753C>T	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.6580C>T	1.37:g.207787753C>T	ENSP00000356016:p.Arg2194*					CR1_ENST00000367052.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000400960.2_Nonsense_Mutation_p.R1744*|CR1_ENST00000367051.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367053.1_Nonsense_Mutation_p.R1744*	p.R2194*	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN			40	6580	+			1744					Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Nonsense_Mutation	SNP	ENST00000367049.4	37	c.6580C>T	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	C	44	11.182593	0.99528	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	.	.	.	4.29	2.39	0.29439	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.5152	0.27596	0.0:0.7891:0.0:0.2109	rs55749440	.	.	.	X	1744;1744;1744;1744;2194	.	ENSP00000356016:R2194X	R	+	1	2	CR1	205854376	0.129000	0.22400	0.370000	0.25965	0.352000	0.29268	0.213000	0.17521	0.518000	0.28383	0.436000	0.28706	CGA		0.423	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		4	71	0	0	0	1	0	4	71				
ADNP	23394	broad.mit.edu	37	20	49510462	49510462	+	Silent	SNP	G	G	C			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr20:49510462G>C	ENST00000396029.3	-	5	1356	c.789C>G	c.(787-789)ccC>ccG	p.P263P	ADNP_ENST00000371602.4_Silent_p.P263P|ADNP_ENST00000396032.3_Silent_p.P263P|ADNP_ENST00000349014.3_Silent_p.P263P	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	263					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						GTTTGGATCGGGGAACCACTA	0.488																																						ENST00000396029.3																			0				NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						c.(787-789)ccC>ccG		activity-dependent neuroprotector homeobox							113.0	92.0	99.0					20																	49510462		2203	4300	6503	SO:0001819	synonymous_variant	23394					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:49510462G>C	AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"""Homeoboxes / ZF class"""	15766	protein-coding gene	gene with protein product	"""ADNP homeobox 1"""	611386	"""activity-dependent neuroprotector"""			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.789C>G	20.37:g.49510462G>C						ADNP_ENST00000349014.3_Silent_p.P263P|ADNP_ENST00000371602.4_Silent_p.P263P|ADNP_ENST00000396032.3_Silent_p.P263P	p.P263P	NM_015339.2	NP_056154.1	Q9H2P0	ADNP_HUMAN			5	1356	-			263					E1P5Y2|O94881|Q5BKU2|Q9UG34	Silent	SNP	ENST00000396029.3	37	c.789C>G	CCDS13433.1																																																																																				0.488	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	NM_181442		5	67	0	0	0	1	0	5	67				
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs571530750	byFrequency	TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr6:26422353C>T	ENST00000466808.2	+	0	7							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622													C|||	7	0.00139776	0.0023	0.0	5008	,	,		16376	0.001		0.0	False		,,,				2504	0.0031					ENST00000466808.2																			2	Substitution - Missense(2)	p.P3S(2)	endometrium(1)|kidney(1)																																																0							g.chr6:26422353C>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422353C>T														0	7	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.622	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		6	195	0	0	0	1	0	6	195				
CERS4	79603	broad.mit.edu	37	19	8315968	8315968	+	Missense_Mutation	SNP	C	C	G	rs571764774		TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr19:8315968C>G	ENST00000251363.5	+	3	308	c.8C>G	c.(7-9)tCc>tGc	p.S3C	CERS4_ENST00000559336.1_Missense_Mutation_p.S3C|CERS4_ENST00000558331.1_Intron|CERS4_ENST00000559450.1_Missense_Mutation_p.S3C|CERS4_ENST00000595722.1_Intron	NM_024552.2	NP_078828.2	Q9HA82	CERS4_HUMAN	ceramide synthase 4	3					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										AGAATGCTGTCCAGTTTCAAC	0.577																																						ENST00000251363.5																			0											c.(7-9)tCc>tGc		ceramide synthase 4							236.0	237.0	237.0					19																	8315968		2203	4300	6503	SO:0001583	missense	79603					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr19:8315968C>G		CCDS12197.1	19p13.2	2014-09-11	2011-07-08	2011-07-08	ENSG00000090661	ENSG00000090661		"""Homeoboxes / CERS class"""	23747	protein-coding gene	gene with protein product		615334	"""LAG1 longevity assurance homolog 4 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 4"""	LASS4			Standard	NM_024552		Approved	FLJ12089, Trh1	uc002mjg.3	Q9HA82	OTTHUMG00000172570	ENST00000251363.5:c.8C>G	19.37:g.8315968C>G	ENSP00000251363:p.Ser3Cys					CERS4_ENST00000559336.1_Missense_Mutation_p.S3C|CERS4_ENST00000558331.1_Intron|CERS4_ENST00000595722.1_Intron|CERS4_ENST00000559450.1_Missense_Mutation_p.S3C	p.S3C	NM_024552.2	NP_078828.2	Q9HA82	CERS4_HUMAN			3	308	+			3					D6W665	Missense_Mutation	SNP	ENST00000251363.5	37	c.8C>G	CCDS12197.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.548456	0.27652	.	.	ENSG00000090661	ENST00000251363	T	0.61742	0.08	4.35	3.25	0.37280	.	1.351300	0.04450	N	0.372380	T	0.69833	0.3155	M	0.77313	2.365	0.22754	N	0.998771	D;D	0.65815	0.995;0.989	P;P	0.52672	0.706;0.63	T	0.53982	-0.8361	10	0.38643	T	0.18	-32.2283	9.5788	0.39475	0.208:0.792:0.0:0.0	.	3;3	Q53HF9;Q9HA82	.;CERS4_HUMAN	C	3	ENSP00000251363:S3C	ENSP00000251363:S3C	S	+	2	0	CERS4	8221968	0.867000	0.29959	0.968000	0.41197	0.190000	0.23558	1.777000	0.38604	1.983000	0.57843	0.557000	0.71058	TCC		0.577	CERS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419200.1	NM_024552		5	452	0	0	0	1	0	5	452				
ZFHX3	463	broad.mit.edu	37	16	72830938	72830938	+	Silent	SNP	G	G	A			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr16:72830938G>A	ENST00000268489.5	-	9	6315	c.5643C>T	c.(5641-5643)gtC>gtT	p.V1881V	ZFHX3_ENST00000397992.5_Silent_p.V967V	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1881					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TTTCTTTGATGACCAATTTGT	0.542																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(5641-5643)gtC>gtT		zinc finger homeobox 3							87.0	91.0	90.0					16																	72830938		2198	4300	6498	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72830938G>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.5643C>T	16.37:g.72830938G>A						ZFHX3_ENST00000397992.5_Silent_p.V967V	p.V1881V	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	6315	-		Ovarian(137;0.13)	1881					D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.5643C>T	CCDS10908.1																																																																																				0.542	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		24	111	0	0	0	1	0	24	111				
DRP2	1821	broad.mit.edu	37	X	100510212	100510212	+	Missense_Mutation	SNP	T	T	A			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chrX:100510212T>A	ENST00000395209.3	+	20	2747	c.2220T>A	c.(2218-2220)aaT>aaA	p.N740K	DRP2_ENST00000541709.1_Missense_Mutation_p.N662K|DRP2_ENST00000402866.1_Missense_Mutation_p.N740K|DRP2_ENST00000538510.1_Missense_Mutation_p.N740K	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	740					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CCTTCTTTAATGACAGCTTGT	0.463																																						ENST00000395209.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						c.(2218-2220)aaT>aaA		dystrophin related protein 2							173.0	146.0	155.0					X																	100510212		2203	4300	6503	SO:0001583	missense	1821				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	g.chrX:100510212T>A	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.2220T>A	X.37:g.100510212T>A	ENSP00000378635:p.Asn740Lys					DRP2_ENST00000541709.1_Missense_Mutation_p.N662K|DRP2_ENST00000402866.1_Missense_Mutation_p.N740K|DRP2_ENST00000538510.1_Missense_Mutation_p.N740K	p.N740K	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN			20	2747	+			740					A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	ENST00000395209.3	37	c.2220T>A	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	T	13.18	2.160237	0.38119	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	4.77	4.77	0.60923	.	0.115101	0.64402	D	0.000020	T	0.79610	0.4475	M	0.65498	2.005	0.35455	D	0.796015	B	0.26400	0.148	B	0.24155	0.051	T	0.82323	-0.0514	10	0.62326	D	0.03	-13.7593	8.7564	0.34648	0.171:0.0:0.0:0.8289	.	740	Q13474	DRP2_HUMAN	K	740;740;662;740	ENSP00000385038:N740K;ENSP00000378635:N740K;ENSP00000444752:N662K;ENSP00000441051:N740K	ENSP00000378635:N740K	N	+	3	2	DRP2	100396868	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.108000	0.41854	1.764000	0.52075	0.381000	0.24937	AAT		0.463	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939		7	222	0	0	0	1	0	7	222				
GAL3ST2	64090	broad.mit.edu	37	2	242742868	242742868	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr2:242742868C>T	ENST00000192314.6	+	4	615	c.484C>T	c.(484-486)Cgg>Tgg	p.R162W	AC114730.5_ENST00000437438.1_RNA	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	162					biosynthetic process (GO:0009058)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		CCCCGCCTTCCGGGGCGCCCC	0.602																																						ENST00000192314.6																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14						c.(484-486)Cgg>Tgg		galactose-3-O-sulfotransferase 2							29.0	30.0	30.0					2																	242742868		2202	4298	6500	SO:0001583	missense	64090				biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity	g.chr2:242742868C>T	AB040610	CCDS33427.1	2q37.2	2014-05-19			ENSG00000154252	ENSG00000154252		"""Sulfotransferases, membrane-bound"""	24869	protein-coding gene	gene with protein product		608237				11029462	Standard	NM_022134		Approved	GP3ST	uc002wcj.1	Q9H3Q3	OTTHUMG00000151473	ENST00000192314.6:c.484C>T	2.37:g.242742868C>T	ENSP00000192314:p.Arg162Trp						p.R162W	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)	4	615	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	162					Q17RK0|Q57Z52	Missense_Mutation	SNP	ENST00000192314.6	37	c.484C>T	CCDS33427.1	.	.	.	.	.	.	.	.	.	.	c	16.21	3.057735	0.55325	.	.	ENSG00000154252	ENST00000192314	T	0.16196	2.36	3.86	-0.825	0.10809	.	1.159560	0.06386	N	0.716150	T	0.31888	0.0811	M	0.77486	2.375	0.09310	N	1	D	0.56746	0.977	P	0.56042	0.79	T	0.20338	-1.0278	10	0.72032	D	0.01	-21.2259	4.0026	0.09587	0.4789:0.3334:0.0992:0.0884	.	162	Q9H3Q3	G3ST2_HUMAN	W	162	ENSP00000192314:R162W	ENSP00000192314:R162W	R	+	1	2	GAL3ST2	242391541	0.000000	0.05858	0.040000	0.18447	0.023000	0.10783	0.117000	0.15583	-0.333000	0.08476	0.455000	0.32223	CGG		0.602	GAL3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322792.1	NM_022134		6	23	0	0	0	1	0	6	23				
ZAN	7455	broad.mit.edu	37	7	100349694	100349694	+	RNA	SNP	G	G	A	rs13241331	byFrequency	TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr7:100349694G>A	ENST00000348028.3	+	0	2131				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AAAACCCACCGTCCCCACAGA	0.517													g|||	4	0.000798722	0.0	0.0014	5008	,	,		15252	0.001		0.001	False		,,,				2504	0.001					ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)		G	ILE/VAL,ILE/VAL	0,3774		0,0,1887	208.0	233.0	225.0		1966,1966	-3.9	0.0	7	dbSNP_121	225	1,8235		0,1,4117	no	missense,missense	ZAN	NM_173059.1,NM_003386.1	29,29	0,1,6004	AA,AG,GG		0.0121,0.0,0.0083	benign,benign	656/2722,656/2813	100349694	1,12009	1887	4118	6005			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100349694G>A	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100349694G>A						ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	2114	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	g	3.588	-0.084109	0.07097	0.0	1.21E-4	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.62232	0.04;0.04;0.04	2.65	-3.92	0.04155	.	.	.	.	.	T	0.37073	0.0990	N	0.12569	0.235	0.09310	N	0.999999	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.12734	-1.0536	9	0.45353	T	0.12	.	6.1335	0.20219	0.6317:0.0:0.2198:0.1484	rs13241331;rs13241331	656;656	F5H0T8;Q9Y493	.;ZAN_HUMAN	I	656	ENSP00000445943:V656I;ENSP00000445091:V656I;ENSP00000444427:V656I	ENSP00000423579:V656I	V	+	1	0	ZAN	100187630	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.561000	0.00430	-1.204000	0.02648	-2.111000	0.00353	GTC		0.517	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		5	137	0	0	0	1	0	5	137				
ZNF91	7644	broad.mit.edu	37	19	23544867	23544867	+	Missense_Mutation	SNP	T	T	C			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr19:23544867T>C	ENST00000300619.7	-	4	1119	c.914A>G	c.(913-915)cAt>cGt	p.H305R	ZNF91_ENST00000397082.2_Missense_Mutation_p.H273R|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	305					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)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGTTGAAGAATGGCTAAAAGC	0.413																																						ENST00000300619.7																			0											c.(913-915)cAt>cGt		zinc finger protein 91							78.0	82.0	81.0					19																	23544867		2175	4288	6463	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544867T>C	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.914A>G	19.37:g.23544867T>C	ENSP00000300619:p.His305Arg					ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.H273R	p.H305R	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	1119	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	305					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.914A>G	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	T	0.014	-1.588219	0.00872	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.17691	2.26;2.26	2.03	0.954	0.19595	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05640	0.0148	N	0.04043	-0.29	0.09310	N	1	B;B	0.26081	0.116;0.141	B;B	0.15484	0.007;0.013	T	0.41251	-0.9519	9	0.07030	T	0.85	.	6.7777	0.23628	0.0:0.1365:0.0:0.8635	.	273;305	Q05481-2;Q05481	.;ZNF91_HUMAN	R	305;273	ENSP00000300619:H305R;ENSP00000380272:H273R	ENSP00000300619:H305R	H	-	2	0	ZNF91	23336707	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.802000	0.00184	-0.005000	0.14395	-1.601000	0.00813	CAT		0.413	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		4	113	0	0	0	1	0	4	113				
RB1CC1	9821	broad.mit.edu	37	8	53571499	53571499	+	Missense_Mutation	SNP	T	T	C			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr8:53571499T>C	ENST00000025008.5	-	13	2250	c.1727A>G	c.(1726-1728)gAt>gGt	p.D576G	RB1CC1_ENST00000539297.1_Missense_Mutation_p.D576G|RB1CC1_ENST00000435644.2_Missense_Mutation_p.D576G|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	576					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TAATGAAATATCTGGAAGTTC	0.289																																					GBM(180;1701 2102 13475 42023 52570)	ENST00000025008.5																			0				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(1726-1728)gAt>gGt		RB1-inducible coiled-coil 1							38.0	39.0	38.0					8																	53571499		2203	4299	6502	SO:0001583	missense	9821				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr8:53571499T>C	AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.1727A>G	8.37:g.53571499T>C	ENSP00000025008:p.Asp576Gly					RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.D576G|RB1CC1_ENST00000539297.1_Missense_Mutation_p.D576G	p.D576G	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN			13	2250	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	576					Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	ENST00000025008.5	37	c.1727A>G	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.131202	0.77549	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.15834	2.39;2.39;2.39	5.13	5.13	0.70059	.	0.057853	0.64402	D	0.000002	T	0.39358	0.1075	M	0.63428	1.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.11641	-1.0579	10	0.46703	T	0.11	-21.7051	15.2474	0.73517	0.0:0.0:0.0:1.0	.	576;576	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	G	576	ENSP00000025008:D576G;ENSP00000396067:D576G;ENSP00000445960:D576G	ENSP00000025008:D576G	D	-	2	0	RB1CC1	53734052	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.032000	0.70918	2.064000	0.61679	0.460000	0.39030	GAT		0.289	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		10	30	0	0	0	1	0	10	30				
WDR72	256764	broad.mit.edu	37	15	53815440	53815440	+	Nonsense_Mutation	SNP	A	A	T			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr15:53815440A>T	ENST00000396328.1	-	19	3467	c.3228T>A	c.(3226-3228)tgT>tgA	p.C1076*	WDR72_ENST00000559418.1_Nonsense_Mutation_p.C1086*|WDR72_ENST00000557913.1_Nonsense_Mutation_p.C1073*|WDR72_ENST00000360509.5_Nonsense_Mutation_p.C1076*|WDR72_ENST00000567224.1_5'UTR	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	1076										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CTTCCAAGGCACATCTGTCAG	0.458																																						ENST00000396328.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71						c.(3226-3228)tgT>tgA		WD repeat domain 72							192.0	186.0	188.0					15																	53815440		2194	4293	6487	SO:0001587	stop_gained	256764							g.chr15:53815440A>T	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.3228T>A	15.37:g.53815440A>T	ENSP00000379619:p.Cys1076*					WDR72_ENST00000360509.5_Nonsense_Mutation_p.C1076*|WDR72_ENST00000567224.1_5'UTR|WDR72_ENST00000557913.1_Nonsense_Mutation_p.C1073*|WDR72_ENST00000559418.1_Nonsense_Mutation_p.C1086*	p.C1076*	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	19	3467	-			1076					Q7Z3I3|Q8N8X2	Nonsense_Mutation	SNP	ENST00000396328.1	37	c.3228T>A	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	A	39	7.517358	0.98332	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	.	.	.	6.17	1.34	0.21922	.	0.311666	0.28420	N	0.015403	.	.	.	.	.	.	0.54753	D	0.999985	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.4536	0.21918	0.6233:0.1185:0.2582:0.0	.	.	.	.	X	1076	.	ENSP00000353699:C1076X	C	-	3	2	WDR72	51602732	1.000000	0.71417	0.997000	0.53966	0.809000	0.45718	0.998000	0.29744	-0.018000	0.14079	-0.316000	0.08728	TGT		0.458	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		61	208	0	0	0	1	0	61	208				
ATP4A	495	broad.mit.edu	37	19	36051822	36051822	+	Missense_Mutation	SNP	T	T	C			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr19:36051822T>C	ENST00000262623.3	-	5	461	c.433A>G	c.(433-435)Atc>Gtc	p.I145V		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	145					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	ATGAGAGCGATTGCCAGGTAC	0.577																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(433-435)Atc>Gtc		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						122.0	105.0	111.0					19																	36051822		2203	4300	6503	SO:0001583	missense	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36051822T>C		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.433A>G	19.37:g.36051822T>C	ENSP00000262623:p.Ile145Val						p.I145V	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		5	461	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		145					O00738	Missense_Mutation	SNP	ENST00000262623.3	37	c.433A>G	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	t	1.705	-0.500619	0.04291	.	.	ENSG00000105675	ENST00000262623	D	0.88277	-2.36	3.22	-1.9	0.07665	ATPase,  P-type, cytoplasmic transduction domain A (1);	0.655593	0.11459	N	0.561984	T	0.76392	0.3981	L	0.37561	1.115	0.22081	N	0.999376	B	0.02656	0.0	B	0.01281	0.0	T	0.58002	-0.7713	10	0.15952	T	0.53	.	0.3378	0.00328	0.2255:0.1624:0.2689:0.3432	.	145	P20648	ATP4A_HUMAN	V	145	ENSP00000262623:I145V	ENSP00000262623:I145V	I	-	1	0	ATP4A	40743662	0.001000	0.12720	0.318000	0.25279	0.740000	0.42216	-0.065000	0.11617	-0.604000	0.05760	0.166000	0.16787	ATC		0.577	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		10	94	0	0	0	1	0	10	94				
ABCB11	8647	broad.mit.edu	37	2	169801203	169801203	+	Missense_Mutation	SNP	C	C	A			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr2:169801203C>A	ENST00000263817.6	-	21	2646	c.2522G>T	c.(2521-2523)gGg>gTg	p.G841V		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	841	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	AATATCTTGCCCCAGCATTGC	0.458																																						ENST00000263817.6																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57						c.(2521-2523)gGg>gTg		ATP-binding cassette, sub-family B (MDR/TAP), member 11	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)						143.0	133.0	136.0					2																	169801203		1881	4112	5993	SO:0001583	missense	8647				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	g.chr2:169801203C>A	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.2522G>T	2.37:g.169801203C>A	ENSP00000263817:p.Gly841Val						p.G841V	NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN			21	2646	-			841			ABC transmembrane type-1 2.		Q53TL2|Q9UNB2	Missense_Mutation	SNP	ENST00000263817.6	37	c.2522G>T	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972598	0.74246	.	.	ENSG00000073734	ENST00000263817	D	0.89552	-2.53	5.96	5.96	0.96718	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.044268	0.85682	D	0.000000	D	0.92344	0.7571	L	0.39898	1.24	0.80722	D	1	D;D	0.67145	0.981;0.996	P;D	0.68483	0.832;0.958	D	0.92217	0.5781	10	0.62326	D	0.03	.	20.394	0.98981	0.0:1.0:0.0:0.0	.	283;841	B4DZQ8;O95342	.;ABCBB_HUMAN	V	841	ENSP00000263817:G841V	ENSP00000263817:G841V	G	-	2	0	ABCB11	169509449	0.994000	0.37717	1.000000	0.80357	0.995000	0.86356	3.850000	0.55918	2.815000	0.96918	0.650000	0.86243	GGG		0.458	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		12	181	1	0	6.40141e-05	1	6.65747e-05	12	181				
ABHD12B	145447	broad.mit.edu	37	14	51370812	51370812	+	Silent	SNP	T	T	C			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr14:51370812T>C	ENST00000337334.2	+	12	978	c.963T>C	c.(961-963)aaT>aaC	p.N321N	ABHD12B_ENST00000395752.1_Silent_p.N214N|PYGL_ENST00000532462.1_Intron|ABHD12B_ENST00000353130.1_Silent_p.N244N	NM_001206673.1	NP_001193602.1	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B	321							hydrolase activity (GO:0016787)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10	all_epithelial(31;0.00481)|Breast(41;0.148)					TTGCACGCAATGCATACAGGA	0.433																																						ENST00000337334.2																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10						c.(961-963)aaT>aaC		abhydrolase domain containing 12B							163.0	158.0	160.0					14																	51370812		2203	4300	6503	SO:0001819	synonymous_variant	145447						hydrolase activity	g.chr14:51370812T>C	BG698443	CCDS9702.1, CCDS55916.1	14q21.3	2009-10-09	2007-04-03	2007-04-03	ENSG00000131969	ENSG00000131969		"""Abhydrolase domain containing"""	19837	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 29"""	C14orf29			Standard	NM_181814		Approved	BEM46L3	uc001wys.3	Q7Z5M8	OTTHUMG00000140286	ENST00000337334.2:c.963T>C	14.37:g.51370812T>C						ABHD12B_ENST00000353130.1_Silent_p.N244N|ABHD12B_ENST00000395752.1_Silent_p.N214N|PYGL_ENST00000532462.1_Intron	p.N321N	NM_001206673.1	NP_001193602.1	Q7Z5M8	AB12B_HUMAN			12	978	+	all_epithelial(31;0.00481)|Breast(41;0.148)		321					Q3KNR9|Q3KNS0|Q7Z5M6|Q7Z5M7|Q8N4D2	Silent	SNP	ENST00000337334.2	37	c.963T>C	CCDS55916.1																																																																																				0.433	ABHD12B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411030.1			5	189	0	0	0	1	0	5	189				
ECE2	9718	broad.mit.edu	37	3	183975407	183975407	+	Missense_Mutation	SNP	C	C	T	rs146338541		TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr3:183975407C>T	ENST00000402825.3	+	2	343	c.343C>T	c.(343-345)Cgg>Tgg	p.R115W	ECE2_ENST00000324557.4_Missense_Mutation_p.R115W|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	115	Methyltransferase-like region.				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)			CATGGATGTGCGGAAGCTGGA	0.612																																						ENST00000402825.3																			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.(343-345)Cgg>Tgg		endothelin converting enzyme 2		C	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	72.0	68.0	69.0		343,343	5.0	0.1	3	dbSNP_134	69	0,8600		0,0,4300	no	missense,missense	ECE2	NM_014693.3,NM_032331.3	101,101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	115/884,115/256	183975407	1,13005	2203	4300	6503	SO:0001583	missense	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.chr3:183975407C>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.343C>T	3.37:g.183975407C>T	ENSP00000384223:p.Arg115Trp					ECE2_ENST00000324557.4_Missense_Mutation_p.R115W|EIF2B5_ENST00000444495.1_Intron	p.R115W	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		2	343	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		115			Methyltransferase-like region.		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	ENST00000402825.3	37	c.343C>T	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	C	16.84	3.233974	0.58886	2.27E-4	0.0	ENSG00000145194	ENST00000324557;ENST00000402825	T;T	0.64803	-0.12;-0.12	5.88	5.01	0.66863	Methyltransferase type 11 (1);	.	.	.	.	D	0.84070	0.5391	M	0.93638	3.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.88038	0.2779	9	0.56958	D	0.05	-7.882	15.6572	0.77150	0.138:0.8619:0.0:0.0	.	115;115	O60344;O60344-4	ECE2_HUMAN;.	W	115	ENSP00000314295:R115W;ENSP00000384223:R115W	ENSP00000314295:R115W	R	+	1	2	ECE2	185458101	0.999000	0.42202	0.139000	0.22197	0.232000	0.25224	4.142000	0.58044	1.487000	0.48415	-0.152000	0.13540	CGG		0.612	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		26	39	0	0	0	1	0	26	39				
RMI1	80010	broad.mit.edu	37	9	86616420	86616420	+	Missense_Mutation	SNP	A	A	G			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr9:86616420A>G	ENST00000325875.3	+	3	851	c.519A>G	c.(517-519)atA>atG	p.I173M		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	173					DNA replication (GO:0006260)|glucose homeostasis (GO:0042593)|multicellular organism growth (GO:0035264)|reduction of food intake in response to dietary excess (GO:0002023)|response to glucose (GO:0009749)	nucleus (GO:0005634)				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						ATGGAAATATATCTTTCCGTC	0.358																																						ENST00000325875.3																			0				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(517-519)atA>atG		RecQ mediated genome instability 1							60.0	63.0	62.0					9																	86616420		2202	4298	6500	SO:0001583	missense	80010				DNA replication	nucleus		g.chr9:86616420A>G	AK022950	CCDS6669.1	9q22.1	2013-06-10	2013-06-10	2006-06-12	ENSG00000178966	ENSG00000178966			25764	protein-coding gene	gene with protein product	"""BLM-Associated Polypeptide, 75 kDa"""	610404	"""chromosome 9 open reading frame 76"", ""RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)"""	C9orf76		15775963, 20826341	Standard	NM_024945		Approved	FLJ12888, BLAP75	uc004anq.4	Q9H9A7	OTTHUMG00000020113	ENST00000325875.3:c.519A>G	9.37:g.86616420A>G	ENSP00000317039:p.Ile173Met						p.I173M	NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN			3	851	+			173					Q05BX1|Q05CW3|Q5SQG8|Q5SQG9|Q6P1Q4|Q6PI89|Q7Z6L6	Missense_Mutation	SNP	ENST00000325875.3	37	c.519A>G	CCDS6669.1	.	.	.	.	.	.	.	.	.	.	A	13.72	2.322586	0.41096	.	.	ENSG00000178966	ENST00000445877;ENST00000325875	T;T	0.50277	0.75;1.34	5.76	4.61	0.57282	.	0.149345	0.64402	D	0.000013	T	0.51669	0.1688	M	0.74546	2.27	0.41071	D	0.985454	B	0.18968	0.032	B	0.30029	0.11	T	0.52540	-0.8562	10	0.54805	T	0.06	-5.5172	12.2902	0.54815	0.1314:0.0:0.0:0.8686	.	173	Q9H9A7	RMI1_HUMAN	M	173	ENSP00000402433:I173M;ENSP00000317039:I173M	ENSP00000317039:I173M	I	+	3	3	RMI1	85806240	0.998000	0.40836	1.000000	0.80357	0.923000	0.55619	1.052000	0.30429	1.098000	0.41479	-0.347000	0.07816	ATA		0.358	RMI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052870.1	NM_024945		5	58	0	0	0	1	0	5	58				
SCAI	286205	broad.mit.edu	37	9	127765811	127765811	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr9:127765811C>T	ENST00000336505.6	-	10	958	c.900G>A	c.(898-900)atG>atA	p.M300I	SCAI_ENST00000373549.4_Missense_Mutation_p.M323I|SCAI_ENST00000487795.1_5'UTR	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	300					negative regulation of cell migration (GO:0030336)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						GAGCTTGTAACATCCGGAACA	0.393																																						ENST00000336505.5																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						c.(898-900)atG>atA		suppressor of cancer cell invasion							115.0	107.0	109.0					9																	127765811		1880	4119	5999	SO:0001583	missense	286205				negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity	g.chr9:127765811C>T	AK093983	CCDS43877.1, CCDS48017.1	9q34.11	2009-11-06	2009-07-09	2009-07-09	ENSG00000173611	ENSG00000173611			26709	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 126"""	C9orf126			Standard	NM_173690		Approved	FLJ36664, NET40	uc004bpd.3	Q8N9R8	OTTHUMG00000020667	ENST00000336505.6:c.900G>A	9.37:g.127765811C>T	ENSP00000336756:p.Met300Ile					SCAI_ENST00000487795.1_5'UTR|SCAI_ENST00000373549.4_Missense_Mutation_p.M323I	p.M300I	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN			10	958	-			300					Q3SXZ1|Q3SXZ2|Q5T163|Q8N1I4	Missense_Mutation	SNP	ENST00000336505.6	37	c.900G>A	CCDS48017.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317447	0.81469	.	.	ENSG00000173611	ENST00000336505;ENST00000373549	T;T	0.58210	0.35;0.36	5.05	5.05	0.67936	.	0.113229	0.85682	D	0.000000	T	0.65984	0.2744	M	0.62088	1.915	0.58432	D	0.999998	P;P	0.40180	0.705;0.656	P;P	0.52758	0.708;0.679	T	0.66312	-0.5955	10	0.48119	T	0.1	-12.5214	17.4034	0.87467	0.0:1.0:0.0:0.0	.	300;323	Q8N9R8;Q8N9R8-2	SCAI_HUMAN;.	I	300;323	ENSP00000336756:M300I;ENSP00000362650:M323I	ENSP00000336756:M300I	M	-	3	0	SCAI	126805632	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.445000	0.80570	2.340000	0.79590	0.455000	0.32223	ATG		0.393	SCAI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054055.3	NM_173690		20	101	0	0	0	1	0	20	101				
ASAP1	50807	broad.mit.edu	37	8	131249199	131249199	+	Missense_Mutation	SNP	C	C	A			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr8:131249199C>A	ENST00000518721.1	-	4	455	c.228G>T	c.(226-228)aaG>aaT	p.K76N	ASAP1_ENST00000357668.1_Missense_Mutation_p.K76N	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	76					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CTTTTACAGACTTCTTCACTT	0.289																																						ENST00000357668.1																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						c.(226-228)aaG>aaT		ArfGAP with SH3 domain, ankyrin repeat and PH domain 1							62.0	60.0	61.0					8																	131249199		2203	4295	6498	SO:0001583	missense	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131249199C>A	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.228G>T	8.37:g.131249199C>A	ENSP00000429900:p.Lys76Asn					ASAP1_ENST00000518721.1_Missense_Mutation_p.K76N	p.K76N			Q9ULH1	ASAP1_HUMAN			3	255	-			76					B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	c.228G>T	CCDS6362.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.397138	0.62177	.	.	ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721;ENST00000524367;ENST00000521426	T;T;T;T	0.08634	3.07;3.07;3.07;3.07	5.45	2.43	0.29744	IRSp53/MIM homology domain (IMD) (1);	0.108090	0.64402	D	0.000009	T	0.23410	0.0566	M	0.79011	2.435	0.58432	D	0.999995	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.00533	-1.1685	10	0.59425	D	0.04	.	6.0316	0.19683	0.0:0.492:0.0:0.508	.	76;76	B2RNV3;Q9ULH1	.;ASAP1_HUMAN	N	76;76;76;46;69	ENSP00000350297:K76N;ENSP00000429900:K76N;ENSP00000430588:K46N;ENSP00000430917:K69N	ENSP00000344591:K76N	K	-	3	2	ASAP1	131318381	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.323000	0.19593	0.527000	0.28560	0.650000	0.86243	AAG		0.289	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		4	17	1	0	1	1	1	4	17				
LTBP1	4052	broad.mit.edu	37	2	33246141	33246141	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr2:33246141C>T	ENST00000404816.2	+	3	1084	c.731C>T	c.(730-732)cCt>cTt	p.P244L	LTBP1_ENST00000354476.3_Missense_Mutation_p.P244L			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	244					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TCGTGGGGCCCTCCTGAGCAA	0.572																																						ENST00000404816.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108						c.(730-732)cCt>cTt		latent transforming growth factor beta binding protein 1							108.0	111.0	110.0					2																	33246141		2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33246141C>T		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.731C>T	2.37:g.33246141C>T	ENSP00000386043:p.Pro244Leu					LTBP1_ENST00000354476.3_Missense_Mutation_p.P244L	p.P244L			Q14766	LTBP1_HUMAN			3	1084	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	244					A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.731C>T	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	C	8.878	0.950866	0.18431	.	.	ENSG00000049323	ENST00000404816;ENST00000354476	T;T	0.80033	-1.33;-1.31	4.99	1.62	0.23740	.	.	.	.	.	T	0.57373	0.2049	N	0.08118	0	0.18873	N	0.999984	B	0.02656	0.0	B	0.04013	0.001	T	0.44967	-0.9293	9	0.39692	T	0.17	.	2.0464	0.03561	0.2458:0.3406:0.0:0.4136	.	244	Q14766-4	.	L	244	ENSP00000386043:P244L;ENSP00000346467:P244L	ENSP00000346467:P244L	P	+	2	0	LTBP1	33099645	0.593000	0.26840	0.084000	0.20598	0.479000	0.33129	4.423000	0.59861	0.596000	0.29794	-0.203000	0.12734	CCT		0.572	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		6	206	0	0	0	1	0	6	206				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000544772.1_Silent_p.S151S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382566.1_3'UTR			O96017	CHK2_HUMAN	checkpoint kinase 2	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			8	Substitution - coding silent(8)	p.S372S(8)	kidney(4)|prostate(2)|endometrium(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(451-453)tcC>tcT	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							43.0	44.0	44.0					22																	29091841		2203	4300	6503	SO:0001819	synonymous_variant	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091841G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116C>T	22.37:g.29091841G>A						CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S	p.S151S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1889	-			372			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.453C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330417	0.10956	.	.	ENSG00000183765	ENST00000434810	.	.	.	5.89	-2.11	0.07187	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33854	-0.9852	4	.	.	.	-7.6356	3.2532	0.06822	0.327:0.1103:0.4613:0.1014	.	.	.	.	L	116	.	.	P	-	2	0	CHEK2	27421841	0.997000	0.39634	0.996000	0.52242	0.470000	0.32858	0.318000	0.19504	-0.075000	0.12798	-0.907000	0.02831	CCA		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		6	94	0	0	0	1	0	6	94				
HIVEP2	3097	broad.mit.edu	37	6	143091947	143091947	+	Missense_Mutation	SNP	G	G	A			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr6:143091947G>A	ENST00000367604.1	-	4	4568	c.3929C>T	c.(3928-3930)tCt>tTt	p.S1310F	HIVEP2_ENST00000367603.2_Missense_Mutation_p.S1310F|HIVEP2_ENST00000012134.2_Missense_Mutation_p.S1310F			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1310					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(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		AACCTGCTCAGAGGGCGTTTC	0.507																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	ENST00000367603.2																			0				NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100						c.(3928-3930)tCt>tTt		human immunodeficiency virus type I enhancer binding protein 2							140.0	140.0	140.0					6																	143091947		1915	4126	6041	SO:0001583	missense	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143091947G>A	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.3929C>T	6.37:g.143091947G>A	ENSP00000356576:p.Ser1310Phe					HIVEP2_ENST00000367604.1_Missense_Mutation_p.S1310F|HIVEP2_ENST00000012134.2_Missense_Mutation_p.S1310F	p.S1310F	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	5	4671	-			1310					Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	c.3929C>T	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	G	7.794	0.712123	0.15306	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02763	4.17;4.17;4.17	5.97	5.97	0.96955	.	0.449425	0.27730	N	0.018084	T	0.02083	0.0065	L	0.55481	1.735	0.31786	N	0.630325	B	0.16396	0.017	B	0.08055	0.003	T	0.45848	-0.9233	10	0.24483	T	0.36	-14.3537	20.428	0.99075	0.0:0.0:1.0:0.0	.	1310	P31629	ZEP2_HUMAN	F	1310	ENSP00000356576:S1310F;ENSP00000356575:S1310F;ENSP00000012134:S1310F	ENSP00000012134:S1310F	S	-	2	0	HIVEP2	143133640	0.998000	0.40836	0.791000	0.31998	0.582000	0.36321	2.899000	0.48679	2.837000	0.97791	0.655000	0.94253	TCT		0.507	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			5	233	0	0	0	1	0	5	233				
CR1	1378	broad.mit.edu	37	1	207741322	207741322	+	Missense_Mutation	SNP	G	G	T	rs374276678		TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr1:207741322G>T	ENST00000367049.4	+	25	4106	c.4106G>T	c.(4105-4107)cGc>cTc	p.R1369L	RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367051.1_Missense_Mutation_p.R919L|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000400960.2_Missense_Mutation_p.R919L|CR1_ENST00000367053.1_Missense_Mutation_p.R919L|CR1_ENST00000367052.1_Intron	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	919	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AGCACCATCCGCTGCACAAGT	0.547																																						ENST00000367049.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(4105-4107)cGc>cTc		complement component (3b/4b) receptor 1 (Knops blood group)							86.0	103.0	98.0					1																	207741322		1809	4081	5890	SO:0001583	missense	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207741322G>T	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.4106G>T	1.37:g.207741322G>T	ENSP00000356016:p.Arg1369Leu					CR1_ENST00000367052.1_Intron|CR1_ENST00000400960.2_Missense_Mutation_p.R919L|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367051.1_Missense_Mutation_p.R919L|CR1_ENST00000367053.1_Missense_Mutation_p.R919L	p.R1369L	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN			25	4106	+			919			Sushi 21.		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	c.4106G>T	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	g	17.86	3.493681	0.64186	.	.	ENSG00000203710	ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	2.73	-3.13	0.05266	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.64649	0.2617	M	0.62723	1.935	0.09310	N	1	P;D;P;D	0.69078	0.513;0.995;0.81;0.997	P;D;B;D	0.80764	0.652;0.987;0.361;0.994	T	0.56050	-0.8043	9	0.10377	T	0.69	.	2.6059	0.04878	0.3875:0.0:0.2508:0.3617	.	919;469;919;1369	Q5SR44;E9PQN4;P17927;E9PDY4	.;.;CR1_HUMAN;.	L	919;919;919;1369	ENSP00000356018:R919L;ENSP00000356020:R919L;ENSP00000383744:R919L;ENSP00000356016:R1369L	ENSP00000356016:R1369L	R	+	2	0	CR1	205807945	0.000000	0.05858	0.052000	0.19188	0.908000	0.53690	-0.913000	0.04042	-0.793000	0.04475	0.491000	0.48974	CGC		0.547	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		13	165	1	0	4.3838e-07	1	4.6522e-07	13	165				
THSD7B	80731	broad.mit.edu	37	2	137814301	137814301	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr2:137814301C>T	ENST00000409968.1	+	3	629	c.451C>T	c.(451-453)Cga>Tga	p.R151*	THSD7B_ENST00000543459.1_Nonsense_Mutation_p.R10*|THSD7B_ENST00000272643.3_Nonsense_Mutation_p.R151*|THSD7B_ENST00000413152.2_Nonsense_Mutation_p.R120*			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	151	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GAAGCTGAACCGAACTGTGGT	0.537																																						ENST00000409968.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(451-453)Cga>Tga		thrombospondin, type I, domain containing 7B							107.0	111.0	110.0					2																	137814301		2024	4191	6215	SO:0001587	stop_gained	80731							g.chr2:137814301C>T			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.451C>T	2.37:g.137814301C>T	ENSP00000387145:p.Arg151*					THSD7B_ENST00000543459.1_Nonsense_Mutation_p.R10*|THSD7B_ENST00000272643.3_Nonsense_Mutation_p.R151*|THSD7B_ENST00000413152.2_Nonsense_Mutation_p.R120*	p.R151*						BRCA - Breast invasive adenocarcinoma(221;0.19)	3	629	+									Nonsense_Mutation	SNP	ENST00000409968.1	37	c.451C>T		.	.	.	.	.	.	.	.	.	.	C	26.7	4.761113	0.89932	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152;ENST00000543459	.	.	.	6.07	3.78	0.43462	.	0.083098	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	8.6851	0.34232	0.6284:0.2996:0.0719:0.0	.	.	.	.	X	151;151;120;10	.	ENSP00000272643:R151X	R	+	1	2	THSD7B	137530771	0.881000	0.30235	1.000000	0.80357	0.820000	0.46376	0.579000	0.23788	1.117000	0.41842	-0.375000	0.07067	CGA		0.537	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		20	90	0	0	0	1	0	20	90				
PRG4	10216	broad.mit.edu	37	1	186276052	186276052	+	Missense_Mutation	SNP	A	A	C	rs542620960	byFrequency	TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr1:186276052A>C	ENST00000445192.2	+	7	1246	c.1201A>C	c.(1201-1203)Acc>Ccc	p.T401P	PRG4_ENST00000367486.3_Missense_Mutation_p.T358P|PRG4_ENST00000367483.4_Missense_Mutation_p.T360P|PRG4_ENST00000367485.4_Missense_Mutation_p.T308P|PRG4_ENST00000367484.3_Missense_Mutation_p.T360P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	401	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.T401P(4)|p.T400>?(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCACCACCACCAAGGAGCC	0.642													-|||	12	0.00239617	0.0083	0.0014	5008	,	,		8994	0.0		0.0	False		,,,				2504	0.0					ENST00000445192.2																			5	Substitution - Missense(4)|Complex(1)	p.T401P(4)|p.T400>?(1)	kidney(2)|prostate(1)|lung(1)|endometrium(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1201-1203)Acc>Ccc		proteoglycan 4							95.0	89.0	91.0					1																	186276052		2203	4298	6501	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276052A>C	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1201A>C	1.37:g.186276052A>C	ENSP00000399679:p.Thr401Pro					PRG4_ENST00000367483.4_Missense_Mutation_p.T360P|PRG4_ENST00000367486.3_Missense_Mutation_p.T358P|PRG4_ENST00000367484.3_Missense_Mutation_p.T360P|PRG4_ENST00000367485.4_Missense_Mutation_p.T308P	p.T401P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1246	+			401			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1201A>C	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	-	3.851	-0.031771	0.07543	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T	0.05258	3.54;3.65;3.61;3.47;3.64	3.17	-6.34	0.01982	.	.	.	.	.	T	0.02649	0.0080	N	0.13140	0.3	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.0;0.001	B;B;B;B	0.06405	0.002;0.002;0.001;0.002	T	0.46034	-0.9220	8	.	.	.	.	3.639	0.08160	0.4008:0.398:0.0956:0.1055	.	267;308;401;360	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	P	358;360;267;360;308;401	ENSP00000356456:T358P;ENSP00000356454:T360P;ENSP00000356453:T360P;ENSP00000356455:T308P;ENSP00000399679:T401P	.	T	+	1	0	PRG4	184542675	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.209000	0.09358	-1.096000	0.03046	-2.716000	0.00133	ACC		0.642	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		7	207	0	0	0	1	0	7	207				
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr11:3427765G>C	ENST00000529482.1	+	0	882									tumor suppressing subtransferable candidate 2 pseudogene																		CACACGTCCTGCAGTGGCCTG	0.602																																						ENST00000529482.1																			0																																																			0							g.chr11:3427765G>C			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427765G>C														0	882	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.602	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			4	84	0	0	0	1	0	4	84				
MKI67	4288	broad.mit.edu	37	10	129906793	129906793	+	Missense_Mutation	SNP	C	C	G			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr10:129906793C>G	ENST00000368654.3	-	13	3686	c.3311G>C	c.(3310-3312)gGc>gCc	p.G1104A	MKI67_ENST00000484853.1_5'Flank|MKI67_ENST00000368653.3_Missense_Mutation_p.G744A	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1104	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTCTTTGAAGCCAGCCAGGTC	0.507																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(3310-3312)gGc>gCc		marker of proliferation Ki-67							193.0	190.0	191.0					10																	129906793		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129906793C>G	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.3311G>C	10.37:g.129906793C>G	ENSP00000357643:p.Gly1104Ala					MKI67_ENST00000368653.3_Missense_Mutation_p.G744A	p.G1104A	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	3686	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1104			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.3311G>C	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.308739	0.40895	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.03242	4.0;4.0	4.08	2.17	0.27698	.	.	.	.	.	T	0.10809	0.0264	M	0.70595	2.14	0.09310	N	1	D;D;D	0.89917	0.974;1.0;1.0	P;D;D	0.74348	0.849;0.983;0.979	T	0.11991	-1.0565	9	0.07175	T	0.84	.	6.9372	0.24472	0.1714:0.7374:0.0:0.0912	.	1103;744;1104	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	A	1104;744;1103	ENSP00000357643:G1104A;ENSP00000357642:G744A	ENSP00000357642:G744A	G	-	2	0	MKI67	129796783	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	1.056000	0.30480	0.468000	0.27243	0.561000	0.74099	GGC		0.507	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		34	275	0	0	0	1	0	34	275				
IGSF3	3321	broad.mit.edu	37	1	117142736	117142736	+	Missense_Mutation	SNP	A	A	G	rs138851517	byFrequency	TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr1:117142736A>G	ENST00000369486.3	-	7	2621	c.1856T>C	c.(1855-1857)aTc>aCc	p.I619T	IGSF3_ENST00000318837.6_Missense_Mutation_p.I639T|IGSF3_ENST00000369483.1_Missense_Mutation_p.I639T	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	619	Ig-like C2-type 5.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		AGCCTTCTCGATGGCAGTTCG	0.627													A|||	10	0.00199681	0.0023	0.0029	5008	,	,		16651	0.001		0.001	False		,,,				2504	0.0031					ENST00000369486.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62						c.(1855-1857)aTc>aCc		immunoglobulin superfamily, member 3																																				SO:0001583	missense	3321					integral to membrane		g.chr1:117142736A>G	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.1856T>C	1.37:g.117142736A>G	ENSP00000358498:p.Ile619Thr					IGSF3_ENST00000318837.6_Missense_Mutation_p.I639T|IGSF3_ENST00000369483.1_Missense_Mutation_p.I639T	p.I619T	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	7	2621	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	619			Ig-like C2-type 5.		A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	c.1856T>C	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	A	16.34	3.096884	0.56075	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.15256	2.44;2.44;2.44	4.8	4.8	0.61643	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.132915	0.52532	D	0.000079	T	0.06096	0.0158	N	0.19112	0.55	0.48571	D	0.999675	B;B;B	0.30914	0.162;0.3;0.195	B;B;B	0.33454	0.069;0.164;0.114	T	0.16837	-1.0389	10	0.51188	T	0.08	-37.2914	12.3358	0.55067	1.0:0.0:0.0:0.0	.	639;619;639	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	T	619;639;639	ENSP00000358498:I619T;ENSP00000358495:I639T;ENSP00000321184:I639T	ENSP00000321184:I639T	I	-	2	0	IGSF3	116944259	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.960000	0.76036	2.001000	0.58596	0.374000	0.22700	ATC		0.627	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		5	58	0	0	0	1	0	5	58				
KRTAP5-4	387267	broad.mit.edu	37	11	1643082	1643082	+	Missense_Mutation	SNP	T	T	C			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr11:1643082T>C	ENST00000399682.1	-	1	286	c.242A>G	c.(241-243)tAt>tGt	p.Y81C		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ACAAGAGCCATAGCCCCCCTT	0.657																																						ENST00000399682.1																			0				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20						c.(241-243)tAt>tGt		keratin associated protein 5-4							9.0	16.0	14.0					11																	1643082		684	1578	2262	SO:0001583	missense	387267					keratin filament		g.chr11:1643082T>C	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"""Keratin associated proteins"""	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.242A>G	11.37:g.1643082T>C	ENSP00000382590:p.Tyr81Cys						p.Y81C	NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	286	-		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	81			9 X 4 AA repeats of C-C-X-P.			Missense_Mutation	SNP	ENST00000399682.1	37	c.242A>G		.	.	.	.	.	.	.	.	.	.	C	0.053	-1.244643	0.01481	.	.	ENSG00000241598	ENST00000399682;ENST00000328953	T	0.00646	6.0	3.19	3.19	0.36642	.	.	.	.	.	T	0.00144	0.0004	N	0.00004	-3.39	0.20196	N	0.999929	B	0.02656	0.0	B	0.01281	0.0	T	0.41610	-0.9499	9	0.02654	T	1	.	5.8653	0.18771	0.0:0.738:0.0:0.262	rs59610171	81	Q6L8H1	KRA54_HUMAN	C	81	ENSP00000382590:Y81C	ENSP00000331603:Y81C	Y	-	2	0	KRTAP5-4	1599658	0.218000	0.23608	0.997000	0.53966	0.226000	0.24999	0.624000	0.24462	0.452000	0.26830	-0.254000	0.11334	TAT		0.657	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		5	308	0	0	0	1	0	5	308				
ANO5	203859	broad.mit.edu	37	11	22261130	22261130	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr11:22261130C>T	ENST00000324559.8	+	9	1095	c.778C>T	c.(778-780)Cca>Tca	p.P260S		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	260					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATATTGGAAGCCATCAGAACC	0.398																																						ENST00000324559.8																			0				breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(778-780)Cca>Tca		anoctamin 5							135.0	138.0	137.0					11																	22261130		2203	4300	6503	SO:0001583	missense	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22261130C>T	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.778C>T	11.37:g.22261130C>T	ENSP00000315371:p.Pro260Ser						p.P260S	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN			9	1095	+			260						Missense_Mutation	SNP	ENST00000324559.8	37	c.778C>T	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.797492	0.31777	.	.	ENSG00000171714	ENST00000324559	T	0.73047	-0.71	6.02	1.62	0.23740	.	0.297982	0.40302	N	0.001134	T	0.57021	0.2025	L	0.49350	1.555	0.25411	N	0.988354	B	0.10296	0.003	B	0.12156	0.007	T	0.48559	-0.9025	10	0.45353	T	0.12	.	2.9113	0.05738	0.3324:0.3729:0.2105:0.0843	.	260	Q75V66	ANO5_HUMAN	S	260	ENSP00000315371:P260S	ENSP00000315371:P260S	P	+	1	0	ANO5	22217706	1.000000	0.71417	0.993000	0.49108	0.851000	0.48451	1.772000	0.38552	0.410000	0.25675	0.650000	0.86243	CCA		0.398	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		27	185	0	0	0	1	0	27	185				
FUT1	2523	broad.mit.edu	37	19	49254054	49254054	+	Missense_Mutation	SNP	A	A	G			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr19:49254054A>G	ENST00000310160.3	-	4	1459	c.485T>C	c.(484-486)cTg>cCg	p.L162P	FUT1_ENST00000601931.1_5'Flank	NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	162					carbohydrate metabolic process (GO:0005975)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		AGAGAGCTTCAGGAAAGGATC	0.617																																						ENST00000310160.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17						c.(484-486)cTg>cCg		fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)							136.0	148.0	144.0					19																	49254054		2198	4295	6493	SO:0001583	missense	2523				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity	g.chr19:49254054A>G		CCDS12733.1	19q13.33	2014-07-19	2006-01-19		ENSG00000174951	ENSG00000174951	2.4.1.69	"""Blood group antigens"", ""Fucosyltransferases"""	4012	protein-coding gene	gene with protein product		211100	"""fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, Bombay phenotype included)"", ""fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase)"""	H, HSC			Standard	NM_000148		Approved		uc002pkk.3	P19526		ENST00000310160.3:c.485T>C	19.37:g.49254054A>G	ENSP00000312021:p.Leu162Pro						p.L162P	NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)	4	1459	-		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	162					O14505|O14506|O14507	Missense_Mutation	SNP	ENST00000310160.3	37	c.485T>C	CCDS12733.1	.	.	.	.	.	.	.	.	.	.	A	11.84	1.759480	0.31137	.	.	ENSG00000174951	ENST00000310160;ENST00000539428	D	0.96830	-4.14	4.54	3.52	0.40303	.	0.162472	0.29178	N	0.012907	D	0.97155	0.9070	M	0.72118	2.19	0.34961	D	0.752187	D	0.76494	0.999	D	0.74348	0.983	D	0.98465	1.0598	10	0.87932	D	0	-4.8587	8.4796	0.33034	0.9058:0.0:0.0942:0.0	.	162	P19526	FUT1_HUMAN	P	162;152	ENSP00000312021:L162P	ENSP00000312021:L162P	L	-	2	0	FUT1	53945866	0.093000	0.21703	0.294000	0.24946	0.119000	0.20118	2.503000	0.45407	0.885000	0.36088	0.460000	0.39030	CTG		0.617	FUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466194.1	NM_000148		34	310	0	0	0	1	0	34	310				
DHX29	54505	broad.mit.edu	37	5	54565249	54565249	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr5:54565249C>T	ENST00000251636.5	-	21	3434	c.3286G>A	c.(3286-3288)Gac>Aac	p.D1096N	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	1096						eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				ACCACTGGGTCAAGGCAGCCA	0.388																																						ENST00000251636.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46						c.(3286-3288)Gac>Aac		DEAH (Asp-Glu-Ala-His) box polypeptide 29							78.0	72.0	74.0					5																	54565249		2203	4300	6503	SO:0001583	missense	54505						ATP binding|ATP-dependent helicase activity|translation initiation factor activity	g.chr5:54565249C>T	AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"""DEAH-boxes"""	15815	protein-coding gene	gene with protein product		612720	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"""	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.3286G>A	5.37:g.54565249C>T	ENSP00000251636:p.Asp1096Asn					RP11-506H20.1_ENST00000506435.1_RNA	p.D1096N	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN			21	3434	-		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)	1096					O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Missense_Mutation	SNP	ENST00000251636.5	37	c.3286G>A	CCDS34158.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.033964	0.93575	.	.	ENSG00000067248	ENST00000251636	T	0.34275	1.37	5.72	5.72	0.89469	Helicase-associated domain (2);	0.137098	0.64402	D	0.000004	T	0.35913	0.0948	L	0.38531	1.155	0.53688	D	0.999973	B	0.33841	0.428	B	0.35899	0.213	T	0.10520	-1.0626	10	0.49607	T	0.09	.	19.8946	0.96949	0.0:1.0:0.0:0.0	.	1096	Q7Z478	DHX29_HUMAN	N	1096	ENSP00000251636:D1096N	ENSP00000251636:D1096N	D	-	1	0	DHX29	54601006	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.456000	0.80751	2.711000	0.92665	0.655000	0.94253	GAC		0.388	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1	NM_019030		4	39	0	0	0	1	0	4	39				
TTN	7273	broad.mit.edu	37	2	179482973	179482973	+	Missense_Mutation	SNP	C	C	G			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr2:179482973C>G	ENST00000591111.1	-	202	42513	c.42289G>C	c.(42289-42291)Gtt>Ctt	p.V14097L	TTN-AS1_ENST00000604956.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V6865L|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V13170L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V6798L|TTN_ENST00000460472.2_Missense_Mutation_p.V6673L|TTN_ENST00000589042.1_Missense_Mutation_p.V15738L			Q8WZ42	TITIN_HUMAN	titin	14097	Fibronectin type-III 1. {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)			CCAGTGCCAACTCTGTTTCTT	0.418																																						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.(47212-47214)Gtt>Ctt		titin							164.0	161.0	162.0					2																	179482973		1932	4139	6071	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179482973C>G	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.42289G>C	2.37:g.179482973C>G	ENSP00000465570:p.Val14097Leu					TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V6865L|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V6673L|TTN_ENST00000359218.5_Missense_Mutation_p.V6798L|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V14097L|TTN_ENST00000342992.6_Missense_Mutation_p.V13170L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA	p.V15738L	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)		252	47436	-			14097			Fibronectin type-III 14.		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.47212G>C		.	.	.	.	.	.	.	.	.	.	C	15.12	2.738136	0.49045	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	5.6	5.6	0.85130	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67230	0.2871	L	0.41027	1.25	0.58432	D	0.999999	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.80764	0.994;0.994;0.994;0.994	T	0.68269	-0.5453	9	0.87932	D	0	.	19.982	0.97329	0.0:1.0:0.0:0.0	.	6673;6798;6865;14097	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	13170;6673;6865;6798;6673	ENSP00000343764:V13170L;ENSP00000434586:V6673L;ENSP00000340554:V6865L;ENSP00000352154:V6798L	ENSP00000340554:V6865L	V	-	1	0	TTN	179191218	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.729000	0.84864	2.798000	0.96311	0.650000	0.86243	GTT		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	157	0	0	0	1	0	11	157				
EEA1	8411	broad.mit.edu	37	12	93181726	93181726	+	Missense_Mutation	SNP	T	T	C			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr12:93181726T>C	ENST00000322349.8	-	22	3331	c.3067A>G	c.(3067-3069)Aaa>Gaa	p.K1023E		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	1023	Gln/Glu/Lys-rich.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TCCTGACTTTTTTCATAGTTG	0.388																																						ENST00000322349.8																			0				endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						c.(3067-3069)Aaa>Gaa		early endosome antigen 1							67.0	65.0	66.0					12																	93181726		2203	4300	6503	SO:0001583	missense	8411				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding	g.chr12:93181726T>C	L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.3067A>G	12.37:g.93181726T>C	ENSP00000317955:p.Lys1023Glu						p.K1023E	NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN			22	3331	-			1023			Gln/Glu/Lys-rich.		Q14221	Missense_Mutation	SNP	ENST00000322349.8	37	c.3067A>G	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	T	0.343	-0.949082	0.02304	.	.	ENSG00000102189	ENST00000322349	T	0.64260	-0.09	6.06	4.91	0.64330	.	0.000000	0.56097	D	0.000027	T	0.37839	0.1018	N	0.17082	0.46	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25572	-1.0128	10	0.05525	T	0.97	.	8.3674	0.32395	0.0:0.0672:0.1308:0.8019	.	1023	Q15075	EEA1_HUMAN	E	1023	ENSP00000317955:K1023E	ENSP00000317955:K1023E	K	-	1	0	EEA1	91705857	0.966000	0.33281	0.839000	0.33178	0.148000	0.21650	1.915000	0.39976	2.323000	0.78572	0.528000	0.53228	AAA		0.388	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566		7	36	0	0	0	1	0	7	36				
ABCA8	10351	broad.mit.edu	37	17	66928503	66928503	+	Silent	SNP	A	A	C			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr17:66928503A>C	ENST00000269080.2	-	6	860	c.723T>G	c.(721-723)tcT>tcG	p.S241S	ABCA8_ENST00000430352.2_Silent_p.S241S|ABCA8_ENST00000586539.1_Silent_p.S241S	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	241					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TGACATTAACAGATGCATAGT	0.378																																						ENST00000269080.2																			0				breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83						c.(721-723)tcT>tcG		ATP-binding cassette, sub-family A (ABC1), member 8							89.0	81.0	84.0					17																	66928503		2203	4300	6503	SO:0001819	synonymous_variant	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66928503A>C	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.723T>G	17.37:g.66928503A>C						ABCA8_ENST00000586539.1_Silent_p.S241S|ABCA8_ENST00000430352.2_Silent_p.S241S	p.S241S	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN			6	860	-	Breast(10;4.56e-13)		241					A1L3U3|C9JQE6|Q86WW0	Silent	SNP	ENST00000269080.2	37	c.723T>G	CCDS11680.1																																																																																				0.378	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		6	52	0	0	0	1	0	6	52				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			9	Substitution - Missense(9)	p.K373E(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu					CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E	p.K152E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1890	-			373			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.454A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		5	96	0	0	0	1	0	5	96				
MEI1	150365	broad.mit.edu	37	22	42154399	42154399	+	De_novo_Start_OutOfFrame	SNP	A	A	T			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr22:42154399A>T	ENST00000300398.4	+	0	2007				MEI1_ENST00000540833.1_Missense_Mutation_p.H401L|MEI1_ENST00000400107.1_Missense_Mutation_p.H29L|MEI1_ENST00000540880.1_De_novo_Start_OutOfFrame|MEI1_ENST00000401548.3_Missense_Mutation_p.H661L					meiosis inhibitor 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CTCCTGCAGCATGGGCTGCCC	0.527																																						ENST00000300398.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30								meiosis inhibitor 1							50.0	51.0	51.0					22																	42154399		1949	4142	6091			150365						binding	g.chr22:42154399A>T	AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"""spermatogenesis associated 38"""	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000300398.4:c.-995A>T	22.37:g.42154399A>T						MEI1_ENST00000540833.1_Missense_Mutation_p.H401L|MEI1_ENST00000400107.1_Missense_Mutation_p.H29L|MEI1_ENST00000401548.3_Missense_Mutation_p.H661L|MEI1_ENST00000540880.1_De_novo_Start_OutOfFrame				Q5TIA1	MEI1_HUMAN			0	2007	+									Translation_Start_Site	SNP	ENST00000300398.4	37			.	.	.	.	.	.	.	.	.	.	A	8.603	0.887198	0.17540	.	.	ENSG00000167077	ENST00000401548;ENST00000540833;ENST00000400107	T;T;T	0.23348	3.64;3.64;1.91	4.86	3.79	0.43588	.	0.701297	0.14704	N	0.303397	T	0.23054	0.0557	L	0.51422	1.61	0.80722	D	1	B;B;B	0.29301	0.241;0.004;0.241	B;B;B	0.26416	0.069;0.004;0.069	T	0.02683	-1.1124	10	0.46703	T	0.11	-8.1448	8.8043	0.34927	0.8318:0.0:0.0:0.1682	.	29;29;661	Q5TIA1-3;Q5TIA1-2;Q5TIA1	.;.;MEI1_HUMAN	L	661;401;29	ENSP00000384115:H661L;ENSP00000444225:H401L;ENSP00000382978:H29L	ENSP00000382978:H29L	H	+	2	0	MEI1	40484345	0.163000	0.22920	0.624000	0.29186	0.096000	0.18686	0.449000	0.21744	0.767000	0.33267	0.459000	0.35465	CAT		0.527	MEI1-201	KNOWN	basic	protein_coding	protein_coding		NM_152513		8	56	0	0	0	1	0	8	56				
PDZD2	23037	broad.mit.edu	37	5	32058048	32058048	+	Missense_Mutation	SNP	C	C	G			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr5:32058048C>G	ENST00000438447.1	+	12	2427	c.2039C>G	c.(2038-2040)cCc>cGc	p.P680R	PDZD2_ENST00000282493.3_Missense_Mutation_p.P680R			O15018	PDZD2_HUMAN	PDZ domain containing 2	680					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AGCCTCACACCCTGCTCGACA	0.532											OREG0016543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(2038-2040)cCc>cGc		PDZ domain containing 2							67.0	59.0	62.0					5																	32058048		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32058048C>G	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.2039C>G	5.37:g.32058048C>G	ENSP00000402033:p.Pro680Arg		OREG0016543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	829	PDZD2_ENST00000282493.3_Missense_Mutation_p.P680R	p.P680R			O15018	PDZD2_HUMAN			12	2427	+			680					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.2039C>G	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.644444	0.67244	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.09255	3.0;3.0	6.06	5.2	0.72013	PDZ/DHR/GLGF (1);	0.000000	0.46442	D	0.000295	T	0.22085	0.0532	L	0.32530	0.975	0.54753	D	0.999982	D;D	0.89917	0.998;1.0	D;D	0.72625	0.975;0.978	T	0.01056	-1.1466	10	0.66056	D	0.02	.	13.1409	0.59434	0.0:0.9233:0.0:0.0767	.	506;680	B4E3P2;O15018	.;PDZD2_HUMAN	R	680;499;680	ENSP00000402033:P680R;ENSP00000282493:P680R	ENSP00000282493:P680R	P	+	2	0	PDZD2	32093805	1.000000	0.71417	0.990000	0.47175	0.482000	0.33219	7.194000	0.77789	1.583000	0.49898	-0.142000	0.14014	CCC		0.532	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			10	82	0	0	0	1	0	10	82				
ING1	3621	broad.mit.edu	37	13	111367947	111367947	+	Missense_Mutation	SNP	G	G	T			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr13:111367947G>T	ENST00000375774.3	+	1	619	c.157G>T	c.(157-159)Gat>Tat	p.D53Y	ING1_ENST00000338450.7_Intron|CARS2_ENST00000535398.1_5'Flank|ING1_ENST00000375775.3_Intron|ING1_ENST00000464141.1_Intron|ING1_ENST00000333219.7_Intron	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	53					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941)	nucleus (GO:0005634)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TGGACGAGTTGATTTGAACGT	0.592																																						ENST00000375774.3																			0				endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12						c.(157-159)Gat>Tat		inhibitor of growth family, member 1							107.0	103.0	104.0					13																	111367947		2203	4300	6503	SO:0001583	missense	3621				cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding	g.chr13:111367947G>T		CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1	13q34	2013-01-28			ENSG00000153487	ENSG00000153487		"""Zinc fingers, PHD-type"""	6062	protein-coding gene	gene with protein product	"""inhibitor of growth 1"", ""tumor suppressor ING1"", ""growth inhibitor ING1"", ""growth inhibitory protein ING1"""	601566				8944021, 9186514	Standard	NM_198219		Approved	p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a	uc001vri.3	Q9UK53	OTTHUMG00000017346	ENST00000375774.3:c.157G>T	13.37:g.111367947G>T	ENSP00000364929:p.Asp53Tyr					ING1_ENST00000464141.1_Intron|ING1_ENST00000338450.7_Intron|ING1_ENST00000333219.7_Intron|ING1_ENST00000375775.3_Intron	p.D53Y	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		1	619	+	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		53					O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	Missense_Mutation	SNP	ENST00000375774.3	37	c.157G>T	CCDS9517.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.811642	0.32053	.	.	ENSG00000153487	ENST00000375774	T	0.36157	1.27	4.09	3.22	0.36961	.	0.497073	0.21517	N	0.073291	T	0.23054	0.0557	N	0.19112	0.55	0.24554	N	0.99401	B	0.14805	0.011	B	0.11329	0.006	T	0.20638	-1.0269	10	0.87932	D	0	-13.0933	8.7461	0.34587	0.0:0.0:0.7742:0.2258	.	53	Q9UK53	ING1_HUMAN	Y	53	ENSP00000364929:D53Y	ENSP00000364929:D53Y	D	+	1	0	ING1	110165948	1.000000	0.71417	0.990000	0.47175	0.746000	0.42486	1.236000	0.32683	0.887000	0.36136	0.561000	0.74099	GAT		0.592	ING1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045770.2	NM_005537		9	45	1	0	5.4927e-09	1	5.95043e-09	9	45				
BANP	54971	broad.mit.edu	37	16	88061220	88061220	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr16:88061220C>T	ENST00000393207.1	+	8	1224	c.1003C>T	c.(1003-1005)Cgg>Tgg	p.R335W	BANP_ENST00000479780.2_Missense_Mutation_p.R304W|BANP_ENST00000355022.4_Missense_Mutation_p.R304W|BANP_ENST00000393208.2_Missense_Mutation_p.R304W|BANP_ENST00000355163.5_Missense_Mutation_p.R310W|BANP_ENST00000286122.7_Missense_Mutation_p.R335W|BANP_ENST00000538234.1_Missense_Mutation_p.R343W	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	335	Interaction with CUX1 and HDAC1. {ECO:0000250}.|Necessary and sufficient for TP53 activation. {ECO:0000250}.				cell cycle (GO:0007049)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of protein catabolic process (GO:0042177)|protein localization to nucleus (GO:0034504)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		GAGCTTCTCGCGGAGAACGCC	0.682																																						ENST00000393207.1																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12						c.(1003-1005)Cgg>Tgg		BTG3 associated nuclear protein							57.0	62.0	60.0					16																	88061220		2198	4300	6498	SO:0001583	missense	54971				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr16:88061220C>T	AK094158	CCDS10966.2, CCDS42215.1, CCDS54052.1, CCDS54053.1, CCDS54054.1	16q24	2012-11-22			ENSG00000172530	ENSG00000172530		"""BEN domain containing"""	13450	protein-coding gene	gene with protein product	"""BEN domain containing 1"""	611564				10940556, 10950932	Standard	NM_017869		Approved	SMARBP1, SMAR1, FLJ20538, DKFZp761H172, FLJ10177, BEND1	uc010vow.2	Q8N9N5	OTTHUMG00000137678	ENST00000393207.1:c.1003C>T	16.37:g.88061220C>T	ENSP00000376902:p.Arg335Trp					BANP_ENST00000355163.5_Missense_Mutation_p.R310W|BANP_ENST00000393208.2_Missense_Mutation_p.R304W|BANP_ENST00000538234.1_Missense_Mutation_p.R343W|BANP_ENST00000479780.2_Missense_Mutation_p.R304W|BANP_ENST00000355022.4_Missense_Mutation_p.R304W|BANP_ENST00000286122.7_Missense_Mutation_p.R335W	p.R335W	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.00551)	8	1224	+			335			Interaction with CUX1 and HDAC1 (By similarity).|Necessary and sufficient for TP53 activation (By similarity).		A8MU25|A8MX25|B2RCF7|B4DNJ9|F5GZM0|Q96GJ7|Q9NWY1	Missense_Mutation	SNP	ENST00000393207.1	37	c.1003C>T	CCDS54054.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.467715	0.63625	.	.	ENSG00000172530	ENST00000286122;ENST00000355163;ENST00000289484;ENST00000479780;ENST00000393208;ENST00000540932;ENST00000355022;ENST00000538234;ENST00000393207	T;T;T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73;1.73;1.73	5.14	1.45	0.22620	.	0.052063	0.64402	D	0.000002	T	0.40094	0.1103	L	0.36672	1.1	0.29856	N	0.827996	P;P;D;D;D;D	0.89917	0.499;0.812;0.999;1.0;0.999;1.0	B;B;P;D;D;D	0.91635	0.07;0.168;0.825;0.994;0.916;0.999	T	0.47235	-0.9133	10	0.87932	D	0	.	15.878	0.79180	0.3195:0.6805:0.0:0.0	.	343;310;304;335;304;304	B4DE54;B4DNJ9;B2RCF7;Q8N9N5;Q8N9N5-2;Q8N9N5-4	.;.;.;BANP_HUMAN;.;.	W	335;310;300;304;304;304;304;343;335	ENSP00000286122:R335W;ENSP00000347290:R310W;ENSP00000432508:R304W;ENSP00000376903:R304W;ENSP00000347125:R304W;ENSP00000444352:R343W;ENSP00000376902:R335W	ENSP00000286122:R335W	R	+	1	2	BANP	86618721	0.135000	0.22499	0.506000	0.27664	0.953000	0.61014	0.671000	0.25172	0.432000	0.26286	0.462000	0.41574	CGG		0.682	BANP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269166.1	NM_017869		4	162	0	0	0	1	0	4	162				
SPHK2	56848	broad.mit.edu	37	19	49131530	49131530	+	Missense_Mutation	SNP	G	G	T			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr19:49131530G>T	ENST00000245222.4	+	6	1234	c.868G>T	c.(868-870)Ggg>Tgg	p.G290W	SPHK2_ENST00000598088.1_Missense_Mutation_p.G290W|SPHK2_ENST00000599748.1_Missense_Mutation_p.G254W|SPHK2_ENST00000443164.1_Missense_Mutation_p.G352W|SPHK2_ENST00000599029.1_Missense_Mutation_p.G254W|SPHK2_ENST00000601712.1_Missense_Mutation_p.G254W|SPHK2_ENST00000600537.1_Missense_Mutation_p.G231W|SPHK2_ENST00000340932.3_Missense_Mutation_p.G254W	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	290	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood vessel development (GO:0001568)|brain development (GO:0007420)|cell proliferation (GO:0008283)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate biosynthetic process (GO:0006669)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	ATP binding (GO:0005524)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|Ras GTPase binding (GO:0017016)|sphinganine kinase activity (GO:0008481)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GAACCAGCACGGGGGGTAGGT	0.622																																						ENST00000443164.1																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						c.(1054-1056)Ggg>Tgg		sphingosine kinase 2							33.0	37.0	35.0					19																	49131530		2199	4295	6494	SO:0001583	missense	56848				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity	g.chr19:49131530G>T	AF245447	CCDS12727.1, CCDS59404.1, CCDS59405.1, CCDS74414.1	19q13.33	2013-09-20			ENSG00000063176	ENSG00000063176			18859	protein-coding gene	gene with protein product		607092				10751414, 17895250	Standard	NM_020126		Approved		uc002pjs.3	Q9NRA0	OTTHUMG00000183318	ENST00000245222.4:c.868G>T	19.37:g.49131530G>T	ENSP00000245222:p.Gly290Trp					SPHK2_ENST00000245222.4_Missense_Mutation_p.G290W|SPHK2_ENST00000601712.1_Missense_Mutation_p.G254W|SPHK2_ENST00000600537.1_Missense_Mutation_p.G231W|SPHK2_ENST00000340932.3_Missense_Mutation_p.G254W|SPHK2_ENST00000599748.1_Missense_Mutation_p.G254W|SPHK2_ENST00000599029.1_Missense_Mutation_p.G254W|SPHK2_ENST00000598088.1_Missense_Mutation_p.G290W	p.G352W			Q9NRA0	SPHK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	4	1759	+		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)	290					A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Missense_Mutation	SNP	ENST00000245222.4	37	c.1054G>T	CCDS12727.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.177107	0.78564	.	.	ENSG00000063176	ENST00000245222;ENST00000406269;ENST00000340932;ENST00000443164	T;T;T	0.23552	1.9;1.9;1.9	4.28	4.28	0.50868	Diacylglycerol kinase, catalytic domain (3);	0.068018	0.56097	D	0.000029	T	0.42877	0.1222	L	0.41961	1.31	0.47476	D	0.99943	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.87578	0.979;0.998;0.998;0.998	T	0.38714	-0.9648	10	0.72032	D	0.01	-8.1299	14.5771	0.68255	0.0:0.0:1.0:0.0	.	231;352;254;290	B4DU87;A0T4C8;Q9NRA0-3;Q9NRA0	.;.;.;SPHK2_HUMAN	W	290;263;254;352	ENSP00000245222:G290W;ENSP00000341091:G254W;ENSP00000413369:G352W	ENSP00000245222:G290W	G	+	1	0	SPHK2	53823342	1.000000	0.71417	0.892000	0.35008	0.867000	0.49689	5.997000	0.70646	2.104000	0.64026	0.551000	0.68910	GGG		0.622	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466153.1			4	87	1	0	0.00909568	1	0.00927403	4	87				
TSHZ2	128553	broad.mit.edu	37	20	51871941	51871941	+	Silent	SNP	G	G	C			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr20:51871941G>C	ENST00000371497.5	+	2	2831	c.1944G>C	c.(1942-1944)ctG>ctC	p.L648L	TSHZ2_ENST00000603338.2_Silent_p.L645L|TSHZ2_ENST00000329613.6_Silent_p.L645L|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	648					multicellular organismal development (GO:0007275)|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(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AGACCGAGCTGGGTCCCCTGA	0.567																																						ENST00000371497.5																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84						c.(1942-1944)ctG>ctC		teashirt zinc finger homeobox 2							49.0	53.0	52.0					20																	51871941		2203	4300	6503	SO:0001819	synonymous_variant	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51871941G>C	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.1944G>C	20.37:g.51871941G>C						TSHZ2_ENST00000329613.6_Silent_p.L645L|TSHZ2_ENST00000603338.2_Silent_p.L645L	p.L648L	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	2831	+			648					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Silent	SNP	ENST00000371497.5	37	c.1944G>C	CCDS33490.1																																																																																				0.567	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		6	107	0	0	0	1	0	6	107				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		35	56	0	0	0	1	0	35	56				
RPTN	126638	broad.mit.edu	37	1	152127897	152127897	+	Missense_Mutation	SNP	C	C	T	rs575988132		TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr1:152127897C>T	ENST00000316073.3	-	3	1742	c.1678G>A	c.(1678-1680)Ggt>Agt	p.G560S		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	560	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TCTGTCTGACCGTAGTGGGAA	0.502													C|||	1	0.000199681	0.0008	0.0	5008	,	,		23257	0.0		0.0	False		,,,				2504	0.0					ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1678-1680)Ggt>Agt		repetin							656.0	584.0	606.0					1																	152127897		1568	3582	5150	SO:0001583	missense	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152127897C>T	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1678G>A	1.37:g.152127897C>T	ENSP00000317895:p.Gly560Ser						p.G560S	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	1742	-			560			Gln-rich.		B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	c.1678G>A	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.502510	0.26949	.	.	ENSG00000215853	ENST00000316073;ENST00000541545	T	0.16457	2.34	5.12	1.95	0.26073	.	.	.	.	.	T	0.04497	0.0123	M	0.66378	2.025	0.09310	N	1	P	0.35793	0.521	B	0.23275	0.045	T	0.34700	-0.9818	9	0.30078	T	0.28	0.0524	3.4999	0.07669	0.1617:0.4322:0.3149:0.0912	.	560	Q6XPR3	RPTN_HUMAN	S	560;215	ENSP00000317895:G560S	ENSP00000317895:G560S	G	-	1	0	RPTN	150394521	0.001000	0.12720	0.001000	0.08648	0.010000	0.07245	0.485000	0.22324	0.525000	0.28522	0.453000	0.30009	GGT		0.502	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		7	901	0	0	0	1	0	7	901				
FRMPD4	9758	broad.mit.edu	37	X	12725620	12725620	+	Silent	SNP	G	G	A			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chrX:12725620G>A	ENST00000380682.1	+	13	1826	c.1320G>A	c.(1318-1320)ctG>ctA	p.L440L		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	440	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TGACTCTCCTGGTTGGGCCCC	0.458																																						ENST00000380682.1																			0				breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						c.(1318-1320)ctG>ctA		FERM and PDZ domain containing 4							105.0	100.0	102.0					X																	12725620		2203	4300	6503	SO:0001819	synonymous_variant	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12725620G>A	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.1320G>A	X.37:g.12725620G>A							p.L440L	NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN			13	1826	+			440			FERM.		A8K0X9|O15032	Silent	SNP	ENST00000380682.1	37	c.1320G>A	CCDS35201.1																																																																																				0.458	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		5	154	0	0	0	1	0	5	154				
FRMD5	84978	broad.mit.edu	37	15	44176008	44176008	+	Splice_Site	SNP	C	C	G			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr15:44176008C>G	ENST00000417257.1	-	13	1205		c.e13-1		FRMD5_ENST00000484674.1_Splice_Site|FRMD5_ENST00000402883.1_Splice_Site	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5							cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		CATCCCTGCTCTGAGGTTAAA	0.498																																						ENST00000417257.1																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.e13-1		FERM domain containing 5							73.0	67.0	69.0					15																	44176008		2198	4298	6496	SO:0001630	splice_region_variant	84978					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr15:44176008C>G	BC007796	CCDS10107.2, CCDS73715.1, CCDS73716.1	15q15.3	2005-08-09			ENSG00000171877	ENSG00000171877			28214	protein-coding gene	gene with protein product							Standard	XM_005254729		Approved	MGC14161	uc001ztl.3	Q7Z6J6	OTTHUMG00000060475	ENST00000417257.1:c.1029-1G>C	15.37:g.44176008C>G						FRMD5_ENST00000484674.1_Splice_Site|FRMD5_ENST00000402883.1_Splice_Site		NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)	13	1205	-		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)						Q8NBG4	Splice_Site	SNP	ENST00000417257.1	37		CCDS10107.2	.	.	.	.	.	.	.	.	.	.	C	21.1	4.098343	0.76870	.	.	ENSG00000171877	ENST00000417257;ENST00000402883;ENST00000449926	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.234	0.89944	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FRMD5	41963300	1.000000	0.71417	0.999000	0.59377	0.833000	0.47200	7.186000	0.77722	2.884000	0.98904	0.655000	0.94253	.		0.498	FRMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133879.1	NM_032892	Intron	13	80	0	0	0	1	0	13	80				
PUSL1	126789	broad.mit.edu	37	1	1245216	1245216	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr1:1245216delC	ENST00000379031.5	+	5	706	c.629delC	c.(628-630)accfs	p.T210fs	PUSL1_ENST00000470520.1_3'UTR|CPSF3L_ENST00000462432.1_5'Flank|ACAP3_ENST00000354700.5_5'Flank|ACAP3_ENST00000353662.3_5'Flank	NM_153339.1	NP_699170.1	Q8N0Z8	PUSL1_HUMAN	pseudouridylate synthase-like 1	210					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			lung(3)|skin(1)|urinary_tract(1)	5	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCCTTGGTCACCCCCGAGGAG	0.667																																						ENST00000379031.5																			0				lung(3)|skin(1)|urinary_tract(1)	5						c.(628-630)acfs		pseudouridylate synthase-like 1							7.0	10.0	9.0					1																	1245216		2107	4120	6227	SO:0001589	frameshift_variant	126789				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr1:1245216delC	AK027721	CCDS20.1	1p36.33	2008-02-05			ENSG00000169972	ENSG00000169972			26914	protein-coding gene	gene with protein product						12477932	Standard	NM_153339		Approved	FLJ90811	uc001aed.3	Q8N0Z8	OTTHUMG00000003361	ENST00000379031.5:c.629delC	1.37:g.1245216delC	ENSP00000368318:p.Thr210fs					PUSL1_ENST00000470520.1_3'UTR	p.T210fs	NM_153339.1	NP_699170.1	Q8N0Z8	PUSL1_HUMAN		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	5	706	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	210					B4DP76|Q5TA41	Frame_Shift_Del	DEL	ENST00000379031.5	37	c.629delC	CCDS20.1																																																																																				0.667	PUSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009438.1	NM_153339		2	4						2	4	---	---	---	---
KLHDC7A	127707	broad.mit.edu	37	1	18807628	18807628	+	Silent	SNP	T	T	C			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr1:18807628T>C	ENST00000400664.1	+	1	205	c.153T>C	c.(151-153)aaT>aaC	p.N51N		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	51						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGGGTGGGAATGGCCAGGCAG	0.667																																						ENST00000400664.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(151-153)aaT>aaC		kelch domain containing 7A							24.0	28.0	27.0					1																	18807628		2012	4175	6187	SO:0001819	synonymous_variant	127707					integral to membrane		g.chr1:18807628T>C	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.153T>C	1.37:g.18807628T>C							p.N51N	NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	205	+		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)	51					Q8N8W6	Silent	SNP	ENST00000400664.1	37	c.153T>C	CCDS185.2																																																																																				0.667	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		6	43	0	0	0	1	0	6	43				
LOC101927533	101927533	broad.mit.edu	37	2	65738847	65738847	+	lincRNA	DEL	T	T	-	rs201837109|rs35572946		TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr2:65738847delT	ENST00000377977.3	+	0	862																											ttttTTGAAATTTTTTTTTTT	0.294																																						ENST00000377977.3																			0																																																			0							g.chr2:65738847delT																													2.37:g.65738847delT														0	862	+									RNA	DEL	ENST00000377977.3	37																																																																																						0.294	AC074391.1-010	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470883.1			2	4						2	4	---	---	---	---
TMEM184A	202915	broad.mit.edu	37	7	1586662	1586663	+	In_Frame_Ins	INS	-	-	GCC	rs3837151|rs3779607	byFrequency	TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr7:1586662_1586663insGCC	ENST00000297477.5	-	9	1483_1484	c.1167_1168insGGC	c.(1165-1170)cccagc>cccGGCagc	p.389_390PS>PGS	TMEM184A_ENST00000449955.1_5'Flank	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	389			S -> G (in dbSNP:rs3779607). {ECO:0000269|PubMed:15489334}.		germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGCCGCCGCTGGGGTGGGTGC	0.703																																						ENST00000297477.5																			0				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12						c.(1165-1170)ccgcgg>ccGGCgcgg		transmembrane protein 184A				1912,2170		535,842,664						-3.6	0.0		dbSNP_132	17	3872,4214		1028,1816,1199	no	coding	TMEM184A	NM_001097620.1		1563,2658,1863	A1A1,A1R,RR		47.8852,46.8398,47.5345				5784,6384				SO:0001652	inframe_insertion	202915					integral to membrane		g.chr7:1586662_1586663insGCC		CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.1167_1168insGGC	7.37:g.1586662_1586663insGCC	ENSP00000297477:p.Pro389_Ser390insGly						p.389_390PR>PAR	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)	9	1483_1484	-		Ovarian(82;0.0253)	389					Q8TBQ6	In_Frame_Ins	INS	ENST00000297477.5	37	c.1167_1168insGGC	CCDS43537.1																																																																																				0.703	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689		10	50						10	50	---	---	---	---
ESCO2	157570	broad.mit.edu	37	8	27634576	27634577	+	Frame_Shift_Ins	INS	-	-	A	rs80359854|rs80359853		TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr8:27634576_27634577insA	ENST00000305188.8	+	3	989_990	c.751_752insA	c.(751-753)gaafs	p.E251fs	ESCO2_ENST00000523910.1_3'UTR|ESCO2_ENST00000397418.2_5'UTR	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	251					chromosome segregation (GO:0007059)|double-strand break repair (GO:0006302)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|protein localization to chromatin (GO:0071168)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromocenter (GO:0010369)|Golgi apparatus (GO:0005794)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		GACTGTCAGTGAAAAAAAAACT	0.396									SC Phocomelia syndrome																													ENST00000305188.8																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	GRCh37	CI054453	ESCO2	I	rs80359852	c.(751-753)aaafs		establishment of sister chromatid cohesion N-acetyltransferase 2																																				SO:0001589	frameshift_variant	157570	SC Phocomelia syndrome	Familial Cancer Database	SC-Pseudothalidomide s., incl.: Roberts s.	cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr8:27634576_27634577insA	AF306679	CCDS34872.1	8p21.1	2013-05-02	2013-05-02		ENSG00000171320	ENSG00000171320			27230	protein-coding gene	gene with protein product		609353	"""Roberts syndrome"", ""establishment of cohesion 1 homolog 2 (S. cerevisiae)"""	RBS		15958495, 16775838, 15821733, 16380922	Standard	XR_247122		Approved	EFO2	uc003xgg.3	Q56NI9	OTTHUMG00000163901	ENST00000305188.8:c.760dupA	8.37:g.27634585_27634585dupA	ENSP00000306999:p.Glu251fs					ESCO2_ENST00000523910.1_3'UTR|ESCO2_ENST00000397418.2_5'UTR	p.K251fs	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)	3	989_990	+		Ovarian(32;0.000953)	251					B3KW59|Q49AP4	Frame_Shift_Ins	INS	ENST00000305188.8	37	c.751_752insA	CCDS34872.1																																																																																				0.396	ESCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376276.1	NM_001017420		7	123						7	123	---	---	---	---
FOXE1	2304	broad.mit.edu	37	9	100616701	100616706	+	In_Frame_Del	DEL	GCCGCC	GCCGCC	-	rs371516340|rs565664344|rs71369530	byFrequency	TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr9:100616701_100616706delGCCGCC	ENST00000375123.3	+	1	1166_1171	c.505_510delGCCGCC	c.(505-510)gccgccdel	p.AA177del		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	177	Ala-rich.|Poly-Ala.				anatomical structure morphogenesis (GO:0009653)|cell migration (GO:0016477)|embryonic organ morphogenesis (GO:0048562)|hair follicle morphogenesis (GO:0031069)|hard palate development (GO:0060022)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pharynx development (GO:0060465)|positive regulation of transcription, DNA-templated (GO:0045893)|soft palate development (GO:0060023)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				Ggctgccgcagccgccgccgccgccg	0.767																																						ENST00000375123.3																			0				central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(505-510)del		forkhead box E1 (thyroid transcription factor 2)																																				SO:0001651	inframe_deletion	2304				cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter 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	g.chr9:100616701_100616706delGCCGCC	U89995	CCDS35078.1	9q22	2008-09-05			ENSG00000178919	ENSG00000178919		"""Forkhead boxes"""	3806	protein-coding gene	gene with protein product		602617	"""forkhead box E2"""	FKHL15, TITF2, FOXE2		9169137, 9697705	Standard	NM_004473		Approved	TTF-2, HFKH4	uc004axu.3	O00358	OTTHUMG00000020333	ENST00000375123.3:c.505_510delGCCGCC	9.37:g.100616707_100616712delGCCGCC	ENSP00000364265:p.Ala177_Ala178del						p.AA177del	NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN			1	1166_1171	+		Acute lymphoblastic leukemia(62;0.158)	177			Ala-rich.|Poly-Ala.		O75765|Q5T109|Q99526	In_Frame_Del	DEL	ENST00000375123.3	37	c.505_510delGCCGCC	CCDS35078.1																																																																																				0.767	FOXE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053341.1			7	19						7	19	---	---	---	---
KRTAP5-2	440021	broad.mit.edu	37	11	1619173	1619202	+	In_Frame_Del	DEL	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	-	rs61869706|rs199811378|rs36134435|rs61869704|rs59506446	byFrequency	TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr11:1619173_1619202delCCCCCACAGGAGCCACAGCCCCCCTTGGAG	ENST00000412090.1	-	1	322_351	c.279_308delCTCCAAGGGGGGCTGTGGCTCCTGTGGGGG	c.(277-309)ggctccaaggggggctgtggctcctgtgggggt>ggt	p.93_103GSKGGCGSCGG>G	KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	93	6 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				large_intestine(1)|lung(2)|skin(1)	4		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCCTTGGAACCCCCACAGGAGCCACAGCCCCCCTTGGAGCCCCCACAGG	0.657																																						ENST00000412090.1																			0				large_intestine(1)|lung(2)|skin(1)	4						c.(277-309)ggt>gg		keratin associated protein 5-2																																				SO:0001651	inframe_deletion	440021					keratin filament		g.chr11:1619173_1619202delCCCCCACAGGAGCCACAGCCCCCCTTGGAG	AB126071	CCDS31331.1	11p15.5	2008-02-05				ENSG00000205867		"""Keratin associated proteins"""	23597	protein-coding gene	gene with protein product						15144888	Standard	NM_001004325		Approved	KRTAP5.2, KRTAP5-8	uc001ltv.3	Q701N4		ENST00000412090.1:c.279_308delCTCCAAGGGGGGCTGTGGCTCCTGTGGGGG	11.37:g.1619173_1619202delCCCCCACAGGAGCCACAGCCCCCCTTGGAG	ENSP00000400041:p.Gly103_Gly112del					KRTAP5-AS1_ENST00000424148.1_RNA	p.GSKGGCGSCGG93del	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	322_351	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	93			6 X 4 AA repeats of C-C-X-P.		A9JTZ1	In_Frame_Del	DEL	ENST00000412090.1	37	c.279_308delCTCCAAGGGGGGCTGTGGCTCCTGTGGGGG	CCDS31331.1																																																																																				0.657	KRTAP5-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384775.1	NM_001004325		93	402						93	402	---	---	---	---
KRTAP5-5	439915	broad.mit.edu	37	11	1651199	1651200	+	In_Frame_Ins	INS	-	-	GGCCGTGGCTCC	rs71025763|rs144216147	byFrequency	TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr11:1651199_1651200insGGCCGTGGCTCC	ENST00000399676.2	+	1	167_168	c.129_130insGGCCGTGGCTCC	c.(130-132)ggc>GGCCGTGGCTCCggc	p.44_44G>GRGSG		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	44						keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ccggctgtggaggctgtggggg	0.713																																						ENST00000399676.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33						c.(127-132)gggctg>ggGGCCGTGGCTCCgctg		keratin associated protein 5-5																																				SO:0001652	inframe_insertion	439915					keratin filament		g.chr11:1651199_1651200insGGCCGTGGCTCC	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"""Keratin associated proteins"""	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	Exception_encountered	11.37:g.1651199_1651200insGGCCGTGGCTCC	Exception_encountered						p.43_44GL>GAVAPL	NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	167_168	+		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	43	G -> GGCGS (in Ref. 1; BAD20201 and 2; CAF31639).				A8MWN2	In_Frame_Ins	INS	ENST00000399676.2	37	c.129_130insGGCCGTGGCTCC	CCDS41592.1																																																																																				0.713	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			37	118						37	118	---	---	---	---
KRT85	3891	broad.mit.edu	37	12	52757867	52757867	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr12:52757867delC	ENST00000257901.3	-	4	846	c.771delG	c.(769-771)aggfs	p.R258fs	KRT85_ENST00000544265.1_Frame_Shift_Del_p.R46fs	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	258	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CATAGAGGCGCCTCAGGAAGC	0.612																																						ENST00000257901.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(769-771)agfs		keratin 85							100.0	102.0	101.0					12																	52757867		2203	4300	6503	SO:0001589	frameshift_variant	3891				epidermis development	keratin filament	protein binding|structural molecule activity	g.chr12:52757867delC	X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6462	protein-coding gene	gene with protein product	"""hard keratin type II"""	602767	"""keratin, hair, basic, 5"""	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.771delG	12.37:g.52757867delC	ENSP00000257901:p.Arg258fs					KRT85_ENST00000544265.1_Frame_Shift_Del_p.R46fs	p.R258fs	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	4	846	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		258			Coil 1B.|Rod.		Q9NSB1	Frame_Shift_Del	DEL	ENST00000257901.3	37	c.771delG	CCDS8824.1																																																																																				0.612	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1	NM_002283		14	228						14	228	---	---	---	---
PDILT	204474	broad.mit.edu	37	16	20370700	20370702	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr16:20370700_20370702delCCA	ENST00000302451.4	-	12	1942_1944	c.1694_1696delTGG	c.(1693-1698)gtggct>gct	p.V565del		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	565					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TTTGGCTTAGCCACCACCACCAC	0.478																																						ENST00000302451.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						c.(1693-1698)gct>g		protein disulfide isomerase-like, testis expressed																																				SO:0001651	inframe_deletion	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20370700_20370702delCCA		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1694_1696delTGG	16.37:g.20370709_20370711delCCA	ENSP00000305465:p.Val565del						p.VA565del	NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN			12	1942_1944	-			565					Q8IVQ5	In_Frame_Del	DEL	ENST00000302451.4	37	c.1694_1696delTGG	CCDS10584.1																																																																																				0.478	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		7	312						7	312	---	---	---	---
DIDO1	11083	broad.mit.edu	37	20	61512380	61512381	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr20:61512380_61512381insG	ENST00000266070.4	-	16	5252_5253	c.4927_4928insC	c.(4927-4929)cgcfs	p.R1643fs	DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.R1643fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1643					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CGTGGCGGGGCGGGTGCCCTCC	0.728																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(4927-4929)cccfs		death inducer-obliterator 1																																				SO:0001589	frameshift_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61512380_61512381insG	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.4928dupC	20.37:g.61512383_61512383dupG	ENSP00000266070:p.Arg1643fs					DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.P1643fs	p.P1643fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	5252_5253	-	Breast(26;5.68e-08)		1643					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Frame_Shift_Ins	INS	ENST00000266070.4	37	c.4927_4928insC	CCDS33506.1																																																																																				0.728	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		14	40						14	40	---	---	---	---
MIR3687-2	103504728	broad.mit.edu	37	21	9825838	9825839	+	RNA	INS	-	-	GCG	rs372061766|rs369177681|rs563875271	byFrequency	TCGA-E8-A417-01A-21D-A23M-08	TCGA-E8-A417-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	056c1c3c-be5d-401f-8547-17d64cc476b8	dd964604-373e-41fe-a00d-e99ea229c759	g.chr21:9825838_9825839insGCG	ENST00000577708.1	+	0	0				MIR3648_ENST00000581792.1_RNA	NR_037458.1																						cggccgcgactgcggcggcggt	0.842																																						ENST00000581792.1																			0																																																			0							g.chr21:9825838_9825839insGCG																													21.37:g.9825845_9825847dupGCG								NR_037421.1						0	7_8	+									RNA	INS	ENST00000577708.1	37																																																																																						0.842	MIR3687-201	KNOWN	basic	miRNA	miRNA				5	7						5	7	---	---	---	---
