#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SPOCD1	90853	broad.mit.edu	37	1	32259746	32259746	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr1:32259746G>A	ENST00000360482.2	-	11	2491	c.2362C>T	c.(2362-2364)Ccc>Tcc	p.P788S	SPOCD1_ENST00000257100.3_Missense_Mutation_p.P281S|SPOCD1_ENST00000533231.1_Missense_Mutation_p.P788S|SPOCD1_ENST00000373648.2_3'UTR|RP11-84A19.3_ENST00000527035.1_RNA	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	788					negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TGGCAGTTGGGGTCTAAGAAG	0.637																																						ENST00000360482.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37						c.(2362-2364)Ccc>Tcc		SPOC domain containing 1							79.0	60.0	66.0					1																	32259746		2203	4300	6503	SO:0001583	missense	90853				transcription, DNA-dependent			g.chr1:32259746G>A	AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 146"""					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.2362C>T	1.37:g.32259746G>A	ENSP00000353670:p.Pro788Ser		Somatic				SPOCD1_ENST00000257100.3_Missense_Mutation_p.P281S|SPOCD1_ENST00000533231.1_Missense_Mutation_p.P788S|SPOCD1_ENST00000373648.2_3'UTR	p.P788S	NM_144569.4	NP_653170.3	WXS	Illumina GAIIx	Phase_I	Q6ZMY3	SPOC1_HUMAN		STAD - Stomach adenocarcinoma(196;0.18)	11	2491	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)	788					Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Missense_Mutation	SNP	ENST00000360482.2	37	c.2362C>T	CCDS347.1	.	.	.	.	.	.	.	.	.	.	G	7.580	0.668481	0.14776	.	.	ENSG00000134668	ENST00000257100;ENST00000360482;ENST00000294514;ENST00000452755;ENST00000533231;ENST00000449266	T;T;T;T	0.44083	0.96;1.94;0.93;1.93	5.07	4.15	0.48705	.	.	.	.	.	T	0.25827	0.0629	N	0.22421	0.69	0.80722	D	1	B;B;B	0.18461	0.005;0.028;0.003	B;B;B	0.18263	0.017;0.021;0.018	T	0.05533	-1.0879	9	0.15952	T	0.53	-12.9145	8.9854	0.35990	0.1055:0.0:0.8945:0.0	.	788;224;788	Q6ZMY3-2;E9PPM7;Q6ZMY3	.;.;SPOC1_HUMAN	S	281;788;185;224;788;131	ENSP00000257100:P281S;ENSP00000353670:P788S;ENSP00000399778:P224S;ENSP00000435851:P788S	ENSP00000257100:P281S	P	-	1	0	SPOCD1	32032333	1.000000	0.71417	0.990000	0.47175	0.496000	0.33645	1.189000	0.32114	1.250000	0.43966	0.557000	0.71058	CCC		0.637	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	NM_144569		17	36	17	36	---	---	---	---
C1orf177	163747	broad.mit.edu	37	1	55273356	55273356	+	Missense_Mutation	SNP	G	G	A	rs201438425	byFrequency	TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr1:55273356G>A	ENST00000371273.3	+	3	365	c.350G>A	c.(349-351)cGg>cAg	p.R117Q	C1orf177_ENST00000358193.3_Missense_Mutation_p.R117Q	NM_001110533.1	NP_001104003	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	117										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						AAAGAGAAGCGGCTGAAGGTG	0.617													G|||	2	0.000399361	0.0	0.0029	5008	,	,		16928	0.0		0.0	False		,,,				2504	0.0					ENST00000358193.3																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						c.(349-351)cGg>cAg		chromosome 1 open reading frame 177							36.0	36.0	36.0					1																	55273356		2203	4300	6503	SO:0001583	missense	163747							g.chr1:55273356G>A	AK097520	CCDS599.1, CCDS44153.1	1p32.3	2012-07-25			ENSG00000162398	ENSG00000162398			26854	protein-coding gene	gene with protein product							Standard	NM_152607		Approved	FLJ40201	uc001cyb.4	Q3ZCV2	OTTHUMG00000009986	ENST00000371273.3:c.350G>A	1.37:g.55273356G>A	ENSP00000360320:p.Arg117Gln		Somatic				C1orf177_ENST00000371273.3_Missense_Mutation_p.R117Q	p.R117Q	NM_152607.2	NP_689820	WXS	Illumina GAIIx	Phase_I	Q3ZCV2	CA177_HUMAN			3	404	+			117					B7WPL2|Q8N7Y9	Missense_Mutation	SNP	ENST00000371273.3	37	c.350G>A	CCDS44153.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	5.322	0.244789	0.10077	.	.	ENSG00000162398	ENST00000358193;ENST00000371273	T;T	0.22336	1.96;1.96	4.67	-5.63	0.02474	.	1.788920	0.03005	N	0.148736	T	0.08044	0.0201	N	0.02916	-0.46	0.09310	N	1	B;B	0.16396	0.017;0.017	B;B	0.10450	0.005;0.005	T	0.30357	-0.9981	10	0.13853	T	0.58	.	9.0164	0.36173	0.6803:0.0:0.2123:0.1074	.	117;117	Q3ZCV2;Q3ZCV2-2	CA177_HUMAN;.	Q	117	ENSP00000350924:R117Q;ENSP00000360320:R117Q	ENSP00000350924:R117Q	R	+	2	0	C1orf177	55045944	0.000000	0.05858	0.156000	0.22583	0.692000	0.40212	-1.339000	0.02652	-1.008000	0.03404	-1.105000	0.02106	CGG		0.617	C1orf177-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027674.1	NM_152607		4	14	4	14	---	---	---	---
KCND3	3752	broad.mit.edu	37	1	112525243	112525243	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr1:112525243T>A	ENST00000315987.2	-	2	585	c.106A>T	c.(106-108)Aag>Tag	p.K36*	KCND3_ENST00000369697.1_Nonsense_Mutation_p.K36*|KCND3_ENST00000302127.4_Nonsense_Mutation_p.K36*	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	36					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	TCCTGCCGCTTGTTCTTGTCG	0.687																																						ENST00000369697.1																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49						c.(106-108)Aag>Tag		potassium voltage-gated channel, Shal-related subfamily, member 3							45.0	44.0	44.0					1																	112525243		2203	4300	6503	SO:0001587	stop_gained	3752					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	g.chr1:112525243T>A	AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6239	protein-coding gene	gene with protein product		605411	"""spinocerebellar ataxia 22"", ""spinocerebellar ataxia 19"""	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.106A>T	1.37:g.112525243T>A	ENSP00000319591:p.Lys36*		Somatic				KCND3_ENST00000302127.4_Nonsense_Mutation_p.K36*|KCND3_ENST00000315987.2_Nonsense_Mutation_p.K36*	p.K36*			WXS	Illumina GAIIx	Phase_I	Q9UK17	KCND3_HUMAN		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	1	175	-		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)	36					O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Nonsense_Mutation	SNP	ENST00000315987.2	37	c.106A>T	CCDS843.1	.	.	.	.	.	.	.	.	.	.	T	38	7.110987	0.98070	.	.	ENSG00000171385	ENST00000369697;ENST00000315987;ENST00000302127	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.0923	0.72204	0.0:0.0:0.0:1.0	.	.	.	.	X	36	.	ENSP00000306923:K36X	K	-	1	0	KCND3	112326766	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.289000	0.72696	2.055000	0.61198	0.459000	0.35465	AAG		0.687	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198		5	51	5	51	---	---	---	---
WDR3	10885	broad.mit.edu	37	1	118484412	118484412	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr1:118484412A>G	ENST00000349139.5	+	9	978	c.931A>G	c.(931-933)Aaa>Gaa	p.K311E		NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	311						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TATCCTTTCCAAAAAGGAAAT	0.323																																						ENST00000349139.5																			0				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(931-933)Aaa>Gaa		WD repeat domain 3							83.0	83.0	83.0					1																	118484412		2203	4297	6500	SO:0001583	missense	10885					nuclear membrane|nucleolus		g.chr1:118484412A>G	AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"""WD repeat domain containing"""	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.931A>G	1.37:g.118484412A>G	ENSP00000308179:p.Lys311Glu		Somatic					p.K311E	NM_006784.2	NP_006775.1	WXS	Illumina GAIIx	Phase_I	Q9UNX4	WDR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)	9	978	+	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)							Missense_Mutation	SNP	ENST00000349139.5	37	c.931A>G	CCDS898.1	.	.	.	.	.	.	.	.	.	.	A	6.487	0.458121	0.12342	.	.	ENSG00000065183	ENST00000349139	T	0.81078	-1.45	5.48	3.19	0.36642	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.145674	0.64402	D	0.000009	T	0.21841	0.0526	N	0.00621	-1.32	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44636	-0.9315	10	0.02654	T	1	-5.1107	7.0821	0.25237	0.6869:0.0:0.3131:0.0	.	311	Q9UNX4	WDR3_HUMAN	E	311	ENSP00000308179:K311E	ENSP00000308179:K311E	K	+	1	0	WDR3	118285935	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	1.877000	0.39598	0.912000	0.36772	0.528000	0.53228	AAA		0.323	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033720.2	NM_006784		11	26	11	26	---	---	---	---
HFE2	148738	broad.mit.edu	37	1	145414854	145414854	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr1:145414854C>A	ENST00000336751.5	+	2	311	c.73C>A	c.(73-75)Ctc>Atc	p.L25I	HFE2_ENST00000497365.1_Intron|HFE2_ENST00000475797.1_Intron|HFE2_ENST00000357836.5_Intron	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	25					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|iron ion homeostasis (GO:0055072)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CACTCTCACTCTCCTGCTGCT	0.602																																						ENST00000336751.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14						c.(73-75)Ctc>Atc		hemochromatosis type 2 (juvenile)							106.0	89.0	95.0					1																	145414854		2203	4300	6503	SO:0001583	missense	148738				axon guidance	anchored to membrane		g.chr1:145414854C>A	AY372521	CCDS72877.1, CCDS72878.1, CCDS72879.1	1q21.2	2014-06-26			ENSG00000168509	ENSG00000168509			4887	protein-coding gene	gene with protein product	"""repulsive guidance molecule c"""	608374				10205270, 14647275	Standard	NM_213653		Approved	JH, HFE2A, RGMC, HJV, hemojuvelin, haemojuvelin	uc001eni.2	Q6ZVN8	OTTHUMG00000013748	ENST00000336751.5:c.73C>A	1.37:g.145414854C>A	ENSP00000337014:p.Leu25Ile		Somatic				HFE2_ENST00000497365.1_Intron|HFE2_ENST00000475797.1_Intron|HFE2_ENST00000357836.5_Intron	p.L25I	NM_213653.3	NP_998818.1	WXS	Illumina GAIIx	Phase_I	Q6ZVN8	RGMC_HUMAN			2	311	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		25					B1ALI7|Q2PQ63|Q6IMF6|Q8NAH2|Q8WVJ5	Missense_Mutation	SNP	ENST00000336751.5	37	c.73C>A	CCDS910.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.383039	0.61845	.	.	ENSG00000168509	ENST00000421822;ENST00000336751	D;D	0.94046	-2.4;-3.34	5.7	5.7	0.88788	Repulsive guidance molecule, N-terminal (1);	0.126422	0.34986	N	0.003537	D	0.93989	0.8075	L	0.59436	1.845	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.91438	0.5171	10	0.15066	T	0.55	-0.0471	15.3599	0.74464	0.0:1.0:0.0:0.0	.	25	Q6ZVN8	RGMC_HUMAN	I	25	ENSP00000411863:L25I;ENSP00000337014:L25I	ENSP00000337014:L25I	L	+	1	0	HFE2	144126211	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.263000	0.33004	2.703000	0.92315	0.580000	0.79431	CTC		0.602	HFE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038527.1	NM_145277		4	74	4	74	---	---	---	---
CIART	148523	broad.mit.edu	37	1	150259073	150259073	+	Missense_Mutation	SNP	G	G	A	rs147269137		TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr1:150259073G>A	ENST00000290363.5	+	5	1314	c.865G>A	c.(865-867)Ggc>Agc	p.G289S	C1orf51_ENST00000369095.1_Missense_Mutation_p.G289S|C1orf51_ENST00000369094.1_Missense_Mutation_p.G201S	NM_144697.2	NP_653298.1	Q8N365	CIART_HUMAN		289					circadian regulation of gene expression (GO:0032922)|locomotor rhythm (GO:0045475)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|E-box binding (GO:0070888)			endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACTGGAACCGGCATTGGCGT	0.552																																						ENST00000290363.5																			0				endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10						c.(865-867)Ggc>Agc		chromosome 1 open reading frame 51		G	SER/GLY	0,4406		0,0,2203	219.0	185.0	196.0		865	3.2	1.0	1	dbSNP_134	196	1,8599	1.2+/-3.3	0,1,4299	no	missense	C1orf51	NM_144697.2	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	289/386	150259073	1,13005	2203	4300	6503	SO:0001583	missense	148523							g.chr1:150259073G>A																												ENST00000290363.5:c.865G>A	1.37:g.150259073G>A	ENSP00000290363:p.Gly289Ser		Somatic				C1orf51_ENST00000369094.1_Missense_Mutation_p.G201S|C1orf51_ENST00000369095.1_Missense_Mutation_p.G289S	p.G289S	NM_144697.2	NP_653298.1	WXS	Illumina GAIIx	Phase_I	Q8N365	CA051_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		5	1314	+	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		289					B2RD43|D3DV01|Q8N795|Q96MG6	Missense_Mutation	SNP	ENST00000290363.5	37	c.865G>A	CCDS949.1	.	.	.	.	.	.	.	.	.	.	G	0.058	-1.231149	0.01518	0.0	1.16E-4	ENSG00000159208	ENST00000447007;ENST00000369095;ENST00000369094;ENST00000417398;ENST00000290363	.	.	.	5.51	3.23	0.37069	.	0.487638	0.23072	N	0.052244	T	0.01287	0.0042	N	0.00197	-1.87	0.25573	N	0.986875	B	0.06786	0.001	B	0.09377	0.004	T	0.47045	-0.9147	9	0.02654	T	1	-0.5123	6.5352	0.22350	0.7233:0.0:0.2767:0.0	.	289	Q8N365	CA051_HUMAN	S	201;289;201;201;289	.	ENSP00000290363:G289S	G	+	1	0	C1orf51	148525697	0.997000	0.39634	1.000000	0.80357	0.115000	0.19883	1.519000	0.35888	0.542000	0.28846	-0.367000	0.07326	GGC		0.552	C1orf51-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035058.1			5	156	5	156	---	---	---	---
PYHIN1	149628	broad.mit.edu	37	1	158943542	158943542	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr1:158943542C>A	ENST00000368140.1	+	8	1710	c.1465C>A	c.(1465-1467)Cca>Aca	p.P489T	PYHIN1_ENST00000392252.3_Intron|PYHIN1_ENST00000368138.3_Missense_Mutation_p.P480T|PYHIN1_ENST00000392254.2_Intron	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	489					cell cycle (GO:0007049)	nucleus (GO:0005634)				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					CAACCGCCATCCAGCAGTTCC	0.448																																						ENST00000368140.1																			0				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1465-1467)Cca>Aca		pyrin and HIN domain family, member 1							133.0	121.0	125.0					1																	158943542		2203	4300	6503	SO:0001583	missense	149628				cell cycle	nuclear speck		g.chr1:158943542C>A	AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.1465C>A	1.37:g.158943542C>A	ENSP00000357122:p.Pro489Thr		Somatic				PYHIN1_ENST00000392254.2_Intron|PYHIN1_ENST00000368138.3_Missense_Mutation_p.P480T|PYHIN1_ENST00000392252.3_Intron	p.P489T	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	WXS	Illumina GAIIx	Phase_I	Q6K0P9	IFIX_HUMAN			8	1710	+	all_hematologic(112;0.0378)		489					Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	ENST00000368140.1	37	c.1465C>A	CCDS1178.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.759239	0.31137	.	.	ENSG00000163564	ENST00000368140;ENST00000368138	T;T	0.06294	3.34;3.32	1.82	-0.2	0.13216	.	.	.	.	.	T	0.01489	0.0048	N	0.19112	0.55	0.09310	N	0.999998	D;P	0.53885	0.963;0.937	B;B	0.43809	0.432;0.249	T	0.44065	-0.9352	9	0.87932	D	0	.	4.0943	0.09983	0.0:0.5903:0.0:0.4097	.	480;489	Q6K0P9-2;Q6K0P9	.;IFIX_HUMAN	T	489;480	ENSP00000357122:P489T;ENSP00000357120:P480T	ENSP00000357120:P480T	P	+	1	0	PYHIN1	157210166	0.000000	0.05858	0.036000	0.18154	0.308000	0.27856	-1.821000	0.01713	-0.059000	0.13154	0.558000	0.71614	CCA		0.448	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501		16	90	16	90	---	---	---	---
FCGR2B	2213	broad.mit.edu	37	1	161642793	161642793	+	Silent	SNP	G	G	T	rs373559875		TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr1:161642793G>T	ENST00000358671.5	+	4	501	c.420G>T	c.(418-420)ctG>ctT	p.L140L	FCGR2B_ENST00000428605.2_Silent_p.L140L|FCGR2B_ENST00000236937.9_Silent_p.L140L|FCGR2B_ENST00000367960.5_Silent_p.L133L|FCGR2B_ENST00000403078.3_Silent_p.L140L|RP11-25K21.1_ENST00000453111.1_RNA|FCGR2B_ENST00000367961.4_Silent_p.L133L|FCGR2B_ENST00000367962.4_Silent_p.L140L	NM_001002275.2|NM_004001.4	NP_001002275.1|NP_003992.3	P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)	140	Ig-like C2-type 2.				immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)						all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Antithymocyte globulin(DB00098)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCCCTCACCTGGAGTTCCAGG	0.532			T	?	ALL																																	ENST00000367962.4				Dom	yes		1	1q23	2213	T	"""Fc fragment of IgG, low affinity IIb, receptor for (CD32)"""			L	?		ALL		0											c.(418-420)ctG>ctT		Fc fragment of IgG, low affinity IIb, receptor (CD32)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						15.0	20.0	18.0					1																	161642793		2166	4295	6461	SO:0001819	synonymous_variant	2213				immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161642793G>T	BC031992	CCDS30924.1, CCDS30925.1, CCDS53414.1	1q23	2013-01-11	2005-02-02		ENSG00000072694	ENSG00000072694		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3618	protein-coding gene	gene with protein product		604590	"""Fc fragment of IgG, low affinity IIb, receptor for (CD32)"""	FCG2, FCGR2		2139735	Standard	NM_004001		Approved	CD32, CD32B	uc001gaz.2	P31994	OTTHUMG00000034470	ENST00000358671.5:c.420G>T	1.37:g.161642793G>T			Somatic				FCGR2B_ENST00000367961.4_Silent_p.L133L|FCGR2B_ENST00000236937.9_Silent_p.L140L|FCGR2B_ENST00000358671.5_Silent_p.L140L|FCGR2B_ENST00000428605.2_Silent_p.L140L|FCGR2B_ENST00000367960.5_Silent_p.L133L|FCGR2B_ENST00000403078.3_Silent_p.L140L|RP11-25K21.1_ENST00000453111.1_RNA	p.L140L			WXS	Illumina GAIIx	Phase_I	P31994	FCG2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		4	547	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		140			Ig-like C2-type 2.		A6H8N3|O95649|Q53X85|Q5VXA9|Q8NIA1	Silent	SNP	ENST00000358671.5	37	c.420G>T	CCDS30924.1																																																																																				0.532	FCGR2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000083337.4	NM_004001		4	35	4	35	---	---	---	---
ACTA1	58	broad.mit.edu	37	1	229568848	229568848	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr1:229568848G>T	ENST00000366684.3	-	2	117	c.15C>A	c.(13-15)gaC>gaA	p.D5E	ACTA1_ENST00000366683.2_Missense_Mutation_p.D5E	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	5					cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)	p.D5D(1)		endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				CGGTGGTCTCGTCTTCGTCGC	0.657																																						ENST00000366684.3																			1	Substitution - coding silent(1)	p.D5D(1)	endometrium(1)	endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28						c.(13-15)gaC>gaA		actin, alpha 1, skeletal muscle	Dornase Alfa(DB00003)						64.0	66.0	65.0					1																	229568848		2203	4300	6503	SO:0001583	missense	58				muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton	g.chr1:229568848G>T	J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"""nemaline myopathy type 3"""	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.15C>A	1.37:g.229568848G>T	ENSP00000355645:p.Asp5Glu		Somatic				ACTA1_ENST00000366683.2_Missense_Mutation_p.D5E	p.D5E	NM_001100.3	NP_001091.1	WXS	Illumina GAIIx	Phase_I	P68133	ACTS_HUMAN			2	117	-	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)	5					P02568|P99020|Q5T8M9	Missense_Mutation	SNP	ENST00000366684.3	37	c.15C>A	CCDS1578.1	.	.	.	.	.	.	.	.	.	.	G	9.163	1.019279	0.19355	.	.	ENSG00000143632	ENST00000366684;ENST00000308794;ENST00000366683;ENST00000366682;ENST00000342787	D;D	0.97279	-4.32;-3.48	4.77	1.62	0.23740	.	0.345104	0.29286	N	0.012589	D	0.86628	0.5978	N	0.04018	-0.295	0.22873	N	0.998628	B	0.02656	0.0	B	0.04013	0.001	T	0.76476	-0.2945	10	0.05721	T	0.95	.	4.0372	0.09735	0.2515:0.3782:0.3702:0.0	.	5	P68133	ACTS_HUMAN	E	5	ENSP00000355645:D5E;ENSP00000355644:D5E	ENSP00000312351:D5E	D	-	3	2	ACTA1	227635471	0.142000	0.22610	1.000000	0.80357	0.904000	0.53231	-0.530000	0.06179	0.611000	0.30052	-0.175000	0.13238	GAC		0.657	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092781.1	NM_001100		38	93	38	93	---	---	---	---
FAM179A	165186	broad.mit.edu	37	2	29247231	29247231	+	Missense_Mutation	SNP	C	C	T	rs373300546		TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr2:29247231C>T	ENST00000379558.4	+	13	2195	c.1844C>T	c.(1843-1845)gCg>gTg	p.A615V	FAM179A_ENST00000403861.2_Missense_Mutation_p.A560V|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	615										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CTCACCTCGGCGGGTGTCTAG	0.617																																						ENST00000379558.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1843-1845)gCg>gTg		family with sequence similarity 179, member A		C	VAL/ALA	0,4024		0,0,2012	32.0	33.0	32.0		1844	3.1	0.1	2		32	1,8369		0,1,4184	no	missense	FAM179A	NM_199280.2	64	0,1,6196	TT,TC,CC		0.0119,0.0,0.0081	benign	615/1020	29247231	1,12393	2012	4185	6197	SO:0001583	missense	165186						binding	g.chr2:29247231C>T	AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.1844C>T	2.37:g.29247231C>T	ENSP00000368876:p.Ala615Val		Somatic				FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Missense_Mutation_p.A560V	p.A615V	NM_199280.2	NP_954974.2	WXS	Illumina GAIIx	Phase_I	Q6ZUX3	F179A_HUMAN			13	2195	+			615					Q6ZUF5	Missense_Mutation	SNP	ENST00000379558.4	37	c.1844C>T	CCDS1769.2	.	.	.	.	.	.	.	.	.	.	C	10.15	1.270616	0.23221	0.0	1.19E-4	ENSG00000189350	ENST00000401723;ENST00000379558;ENST00000403861;ENST00000440012	T;T;T;T	0.14391	2.51;2.51;2.51;2.51	4.99	3.13	0.36017	Armadillo-like helical (1);Armadillo-type fold (1);CLASP N-terminal domain (1);	0.289012	0.29551	N	0.011832	T	0.07863	0.0197	L	0.29908	0.895	0.09310	N	0.999994	B;B	0.22211	0.054;0.066	B;B	0.14578	0.007;0.011	T	0.26538	-1.0100	10	0.27082	T	0.32	.	3.5981	0.08014	0.1264:0.4256:0.3467:0.1013	.	560;615	F8W8E4;Q6ZUX3	.;F179A_HUMAN	V	50;615;560;110	ENSP00000384897:A50V;ENSP00000368876:A615V;ENSP00000384699:A560V;ENSP00000396739:A110V	ENSP00000368876:A615V	A	+	2	0	FAM179A	29100735	0.007000	0.16637	0.069000	0.20011	0.256000	0.26092	0.830000	0.27462	1.087000	0.41251	0.462000	0.41574	GCG		0.617	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		4	14	4	14	---	---	---	---
CEBPZ	10153	broad.mit.edu	37	2	37455178	37455178	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr2:37455178T>G	ENST00000234170.5	-	2	1303	c.1158A>C	c.(1156-1158)caA>caC	p.Q386H		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	386					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TATTTACCACTTGCACAAGAA	0.413																																						ENST00000234170.5																			0				breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(1156-1158)caA>caC		CCAAT/enhancer binding protein (C/EBP), zeta							105.0	110.0	108.0					2																	37455178		2203	4300	6503	SO:0001583	missense	10153				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr2:37455178T>G	M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.1158A>C	2.37:g.37455178T>G	ENSP00000234170:p.Gln386His		Somatic					p.Q386H	NM_005760.2	NP_005751.2	WXS	Illumina GAIIx	Phase_I	Q03701	CEBPZ_HUMAN			2	1303	-		all_hematologic(82;0.21)	386					Q8NE75	Missense_Mutation	SNP	ENST00000234170.5	37	c.1158A>C	CCDS1787.1	.	.	.	.	.	.	.	.	.	.	T	2.975	-0.211657	0.06140	.	.	ENSG00000115816	ENST00000234170;ENST00000545744	T	0.12879	2.64	5.31	-1.88	0.07713	Armadillo-type fold (1);	0.120500	0.64402	D	0.000020	T	0.11452	0.0279	L	0.57536	1.79	0.39380	D	0.966243	B	0.20550	0.046	B	0.18871	0.023	T	0.07558	-1.0766	10	0.40728	T	0.16	.	7.1889	0.25814	0.0:0.4238:0.1092:0.467	.	386	Q03701	CEBPZ_HUMAN	H	386	ENSP00000234170:Q386H	ENSP00000234170:Q386H	Q	-	3	2	CEBPZ	37308682	0.654000	0.27367	0.980000	0.43619	0.685000	0.39939	-0.090000	0.11163	-0.457000	0.07033	-1.357000	0.01221	CAA		0.413	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2	NM_005760		39	95	39	95	---	---	---	---
ERMN	57471	broad.mit.edu	37	2	158181230	158181230	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr2:158181230C>T	ENST00000410096.1	-	2	577	c.286G>A	c.(286-288)Gat>Aat	p.D96N	ERMN_ENST00000397283.2_Missense_Mutation_p.D109N|ERMN_ENST00000409216.1_Missense_Mutation_p.D96N|ERMN_ENST00000535935.1_5'UTR|ERMN_ENST00000409925.1_Missense_Mutation_p.D96N|ERMN_ENST00000420719.2_Intron	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	96					actin filament organization (GO:0007015)|morphogenesis of a branching structure (GO:0001763)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|internode region of axon (GO:0033269)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|paranode region of axon (GO:0033270)				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						AGAGAAAGATCTGTGATAGCC	0.303																																						ENST00000410096.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						c.(286-288)Gat>Aat		ermin, ERM-like protein							123.0	112.0	115.0					2																	158181230		1824	4074	5898	SO:0001583	missense	57471					cytoplasm|cytoskeleton		g.chr2:158181230C>T	AB033015	CCDS42764.1, CCDS46431.1	2q24	2008-02-05	2008-01-15	2008-01-15	ENSG00000136541	ENSG00000136541			29208	protein-coding gene	gene with protein product	"""juxtanodin"", ""ermin"""	610072	"""KIAA1189"""	KIAA1189		16051705, 16421295	Standard	NM_020711		Approved	JN, ERMIN	uc002tzi.3	Q8TAM6	OTTHUMG00000153843	ENST00000410096.1:c.286G>A	2.37:g.158181230C>T	ENSP00000387047:p.Asp96Asn		Somatic				ERMN_ENST00000397283.2_Missense_Mutation_p.D109N|ERMN_ENST00000535935.1_5'UTR|ERMN_ENST00000409216.1_Missense_Mutation_p.D96N|ERMN_ENST00000420719.2_Intron|ERMN_ENST00000409925.1_Missense_Mutation_p.D96N	p.D96N	NM_020711.1	NP_065762.1	WXS	Illumina GAIIx	Phase_I	Q8TAM6	ERMIN_HUMAN			2	577	-			96					B4DKA6|Q9ULN1	Missense_Mutation	SNP	ENST00000410096.1	37	c.286G>A	CCDS46431.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.145909	0.77888	.	.	ENSG00000136541	ENST00000410096;ENST00000397283;ENST00000420317;ENST00000411762;ENST00000409216;ENST00000409925;ENST00000419116	T;T	0.52526	0.66;0.66	6.07	4.08	0.47627	.	0.193772	0.36703	N	0.002442	T	0.28267	0.0698	N	0.19112	0.55	0.80722	D	1	B;B	0.22414	0.069;0.069	B;B	0.19946	0.027;0.027	T	0.08806	-1.0704	10	0.29301	T	0.29	-18.5394	6.2414	0.20793	0.0:0.7584:0.0:0.2416	.	109;96	Q8TAM6-2;Q8TAM6	.;ERMIN_HUMAN	N	96;109;96;96;96;96;93	ENSP00000387049:D96N;ENSP00000387325:D96N	ENSP00000380453:D109N	D	-	1	0	ERMN	157889476	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.018000	0.30002	1.584000	0.49913	-0.137000	0.14449	GAT		0.303	ERMN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332659.1	NM_001009959		9	32	9	32	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179558355	179558355	+	Missense_Mutation	SNP	C	C	A	rs188251302		TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr2:179558355C>A	ENST00000591111.1	-	117	30848	c.30624G>T	c.(30622-30624)agG>agT	p.R10208S	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.R10525S|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R9281S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGGTTCAACCCTTTTGGAAA	0.289													C|||	1	0.000199681	0.0	0.0	5008	,	,		17976	0.001		0.0	False		,,,				2504	0.0					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.(31573-31575)agG>agT		titin							57.0	59.0	58.0					2																	179558355		1792	4063	5855	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179558355C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.30624G>T	2.37:g.179558355C>A	ENSP00000465570:p.Arg10208Ser		Somatic				TTN_ENST00000342992.6_Missense_Mutation_p.R9281S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.R10208S|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron	p.R10525S	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		119	31799	-			10208			Glu-rich.|Pro-rich.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.31575G>T		2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	16.52	3.145929	0.57044	.	.	ENSG00000155657	ENST00000342992;ENST00000414766;ENST00000473181	T	0.63417	-0.04	5.85	4.79	0.61399	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.40297	0.1111	N	0.08118	0	0.80722	D	1	B;B	0.15930	0.0;0.015	B;B	0.18561	0.0;0.022	T	0.38045	-0.9679	9	0.87932	D	0	.	7.667	0.28437	0.1671:0.7405:0.0:0.0924	.	10208;10208	Q8WZ42;Q8WZ42-5	TITIN_HUMAN;.	S	9281;403;35	ENSP00000343764:R9281S	ENSP00000343764:R9281S	R	-	3	2	TTN	179266600	0.983000	0.35010	1.000000	0.80357	0.982000	0.71751	1.690000	0.37711	2.773000	0.95371	0.650000	0.86243	AGG		0.289	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	20	3	20	---	---	---	---
PRSS50	29122	broad.mit.edu	37	3	46757061	46757061	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr3:46757061G>A	ENST00000460241.1	-	8	2104	c.434C>T	c.(433-435)tCc>tTc	p.S145F	PRSS50_ENST00000315170.7_Missense_Mutation_p.S145F			Q9UI38	TSP50_HUMAN	protease, serine, 50	145	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	serine-type endopeptidase activity (GO:0004252)|threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						CACCCACTGGGAGGCAATGAT	0.647																																					Pancreas(41;915 1239 11561 17469)	ENST00000460241.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(433-435)tCc>tTc		protease, serine, 50							68.0	52.0	57.0					3																	46757061		2202	4300	6502	SO:0001583	missense	29122				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity	g.chr3:46757061G>A	AF100707	CCDS2745.1	3p21.31	2011-05-24			ENSG00000206549	ENSG00000206549		"""Serine peptidases / Serine peptidases"""	17910	protein-coding gene	gene with protein product	"""cancer/testis antigen 20"", ""testes specific protease 50"""	607950				10397268	Standard	NM_013270		Approved	TSP50, CT20	uc003cqe.1	Q9UI38	OTTHUMG00000164067	ENST00000460241.1:c.434C>T	3.37:g.46757061G>A	ENSP00000418875:p.Ser145Phe		Somatic				PRSS50_ENST00000315170.7_Missense_Mutation_p.S145F	p.S145F			WXS	Illumina GAIIx	Phase_I	Q9UI38	TSP50_HUMAN			8	2104	-			145			Peptidase S1.			Missense_Mutation	SNP	ENST00000460241.1	37	c.434C>T	CCDS2745.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.264738	0.40095	.	.	ENSG00000206549	ENST00000455218;ENST00000315170;ENST00000460241	D;D	0.82433	-1.61;-1.61	4.13	2.28	0.28536	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.199434	0.25291	N	0.031732	D	0.86447	0.5935	M	0.68728	2.09	0.31162	N	0.704235	D	0.56521	0.976	P	0.59703	0.862	D	0.84781	0.0773	10	0.62326	D	0.03	.	9.3538	0.38153	0.0:0.0:0.6135:0.3865	.	145	Q9UI38	TSP50_HUMAN	F	59;145;145	ENSP00000326598:S145F;ENSP00000418875:S145F	ENSP00000326598:S145F	S	-	2	0	PRSS50	46732065	0.000000	0.05858	0.681000	0.30009	0.678000	0.39670	-0.199000	0.09491	0.653000	0.30826	0.655000	0.94253	TCC		0.647	PRSS50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354544.1			8	22	8	22	---	---	---	---
H2AFZ	3015	broad.mit.edu	37	4	100870896	100870896	+	Splice_Site	SNP	G	G	C			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr4:100870896G>C	ENST00000296417.5	-	2	222	c.5C>G	c.(4-6)gCt>gGt	p.A2G	RP11-15B17.1_ENST00000507494.1_RNA|RP11-15B17.1_ENST00000514624.1_RNA|H2AFZ_ENST00000529158.1_5'UTR|RP11-15B17.1_ENST00000501976.2_RNA	NM_002106.3	NP_002097.1	P0C0S5	H2AZ_HUMAN	H2A histone family, member Z	2	Required for interaction with INCENP. {ECO:0000250}.				cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular vesicular exosome (GO:0070062)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			breast(1)|endometrium(3)|lung(1)	5				OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)		CTTACCGCCAGCCTGCGGCGC	0.662																																						ENST00000296417.5																			0				breast(1)|endometrium(3)|lung(1)	5						c.(4-6)gCt>gGt		H2A histone family, member Z							58.0	67.0	64.0					4																	100870896		2203	4300	6503	SO:0001630	splice_region_variant	3015				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr4:100870896G>C	X52317	CCDS3654.1	4q23	2011-01-27			ENSG00000164032	ENSG00000164032		"""Histones / Replication-independent"""	4741	protein-coding gene	gene with protein product		142763		H2AZ		1697587	Standard	XM_005262971		Approved	H2A.Z	uc003hvo.1	P0C0S5	OTTHUMG00000131048	ENST00000296417.5:c.4-1C>G	4.37:g.100870896G>C			Somatic				H2AFZ_ENST00000529158.1_5'UTR	p.A2G	NM_002106.3	NP_002097.1	WXS	Illumina GAIIx	Phase_I	P0C0S5	H2AZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)	2	222	-			2			Required for interaction with INCENP (By similarity).		B2RD56|P17317|Q6I9U0	Splice_Site	SNP	ENST00000296417.5	37	c.5C>G	CCDS3654.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887877	0.72410	.	.	ENSG00000164032	ENST00000296417	D	0.83837	-1.77	2.51	2.51	0.30379	Histone-fold (1);	0.836455	0.10906	N	0.621121	T	0.77322	0.4113	L	0.28115	0.83	0.80722	D	1	P	0.38711	0.643	B	0.41691	0.364	T	0.76841	-0.2810	10	0.66056	D	0.02	0.789	13.3861	0.60797	0.0:0.0:1.0:0.0	.	2	P0C0S5	H2AZ_HUMAN	G	2	ENSP00000296417:A2G	ENSP00000296417:A2G	A	-	2	0	H2AFZ	101089919	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.238000	0.89809	1.419000	0.47118	0.455000	0.32223	GCT		0.662	H2AFZ-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000253695.1	NM_002106	Missense_Mutation	34	61	34	61	---	---	---	---
ADCY2	108	broad.mit.edu	37	5	7698397	7698397	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr5:7698397G>A	ENST00000338316.4	+	7	1108	c.1019G>A	c.(1018-1020)tGc>tAc	p.C340Y	ADCY2_ENST00000537121.1_Missense_Mutation_p.C160Y	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	340					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TTAGGAGACTGCTACTACTGT	0.393																																						ENST00000338316.4																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(1018-1020)tGc>tAc		adenylate cyclase 2 (brain)							158.0	163.0	161.0					5																	7698397		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7698397G>A	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1019G>A	5.37:g.7698397G>A	ENSP00000342952:p.Cys340Tyr		Somatic				ADCY2_ENST00000537121.1_Missense_Mutation_p.C160Y	p.C340Y	NM_020546.2	NP_065433.2	WXS	Illumina GAIIx	Phase_I	Q08462	ADCY2_HUMAN			7	1108	+			340					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.1019G>A	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	G	27.0	4.791981	0.90453	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	D;D	0.84800	-1.9;-1.9	5.8	5.8	0.92144	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.95376	0.8499	H	0.96269	3.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.96191	0.9138	10	0.87932	D	0	.	20.0545	0.97645	0.0:0.0:1.0:0.0	.	160;340	B7Z2C1;Q08462	.;ADCY2_HUMAN	Y	340;191;160	ENSP00000342952:C340Y;ENSP00000444803:C160Y	ENSP00000342952:C340Y	C	+	2	0	ADCY2	7751397	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.470000	0.97683	2.748000	0.94277	0.655000	0.94253	TGC		0.393	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		28	94	28	94	---	---	---	---
RGMB	285704	broad.mit.edu	37	5	98115452	98115452	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr5:98115452A>G	ENST00000513185.1	+	2	741	c.305A>G	c.(304-306)aAc>aGc	p.N102S	RGMB_ENST00000308234.7_Missense_Mutation_p.N143S|RGMB_ENST00000504776.1_3'UTR			Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	102					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell adhesion (GO:0007155)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)	identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		TGCCGTGGCAACCTGGTATAC	0.547																																						ENST00000308234.7																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10						c.(427-429)aAc>aGc		repulsive guidance molecule family member b							70.0	71.0	71.0					5																	98115452		1966	4153	6119	SO:0001583	missense	285704				axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding	g.chr5:98115452A>G	AK074887	CCDS47251.1	5q21.1	2013-11-06	2013-11-06		ENSG00000174136	ENSG00000174136			26896	protein-coding gene	gene with protein product		612687	"""RGM domain family, member B"""			19324014	Standard	NM_001012761		Approved	FLJ90406, DRAGON	uc003knc.3	Q6NW40	OTTHUMG00000162745	ENST00000513185.1:c.305A>G	5.37:g.98115452A>G	ENSP00000423256:p.Asn102Ser		Somatic				RGMB_ENST00000513185.1_Missense_Mutation_p.N102S|RGMB_ENST00000504776.1_3'UTR	p.N143S	NM_001012761.2	NP_001012779.2	WXS	Illumina GAIIx	Phase_I	Q6NW40	RGMB_HUMAN		COAD - Colon adenocarcinoma(37;0.0587)	4	830	+		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)	102					D6R9A0|Q8NC92	Missense_Mutation	SNP	ENST00000513185.1	37	c.428A>G		.	.	.	.	.	.	.	.	.	.	A	22.9	4.350404	0.82132	.	.	ENSG00000174136	ENST00000308234;ENST00000513185	D;D	0.97620	-4.46;-4.46	5.4	5.4	0.78164	Repulsive guidance molecule, N-terminal (1);	0.040660	0.85682	D	0.000000	D	0.97967	0.9331	M	0.70595	2.14	0.80722	D	1	D	0.71674	0.998	D	0.67382	0.951	D	0.98362	1.0549	10	0.51188	T	0.08	-30.3943	15.7042	0.77565	1.0:0.0:0.0:0.0	.	102	Q6NW40	RGMB_HUMAN	S	143;102	ENSP00000308219:N143S;ENSP00000423256:N102S	ENSP00000308219:N143S	N	+	2	0	RGMB	98143352	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.910000	0.92685	2.171000	0.68590	0.460000	0.39030	AAC		0.547	RGMB-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370308.1	NM_173670		9	38	9	38	---	---	---	---
MEGF10	84466	broad.mit.edu	37	5	126791206	126791206	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr5:126791206G>A	ENST00000274473.6	+	25	3406	c.3139G>A	c.(3139-3141)Ggt>Agt	p.G1047S	MEGF10_ENST00000503335.2_Missense_Mutation_p.G1047S|MEGF10_ENST00000510828.1_3'UTR	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	1047	Necessary for formation of large intracellular vacuoles.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CTCAGAGTGTGGTTATGTGGA	0.428																																						ENST00000274473.6																			0				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(3139-3141)Ggt>Agt		multiple EGF-like-domains 10							112.0	118.0	116.0					5																	126791206		2203	4300	6503	SO:0001583	missense	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126791206G>A	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.3139G>A	5.37:g.126791206G>A	ENSP00000274473:p.Gly1047Ser		Somatic				MEGF10_ENST00000510828.1_3'UTR|MEGF10_ENST00000503335.2_Missense_Mutation_p.G1047S	p.G1047S	NM_032446.2	NP_115822.1	WXS	Illumina GAIIx	Phase_I	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	25	3406	+		Prostate(80;0.165)	1047			Necessary for formation of large intracellular vacuoles.		Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	c.3139G>A	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	G	9.335	1.061409	0.19987	.	.	ENSG00000145794	ENST00000503335;ENST00000274473	T;T	0.69806	-0.43;-0.43	5.4	5.4	0.78164	.	0.000000	0.64402	D	0.000001	T	0.53965	0.1829	N	0.20530	0.585	0.58432	D	0.999998	B	0.19073	0.033	B	0.22386	0.039	T	0.48399	-0.9039	10	0.15066	T	0.55	-27.4736	19.5463	0.95299	0.0:0.0:1.0:0.0	.	1047	Q96KG7	MEG10_HUMAN	S	1047	ENSP00000423354:G1047S;ENSP00000274473:G1047S	ENSP00000274473:G1047S	G	+	1	0	MEGF10	126819105	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	6.297000	0.72757	2.679000	0.91253	0.655000	0.94253	GGT		0.428	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		37	75	37	75	---	---	---	---
SLC23A1	9963	broad.mit.edu	37	5	138714919	138714919	+	Silent	SNP	G	G	T			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr5:138714919G>T	ENST00000348729.3	-	9	1096	c.1050C>A	c.(1048-1050)ccC>ccA	p.P350P	SLC23A1_ENST00000353963.3_Silent_p.P354P|SLC23A1_ENST00000503919.1_5'Flank	NM_005847.4	NP_005838	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1	350					brain development (GO:0007420)|dehydroascorbic acid transport (GO:0070837)|L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|lung development (GO:0030324)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|brush border (GO:0005903)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular organelle (GO:0043229)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dehydroascorbic acid transporter activity (GO:0033300)|L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium ion transmembrane transporter activity (GO:0015081)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	GTACTGGAGGGGGTGGTGCAC	0.607																																						ENST00000353963.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19						c.(1060-1062)ccC>ccA		solute carrier family 23 (ascorbic acid transporter), member 1	Vitamin C(DB00126)						110.0	107.0	108.0					5																	138714919		2203	4300	6503	SO:0001819	synonymous_variant	9963				brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity	g.chr5:138714919G>T	AF058317	CCDS4212.1, CCDS4213.1	5q31.2	2013-07-18	2013-07-18	2003-03-21	ENSG00000170482	ENSG00000170482		"""Solute carriers"""	10974	protein-coding gene	gene with protein product		603790	"""solute carrier family 23 (nucleobase transporters), member 2"""	SLC23A2		9804989, 10331392	Standard	NM_005847		Approved	YSPL3, SVCT1	uc003leg.3	Q9UHI7	OTTHUMG00000129228	ENST00000348729.3:c.1050C>A	5.37:g.138714919G>T			Somatic				SLC23A1_ENST00000348729.3_Silent_p.P350P	p.P354P	NM_152685.3	NP_689898	WXS	Illumina GAIIx	Phase_I	Q9UHI7	S23A1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		9	1100	-			350					O95191|Q8WWB6|Q9UGH4|Q9UI39	Silent	SNP	ENST00000348729.3	37	c.1062C>A	CCDS4212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.804|9.804	1.181368|1.181368	0.21787|0.21787	.|.	.|.	ENSG00000170482|ENSG00000170482	ENST00000453898|ENST00000504513	.|T	.|0.17370	.|2.28	5.26|5.26	3.35|3.35	0.38373|0.38373	.|.	0.054414|0.054414	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.22166|0.22166	0.0534|0.0534	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.03403|0.03403	-1.1040|-1.1040	6|7	0.66056|0.66056	D|D	0.02|0.02	-8.0643|-8.0643	3.2059|3.2059	0.06666|0.06666	0.0901:0.1363:0.5095:0.2641|0.0901:0.1363:0.5095:0.2641	.|.	.|.	.|.	.|.	H|T	305|97	.|ENSP00000422688:P97T	ENSP00000406720:P305H|ENSP00000422688:P97T	P|P	-|-	2|1	0|0	SLC23A1|SLC23A1	138742818|138742818	0.003000|0.003000	0.15002|0.15002	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	-1.277000|-1.277000	0.02812|0.02812	1.451000|1.451000	0.47736|0.47736	0.561000|0.561000	0.74099|0.74099	CCC|CCC		0.607	SLC23A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374185.1	NM_152685		33	60	33	60	---	---	---	---
ZBTB24	9841	broad.mit.edu	37	6	109802616	109802616	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr6:109802616C>T	ENST00000230122.3	-	2	781	c.614G>A	c.(613-615)gGt>gAt	p.G205D		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	205					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		ATTCAGTACACCACTGTCTCC	0.413																																						ENST00000230122.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22						c.(613-615)gGt>gAt		zinc finger and BTB domain containing 24							234.0	233.0	233.0					6																	109802616		2203	4300	6503	SO:0001583	missense	9841				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:109802616C>T	AB007901	CCDS34509.1	6q21	2014-09-17	2004-04-15	2004-04-16	ENSG00000112365	ENSG00000112365		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	21143	protein-coding gene	gene with protein product	"""POZ (BTB) and AT hook containing zinc finger 2"""	614064	"""zinc finger protein 450"""	ZNF450		9455477	Standard	NM_014797		Approved	KIAA0441, BIF1, PATZ2	uc003ptl.1	O43167	OTTHUMG00000015349	ENST00000230122.3:c.614G>A	6.37:g.109802616C>T	ENSP00000230122:p.Gly205Asp		Somatic					p.G205D	NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	WXS	Illumina GAIIx	Phase_I	O43167	ZBT24_HUMAN		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)	2	781	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	205					Q17RC6|Q5TED5|Q8N455	Missense_Mutation	SNP	ENST00000230122.3	37	c.614G>A	CCDS34509.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.646370	0.00792	.	.	ENSG00000112365	ENST00000230122	T	0.10477	2.87	5.06	2.09	0.27110	.	0.894418	0.09845	N	0.748372	T	0.01523	0.0049	N	0.24115	0.695	0.09310	N	1	B;B	0.25904	0.137;0.049	B;B	0.25140	0.058;0.026	T	0.49133	-0.8971	10	0.11794	T	0.64	-1.1658	2.6801	0.05091	0.2973:0.4455:0.1128:0.1443	.	205;205	O43167-2;O43167	.;ZBT24_HUMAN	D	205	ENSP00000230122:G205D	ENSP00000230122:G205D	G	-	2	0	ZBTB24	109909309	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.278000	0.18753	0.207000	0.20607	0.655000	0.94253	GGT		0.413	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041758.1	NM_014797		56	161	56	161	---	---	---	---
AEBP1	165	broad.mit.edu	37	7	44153447	44153447	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr7:44153447C>T	ENST00000223357.3	+	21	3369	c.3064C>T	c.(3064-3066)Cgc>Tgc	p.R1022C	AEBP1_ENST00000450684.2_Missense_Mutation_p.R597C|MIR4649_ENST00000582839.1_RNA	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1022	Interaction with MAPK1 and MAPK3. {ECO:0000250}.|Required for transcriptional repression. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GCAGCAGCGACGCCTACAACA	0.682																																						ENST00000223357.3																			0				NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						c.(3064-3066)Cgc>Tgc		AE binding protein 1							69.0	75.0	73.0					7																	44153447		2203	4300	6503	SO:0001583	missense	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44153447C>T	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.3064C>T	7.37:g.44153447C>T	ENSP00000223357:p.Arg1022Cys		Somatic				AEBP1_ENST00000450684.2_Missense_Mutation_p.R597C	p.R1022C	NM_001129.3	NP_001120.3	WXS	Illumina GAIIx	Phase_I	Q8IUX7	AEBP1_HUMAN			21	3369	+			1022			Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	ENST00000223357.3	37	c.3064C>T	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.217235	0.79352	.	.	ENSG00000106624	ENST00000223357;ENST00000450684	D;D	0.96104	-3.91;-3.22	5.33	5.33	0.75918	.	0.064498	0.64402	D	0.000008	D	0.95683	0.8596	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.981	D	0.96176	0.9127	10	0.87932	D	0	-31.4965	14.3975	0.67020	0.1484:0.8516:0.0:0.0	.	597;1022	Q8IUX7-2;Q8IUX7	.;AEBP1_HUMAN	C	1022;597	ENSP00000223357:R1022C;ENSP00000398878:R597C	ENSP00000223357:R1022C	R	+	1	0	AEBP1	44119972	0.999000	0.42202	0.918000	0.36340	0.821000	0.46438	2.402000	0.44521	2.499000	0.84300	0.557000	0.71058	CGC		0.682	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		19	62	19	62	---	---	---	---
ZNF462	58499	broad.mit.edu	37	9	109701288	109701288	+	Silent	SNP	C	C	G			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr9:109701288C>G	ENST00000277225.5	+	7	6616	c.6327C>G	c.(6325-6327)gcC>gcG	p.A2109A	ZNF462_ENST00000441147.2_Silent_p.A1015A|ZNF462_ENST00000542028.1_Silent_p.A66A|ZNF462_ENST00000457913.1_Silent_p.A2169A			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2109					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ACGGAAAAGCCCTGACCCTCC	0.557																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(6325-6327)gcC>gcG		zinc finger protein 462							254.0	243.0	247.0					9																	109701288		2203	4300	6503	SO:0001819	synonymous_variant	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109701288C>G	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.6327C>G	9.37:g.109701288C>G			Somatic				ZNF462_ENST00000542028.1_Silent_p.A66A|ZNF462_ENST00000441147.2_Silent_p.A1015A|ZNF462_ENST00000457913.1_Silent_p.A2169A	p.A2109A			WXS	Illumina GAIIx	Phase_I	Q96JM2	ZN462_HUMAN			7	6616	+			2109					Q5T0T4|Q8N408	Silent	SNP	ENST00000277225.5	37	c.6327C>G	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.391180	0.25118	.	.	ENSG00000148143	ENST00000427098	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	T	0.65026	0.2652	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62595	-0.6821	4	.	.	.	.	12.8738	0.57980	0.2706:0.7294:0.0:0.0	.	.	.	.	A	11	.	.	P	+	1	0	ZNF462	108741109	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.310000	0.43708	2.681000	0.91329	0.655000	0.94253	CCT		0.557	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		84	183	84	183	---	---	---	---
FGFR2	2263	broad.mit.edu	37	10	123325040	123325040	+	Silent	SNP	G	G	A	rs55806379		TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr10:123325040G>A	ENST00000358487.5	-	3	560	c.288C>T	c.(286-288)ggC>ggT	p.G96G	FGFR2_ENST00000369060.4_Silent_p.G96G|FGFR2_ENST00000457416.2_Silent_p.G96G|FGFR2_ENST00000346997.2_Silent_p.G96G|FGFR2_ENST00000351936.6_Silent_p.G96G|FGFR2_ENST00000360144.3_Intron|FGFR2_ENST00000357555.5_Intron|FGFR2_ENST00000369056.1_Silent_p.G96G|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000359354.2_Silent_p.G96G|FGFR2_ENST00000369061.4_Silent_p.G96G|FGFR2_ENST00000369059.1_Intron|FGFR2_ENST00000356226.4_Intron	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	96	Ig-like C2-type 1.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	TAGGCGTGGCGCCCTTTATCT	0.522		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				G|||	1	0.000199681	0.0008	0.0	5008	,	,		17730	0.0		0.0	False		,,,				2504	0.0					ENST00000358487.5		5		Dom	yes		10	10q26	2263	Mis	fibroblast growth factor receptor 2	yes	"""Crouzon, Pfeiffer, and Apert syndromes"""	E			"""gastric. NSCLC, endometrial"""		0				breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181						c.(286-288)ggC>ggT		fibroblast growth factor receptor 2	Palifermin(DB00039)						182.0	154.0	164.0					10																	123325040		2203	4300	6503	SO:0001819	synonymous_variant	2263	Saethre-Chotzen syndrome;Apert syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	g.chr10:123325040G>A	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.288C>T	10.37:g.123325040G>A			Somatic				FGFR2_ENST00000356226.4_Intron|FGFR2_ENST00000351936.6_Silent_p.G96G|FGFR2_ENST00000369061.4_Silent_p.G96G|FGFR2_ENST00000369059.1_Intron|FGFR2_ENST00000346997.2_Silent_p.G96G|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000359354.2_Silent_p.G96G|FGFR2_ENST00000360144.3_Intron|FGFR2_ENST00000357555.5_Intron|FGFR2_ENST00000369056.1_Silent_p.G96G|FGFR2_ENST00000369060.4_Silent_p.G96G|FGFR2_ENST00000457416.2_Silent_p.G96G	p.G96G	NM_000141.4	NP_000132.3	WXS	Illumina GAIIx	Phase_I	P21802	FGFR2_HUMAN	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	3	560	-		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	96			Ig-like C2-type 1.		B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Silent	SNP	ENST00000358487.5	37	c.288C>T	CCDS31298.1																																																																																				0.522	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141		5	91	5	91	---	---	---	---
ASB8	140461	broad.mit.edu	37	12	48543215	48543215	+	Silent	SNP	G	G	A			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr12:48543215G>A	ENST00000317697.3	-	4	970	c.801C>T	c.(799-801)ctC>ctT	p.L267L	ASB8_ENST00000536549.1_Silent_p.L267L|ASB8_ENST00000537754.1_5'UTR	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8	267	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						CTGCATCGGGGAGATACTGGA	0.522																																						ENST00000317697.3																			0				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						c.(799-801)ctC>ctT		ankyrin repeat and SOCS box containing 8							61.0	60.0	60.0					12																	48543215		2203	4300	6503	SO:0001819	synonymous_variant	140461				intracellular signal transduction	cytoplasm|nucleus		g.chr12:48543215G>A	AK024908	CCDS8761.1	12q13.12	2013-01-10	2011-01-25			ENSG00000177981		"""Ankyrin repeat domain containing"""	17183	protein-coding gene	gene with protein product		615053	"""ankyrin repeat and SOCS box-containing 8"""			12076535	Standard	NM_024095		Approved	MGC5540, FLJ21255	uc001rrh.3	Q9H765		ENST00000317697.3:c.801C>T	12.37:g.48543215G>A			Somatic				ASB8_ENST00000537754.1_5'UTR|ASB8_ENST00000536549.1_Silent_p.L267L	p.L267L	NM_024095.3	NP_077000.1	WXS	Illumina GAIIx	Phase_I	Q9H765	ASB8_HUMAN			4	970	-			267			SOCS box.		A8K1P2|Q547Q2	Silent	SNP	ENST00000317697.3	37	c.801C>T	CCDS8761.1																																																																																				0.522	ASB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396497.1			14	33	14	33	---	---	---	---
BCDIN3D	144233	broad.mit.edu	37	12	50236869	50236869	+	Start_Codon_SNP	SNP	A	A	C	rs192965804		TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr12:50236869A>C	ENST00000333924.4	-	1	43	c.2T>G	c.(1-3)aTg>aGg	p.M1R	BCDIN3D-AS1_ENST00000549124.1_RNA|BCDIN3D-AS1_ENST00000548872.1_RNA	NM_181708.2	NP_859059.1	Q7Z5W3	BN3D2_HUMAN	BCDIN3 domain containing	1					miRNA metabolic process (GO:0010586)|negative regulation of pre-miRNA processing (GO:2000632)|RNA methylation (GO:0001510)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	O-methyltransferase activity (GO:0008171)|RNA methyltransferase activity (GO:0008173)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)	9						GGGCACCGCCATTAGCCTCAA	0.662													a|||	1	0.000199681	0.0	0.0	5008	,	,		16145	0.0		0.001	False		,,,				2504	0.0					ENST00000333924.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)	9						c.(1-3)aTg>aGg		BCDIN3 domain containing							32.0	30.0	31.0					12																	50236869		2174	4250	6424	SO:0001582	initiator_codon_variant	144233						methyltransferase activity	g.chr12:50236869A>C		CCDS8790.1	12q13.13	2008-03-12				ENSG00000186666			27050	protein-coding gene	gene with protein product							Standard	NM_181708		Approved		uc001rvh.3	Q7Z5W3	OTTHUMG00000169807	ENST00000333924.4:c.2T>G	12.37:g.50236869A>C	ENSP00000335201:p.Met1Arg		Somatic					p.M1R	NM_181708.2	NP_859059.1	WXS	Illumina GAIIx	Phase_I	Q7Z5W3	BN3D2_HUMAN			1	43	-			1					A8K829	Translation_Start_Site	SNP	ENST00000333924.4	37	c.2T>G	CCDS8790.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	17.31	3.357904	0.61403	.	.	ENSG00000186666	ENST00000333924	T	0.48201	0.82	6.08	6.08	0.98989	.	0.325555	0.35040	N	0.003488	T	0.48786	0.1519	.	.	.	0.80722	D	1	P	0.46395	0.877	B	0.44315	0.446	T	0.53837	-0.8382	9	0.87932	D	0	.	13.043	0.58910	1.0:0.0:0.0:0.0	.	1	Q7Z5W3	BN3D2_HUMAN	R	1	ENSP00000335201:M1R	ENSP00000335201:M1R	M	-	2	0	BCDIN3D	48523136	1.000000	0.71417	0.990000	0.47175	0.040000	0.13550	6.205000	0.72148	2.333000	0.79357	0.482000	0.46254	ATG		0.662	BCDIN3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405982.1	NM_181708	Missense_Mutation	11	25	11	25	---	---	---	---
HOXC11	3227	broad.mit.edu	37	12	54369166	54369166	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr12:54369166T>C	ENST00000546378.1	+	2	1000	c.884T>C	c.(883-885)cTg>cCg	p.L295P	HOTAIR_ENST00000455246.1_RNA|HOTAIR_ENST00000424518.1_RNA|HOXC11_ENST00000243082.4_Silent_p.A296A			O43248	HXC11_HUMAN	homeobox C11	295					anterior/posterior pattern specification (GO:0009952)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal joint morphogenesis (GO:0060272)|endoderm development (GO:0007492)|metanephros development (GO:0001656)|organ induction (GO:0001759)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			large_intestine(1)|ovary(1)	2						AGAGACCGGCTGCAGTATTTC	0.468			T	NUP98	AML																																	ENST00000546378.1				Dom	yes		12	12q13.3	3227	T	homeo box C11			L	NUP98		AML		0				large_intestine(1)|ovary(1)	2						c.(883-885)cTg>cCg		homeobox C11							32.0	38.0	36.0					12																	54369166		2200	4300	6500	SO:0001583	missense	3227				endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54369166T>C		CCDS8867.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123388	ENSG00000123388		"""Homeoboxes / ANTP class : HOXL subclass"""	5123	protein-coding gene	gene with protein product		605559	"""homeo box C11"""	HOX3H		1973146, 1358459	Standard	NM_014212		Approved		uc001sem.3	O43248	OTTHUMG00000160011	ENST00000546378.1:c.884T>C	12.37:g.54369166T>C	ENSP00000446680:p.Leu295Pro		Somatic				HOXC11_ENST00000243082.4_Silent_p.A296A	p.L295P			WXS	Illumina GAIIx	Phase_I	O43248	HXC11_HUMAN			2	1000	+			295					A8K7D1|Q96DH2	Missense_Mutation	SNP	ENST00000546378.1	37	c.884T>C	CCDS8867.1	.	.	.	.	.	.	.	.	.	.	T	19.04	3.750392	0.69533	.	.	ENSG00000123388	ENST00000546378	D	0.92752	-3.1	4.68	4.68	0.58851	.	0.185627	0.36444	N	0.002584	D	0.93367	0.7885	L	0.37850	1.14	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.93947	0.7228	10	0.66056	D	0.02	.	13.4315	0.61057	0.0:0.0:0.0:1.0	.	295	O43248	HXC11_HUMAN	P	295	ENSP00000446680:L295P	ENSP00000446680:L295P	L	+	2	0	HOXC11	52655433	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.925000	0.87563	1.883000	0.54544	0.454000	0.30748	CTG		0.468	HOXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358869.2			12	38	12	38	---	---	---	---
IFT88	8100	broad.mit.edu	37	13	21219039	21219039	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr13:21219039A>G	ENST00000319980.6	+	22	2245	c.1918A>G	c.(1918-1920)Att>Gtt	p.I640V	IFT88_ENST00000537103.1_Missense_Mutation_p.I612V|IFT88_ENST00000382778.4_Missense_Mutation_p.I640V|IFT88_ENST00000351808.5_Missense_Mutation_p.I631V	NM_175605.3	NP_783195.2	Q13099	IFT88_HUMAN	intraflagellar transport 88	640					anterior/posterior pattern specification (GO:0009952)|cardiac muscle cell differentiation (GO:0055007)|cardiac septum morphogenesis (GO:0060411)|cilium morphogenesis (GO:0060271)|cochlea development (GO:0090102)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|embryonic digit morphogenesis (GO:0042733)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|epithelial cell morphogenesis (GO:0003382)|eye development (GO:0001654)|forebrain morphogenesis (GO:0048853)|heart formation (GO:0060914)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|liver development (GO:0001889)|lung vasculature development (GO:0060426)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|protein localization (GO:0008104)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of cilium assembly (GO:1902017)|regulation of fat cell differentiation (GO:0045598)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of protein processing (GO:0070613)|regulation of smoothened signaling pathway (GO:0008589)|response to fluid shear stress (GO:0034405)|smoothened signaling pathway (GO:0007224)|sperm axoneme assembly (GO:0007288)|spermatid nucleus elongation (GO:0007290)|spinal cord dorsal/ventral patterning (GO:0021513)|telencephalon development (GO:0021537)	acrosomal membrane (GO:0002080)|apical part of cell (GO:0045177)|axonemal basal plate (GO:0097541)|centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|kinocilium (GO:0060091)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		AGCCTATTACATTGACACCCA	0.318																																						ENST00000382778.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27						c.(1918-1920)Att>Gtt		intraflagellar transport 88 homolog (Chlamydomonas)							121.0	122.0	122.0					13																	21219039		2203	4296	6499	SO:0001583	missense	8100				cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding	g.chr13:21219039A>G	AK058172	CCDS31944.1, CCDS31945.1	13q12.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000032742	ENSG00000032742		"""Intraflagellar transport homologs"", ""Tetratricopeptide (TTC) repeat domain containing"""	20606	protein-coding gene	gene with protein product	"""polaris homolog"""	600595	"""tetratricopeptide repeat domain 10"", ""intraflagellar transport 88 homolog (Chlamydomonas)"""	TTC10		7633404	Standard	XM_005266546		Approved	hTg737, Tg737, D13S1056E, MGC26259	uc001uni.3	Q13099	OTTHUMG00000016517	ENST00000319980.6:c.1918A>G	13.37:g.21219039A>G	ENSP00000323580:p.Ile640Val		Somatic				IFT88_ENST00000351808.5_Missense_Mutation_p.I631V|IFT88_ENST00000537103.1_Missense_Mutation_p.I612V|IFT88_ENST00000319980.6_Missense_Mutation_p.I640V	p.I640V			WXS	Illumina GAIIx	Phase_I	Q13099	IFT88_HUMAN		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)	21	3036	+		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)	640					A2A491|B4DUS2|Q5SZJ6|Q8N719	Missense_Mutation	SNP	ENST00000319980.6	37	c.1918A>G	CCDS31944.1	.	.	.	.	.	.	.	.	.	.	A	13.31	2.198598	0.38806	.	.	ENSG00000032742	ENST00000382778;ENST00000351808;ENST00000319980;ENST00000537103	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.48	5.48	0.80851	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.151249	0.56097	D	0.000034	T	0.70281	0.3206	L	0.27053	0.805	0.54753	D	0.999987	B;P	0.39535	0.137;0.677	B;B	0.43445	0.058;0.42	T	0.67047	-0.5769	10	0.17369	T	0.5	-24.6286	15.8579	0.78994	1.0:0.0:0.0:0.0	.	612;640	F5H6C2;Q13099	.;IFT88_HUMAN	V	640;631;640;612	ENSP00000372228:I640V;ENSP00000261632:I631V;ENSP00000323580:I640V;ENSP00000437719:I612V	ENSP00000323580:I640V	I	+	1	0	IFT88	20117039	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.099000	0.64554	2.191000	0.70037	0.528000	0.53228	ATT		0.318	IFT88-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044075.3	NM_006531		31	84	31	84	---	---	---	---
XPO4	64328	broad.mit.edu	37	13	21401283	21401283	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr13:21401283G>A	ENST00000255305.6	-	7	834	c.763C>T	c.(763-765)Caa>Taa	p.Q255*	XPO4_ENST00000400602.2_Nonsense_Mutation_p.Q255*			Q9C0E2	XPO4_HUMAN	exportin 4	255					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		AGCACATTTTGCGAGGATTCA	0.393																																						ENST00000400602.2																			0				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41						c.(763-765)Caa>Taa		exportin 4							95.0	91.0	92.0					13																	21401283		1843	4093	5936	SO:0001587	stop_gained	64328				protein transport	cytoplasm|nucleus	protein binding	g.chr13:21401283G>A	AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"""Exportins"""	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.763C>T	13.37:g.21401283G>A	ENSP00000255305:p.Gln255*		Somatic				XPO4_ENST00000255305.6_Nonsense_Mutation_p.Q255*	p.Q255*	NM_022459.4	NP_071904.4	WXS	Illumina GAIIx	Phase_I	Q9C0E2	XPO4_HUMAN		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)	7	798	-		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	255					Q5VUZ5|Q8N3V6|Q9H934	Nonsense_Mutation	SNP	ENST00000255305.6	37	c.763C>T	CCDS41872.1	.	.	.	.	.	.	.	.	.	.	G	37	6.588527	0.97688	.	.	ENSG00000132953	ENST00000400602;ENST00000456108;ENST00000255305	.	.	.	6.03	6.03	0.97812	.	0.049136	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-13.9464	20.5596	0.99324	0.0:0.0:1.0:0.0	.	.	.	.	X	255;125;255	.	ENSP00000255305:Q255X	Q	-	1	0	XPO4	20299283	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.975000	0.93437	2.868000	0.98415	0.555000	0.69702	CAA		0.393	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	NM_022459		19	44	19	44	---	---	---	---
METTL21C	196541	broad.mit.edu	37	13	103338687	103338687	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr13:103338687A>T	ENST00000267273.6	-	4	494	c.489T>A	c.(487-489)caT>caA	p.H163Q		NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN	methyltransferase like 21C	163					peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479)	nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)			breast(1)|large_intestine(3)|lung(2)|skin(1)	7						CTTCAGGCAGATGTGCTGTAC	0.418																																						ENST00000267273.6																			0				breast(1)|large_intestine(3)|lung(2)|skin(1)	7						c.(487-489)caT>caA		methyltransferase like 21C							87.0	88.0	88.0					13																	103338687		2203	4300	6503	SO:0001583	missense	196541						methyltransferase activity	g.chr13:103338687A>T		CCDS32003.1	13q33.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000139780	ENSG00000139780			33717	protein-coding gene	gene with protein product		615259	"""chromosome 13 open reading frame 39"""	C13orf39			Standard	NM_001010977		Approved	LOC196541	uc001vpj.4	Q5VZV1	OTTHUMG00000017304	ENST00000267273.6:c.489T>A	13.37:g.103338687A>T	ENSP00000267273:p.His163Gln		Somatic					p.H163Q	NM_001010977.1	NP_001010977.1	WXS	Illumina GAIIx	Phase_I	Q5VZV1	MT21C_HUMAN			4	494	-			163						Missense_Mutation	SNP	ENST00000267273.6	37	c.489T>A	CCDS32003.1	.	.	.	.	.	.	.	.	.	.	A	17.71	3.455898	0.63401	.	.	ENSG00000139780	ENST00000267273	T	0.42131	0.98	5.68	-2.06	0.07298	.	0.171432	0.53938	D	0.000060	T	0.41003	0.1140	L	0.46947	1.48	0.35581	D	0.806284	D	0.55172	0.97	P	0.54815	0.761	T	0.51694	-0.8673	10	0.14252	T	0.57	-6.152	11.5652	0.50800	0.4692:0.0:0.5308:0.0	.	163	Q5VZV1	MT21C_HUMAN	Q	163	ENSP00000267273:H163Q	ENSP00000267273:H163Q	H	-	3	2	METTL21C	102136688	0.547000	0.26465	0.732000	0.30844	0.721000	0.41392	0.541000	0.23207	-0.095000	0.12351	0.528000	0.53228	CAT		0.418	METTL21C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045682.2	NM_001010977		19	42	19	42	---	---	---	---
ZFYVE1	53349	broad.mit.edu	37	14	73464594	73464594	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr14:73464594C>G	ENST00000556143.1	-	3	1633	c.913G>C	c.(913-915)Gat>Cat	p.D305H	ZFYVE1_ENST00000318876.5_Missense_Mutation_p.D305H|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.D305H	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	305					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		AAAGGGACATCCAGGCCACAG	0.542																																						ENST00000556143.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35						c.(913-915)Gat>Cat		zinc finger, FYVE domain containing 1							73.0	62.0	66.0					14																	73464594		2203	4300	6503	SO:0001583	missense	53349					endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding	g.chr14:73464594C>G	AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"""Zinc fingers, FYVE domain containing"""	13180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 172"""	605471	"""zinc finger protein, subfamily 2A (FYVE domain containing), 1"""	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.913G>C	14.37:g.73464594C>G	ENSP00000450742:p.Asp305His		Somatic				ZFYVE1_ENST00000553891.1_Missense_Mutation_p.D305H|ZFYVE1_ENST00000318876.5_Missense_Mutation_p.D305H	p.D305H	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	WXS	Illumina GAIIx	Phase_I	Q9HBF4	ZFYV1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)	3	1633	-		all_lung(585;1.33e-09)	305					J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Missense_Mutation	SNP	ENST00000556143.1	37	c.913G>C	CCDS9811.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.811025	0.90707	.	.	ENSG00000165861	ENST00000553891;ENST00000318876;ENST00000556143	T;T;T	0.65732	-0.17;-0.16;-0.17	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.78824	0.4344	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70227	0.965;0.968	T	0.79555	-0.1755	10	0.72032	D	0.01	-21.8098	19.869	0.96843	0.0:1.0:0.0:0.0	.	305;305	G3V5N8;Q9HBF4	.;ZFYV1_HUMAN	H	305	ENSP00000452442:D305H;ENSP00000326921:D305H;ENSP00000450742:D305H	ENSP00000326921:D305H	D	-	1	0	ZFYVE1	72534347	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.747000	0.85070	2.709000	0.92574	0.591000	0.81541	GAT		0.542	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413172.1	NM_021260		17	24	17	24	---	---	---	---
LOC81691	81691	broad.mit.edu	37	16	20855295	20855295	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr16:20855295C>T	ENST00000261377.6	+	16	1875	c.1666C>T	c.(1666-1668)Cag>Tag	p.Q556*	ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000564274.1_Nonsense_Mutation_p.Q556*|AC004381.6_ENST00000348433.6_Intron	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					AGAAGCTGCCCAGCTGGCCAT	0.483																																						ENST00000261377.6																			0											c.(1666-1668)Cag>Tag									115.0	110.0	112.0					16																	20855295		2201	4300	6501	SO:0001587	stop_gained	81691							g.chr16:20855295C>T																												ENST00000261377.6:c.1666C>T	16.37:g.20855295C>T	ENSP00000261377:p.Gln556*		Somatic				AC004381.6_ENST00000564274.1_Nonsense_Mutation_p.Q556*|AC004381.6_ENST00000348433.6_Intron|ERI2_ENST00000564349.1_Intron	p.Q556*	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2	WXS	Illumina GAIIx	Phase_I					16	1875	+									Nonsense_Mutation	SNP	ENST00000261377.6	37	c.1666C>T	CCDS10591.1	.	.	.	.	.	.	.	.	.	.	C	37	6.361128	0.97507	.	.	ENSG00000005189	ENST00000261377	.	.	.	5.39	4.42	0.53409	.	0.181902	0.39146	N	0.001452	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-14.9165	14.2069	0.65739	0.1509:0.8491:0.0:0.0	.	.	.	.	X	556	.	ENSP00000261377:Q556X	Q	+	1	0	AC004381.6	20762796	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.498000	0.60373	1.222000	0.43521	0.561000	0.74099	CAG		0.483	AC004381.6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254418.2			22	70	22	70	---	---	---	---
KDM4B	23030	broad.mit.edu	37	19	5077467	5077467	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr19:5077467A>G	ENST00000159111.4	+	8	984	c.766A>G	c.(766-768)Atc>Gtc	p.I256V	KDM4B_ENST00000536461.1_Missense_Mutation_p.I256V|KDM4B_ENST00000592175.1_3'UTR|KDM4B_ENST00000381759.4_Missense_Mutation_p.I256V	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	256	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GAAGTACGGGATCCCCTTCAG	0.642																																						ENST00000159111.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(766-768)Atc>Gtc		lysine (K)-specific demethylase 4B							98.0	98.0	98.0					19																	5077467		2203	4300	6503	SO:0001583	missense	23030				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr19:5077467A>G	AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	29136	protein-coding gene	gene with protein product	"""tudor domain containing 14B"""	609765	"""jumonji domain containing 2B"""	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.766A>G	19.37:g.5077467A>G	ENSP00000159111:p.Ile256Val		Somatic				KDM4B_ENST00000592175.1_3'UTR|KDM4B_ENST00000381759.4_Missense_Mutation_p.I256V|KDM4B_ENST00000536461.1_Missense_Mutation_p.I256V	p.I256V	NM_015015.2	NP_055830	WXS	Illumina GAIIx	Phase_I	O94953	KDM4B_HUMAN			8	984	+			256			JmjC.		B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Missense_Mutation	SNP	ENST00000159111.4	37	c.766A>G	CCDS12138.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.304270	0.81136	.	.	ENSG00000127663	ENST00000159111;ENST00000381759;ENST00000536461	T;T;T	0.72835	-0.69;-0.69;-0.69	4.52	4.52	0.55395	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.85682	D	0.000000	T	0.63988	0.2558	N	0.25332	0.735	0.80722	D	1	B;P;B	0.42827	0.05;0.791;0.166	B;P;P	0.45971	0.188;0.499;0.474	T	0.65170	-0.6233	10	0.40728	T	0.16	-32.4144	13.8579	0.63540	1.0:0.0:0.0:0.0	.	256;256;256	F5GX28;O94953-2;O94953	.;.;KDM4B_HUMAN	V	256	ENSP00000159111:I256V;ENSP00000371178:I256V;ENSP00000440495:I256V	ENSP00000159111:I256V	I	+	1	0	KDM4B	5028467	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	9.110000	0.94302	1.679000	0.50963	0.379000	0.24179	ATC		0.642	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015		4	150	4	150	---	---	---	---
ABHD8	79575	broad.mit.edu	37	19	17412032	17412032	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr19:17412032C>T	ENST00000247706.3	-	2	633	c.394G>A	c.(394-396)Gcc>Acc	p.A132T	MRPL34_ENST00000594999.1_5'Flank|MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	132							hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						ctgccgGGGGCCAAGCGGCCA	0.726																																					Ovarian(156;1368 2543 15275 41187)	ENST00000247706.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						c.(394-396)Gcc>Acc		abhydrolase domain containing 8							9.0	11.0	10.0					19																	17412032		1889	3736	5625	SO:0001583	missense	79575						hydrolase activity	g.chr19:17412032C>T	AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"""Abhydrolase domain containing"""	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.394G>A	19.37:g.17412032C>T	ENSP00000247706:p.Ala132Thr		Somatic				MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	p.A132T	NM_024527.4	NP_078803.4	WXS	Illumina GAIIx	Phase_I	Q96I13	ABHD8_HUMAN			2	633	-			132					Q9HAE9	Missense_Mutation	SNP	ENST00000247706.3	37	c.394G>A	CCDS12355.1	.	.	.	.	.	.	.	.	.	.	C	1.807	-0.475713	0.04414	.	.	ENSG00000127220	ENST00000247706;ENST00000544788	T	0.30448	1.53	5.33	3.02	0.34903	.	0.950455	0.08804	N	0.891310	T	0.13628	0.0330	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36866	-0.9730	10	0.13470	T	0.59	-0.1383	4.0542	0.09810	0.0:0.5617:0.1926:0.2457	.	132	Q96I13	ABHD8_HUMAN	T	132;78	ENSP00000247706:A132T	ENSP00000247706:A132T	A	-	1	0	ABHD8	17273032	0.013000	0.17824	0.000000	0.03702	0.022000	0.10575	2.586000	0.46119	0.439000	0.26476	0.561000	0.74099	GCC		0.726	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462937.1	NM_024527		13	19	13	19	---	---	---	---
PSG7	5676	broad.mit.edu	37	19	43433714	43433714	+	RNA	SNP	C	C	G			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr19:43433714C>G	ENST00000406070.2	-	0	685				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				CTGTTGGTTTCAGACAGCTGC	0.507																																						ENST00000406070.2																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)							297.0	299.0	298.0					19																	43433714		2201	4300	6501			5676				female pregnancy	extracellular region		g.chr19:43433714C>G			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43433714C>G			Somatic				PSG7_ENST00000446844.3_RNA		NM_002783.2	NP_002774.2	WXS	Illumina GAIIx	Phase_I	Q13046	PSG7_HUMAN			0	685	-		Prostate(69;0.00682)						Q15232	RNA	SNP	ENST00000406070.2	37																																																																																						0.507	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		104	253	104	253	---	---	---	---
CCDC114	93233	broad.mit.edu	37	19	48801473	48801473	+	Silent	SNP	C	C	T			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr19:48801473C>T	ENST00000315396.7	-	11	1936	c.1254G>A	c.(1252-1254)ctG>ctA	p.L418L		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	418					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		GGAGCTCCACCAGCCGCTTCT	0.647																																						ENST00000315396.7																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24						c.(1252-1254)ctG>ctA		coiled-coil domain containing 114							58.0	58.0	58.0					19																	48801473		2203	4300	6503	SO:0001819	synonymous_variant	93233							g.chr19:48801473C>T	BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.1254G>A	19.37:g.48801473C>T			Somatic					p.L418L	NM_144577.3	NP_653178.3	WXS	Illumina GAIIx	Phase_I	Q96M63	CC114_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)	11	1936	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)	418					Q6ZRL4|Q96M06|Q9UFG8	Silent	SNP	ENST00000315396.7	37	c.1254G>A	CCDS12714.2																																																																																				0.647	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1	NM_144577		9	29	9	29	---	---	---	---
LRRN4	164312	broad.mit.edu	37	20	6031443	6031443	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr20:6031443T>C	ENST00000378858.4	-	3	1066	c.842A>G	c.(841-843)cAg>cGg	p.Q281R		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	281					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CAGAAGGACCTGTAGATGTGG	0.453																																						ENST00000378858.4																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						c.(841-843)cAg>cGg		leucine rich repeat neuronal 4							167.0	162.0	164.0					20																	6031443		2203	4300	6503	SO:0001583	missense	164312					integral to membrane		g.chr20:6031443T>C	AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"""Fibronectin type III domain containing"""	16208	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 75"""	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.842A>G	20.37:g.6031443T>C	ENSP00000368135:p.Gln281Arg		Somatic					p.Q281R	NM_152611.4	NP_689824.2	WXS	Illumina GAIIx	Phase_I	Q8WUT4	LRRN4_HUMAN			3	1066	-			281					A8K258|Q5JWV6|Q9H419	Missense_Mutation	SNP	ENST00000378858.4	37	c.842A>G	CCDS13097.1	.	.	.	.	.	.	.	.	.	.	T	5.525	0.281824	0.10458	.	.	ENSG00000125872	ENST00000378858	T	0.54479	0.57	5.68	4.58	0.56647	.	0.436138	0.20495	N	0.091212	T	0.35098	0.0920	N	0.25890	0.77	0.09310	N	1	B;B	0.18461	0.028;0.001	B;B	0.17433	0.018;0.006	T	0.18272	-1.0342	10	0.28530	T	0.3	-15.2896	5.7112	0.17935	0.0:0.1576:0.1448:0.6976	.	281;281	Q6ZMD1;Q8WUT4	.;LRRN4_HUMAN	R	281	ENSP00000368135:Q281R	ENSP00000368135:Q281R	Q	-	2	0	LRRN4	5979443	0.032000	0.19561	0.028000	0.17463	0.387000	0.30353	0.596000	0.24044	0.993000	0.38866	0.402000	0.26972	CAG		0.453	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2	NM_152611		34	55	34	55	---	---	---	---
TRMT2A	27037	broad.mit.edu	37	22	20104421	20104421	+	Silent	SNP	C	C	T			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr22:20104421C>T	ENST00000252136.7	-	1	397	c.9G>A	c.(7-9)gaG>gaA	p.E3E	RANBP1_ENST00000430524.1_Intron|RANBP1_ENST00000331821.3_5'Flank|TRMT2A_ENST00000403707.3_Silent_p.E3E|TRMT2A_ENST00000439169.2_Silent_p.E3E|RANBP1_ENST00000402752.1_5'Flank|TRMT2A_ENST00000492988.1_5'Flank|TRMT2A_ENST00000404751.3_Silent_p.E3E	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	3					RNA processing (GO:0006396)		nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)			breast(2)|endometrium(2)|lung(5)	9						TGTCGAGGTTCTCACTCATCG	0.657																																						ENST00000252136.7																			0				breast(2)|endometrium(2)|lung(5)	9						c.(7-9)gaG>gaA		tRNA methyltransferase 2 homolog A (S. cerevisiae)							51.0	32.0	38.0					22																	20104421		2192	4294	6486	SO:0001819	synonymous_variant	27037				RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity	g.chr22:20104421C>T	BC017184	CCDS13774.1, CCDS58793.1	22q11.21	2014-02-12	2012-06-12		ENSG00000099899	ENSG00000099899			24974	protein-coding gene	gene with protein product	"""HpaII tiny fragments locus 9C"""	611151				9417108, 18075473	Standard	NM_022727		Approved	HTF9C	uc002zrl.2	Q8IZ69	OTTHUMG00000150454	ENST00000252136.7:c.9G>A	22.37:g.20104421C>T			Somatic				TRMT2A_ENST00000439169.2_Silent_p.E3E|RANBP1_ENST00000430524.1_Intron|TRMT2A_ENST00000404751.3_Silent_p.E3E|TRMT2A_ENST00000403707.3_Silent_p.E3E	p.E3E	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	WXS	Illumina GAIIx	Phase_I	Q8IZ69	TRM2A_HUMAN			1	397	-			3					D3DX25|Q32P57|Q96ME6|Q9H732	Silent	SNP	ENST00000252136.7	37	c.9G>A	CCDS13774.1																																																																																				0.657	TRMT2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318168.3	NM_022727		3	3	3	3	---	---	---	---
MMP11	4320	broad.mit.edu	37	22	24124530	24124530	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr22:24124530A>G	ENST00000215743.3	+	7	1245	c.1193A>G	c.(1192-1194)aAc>aGc	p.N398S	AP000349.1_ENST00000598975.1_Silent_p.C228C	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	398					basement membrane organization (GO:0071711)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|negative regulation of fat cell differentiation (GO:0045599)|proteolysis (GO:0006508)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)			Marimastat(DB00786)	CCCGAGAAGAACAAGATCTAC	0.647																																						ENST00000215743.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27						c.(1192-1194)aAc>aGc		matrix metallopeptidase 11 (stromelysin 3)							74.0	67.0	69.0					22																	24124530		2203	4300	6503	SO:0001583	missense	4320				collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr22:24124530A>G		CCDS13816.1	22q11.23	2008-06-11	2005-08-08		ENSG00000099953	ENSG00000099953			7157	protein-coding gene	gene with protein product		185261	"""matrix metalloproteinase 11 (stromelysin 3)"""	STMY3		1639418, 7657606, 12006591	Standard	NM_005940		Approved		uc002zxx.3	P24347	OTTHUMG00000150742	ENST00000215743.3:c.1193A>G	22.37:g.24124530A>G	ENSP00000215743:p.Asn398Ser		Somatic				AP000349.1_ENST00000598975.1_Silent_p.C228C	p.N398S	NM_005940.3	NP_005931.2	WXS	Illumina GAIIx	Phase_I	P24347	MMP11_HUMAN			7	1245	+		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)	398			Hemopexin-like 3.		Q5FX24|Q6PEZ6|Q9UC26	Missense_Mutation	SNP	ENST00000215743.3	37	c.1193A>G	CCDS13816.1	.	.	.	.	.	.	.	.	.	.	A	16.54	3.152217	0.57259	.	.	ENSG00000099953	ENST00000215743	T	0.02916	4.11	4.93	4.93	0.64822	Hemopexin/matrixin (2);	0.366639	0.33938	N	0.004410	T	0.05410	0.0143	M	0.62088	1.915	0.42653	D	0.993458	B	0.22746	0.074	B	0.21917	0.037	T	0.18335	-1.0340	10	0.52906	T	0.07	.	14.2638	0.66102	1.0:0.0:0.0:0.0	.	398	P24347	MMP11_HUMAN	S	398	ENSP00000215743:N398S	ENSP00000215743:N398S	N	+	2	0	MMP11	22454530	1.000000	0.71417	1.000000	0.80357	0.670000	0.39368	3.711000	0.54868	2.228000	0.72767	0.477000	0.44152	AAC		0.647	MMP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319891.2	NM_005940		10	42	10	42	---	---	---	---
EQTN	54586	broad.mit.edu	37	9	27291028	27291030	+	In_Frame_Del	DEL	ATT	ATT	-			TCGA-EJ-A7NM-01A-21D-A33T-08	TCGA-EJ-A7NM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da5750e6-fb1c-4bd9-9fc7-fa93504b0690	0892efc4-b6f5-47e3-befe-b685ebb7d359	g.chr9:27291028_27291030delATT	ENST00000380032.3	-	5	491_493	c.408_410delAAT	c.(406-411)acaatg>acg	p.M137del	EQTN_ENST00000537675.1_In_Frame_Del_p.M108del|EQTN_ENST00000484994.1_5'Flank	NM_020641.2	NP_065692.2	Q9NQ60	EQTN_HUMAN	equatorin, sperm acrosome associated	137					acrosomal vesicle exocytosis (GO:0060478)|endocytosis (GO:0006897)|fusion of sperm to egg plasma membrane (GO:0007342)	early endosome (GO:0005769)|inner acrosomal membrane (GO:0002079)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|outer acrosomal membrane (GO:0002081)|plasma membrane (GO:0005886)											TTTAGCTAACATTGTCCAAAATG	0.335																																						ENST00000380032.3																			0											c.(406-411)acaatg>acg		equatorin, sperm acrosome associated																																				SO:0001651	inframe_deletion	54586							g.chr9:27291028_27291030delATT	AJ278482	CCDS35001.1, CCDS55300.1	9p21	2012-09-20	2012-09-20	2012-09-20	ENSG00000120160	ENSG00000120160			1359	protein-coding gene	gene with protein product	"""Acr formation associated factor"", ""Acrosome formation associated factor"", ""sperm acrosome associated 8"""		"""chromosome 9 open reading frame 11"", ""equatorin"""	C9orf11			Standard	NM_020641		Approved	AFAF, SPACA8, equatorin	uc003zql.3	Q9NQ60	OTTHUMG00000021033	ENST00000380032.3:c.408_410delAAT	9.37:g.27291028_27291030delATT	ENSP00000369371:p.Met137del		Somatic				EQTN_ENST00000537675.1_In_Frame_Del_p.M108del	p.M137del	NM_020641.2	NP_065692.2	WXS	Illumina GAIIx	Phase_I					5	491_493	-								B2RPB3|B7ZMK1|Q5TCU1|Q96L22	In_Frame_Del	DEL	ENST00000380032.3	37	c.408_410delAAT	CCDS35001.1																																																																																				0.335	EQTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055499.1	NM_020641		13	22	13	22	---	---	---	---
