#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
TNFRSF4	7293	broad.mit.edu	37	1	1148405	1148405	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr1:1148405T>G	ENST00000379236.3	-	3	341	c.337A>C	c.(337-339)Acc>Ccc	p.T113P	TNFRSF4_ENST00000453580.1_5'UTR	NM_003327.3	NP_003318.1	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily, member 4	113					cellular defense response (GO:0006968)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of immunoglobulin secretion (GO:0051024)|regulation of apoptotic process (GO:0042981)|regulation of protein kinase activity (GO:0045859)|T cell proliferation (GO:0042098)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	tumor necrosis factor-activated receptor activity (GO:0005031)			large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AGGGGCTGGGTGCCCGCCCGG	0.692																																						ENST00000379236.3																			0				large_intestine(1)|lung(2)|urinary_tract(1)	4						c.(337-339)Acc>Ccc		tumor necrosis factor receptor superfamily, member 4							19.0	21.0	20.0					1																	1148405		2191	4288	6479	SO:0001583	missense	7293				immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity	g.chr1:1148405T>G	X75962	CCDS11.1	1p36	2008-02-05			ENSG00000186827	ENSG00000186827		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11918	protein-coding gene	gene with protein product		600315		TXGP1L		7510240, 2828930	Standard	NM_003327		Approved	ACT35, OX40, CD134	uc001ade.3	P43489	OTTHUMG00000001415	ENST00000379236.3:c.337A>C	1.37:g.1148405T>G	ENSP00000368538:p.Thr113Pro		Somatic				TNFRSF4_ENST00000453580.1_5'UTR	p.T113P	NM_003327.3	NP_003318.1	WXS	Illumina GAIIx	Phase_I	P43489	TNR4_HUMAN		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	3	341	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	113					Q13663|Q2M312|Q5T7M0	Missense_Mutation	SNP	ENST00000379236.3	37	c.337A>C	CCDS11.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	12.07|12.07	1.827052|1.827052	0.32329|0.32329	.|.	.|.	ENSG00000186827|ENSG00000186827	ENST00000453580|ENST00000379236	.|T	.|0.44881	.|0.91	3.69|3.69	3.69|3.69	0.42338|0.42338	.|.	.|7.169050	.|0.02129	.|U	.|0.056256	T|T	0.59905|0.59905	0.2228|0.2228	L|L	0.58810|0.58810	1.83|1.83	0.31723|0.31723	N|N	0.638074|0.638074	.|D;P	.|0.76494	.|0.999;0.931	.|D;P	.|0.69479	.|0.964;0.724	T|T	0.41016|0.41016	-0.9532|-0.9532	5|10	.|0.36615	.|T	.|0.2	-25.463|-25.463	6.4747|6.4747	0.22028|0.22028	0.2165:0.0:0.0:0.7835|0.2165:0.0:0.0:0.7835	.|.	.|58;113	.|B1AME4;P43489	.|.;TNR4_HUMAN	P|P	58|113	.|ENSP00000368538:T113P	.|ENSP00000368538:T113P	H|T	-|-	2|1	0|0	TNFRSF4|TNFRSF4	1138268|1138268	0.669000|0.669000	0.27502|0.27502	0.966000|0.966000	0.40874|0.40874	0.362000|0.362000	0.29581|0.29581	1.580000|1.580000	0.36547|0.36547	1.693000|1.693000	0.51124|0.51124	0.387000|0.387000	0.25754|0.25754	CAC|ACC		0.692	TNFRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004086.1			6	29	6	29	---	---	---	---
KIF1B	23095	broad.mit.edu	37	1	10292482	10292482	+	Silent	SNP	C	C	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr1:10292482C>T	ENST00000377086.1	+	2	298	c.96C>T	c.(94-96)ggC>ggT	p.G32G	KIF1B_ENST00000263934.6_Silent_p.G32G|KIF1B_ENST00000377083.1_Silent_p.G32G|KIF1B_ENST00000377093.4_Silent_p.G32G|KIF1B_ENST00000377081.1_Silent_p.G32G			O60333	KIF1B_HUMAN	kinesin family member 1B	32	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.G32G(2)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AGATGCAAGGCAACTCGACCA	0.458																																						ENST00000377086.1																			2	Substitution - coding silent(2)	p.G32G(2)	prostate(2)	breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71						c.(94-96)ggC>ggT		kinesin family member 1B							118.0	101.0	107.0					1																	10292482		2203	4300	6503	SO:0001819	synonymous_variant	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10292482C>T	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.96C>T	1.37:g.10292482C>T			Somatic				KIF1B_ENST00000377081.1_Silent_p.G32G|KIF1B_ENST00000377083.1_Silent_p.G32G|KIF1B_ENST00000263934.6_Silent_p.G32G|KIF1B_ENST00000377093.4_Silent_p.G32G	p.G32G			WXS	Illumina GAIIx	Phase_I	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	2	298	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	32			Kinesin-motor.		A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Silent	SNP	ENST00000377086.1	37	c.96C>T																																																																																					0.458	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			6	28	6	28	---	---	---	---
MASP2	10747	broad.mit.edu	37	1	11090302	11090302	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr1:11090302A>T	ENST00000400897.3	-	10	1243	c.1228T>A	c.(1228-1230)Tat>Aat	p.Y410N	RP4-635E18.8_ENST00000607145.1_RNA	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	410	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|complement component C4b binding (GO:0001855)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.Y410N(1)		biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		TCACACACATATTTACCTGCA	0.393																																					GBM(35;611 746 20780 22741 36496)	ENST00000400897.3																			1	Substitution - Missense(1)	p.Y410N(1)	prostate(1)	biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(1228-1230)Tat>Aat		mannan-binding lectin serine peptidase 2							111.0	108.0	109.0					1																	11090302		2203	4300	6503	SO:0001583	missense	10747				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity	g.chr1:11090302A>T	X98400	CCDS123.1, CCDS124.1	1p36.3-p36.2	2014-09-17	2005-08-17		ENSG00000009724	ENSG00000009724			6902	protein-coding gene	gene with protein product		605102	"""mannan-binding lectin serine protease 2"", ""mannan-binding lectin serine peptidase 1 pseudogene 1"", ""mannan-binding lectin serine protease 1 pseudogene 1"""	MASP1P1		9087411, 9777418	Standard	NM_006610		Approved		uc001aru.3	O00187	OTTHUMG00000002121	ENST00000400897.3:c.1228T>A	1.37:g.11090302A>T	ENSP00000383690:p.Tyr410Asn		Somatic				RP4-635E18.8_ENST00000607145.1_RNA	p.Y410N	NM_006610.3	NP_006601.2	WXS	Illumina GAIIx	Phase_I	O00187	MASP2_HUMAN	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	10	1243	-	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	410			Sushi 2.		A8K458|A8MWJ2|O75754|Q5TEQ5|Q5TER0|Q96QG4|Q9BZH0|Q9H498|Q9H499|Q9UBP3|Q9UC48|Q9ULC7|Q9UMV3|Q9Y270	Missense_Mutation	SNP	ENST00000400897.3	37	c.1228T>A	CCDS123.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.992023	0.74703	.	.	ENSG00000009724	ENST00000400897	T	0.65178	-0.14	5.63	5.63	0.86233	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000002	D	0.83644	0.5299	M	0.92169	3.28	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	D	0.87842	0.2652	10	0.87932	D	0	.	15.5059	0.75739	1.0:0.0:0.0:0.0	.	410	O00187	MASP2_HUMAN	N	410	ENSP00000383690:Y410N	ENSP00000383690:Y410N	Y	-	1	0	MASP2	11012889	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.070000	0.71220	2.149000	0.67028	0.533000	0.62120	TAT		0.393	MASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006072.1	NM_006610		23	139	23	139	---	---	---	---
HTR6	3362	broad.mit.edu	37	1	20005147	20005147	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr1:20005147C>A	ENST00000289753.1	+	2	1269	c.802C>A	c.(802-804)Ctg>Atg	p.L268M		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	268					brain development (GO:0007420)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|long-term synaptic potentiation (GO:0060291)|negative regulation of acetylcholine secretion, neurotransmission (GO:0014058)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|synaptic transmission (GO:0007268)	cilium (GO:0005929)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)|serotonin receptor activity (GO:0004993)			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Mianserin(DB06148)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Quetiapine(DB01224)|Sertindole(DB06144)|Ziprasidone(DB00246)	GAAGGCCAGCCTGACGCTGGG	0.622																																					Esophageal Squamous(168;1879 2619 6848 21062)	ENST00000289753.1																			0				endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(802-804)Ctg>Atg		5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)						77.0	62.0	67.0					1																	20005147		2203	4300	6503	SO:0001583	missense	3362				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding	g.chr1:20005147C>A	L41147	CCDS197.1	1p36-p35	2012-08-08	2012-02-03		ENSG00000158748	ENSG00000158748		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5301	protein-coding gene	gene with protein product		601109	"""5-hydroxytryptamine (serotonin) receptor 6"""			8522988	Standard	NM_000871		Approved	5-HT6, 5-HT6R	uc001bcl.3	P50406	OTTHUMG00000002713	ENST00000289753.1:c.802C>A	1.37:g.20005147C>A	ENSP00000289753:p.Leu268Met		Somatic					p.L268M	NM_000871.1	NP_000862.1	WXS	Illumina GAIIx	Phase_I	P50406	5HT6R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	2	1269	+		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	268					Q13640|Q5TGZ1	Missense_Mutation	SNP	ENST00000289753.1	37	c.802C>A	CCDS197.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.348257	0.61183	.	.	ENSG00000158748	ENST00000289753	T	0.37915	1.17	5.22	1.7	0.24286	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000005	T	0.46870	0.1415	L	0.54323	1.7	0.24638	N	0.993589	D	0.76494	0.999	D	0.75020	0.985	T	0.16928	-1.0386	9	.	.	.	.	6.2579	0.20884	0.1479:0.6446:0.0:0.2075	.	268	P50406	5HT6R_HUMAN	M	268	ENSP00000289753:L268M	.	L	+	1	2	HTR6	19877734	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.977000	0.40589	0.657000	0.30906	0.561000	0.74099	CTG		0.622	HTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007704.1	NM_000871		4	105	4	105	---	---	---	---
ZSWIM5	57643	broad.mit.edu	37	1	45484152	45484152	+	Silent	SNP	G	G	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr1:45484152G>A	ENST00000359600.5	-	14	3737	c.3532C>T	c.(3532-3534)Ctg>Ttg	p.L1178L		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	1178						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CGCACCAGCAGCATCAACTTT	0.557											OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000359600.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28						c.(3532-3534)Ctg>Ttg		zinc finger, SWIM-type containing 5							103.0	102.0	102.0					1																	45484152		2025	4182	6207	SO:0001819	synonymous_variant	57643						zinc ion binding	g.chr1:45484152G>A	AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"""Zinc fingers, SWIM-type"""	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.3532C>T	1.37:g.45484152G>A			Somatic	OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	932		p.L1178L	NM_020883.1	NP_065934.1	WXS	Illumina GAIIx	Phase_I	Q9P217	ZSWM5_HUMAN			14	3737	-	Acute lymphoblastic leukemia(166;0.155)		1178					Q5SXQ9	Silent	SNP	ENST00000359600.5	37	c.3532C>T	CCDS41319.1																																																																																				0.557	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024823.2	XM_046581		5	243	5	243	---	---	---	---
GSTM2	2946	broad.mit.edu	37	1	110217403	110217403	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr1:110217403G>T	ENST00000241337.4	+	8	652	c.602G>T	c.(601-603)aGc>aTc	p.S201I	GSTM2_ENST00000369827.3_Missense_Mutation_p.S162I|GSTM2_ENST00000369831.2_Intron|GSTM2_ENST00000460717.3_Intron|GSTM2_ENST00000442650.1_Intron|GSTM2_ENST00000414179.2_Intron	NM_000848.3	NP_000839.1	P28161	GSTM2_HUMAN	glutathione S-transferase mu 2 (muscle)	201	GST C-terminal.				cellular detoxification of nitrogen compound (GO:0070458)|cellular response to caffeine (GO:0071313)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|nitrobenzene metabolic process (GO:0018916)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|relaxation of cardiac muscle (GO:0055119)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.S201I(1)		kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	ATGAAGTCCAGCCGCTTCCTC	0.577																																						ENST00000241337.4																			1	Substitution - Missense(1)	p.S201I(1)	prostate(1)	kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11						c.(601-603)aGc>aTc		glutathione S-transferase mu 2 (muscle)							145.0	127.0	133.0					1																	110217403		2201	4298	6499	SO:0001583	missense	2946							g.chr1:110217403G>T	M63509	CCDS808.1, CCDS44192.1	1p13.3	2012-06-21	2008-11-26		ENSG00000213366	ENSG00000213366	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4634	protein-coding gene	gene with protein product		138380	"""glutathione S-transferase M2 (muscle)"""			2034681, 2345169	Standard	NM_000848		Approved	GST4		P28161	OTTHUMG00000011638	ENST00000241337.4:c.602G>T	1.37:g.110217403G>T	ENSP00000241337:p.Ser201Ile		Somatic				GSTM2_ENST00000442650.1_Intron|GSTM2_ENST00000414179.2_Intron|GSTM2_ENST00000369831.2_Intron|GSTM2_ENST00000460717.3_Intron|GSTM2_ENST00000369827.3_Missense_Mutation_p.S162I	p.S201I	NM_000848.3	NP_000839.1	WXS	Illumina GAIIx	Phase_I				all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	8	652	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)						B4DRY4|E9PEM9|Q2M318|Q5TZY5|Q8WWE1	Missense_Mutation	SNP	ENST00000241337.4	37	c.602G>T	CCDS808.1	.	.	.	.	.	.	.	.	.	.	G	10.10	1.256587	0.22965	.	.	ENSG00000213366	ENST00000369827;ENST00000241337	T;T	0.03920	3.76;3.76	3.32	1.34	0.21922	Glutathione S-transferase, C-terminal-like (1);Glutathione S-transferase/chloride channel, C-terminal (1);	0.540049	0.18310	U	0.145123	T	0.03959	0.0111	M	0.92604	3.325	0.09310	N	1	B;B	0.30686	0.29;0.193	B;B	0.32465	0.146;0.095	T	0.18999	-1.0319	10	0.62326	D	0.03	.	4.0318	0.09713	0.1406:0.2506:0.6088:0.0	.	201;201	P28161;Q0D2I8	GSTM2_HUMAN;.	I	162;201	ENSP00000358842:S162I;ENSP00000241337:S201I	ENSP00000241337:S201I	S	+	2	0	GSTM2	110018926	0.976000	0.34144	0.544000	0.28141	0.168000	0.22595	0.788000	0.26872	0.700000	0.31782	-0.479000	0.04858	AGC		0.577	GSTM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032167.2	NM_000848		20	137	20	137	---	---	---	---
GSTM2	2946	broad.mit.edu	37	1	110217413	110217413	+	Silent	SNP	C	C	G	rs376043733		TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr1:110217413C>G	ENST00000241337.4	+	8	662	c.612C>G	c.(610-612)ctC>ctG	p.L204L	GSTM2_ENST00000369827.3_Silent_p.L165L|GSTM2_ENST00000369831.2_Intron|GSTM2_ENST00000460717.3_Intron|GSTM2_ENST00000442650.1_Intron|GSTM2_ENST00000414179.2_Intron	NM_000848.3	NP_000839.1	P28161	GSTM2_HUMAN	glutathione S-transferase mu 2 (muscle)	204	GST C-terminal.				cellular detoxification of nitrogen compound (GO:0070458)|cellular response to caffeine (GO:0071313)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|nitrobenzene metabolic process (GO:0018916)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|relaxation of cardiac muscle (GO:0055119)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.L204L(2)		kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	GCCGCTTCCTCCCAAGACCTG	0.582																																						ENST00000241337.4																			2	Substitution - coding silent(2)	p.L204L(2)	prostate(1)|kidney(1)	kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11						c.(610-612)ctC>ctG		glutathione S-transferase mu 2 (muscle)							170.0	148.0	155.0					1																	110217413		2202	4298	6500	SO:0001819	synonymous_variant	2946							g.chr1:110217413C>G	M63509	CCDS808.1, CCDS44192.1	1p13.3	2012-06-21	2008-11-26		ENSG00000213366	ENSG00000213366	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4634	protein-coding gene	gene with protein product		138380	"""glutathione S-transferase M2 (muscle)"""			2034681, 2345169	Standard	NM_000848		Approved	GST4		P28161	OTTHUMG00000011638	ENST00000241337.4:c.612C>G	1.37:g.110217413C>G			Somatic				GSTM2_ENST00000442650.1_Intron|GSTM2_ENST00000414179.2_Intron|GSTM2_ENST00000369831.2_Intron|GSTM2_ENST00000460717.3_Intron|GSTM2_ENST00000369827.3_Silent_p.L165L	p.L204L	NM_000848.3	NP_000839.1	WXS	Illumina GAIIx	Phase_I				all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	8	662	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)						B4DRY4|E9PEM9|Q2M318|Q5TZY5|Q8WWE1	Silent	SNP	ENST00000241337.4	37	c.612C>G	CCDS808.1																																																																																				0.582	GSTM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032167.2	NM_000848		23	146	23	146	---	---	---	---
EPRS	2058	broad.mit.edu	37	1	220205767	220205767	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr1:220205767C>G	ENST00000366923.3	-	5	759	c.490G>C	c.(490-492)Ggt>Cgt	p.G164R		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	164	Glutamate--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	CACTTGGTACCTACTGACTGG	0.438																																						ENST00000366923.3																			0				breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63						c.(490-492)Ggt>Cgt		glutamyl-prolyl-tRNA synthetase	L-Glutamic Acid(DB00142)|L-Proline(DB00172)						116.0	105.0	108.0					1																	220205767		2203	4300	6503	SO:0001583	missense	2058				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	g.chr1:220205767C>G	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.490G>C	1.37:g.220205767C>G	ENSP00000355890:p.Gly164Arg		Somatic					p.G164R	NM_004446.2	NP_004437.2	WXS	Illumina GAIIx	Phase_I	P07814	SYEP_HUMAN		GBM - Glioblastoma multiforme(131;0.0735)	5	759	-			164			Glutamyl-tRNA synthetase.		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	c.490G>C	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.934818	0.52866	.	.	ENSG00000136628	ENST00000366923;ENST00000536921;ENST00000435048	T	0.06849	3.25	5.84	4.93	0.64822	.	0.049607	0.85682	D	0.000000	T	0.15998	0.0385	M	0.67953	2.075	0.47123	D	0.999328	P;P	0.42010	0.768;0.558	P;B	0.47573	0.55;0.155	T	0.03344	-1.1046	10	0.25106	T	0.35	-15.8256	13.0492	0.58944	0.0:0.9259:0.0:0.0741	.	164;164	Q3KQZ8;P07814	.;SYEP_HUMAN	R	164	ENSP00000355890:G164R	ENSP00000355890:G164R	G	-	1	0	EPRS	218272390	0.912000	0.30974	0.311000	0.25182	0.817000	0.46193	2.850000	0.48294	1.480000	0.48289	0.557000	0.71058	GGT		0.438	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446		4	127	4	127	---	---	---	---
DRC1	92749	broad.mit.edu	37	2	26671662	26671662	+	Silent	SNP	T	T	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:26671662T>C	ENST00000288710.2	+	11	1574	c.1500T>C	c.(1498-1500)tgT>tgC	p.C500C		NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	500					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)											TGCTCCTGTGTGACGAGTCGG	0.602																																						ENST00000288710.2																			0											c.(1498-1500)tgT>tgC		dynein regulatory complex subunit 1 homolog (Chlamydomonas)							77.0	92.0	87.0					2																	26671662		2203	4300	6503	SO:0001819	synonymous_variant	92749							g.chr2:26671662T>C	AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"""chromosome 2 open reading frame 39"", ""coiled-coil domain containing 164"", ""dynein regulatory complex subunit 1 homolog (Chlamydomonas)"""	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.1500T>C	2.37:g.26671662T>C			Somatic					p.C500C	NM_145038.2	NP_659475.2	WXS	Illumina GAIIx	Phase_I					11	1574	+								A8K1N8|Q53R91|Q53TA3|Q8NDI5	Silent	SNP	ENST00000288710.2	37	c.1500T>C	CCDS1723.1																																																																																				0.602	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246862.1	NM_145038		8	269	8	269	---	---	---	---
RTKN	6242	broad.mit.edu	37	2	74666743	74666743	+	Missense_Mutation	SNP	C	C	T	rs112456374		TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:74666743C>T	ENST00000305557.5	-	2	592	c.7G>A	c.(7-9)Gac>Aac	p.D3N	RTKN_ENST00000272430.5_Intron|RTKN_ENST00000484453.1_Intron|RTKN_ENST00000233330.6_Intron	NM_033046.2	NP_149035.1			rhotekin									p.D3N(1)		endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						TGCAATCTGTCCTGCATCTCT	0.577																																						ENST00000305557.5																			1	Substitution - Missense(1)	p.D3N(1)	prostate(1)	endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						c.(7-9)Gac>Aac		rhotekin		C	,,ASN/ASP	0,4406		0,0,2203	180.0	129.0	147.0		,,7	4.9	1.0	2	dbSNP_132	147	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,missense	RTKN	NM_001015055.1,NM_001015056.1,NM_033046.2	,,23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	,,3/551	74666743	1,13005	2203	4300	6503	SO:0001583	missense	6242				apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity	g.chr2:74666743C>T	AF049227	CCDS1941.1, CCDS33226.1, CCDS42699.1	2p13.1	2013-01-10			ENSG00000114993	ENSG00000114993		"""Pleckstrin homology (PH) domain containing"""	10466	protein-coding gene	gene with protein product		602288				9073523, 10940294	Standard	XM_005264478		Approved	B5	uc002sle.3	Q9BST9	OTTHUMG00000129955	ENST00000305557.5:c.7G>A	2.37:g.74666743C>T	ENSP00000305298:p.Asp3Asn		Somatic				RTKN_ENST00000233330.6_Intron|RTKN_ENST00000272430.5_Intron|RTKN_ENST00000484453.1_Intron	p.D3N	NM_033046.2	NP_149035.1	WXS	Illumina GAIIx	Phase_I	Q9BST9	RTKN_HUMAN			2	592	-			0						Missense_Mutation	SNP	ENST00000305557.5	37	c.7G>A	CCDS1941.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.973540	0.92919	0.0	1.16E-4	ENSG00000114993	ENST00000305557	T	0.36699	1.24	4.95	4.95	0.65309	.	.	.	.	.	T	0.61375	0.2342	.	.	.	0.80722	D	1	D	0.67145	0.996	D	0.79784	0.993	T	0.65627	-0.6122	8	0.72032	D	0.01	.	15.7188	0.77691	0.0:1.0:0.0:0.0	.	3	Q9BST9-2	.	N	3	ENSP00000305298:D3N	ENSP00000305298:D3N	D	-	1	0	RTKN	74520251	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.171000	0.58236	2.581000	0.87130	0.563000	0.77884	GAC		0.577	RTKN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252217.4	NM_001015055		11	48	11	48	---	---	---	---
EIF2AK3	9451	broad.mit.edu	37	2	88870483	88870483	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:88870483T>A	ENST00000303236.3	-	14	3195	c.2894A>T	c.(2893-2895)gAt>gTt	p.D965V	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.D814V|AC104134.2_ENST00000413234.1_RNA|EIF2AK3_ENST00000470706.1_5'UTR	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	965	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)	p.D965V(2)		ovary(3)	3						CTCTTCCTCATCCTGGTCCAT	0.463																																					GBM(138;671 1851 16235 39058 45249)	ENST00000303236.3																			2	Substitution - Missense(2)	p.D965V(2)	prostate(2)	ovary(3)	3						c.(2893-2895)gAt>gTt		eukaryotic translation initiation factor 2-alpha kinase 3							272.0	230.0	244.0					2																	88870483		2203	4300	6503	SO:0001583	missense	9451				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	g.chr2:88870483T>A	AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.2894A>T	2.37:g.88870483T>A	ENSP00000307235:p.Asp965Val		Somatic				EIF2AK3_ENST00000470706.1_5'UTR|EIF2AK3_ENST00000419748.1_Missense_Mutation_p.D814V|AC104134.2_ENST00000413234.1_RNA	p.D965V	NM_004836.5	NP_004827.4	WXS	Illumina GAIIx	Phase_I	Q9NZJ5	E2AK3_HUMAN			14	3195	-			965			Protein kinase.		A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Missense_Mutation	SNP	ENST00000303236.3	37	c.2894A>T	CCDS33241.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.858899	0.91433	.	.	ENSG00000172071	ENST00000419748;ENST00000303236;ENST00000535951;ENST00000415570	T;T;T	0.20069	2.1;2.1;2.1	5.9	5.9	0.94986	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.27349	0.0671	L	0.27053	0.805	0.80722	D	1	D	0.57899	0.981	P	0.54759	0.76	T	0.01428	-1.1357	10	0.32370	T	0.25	-29.1053	16.3264	0.82983	0.0:0.0:0.0:1.0	.	965	Q9NZJ5	E2AK3_HUMAN	V	814;965;814;844	ENSP00000408325:D814V;ENSP00000307235:D965V;ENSP00000412076:D844V	ENSP00000307235:D965V	D	-	2	0	EIF2AK3	88651598	1.000000	0.71417	0.992000	0.48379	0.979000	0.70002	8.040000	0.89188	2.259000	0.74868	0.374000	0.22700	GAT		0.463	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836		39	252	39	252	---	---	---	---
NPAS2	4862	broad.mit.edu	37	2	101591316	101591316	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:101591316G>A	ENST00000335681.5	+	13	1477	c.1192G>A	c.(1192-1194)Ggt>Agt	p.G398S	AC016738.3_ENST00000433012.1_RNA|AC016738.3_ENST00000446644.1_RNA|NPAS2_ENST00000542504.1_Missense_Mutation_p.G463S|AC016738.3_ENST00000439150.1_RNA	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	398					cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.G398S(1)		cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACTCGACGTGGGTGCCTCGGG	0.532																																						ENST00000335681.5																			1	Substitution - Missense(1)	p.G398S(1)	prostate(1)	cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1192-1194)Ggt>Agt		neuronal PAS domain protein 2							102.0	88.0	93.0					2																	101591316		2203	4300	6503	SO:0001583	missense	4862				central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:101591316G>A	U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"""Basic helix-loop-helix proteins"""	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.1192G>A	2.37:g.101591316G>A	ENSP00000338283:p.Gly398Ser		Somatic				NPAS2_ENST00000542504.1_Missense_Mutation_p.G463S|AC016738.3_ENST00000439150.1_RNA|AC016738.3_ENST00000446644.1_RNA	p.G398S	NM_002518.3	NP_002509.2	WXS	Illumina GAIIx	Phase_I	Q99743	NPAS2_HUMAN			13	1477	+			398					Q4ZFV9|Q53SQ3|Q86V96|Q99629	Missense_Mutation	SNP	ENST00000335681.5	37	c.1192G>A	CCDS2048.1	.	.	.	.	.	.	.	.	.	.	G	9.128	1.010767	0.19277	.	.	ENSG00000170485	ENST00000335681;ENST00000542504	T;T	0.05319	3.49;3.46	6.17	5.3	0.74995	.	0.256694	0.46758	N	0.000273	T	0.06508	0.0167	L	0.41079	1.255	0.18873	N	0.999981	B;B	0.25955	0.138;0.047	B;B	0.23852	0.049;0.015	T	0.31558	-0.9939	10	0.29301	T	0.29	.	10.745	0.46175	0.1437:0.0:0.8563:0.0	.	463;398	F5H027;Q99743	.;NPAS2_HUMAN	S	398;463	ENSP00000338283:G398S;ENSP00000438428:G463S	ENSP00000338283:G398S	G	+	1	0	NPAS2	100957748	0.881000	0.30235	0.014000	0.15608	0.073000	0.16967	2.092000	0.41700	1.631000	0.50456	0.655000	0.94253	GGT		0.532	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253168.3			18	82	18	82	---	---	---	---
ITGA6	3655	broad.mit.edu	37	2	173349859	173349859	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:173349859G>C	ENST00000264106.6	+	14	2041	c.1838G>C	c.(1837-1839)aGa>aCa	p.R613T	ITGA6_ENST00000375221.2_Missense_Mutation_p.R613T|ITGA6_ENST00000409532.1_Missense_Mutation_p.R455T|ITGA6_ENST00000343713.4_Missense_Mutation_p.R569T|ITGA6_ENST00000409080.1_Missense_Mutation_p.R574T|ITGA6_ENST00000264107.7_Missense_Mutation_p.R574T|AC093818.1_ENST00000442417.1_RNA			P23229	ITA6_HUMAN	integrin, alpha 6	613					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			GATAATATCAGAGATAAACTG	0.428																																						ENST00000375221.2																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44						c.(1837-1839)aGa>aCa		integrin, alpha 6							86.0	83.0	84.0					2																	173349859		2203	4300	6503	SO:0001583	missense	3655				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity	g.chr2:173349859G>C		CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"""CD molecules"", ""Integrins"""	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.1838G>C	2.37:g.173349859G>C	ENSP00000264106:p.Arg613Thr		Somatic				AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000264106.6_Missense_Mutation_p.R613T|ITGA6_ENST00000409532.1_Missense_Mutation_p.R455T|ITGA6_ENST00000343713.4_Missense_Mutation_p.R569T|ITGA6_ENST00000409080.1_Missense_Mutation_p.R574T|ITGA6_ENST00000264107.7_Missense_Mutation_p.R574T	p.R613T			WXS	Illumina GAIIx	Phase_I	P23229	ITA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0979)		14	2041	+			613					B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	ENST00000264106.6	37	c.1838G>C		.	.	.	.	.	.	.	.	.	.	G	16.75	3.208641	0.58343	.	.	ENSG00000091409	ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358	T;T;T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6	5.8	5.8	0.92144	.	0.123903	0.64402	D	0.000001	T	0.67353	0.2884	M	0.74389	2.26	0.49915	D	0.999834	P;P;P;P	0.51933	0.486;0.949;0.734;0.734	B;P;P;P	0.58928	0.356;0.848;0.535;0.571	T	0.70502	-0.4854	10	0.87932	D	0	.	11.382	0.49763	0.1136:0.0:0.8864:0.0	.	569;613;574;574	P23229-4;P23229-9;G5E9H1;P23229-2	.;.;.;.	T	455;574;613;613;569;574;613;569	ENSP00000386614:R455T;ENSP00000264107:R574T;ENSP00000264106:R613T;ENSP00000364369:R613T;ENSP00000341078:R569T;ENSP00000386896:R574T;ENSP00000406694:R613T;ENSP00000394169:R569T	ENSP00000264106:R613T	R	+	2	0	ITGA6	173058105	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.690000	0.47001	2.735000	0.93741	0.655000	0.94253	AGA		0.428	ITGA6-201	KNOWN	basic	protein_coding	protein_coding				6	171	6	171	---	---	---	---
STAT4	6775	broad.mit.edu	37	2	191897839	191897839	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:191897839T>G	ENST00000392320.2	-	21	2203	c.1889A>C	c.(1888-1890)aAa>aCa	p.K630T	AC067945.4_ENST00000456176.1_RNA|STAT4_ENST00000358470.4_Missense_Mutation_p.K630T	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	630	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			CAACCGGCCTTTATTGTAGGG	0.423																																						ENST00000392320.2																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42						c.(1888-1890)aAa>aCa		signal transducer and activator of transcription 4							90.0	92.0	91.0					2																	191897839		2203	4300	6503	SO:0001583	missense	6775				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191897839T>G		CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"""SH2 domain containing"""	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.1889A>C	2.37:g.191897839T>G	ENSP00000376134:p.Lys630Thr		Somatic				STAT4_ENST00000358470.4_Missense_Mutation_p.K630T	p.K630T	NM_003151.3	NP_003142.1	WXS	Illumina GAIIx	Phase_I	Q14765	STAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)		21	2203	-			630			SH2.		Q96NZ6	Missense_Mutation	SNP	ENST00000392320.2	37	c.1889A>C	CCDS2310.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.784991	0.90282	.	.	ENSG00000138378	ENST00000358470;ENST00000392320	D;D	0.96554	-4.05;-4.05	5.38	5.38	0.77491	SH2 motif (3);	0.000000	0.85682	D	0.000000	D	0.97467	0.9171	L	0.56396	1.775	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.998;0.998;0.998	D	0.98348	1.0542	10	0.87932	D	0	-54.9658	15.6918	0.77461	0.0:0.0:0.0:1.0	.	539;630;630	Q53S87;B4DV04;Q14765	.;.;STAT4_HUMAN	T	630	ENSP00000351255:K630T;ENSP00000376134:K630T	ENSP00000351255:K630T	K	-	2	0	STAT4	191606084	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.997000	0.88414	2.159000	0.67721	0.528000	0.53228	AAA		0.423	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	NM_003151		3	128	3	128	---	---	---	---
ICA1L	130026	broad.mit.edu	37	2	203661648	203661648	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:203661648T>A	ENST00000392237.2	-	11	1107	c.950A>T	c.(949-951)gAa>gTa	p.E317V	ICA1L_ENST00000358299.2_Missense_Mutation_p.E317V	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like	317								p.E317V(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGCTCCAAATTCTCTCATTTG	0.279																																						ENST00000392237.2																			1	Substitution - Missense(1)	p.E317V(1)	prostate(1)	breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(949-951)gAa>gTa		islet cell autoantigen 1,69kDa-like							83.0	79.0	80.0					2																	203661648		2201	4295	6496	SO:0001583	missense	130026							g.chr2:203661648T>A	AB053317	CCDS2354.1, CCDS74632.1	2q33	2008-02-05	2006-05-26	2006-05-26	ENSG00000163596	ENSG00000163596			14442	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 15"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 14"""	ALS2CR15, ALS2CR14		11586298	Standard	NM_138468		Approved		uc002uzh.1	Q8NDH6	OTTHUMG00000132856	ENST00000392237.2:c.950A>T	2.37:g.203661648T>A	ENSP00000376070:p.Glu317Val		Somatic				ICA1L_ENST00000358299.2_Missense_Mutation_p.E317V	p.E317V	NM_138468.4	NP_612477.3	WXS	Illumina GAIIx	Phase_I	Q8NDH6	ICA1L_HUMAN			11	1107	-			317					B3KRW6|Q53P45|Q53QZ4|Q53T97|Q96N47|Q96Q32|Q9BVQ2	Missense_Mutation	SNP	ENST00000392237.2	37	c.950A>T	CCDS2354.1	.	.	.	.	.	.	.	.	.	.	t	11.24	1.580975	0.28180	.	.	ENSG00000163596	ENST00000392237;ENST00000358299	.	.	.	3.65	2.49	0.30216	Islet cell autoantigen Ica1, C-terminal (1);	0.633514	0.15808	N	0.243638	T	0.50274	0.1606	M	0.63428	1.95	0.80722	D	1	B	0.24317	0.101	B	0.25506	0.061	T	0.43718	-0.9374	9	0.45353	T	0.12	.	5.5385	0.17026	0.0:0.1345:0.0:0.8655	.	317	Q8NDH6	ICA1L_HUMAN	V	317	.	ENSP00000351047:E317V	E	-	2	0	ICA1L	203369893	0.671000	0.27521	0.929000	0.37066	0.850000	0.48378	1.421000	0.34815	0.431000	0.26258	0.478000	0.44815	GAA		0.279	ICA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256330.1	NM_138468		11	86	11	86	---	---	---	---
PTH2R	5746	broad.mit.edu	37	2	209302260	209302260	+	Splice_Site	SNP	A	A	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:209302260A>T	ENST00000272847.2	+	3	391		c.e3-1		PTH2R_ENST00000413482.1_Splice_Site	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor						G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	TTTTCTCATTAGAAGGTAATT	0.348																																						ENST00000272847.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43						c.e3-1		parathyroid hormone 2 receptor							51.0	54.0	53.0					2																	209302260		2198	4299	6497	SO:0001630	splice_region_variant	5746					integral to plasma membrane	parathyroid hormone receptor activity	g.chr2:209302260A>T	BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"""GPCR / Class B : Parathyroid hormone receptors"""	9609	protein-coding gene	gene with protein product		601469	"""parathyroid hormone receptor 2"""	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.179-1A>T	2.37:g.209302260A>T			Somatic				PTH2R_ENST00000413482.1_Splice_Site		NM_005048.2	NP_005039.1	WXS	Illumina GAIIx	Phase_I	P49190	PTH2R_HUMAN		Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	3	391	+								Q8N429	Splice_Site	SNP	ENST00000272847.2	37		CCDS2383.1	.	.	.	.	.	.	.	.	.	.	A	11.15	1.553764	0.27739	.	.	ENSG00000144407	ENST00000272847	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0249	0.64580	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTH2R	209010505	1.000000	0.71417	0.714000	0.30535	0.016000	0.09150	6.392000	0.73213	2.254000	0.74563	0.460000	0.39030	.		0.348	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256519.2	NM_005048	Intron	4	141	4	141	---	---	---	---
ASIC4	55515	broad.mit.edu	37	2	220396491	220396491	+	Silent	SNP	C	C	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:220396491C>T	ENST00000347842.3	+	2	989	c.975C>T	c.(973-975)cgC>cgT	p.R325R	ASIC4_ENST00000358078.4_Silent_p.R325R|ASIC4_ENST00000473709.1_3'UTR	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	325					ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081)										TCTATACTCGCTATGGGAAGT	0.632																																						ENST00000358078.4																			0											c.(973-975)cgC>cgT		acid-sensing (proton-gated) ion channel family member 4							62.0	66.0	65.0					2																	220396491		2203	4300	6503	SO:0001819	synonymous_variant	55515					integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity	g.chr2:220396491C>T	AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	21263	protein-coding gene	gene with protein product		606715	"""amiloride-sensitive cation channel 4, pituitary"", ""amiloride-sensitive cation channel family member 4, pituitary"""	ACCN4		10852210	Standard	NM_182847		Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000347842.3:c.975C>T	2.37:g.220396491C>T			Somatic				ASIC4_ENST00000347842.3_Silent_p.R325R|ASIC4_ENST00000473709.1_3'UTR	p.R325R			WXS	Illumina GAIIx	Phase_I	Q96FT7	ACCN4_HUMAN			2	989	+			325					Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Silent	SNP	ENST00000347842.3	37	c.975C>T	CCDS2442.1																																																																																				0.632	ASIC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130263.1	NM_018674		7	209	7	209	---	---	---	---
NDUFA10	4705	broad.mit.edu	37	2	240960668	240960668	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:240960668A>G	ENST00000252711.2	-	3	506	c.406T>C	c.(406-408)Tac>Cac	p.Y136H	NDUFA10_ENST00000307300.4_Missense_Mutation_p.Y136H|NDUFA10_ENST00000404554.1_Missense_Mutation_p.Y136H|NDUFA10_ENST00000407129.3_Missense_Mutation_p.Y136H	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	136					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|nucleoside kinase activity (GO:0019206)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)		CGACTGCTGTACAACCAGGAC	0.498											OREG0015348	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000252711.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16						c.(406-408)Tac>Cac		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	NADH(DB00157)						96.0	85.0	89.0					2																	240960668		2203	4300	6503	SO:0001583	missense	4705				mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor	g.chr2:240960668A>G	AF087661	CCDS2531.1	2q37.3	2011-07-04	2002-08-29		ENSG00000130414	ENSG00000130414		"""Mitochondrial respiratory chain complex / Complex I"""	7684	protein-coding gene	gene with protein product	"""complex I 42kDa subunit"""	603835	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10 (42kD)"""			9878551	Standard	NM_004544		Approved	CI-42k	uc002vyn.3	O95299	OTTHUMG00000133350	ENST00000252711.2:c.406T>C	2.37:g.240960668A>G	ENSP00000252711:p.Tyr136His		Somatic	OREG0015348	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2423	NDUFA10_ENST00000404554.1_Missense_Mutation_p.Y136H|NDUFA10_ENST00000407129.3_Missense_Mutation_p.Y136H|NDUFA10_ENST00000307300.4_Missense_Mutation_p.Y136H	p.Y136H	NM_004544.3	NP_004535.1	WXS	Illumina GAIIx	Phase_I	O95299	NDUAA_HUMAN		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	3	506	-		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	136					Q8WXC9	Missense_Mutation	SNP	ENST00000252711.2	37	c.406T>C	CCDS2531.1	.	.	.	.	.	.	.	.	.	.	A	17.50	3.405444	0.62288	.	.	ENSG00000130414	ENST00000252711;ENST00000404554;ENST00000422018;ENST00000443626;ENST00000307300;ENST00000407129	D;D;D;D;D	0.94793	-3.52;-3.52;-3.52;-3.52;-3.52	4.65	4.65	0.58169	.	0.060806	0.64402	D	0.000002	D	0.96713	0.8927	M	0.77103	2.36	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.81914	0.994;0.968;0.99;0.995	D	0.97087	0.9788	10	0.87932	D	0	-23.3071	12.3192	0.54975	1.0:0.0:0.0:0.0	.	136;136;141;136	Q8WXC9;Q8N1B9;Q59FM0;O95299	.;.;.;NDUAA_HUMAN	H	136	ENSP00000252711:Y136H;ENSP00000385697:Y136H;ENSP00000411527:Y136H;ENSP00000302321:Y136H;ENSP00000383975:Y136H	ENSP00000252711:Y136H	Y	-	1	0	NDUFA10	240609341	1.000000	0.71417	0.994000	0.49952	0.225000	0.24961	8.568000	0.90741	1.865000	0.54081	0.460000	0.39030	TAC		0.498	NDUFA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257180.2	NM_004544		3	97	3	97	---	---	---	---
CCR4	1233	broad.mit.edu	37	3	32995672	32995672	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr3:32995672G>T	ENST00000330953.5	+	2	926	c.758G>T	c.(757-759)gGg>gTg	p.G253V		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	253					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuron migration (GO:0001764)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of positive chemotaxis (GO:0050927)|response to antibiotic (GO:0046677)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)|tolerance induction (GO:0002507)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						CTCTTCCTTGGGTTCTGGACA	0.468																																						ENST00000330953.5																			0				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						c.(757-759)gGg>gTg		chemokine (C-C motif) receptor 4							110.0	97.0	102.0					3																	32995672		2203	4300	6503	SO:0001583	missense	1233				chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane		g.chr3:32995672G>T	X85740	CCDS2656.1	3p24-p21.3	2012-08-08			ENSG00000183813	ENSG00000183813		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1605	protein-coding gene	gene with protein product		604836				7642634, 8884276	Standard	NM_005508		Approved	CC-CKR-4, CMKBR4, CKR4, k5-5, ChemR13, CD194	uc003cfg.1	P51679	OTTHUMG00000130752	ENST00000330953.5:c.758G>T	3.37:g.32995672G>T	ENSP00000332659:p.Gly253Val		Somatic					p.G253V	NM_005508.4	NP_005499.1	WXS	Illumina GAIIx	Phase_I	P51679	CCR4_HUMAN			2	926	+			253					Q9ULY6|Q9ULY7	Missense_Mutation	SNP	ENST00000330953.5	37	c.758G>T	CCDS2656.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.823402	0.32237	.	.	ENSG00000183813	ENST00000330953	T	0.30182	1.54	5.93	4.99	0.66335	GPCR, rhodopsin-like superfamily (1);	0.384697	0.22054	N	0.065270	T	0.09730	0.0239	N	0.00392	-1.555	0.22050	N	0.999394	B	0.09022	0.002	B	0.08055	0.003	T	0.16778	-1.0391	10	0.51188	T	0.08	.	11.533	0.50620	0.0:0.0:0.6338:0.3662	.	253	P51679	CCR4_HUMAN	V	253	ENSP00000332659:G253V	ENSP00000332659:G253V	G	+	2	0	CCR4	32970676	0.959000	0.32827	0.575000	0.28536	0.987000	0.75469	3.284000	0.51708	2.815000	0.96918	0.561000	0.74099	GGG		0.468	CCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253252.2			4	112	4	112	---	---	---	---
DNAH12	201625	broad.mit.edu	37	3	57488129	57488129	+	Silent	SNP	C	C	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr3:57488129C>T	ENST00000351747.2	-	10	1344	c.1164G>A	c.(1162-1164)gtG>gtA	p.V388V	DNAH12_ENST00000389536.4_Silent_p.V388V|DNAH12_ENST00000311202.6_Silent_p.V388V	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	388	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.V388V(2)		breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						CCCAGTGTAACACGTGTTCAG	0.388																																						ENST00000351747.2																			2	Substitution - coding silent(2)	p.V388V(2)	prostate(2)	breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						c.(1162-1164)gtG>gtA		dynein, axonemal, heavy chain 12							249.0	218.0	228.0					3																	57488129		2203	4300	6503	SO:0001819	synonymous_variant	201625				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:57488129C>T	U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"""Axonemal dyneins"""	2943	protein-coding gene	gene with protein product		603340	"""dynein, axonemal, heavy polypeptide 12"", ""dynein heavy chain domain 2"", ""dynein heavy domain 2"", ""dynein, axonemal, heavy chain 12-like"", ""dynein, axonemal, heavy chain 7-like"""	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.1164G>A	3.37:g.57488129C>T			Somatic				DNAH12_ENST00000389536.4_Silent_p.V388V|DNAH12_ENST00000311202.6_Silent_p.V388V	p.V388V	NM_178504.4	NP_848599.3	WXS	Illumina GAIIx	Phase_I	Q6ZR08	DYH12_HUMAN			10	1344	-			388			Stem (By similarity).		A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Silent	SNP	ENST00000351747.2	37	c.1164G>A																																																																																					0.388	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178504		48	224	48	224	---	---	---	---
UBA5	79876	broad.mit.edu	37	3	132394111	132394111	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr3:132394111A>T	ENST00000356232.4	+	9	1904	c.832A>T	c.(832-834)Act>Tct	p.T278S	UBA5_ENST00000494238.2_Missense_Mutation_p.T222S|UBA5_ENST00000473651.1_Missense_Mutation_p.T278S|UBA5_ENST00000264991.4_Missense_Mutation_p.T222S|UBA5_ENST00000493720.2_Missense_Mutation_p.T278S	NM_024818.3	NP_079094.1	Q9GZZ9	UBA5_HUMAN	ubiquitin-like modifier activating enzyme 5	278					protein ufmylation (GO:0071569)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|UFM1 activating enzyme activity (GO:0071566)			breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						AAATTTTGGTACTGTTAGTTT	0.294																																						ENST00000356232.4																			0				breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(832-834)Act>Tct		ubiquitin-like modifier activating enzyme 5							69.0	66.0	67.0					3																	132394111		2202	4300	6502	SO:0001583	missense	79876				protein ufmylation	aggresome|cytoplasm|nucleus	ATP binding|cofactor binding|metal ion binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding|UFM1 activating enzyme activity	g.chr3:132394111A>T	AY253672	CCDS3076.1, CCDS3077.1	3q22	2007-11-30	2007-11-30	2007-11-30	ENSG00000081307	ENSG00000081307		"""Ubiquitin-like modifier activating enzymes"""	23230	protein-coding gene	gene with protein product	"""UBA5, ubiquitin-activating enzyme E1 homolog (yeast)"""	610552	"""ubiquitin-activating enzyme E1-domain containing 1"""	UBE1DC1		11230166, 15071506	Standard	NM_198329		Approved	FLJ23251	uc003epa.4	Q9GZZ9	OTTHUMG00000159759	ENST00000356232.4:c.832A>T	3.37:g.132394111A>T	ENSP00000348565:p.Thr278Ser		Somatic				UBA5_ENST00000473651.1_Missense_Mutation_p.T278S|UBA5_ENST00000493720.2_Missense_Mutation_p.T278S|UBA5_ENST00000264991.4_Missense_Mutation_p.T222S|UBA5_ENST00000494238.2_Missense_Mutation_p.T222S	p.T278S	NM_024818.3	NP_079094.1	WXS	Illumina GAIIx	Phase_I	Q9GZZ9	UBA5_HUMAN			9	1904	+			278					A6NJL3|D3DNC8|Q96ST1	Missense_Mutation	SNP	ENST00000356232.4	37	c.832A>T	CCDS3076.1	.	.	.	.	.	.	.	.	.	.	A	14.09	2.432577	0.43224	.	.	ENSG00000081307	ENST00000264991;ENST00000356232;ENST00000493720;ENST00000473651;ENST00000494238	T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54	5.78	5.78	0.91487	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.157579	0.56097	D	0.000026	T	0.30039	0.0752	L	0.42686	1.345	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.03017	-1.1082	10	0.49607	T	0.09	-8.7736	16.0928	0.81102	1.0:0.0:0.0:0.0	.	278;278	E7EWE1;Q9GZZ9	.;UBA5_HUMAN	S	222;278;278;278;222	ENSP00000264991:T222S;ENSP00000348565:T278S;ENSP00000417879:T278S;ENSP00000424984:T278S;ENSP00000418807:T222S	ENSP00000264991:T222S	T	+	1	0	UBA5	133876801	1.000000	0.71417	0.973000	0.42090	0.992000	0.81027	7.090000	0.76916	2.192000	0.70111	0.482000	0.46254	ACT		0.294	UBA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357187.2	NM_024818		4	85	4	85	---	---	---	---
SLCO2A1	6578	broad.mit.edu	37	3	133672578	133672578	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr3:133672578C>G	ENST00000310926.4	-	5	926	c.653G>C	c.(652-654)gGa>gCa	p.G218A	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.G142A|SLCO2A1_ENST00000478651.1_5'Flank	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	218					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	GAAAGCCGGTCCAAATACAGA	0.517																																						ENST00000310926.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						c.(652-654)gGa>gCa		solute carrier organic anion transporter family, member 2A1							89.0	88.0	88.0					3																	133672578		2203	4300	6503	SO:0001583	missense	6578				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	g.chr3:133672578C>G		CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"""Solute carriers"""	10955	protein-coding gene	gene with protein product		601460	"""solute carrier family 21 (prostaglandin transporter), member 2"", ""matrin F/G 1"""	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.653G>C	3.37:g.133672578C>G	ENSP00000311291:p.Gly218Ala		Somatic				SLCO2A1_ENST00000493729.1_Missense_Mutation_p.G142A	p.G218A	NM_005630.2	NP_005621.2	WXS	Illumina GAIIx	Phase_I	Q92959	SO2A1_HUMAN			5	926	-			218					Q86V98|Q8IUN2	Missense_Mutation	SNP	ENST00000310926.4	37	c.653G>C	CCDS3084.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.856941	0.71834	.	.	ENSG00000174640	ENST00000310926;ENST00000493729	T;T	0.80909	-1.43;-1.43	5.4	5.4	0.78164	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.91095	0.7197	M	0.85373	2.75	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	0.987;1.0;0.986	D	0.92105	0.5691	10	0.72032	D	0.01	.	19.1817	0.93627	0.0:1.0:0.0:0.0	.	218;142;218	F8W9W8;E7EU40;Q92959	.;.;SO2A1_HUMAN	A	218;142	ENSP00000311291:G218A;ENSP00000418893:G142A	ENSP00000311291:G218A	G	-	2	0	SLCO2A1	135155268	1.000000	0.71417	0.426000	0.26672	0.996000	0.88848	7.137000	0.77295	2.526000	0.85167	0.561000	0.74099	GGA		0.517	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630		3	73	3	73	---	---	---	---
FAM193A	8603	broad.mit.edu	37	4	2691264	2691264	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr4:2691264C>A	ENST00000324666.5	+	12	1841	c.1490C>A	c.(1489-1491)aCa>aAa	p.T497K	FAM193A_ENST00000502458.1_Missense_Mutation_p.T519K|FAM193A_ENST00000545951.1_Missense_Mutation_p.T497K|FAM193A_ENST00000505311.1_Missense_Mutation_p.T497K|FAM193A_ENST00000382839.3_Missense_Mutation_p.T497K	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	497										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						CAGAATCACACAAATAAGCAT	0.328																																						ENST00000324666.5																			0				NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						c.(1489-1491)aCa>aAa		family with sequence similarity 193, member A							90.0	85.0	86.0					4																	2691264		2203	4300	6503	SO:0001583	missense	8603							g.chr4:2691264C>A	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.1490C>A	4.37:g.2691264C>A	ENSP00000324587:p.Thr497Lys		Somatic				FAM193A_ENST00000545951.1_Missense_Mutation_p.T497K|FAM193A_ENST00000505311.1_Missense_Mutation_p.T497K|FAM193A_ENST00000382839.3_Missense_Mutation_p.T497K|FAM193A_ENST00000502458.1_Missense_Mutation_p.T519K	p.T497K	NM_001256666.1	NP_001243595.1	WXS	Illumina GAIIx	Phase_I	P78312	F193A_HUMAN			12	1841	+			497					B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	ENST00000324666.5	37	c.1490C>A	CCDS58875.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.507674	0.64410	.	.	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458;ENST00000513350	T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78	5.38	5.38	0.77491	.	0.247430	0.39210	N	0.001428	T	0.38188	0.1031	L	0.50333	1.59	0.42181	D	0.991689	D;P;D;P;D	0.57257	0.979;0.787;0.979;0.827;0.979	P;B;P;B;P	0.51615	0.675;0.23;0.675;0.346;0.585	T	0.18555	-1.0333	10	0.72032	D	0.01	-17.7477	18.1813	0.89779	0.0:1.0:0.0:0.0	.	497;519;497;519;497	B9EGR0;E9PFA1;P78312;B7ZM85;P78312-2	.;.;F193A_HUMAN;.;.	K	497;497;497;519;351	ENSP00000372290:T497K;ENSP00000324587:T497K;ENSP00000443617:T497K;ENSP00000427505:T519K;ENSP00000427260:T351K	ENSP00000324587:T497K	T	+	2	0	FAM193A	2661062	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.850000	0.69473	2.532000	0.85374	0.558000	0.71614	ACA		0.328	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		5	151	5	151	---	---	---	---
GPRIN3	285513	broad.mit.edu	37	4	90170165	90170165	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr4:90170165C>T	ENST00000609438.1	-	2	1615	c.1097G>A	c.(1096-1098)gGg>gAg	p.G366E	GPRIN3_ENST00000333209.4_Missense_Mutation_p.G366E	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	366								p.G366E(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TGTGTGGCTCCCACTGCTGTG	0.582																																						ENST00000609438.1																			1	Substitution - Missense(1)	p.G366E(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36						c.(1096-1098)gGg>gAg		GPRIN family member 3							65.0	60.0	62.0					4																	90170165		2203	4300	6503	SO:0001583	missense	285513							g.chr4:90170165C>T	AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.1097G>A	4.37:g.90170165C>T	ENSP00000476603:p.Gly366Glu		Somatic				GPRIN3_ENST00000333209.4_Missense_Mutation_p.G366E	p.G366E	NM_198281.2	NP_938022.2	WXS	Illumina GAIIx	Phase_I	Q6ZVF9	GRIN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)	2	1615	-		Hepatocellular(203;0.114)						Q8IVE4	Missense_Mutation	SNP	ENST00000609438.1	37	c.1097G>A	CCDS34030.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.839143	0.51057	.	.	ENSG00000185477	ENST00000333209	T	0.12774	2.65	4.99	1.13	0.20643	.	0.753357	0.10915	N	0.620102	T	0.07052	0.0179	N	0.24115	0.695	0.09310	N	1	B	0.32365	0.367	B	0.27262	0.078	T	0.33675	-0.9859	10	0.33141	T	0.24	-2.6278	2.9214	0.05770	0.3994:0.2799:0.2376:0.0831	.	366	Q6ZVF9	GRIN3_HUMAN	E	366	ENSP00000328672:G366E	ENSP00000328672:G366E	G	-	2	0	GPRIN3	90389188	0.000000	0.05858	0.001000	0.08648	0.033000	0.12548	0.432000	0.21461	0.661000	0.30985	0.655000	0.94253	GGG		0.582	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	NM_198281		34	158	34	158	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187629931	187629931	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr4:187629931T>C	ENST00000441802.2	-	2	1260	c.1051A>G	c.(1051-1053)Aaa>Gaa	p.K351E		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	351					actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K351E(3)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGAATGACTTTAACAGAAGAG	0.458										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			3	Substitution - Missense(3)	p.K351E(3)	prostate(3)	NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(1051-1053)Aaa>Gaa		FAT atypical cadherin 1							139.0	131.0	134.0					4																	187629931		1862	4104	5966	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187629931T>C	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.1051A>G	4.37:g.187629931T>C	ENSP00000406229:p.Lys351Glu	HNSCC(5;0.00058)	Somatic					p.K351E	NM_005245.3	NP_005236.2	WXS	Illumina GAIIx	Phase_I	Q14517	FAT1_HUMAN			2	1260	-			351						Missense_Mutation	SNP	ENST00000441802.2	37	c.1051A>G	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	T	12.76	2.033911	0.35893	.	.	ENSG00000083857	ENST00000441802;ENST00000260147;ENST00000509647	T;T	0.60920	0.15;0.15	5.3	4.12	0.48240	Cadherin (1);	0.000000	0.85682	D	0.000000	T	0.65133	0.2662	M	0.67953	2.075	0.58432	D	0.999996	D	0.69078	0.997	P	0.60173	0.87	T	0.63703	-0.6577	10	0.09084	T	0.74	.	11.3332	0.49487	0.0:0.0713:0.0:0.9287	.	351	Q14517	FAT1_HUMAN	E	351	ENSP00000406229:K351E;ENSP00000423736:K351E	ENSP00000260147:K351E	K	-	1	0	FAT1	187866925	1.000000	0.71417	0.521000	0.27850	0.477000	0.33069	6.137000	0.71710	1.028000	0.39785	0.482000	0.46254	AAA		0.458	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		44	242	44	242	---	---	---	---
GPR111	222611	broad.mit.edu	37	6	47650245	47650245	+	Silent	SNP	G	G	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr6:47650245G>A	ENST00000296862.1	+	6	1950	c.1950G>A	c.(1948-1950)aaG>aaA	p.K650K	GPR111_ENST00000398742.2_Silent_p.K582K|GPR111_ENST00000507065.1_Silent_p.K582K			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	650					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GAATCAGCAAGAACATCGCCA	0.507																																						ENST00000398742.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(1744-1746)aaG>aaA		G protein-coupled receptor 111							64.0	67.0	66.0					6																	47650245		2146	4279	6425	SO:0001819	synonymous_variant	222611				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47650245G>A	AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"""-"", ""GPCR / Class B : Orphans"""	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.1950G>A	6.37:g.47650245G>A			Somatic				GPR111_ENST00000507065.1_Silent_p.K582K|GPR111_ENST00000296862.1_Silent_p.K650K	p.K582K			WXS	Illumina GAIIx	Phase_I	Q8IZF7	GP111_HUMAN			5	1795	+			650					Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Silent	SNP	ENST00000296862.1	37	c.1746G>A																																																																																					0.507	GPR111-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000106423.2	NM_153839		7	104	7	104	---	---	---	---
DDX43	55510	broad.mit.edu	37	6	74107454	74107454	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr6:74107454A>C	ENST00000370336.4	+	2	451	c.293A>C	c.(292-294)aAc>aCc	p.N98T	OOEP_ENST00000370363.1_5'Flank|DDX43_ENST00000539829.1_Missense_Mutation_p.N98T	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	98	KH. {ECO:0000255|PROSITE- ProRule:PRU00117}.				ATP catabolic process (GO:0006200)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						AGTACAACAAACACCACAATC	0.333																																						ENST00000370336.4																			0				NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(292-294)aAc>aCc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 43							125.0	113.0	117.0					6																	74107454		2203	4300	6503	SO:0001583	missense	55510					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr6:74107454A>C		CCDS4977.1	6q13	2014-01-21			ENSG00000080007	ENSG00000080007		"""DEAD-boxes"""	18677	protein-coding gene	gene with protein product	"""cancer/testis antigen 13"""	606286				10919659	Standard	NM_018665		Approved	HAGE, DKFZp434H2114, CT13	uc003pgw.3	Q9NXZ2	OTTHUMG00000015033	ENST00000370336.4:c.293A>C	6.37:g.74107454A>C	ENSP00000359361:p.Asn98Thr		Somatic				DDX43_ENST00000539829.1_Missense_Mutation_p.N98T	p.N98T	NM_018665.2	NP_061135.2	WXS	Illumina GAIIx	Phase_I	Q9NXZ2	DDX43_HUMAN			2	451	+			98			KH.		B4E0C8|Q6NXR1	Missense_Mutation	SNP	ENST00000370336.4	37	c.293A>C	CCDS4977.1	.	.	.	.	.	.	.	.	.	.	A	13.45	2.240169	0.39598	.	.	ENSG00000080007	ENST00000370336;ENST00000539829	T;T	0.32272	1.46;1.46	4.81	2.05	0.26809	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.246510	0.39759	N	0.001271	T	0.21307	0.0513	M	0.79475	2.455	0.28948	N	0.890561	P	0.38473	0.633	P	0.46585	0.521	T	0.12889	-1.0530	10	0.49607	T	0.09	-19.9178	3.1969	0.06636	0.6039:0.2407:0.1554:0.0	.	98	Q9NXZ2	DDX43_HUMAN	T	98	ENSP00000359361:N98T;ENSP00000441636:N98T	ENSP00000359361:N98T	N	+	2	0	DDX43	74164175	1.000000	0.71417	0.985000	0.45067	0.494000	0.33585	1.272000	0.33109	0.757000	0.33036	0.383000	0.25322	AAC		0.333	DDX43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041219.3	NM_018665		3	112	3	112	---	---	---	---
CYB5R4	51167	broad.mit.edu	37	6	84649905	84649905	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr6:84649905G>C	ENST00000369681.5	+	13	1379	c.1239G>C	c.(1237-1239)ttG>ttC	p.L413F	CYB5R4_ENST00000479164.1_3'UTR	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	413					cell development (GO:0048468)|detection of oxygen (GO:0003032)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NAD(P)H oxidase activity (GO:0016174)|NADPH-hemoprotein reductase activity (GO:0003958)|oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor (GO:0016653)	p.L413F(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		ATTATGCTTTGACTGATATAC	0.333																																					Esophageal Squamous(86;1289 1332 25971 40349 52675)	ENST00000369681.5																			1	Substitution - Missense(1)	p.L413F(1)	prostate(1)	breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(1237-1239)ttG>ttC		cytochrome b5 reductase 4							76.0	78.0	77.0					6																	84649905		2203	4300	6503	SO:0001583	missense	51167				cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity	g.chr6:84649905G>C	AF169803	CCDS5000.2	6q14.2	2012-09-19		2005-07-13	ENSG00000065615	ENSG00000065615	1.6.2.2		20147	protein-coding gene	gene with protein product		608343	"""NADPH cytochrome B5 oxidoreductase"""	NCB5OR		10611283	Standard	NM_016230		Approved	b5+b5R, dJ676J13.1	uc003pkf.3	Q7L1T6	OTTHUMG00000015118	ENST00000369681.5:c.1239G>C	6.37:g.84649905G>C	ENSP00000358695:p.Leu413Phe		Somatic				CYB5R4_ENST00000479164.1_3'UTR	p.L413F	NM_016230.3	NP_057314.2	WXS	Illumina GAIIx	Phase_I	Q7L1T6	NB5R4_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0871)	13	1379	+		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)						B1AEM2|Q5TGI9|Q9NUE4|Q9UHI9	Missense_Mutation	SNP	ENST00000369681.5	37	c.1239G>C	CCDS5000.2	.	.	.	.	.	.	.	.	.	.	G	15.48	2.847307	0.51164	.	.	ENSG00000065615	ENST00000369681	D	0.87809	-2.3	5.93	2.19	0.27852	Oxidoreductase FAD/NAD(P)-binding (1);	0.131990	0.50627	D	0.000110	D	0.88621	0.6486	M	0.70787	2.145	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87212	0.2248	10	0.54805	T	0.06	-19.672	9.2417	0.37500	0.3418:0.0:0.6582:0.0	.	413	Q7L1T6	NB5R4_HUMAN	F	413	ENSP00000358695:L413F	ENSP00000358695:L413F	L	+	3	2	CYB5R4	84706624	1.000000	0.71417	0.767000	0.31495	0.636000	0.38137	2.020000	0.41010	0.116000	0.18110	0.655000	0.94253	TTG		0.333	CYB5R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041362.4	NM_016230		31	166	31	166	---	---	---	---
PLEKHA8	84725	broad.mit.edu	37	7	30102304	30102304	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr7:30102304A>C	ENST00000449726.1	+	12	1596	c.1246A>C	c.(1246-1248)Aag>Cag	p.K416Q	PLEKHA8_ENST00000396257.2_Missense_Mutation_p.K416Q|PLEKHA8_ENST00000396259.1_Missense_Mutation_p.K416Q|PLEKHA8_ENST00000258679.7_Missense_Mutation_p.K416Q	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	416	Glycolipid transfer protein homology domain.				ER to Golgi ceramide transport (GO:0035621)|lipid transport (GO:0006869)|protein transport (GO:0015031)	membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ceramide binding (GO:0097001)|glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)|phosphatidylinositol-4-phosphate binding (GO:0070273)	p.K416Q(2)		breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						CAAATTTTTGAAGGGATTTTT	0.343																																						ENST00000449726.1																			2	Substitution - Missense(2)	p.K416Q(2)	prostate(2)	breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						c.(1246-1248)Aag>Cag		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8							70.0	73.0	72.0					7																	30102304		2203	4300	6503	SO:0001583	missense	84725				protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity	g.chr7:30102304A>C	BC053990	CCDS5424.1, CCDS56473.1, CCDS75574.1	7p21-p11.2	2013-01-10			ENSG00000106086	ENSG00000106086		"""Pleckstrin homology (PH) domain containing"""	30037	protein-coding gene	gene with protein product		608639				11001876	Standard	NM_001197027		Approved	FAPP2, MGC3358	uc003taq.3	Q96JA3	OTTHUMG00000097751	ENST00000449726.1:c.1246A>C	7.37:g.30102304A>C	ENSP00000397947:p.Lys416Gln		Somatic				PLEKHA8_ENST00000396257.2_Missense_Mutation_p.K416Q|PLEKHA8_ENST00000258679.7_Missense_Mutation_p.K416Q|PLEKHA8_ENST00000396259.1_Missense_Mutation_p.K416Q	p.K416Q	NM_001197027.1	NP_001183956.1	WXS	Illumina GAIIx	Phase_I	Q96JA3	PKHA8_HUMAN			12	1596	+			416					B4DH00|Q7Z5V8|Q9BU78|Q9H274|Q9H8Z7	Missense_Mutation	SNP	ENST00000449726.1	37	c.1246A>C	CCDS56473.1	.	.	.	.	.	.	.	.	.	.	A	15.19	2.760970	0.49468	.	.	ENSG00000106086	ENST00000258679;ENST00000449726;ENST00000396257;ENST00000396259;ENST00000440706	.	.	.	5.15	5.15	0.70609	Glycolipid transfer protein domain (3);	0.222920	0.44902	D	0.000419	T	0.47838	0.1467	N	0.11154	0.105	0.45747	D	0.99864	D;D;D;D	0.76494	0.958;0.984;0.999;0.987	P;P;D;P	0.80764	0.663;0.773;0.994;0.856	T	0.42916	-0.9423	9	0.13853	T	0.58	-16.9095	9.2608	0.37612	0.8389:0.0:0.0:0.1611	.	416;416;416;416	Q96JA3-2;Q96JA3;Q96JA3-3;B4DH00	.;PKHA8_HUMAN;.;.	Q	416;416;416;416;442	.	ENSP00000258679:K416Q	K	+	1	0	PLEKHA8	30068829	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.405000	0.66351	1.941000	0.56285	0.533000	0.62120	AAG		0.343	PLEKHA8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032639		17	139	17	139	---	---	---	---
PDE1C	5137	broad.mit.edu	37	7	31862740	31862740	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr7:31862740C>G	ENST00000396191.1	-	14	1984	c.1529G>C	c.(1528-1530)tGg>tCg	p.W510S	PDE1C_ENST00000396193.1_Missense_Mutation_p.W570S|PDE1C_ENST00000396182.2_Missense_Mutation_p.W510S|PDE1C_ENST00000321453.7_Missense_Mutation_p.W510S|PDE1C_ENST00000396184.3_Missense_Mutation_p.W510S|PDE1C_ENST00000479980.1_5'Flank	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	510	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.W510S(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	CACTTCCGTCCAAGTAGCTTT	0.488																																						ENST00000396184.3																			2	Substitution - Missense(2)	p.W510S(2)	prostate(2)	NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81						c.(1528-1530)tGg>tCg		phosphodiesterase 1C, calmodulin-dependent 70kDa							183.0	158.0	167.0					7																	31862740		2203	4300	6503	SO:0001583	missense	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31862740C>G	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.1529G>C	7.37:g.31862740C>G	ENSP00000379494:p.Trp510Ser		Somatic				PDE1C_ENST00000321453.7_Missense_Mutation_p.W510S|PDE1C_ENST00000396182.2_Missense_Mutation_p.W510S|PDE1C_ENST00000396191.1_Missense_Mutation_p.W510S|PDE1C_ENST00000396193.1_Missense_Mutation_p.W570S	p.W510S	NM_005020.2	NP_005011.1	WXS	Illumina GAIIx	Phase_I	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		15	1733	-			510			Catalytic (By similarity).		B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396191.1	37	c.1529G>C	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.102338	0.76983	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	T;T;T;T;T	0.77750	-1.12;-1.09;-1.09;-1.0;-1.0	5.79	5.79	0.91817	.	0.510893	0.23033	N	0.052703	D	0.83995	0.5375	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	0.996;0.992;1.0	D;P;D	0.87578	0.949;0.889;0.998	D	0.84741	0.0751	10	0.66056	D	0.02	.	19.6158	0.95633	0.0:1.0:0.0:0.0	.	510;570;510	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	S	570;510;510;510;510	ENSP00000379496:W570S;ENSP00000379494:W510S;ENSP00000318105:W510S;ENSP00000379487:W510S;ENSP00000379485:W510S	ENSP00000318105:W510S	W	-	2	0	PDE1C	31829265	1.000000	0.71417	1.000000	0.80357	0.615000	0.37417	7.169000	0.77578	2.739000	0.93911	0.563000	0.77884	TGG		0.488	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			31	286	31	286	---	---	---	---
SEPT14	346288	broad.mit.edu	37	7	55874871	55874871	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr7:55874871T>C	ENST00000388975.3	-	8	1014	c.898A>G	c.(898-900)Acc>Gcc	p.T300A		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	300	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGAGTGTGGGTTTTTTCTTTT	0.353																																						ENST00000388975.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23						c.(898-900)Acc>Gcc		septin 14							111.0	105.0	107.0					7																	55874871		2203	4300	6503	SO:0001583	missense	346288				cell cycle|cell division	septin complex	GTP binding|protein binding	g.chr7:55874871T>C	AK126048	CCDS5519.2	7p11.2	2013-01-21			ENSG00000154997	ENSG00000154997		"""Septins"""	33280	protein-coding gene	gene with protein product		612140					Standard	NM_207366		Approved	FLJ44060	uc003tqz.2	Q6ZU15	OTTHUMG00000129341	ENST00000388975.3:c.898A>G	7.37:g.55874871T>C	ENSP00000373627:p.Thr300Ala		Somatic					p.T300A	NM_207366.2	NP_997249.2	WXS	Illumina GAIIx	Phase_I	Q6ZU15	SEP14_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		8	1014	-	Breast(14;0.214)		300					A6NCC2|B4DXD6	Missense_Mutation	SNP	ENST00000388975.3	37	c.898A>G	CCDS5519.2	.	.	.	.	.	.	.	.	.	.	T	17.69	3.451791	0.63290	.	.	ENSG00000154997	ENST00000388975	T	0.64618	-0.11	3.24	3.24	0.37175	.	0.000000	0.64402	D	0.000001	D	0.85656	0.5747	H	0.98883	4.36	0.44289	D	0.997152	D	0.89917	1.0	D	0.91635	0.999	D	0.88879	0.3338	10	0.87932	D	0	.	10.1685	0.42895	0.0:0.0:0.0:1.0	.	300	Q6ZU15	SEP14_HUMAN	A	300	ENSP00000373627:T300A	ENSP00000373627:T300A	T	-	1	0	SEPT14	55842365	1.000000	0.71417	0.033000	0.17914	0.858000	0.48976	6.131000	0.71670	1.720000	0.51447	0.455000	0.32223	ACC		0.353	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251489.2	NM_207366		5	194	5	194	---	---	---	---
KIAA1324L	222223	broad.mit.edu	37	7	86539226	86539226	+	Missense_Mutation	SNP	C	C	T	rs139786503	byFrequency	TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr7:86539226C>T	ENST00000450689.2	-	16	2446	c.2261G>A	c.(2260-2262)gGg>gAg	p.G754E	KIAA1324L_ENST00000444627.1_Missense_Mutation_p.G683E|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.G514E|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.G587E	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	754						integral component of membrane (GO:0016021)		p.G514E(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TACAAATGCCCCTACCAAATT	0.398																																						ENST00000450689.2																			1	Substitution - Missense(1)	p.G514E(1)	prostate(1)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						c.(2260-2262)gGg>gAg		KIAA1324-like							116.0	115.0	115.0					7																	86539226		2203	4300	6503	SO:0001583	missense	222223					integral to membrane		g.chr7:86539226C>T	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"""EIG121-like"""	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.2261G>A	7.37:g.86539226C>T	ENSP00000413445:p.Gly754Glu		Somatic				KIAA1324L_ENST00000297222.6_Missense_Mutation_p.G514E|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.G683E|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.G587E	p.G754E	NM_001142749.2	NP_001136221.1	WXS	Illumina GAIIx	Phase_I	A8MWY0	K132L_HUMAN			16	2446	-	Esophageal squamous(14;0.0058)		754					A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	37	c.2261G>A	CCDS47632.1	.	.	.	.	.	.	.	.	.	.	C	9.362	1.068308	0.20067	.	.	ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314	T;T;T;T	0.04275	3.66;3.66;3.66;3.66	5.87	5.87	0.94306	Mannose-6-phosphate receptor, binding (1);	0.152626	0.64402	D	0.000009	T	0.03520	0.0101	N	0.13043	0.29	0.50467	D	0.999871	B;B;B	0.13594	0.008;0.002;0.002	B;B;B	0.11329	0.006;0.003;0.002	T	0.54009	-0.8357	10	0.19147	T	0.46	.	12.5072	0.55987	0.0:0.9245:0.0:0.0755	.	754;514;587	A8MWY0;A8MWY0-2;B4DJV3	K132L_HUMAN;.;.	E	754;514;683;587	ENSP00000413445:G754E;ENSP00000297222:G514E;ENSP00000397377:G683E;ENSP00000402390:G587E	ENSP00000297222:G514E	G	-	2	0	KIAA1324L	86377162	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.667000	0.54547	2.785000	0.95823	0.655000	0.94253	GGG		0.398	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748		21	121	21	121	---	---	---	---
FSCN3	29999	broad.mit.edu	37	7	127235734	127235734	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr7:127235734C>G	ENST00000265825.5	+	2	737	c.518C>G	c.(517-519)cCc>cGc	p.P173R	GCC1_ENST00000497650.1_5'Flank|FSCN3_ENST00000420086.2_Missense_Mutation_p.P39R	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	173						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.P173R(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						GCAGCAGTTCCCTGCCTGGAG	0.602																																						ENST00000265825.5																			1	Substitution - Missense(1)	p.P173R(1)	prostate(1)	endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(517-519)cCc>cGc		fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)							160.0	128.0	139.0					7																	127235734		2203	4300	6503	SO:0001583	missense	29999					actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	g.chr7:127235734C>G		CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"""Fascins"""	3961	protein-coding gene	gene with protein product		615800	"""fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)"", ""fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"""			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.518C>G	7.37:g.127235734C>G	ENSP00000265825:p.Pro173Arg		Somatic				FSCN3_ENST00000420086.2_Missense_Mutation_p.P39R	p.P173R	NM_020369.2	NP_065102.1	WXS	Illumina GAIIx	Phase_I	Q9NQT6	FSCN3_HUMAN			2	737	+			173					A4D0Z2|A6NLL7|B2RA62|B4DU68	Missense_Mutation	SNP	ENST00000265825.5	37	c.518C>G	CCDS34746.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.044120	0.75732	.	.	ENSG00000106328	ENST00000265825;ENST00000420086	T;T	0.66638	0.37;-0.22	5.58	5.58	0.84498	Actin cross-linking (1);	0.000000	0.64402	D	0.000008	T	0.80909	0.4714	M	0.69823	2.125	0.51482	D	0.999926	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.992	T	0.82194	-0.0578	10	0.87932	D	0	-21.7692	15.4359	0.75146	0.0:1.0:0.0:0.0	.	39;173	B4DU68;Q9NQT6	.;FSCN3_HUMAN	R	173;39	ENSP00000265825:P173R;ENSP00000412243:P39R	ENSP00000265825:P173R	P	+	2	0	FSCN3	127022970	1.000000	0.71417	0.993000	0.49108	0.894000	0.52154	4.777000	0.62361	2.788000	0.95919	0.650000	0.86243	CCC		0.602	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059256.2	NM_020369		24	128	24	128	---	---	---	---
KAT6A	7994	broad.mit.edu	37	8	41845068	41845068	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr8:41845068G>A	ENST00000396930.3	-	4	1157	c.614C>T	c.(613-615)cCa>cTa	p.P205L	KAT6A_ENST00000265713.2_Missense_Mutation_p.P205L|KAT6A_ENST00000485568.1_Missense_Mutation_p.P205L|KAT6A_ENST00000406337.1_Missense_Mutation_p.P205L	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	205	Interaction with PML.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GATGGGGATTGGTTCAGCAAC	0.378																																						ENST00000396930.3																			0											c.(613-615)cCa>cTa		K(lysine) acetyltransferase 6A							212.0	233.0	226.0					8																	41845068		2203	4300	6503	SO:0001583	missense	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41845068G>A	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.614C>T	8.37:g.41845068G>A	ENSP00000380136:p.Pro205Leu		Somatic				KAT6A_ENST00000265713.2_Missense_Mutation_p.P205L|KAT6A_ENST00000406337.1_Missense_Mutation_p.P205L|KAT6A_ENST00000485568.1_Missense_Mutation_p.P205L	p.P205L	NM_001099412.1	NP_001092882.1	WXS	Illumina GAIIx	Phase_I	Q92794	MYST3_HUMAN			4	1157	-			205					Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	c.614C>T	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.969316	0.53614	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000485568	D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000013	D	0.93314	0.7869	M	0.73430	2.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.93795	0.7096	10	0.87932	D	0	-15.6931	17.6767	0.88232	0.0:0.0:1.0:0.0	.	205;205	A5PLL3;Q92794	.;KAT6A_HUMAN	L	205	ENSP00000265713:P205L;ENSP00000385888:P205L;ENSP00000380136:P205L;ENSP00000430606:P205L	ENSP00000265713:P205L	P	-	2	0	KAT6A	41964225	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.414000	0.97362	2.598000	0.87819	0.591000	0.81541	CCA		0.378	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		13	549	13	549	---	---	---	---
RIPK2	8767	broad.mit.edu	37	8	90802606	90802606	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr8:90802606T>C	ENST00000220751.4	+	11	1899	c.1585T>C	c.(1585-1587)Tca>Cca	p.S529P	RIPK2_ENST00000540020.1_Missense_Mutation_p.S392P	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	529					activation of MAPK activity (GO:0000187)|adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|defense response to Gram-positive bacterium (GO:0050830)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immature T cell proliferation (GO:0033091)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|response to exogenous dsRNA (GO:0043330)|response to interleukin-1 (GO:0070555)|response to interleukin-12 (GO:0070671)|response to interleukin-18 (GO:0070673)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|LIM domain binding (GO:0030274)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			GGTTTCTAGATCACCATCTTT	0.313																																						ENST00000220751.4																			0				kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10						c.(1585-1587)Tca>Cca		receptor-interacting serine-threonine kinase 2							54.0	55.0	55.0					8																	90802606		2203	4300	6503	SO:0001583	missense	8767				activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity	g.chr8:90802606T>C	AC004003	CCDS6247.1	8q21	2008-05-02			ENSG00000104312	ENSG00000104312			10020	protein-coding gene	gene with protein product		603455				9575181, 9705938	Standard	XM_005251092		Approved	RICK, RIP2, CARDIAK, CARD3	uc003yee.3	O43353	OTTHUMG00000163809	ENST00000220751.4:c.1585T>C	8.37:g.90802606T>C	ENSP00000220751:p.Ser529Pro		Somatic				RIPK2_ENST00000540020.1_Missense_Mutation_p.S392P	p.S529P	NM_003821.5	NP_003812.1	WXS	Illumina GAIIx	Phase_I	O43353	RIPK2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0474)		11	1899	+			529					B7Z748|Q6UWF0	Missense_Mutation	SNP	ENST00000220751.4	37	c.1585T>C	CCDS6247.1	.	.	.	.	.	.	.	.	.	.	T	8.144	0.785975	0.16189	.	.	ENSG00000104312	ENST00000220751;ENST00000540020	T;T	0.80824	-1.2;-1.42	5.69	-7.66	0.01277	.	1.227400	0.06135	N	0.671421	T	0.55529	0.1926	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36986	-0.9725	10	0.30854	T	0.27	1.8954	1.2319	0.01945	0.3887:0.2819:0.1774:0.1521	.	529	O43353	RIPK2_HUMAN	P	529;392	ENSP00000220751:S529P;ENSP00000441623:S392P	ENSP00000220751:S529P	S	+	1	0	RIPK2	90871747	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-1.074000	0.03427	-0.772000	0.04602	-0.353000	0.07706	TCA		0.313	RIPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375686.1			7	111	7	111	---	---	---	---
RUNX1T1	862	broad.mit.edu	37	8	93017401	93017401	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr8:93017401T>C	ENST00000523629.1	-	6	1137	c.683A>G	c.(682-684)gAc>gGc	p.D228G	RUNX1T1_ENST00000422361.2_Missense_Mutation_p.D191G|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.D228G|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.D239G|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.D191G|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.D191G|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.D191G|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.D201G|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.D201G	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	228					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CTCTGAGGAGTCAACAGGTGA	0.572																																						ENST00000523629.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86						c.(682-684)gAc>gGc		runt-related transcription factor 1; translocated to, 1 (cyclin D-related)							189.0	157.0	168.0					8																	93017401		2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:93017401T>C	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.683A>G	8.37:g.93017401T>C	ENSP00000428543:p.Asp228Gly		Somatic				RUNX1T1_ENST00000265814.3_Missense_Mutation_p.D228G|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.D191G|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.D201G|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.D191G|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.D239G|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.D201G|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.D191G|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.D191G	p.D228G	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	WXS	Illumina GAIIx	Phase_I	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		6	1137	-			228					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.683A>G	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	T	29.0	4.971695	0.92919	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844;ENST00000521553;ENST00000518992	T;T;T;T;T;T;T;T;T;T	0.63255	0.93;0.92;0.93;0.95;0.95;0.95;0.91;0.92;0.42;-0.03	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.79857	0.4518	M	0.78637	2.42	0.80722	D	1	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.91635	0.98;0.965;0.999	T	0.82617	-0.0369	10	0.87932	D	0	-23.5869	15.8933	0.79318	0.0:0.0:0.0:1.0	.	239;228;201	E7EPN4;Q06455;Q06455-2	.;MTG8_HUMAN;.	G	228;201;228;191;191;191;239;201;191;228	ENSP00000428543:D228G;ENSP00000379520:D201G;ENSP00000265814:D228G;ENSP00000353504:D191G;ENSP00000390137:D191G;ENSP00000428742:D191G;ENSP00000402257:D239G;ENSP00000430728:D201G;ENSP00000429728:D191G;ENSP00000431094:D228G	ENSP00000265814:D228G	D	-	2	0	RUNX1T1	93086577	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.289000	0.72696	2.158000	0.67659	0.533000	0.62120	GAC		0.572	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		12	268	12	268	---	---	---	---
SNX31	169166	broad.mit.edu	37	8	101589258	101589258	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr8:101589258G>A	ENST00000311812.2	-	13	1366	c.1216C>T	c.(1216-1218)Caa>Taa	p.Q406*	SNX31_ENST00000428383.2_Nonsense_Mutation_p.Q307*	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	406					protein transport (GO:0015031)	protein complex (GO:0043234)	phosphatidylinositol binding (GO:0035091)	p.Q406*(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			TGGCTTTGTTGAATGTGGTAT	0.343																																						ENST00000311812.2																			1	Substitution - Nonsense(1)	p.Q406*(1)	prostate(1)	NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26						c.(1216-1218)Caa>Taa		sorting nexin 31							239.0	230.0	233.0					8																	101589258		2203	4300	6503	SO:0001587	stop_gained	169166				cell communication|protein transport		phosphatidylinositol binding	g.chr8:101589258G>A		CCDS6288.1	8q22.3	2011-05-03			ENSG00000174226	ENSG00000174226		"""Sorting nexins"""	28605	protein-coding gene	gene with protein product						16782399	Standard	NM_152628		Approved	MGC39715	uc003yjr.3	Q8N9S9	OTTHUMG00000164725	ENST00000311812.2:c.1216C>T	8.37:g.101589258G>A	ENSP00000312368:p.Gln406*		Somatic				SNX31_ENST00000428383.2_Nonsense_Mutation_p.Q307*	p.Q406*	NM_152628.3	NP_689841.3	WXS	Illumina GAIIx	Phase_I	Q8N9S9	SNX31_HUMAN	Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)		13	1366	-	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		406					C9J6L9|Q8N0U9	Nonsense_Mutation	SNP	ENST00000311812.2	37	c.1216C>T	CCDS6288.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.695200	0.68386	.	.	ENSG00000174226	ENST00000311812;ENST00000428383	.	.	.	5.87	4.99	0.66335	.	1.094710	0.06927	N	0.810409	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	4.9795	13.4033	0.60896	0.0:0.1573:0.8427:0.0	.	.	.	.	X	406;307	.	ENSP00000312368:Q406X	Q	-	1	0	SNX31	101658434	0.122000	0.22280	0.021000	0.16686	0.412000	0.31113	2.253000	0.43205	1.604000	0.50143	0.655000	0.94253	CAA		0.343	SNX31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379910.1	NM_152628		52	334	52	334	---	---	---	---
GLI4	2738	broad.mit.edu	37	8	144358723	144358723	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr8:144358723C>A	ENST00000523522.1	+	3	919	c.880C>A	c.(880-882)Ccc>Acc	p.P294T	GLI4_ENST00000340042.1_Missense_Mutation_p.P294T|GLI4_ENST00000523812.1_3'UTR			P10075	GLI4_HUMAN	GLI family zinc finger 4	294					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(1)|lung(5)	9	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GGGTGAGAAGCCCTACGCCTG	0.657																																						ENST00000340042.1																			0				endometrium(3)|large_intestine(1)|lung(5)	9						c.(880-882)Ccc>Acc		GLI family zinc finger 4							24.0	25.0	25.0					8																	144358723		2202	4298	6500	SO:0001583	missense	2738					nucleus	DNA binding|zinc ion binding	g.chr8:144358723C>A		CCDS6398.1	8q24.3	2013-01-08	2009-03-05		ENSG00000250571	ENSG00000250571		"""Zinc fingers, C2H2-type"""	4320	protein-coding gene	gene with protein product		165280	"""GLI-Kruppel family member GLI4"", ""glioma-associated oncogene family zinc finger 4"""			2850480	Standard	NM_138465		Approved	HKR4, ZNF928	uc003yxx.3	P10075	OTTHUMG00000164952	ENST00000523522.1:c.880C>A	8.37:g.144358723C>A	ENSP00000430987:p.Pro294Thr		Somatic				GLI4_ENST00000523812.1_3'UTR|GLI4_ENST00000523522.1_Missense_Mutation_p.P294T	p.P294T	NM_138465.3	NP_612474.1	WXS	Illumina GAIIx	Phase_I	P10075	GLI4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		4	965	+	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		294					Q96CK9	Missense_Mutation	SNP	ENST00000523522.1	37	c.880C>A	CCDS6398.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.672093	0.67928	.	.	ENSG00000250571	ENST00000340042;ENST00000523522	T;T	0.16897	2.31;2.31	4.0	4.0	0.46444	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42245	0.1194	M	0.74258	2.255	0.29430	N	0.859922	D	0.89917	1.0	D	0.91635	0.999	T	0.32188	-0.9916	9	0.87932	D	0	.	13.65	0.62306	0.0:1.0:0.0:0.0	.	294	P10075	GLI4_HUMAN	T	294	ENSP00000345024:P294T;ENSP00000430987:P294T	ENSP00000345024:P294T	P	+	1	0	GLI4	144430098	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	4.182000	0.58310	2.041000	0.60428	0.563000	0.77884	CCC		0.657	GLI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381128.2			3	21	3	21	---	---	---	---
FREM1	158326	broad.mit.edu	37	9	14823308	14823308	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr9:14823308C>A	ENST00000380880.3	-	13	2970	c.2187G>T	c.(2185-2187)atG>atT	p.M729I	FREM1_ENST00000380881.4_Missense_Mutation_p.M730I|FREM1_ENST00000422223.2_Missense_Mutation_p.M729I			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	729					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.M729I(1)|p.M730I(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGGCCACTTTCATATAGTTCA	0.453																																						ENST00000380881.4																			2	Substitution - Missense(2)	p.M729I(1)|p.M730I(1)	prostate(2)	breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(2188-2190)atG>atT		FRAS1 related extracellular matrix 1							188.0	183.0	185.0					9																	14823308		1967	4158	6125	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14823308C>A	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.2187G>T	9.37:g.14823308C>A	ENSP00000370262:p.Met729Ile		Somatic				FREM1_ENST00000380880.3_Missense_Mutation_p.M729I|FREM1_ENST00000422223.2_Missense_Mutation_p.M729I	p.M730I			WXS	Illumina GAIIx	Phase_I	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	14	3005	-			729					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.2190G>T	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.439999	0.43326	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.16597	2.33;2.33;2.33	5.21	5.21	0.72293	.	0.287022	0.47852	D	0.000208	T	0.20455	0.0492	M	0.72118	2.19	0.41875	D	0.990292	B	0.31174	0.311	B	0.28784	0.094	T	0.03060	-1.1077	10	0.20519	T	0.43	-7.0089	14.6992	0.69145	0.0:0.8551:0.1449:0.0	.	729	Q5H8C1	FREM1_HUMAN	I	730;729;729	ENSP00000370263:M730I;ENSP00000412940:M729I;ENSP00000370262:M729I	ENSP00000370257:M732I	M	-	3	0	FREM1	14813308	1.000000	0.71417	0.993000	0.49108	0.950000	0.60333	5.656000	0.67988	2.591000	0.87537	0.462000	0.41574	ATG		0.453	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		74	350	74	350	---	---	---	---
TMC1	117531	broad.mit.edu	37	9	75357381	75357381	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr9:75357381G>A	ENST00000297784.5	+	10	1015	c.475G>A	c.(475-477)Gat>Aat	p.D159N	TMC1_ENST00000396237.3_Missense_Mutation_p.D159N|TMC1_ENST00000340019.3_Missense_Mutation_p.D159N	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	159	Arg/Asp/Glu/Lys-rich (highly charged).				auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)	p.D159N(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						ATTCCTCCGTGATTTTGAGAA	0.378																																					Pancreas(75;173 1345 14232 34245 43413)	ENST00000297784.5																			1	Substitution - Missense(1)	p.D159N(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(475-477)Gat>Aat		transmembrane channel-like 1							89.0	83.0	85.0					9																	75357381		2203	4300	6503	SO:0001583	missense	117531				sensory perception of sound	integral to membrane		g.chr9:75357381G>A	AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"""transmembrane, cochlear expressed, 1"""	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.475G>A	9.37:g.75357381G>A	ENSP00000297784:p.Asp159Asn		Somatic				TMC1_ENST00000340019.3_Missense_Mutation_p.D159N|TMC1_ENST00000396237.3_Missense_Mutation_p.D159N	p.D159N	NM_138691.2	NP_619636.2	WXS	Illumina GAIIx	Phase_I	Q8TDI8	TMC1_HUMAN			10	1015	+			159			Arg/Asp/Glu/Lys-rich (highly charged).		A8MVZ2|B1AM91	Missense_Mutation	SNP	ENST00000297784.5	37	c.475G>A	CCDS6643.1	.	.	.	.	.	.	.	.	.	.	G	35	5.418618	0.96092	.	.	ENSG00000165091	ENST00000297784;ENST00000340019;ENST00000396235;ENST00000537917;ENST00000538054;ENST00000542143;ENST00000396237	T;T;T	0.14640	2.49;2.49;2.49	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.35770	0.0943	M	0.67700	2.07	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.991;0.991;0.993	T	0.01639	-1.1306	10	0.18710	T	0.47	-31.5326	18.8421	0.92188	0.0:0.0:1.0:0.0	.	126;126;159	A5D8Y1;A4FUA6;Q8TDI8	.;.;TMC1_HUMAN	N	159;159;126;126;126;153;159	ENSP00000297784:D159N;ENSP00000341433:D159N;ENSP00000379538:D159N	ENSP00000297784:D159N	D	+	1	0	TMC1	74547201	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.892000	0.92491	2.744000	0.94065	0.655000	0.94253	GAT		0.378	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1			16	87	16	87	---	---	---	---
FGD3	89846	broad.mit.edu	37	9	95784668	95784668	+	Silent	SNP	A	A	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr9:95784668A>C	ENST00000375482.3	+	14	2050	c.1554A>C	c.(1552-1554)gcA>gcC	p.A518A	FGD3_ENST00000538555.1_Silent_p.A121A|FGD3_ENST00000337352.6_Silent_p.A518A|FGD3_ENST00000416701.2_Silent_p.A518A	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	518					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.A518A(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						CGGGTGCAGCAGGGGTAAGTG	0.612																																						ENST00000375482.3																			2	Substitution - coding silent(2)	p.A518A(2)	prostate(2)	breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						c.(1552-1554)gcA>gcC		FYVE, RhoGEF and PH domain containing 3							47.0	49.0	49.0					9																	95784668		2018	4168	6186	SO:0001819	synonymous_variant	89846				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr9:95784668A>C	AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16027	protein-coding gene	gene with protein product			"""FGD1 family, member 3"""			11214971	Standard	NM_001083536		Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.1554A>C	9.37:g.95784668A>C			Somatic				FGD3_ENST00000538555.1_Silent_p.A121A|FGD3_ENST00000416701.2_Silent_p.A518A|FGD3_ENST00000337352.6_Silent_p.A518A	p.A518A	NM_001083536.1	NP_001077005.1	WXS	Illumina GAIIx	Phase_I	Q5JSP0	FGD3_HUMAN			14	2050	+			518					F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Silent	SNP	ENST00000375482.3	37	c.1554A>C	CCDS43849.1																																																																																				0.612	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055493.1	NM_033086		13	103	13	103	---	---	---	---
DDIT4	54541	broad.mit.edu	37	10	74034535	74034535	+	Silent	SNP	G	G	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr10:74034535G>A	ENST00000307365.3	+	3	489	c.288G>A	c.(286-288)ctG>ctA	p.L96L	RP11-442H21.2_ENST00000491934.2_RNA	NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN	DNA-damage-inducible transcript 4	96					brain development (GO:0007420)|cell proliferation (GO:0008283)|defense response to virus (GO:0051607)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of glycolytic process (GO:0045820)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of TOR signaling (GO:0032007)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron death (GO:1901216)|protein complex disassembly (GO:0043241)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|mitochondrion (GO:0005739)		p.L96L(1)		cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						GTGCCAACCTGATGCAGCTGC	0.627											OREG0020262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000307365.3																			1	Substitution - coding silent(1)	p.L96L(1)	prostate(1)	cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						c.(286-288)ctG>ctA		DNA-damage-inducible transcript 4							107.0	110.0	109.0					10																	74034535		2203	4300	6503	SO:0001819	synonymous_variant	54541				apoptosis			g.chr10:74034535G>A	AK000507	CCDS7315.1	10q22.1	2008-05-14			ENSG00000168209	ENSG00000168209			24944	protein-coding gene	gene with protein product	"""HIF-1 responsive RTP801"""	607729				11884613	Standard	NM_019058		Approved	RTP801, FLJ20500, REDD-1, REDD1, Dig2	uc001jsx.1	Q9NX09	OTTHUMG00000018435	ENST00000307365.3:c.288G>A	10.37:g.74034535G>A			Somatic	OREG0020262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1149		p.L96L	NM_019058.2	NP_061931.1	WXS	Illumina GAIIx	Phase_I	Q9NX09	DDIT4_HUMAN			3	489	+			96					Q9H0S3	Silent	SNP	ENST00000307365.3	37	c.288G>A	CCDS7315.1																																																																																				0.627	DDIT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048577.1	NM_019058		37	371	37	371	---	---	---	---
USP54	159195	broad.mit.edu	37	10	75258743	75258743	+	Missense_Mutation	SNP	T	T	C	rs370633842		TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr10:75258743T>C	ENST00000339859.4	-	23	4799	c.4699A>G	c.(4699-4701)Acc>Gcc	p.T1567A	RP11-137L10.6_ENST00000600206.1_RNA|RP11-137L10.6_ENST00000422977.1_RNA|USP54_ENST00000394811.2_Missense_Mutation_p.T608A|RP11-137L10.6_ENST00000596320.1_RNA|RP11-137L10.6_ENST00000442133.4_RNA|RP11-137L10.6_ENST00000600607.1_RNA|PPP3CB_ENST00000360663.5_5'Flank|PPP3CB_ENST00000394828.2_5'Flank|USP54_ENST00000428547.1_Missense_Mutation_p.T1417A|RP11-137L10.6_ENST00000595935.1_RNA|RP11-137L10.6_ENST00000593790.1_RNA|PPP3CB_ENST00000342558.3_5'Flank|RP11-137L10.6_ENST00000600887.1_RNA|RP11-137L10.6_ENST00000597958.1_RNA|RP11-137L10.6_ENST00000595069.1_RNA|USP54_ENST00000408019.1_Missense_Mutation_p.T1567A|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000422491.2_Missense_Mutation_p.T702A|PPP3CB_ENST00000394829.2_5'Flank|PPP3CB_ENST00000394822.2_5'Flank			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1567					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GCAGTGTAGGTTAGTTGAGGA	0.532																																					Colon(195;880 2046 8854 25025 38456)	ENST00000339859.4																			0				breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30						c.(4699-4701)Acc>Gcc		ubiquitin specific peptidase 54							250.0	221.0	231.0					10																	75258743		2203	4300	6503	SO:0001583	missense	159195				ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	g.chr10:75258743T>C	AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.4699A>G	10.37:g.75258743T>C	ENSP00000345216:p.Thr1567Ala		Somatic				RP11-137L10.6_ENST00000600887.1_RNA|RP11-137L10.6_ENST00000595935.1_RNA|USP54_ENST00000394811.2_Missense_Mutation_p.T608A|USP54_ENST00000428547.1_Missense_Mutation_p.T1417A|RP11-137L10.6_ENST00000600607.1_RNA|RP11-137L10.6_ENST00000595069.1_RNA|RP11-137L10.6_ENST00000600206.1_RNA|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000422491.2_Missense_Mutation_p.T702A|RP11-137L10.6_ENST00000596320.1_RNA|RP11-137L10.6_ENST00000593790.1_RNA|USP54_ENST00000408019.1_Missense_Mutation_p.T1567A|RP11-137L10.6_ENST00000597958.1_RNA|RP11-137L10.6_ENST00000442133.4_RNA	p.T1567A			WXS	Illumina GAIIx	Phase_I	Q70EL1	UBP54_HUMAN			23	4799	-	Prostate(51;0.0112)		1567					A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Missense_Mutation	SNP	ENST00000339859.4	37	c.4699A>G	CCDS7329.2	.	.	.	.	.	.	.	.	.	.	T	14.06	2.422609	0.43020	.	.	ENSG00000166348	ENST00000339859;ENST00000408019;ENST00000428547;ENST00000394811;ENST00000422491	T;T;T;T;T	0.25912	1.93;1.93;1.92;1.77;1.78	4.84	4.84	0.62591	.	.	.	.	.	T	0.24624	0.0597	L	0.44542	1.39	0.80722	D	1	B;B	0.28291	0.206;0.043	B;B	0.28305	0.088;0.016	T	0.04090	-1.0978	9	0.44086	T	0.13	-0.8867	14.5737	0.68229	0.0:0.0:0.0:1.0	.	702;1567	E7EW90;Q70EL1	.;UBP54_HUMAN	A	1567;1567;1417;608;702	ENSP00000345216:T1567A;ENSP00000386080:T1567A;ENSP00000408714:T1417A;ENSP00000378290:T608A;ENSP00000407368:T702A	ENSP00000345216:T1567A	T	-	1	0	USP54	74928749	0.999000	0.42202	0.995000	0.50966	0.904000	0.53231	5.268000	0.65536	2.029000	0.59856	0.443000	0.29094	ACC		0.532	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	NM_152586		7	419	7	419	---	---	---	---
C10orf99	387695	broad.mit.edu	37	10	85933664	85933664	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr10:85933664C>G	ENST00000372126.3	+	1	171	c.57C>G	c.(55-57)atC>atG	p.I19M		NM_207373.2	NP_997256.1	Q6UWK7	CJ099_HUMAN	chromosome 10 open reading frame 99	19						extracellular region (GO:0005576)		p.I19M(1)|p.I19I(1)		endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						GCTTCTCCATCTTCTCCACAG	0.547																																						ENST00000372126.3																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.I19M(1)|p.I19I(1)	prostate(1)|pancreas(1)	endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						c.(55-57)atC>atG		chromosome 10 open reading frame 99							215.0	169.0	185.0					10																	85933664		2203	4300	6503	SO:0001583	missense	387695					extracellular region		g.chr10:85933664C>G	AY358751	CCDS7371.1	10q23.2	2014-04-16			ENSG00000188373	ENSG00000188373			31428	protein-coding gene	gene with protein product						12975309	Standard	NM_207373		Approved	UNQ1833, RLLV1833, FLJ21763	uc001kcu.3	Q6UWK7	OTTHUMG00000018635	ENST00000372126.3:c.57C>G	10.37:g.85933664C>G	ENSP00000361199:p.Ile19Met		Somatic					p.I19M	NM_207373.2	NP_997256.1	WXS	Illumina GAIIx	Phase_I	Q6UWK7	CJ099_HUMAN			1	171	+			19						Missense_Mutation	SNP	ENST00000372126.3	37	c.57C>G	CCDS7371.1	.	.	.	.	.	.	.	.	.	.	C	1.234	-0.623320	0.03636	.	.	ENSG00000188373	ENST00000372126	.	.	.	3.71	2.79	0.32731	.	.	.	.	.	T	0.29061	0.0722	.	.	.	0.09310	N	0.999998	P	0.39624	0.681	B	0.39419	0.299	T	0.16188	-1.0411	7	0.66056	D	0.02	.	6.4668	0.21985	0.0:0.8633:0.0:0.1367	.	19	Q6UWK7	CJ099_HUMAN	M	19	.	ENSP00000361199:I19M	I	+	3	3	C10orf99	85923644	0.819000	0.29175	0.328000	0.25416	0.374000	0.29953	1.809000	0.38922	1.102000	0.41551	0.650000	0.86243	ATC		0.547	C10orf99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049114.1	NM_207373		25	251	25	251	---	---	---	---
SLC18A2	6571	broad.mit.edu	37	10	119003545	119003545	+	Missense_Mutation	SNP	C	C	G	rs140529367		TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr10:119003545C>G	ENST00000298472.5	+	3	328	c.185C>G	c.(184-186)aCg>aGg	p.T62R	RP11-501J20.5_ENST00000425264.1_RNA|SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	62					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	GAAATCCAGACGGCCAGGCCA	0.493																																						ENST00000298472.5																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29						c.(184-186)aCg>aGg		solute carrier family 18 (vesicular monoamine transporter), member 2	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)						85.0	74.0	78.0					10																	119003545		2203	4300	6503	SO:0001583	missense	6571				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity	g.chr10:119003545C>G	L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"""Solute carriers"""	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.185C>G	10.37:g.119003545C>G	ENSP00000298472:p.Thr62Arg		Somatic				SLC18A2_ENST00000497497.1_3'UTR	p.T62R	NM_003054.4	NP_003045.2	WXS	Illumina GAIIx	Phase_I	Q05940	VMAT2_HUMAN		all cancers(201;0.029)	3	328	+		Colorectal(252;0.19)	62					B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Missense_Mutation	SNP	ENST00000298472.5	37	c.185C>G	CCDS7599.1	.	.	.	.	.	.	.	.	.	.	C	1.910	-0.450872	0.04572	.	.	ENSG00000165646	ENST00000298472	T	0.03801	3.8	5.82	5.82	0.92795	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.268601	0.40640	N	0.001041	T	0.04679	0.0127	N	0.17379	0.485	0.40098	D	0.976339	B	0.17465	0.022	B	0.21917	0.037	T	0.52771	-0.8531	10	0.20046	T	0.44	-28.1579	18.2891	0.90123	0.0:1.0:0.0:0.0	.	62	Q05940	VMAT2_HUMAN	R	62	ENSP00000298472:T62R	ENSP00000298472:T62R	T	+	2	0	SLC18A2	118993535	0.997000	0.39634	0.961000	0.40146	0.036000	0.12997	3.803000	0.55560	2.756000	0.94617	0.563000	0.77884	ACG		0.493	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050563.1	NM_003054		3	75	3	75	---	---	---	---
ACADSB	36	broad.mit.edu	37	10	124806813	124806813	+	Splice_Site	SNP	A	A	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr10:124806813A>G	ENST00000358776.4	+	8	1003	c.989A>G	c.(988-990)cAg>cGg	p.Q330R	ACADSB_ENST00000368869.4_Splice_Site_p.Q228R	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	330					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)|Valproic Acid(DB00313)	TTTGATTTTCAGGTATGTAAT	0.403																																						ENST00000358776.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(988-990)cAg>cGg		acyl-CoA dehydrogenase, short/branched chain	L-Isoleucine(DB00167)						79.0	87.0	84.0					10																	124806813		2203	4300	6503	SO:0001630	splice_region_variant	36				branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding	g.chr10:124806813A>G	U12778	CCDS7634.1	10q25-q26	2014-09-17	2010-04-30		ENSG00000196177	ENSG00000196177	1.3.99.-		91	protein-coding gene	gene with protein product		600301	"""acyl-Coenzyme A dehydrogenase, short/branched chain"""			7698750, 7759115	Standard	NM_001609		Approved	SBCAD, ACAD7	uc001lhb.3	P45954	OTTHUMG00000019200	ENST00000358776.4:c.990+1A>G	10.37:g.124806813A>G			Somatic				ACADSB_ENST00000368869.4_Splice_Site_p.Q228R	p.Q330R	NM_001609.3	NP_001600.1	WXS	Illumina GAIIx	Phase_I	P45954	ACDSB_HUMAN		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	8	1003	+		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)	330					B4DQ51|Q5SQN6|Q96CX7	Splice_Site	SNP	ENST00000358776.4	37	c.989A>G	CCDS7634.1	.	.	.	.	.	.	.	.	.	.	A	16.98	3.272664	0.59649	.	.	ENSG00000196177	ENST00000368869;ENST00000358776	D;D	0.97303	-4.33;-4.33	5.5	5.5	0.81552	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.99242	0.9736	H	0.99475	4.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98523	1.0624	10	0.87932	D	0	.	15.6089	0.76699	1.0:0.0:0.0:0.0	.	330	P45954	ACDSB_HUMAN	R	228;330	ENSP00000357862:Q228R;ENSP00000357873:Q330R	ENSP00000357873:Q330R	Q	+	2	0	ACADSB	124796803	1.000000	0.71417	1.000000	0.80357	0.046000	0.14306	8.716000	0.91420	2.082000	0.62665	0.528000	0.53228	CAG		0.403	ACADSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050843.1	NM_001609	Missense_Mutation	3	103	3	103	---	---	---	---
ASCL3	56676	broad.mit.edu	37	11	8959683	8959683	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr11:8959683C>G	ENST00000531618.1	-	1	75	c.26G>C	c.(25-27)aGt>aCt	p.S9T	ASCL3_ENST00000325884.1_Missense_Mutation_p.S9T			Q9NQ33	ASCL3_HUMAN	achaete-scute family bHLH transcription factor 3	8					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(1)|large_intestine(2)|lung(5)|stomach(1)	9				Epithelial(150;1.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0228)		GTCAGGTAGACTAGAGTTGCC	0.463																																						ENST00000325884.1																			0				breast(1)|large_intestine(2)|lung(5)|stomach(1)	9						c.(25-27)aGt>aCt		achaete-scute family bHLH transcription factor 3							171.0	184.0	180.0					11																	8959683		2201	4295	6496	SO:0001583	missense	56676				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleolus	DNA binding	g.chr11:8959683C>G	AJ400877	CCDS7795.1	11p15.3	2013-10-17	2013-10-17			ENSG00000176009		"""Basic helix-loop-helix proteins"""	740	protein-coding gene	gene with protein product		609154	"""achaete-scute complex (Drosophila) homolog-like 3"", ""achaete-scute complex homolog 3 (Drosophila)"""			11528127	Standard	NM_020646		Approved	bHLHa42, HASH3, Sgn1	uc001mhd.1	Q9NQ33	OTTHUMG00000165679	ENST00000531618.1:c.26G>C	11.37:g.8959683C>G	ENSP00000435770:p.Ser9Thr		Somatic				ASCL3_ENST00000531618.1_Missense_Mutation_p.S9T	p.S9T	NM_020646.1	NP_065697.1	WXS	Illumina GAIIx	Phase_I	Q9NQ33	ASCL3_HUMAN		Epithelial(150;1.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0228)	2	85	-			8					Q8WYQ6	Missense_Mutation	SNP	ENST00000531618.1	37	c.26G>C	CCDS7795.1	.	.	.	.	.	.	.	.	.	.	C	5.024	0.190026	0.09547	.	.	ENSG00000176009	ENST00000325884;ENST00000531618	D;D	0.97430	-4.38;-4.38	5.96	-0.327	0.12694	.	0.996520	0.08136	N	0.992356	D	0.91570	0.7337	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.81976	-0.0686	10	0.32370	T	0.25	-0.8977	5.3389	0.15973	0.0:0.3024:0.1413:0.5562	.	8	Q9NQ33	ASCL3_HUMAN	T	9	ENSP00000318846:S9T;ENSP00000435770:S9T	ENSP00000318846:S9T	S	-	2	0	ASCL3	8916259	0.910000	0.30920	0.000000	0.03702	0.013000	0.08279	0.558000	0.23469	-0.289000	0.09038	-0.312000	0.09012	AGT		0.463	ASCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385773.1			5	346	5	346	---	---	---	---
TTC17	55761	broad.mit.edu	37	11	43418961	43418961	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr11:43418961G>C	ENST00000039989.4	+	7	852	c.838G>C	c.(838-840)Gat>Cat	p.D280H	RP11-484D2.4_ENST00000394183.2_RNA|TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Missense_Mutation_p.D280H	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	280					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CTTCTCTGCTGATGCTGCTGT	0.438																																						ENST00000039989.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						c.(838-840)Gat>Cat		tetratricopeptide repeat domain 17							233.0	197.0	209.0					11																	43418961		2203	4300	6503	SO:0001583	missense	55761						binding	g.chr11:43418961G>C	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.838G>C	11.37:g.43418961G>C	ENSP00000039989:p.Asp280His		Somatic				TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Missense_Mutation_p.D280H	p.D280H	NM_018259.5	NP_060729.2	WXS	Illumina GAIIx	Phase_I	Q96AE7	TTC17_HUMAN			7	852	+			280					G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	37	c.838G>C	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	G	33	5.253126	0.95336	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.55413	0.52;0.52	5.92	5.92	0.95590	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.75347	0.3837	M	0.78456	2.415	0.80722	D	1	D;D;D	0.89917	1.0;0.995;1.0	D;D;D	0.80764	0.99;0.992;0.994	T	0.76085	-0.3088	10	0.66056	D	0.02	-21.3082	20.3206	0.98668	0.0:0.0:1.0:0.0	.	280;280;280	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	H	280	ENSP00000299240:D280H;ENSP00000039989:D280H	ENSP00000039989:D280H	D	+	1	0	TTC17	43375537	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.809000	0.96659	0.655000	0.94253	GAT		0.438	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		11	445	11	445	---	---	---	---
OR4S2	219431	broad.mit.edu	37	11	55418545	55418545	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr11:55418545C>G	ENST00000312422.2	+	1	166	c.166C>G	c.(166-168)Ccc>Gcc	p.P56A		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	56						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				GTTTAAGTCACCCATGTATTT	0.393																																						ENST00000312422.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(166-168)Ccc>Gcc		olfactory receptor, family 4, subfamily S, member 2							243.0	192.0	210.0					11																	55418545		2181	4046	6227	SO:0001583	missense	219431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55418545C>G	BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.166C>G	11.37:g.55418545C>G	ENSP00000310337:p.Pro56Ala		Somatic					p.P56A	NM_001004059.2	NP_001004059.2	WXS	Illumina GAIIx	Phase_I	Q8NH73	OR4S2_HUMAN			1	166	+		all_epithelial(135;0.0748)	56					Q6IF72	Missense_Mutation	SNP	ENST00000312422.2	37	c.166C>G	CCDS31505.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.077149	0.55753	.	.	ENSG00000174982	ENST00000312422	T	0.02015	4.5	5.36	5.36	0.76844	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000063	T	0.18509	0.0444	M	0.91872	3.25	0.58432	D	0.999992	D	0.89917	1.0	D	0.91635	0.999	T	0.01378	-1.1370	10	0.72032	D	0.01	.	17.6575	0.88182	0.0:1.0:0.0:0.0	.	56	Q8NH73	OR4S2_HUMAN	A	56	ENSP00000310337:P56A	ENSP00000310337:P56A	P	+	1	0	OR4S2	55175121	1.000000	0.71417	0.887000	0.34795	0.119000	0.20118	6.636000	0.74299	2.512000	0.84698	0.549000	0.68633	CCC		0.393	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059		7	488	7	488	---	---	---	---
NPAS4	266743	broad.mit.edu	37	11	66192368	66192368	+	Silent	SNP	C	C	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr11:66192368C>T	ENST00000311034.2	+	7	2183	c.2007C>T	c.(2005-2007)gaC>gaT	p.D669D		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	669					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.D669D(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						AGCCCCTGGACTCCAACCTGT	0.607																																						ENST00000311034.2																			1	Substitution - coding silent(1)	p.D669D(1)	prostate(1)	breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						c.(2005-2007)gaC>gaT		neuronal PAS domain protein 4							87.0	93.0	91.0					11																	66192368		2200	4295	6495	SO:0001819	synonymous_variant	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66192368C>T	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.2007C>T	11.37:g.66192368C>T			Somatic					p.D669D	NM_178864.3	NP_849195.2	WXS	Illumina GAIIx	Phase_I	Q8IUM7	NPAS4_HUMAN			7	2183	+			669					B7ZL81|Q8N8S5|Q8N9Q9	Silent	SNP	ENST00000311034.2	37	c.2007C>T	CCDS8138.1																																																																																				0.607	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		46	269	46	269	---	---	---	---
LRFN4	78999	broad.mit.edu	37	11	66627358	66627358	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr11:66627358A>C	ENST00000309602.4	+	2	1843	c.1600A>C	c.(1600-1602)Act>Cct	p.T534P	LRFN4_ENST00000393952.3_Intron|PC_ENST00000393960.1_Intron|PC_ENST00000393955.2_Intron|PC_ENST00000393958.2_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	534						integral component of membrane (GO:0016021)		p.T534P(1)		breast(1)|lung(1)|prostate(1)	3						ACTGGTCTTCACTGTGGCCTT	0.721																																						ENST00000309602.4																			1	Substitution - Missense(1)	p.T534P(1)	prostate(1)	breast(1)|lung(1)|prostate(1)	3						c.(1600-1602)Act>Cct		leucine rich repeat and fibronectin type III domain containing 4							36.0	29.0	31.0					11																	66627358		2190	4283	6473	SO:0001583	missense	78999					integral to membrane		g.chr11:66627358A>C	BC007718	CCDS8153.1	11q13.1	2013-02-11				ENSG00000173621		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28456	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 6"""	612810				16495444, 16828986	Standard	NM_024036		Approved	MGC3103, SALM3., FIGLER6	uc001ojr.3	Q6PJG9		ENST00000309602.4:c.1600A>C	11.37:g.66627358A>C	ENSP00000312535:p.Thr534Pro		Somatic				LRFN4_ENST00000393952.3_Intron|PC_ENST00000393958.2_Intron|PC_ENST00000393955.2_Intron|PC_ENST00000393960.1_Intron	p.T534P	NM_024036.4	NP_076941.2	WXS	Illumina GAIIx	Phase_I	Q6PJG9	LRFN4_HUMAN			2	1843	+			534					Q4VBZ3|Q59GV4|Q8N644|Q9BWJ0	Missense_Mutation	SNP	ENST00000309602.4	37	c.1600A>C	CCDS8153.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.801190	0.90538	.	.	ENSG00000173621	ENST00000309602	T	0.52057	0.68	4.79	4.79	0.61399	.	0.399801	0.18584	N	0.136948	T	0.52837	0.1759	L	0.29908	0.895	0.80722	D	1	D	0.64830	0.994	P	0.61201	0.885	T	0.54873	-0.8228	10	0.62326	D	0.03	.	12.2823	0.54771	1.0:0.0:0.0:0.0	.	534	Q6PJG9	LRFN4_HUMAN	P	534	ENSP00000312535:T534P	ENSP00000312535:T534P	T	+	1	0	LRFN4	66383934	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.353000	0.79414	1.799000	0.52666	0.379000	0.24179	ACT		0.721	LRFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393127.1	NM_024036		7	27	7	27	---	---	---	---
USP35	57558	broad.mit.edu	37	11	77911274	77911274	+	Silent	SNP	C	C	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr11:77911274C>T	ENST00000529308.1	+	5	1293	c.1032C>T	c.(1030-1032)ttC>ttT	p.F344F	USP35_ENST00000530267.1_Intron|USP35_ENST00000441408.2_5'UTR|USP35_ENST00000530535.1_Intron|USP35_ENST00000526425.1_Silent_p.F75F	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	344					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)	p.F344F(1)|p.F100F(1)		endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			ACGAAGCCTTCCACCTGGTAA	0.627																																						ENST00000529308.1																			2	Substitution - coding silent(2)	p.F344F(1)|p.F100F(1)	prostate(2)	endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23						c.(1030-1032)ttC>ttT		ubiquitin specific peptidase 35							67.0	67.0	67.0					11																	77911274		1979	4149	6128	SO:0001819	synonymous_variant	57558				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr11:77911274C>T	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"""Ubiquitin-specific peptidases"""	20061	protein-coding gene	gene with protein product			"""ubiquitin specific protease 35"""			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.1032C>T	11.37:g.77911274C>T			Somatic				USP35_ENST00000530267.1_Intron|USP35_ENST00000526425.1_Silent_p.F75F|USP35_ENST00000530535.1_Intron|USP35_ENST00000441408.2_5'UTR	p.F344F	NM_020798.2	NP_065849.1	WXS	Illumina GAIIx	Phase_I	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		5	1293	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		344						Silent	SNP	ENST00000529308.1	37	c.1032C>T	CCDS41693.1																																																																																				0.627	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		12	82	12	82	---	---	---	---
ATM	472	broad.mit.edu	37	11	108170450	108170450	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr11:108170450G>C	ENST00000452508.2	+	35	5204	c.5015G>C	c.(5014-5016)gGa>gCa	p.G1672A	ATM_ENST00000278616.4_Missense_Mutation_p.G1672A			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1672					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.G1672A(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GAGGCTGTTGGAAGCTGCTTG	0.333			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		2	Substitution - Missense(2)	p.G1672A(2)	prostate(2)	NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(5014-5016)gGa>gCa	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							100.0	108.0	105.0					11																	108170450		2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108170450G>C	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.5015G>C	11.37:g.108170450G>C	ENSP00000388058:p.Gly1672Ala	TSP Lung(14;0.12)	Somatic				ATM_ENST00000452508.2_Missense_Mutation_p.G1672A	p.G1672A	NM_000051.3	NP_000042	WXS	Illumina GAIIx	Phase_I	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	34	5400	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1672					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.5015G>C	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.921587	0.52653	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.71103	-0.54;-0.54	5.47	4.54	0.55810	Armadillo-type fold (1);	0.048152	0.85682	N	0.000000	T	0.64929	0.2643	L	0.60455	1.87	0.51767	D	0.999939	B	0.32467	0.372	B	0.27715	0.082	T	0.61667	-0.7016	10	0.20519	T	0.43	.	16.0856	0.81045	0.0:0.1343:0.8657:0.0	.	1672	Q13315	ATM_HUMAN	A	1672	ENSP00000278616:G1672A;ENSP00000388058:G1672A	ENSP00000278616:G1672A	G	+	2	0	ATM	107675660	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.124000	0.77185	1.264000	0.44198	0.650000	0.86243	GGA		0.333	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		30	209	30	209	---	---	---	---
TAS2R46	259292	broad.mit.edu	37	12	11214315	11214315	+	Silent	SNP	T	T	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr12:11214315T>A	ENST00000533467.1	-	1	578	c.579A>T	c.(577-579)atA>atT	p.I193I	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	193					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.I193I(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		GCAGAAAAGATATCAGGGTCA	0.413																																						ENST00000533467.1																			2	Substitution - coding silent(2)	p.I193I(2)	prostate(2)	endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						c.(577-579)atA>atT		taste receptor, type 2, member 46							178.0	183.0	181.0					12																	11214315		2203	4300	6503	SO:0001819	synonymous_variant	259292				sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity	g.chr12:11214315T>A	AF494227	CCDS53748.1	12p13.2	2012-08-22				ENSG00000226761		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18877	protein-coding gene	gene with protein product		612774				12379855	Standard	NM_176887		Approved	T2R54	uc001qzp.1	P59540		ENST00000533467.1:c.579A>T	12.37:g.11214315T>A			Somatic				PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	p.I193I	NM_176887.2	NP_795368.2	WXS	Illumina GAIIx	Phase_I	P59540	T2R46_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)	1	578	-			193					P59548|Q645X6	Silent	SNP	ENST00000533467.1	37	c.579A>T	CCDS53748.1																																																																																				0.413	TAS2R46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383559.1	NM_176887		39	231	39	231	---	---	---	---
RERGL	79785	broad.mit.edu	37	12	18237549	18237549	+	Silent	SNP	C	C	A	rs201085120		TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr12:18237549C>A	ENST00000229002.2	-	5	443	c.237G>T	c.(235-237)ggG>ggT	p.G79G	RERGL_ENST00000538724.1_Silent_p.G78G|RERGL_ENST00000541632.1_5'UTR|RERGL_ENST00000536890.1_Intron	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	79	Small GTPase-like.				GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						CAATAACAAACCCATCTGCCC	0.408																																						ENST00000229002.2																			0				endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(235-237)ggG>ggT		RERG/RAS-like							146.0	140.0	142.0					12																	18237549		2203	4300	6503	SO:0001819	synonymous_variant	79785				signal transduction	membrane	GTP binding|GTPase activity	g.chr12:18237549C>A	AK026308	CCDS8679.1, CCDS66332.1	12p12.3	2014-08-12			ENSG00000111404	ENSG00000111404			26213	protein-coding gene	gene with protein product						24127187	Standard	NM_001286201		Approved	FLJ22655	uc001rdq.3	Q9H628	OTTHUMG00000168820	ENST00000229002.2:c.237G>T	12.37:g.18237549C>A			Somatic				RERGL_ENST00000541632.1_5'UTR|RERGL_ENST00000538724.1_Silent_p.G78G|RERGL_ENST00000536890.1_Intron	p.G79G	NM_024730.2	NP_079006.1	WXS	Illumina GAIIx	Phase_I	Q9H628	RERGL_HUMAN			5	443	-			79			Small GTPase-like.			Silent	SNP	ENST00000229002.2	37	c.237G>T	CCDS8679.1																																																																																				0.408	RERGL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401198.1	NM_024730		6	235	6	235	---	---	---	---
CASC1	55259	broad.mit.edu	37	12	25264722	25264722	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr12:25264722A>C	ENST00000320267.9	-	13	1826	c.1745T>G	c.(1744-1746)gTt>gGt	p.V582G	CASC1_ENST00000557684.1_5'Flank|CASC1_ENST00000537577.1_Missense_Mutation_p.V470G|CASC1_ENST00000395987.3_Missense_Mutation_p.V588G|CASC1_ENST00000545133.1_Missense_Mutation_p.V523G|CASC1_ENST00000354189.5_Missense_Mutation_p.V646G|CASC1_ENST00000395990.2_Missense_Mutation_p.V542G	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	582										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			GTTTATAATAACATAAAAATG	0.279																																						ENST00000354189.5																			0				breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1936-1938)gTt>gGt		cancer susceptibility candidate 1							52.0	56.0	55.0					12																	25264722		2202	4295	6497	SO:0001583	missense	55259							g.chr12:25264722A>C	AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 54"""					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195	ENST00000320267.9:c.1745T>G	12.37:g.25264722A>C	ENSP00000313141:p.Val582Gly		Somatic				CASC1_ENST00000395987.3_Missense_Mutation_p.V588G|CASC1_ENST00000545133.1_Missense_Mutation_p.V523G|CASC1_ENST00000395990.2_Missense_Mutation_p.V542G|CASC1_ENST00000320267.9_Missense_Mutation_p.V582G|CASC1_ENST00000537577.1_Missense_Mutation_p.V470G	p.V646G	NM_001082972.1	NP_001076441.1	WXS	Illumina GAIIx	Phase_I	Q6TDU7	CASC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)		14	1972	-	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		582					B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Missense_Mutation	SNP	ENST00000320267.9	37	c.1937T>G	CCDS41762.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.52|13.52	2.260250|2.260250	0.39995|0.39995	.|.	.|.	ENSG00000118307|ENSG00000118307	ENST00000556006|ENST00000354189;ENST00000395987;ENST00000320267;ENST00000395990;ENST00000537577;ENST00000545133;ENST00000389246	.|T;T;T;T;T	.|0.57273	.|0.41;1.08;1.08;0.5;0.51	5.09|5.09	5.09|5.09	0.68999|0.68999	.|.	.|5.970640	.|0.00780	.|N	.|0.001273	T|T	0.77301|0.77301	0.4110|0.4110	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.91635	.|0.999;0.999;0.999;0.997;0.999	T|T	0.56032|0.56032	-0.8046|-0.8046	5|10	.|0.51188	.|T	.|0.08	-0.2726|-0.2726	12.8988|12.8988	0.58113|0.58113	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|470;523;646;582;588	.|F5H555;F5H6T6;Q6TDU7-3;Q6TDU7;F8W8F9	.|.;.;.;CASC1_HUMAN;.	W|G	418|646;588;582;542;470;523;392	.|ENSP00000346126:V646G;ENSP00000379310:V588G;ENSP00000313141:V582G;ENSP00000379313:V542G;ENSP00000437373:V523G	.|ENSP00000313141:V582G	C|V	-|-	3|2	2|0	CASC1|CASC1	25155989|25155989	0.996000|0.996000	0.38824|0.38824	0.911000|0.911000	0.35937|0.35937	0.127000|0.127000	0.20565|0.20565	4.177000|4.177000	0.58276|0.58276	2.054000|2.054000	0.61138|0.61138	0.528000|0.528000	0.53228|0.53228	TGT|GTT		0.279	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316761.1	NM_018272		5	140	5	140	---	---	---	---
IPO8	10526	broad.mit.edu	37	12	30818715	30818715	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr12:30818715T>A	ENST00000256079.4	-	12	1624	c.1286A>T	c.(1285-1287)aAg>aTg	p.K429M	IPO8_ENST00000544829.1_Missense_Mutation_p.K224M	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	429					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)	p.K429M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCCATCTTTCTTCCTAGGGTC	0.358																																						ENST00000256079.4																			1	Substitution - Missense(1)	p.K429M(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52						c.(1285-1287)aAg>aTg		importin 8							101.0	104.0	103.0					12																	30818715		2203	4300	6503	SO:0001583	missense	10526				intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	g.chr12:30818715T>A	U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"""Importins"""	9853	protein-coding gene	gene with protein product		605600	"""RAN binding protein 8"""	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.1286A>T	12.37:g.30818715T>A	ENSP00000256079:p.Lys429Met		Somatic				IPO8_ENST00000544829.1_Missense_Mutation_p.K224M	p.K429M	NM_006390.3	NP_006381.2	WXS	Illumina GAIIx	Phase_I	O15397	IPO8_HUMAN			12	1624	-	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		429					B7Z7M3	Missense_Mutation	SNP	ENST00000256079.4	37	c.1286A>T	CCDS8719.1	.	.	.	.	.	.	.	.	.	.	T	18.49	3.636369	0.67130	.	.	ENSG00000133704	ENST00000256079;ENST00000544829	T;T	0.67171	-0.25;-0.25	4.62	4.62	0.57501	Armadillo-like helical (1);Armadillo-type fold (1);Exportin/Importin, Cse1-like (1);	0.092714	0.85682	D	0.000000	T	0.79064	0.4383	M	0.66939	2.045	0.42102	D	0.991344	D;D	0.71674	0.998;0.998	D;D	0.70016	0.95;0.967	T	0.81697	-0.0815	10	0.62326	D	0.03	-25.6349	14.4591	0.67438	0.0:0.0:0.0:1.0	.	224;429	B7Z7M3;O15397	.;IPO8_HUMAN	M	429;224	ENSP00000256079:K429M;ENSP00000444520:K224M	ENSP00000256079:K429M	K	-	2	0	IPO8	30709982	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.742000	0.47434	2.064000	0.61679	0.477000	0.44152	AAG		0.358	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390		22	134	22	134	---	---	---	---
IPO8	10526	broad.mit.edu	37	12	30818751	30818751	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr12:30818751T>A	ENST00000256079.4	-	12	1588	c.1250A>T	c.(1249-1251)tAt>tTt	p.Y417F	IPO8_ENST00000544829.1_Missense_Mutation_p.Y212F	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	417					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)	p.Y417F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CAGGATTTGATAACAGAATGC	0.378																																						ENST00000256079.4																			1	Substitution - Missense(1)	p.Y417F(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52						c.(1249-1251)tAt>tTt		importin 8							93.0	94.0	94.0					12																	30818751		2203	4300	6503	SO:0001583	missense	10526				intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	g.chr12:30818751T>A	U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"""Importins"""	9853	protein-coding gene	gene with protein product		605600	"""RAN binding protein 8"""	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.1250A>T	12.37:g.30818751T>A	ENSP00000256079:p.Tyr417Phe		Somatic				IPO8_ENST00000544829.1_Missense_Mutation_p.Y212F	p.Y417F	NM_006390.3	NP_006381.2	WXS	Illumina GAIIx	Phase_I	O15397	IPO8_HUMAN			12	1588	-	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		417					B7Z7M3	Missense_Mutation	SNP	ENST00000256079.4	37	c.1250A>T	CCDS8719.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.593798	0.86953	.	.	ENSG00000133704	ENST00000256079;ENST00000544829	T;T	0.66815	-0.23;-0.23	4.52	4.52	0.55395	Armadillo-like helical (1);Armadillo-type fold (1);Exportin/Importin, Cse1-like (1);	0.055492	0.64402	D	0.000001	T	0.69682	0.3138	L	0.56769	1.78	0.46061	D	0.998846	P;P	0.45212	0.741;0.853	P;P	0.50708	0.648;0.648	T	0.66192	-0.5985	10	0.19590	T	0.45	-17.8414	14.2775	0.66189	0.0:0.0:0.0:1.0	.	212;417	B7Z7M3;O15397	.;IPO8_HUMAN	F	417;212	ENSP00000256079:Y417F;ENSP00000444520:Y212F	ENSP00000256079:Y417F	Y	-	2	0	IPO8	30710018	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	7.477000	0.81069	2.019000	0.59389	0.477000	0.44152	TAT		0.378	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390		28	120	28	120	---	---	---	---
EEA1	8411	broad.mit.edu	37	12	93171901	93171901	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr12:93171901C>T	ENST00000322349.8	-	26	3973	c.3709G>A	c.(3709-3711)Gct>Act	p.A1237T		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	1237					early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						GTAAGTTTAGCCTCATTTTCT	0.373																																						ENST00000322349.8																			0				endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						c.(3709-3711)Gct>Act		early endosome antigen 1							202.0	186.0	191.0					12																	93171901		2202	4300	6502	SO:0001583	missense	8411				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding	g.chr12:93171901C>T	L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.3709G>A	12.37:g.93171901C>T	ENSP00000317955:p.Ala1237Thr		Somatic					p.A1237T	NM_003566.3	NP_003557	WXS	Illumina GAIIx	Phase_I	Q15075	EEA1_HUMAN			26	3973	-			1237					Q14221	Missense_Mutation	SNP	ENST00000322349.8	37	c.3709G>A	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	C	9.871	1.198824	0.22121	.	.	ENSG00000102189	ENST00000322349	T	0.65178	-0.14	5.61	-1.16	0.09678	.	0.641212	0.14314	N	0.327469	T	0.34542	0.0901	N	0.11560	0.145	0.20703	N	0.999863	B	0.02656	0.0	B	0.01281	0.0	T	0.18903	-1.0322	10	0.17369	T	0.5	.	7.5711	0.27909	0.1071:0.4215:0.0:0.4715	.	1237	Q15075	EEA1_HUMAN	T	1237	ENSP00000317955:A1237T	ENSP00000317955:A1237T	A	-	1	0	EEA1	91696032	0.269000	0.24143	0.431000	0.26735	0.781000	0.44180	0.101000	0.15251	-0.130000	0.11599	-0.237000	0.12165	GCT		0.373	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566		7	295	7	295	---	---	---	---
CHFR	55743	broad.mit.edu	37	12	133428223	133428223	+	Silent	SNP	C	C	T	rs142511371		TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr12:133428223C>T	ENST00000432561.2	-	12	1582	c.1509G>A	c.(1507-1509)ccG>ccA	p.P503P	CHFR_ENST00000537522.1_Silent_p.P125P|CHFR_ENST00000450056.2_Silent_p.P491P|CHFR_ENST00000266880.7_Silent_p.P502P|CHFR_ENST00000443047.2_Silent_p.P411P|CHFR_ENST00000315585.7_Silent_p.P462P|CHFR_ENST00000541837.2_5'UTR			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	503					mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|modification-dependent protein catabolic process (GO:0019941)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)|PML body (GO:0016605)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P462P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		GGGCGACACGCGGGTCCTGCT	0.657																																						ENST00000266880.7																			1	Substitution - coding silent(1)	p.P462P(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1504-1506)ccG>ccA		checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase		C	,,,,	0,4406		0,0,2203	83.0	90.0	87.0		1509,1506,1473,1233,1386	-6.4	0.0	12	dbSNP_134	87	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CHFR	NM_001161344.1,NM_001161345.1,NM_001161346.1,NM_001161347.1,NM_018223.2	,,,,	0,2,6500	TT,TC,CC		0.0233,0.0,0.0154	,,,,	503/665,502/664,491/653,411/573,462/624	133428223	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	55743				cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:133428223C>T	AK001658	CCDS31937.1, CCDS53847.1, CCDS53848.1, CCDS53849.1	12q24.33	2012-02-23	2012-02-23			ENSG00000072609		"""RING-type (C3HC4) zinc fingers"""	20455	protein-coding gene	gene with protein product		605209	"""checkpoint with forkhead and ring finger domains"""			10935642, 11807090	Standard	NM_001161344		Approved	FLJ10796, RNF196	uc001ulf.2	Q96EP1		ENST00000432561.2:c.1509G>A	12.37:g.133428223C>T			Somatic				CHFR_ENST00000443047.2_Silent_p.P411P|CHFR_ENST00000450056.2_Silent_p.P491P|CHFR_ENST00000315585.7_Silent_p.P462P|CHFR_ENST00000537522.1_Silent_p.P125P|CHFR_ENST00000432561.2_Silent_p.P503P|CHFR_ENST00000541837.2_5'UTR	p.P502P			WXS	Illumina GAIIx	Phase_I	Q96EP1	CHFR_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)	13	1569	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)	503					A6NEN5|B4DZ77|B4E2L6|Q96SL3|Q9NRT4|Q9NT32|Q9NVD5	Silent	SNP	ENST00000432561.2	37	c.1506G>A	CCDS53849.1																																																																																				0.657	CHFR-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397130.2			58	292	58	292	---	---	---	---
RNASE6	6039	broad.mit.edu	37	14	21250158	21250158	+	Silent	SNP	C	C	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr14:21250158C>T	ENST00000304677.2	+	2	593	c.300C>T	c.(298-300)aaC>aaT	p.N100N	RP11-219E7.1_ENST00000556624.1_RNA	NM_005615.4	NP_005606.1	Q93091	RNAS6_HUMAN	ribonuclease, RNase A family, k6	100					defense response (GO:0006952)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)			large_intestine(1)	1	all_cancers(95;0.00406)		Epithelial(56;9.21e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0126)		AGCCTGTCAACATGACTGACT	0.502																																						ENST00000304677.2																			0				large_intestine(1)	1						c.(298-300)aaC>aaT		ribonuclease, RNase A family, k6							148.0	143.0	145.0					14																	21250158		2203	4300	6503	SO:0001819	synonymous_variant	6039				defense response|RNA catabolic process	extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21250158C>T	U64998	CCDS9558.1	14q11	2008-07-09			ENSG00000169413	ENSG00000169413		"""Ribonucleases, RNase A"""	10048	protein-coding gene	gene with protein product	"""RNase k6"""	601981		RNS6		8836175, 9647635	Standard	NM_005615		Approved		uc001vye.4	Q93091	OTTHUMG00000029585	ENST00000304677.2:c.300C>T	14.37:g.21250158C>T			Somatic					p.N100N	NM_005615.4	NP_005606.1	WXS	Illumina GAIIx	Phase_I	Q93091	RNAS6_HUMAN	Epithelial(56;9.21e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0126)	2	593	+	all_cancers(95;0.00406)		100						Silent	SNP	ENST00000304677.2	37	c.300C>T	CCDS9558.1																																																																																				0.502	RNASE6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073750.2			8	286	8	286	---	---	---	---
TRAV40	28641	broad.mit.edu	37	14	22783112	22783112	+	RNA	SNP	C	C	A	rs578024071		TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr14:22783112C>A	ENST00000390467.3	+	0	78									T cell receptor alpha variable 40																		AGCAGACGGGCCAAATAACCG	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		15372	0.0		0.001	False		,,,				2504	0.0					ENST00000390467.3																			0																				46.0	50.0	49.0					14																	22783112		1860	4106	5966			28641							g.chr14:22783112C>A	X73521		14q11.2	2012-02-07			ENSG00000211819	ENSG00000211819		"""T cell receptors / TRA locus"""	12141	other	T cell receptor gene						8412327	Standard	NG_001332		Approved	TCRAV31S1, TCRAV40S1			OTTHUMG00000170840		14.37:g.22783112C>A			Somatic								WXS	Illumina GAIIx	Phase_I					0	78	+									RNA	SNP	ENST00000390467.3	37																																																																																						0.478	TRAV40-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000410666.1	NG_001332		3	74	3	74	---	---	---	---
MIS18BP1	55320	broad.mit.edu	37	14	45693191	45693191	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr14:45693191G>T	ENST00000310806.4	-	11	3057	c.2599C>A	c.(2599-2601)Ccc>Acc	p.P867T		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	867					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						CATTCTAAGGGATGCCTATTT	0.383																																						ENST00000310806.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						c.(2599-2601)Ccc>Acc		MIS18 binding protein 1							102.0	96.0	98.0					14																	45693191		2203	4300	6503	SO:0001583	missense	55320				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	g.chr14:45693191G>T	AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"""kinetochore null 2 homolog (C. elegans)"""		"""chromosome 14 open reading frame 106"""	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.2599C>A	14.37:g.45693191G>T	ENSP00000309790:p.Pro867Thr		Somatic					p.P867T	NM_018353.4	NP_060823.3	WXS	Illumina GAIIx	Phase_I	Q6P0N0	M18BP_HUMAN			11	3057	-			867					D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Missense_Mutation	SNP	ENST00000310806.4	37	c.2599C>A	CCDS9684.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.980202	0.00046	.	.	ENSG00000129534	ENST00000310806	T	0.16324	2.35	5.4	-4.72	0.03269	.	1.162560	0.06170	N	0.677462	T	0.08179	0.0204	N	0.14661	0.345	0.09310	N	1	B	0.15473	0.013	B	0.09377	0.004	T	0.40572	-0.9556	10	0.15952	T	0.53	14.412	7.658	0.28386	0.4838:0.1131:0.4031:0.0	.	867	Q6P0N0	M18BP_HUMAN	T	867	ENSP00000309790:P867T	ENSP00000309790:P867T	P	-	1	0	MIS18BP1	44762941	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.200000	0.17257	-0.907000	0.03862	-1.990000	0.00449	CCC		0.383	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2			8	207	8	207	---	---	---	---
DDHD1	80821	broad.mit.edu	37	14	53513502	53513502	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr14:53513502T>C	ENST00000323669.5	-	13	2686	c.2687A>G	c.(2686-2688)aAt>aGt	p.N896S	DDHD1_ENST00000555621.1_5'Flank|DDHD1_ENST00000395606.1_Missense_Mutation_p.N875S|DDHD1_ENST00000357758.3_Missense_Mutation_p.N868S	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	896					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.N868S(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					TGGATCTAAATTGGGTTTTGC	0.388																																						ENST00000357758.3																			1	Substitution - Missense(1)	p.N868S(1)	prostate(1)	breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25						c.(2602-2604)aAt>aGt		DDHD domain containing 1							153.0	135.0	141.0					14																	53513502		2203	4300	6503	SO:0001583	missense	80821				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding	g.chr14:53513502T>C	AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"""phosphatidic acid-preferring phospholipase A1"""	614603	"""spastic paraplegia 28 (autosomal recessive)"""	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.2687A>G	14.37:g.53513502T>C	ENSP00000327104:p.Asn896Ser		Somatic				DDHD1_ENST00000323669.5_Missense_Mutation_p.N896S|DDHD1_ENST00000395606.1_Missense_Mutation_p.N875S	p.N868S	NM_030637.2	NP_085140.2	WXS	Illumina GAIIx	Phase_I	Q8NEL9	DDHD1_HUMAN			12	2786	-	Breast(41;0.037)		896			DDHD.		G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Missense_Mutation	SNP	ENST00000323669.5	37	c.2603A>G	CCDS53895.1	.	.	.	.	.	.	.	.	.	.	T	4.807	0.149952	0.09185	.	.	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758;ENST00000395610	.	.	.	5.92	-5.14	0.02875	.	0.635988	0.18055	N	0.153130	T	0.14830	0.0358	N	0.02802	-0.49	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.26849	-1.0091	9	0.06365	T	0.9	-1.3423	16.1662	0.81757	0.0:0.5904:0.0:0.4096	.	875;896;868	G5E9D1;Q8NEL9;Q8NEL9-2	.;DDHD1_HUMAN;.	S	896;875;868;767	.	ENSP00000327104:N896S	N	-	2	0	DDHD1	52583252	0.000000	0.05858	0.139000	0.22197	0.903000	0.53119	-0.966000	0.03825	-1.007000	0.03408	0.459000	0.35465	AAT		0.388	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1			25	133	25	133	---	---	---	---
DACT1	51339	broad.mit.edu	37	14	59112942	59112942	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr14:59112942A>G	ENST00000335867.4	+	4	1625	c.1601A>G	c.(1600-1602)gAg>gGg	p.E534G	DACT1_ENST00000541264.2_Missense_Mutation_p.E253G|DACT1_ENST00000395153.3_Missense_Mutation_p.E497G|DACT1_ENST00000556859.1_Missense_Mutation_p.E253G			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	534					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)	p.E534G(1)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CCCGTGGAAGAGAGGCCTGCC	0.592																																						ENST00000395153.3																			1	Substitution - Missense(1)	p.E534G(1)	prostate(1)	endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						c.(1489-1491)gAg>gGg		dishevelled-binding antagonist of beta-catenin 1							49.0	59.0	56.0					14																	59112942		2203	4300	6503	SO:0001583	missense	51339				multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr14:59112942A>G	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.1601A>G	14.37:g.59112942A>G	ENSP00000337439:p.Glu534Gly		Somatic				DACT1_ENST00000335867.4_Missense_Mutation_p.E534G|DACT1_ENST00000556859.1_Missense_Mutation_p.E253G|DACT1_ENST00000541264.2_Missense_Mutation_p.E253G	p.E497G	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	WXS	Illumina GAIIx	Phase_I	Q9NYF0	DACT1_HUMAN			4	1637	+			534					A8MYJ2|Q86TY0	Missense_Mutation	SNP	ENST00000335867.4	37	c.1490A>G	CCDS9736.1	.	.	.	.	.	.	.	.	.	.	A	14.49	2.552105	0.45487	.	.	ENSG00000165617	ENST00000556859;ENST00000395151;ENST00000395153;ENST00000335867;ENST00000541264	T;T;T;T;T	0.62232	0.69;0.69;0.04;0.04;0.69	4.92	3.74	0.42951	.	0.359984	0.30168	N	0.010245	T	0.61286	0.2335	M	0.65975	2.015	0.35490	D	0.798895	P;P	0.40660	0.675;0.726	B;B	0.43478	0.344;0.421	T	0.69285	-0.5185	10	0.72032	D	0.01	-8.6379	7.5438	0.27755	0.7123:0.147:0.0:0.1407	.	497;534	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	G	253;253;497;534;253	ENSP00000451598:E253G;ENSP00000378581:E253G;ENSP00000378582:E497G;ENSP00000337439:E534G;ENSP00000442850:E253G	ENSP00000337439:E534G	E	+	2	0	DACT1	58182695	1.000000	0.71417	0.497000	0.27552	0.731000	0.41821	3.788000	0.55446	0.691000	0.31592	0.460000	0.39030	GAG		0.592	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		26	161	26	161	---	---	---	---
HSP90AA1	3320	broad.mit.edu	37	14	102548653	102548653	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr14:102548653C>T	ENST00000216281.8	-	10	2089	c.1884G>A	c.(1882-1884)atG>atA	p.M628I	HSP90AA1_ENST00000334701.7_Missense_Mutation_p.M750I	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	628					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	TCTTTGCTGCCATGTAACCCA	0.448																																						ENST00000334701.7																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28						c.(2248-2250)atG>atA		heat shock protein 90kDa alpha (cytosolic), class A member 1	Rifabutin(DB00615)						163.0	162.0	163.0					14																	102548653		2203	4300	6503	SO:0001583	missense	3320				axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding	g.chr14:102548653C>T	M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"""Heat shock proteins / HSPC"""	5253	protein-coding gene	gene with protein product		140571	"""heat shock 90kD protein 1, alpha"", ""heat shock 90kDa protein 1, alpha"""	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.1884G>A	14.37:g.102548653C>T	ENSP00000216281:p.Met628Ile		Somatic				HSP90AA1_ENST00000216281.8_Missense_Mutation_p.M628I	p.M750I	NM_001017963.2	NP_001017963.2	WXS	Illumina GAIIx	Phase_I	P07900	HS90A_HUMAN			11	2531	-			628					A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Missense_Mutation	SNP	ENST00000216281.8	37	c.2250G>A	CCDS9967.1	.	.	.	.	.	.	.	.	.	.	c	19.62	3.861845	0.71949	.	.	ENSG00000080824	ENST00000216281;ENST00000334701	T;T	0.10763	2.84;2.84	4.51	4.51	0.55191	.	0.000000	0.85682	U	0.000000	T	0.34978	0.0916	M	0.90252	3.1	0.80722	D	1	P;P	0.48640	0.913;0.864	P;P	0.54060	0.741;0.681	T	0.49173	-0.8967	10	0.87932	D	0	-45.819	17.5881	0.87988	0.0:1.0:0.0:0.0	.	750;628	P07900-2;P07900	.;HS90A_HUMAN	I	628;750	ENSP00000216281:M628I;ENSP00000335153:M750I	ENSP00000216281:M628I	M	-	3	0	HSP90AA1	101618406	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.776000	0.68924	2.228000	0.72767	0.585000	0.79938	ATG		0.448	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348		7	394	7	394	---	---	---	---
CILP	8483	broad.mit.edu	37	15	65502037	65502037	+	Silent	SNP	C	C	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr15:65502037C>A	ENST00000261883.4	-	2	223	c.57G>T	c.(55-57)gtG>gtT	p.V19V		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	19					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.V19V(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CTATACCCAACACAGATGTGA	0.542																																						ENST00000261883.4																			1	Substitution - coding silent(1)	p.V19V(1)	prostate(1)	breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						c.(55-57)gtG>gtT		cartilage intermediate layer protein, nucleotide pyrophosphohydrolase							155.0	128.0	137.0					15																	65502037		2201	4299	6500	SO:0001819	synonymous_variant	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65502037C>A	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.57G>T	15.37:g.65502037C>A			Somatic					p.V19V	NM_003613.3	NP_003604	WXS	Illumina GAIIx	Phase_I	O75339	CILP1_HUMAN			2	223	-			19					B2R8F7|Q6UW99|Q8IYI5	Silent	SNP	ENST00000261883.4	37	c.57G>T	CCDS10203.1																																																																																				0.542	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		10	83	10	83	---	---	---	---
DENND4A	10260	broad.mit.edu	37	15	66015198	66015198	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr15:66015198G>T	ENST00000431932.2	-	12	1784	c.1576C>A	c.(1576-1578)Caa>Aaa	p.Q526K	DENND4A_ENST00000443035.3_Missense_Mutation_p.Q526K	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	526					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TTTGCCAATTGCTGATGCAAA	0.303																																						ENST00000443035.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(1576-1578)Caa>Aaa		DENN/MADD domain containing 4A							101.0	86.0	90.0					15																	66015198		1808	4066	5874	SO:0001583	missense	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:66015198G>T	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.1576C>A	15.37:g.66015198G>T	ENSP00000396830:p.Gln526Lys		Somatic				DENND4A_ENST00000431932.2_Missense_Mutation_p.Q526K	p.Q526K	NM_001144823.1	NP_001138295.1	WXS	Illumina GAIIx	Phase_I	Q7Z401	MYCPP_HUMAN			12	1791	-			526					E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	c.1576C>A	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703210	0.68501	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.04917	3.53;3.55	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.23727	0.0574	M	0.68317	2.08	0.80722	D	1	B;D;D	0.71674	0.01;0.998;0.994	B;D;D	0.78314	0.013;0.991;0.968	T	0.00715	-1.1597	10	0.37606	T	0.19	.	18.2232	0.89907	0.0:0.0:1.0:0.0	.	526;526;526	B7Z5Y3;E7EPL3;Q7Z401	.;.;MYCPP_HUMAN	K	526	ENSP00000391167:Q526K;ENSP00000396830:Q526K	ENSP00000396830:Q526K	Q	-	1	0	DENND4A	63802252	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	6.480000	0.73604	2.360000	0.80028	0.563000	0.77884	CAA		0.303	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		3	43	3	43	---	---	---	---
IL16	3603	broad.mit.edu	37	15	81598322	81598322	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr15:81598322T>G	ENST00000302987.4	+	16	3494	c.3494T>G	c.(3493-3495)aTc>aGc	p.I1165S	RP11-761I4.4_ENST00000607019.1_RNA|IL16_ENST00000394652.2_Missense_Mutation_p.I464S|IL16_ENST00000394660.2_Missense_Mutation_p.I1165S			Q14005	IL16_HUMAN	interleukin 16	1165	Interaction with PPP1R12A, PPP1R12B and PPP1R12C.|PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GTTCTTTCCATCAACGGCAAG	0.547																																						ENST00000394660.2																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						c.(3493-3495)aTc>aGc		interleukin 16							166.0	173.0	170.0					15																	81598322		2203	4300	6503	SO:0001583	missense	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81598322T>G	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.3494T>G	15.37:g.81598322T>G	ENSP00000302935:p.Ile1165Ser		Somatic				RP11-761I4.4_ENST00000607019.1_RNA|IL16_ENST00000394652.2_Missense_Mutation_p.I464S|IL16_ENST00000302987.4_Missense_Mutation_p.I1165S	p.I1165S	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	WXS	Illumina GAIIx	Phase_I	Q14005	IL16_HUMAN			17	3854	+			1165			Interaction with PPP1R12A, PPP1R12B and PPP1R12C.|PDZ 3.		A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	c.3494T>G	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	T	15.75	2.925441	0.52759	.	.	ENSG00000172349	ENST00000394660;ENST00000355368;ENST00000302987;ENST00000329842;ENST00000394653;ENST00000394652;ENST00000394656	T;T;T	0.39592	1.07;1.07;1.07	4.64	4.64	0.57946	PDZ/DHR/GLGF (4);	0.000000	0.47455	D	0.000221	T	0.76835	0.4043	H	0.98027	4.13	0.58432	D	0.999998	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;0.999	D;D;D;D;D;D	0.97110	0.999;0.999;0.974;0.998;1.0;0.994	D	0.85906	0.1437	10	0.87932	D	0	.	14.225	0.65853	0.0:0.0:0.0:1.0	.	997;658;702;555;1165;1165	F8W7Z5;Q6ZTT5;B7Z8M3;B3KY62;Q14005;Q14005-2	.;.;.;.;IL16_HUMAN;.	S	1165;997;1165;702;555;464;464	ENSP00000378155:I1165S;ENSP00000302935:I1165S;ENSP00000378147:I464S	ENSP00000302935:I1165S	I	+	2	0	IL16	79385377	1.000000	0.71417	1.000000	0.80357	0.031000	0.12232	7.224000	0.78042	1.933000	0.56026	0.533000	0.62120	ATC		0.547	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		8	347	8	347	---	---	---	---
POLG	5428	broad.mit.edu	37	15	89868709	89868709	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr15:89868709C>T	ENST00000268124.5	-	10	2254	c.1921G>A	c.(1921-1923)Gag>Aag	p.E641K	POLG_ENST00000442287.2_Missense_Mutation_p.E641K	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	641					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CCAGCTGACTCCAGGGTGGTA	0.657								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	ENST00000268124.5																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33						c.(1921-1923)Gag>Aag	DNA polymerases (catalytic subunits)	polymerase (DNA directed), gamma							58.0	57.0	57.0					15																	89868709		2200	4299	6499	SO:0001583	missense	5428				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	g.chr15:89868709C>T	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.1921G>A	15.37:g.89868709C>T	ENSP00000268124:p.Glu641Lys		Somatic				POLG_ENST00000442287.2_Missense_Mutation_p.E641K	p.E641K	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	WXS	Illumina GAIIx	Phase_I	P54098	DPOG1_HUMAN	STAD - Stomach adenocarcinoma(125;0.165)		10	2254	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		641					Q8NFM2|Q92515	Missense_Mutation	SNP	ENST00000268124.5	37	c.1921G>A	CCDS10350.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345541	0.41498	.	.	ENSG00000140521	ENST00000268124;ENST00000442287;ENST00000526314	D;D;D	0.96300	-3.97;-3.97;-3.17	4.52	2.49	0.30216	.	0.655279	0.15987	N	0.235022	D	0.92123	0.7503	L	0.42581	1.335	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.82094	-0.0627	10	0.27082	T	0.32	0.09	6.867	0.24098	0.1714:0.7354:0.0:0.0932	.	641	P54098	DPOG1_HUMAN	K	641;641;97	ENSP00000268124:E641K;ENSP00000399851:E641K;ENSP00000432389:E97K	ENSP00000268124:E641K	E	-	1	0	POLG	87669713	0.061000	0.20836	0.000000	0.03702	0.247000	0.25773	2.970000	0.49240	0.367000	0.24454	0.561000	0.74099	GAG		0.657	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693		12	194	12	194	---	---	---	---
SYT4	6860	broad.mit.edu	37	18	40853620	40853620	+	Silent	SNP	T	T	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr18:40853620T>A	ENST00000255224.3	-	2	1142	c.774A>T	c.(772-774)ctA>ctT	p.L258L	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Silent_p.L240L	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	258	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000305}.				exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						AGAGAGGAATTAGAACTTCCC	0.353																																					NSCLC(85;81 1419 2855 22820 35912)	ENST00000255224.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(772-774)ctA>ctT		synaptotagmin IV							50.0	53.0	52.0					18																	40853620		2201	4300	6501	SO:0001819	synonymous_variant	6860					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	g.chr18:40853620T>A	BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"""Synaptotagmins"""	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.774A>T	18.37:g.40853620T>A			Somatic				SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Silent_p.L240L	p.L258L	NM_020783.3	NP_065834.1	WXS	Illumina GAIIx	Phase_I	Q9H2B2	SYT4_HUMAN			2	1142	-			258			C2 1.|Phospholipid binding (Probable).		B4DEU3|Q9P2K4	Silent	SNP	ENST00000255224.3	37	c.774A>T	CCDS11922.1																																																																																				0.353	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255851.2	NM_020783		4	127	4	127	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9074121	9074121	+	Missense_Mutation	SNP	G	G	C	rs574638609		TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr19:9074121G>C	ENST00000397910.4	-	3	13528	c.13325C>G	c.(13324-13326)aCa>aGa	p.T4442R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4444	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGAGGGCTTGTCCAGGACAC	0.493																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(13324-13326)aCa>aGa		mucin 16, cell surface associated							124.0	121.0	122.0					19																	9074121		2042	4183	6225	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9074121G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.13325C>G	19.37:g.9074121G>C	ENSP00000381008:p.Thr4442Arg		Somatic					p.T4442R	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			3	13528	-			4444			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.13325C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	7.315	0.615802	0.14129	.	.	ENSG00000181143	ENST00000397910	T	0.23147	1.92	1.99	0.874	0.19124	.	.	.	.	.	T	0.28067	0.0692	L	0.53249	1.67	.	.	.	D	0.62365	0.991	P	0.48840	0.592	T	0.39333	-0.9619	8	0.87932	D	0	.	6.4795	0.22055	0.0:0.304:0.696:0.0	.	4442	B5ME49	.	R	4442	ENSP00000381008:T4442R	ENSP00000381008:T4442R	T	-	2	0	MUC16	8935121	0.000000	0.05858	0.000000	0.03702	0.617000	0.37484	-0.041000	0.12084	0.382000	0.24878	0.305000	0.20034	ACA		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		13	186	13	186	---	---	---	---
C19orf57	79173	broad.mit.edu	37	19	14015677	14015677	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr19:14015677G>A	ENST00000586783.1	-	1	28	c.29C>T	c.(28-30)tCa>tTa	p.S10L	CC2D1A_ENST00000589606.1_5'Flank|CC2D1A_ENST00000318003.7_5'Flank|C19orf57_ENST00000346736.2_Missense_Mutation_p.S10L|C19orf57_ENST00000454313.1_Missense_Mutation_p.S10L|C19orf57_ENST00000591586.1_Missense_Mutation_p.S10L			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	10					multicellular organismal development (GO:0007275)			p.S10L(1)		breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GAACGTACCTGAGGTCCGCAG	0.413																																						ENST00000454313.1																			1	Substitution - Missense(1)	p.S10L(1)	prostate(1)	breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(28-30)tCa>tTa		chromosome 19 open reading frame 57							209.0	179.0	189.0					19																	14015677		2203	4300	6503	SO:0001583	missense	79173				multicellular organismal development		protein binding	g.chr19:14015677G>A	BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016			28153	protein-coding gene	gene with protein product						8228263	Standard	NM_024323		Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000586783.1:c.29C>T	19.37:g.14015677G>A	ENSP00000465822:p.Ser10Leu		Somatic				C19orf57_ENST00000591586.1_Missense_Mutation_p.S10L|C19orf57_ENST00000346736.2_Missense_Mutation_p.S10L|C19orf57_ENST00000586783.1_Missense_Mutation_p.S10L	p.S10L			WXS	Illumina GAIIx	Phase_I	Q0VDD7	CS057_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2e-21)		2	87	-			10					Q13411|Q8N825|Q96D63|Q9BU49	Missense_Mutation	SNP	ENST00000586783.1	37	c.29C>T		.	.	.	.	.	.	.	.	.	.	G	16.05	3.011897	0.54468	.	.	ENSG00000132016	ENST00000454313;ENST00000346736	T;T	0.26957	1.7;1.7	4.67	4.67	0.58626	.	0.290400	0.18850	N	0.129438	T	0.37046	0.0989	L	0.32530	0.975	0.37494	D	0.916487	D	0.71674	0.998	D	0.66979	0.948	T	0.19582	-1.0301	10	0.44086	T	0.13	-12.9188	12.9214	0.58234	0.0:0.0:1.0:0.0	.	10	Q0VDD7-2	.	L	10	ENSP00000404382:S10L;ENSP00000254336:S10L	ENSP00000254336:S10L	S	-	2	0	C19orf57	13876677	0.996000	0.38824	0.985000	0.45067	0.225000	0.24961	3.844000	0.55873	2.430000	0.82344	0.655000	0.94253	TCA		0.413	C19orf57-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000457947.1	NM_024323		27	155	27	155	---	---	---	---
HAPLN4	404037	broad.mit.edu	37	19	19371864	19371864	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr19:19371864C>T	ENST00000291481.7	-	3	305	c.242G>A	c.(241-243)gGc>gAc	p.G81D	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	81	Ig-like C2-type.				cell adhesion (GO:0007155)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)	p.G81D(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)		Hyaluronan(DB08818)	GAGCCGGACGCCGTCGTGACC	0.667																																						ENST00000291481.7																			1	Substitution - Missense(1)	p.G81D(1)	prostate(1)	NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16						c.(241-243)gGc>gAc		hyaluronan and proteoglycan link protein 4							36.0	35.0	35.0					19																	19371864		2203	4299	6502	SO:0001583	missense	404037				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr19:19371864C>T	AB107883	CCDS12398.1	19p13.1	2013-01-11						"""Immunoglobulin superfamily / V-set domain containing"""	31357	protein-coding gene	gene with protein product	"""brain link protein 2"""					12663660	Standard	NM_023002		Approved	BRAL2, KIAA1926	uc002nmb.3	Q86UW8		ENST00000291481.7:c.242G>A	19.37:g.19371864C>T	ENSP00000291481:p.Gly81Asp		Somatic				AC138430.4_ENST00000586064.2_RNA	p.G81D	NM_023002.2	NP_075378.1	WXS	Illumina GAIIx	Phase_I	Q86UW8	HPLN4_HUMAN	Epithelial(12;0.00575)		3	305	-			81			Ig-like C2-type.		A5PKW5|Q96PW2	Missense_Mutation	SNP	ENST00000291481.7	37	c.242G>A	CCDS12398.1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.933260	0.34096	.	.	ENSG00000187664	ENST00000291481	T	0.63913	-0.07	4.52	3.38	0.38709	Immunoglobulin V-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.320352	0.28583	N	0.014822	T	0.44371	0.1290	N	0.19112	0.55	0.31651	N	0.646846	P	0.43352	0.804	P	0.47346	0.544	T	0.45600	-0.9250	10	0.12430	T	0.62	-11.0763	3.0061	0.06028	0.0:0.5015:0.2657:0.2328	.	81	Q86UW8	HPLN4_HUMAN	D	81	ENSP00000291481:G81D	ENSP00000291481:G81D	G	-	2	0	HAPLN4	19232864	0.967000	0.33354	1.000000	0.80357	0.532000	0.34746	3.194000	0.51005	1.042000	0.40150	0.561000	0.74099	GGC		0.667	HAPLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460117.2	NM_023002		9	49	9	49	---	---	---	---
FAM98C	147965	broad.mit.edu	37	19	38895746	38895746	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr19:38895746A>T	ENST00000252530.5	+	4	567	c.548A>T	c.(547-549)cAt>cTt	p.H183L	FAM98C_ENST00000585954.1_3'UTR|FAM98C_ENST00000343358.7_Missense_Mutation_p.H183L|FAM98C_ENST00000588262.1_Intron	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	183								p.H183L(1)		endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CAGGAGTTGCATGCTAAGGTA	0.627																																						ENST00000252530.5																			1	Substitution - Missense(1)	p.H183L(1)	prostate(1)	endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(547-549)cAt>cTt		family with sequence similarity 98, member C							24.0	30.0	28.0					19																	38895746		2071	4221	6292	SO:0001583	missense	147965							g.chr19:38895746A>T		CCDS42562.1	19q13.2	2008-02-05				ENSG00000130244			27119	protein-coding gene	gene with protein product						12477932	Standard	NM_174905		Approved	FLJ44669	uc002oin.1	Q17RN3		ENST00000252530.5:c.548A>T	19.37:g.38895746A>T	ENSP00000252530:p.His183Leu		Somatic				FAM98C_ENST00000343358.7_Missense_Mutation_p.H183L|FAM98C_ENST00000588262.1_Intron|FAM98C_ENST00000585954.1_3'UTR	p.H183L	NM_174905.3	NP_777565.3	WXS	Illumina GAIIx	Phase_I	Q17RN3	FA98C_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		4	567	+	all_cancers(60;3.95e-06)		183					A6NMW3|Q66K45	Missense_Mutation	SNP	ENST00000252530.5	37	c.548A>T	CCDS42562.1	.	.	.	.	.	.	.	.	.	.	A	15.69	2.907085	0.52333	.	.	ENSG00000130244	ENST00000252530;ENST00000343358	T;T	0.42513	0.97;0.97	4.72	4.72	0.59763	.	0.144723	0.31922	N	0.006841	T	0.34919	0.0914	L	0.46741	1.465	0.40491	D	0.980544	P;B	0.43352	0.804;0.166	B;B	0.40066	0.318;0.063	T	0.14755	-1.0461	10	0.29301	T	0.29	2.4985	10.5727	0.45209	1.0:0.0:0.0:0.0	.	183;183	Q17RN3-2;Q17RN3	.;FA98C_HUMAN	L	183	ENSP00000252530:H183L;ENSP00000340348:H183L	ENSP00000252530:H183L	H	+	2	0	FAM98C	43587586	0.987000	0.35691	0.996000	0.52242	0.969000	0.65631	2.791000	0.47829	1.981000	0.57761	0.456000	0.33151	CAT		0.627	FAM98C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459222.1	NM_174905		16	66	16	66	---	---	---	---
BFSP1	631	broad.mit.edu	37	20	17475376	17475376	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr20:17475376C>A	ENST00000377873.3	-	8	1380	c.1341G>T	c.(1339-1341)aaG>aaT	p.K447N	BFSP1_ENST00000377868.2_Missense_Mutation_p.K322N|BFSP1_ENST00000544874.1_Missense_Mutation_p.K308N|BFSP1_ENST00000536626.1_Missense_Mutation_p.K308N	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	447	Tail.				cell maturation (GO:0048469)|lens fiber cell development (GO:0070307)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)	p.K447N(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						TCTCCTTGACCTTCCTGTATA	0.527																																						ENST00000377873.3																			1	Substitution - Missense(1)	p.K447N(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						c.(1339-1341)aaG>aaT		beaded filament structural protein 1, filensin							122.0	122.0	122.0					20																	17475376		2203	4300	6503	SO:0001583	missense	631					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	g.chr20:17475376C>A	Y16717	CCDS13126.1, CCDS54448.1, CCDS63229.1	20p12.1	2014-06-05			ENSG00000125864	ENSG00000125864		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1040	protein-coding gene	gene with protein product		603307				9787085	Standard	NM_001161705		Approved	CP94, CP115, LIFL-H, filensin	uc002wpo.3	Q12934	OTTHUMG00000031940	ENST00000377873.3:c.1341G>T	20.37:g.17475376C>A	ENSP00000367104:p.Lys447Asn		Somatic				BFSP1_ENST00000377868.2_Missense_Mutation_p.K322N|BFSP1_ENST00000536626.1_Missense_Mutation_p.K308N|BFSP1_ENST00000544874.1_Missense_Mutation_p.K308N	p.K447N	NM_001195.3	NP_001186.1	WXS	Illumina GAIIx	Phase_I	Q12934	BFSP1_HUMAN			8	1380	-			447			Tail.		F5H0G1|O43595|O76034|O95676|Q8IVZ6|Q9HBX4	Missense_Mutation	SNP	ENST00000377873.3	37	c.1341G>T	CCDS13126.1	.	.	.	.	.	.	.	.	.	.	C	9.916	1.210917	0.22289	.	.	ENSG00000125864	ENST00000377873;ENST00000377868;ENST00000536626;ENST00000544874	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.21	3.04	0.35103	.	0.401550	0.28784	N	0.014153	T	0.26919	0.0659	N	0.19112	0.55	0.20563	N	0.999881	B;B	0.25719	0.053;0.132	B;B	0.24701	0.053;0.055	T	0.25293	-1.0136	10	0.72032	D	0.01	-11.1024	9.0518	0.36380	0.1852:0.7218:0.0:0.093	.	322;447	Q12934-2;Q12934	.;BFSP1_HUMAN	N	447;322;308;308	ENSP00000367104:K447N;ENSP00000367099:K322N;ENSP00000442522:K308N;ENSP00000439870:K308N	ENSP00000367099:K322N	K	-	3	2	BFSP1	17423376	0.898000	0.30612	0.938000	0.37757	0.311000	0.27955	0.338000	0.19858	1.143000	0.42306	0.655000	0.94253	AAG		0.527	BFSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078119.6	NM_001195		35	217	35	217	---	---	---	---
RAE1	8480	broad.mit.edu	37	20	55948566	55948566	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr20:55948566C>G	ENST00000395841.2	+	9	1098	c.678C>G	c.(676-678)aaC>aaG	p.N226K	RAE1_ENST00000371242.2_Missense_Mutation_p.N226K|RAE1_ENST00000527947.1_Missense_Mutation_p.N226K|RAE1_ENST00000395840.2_Missense_Mutation_p.N226K	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	ribonucleic acid export 1	226					carbohydrate metabolic process (GO:0005975)|cellular response to organic cyclic compound (GO:0071407)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|nuclear pore (GO:0005643)|nucleolus (GO:0005730)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|RNA binding (GO:0003723)	p.N226K(1)		breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			ACAAACAGAACAAGCCTACTG	0.408																																						ENST00000395841.2																			1	Substitution - Missense(1)	p.N226K(1)	prostate(1)	breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21						c.(676-678)aaC>aaG		ribonucleic acid export 1							117.0	117.0	117.0					20																	55948566		2203	4300	6503	SO:0001583	missense	8480				carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	microtubule binding|RNA binding	g.chr20:55948566C>G	U84720	CCDS13458.1	20q13.31	2013-08-28	2013-08-28		ENSG00000101146	ENSG00000101146		"""WD repeat domain containing"""	9828	protein-coding gene	gene with protein product		603343	"""RAE1 (RNA export 1, S.pombe) homolog"", ""RAE1 RNA export 1 homolog (S. pombe)"""			9370289, 9256445	Standard	XM_005260582		Approved	Mnrp41	uc002xyi.3	P78406	OTTHUMG00000032819	ENST00000395841.2:c.678C>G	20.37:g.55948566C>G	ENSP00000379182:p.Asn226Lys		Somatic				RAE1_ENST00000371242.2_Missense_Mutation_p.N226K|RAE1_ENST00000527947.1_Missense_Mutation_p.N226K|RAE1_ENST00000395840.2_Missense_Mutation_p.N226K	p.N226K	NM_003610.3	NP_003601.1	WXS	Illumina GAIIx	Phase_I	P78406	RAE1L_HUMAN	BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)		9	1098	+	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		226					A8K882|O15306|Q3SYL7|Q5TCH8|Q6V708|Q9H100|Q9NQM6	Missense_Mutation	SNP	ENST00000395841.2	37	c.678C>G	CCDS13458.1	.	.	.	.	.	.	.	.	.	.	C	8.797	0.931995	0.18131	.	.	ENSG00000101146	ENST00000395841;ENST00000371242;ENST00000527947;ENST00000395840	T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48	6.02	2.75	0.32379	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.270986	0.47093	D	0.000249	T	0.26774	0.0655	N	0.00823	-1.155	0.46437	D	0.999044	P;B;B	0.40875	0.731;0.001;0.001	B;B;B	0.27262	0.078;0.0;0.0	T	0.52434	-0.8576	10	0.02654	T	1	-24.9704	9.7431	0.40431	0.0:0.7287:0.0:0.2713	.	226;226;226	E9PQ57;A8K882;P78406	.;.;RAE1L_HUMAN	K	226	ENSP00000379182:N226K;ENSP00000360286:N226K;ENSP00000432609:N226K;ENSP00000379181:N226K	ENSP00000360286:N226K	N	+	3	2	RAE1	55381973	1.000000	0.71417	1.000000	0.80357	0.243000	0.25628	1.694000	0.37752	0.893000	0.36288	-0.140000	0.14226	AAC		0.408	RAE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079842.2			24	176	24	176	---	---	---	---
CDH4	1002	broad.mit.edu	37	20	60504782	60504782	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr20:60504782A>T	ENST00000360469.5	+	13	2209	c.2121A>T	c.(2119-2121)aaA>aaT	p.K707N	CDH4_ENST00000543233.1_Missense_Mutation_p.K633N	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	707	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCATCATCAAAGTCAAGGTGT	0.592																																						ENST00000360469.5																			0				NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(2119-2121)aaA>aaT		cadherin 4, type 1, R-cadherin (retinal)							179.0	130.0	146.0					20																	60504782		2203	4300	6503	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60504782A>T	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.2121A>T	20.37:g.60504782A>T	ENSP00000353656:p.Lys707Asn		Somatic				CDH4_ENST00000543233.1_Missense_Mutation_p.K633N	p.K707N	NM_001794.3	NP_001785.2	WXS	Illumina GAIIx	Phase_I	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		13	2209	+			707			Cadherin 5.		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.2121A>T	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	A	16.28	3.079953	0.55753	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.60672	0.17;0.17	4.08	-3.76	0.04359	Cadherin (3);Cadherin-like (1);	0.121949	0.64402	D	0.000018	T	0.50769	0.1635	L	0.40543	1.245	0.41855	D	0.990196	P	0.52842	0.956	P	0.52424	0.698	T	0.52388	-0.8582	9	.	.	.	.	10.5319	0.44981	0.2217:0.0:0.6707:0.1076	.	707	P55283	CADH4_HUMAN	N	707;615;633	ENSP00000353656:K707N;ENSP00000443301:K633N	.	K	+	3	2	CDH4	59938177	0.015000	0.18098	0.996000	0.52242	0.930000	0.56654	-0.918000	0.04021	-0.430000	0.07318	-0.441000	0.05720	AAA		0.592	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		5	199	5	199	---	---	---	---
SRRD	402055	broad.mit.edu	37	22	26884148	26884148	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr22:26884148G>C	ENST00000215917.7	+	3	418	c.404G>C	c.(403-405)gGa>gCa	p.G135A		NM_001013694.2	NP_001013716.2	Q9UH36	SRR1L_HUMAN	SRR1 domain containing	135					rhythmic process (GO:0048511)			p.G135E(1)|p.G135A(1)		endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						TTGGTCACAGGAACCTGCCAT	0.468																																						ENST00000215917.7																			2	Substitution - Missense(2)	p.G135E(1)|p.G135A(1)	prostate(1)|endometrium(1)	endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(403-405)gGa>gCa		SRR1 domain containing							137.0	136.0	137.0					22																	26884148		2021	4207	6228	SO:0001583	missense	402055				rhythmic process			g.chr22:26884148G>C	BC066962	CCDS42995.1	22q12.1	2008-10-31			ENSG00000100104	ENSG00000100104			33910	protein-coding gene	gene with protein product	"""hepatocellular carcinoma complicating hemochromatosis"""	602254					Standard	NM_001013694		Approved	HC/HCC, SRR1L	uc010gve.3	Q9UH36	OTTHUMG00000150885	ENST00000215917.7:c.404G>C	22.37:g.26884148G>C	ENSP00000215917:p.Gly135Ala		Somatic					p.G135A	NM_001013694.2	NP_001013716.2	WXS	Illumina GAIIx	Phase_I	Q9UH36	SRR1L_HUMAN			3	418	+								Q6NXP8	Missense_Mutation	SNP	ENST00000215917.7	37	c.404G>C	CCDS42995.1	.	.	.	.	.	.	.	.	.	.	G	9.313	1.056099	0.19907	.	.	ENSG00000100104	ENST00000215917	T	0.47869	0.83	4.81	2.74	0.32292	.	1.094480	0.06964	N	0.816953	T	0.41003	0.1140	L	0.53249	1.67	0.09310	N	1	B;B	0.31581	0.329;0.329	B;B	0.28849	0.095;0.095	T	0.27739	-1.0065	10	0.22706	T	0.39	-2.6964	7.005	0.24831	0.202:0.0:0.798:0.0	.	135;128	Q9UH36;B4DF37	SRR1L_HUMAN;.	A	135	ENSP00000215917:G135A	ENSP00000215917:G135A	G	+	2	0	SRRD	25214148	0.001000	0.12720	0.000000	0.03702	0.030000	0.12068	0.787000	0.26858	0.633000	0.30452	0.655000	0.94253	GGA		0.468	SRRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320423.2	NM_001013694		52	210	52	210	---	---	---	---
LIMK2	3985	broad.mit.edu	37	22	31667167	31667167	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr22:31667167C>A	ENST00000331728.4	+	12	1477	c.1363C>A	c.(1363-1365)Cac>Aac	p.H455N	LIMK2_ENST00000444929.2_Missense_Mutation_p.H209N|LIMK2_ENST00000340552.4_Missense_Mutation_p.H434N|LIMK2_ENST00000406516.1_Missense_Mutation_p.H377N|LIMK2_ENST00000333611.4_Missense_Mutation_p.H434N	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	455	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.H455N(2)		endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						TCTGAACTCGCACAACTGCCT	0.542																																						ENST00000331728.4																			2	Substitution - Missense(2)	p.H455N(2)	prostate(2)	endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						c.(1363-1365)Cac>Aac		LIM domain kinase 2							186.0	141.0	157.0					22																	31667167		2203	4300	6503	SO:0001583	missense	3985					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding	g.chr22:31667167C>A	D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.1363C>A	22.37:g.31667167C>A	ENSP00000332687:p.His455Asn		Somatic				LIMK2_ENST00000444929.2_Missense_Mutation_p.H209N|LIMK2_ENST00000340552.4_Missense_Mutation_p.H434N|LIMK2_ENST00000333611.4_Missense_Mutation_p.H434N|LIMK2_ENST00000406516.1_Missense_Mutation_p.H377N	p.H455N	NM_005569.3	NP_005560.1	WXS	Illumina GAIIx	Phase_I	P53671	LIMK2_HUMAN			12	1477	+			455			Protein kinase.		A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Missense_Mutation	SNP	ENST00000331728.4	37	c.1363C>A	CCDS13891.1	.	.	.	.	.	.	.	.	.	.	.	15.57	2.871426	0.51695	.	.	ENSG00000182541	ENST00000406516;ENST00000444929;ENST00000331728;ENST00000436394;ENST00000333611;ENST00000340552	D;D;D;D;D	0.88664	-2.41;-1.59;-1.59;-1.59;-2.41	5.28	5.28	0.74379	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.050906	0.85682	D	0.000000	D	0.83468	0.5261	N	0.01576	-0.805	0.51012	D	0.999902	B;B;B;B;D	0.63880	0.026;0.1;0.016;0.033;0.993	B;B;B;B;P	0.58577	0.061;0.098;0.038;0.1;0.841	D	0.87391	0.2363	10	0.36615	T	0.2	-32.6636	17.9017	0.88906	0.0:1.0:0.0:0.0	.	487;434;209;455;377	F5GY29;Q7L3H5;E7EUC1;P53671;B5MC51	.;.;.;LIMK2_HUMAN;.	N	377;209;455;487;434;434	ENSP00000384602:H377N;ENSP00000409522:H209N;ENSP00000332687:H455N;ENSP00000330470:H434N;ENSP00000339916:H434N	ENSP00000332687:H455N	H	+	1	0	LIMK2	29997167	1.000000	0.71417	0.984000	0.44739	0.889000	0.51656	5.558000	0.67319	2.468000	0.83385	0.460000	0.39030	CAC		0.542	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321911.1	NM_016733		29	158	29	158	---	---	---	---
NLGN4X	57502	broad.mit.edu	37	X	5821237	5821237	+	Silent	SNP	G	G	C	rs146227486		TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chrX:5821237G>C	ENST00000381095.3	-	5	2109	c.1482C>G	c.(1480-1482)ccC>ccG	p.P494P	NLGN4X_ENST00000381092.1_Silent_p.P494P|NLGN4X_ENST00000275857.6_Silent_p.P494P|NLGN4X_ENST00000538097.1_Silent_p.P494P|NLGN4X_ENST00000381093.2_Silent_p.P514P	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	494					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)	p.P494P(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						CGAAGACATAGGGGACCTCAT	0.552																																						ENST00000381095.3																			1	Substitution - coding silent(1)	p.P494P(1)	prostate(1)	breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						c.(1480-1482)ccC>ccG		neuroligin 4, X-linked		G	,	0,3835		0,0,1632,571	97.0	80.0	86.0		1482,1482	2.9	0.6	X	dbSNP_134	86	1,6727		0,1,2427,1872	no	coding-synonymous,coding-synonymous	NLGN4X	NM_020742.2,NM_181332.1	,	0,1,4059,2443	CC,CG,GG,G		0.0149,0.0,0.0095	,	494/817,494/817	5821237	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	57502				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	g.chrX:5821237G>C	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.1482C>G	X.37:g.5821237G>C			Somatic				NLGN4X_ENST00000538097.1_Silent_p.P494P|NLGN4X_ENST00000381092.1_Silent_p.P494P|NLGN4X_ENST00000381093.2_Silent_p.P514P|NLGN4X_ENST00000275857.6_Silent_p.P494P	p.P494P	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	WXS	Illumina GAIIx	Phase_I	Q8N0W4	NLGNX_HUMAN			5	2109	-			494					Q6UX10|Q9ULG0	Silent	SNP	ENST00000381095.3	37	c.1482C>G	CCDS14126.1																																																																																				0.552	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		11	72	11	72	---	---	---	---
DMD	1756	broad.mit.edu	37	X	32380926	32380926	+	Silent	SNP	T	T	C			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chrX:32380926T>C	ENST00000357033.4	-	37	5510	c.5304A>G	c.(5302-5304)tcA>tcG	p.S1768S	DMD_ENST00000378677.2_Silent_p.S1764S	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1768	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TAATTCTGTGTGAAATGGCTG	0.478																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(5302-5304)tcA>tcG		dystrophin							196.0	152.0	167.0					X																	32380926		2202	4300	6502	SO:0001819	synonymous_variant	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32380926T>C	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.5304A>G	X.37:g.32380926T>C			Somatic				DMD_ENST00000378677.2_Silent_p.S1764S	p.S1768S	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	WXS	Illumina GAIIx	Phase_I	P11532	DMD_HUMAN			37	5510	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	1768			Interaction with SYNM (By similarity).		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	c.5304A>G	CCDS14233.1																																																																																				0.478	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		5	150	5	150	---	---	---	---
SLC20A1	6574	broad.mit.edu	37	2	113420507	113420507	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:113420507delA	ENST00000272542.3	+	11	2484	c.1945delA	c.(1945-1947)aacfs	p.N649fs		NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	649					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	high-affinity inorganic phosphate:sodium symporter activity (GO:0005316)|inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|sodium:phosphate symporter activity (GO:0005436)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						TCTCTTTCGTAACATTTTTAT	0.478																																						ENST00000272542.3																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						c.(1945-1947)aacfs		solute carrier family 20 (phosphate transporter), member 1							191.0	174.0	180.0					2																	113420507		2203	4300	6503	SO:0001589	frameshift_variant	6574				phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity	g.chr2:113420507delA		CCDS2099.1	2q13	2013-05-22			ENSG00000144136	ENSG00000144136		"""Solute carriers"""	10946	protein-coding gene	gene with protein product	"""gibbon ape leukemia virus receptor 1"""	137570		GLVR1		8041748	Standard	NM_005415		Approved	PiT-1, Glvr-1	uc002tib.3	Q8WUM9	OTTHUMG00000131317	ENST00000272542.3:c.1945delA	2.37:g.113420507delA	ENSP00000272542:p.Asn649fs		Somatic					p.N649fs	NM_005415.4	NP_005406.3	WXS	Illumina GAIIx	Phase_I	Q8WUM9	S20A1_HUMAN			11	2484	+			649					Q08344|Q6DHX8|Q9UQ82	Frame_Shift_Del	DEL	ENST00000272542.3	37	c.1945delA	CCDS2099.1																																																																																				0.478	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254086.2	NM_005415		37	238	37	238	---	---	---	---
HIST1H2BG	8339	broad.mit.edu	37	6	26216797	26216799	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr6:26216797_26216799delCTT	ENST00000244601.3	-	1	73_75	c.73_75delAAG	c.(73-75)aagdel	p.K25del	HIST1H2AE_ENST00000303910.2_5'Flank	NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	25					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				TCTTGCCATCCTTCTTCTGCGCC	0.517																																						ENST00000244601.3																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(73-75)aagdel		histone cluster 1, H2bg																																				SO:0001651	inframe_deletion	8339				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26216797_26216799delCTT	M60750	CCDS4594.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000187990	ENSG00000273802		"""Histones / Replication-dependent"""	4746	protein-coding gene	gene with protein product		602798	"""H2B histone family, member A"", ""histone 1, H2bg"""	H2BFA		1916825, 12408966	Standard	NM_003518		Approved	H2B/a, H2B.1A	uc003ngz.2	P62807	OTTHUMG00000014446	ENST00000244601.3:c.73_75delAAG	6.37:g.26216800_26216802delCTT	ENSP00000244601:p.Lys25del		Somatic					p.K25del	NM_003518.3	NP_003509.1	WXS	Illumina GAIIx	Phase_I	P62807	H2B1C_HUMAN			1	73_75	-		all_hematologic(11;0.196)	25					P02278|Q3B872|Q4VB69|Q93078|Q93080	In_Frame_Del	DEL	ENST00000244601.3	37	c.73_75delAAG	CCDS4594.1																																																																																				0.517	HIST1H2BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040109.2	NM_003518		9	352	9	352	---	---	---	---
TRPA1	8989	broad.mit.edu	37	8	72936093	72936099	+	Frame_Shift_Del	DEL	ATTTGGT	ATTTGGT	-			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr8:72936093_72936099delATTTGGT	ENST00000262209.4	-	26	3306_3312	c.3099_3105delACCAAAT	c.(3097-3105)ataccaaatfs	p.IPN1033fs	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	1033					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	ATTTATCAGCATTTGGTATTTCTTGTC	0.266																																						ENST00000262209.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98						c.(3097-3105)ataccaaatfs		transient receptor potential cation channel, subfamily A, member 1	Menthol(DB00825)																																			SO:0001589	frameshift_variant	8989					integral to plasma membrane		g.chr8:72936093_72936099delATTTGGT	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.3099_3105delACCAAAT	8.37:g.72936093_72936099delATTTGGT	ENSP00000262209:p.Ile1033fs		Somatic				RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron	p.IPN1033fs	NM_007332.2	NP_015628.2	WXS	Illumina GAIIx	Phase_I	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		26	3306_3312	-			1033					A6NIN6	Frame_Shift_Del	DEL	ENST00000262209.4	37	c.3099_3105delACCAAAT	CCDS34908.1																																																																																				0.266	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		11	109	11	109	---	---	---	---
ANGPT1	284	broad.mit.edu	37	8	108348408	108348408	+	De_novo_Start_InFrame	DEL	T	T	-			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr8:108348408delT	ENST00000520734.1	-	0	230				ANGPT1_ENST00000520052.1_De_novo_Start_InFrame			Q15389	ANGP1_HUMAN	angiopoietin 1						activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell-substrate adhesion (GO:0031589)|glomerulus vasculature development (GO:0072012)|hemopoiesis (GO:0030097)|heparin biosynthetic process (GO:0030210)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of vascular permeability (GO:0043116)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|protein localization to cell surface (GO:0034394)|regulation of satellite cell proliferation (GO:0014842)|sprouting angiogenesis (GO:0002040)|Tie signaling pathway (GO:0048014)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			CAAGATTTCATTTGTCTGTTG	0.363																																						ENST00000520734.1																			0				NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43								angiopoietin 1							134.0	123.0	127.0					8																	108348408		2203	4300	6503			284				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding	g.chr8:108348408delT	D13628	CCDS6306.1, CCDS56551.1	8q23.1	2013-02-06			ENSG00000154188	ENSG00000154188		"""Fibrinogen C domain containing"""	484	protein-coding gene	gene with protein product		601667				9545648	Standard	NM_001146		Approved	KIAA0003, Ang1	uc003ymn.3	Q15389	OTTHUMG00000164812		8.37:g.108348408delT			Somatic				ANGPT1_ENST00000520052.1_De_novo_Start_InFrame				WXS	Illumina GAIIx	Phase_I	Q15389	ANGP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)		0	230	-	Breast(1;5.06e-08)							Q5HYA0	Translation_Start_Site	DEL	ENST00000520734.1	37																																																																																						0.363	ANGPT1-002	PUTATIVE	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000380428.2	NM_001146, NM_139290		9	115	9	115	---	---	---	---
CHD3	1107	broad.mit.edu	37	17	7801306	7801307	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr17:7801306_7801307insT	ENST00000330494.7	+	12	2087_2088	c.1937_1938insT	c.(1936-1941)aattacfs	p.Y647fs	CHD3_ENST00000358181.4_Frame_Shift_Ins_p.Y647fs|CHD3_ENST00000380358.4_Frame_Shift_Ins_p.Y706fs	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	647	Chromo 2. {ECO:0000255|PROSITE- ProRule:PRU00053}.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				AAAAAGGGGAATTACCACTATC	0.45																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(2113-2118)aattacfs		chromodomain helicase DNA binding protein 3																																				SO:0001589	frameshift_variant	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7801306_7801307insT	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.1939dupT	17.37:g.7801308_7801308dupT	ENSP00000332628:p.Tyr647fs		Somatic				CHD3_ENST00000330494.7_Frame_Shift_Ins_p.Y647fs|CHD3_ENST00000358181.4_Frame_Shift_Ins_p.Y647fs	p.Y706fs	NM_001005271.2	NP_001005271.2	WXS	Illumina GAIIx	Phase_I	Q12873	CHD3_HUMAN			12	2115_2116	+		Prostate(122;0.202)	647					D3DTQ9|E9PG89|Q9Y4I0	Frame_Shift_Ins	INS	ENST00000330494.7	37	c.2114_2115insT	CCDS32554.1																																																																																				0.450	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		29	203	29	203	---	---	---	---
