#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CD5L	922	broad.mit.edu	37	1	157804497	157804497	+	Missense_Mutation	SNP	G	G	T			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr1:157804497G>T	ENST00000368174.4	-	4	514	c.418C>A	c.(418-420)Ctg>Atg	p.L140M	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	140	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)	p.L140L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCGTCAGCCAGCCTGACACCC	0.582																																						ENST00000368174.4																			1	Substitution - coding silent(1)	p.L140L(1)	lung(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52						c.(418-420)Ctg>Atg		CD5 molecule-like							73.0	75.0	75.0					1																	157804497		2203	4300	6503	SO:0001583	missense	922				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	g.chr1:157804497G>T	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"""apoptosis inhibitor 6"", ""CD5 antigen-like (scavenger receptor cysteine rich family)"""	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.418C>A	1.37:g.157804497G>T	ENSP00000357156:p.Leu140Met						p.L140M	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		4	514	-	all_hematologic(112;0.0378)		140			SRCR 2.		A8K7M5|Q6UX63	Missense_Mutation	SNP	ENST00000368174.4	37	c.418C>A	CCDS1171.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.233768	0.58886	.	.	ENSG00000073754	ENST00000368174	T	0.60299	0.2	4.82	3.91	0.45181	Speract/scavenger receptor (1);Speract/scavenger receptor-related (2);	0.000000	0.35124	N	0.003438	T	0.71230	0.3315	M	0.93939	3.475	0.30981	N	0.722529	D	0.89917	1.0	D	0.91635	0.999	T	0.71447	-0.4590	10	0.59425	D	0.04	.	7.2807	0.26310	0.1938:0.0:0.8062:0.0	.	140	O43866	CD5L_HUMAN	M	140	ENSP00000357156:L140M	ENSP00000357156:L140M	L	-	1	2	CD5L	156071121	0.960000	0.32886	0.036000	0.18154	0.057000	0.15508	1.398000	0.34554	1.253000	0.44018	0.563000	0.77884	CTG		0.582	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894		10	43	10	43	---	---	---	---
SLC19A2	10560	broad.mit.edu	37	1	169438005	169438005	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr1:169438005G>A	ENST00000236137.5	-	4	1336	c.1100C>T	c.(1099-1101)tCt>tTt	p.S367F	SLC19A2_ENST00000367804.4_Missense_Mutation_p.S166F	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	367					folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|thiamine transport (GO:0015888)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid transporter activity (GO:0008517)|thiamine transmembrane transporter activity (GO:0015234)|thiamine uptake transmembrane transporter activity (GO:0015403)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)				Thiamine(DB00152)	AGAAAAGAGAGATAATGTCAT	0.383																																						ENST00000236137.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11						c.(1099-1101)tCt>tTt		solute carrier family 19 (thiamine transporter), member 2							164.0	144.0	151.0					1																	169438005		2203	4300	6503	SO:0001583	missense	10560				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	g.chr1:169438005G>A	AF135488	CCDS1280.1	1q23.3	2013-05-22			ENSG00000117479	ENSG00000117479		"""Solute carriers"""	10938	protein-coding gene	gene with protein product		603941		TRMA		9399900, 10391221	Standard	NM_006996		Approved	THTR1	uc001gge.4	O60779	OTTHUMG00000035452	ENST00000236137.5:c.1100C>T	1.37:g.169438005G>A	ENSP00000236137:p.Ser367Phe					SLC19A2_ENST00000367804.4_Missense_Mutation_p.S166F	p.S367F	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN			4	1336	-	all_hematologic(923;0.208)		367					B2R9H0|B4E1X4|Q8WV87|Q9UBL7|Q9UKJ2|Q9UN31|Q9UN43	Missense_Mutation	SNP	ENST00000236137.5	37	c.1100C>T	CCDS1280.1	.	.	.	.	.	.	.	.	.	.	G	13.46	2.245308	0.39697	.	.	ENSG00000117479	ENST00000236137;ENST00000367804;ENST00000367802	T;T;T	0.80994	-1.44;-1.2;-1.44	5.58	4.66	0.58398	Major facilitator superfamily domain, general substrate transporter (1);	0.232641	0.45126	N	0.000399	T	0.56804	0.2010	L	0.28115	0.83	0.32702	N	0.512799	B;B	0.09022	0.002;0.001	B;B	0.13407	0.002;0.009	T	0.55829	-0.8079	9	0.44086	T	0.13	-8.5895	13.5565	0.61761	0.0758:0.0:0.9242:0.0	.	166;367	O60779-2;O60779	.;S19A2_HUMAN	F	367;166;329	ENSP00000236137:S367F;ENSP00000356778:S166F;ENSP00000356776:S329F	ENSP00000236137:S367F	S	-	2	0	SLC19A2	167704629	0.942000	0.31987	0.292000	0.24919	0.986000	0.74619	3.060000	0.49955	1.327000	0.45338	0.650000	0.86243	TCT		0.383	SLC19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086106.1	NM_006996		4	82	4	82	---	---	---	---
C2orf16	84226	broad.mit.edu	37	2	27802537	27802537	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr2:27802537C>T	ENST00000408964.2	+	1	3149	c.3098C>T	c.(3097-3099)tCc>tTc	p.S1033F	AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1033						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TCAGAGTCTTCCCTCAGCATA	0.453																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(3097-3099)tCc>tTc		chromosome 2 open reading frame 16							100.0	104.0	103.0					2																	27802537		2105	4247	6352	SO:0001583	missense	84226							g.chr2:27802537C>T	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.3098C>T	2.37:g.27802537C>T	ENSP00000386190:p.Ser1033Phe						p.S1033F	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	3149	+	Acute lymphoblastic leukemia(172;0.155)		1033					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.3098C>T	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	C	8.813	0.935658	0.18206	.	.	ENSG00000221843	ENST00000408964	T	0.09630	2.96	4.02	3.14	0.36123	.	.	.	.	.	T	0.07369	0.0186	L	0.27053	0.805	0.09310	N	1	P	0.35242	0.492	B	0.29663	0.105	T	0.26780	-1.0093	9	0.87932	D	0	.	7.7515	0.28901	0.0:0.8859:0.0:0.1141	.	1033	Q68DN1	CB016_HUMAN	F	1033	ENSP00000386190:S1033F	ENSP00000386190:S1033F	S	+	2	0	C2orf16	27656041	0.127000	0.22367	0.164000	0.22755	0.056000	0.15407	1.023000	0.30065	1.282000	0.44496	0.467000	0.42956	TCC		0.453	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		18	74	18	74	---	---	---	---
SF3B1	23451	broad.mit.edu	37	2	198266711	198266711	+	Missense_Mutation	SNP	T	T	C			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr2:198266711T>C	ENST00000335508.6	-	15	2312	c.2221A>G	c.(2221-2223)Aag>Gag	p.K741E	SF3B1_ENST00000462613.1_5'Flank|SNORA4_ENST00000365564.1_RNA	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	741					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GGATTTACCTTTCCTCTGTGT	0.353			Mis		myelodysplastic syndrome																																	ENST00000335508.6				Dom	yes		2	2q33.1	23451	Mis	"""splicing factor 3b, subunit 1, 155kDa"""			L			myelodysplastic syndrome		0				NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(2221-2223)Aag>Gag		splicing factor 3b, subunit 1, 155kDa							89.0	84.0	86.0					2																	198266711		2203	4300	6503	SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198266711T>C	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.2221A>G	2.37:g.198266711T>C	ENSP00000335321:p.Lys741Glu						p.K741E	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		15	2312	-								E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.2221A>G	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.949313	0.92660	.	.	ENSG00000115524	ENST00000335508	T	0.63580	-0.05	5.71	5.71	0.89125	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85544	0.5721	H	0.96175	3.78	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.90249	0.4292	10	0.87932	D	0	.	15.9781	0.80086	0.0:0.0:0.0:1.0	.	741	O75533	SF3B1_HUMAN	E	741	ENSP00000335321:K741E	ENSP00000335321:K741E	K	-	1	0	SF3B1	197974956	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.566000	0.82347	2.171000	0.68590	0.533000	0.62120	AAG		0.353	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			21	48	21	48	---	---	---	---
ADAMTS3	9508	broad.mit.edu	37	4	73186558	73186558	+	Silent	SNP	T	T	A			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr4:73186558T>A	ENST00000286657.4	-	7	1011	c.975A>T	c.(973-975)ccA>ccT	p.P325P	RP11-373J21.1_ENST00000503918.1_RNA	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	325	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGCTTCTGGATGGGTTTCCCC	0.438																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(973-975)ccA>ccT		ADAM metallopeptidase with thrombospondin type 1 motif, 3							138.0	130.0	133.0					4																	73186558		2203	4300	6503	SO:0001819	synonymous_variant	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73186558T>A	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.975A>T	4.37:g.73186558T>A							p.P325P	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		7	1011	-			325			Peptidase M12B.		A1L3U9|Q9BXZ8	Silent	SNP	ENST00000286657.4	37	c.975A>T	CCDS3553.1																																																																																				0.438	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			13	48	13	48	---	---	---	---
SLC25A27	9481	broad.mit.edu	37	6	46637938	46637938	+	Missense_Mutation	SNP	G	G	T			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr6:46637938G>T	ENST00000371347.5	+	7	1023	c.771G>T	c.(769-771)atG>atT	p.M257I	RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000422284.2_RNA|SLC25A27_ENST00000452689.2_Missense_Mutation_p.M171I|RP11-446F17.3_ENST00000571590.1_RNA|SLC25A27_ENST00000411689.2_Intron|SLC25A27_ENST00000604908.1_3'UTR	NM_001204051.1|NM_004277.4	NP_001190980.1|NP_004268.3	O95847	UCP4_HUMAN	solute carrier family 25, member 27	257					cellular triglyceride homeostasis (GO:0035356)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mitochondrial calcium ion concentration (GO:0051562)|negative regulation of mitochondrial membrane potential (GO:0010917)|neuron death (GO:0070997)|positive regulation of cell proliferation (GO:0008284)|regulation of glucose import (GO:0046324)|transport (GO:0006810)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)				central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1)	8			Lung(136;0.192)			GCAGAATAATGAATCAACCAC	0.348																																						ENST00000371347.5																			0				central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1)	8						c.(769-771)atG>atT		solute carrier family 25, member 27							75.0	71.0	72.0					6																	46637938		1827	4085	5912	SO:0001583	missense	9481				generation of precursor metabolites and energy|transport	integral to membrane|mitochondrial inner membrane		g.chr6:46637938G>T	AK090871	CCDS43470.1, CCDS56431.1	6p12.3	2013-05-22			ENSG00000153291	ENSG00000153291		"""Solute carriers"""	21065	protein-coding gene	gene with protein product		613725				10025957, 10772343	Standard	NM_004277		Approved	UCP4, FLJ33552	uc003oyh.3	O95847	OTTHUMG00000014786	ENST00000371347.5:c.771G>T	6.37:g.46637938G>T	ENSP00000360398:p.Met257Ile					SLC25A27_ENST00000452689.2_Missense_Mutation_p.M171I|SLC25A27_ENST00000411689.2_Intron|SLC25A27_ENST00000604908.1_3'UTR	p.M257I	NM_001204051.1|NM_004277.4	NP_001190980.1|NP_004268.3	O95847	UCP4_HUMAN	Lung(136;0.192)		7	1023	+			257					F5GWR4|Q5VTS9|Q8N518	Missense_Mutation	SNP	ENST00000371347.5	37	c.771G>T	CCDS43470.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	27.9|27.9|27.9	4.869822|4.869822|4.869822	0.91587|0.91587|0.91587	.|.|.	.|.|.	ENSG00000153291|ENSG00000153291|ENSG00000153291	ENST00000444329|ENST00000371347;ENST00000355073;ENST00000452689|ENST00000417490	.|T;T|.	.|0.78816|.	.|-1.21;-1.21|.	5.72|5.72|5.72	5.72|5.72|5.72	0.89469|0.89469|0.89469	.|Mitochondrial carrier domain (2);|.	.|0.097175|.	.|0.64402|.	.|D|.	.|0.000003|.	.|D|.	.|0.83403|.	.|0.5247|.	M|M|M	0.91510|0.91510|0.91510	3.215|3.215|3.215	0.58432|0.58432|0.58432	D|D|D	0.999999|0.999999|0.999999	.|D;D;D|.	.|0.89917|.	.|1.0;1.0;1.0|.	.|D;D;D|.	.|0.97110|.	.|0.999;1.0;1.0|.	.|D|.	.|0.86424|.	.|0.1756|.	.|10|.	.|0.66056|.	.|D|.	.|0.02|.	-19.7912|-19.7912|-19.7912	17.3513|17.3513|17.3513	0.87324|0.87324|0.87324	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|171;257;257|.	.|B4DZG4;Q5VTS9;O95847|.	.|.;.;UCP4_HUMAN|.	X|I|L	102|257;101;171|55	.|ENSP00000360398:M257I;ENSP00000412223:M171I|.	.|ENSP00000347185:M101I|.	E|M|X	+|+|+	1|3|2	0|0|2	SLC25A27|SLC25A27|SLC25A27	46745897|46745897|46745897	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	7.017000|7.017000|7.017000	0.76399|0.76399|0.76399	2.698000|2.698000|2.698000	0.92095|0.92095|0.92095	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAA|ATG|TGA		0.348	SLC25A27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040791.1	NM_004277		4	58	4	58	---	---	---	---
GSTA2	2939	broad.mit.edu	37	6	52619834	52619834	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr6:52619834A>G	ENST00000493422.1	-	4	334	c.179T>C	c.(178-180)aTt>aCt	p.I60T		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	60	GST N-terminal.				epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Chloroquine(DB00608)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Vitamin E(DB00163)	CATCCCATCAATCTCAACCAT	0.428																																						ENST00000493422.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(178-180)aTt>aCt		glutathione S-transferase alpha 2	Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)						124.0	123.0	124.0					6																	52619834		2203	4298	6501	SO:0001583	missense	2939				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52619834A>G	AL109918	CCDS4944.1	6p12.2	2012-06-21	2008-11-26		ENSG00000244067	ENSG00000244067	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4627	protein-coding gene	gene with protein product		138360	"""glutathione S-transferase A2"""	GST2			Standard	NM_000846		Approved		uc003pay.3	P09210	OTTHUMG00000016263	ENST00000493422.1:c.179T>C	6.37:g.52619834A>G	ENSP00000420168:p.Ile60Thr						p.I60T	NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN			4	334	-	Lung NSC(77;0.118)		60			GST N-terminal.		Q12759|Q16491|Q9NTY6	Missense_Mutation	SNP	ENST00000493422.1	37	c.179T>C	CCDS4944.1	.	.	.	.	.	.	.	.	.	.	a	17.17	3.322239	0.60634	.	.	ENSG00000244067	ENST00000493422	T	0.07327	3.2	3.64	3.64	0.41730	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.23727	0.0574	M	0.85945	2.785	0.53005	D	0.999968	P	0.35774	0.519	D	0.67231	0.95	T	0.00448	-1.1733	10	0.66056	D	0.02	.	11.322	0.49428	1.0:0.0:0.0:0.0	.	60	P09210	GSTA2_HUMAN	T	60	ENSP00000420168:I60T	ENSP00000420168:I60T	I	-	2	0	GSTA2	52727793	1.000000	0.71417	0.997000	0.53966	0.846000	0.48090	8.301000	0.89951	1.310000	0.45006	0.254000	0.18369	ATT		0.428	GSTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043589.1	NM_000846		10	182	10	182	---	---	---	---
PLOD3	8985	broad.mit.edu	37	7	100859736	100859736	+	Missense_Mutation	SNP	T	T	C			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr7:100859736T>C	ENST00000223127.3	-	3	691	c.293A>G	c.(292-294)gAg>gGg	p.E98G	ZNHIT1_ENST00000305105.2_5'Flank	NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	98					basement membrane assembly (GO:0070831)|cellular protein modification process (GO:0006464)|cellular response to hormone stimulus (GO:0032870)|collagen fibril organization (GO:0030199)|endothelial cell morphogenesis (GO:0001886)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|lung morphogenesis (GO:0060425)|neural tube development (GO:0021915)|protein localization (GO:0008104)|vasodilation (GO:0042311)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen galactosyltransferase activity (GO:0050211)|procollagen glucosyltransferase activity (GO:0033823)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	AGCGTATTTCTCCATTTCCTT	0.567																																						ENST00000223127.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31						c.(292-294)gAg>gGg		procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	Succinic acid(DB00139)|Vitamin C(DB00126)						205.0	187.0	193.0					7																	100859736		2203	4300	6503	SO:0001583	missense	8985				protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	g.chr7:100859736T>C	AF046889	CCDS5715.1	7q22.1	2011-08-24			ENSG00000106397	ENSG00000106397	1.14.11.4		9083	protein-coding gene	gene with protein product	"""lysyl hydroxlase 3"""	603066				9724729, 9582318	Standard	NM_001084		Approved	LH3	uc003uyd.3	O60568	OTTHUMG00000157111	ENST00000223127.3:c.293A>G	7.37:g.100859736T>C	ENSP00000223127:p.Glu98Gly						p.E98G	NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN			3	691	-	Lung NSC(181;0.168)|all_lung(186;0.215)		98					B2R6W6|Q540C3	Missense_Mutation	SNP	ENST00000223127.3	37	c.293A>G	CCDS5715.1	.	.	.	.	.	.	.	.	.	.	T	16.27	3.075800	0.55646	.	.	ENSG00000106397	ENST00000223127;ENST00000541462;ENST00000414785	T;T	0.26067	1.76;1.76	5.17	3.99	0.46301	.	0.550372	0.18532	N	0.138446	T	0.25344	0.0616	L	0.58428	1.81	0.42137	D	0.991499	B	0.14012	0.009	B	0.15484	0.013	T	0.05419	-1.0886	10	0.66056	D	0.02	-22.6964	8.172	0.31260	0.1785:0.0:0.0:0.8215	.	98	O60568	PLOD3_HUMAN	G	98;2;102	ENSP00000223127:E98G;ENSP00000407551:E102G	ENSP00000223127:E98G	E	-	2	0	PLOD3	100646456	0.999000	0.42202	0.991000	0.47740	0.401000	0.30781	1.511000	0.35801	0.791000	0.33826	0.402000	0.26972	GAG		0.567	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347470.1			11	38	11	38	---	---	---	---
OR56A3	390083	broad.mit.edu	37	11	5969418	5969418	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr11:5969418A>G	ENST00000329564.6	+	1	849	c.842A>G	c.(841-843)aAt>aGt	p.N281S		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	281						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTCTTGCTCAATGTTCTCCAC	0.478																																						ENST00000329564.6																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(841-843)aAt>aGt		olfactory receptor, family 56, subfamily A, member 3							176.0	167.0	170.0					11																	5969418		2147	4269	6416	SO:0001583	missense	390083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5969418A>G		CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"""GPCR / Class A : Olfactory receptors"""	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.842A>G	11.37:g.5969418A>G	ENSP00000331572:p.Asn281Ser						p.N281S	NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	849	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	281					A6NN77|Q6IFF7	Missense_Mutation	SNP	ENST00000329564.6	37	c.842A>G	CCDS41614.1	.	.	.	.	.	.	.	.	.	.	A	14.53	2.562963	0.45694	.	.	ENSG00000184478	ENST00000329564	T	0.00016	9.12	5.06	5.06	0.68205	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000010	T	0.00241	0.0007	L	0.37507	1.11	0.29676	N	0.842114	D	0.89917	1.0	D	0.91635	0.999	T	0.60383	-0.7274	10	0.87932	D	0	-29.8695	10.1284	0.42663	0.8321:0.1679:0.0:0.0	.	281	Q8NH54	O56A3_HUMAN	S	281	ENSP00000331572:N281S	ENSP00000331572:N281S	N	+	2	0	OR56A3	5925994	0.103000	0.21917	0.997000	0.53966	0.685000	0.39939	1.990000	0.40717	2.159000	0.67721	0.514000	0.50259	AAT		0.478	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383753.1	NM_001003443		27	93	27	93	---	---	---	---
ARNTL2	56938	broad.mit.edu	37	12	27553667	27553667	+	Missense_Mutation	SNP	C	C	G	rs543030579		TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr12:27553667C>G	ENST00000266503.5	+	10	1138	c.1120C>G	c.(1120-1122)Cgg>Ggg	p.R374G	RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000546179.1_Missense_Mutation_p.R337G|ARNTL2_ENST00000542388.1_Missense_Mutation_p.R289G|ARNTL2_ENST00000395901.2_Missense_Mutation_p.R337G|ARNTL2_ENST00000311001.5_Missense_Mutation_p.R360G|ARNTL2_ENST00000544915.1_Missense_Mutation_p.R340G|ARNTL2_ENST00000261178.5_Missense_Mutation_p.R326G			Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	374	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					ATTTATAACCCGGTTTGCAGT	0.343																																						ENST00000544915.1																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(1018-1020)Cgg>Ggg		aryl hydrocarbon receptor nuclear translocator-like 2							86.0	91.0	89.0					12																	27553667		2203	4300	6503	SO:0001583	missense	56938				circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:27553667C>G	AF246961	CCDS8712.1, CCDS58219.1, CCDS58220.1, CCDS58221.1, CCDS58222.1	12p12.2-p11.2	2013-05-21			ENSG00000029153	ENSG00000029153		"""Basic helix-loop-helix proteins"""	18984	protein-coding gene	gene with protein product		614517				10864977, 10964693	Standard	NM_020183		Approved	BMAL2, MOP9, CLIF, PASD9, bHLHe6	uc001rht.2	Q8WYA1	OTTHUMG00000169257	ENST00000266503.5:c.1120C>G	12.37:g.27553667C>G	ENSP00000266503:p.Arg374Gly					ARNTL2_ENST00000395901.2_Missense_Mutation_p.R337G|RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000311001.5_Missense_Mutation_p.R360G|ARNTL2_ENST00000542388.1_Missense_Mutation_p.R289G|ARNTL2_ENST00000266503.5_Missense_Mutation_p.R374G|ARNTL2_ENST00000546179.1_Missense_Mutation_p.R337G|ARNTL2_ENST00000261178.5_Missense_Mutation_p.R326G	p.R340G	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN			9	1237	+	Colorectal(261;0.0847)|Lung SC(9;0.184)		374		N -> S (in dbSNP:rs1037921).			B7Z429|F5H402|Q8WYA2|Q8WYA3|Q8WYA4|Q96J63|Q9H2M4|Q9NS70|Q9NYQ4|Q9NYQ5	Missense_Mutation	SNP	ENST00000266503.5	37	c.1018C>G	CCDS8712.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310778	0.60414	.	.	ENSG00000029153	ENST00000544915;ENST00000395901;ENST00000546179;ENST00000311001;ENST00000261178;ENST00000266503;ENST00000542388	T;T;T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98;1.98;1.98	4.05	3.13	0.36017	PAS (2);	0.000000	0.85682	D	0.000000	T	0.59018	0.2163	H	0.96604	3.85	0.53688	D	0.999979	D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;1.0;0.999	D;D;D;D;D;D	0.97110	0.992;0.996;0.992;0.992;1.0;0.995	T	0.73531	-0.3953	10	0.87932	D	0	.	13.1394	0.59426	0.1613:0.8387:0.0:0.0	.	337;340;337;326;360;374	F5H402;Q8WYA1-5;Q8WYA1-3;Q8WYA1-4;Q8WYA1-2;Q8WYA1	.;.;.;.;.;BMAL2_HUMAN	G	340;337;337;360;326;374;289	ENSP00000442438:R340G;ENSP00000379238:R337G;ENSP00000438545:R337G;ENSP00000312247:R360G;ENSP00000261178:R326G;ENSP00000266503:R374G;ENSP00000445836:R289G	ENSP00000261178:R326G	R	+	1	2	ARNTL2	27444934	0.975000	0.34042	0.995000	0.50966	0.993000	0.82548	2.412000	0.44609	1.016000	0.39470	0.655000	0.94253	CGG		0.343	ARNTL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403162.1	NM_020183		15	62	15	62	---	---	---	---
KTN1	3895	broad.mit.edu	37	14	56079014	56079014	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr14:56079014A>G	ENST00000395314.3	+	2	316	c.248A>G	c.(247-249)gAc>gGc	p.D83G	KTN1_ENST00000413890.2_Missense_Mutation_p.D83G|KTN1_ENST00000438792.2_Missense_Mutation_p.D83G|KTN1_ENST00000395309.3_Missense_Mutation_p.D83G|KTN1_ENST00000395308.1_Missense_Mutation_p.D83G|KTN1_ENST00000416613.1_Missense_Mutation_p.D83G|KTN1_ENST00000395311.1_Missense_Mutation_p.D83G	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	83					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						GTACCTCGAGACTTTAAATTA	0.358			T	RET	papillary thryoid																																	ENST00000416613.1				Dom	yes		14	14q22.1	3895	T	kinectin 1 (kinesin receptor)			E	RET		papillary thryoid		0				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						c.(247-249)gAc>gGc		kinectin 1 (kinesin receptor)							77.0	82.0	80.0					14																	56079014		2203	4300	6503	SO:0001583	missense	3895				microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction		g.chr14:56079014A>G		CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.248A>G	14.37:g.56079014A>G	ENSP00000378725:p.Asp83Gly					KTN1_ENST00000395314.3_Missense_Mutation_p.D83G|KTN1_ENST00000395311.1_Missense_Mutation_p.D83G|KTN1_ENST00000413890.2_Missense_Mutation_p.D83G|KTN1_ENST00000395308.1_Missense_Mutation_p.D83G|KTN1_ENST00000395309.3_Missense_Mutation_p.D83G|KTN1_ENST00000438792.2_Missense_Mutation_p.D83G	p.D83G			Q86UP2	KTN1_HUMAN			1	320	+			83					B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Missense_Mutation	SNP	ENST00000395314.3	37	c.248A>G	CCDS41957.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.469117	0.84533	.	.	ENSG00000126777	ENST00000413890;ENST00000395309;ENST00000438792;ENST00000395314;ENST00000395308;ENST00000395311;ENST00000416613	D;D;D;D;D;D;D	0.98978	-5.29;-5.29;-5.29;-5.29;-5.29;-5.29;-5.29	5.63	5.63	0.86233	.	0.107276	0.41001	D	0.000968	D	0.98792	0.9593	L	0.53249	1.67	0.58432	D	0.999999	D;D;D;D	0.61697	0.981;0.99;0.981;0.981	P;P;P;P	0.61275	0.886;0.886;0.886;0.886	D	0.99698	1.1003	10	0.51188	T	0.08	-12.1296	15.8388	0.78824	1.0:0.0:0.0:0.0	.	83;83;83;83	B4DZ88;Q86UP2-2;Q17RZ5;Q86UP2	.;.;.;KTN1_HUMAN	G	83	ENSP00000394992:D83G;ENSP00000378720:D83G;ENSP00000391964:D83G;ENSP00000378725:D83G;ENSP00000378719:D83G;ENSP00000378722:D83G;ENSP00000388807:D83G	ENSP00000378719:D83G	D	+	2	0	KTN1	55148767	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.303000	0.89955	2.137000	0.66172	0.482000	0.46254	GAC		0.358	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276912.2			14	53	14	53	---	---	---	---
TELO2	9894	broad.mit.edu	37	16	1556991	1556991	+	Missense_Mutation	SNP	T	T	C			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr16:1556991T>C	ENST00000262319.6	+	18	2444	c.2165T>C	c.(2164-2166)cTg>cCg	p.L722P		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	722					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				GAAGACCAGCTGGTTCTCGGA	0.652																																						ENST00000262319.6																			0				NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(2164-2166)cTg>cCg		telomere maintenance 2							64.0	49.0	54.0					16																	1556991		2199	4300	6499	SO:0001583	missense	9894					chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding	g.chr16:1556991T>C	AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"""TEL2, telomere maintenance 2, homolog (S. cerevisiae)"""			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.2165T>C	16.37:g.1556991T>C	ENSP00000262319:p.Leu722Pro						p.L722P	NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN			18	2444	+		Hepatocellular(780;0.219)	722					D3DU73|O75168|Q7LDV4|Q9BR21	Missense_Mutation	SNP	ENST00000262319.6	37	c.2165T>C	CCDS32363.1	.	.	.	.	.	.	.	.	.	.	T	18.08	3.544503	0.65198	.	.	ENSG00000100726	ENST00000437914;ENST00000262319	T	0.17370	2.28	4.62	4.62	0.57501	.	0.067015	0.56097	D	0.000027	T	0.38983	0.1061	M	0.71206	2.165	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.12967	-1.0527	10	0.39692	T	0.17	-17.7371	13.132	0.59389	0.0:0.0:0.0:1.0	.	722	Q9Y4R8	TELO2_HUMAN	P	245;722	ENSP00000262319:L722P	ENSP00000262319:L722P	L	+	2	0	TELO2	1496992	1.000000	0.71417	0.976000	0.42696	0.709000	0.40893	4.795000	0.62489	1.962000	0.57031	0.379000	0.24179	CTG		0.652	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103602.2	NM_016111		4	9	4	9	---	---	---	---
GPR142	350383	broad.mit.edu	37	17	72363725	72363725	+	Silent	SNP	T	T	C			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr17:72363725T>C	ENST00000335666.4	+	1	129	c.81T>C	c.(79-81)ggT>ggC	p.G27G		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	27						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CTGTCCTGGGTACAGAAGCAT	0.507																																						ENST00000335666.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						c.(79-81)ggT>ggC		G protein-coupled receptor 142							117.0	98.0	105.0					17																	72363725		2203	4300	6503	SO:0001819	synonymous_variant	350383					cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	g.chr17:72363725T>C	AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"""GPCR / Class A : Orphans"""	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.81T>C	17.37:g.72363725T>C							p.G27G	NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN			1	129	+			27					A4CYJ8|Q86SL3	Silent	SNP	ENST00000335666.4	37	c.81T>C	CCDS11698.1																																																																																				0.507	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442545.1	NM_181790		12	40	12	40	---	---	---	---
ICT1	3396	broad.mit.edu	37	17	73016712	73016712	+	Missense_Mutation	SNP	A	A	C			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr17:73016712A>C	ENST00000301585.5	+	5	509	c.496A>C	c.(496-498)Aag>Cag	p.K166Q		NM_001545.1	NP_001536.1	Q14197	ICT1_HUMAN	immature colon carcinoma transcript 1	166					mitochondrial translational termination (GO:0070126)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	aminoacyl-tRNA hydrolase activity (GO:0004045)|translation release factor activity, codon nonspecific (GO:0016150)			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1)	6	all_lung(278;0.226)					CCAGACACCGAAGGAGCCAAC	0.468																																						ENST00000301585.5																			0				NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1)	6						c.(496-498)Aag>Cag		immature colon carcinoma transcript 1							68.0	68.0	68.0					17																	73016712		2203	4300	6503	SO:0001583	missense	3396				mitochondrial translational termination	mitochondrial large ribosomal subunit	aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific	g.chr17:73016712A>C	X81788	CCDS11711.1	17q25	2014-02-12				ENSG00000167862			5359	protein-coding gene	gene with protein product		603000				8575443, 20186120	Standard	NM_001545		Approved	DS-1	uc002jmm.3	Q14197		ENST00000301585.5:c.496A>C	17.37:g.73016712A>C	ENSP00000301585:p.Lys166Gln						p.K166Q	NM_001545.1	NP_001536.1	Q14197	ICT1_HUMAN			5	509	+	all_lung(278;0.226)		166					B2RAD1|Q53HM7|Q53Y11	Missense_Mutation	SNP	ENST00000301585.5	37	c.496A>C	CCDS11711.1	.	.	.	.	.	.	.	.	.	.	A	10.95	1.496392	0.26861	.	.	ENSG00000167862	ENST00000301585	T	0.18502	2.21	5.77	3.53	0.40419	Peptide chain release factor class I/class II (1);	0.669069	0.16209	N	0.224568	T	0.22898	0.0553	M	0.61703	1.905	0.36004	D	0.837573	B	0.32717	0.381	B	0.40901	0.343	T	0.10567	-1.0624	10	0.46703	T	0.11	-5.1496	8.0776	0.30726	0.7761:0.0:0.2239:0.0	.	166	Q14197	ICT1_HUMAN	Q	166	ENSP00000301585:K166Q	ENSP00000301585:K166Q	K	+	1	0	ICT1	70528307	0.001000	0.12720	0.191000	0.23289	0.839000	0.47603	1.426000	0.34870	0.444000	0.26612	0.459000	0.35465	AAG		0.468	ICT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445314.1	NM_001545		3	56	3	56	---	---	---	---
HOOK2	29911	broad.mit.edu	37	19	12875684	12875684	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr19:12875684C>T	ENST00000397668.3	-	20	1844	c.1771G>A	c.(1771-1773)Gcg>Acg	p.A591T	HOOK2_ENST00000589965.1_5'Flank|HOOK2_ENST00000264827.5_Missense_Mutation_p.A589T	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	591	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with CNTRL.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						CGCAAGTCCGCGTCCTTCTTC	0.647											OREG0025273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000264827.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						c.(1765-1767)Gcg>Acg		hook microtubule-tethering protein 2							81.0	85.0	84.0					19																	12875684		2044	4183	6227	SO:0001583	missense	29911				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding	g.chr19:12875684C>T	AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"""hook homolog 2 (Drosophila)"""			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.1771G>A	19.37:g.12875684C>T	ENSP00000380785:p.Ala591Thr		OREG0025273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	683	HOOK2_ENST00000397668.3_Missense_Mutation_p.A591T	p.A589T	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN			19	1935	-			591			Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with CEP110.		O60562	Missense_Mutation	SNP	ENST00000397668.3	37	c.1765G>A	CCDS42508.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.939365	0.73557	.	.	ENSG00000095066	ENST00000397668;ENST00000264827	T;T	0.17691	2.26;2.26	5.11	5.11	0.69529	.	0.178973	0.45361	D	0.000361	T	0.18964	0.0455	L	0.47716	1.5	0.41734	D	0.989575	P;P	0.45176	0.821;0.852	B;B	0.40165	0.215;0.321	T	0.01914	-1.1248	10	0.41790	T	0.15	-10.5963	17.3409	0.87296	0.0:1.0:0.0:0.0	.	589;591	Q96ED9-2;Q96ED9	.;HOOK2_HUMAN	T	591;589	ENSP00000380785:A591T;ENSP00000264827:A589T	ENSP00000264827:A589T	A	-	1	0	HOOK2	12736684	1.000000	0.71417	0.089000	0.20774	0.285000	0.27093	6.450000	0.73477	2.386000	0.81285	0.650000	0.86243	GCG		0.647	HOOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451008.1	NM_013312		7	104	7	104	---	---	---	---
ZNF155	7711	broad.mit.edu	37	19	44495748	44495748	+	Missense_Mutation	SNP	C	C	G			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr19:44495748C>G	ENST00000270014.2	+	3	192	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V	ZNF155_ENST00000407951.2_Missense_Mutation_p.L33V|ZNF155_ENST00000590615.1_Missense_Mutation_p.L22V	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	Q12901	ZN155_HUMAN	zinc finger protein 155	22	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				TGAGGAGGAGCTGGGGCTGCT	0.532																																					NSCLC(61;554 1277 20909 42067 42312)	ENST00000270014.2																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15						c.(64-66)Ctg>Gtg		zinc finger protein 155							239.0	221.0	227.0					19																	44495748		2203	4297	6500	SO:0001583	missense	7711					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:44495748C>G	U09852	CCDS12634.1, CCDS58668.1	19q13.2-q13.32	2013-01-08	2006-08-22			ENSG00000204920		"""Zinc fingers, C2H2-type"", ""-"""	12940	protein-coding gene	gene with protein product		604086	"""zinc finger protein 155 (pHZ-96)"""			7557990	Standard	NM_001260486		Approved	pHZ-96	uc010xwt.2	Q12901		ENST00000270014.2:c.64C>G	19.37:g.44495748C>G	ENSP00000270014:p.Leu22Val					ZNF155_ENST00000407951.2_Missense_Mutation_p.L33V|ZNF155_ENST00000590615.1_Missense_Mutation_p.L22V	p.L22V	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	Q12901	ZN155_HUMAN			3	192	+		Prostate(69;0.0352)	22			KRAB.		A2BDE6|B2RB63|B4DM95|J3KQ08|Q6AZZ8|Q9UIE1|Q9UK14	Missense_Mutation	SNP	ENST00000270014.2	37	c.64C>G	CCDS12634.1	.	.	.	.	.	.	.	.	.	.	c	13.84	2.356298	0.41700	.	.	ENSG00000204920	ENST00000407951;ENST00000270014	T;T	0.01787	4.64;4.64	1.64	1.64	0.23874	Krueppel-associated box (4);	.	.	.	.	T	0.06508	0.0167	M	0.68317	2.08	0.23546	N	0.997442	D;D	0.89917	0.999;1.0	D;D	0.91635	0.999;0.996	T	0.30475	-0.9977	9	0.87932	D	0	.	3.5586	0.07873	0.0:0.6202:0.0:0.3798	.	33;22	B4DM95;Q12901	.;ZN155_HUMAN	V	33;22	ENSP00000385163:L33V;ENSP00000270014:L22V	ENSP00000270014:L22V	L	+	1	2	ZNF155	49187588	0.980000	0.34600	1.000000	0.80357	0.940000	0.58332	-0.002000	0.12924	1.202000	0.43218	0.462000	0.41574	CTG		0.532	ZNF155-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460074.1	NM_003445		5	178	5	178	---	---	---	---
CCNI	10983	broad.mit.edu	37	4	77969728	77969728	+	Frame_Shift_Del	DEL	A	A	-			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr4:77969728delA	ENST00000237654.4	-	7	1354	c.778delT	c.(778-780)tatfs	p.Y260fs	CCNI_ENST00000537948.1_Frame_Shift_Del_p.Y246fs	NM_006835.2	NP_006826.1	Q14094	CCNI_HUMAN	cyclin I	260					regulation of cell cycle (GO:0051726)|spermatogenesis (GO:0007283)					NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						CGGTAGACATAAACGGAATTC	0.527																																						ENST00000237654.4																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						c.(778-780)tatfs		cyclin I							91.0	84.0	86.0					4																	77969728		2203	4300	6503	SO:0001589	frameshift_variant	10983				spermatogenesis			g.chr4:77969728delA	D50310	CCDS3580.1	4q21.1	2014-07-03			ENSG00000118816	ENSG00000118816			1595	protein-coding gene	gene with protein product						7493655	Standard	NM_006835		Approved	CCNI1	uc003hkm.3	Q14094	OTTHUMG00000130106	ENST00000237654.4:c.778delT	4.37:g.77969728delA	ENSP00000237654:p.Tyr260fs					CCNI_ENST00000537948.1_Frame_Shift_Del_p.Y246fs	p.Y260fs	NM_006835.2	NP_006826.1	Q14094	CCNI_HUMAN			7	1354	-			260					B2R6M0|B7Z6X4	Frame_Shift_Del	DEL	ENST00000237654.4	37	c.778delT	CCDS3580.1																																																																																				0.527	CCNI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252412.2	NM_006835		9	54	9	54	---	---	---	---
LIFR	3977	broad.mit.edu	37	5	38482128	38482129	+	Frame_Shift_Ins	INS	-	-	A			TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr5:38482128_38482129insA	ENST00000263409.4	-	20	3024_3025	c.2862_2863insT	c.(2860-2865)attgagfs	p.E955fs	LIFR_ENST00000453190.2_Frame_Shift_Ins_p.E955fs	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	955					cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					ATTTCTTCCTCAATGATGGGTG	0.46			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	ENST00000263409.4				Dom	yes		5	5p13-p12	3977	T	leukemia inhibitory factor receptor			E	PLAG1		salivary adenoma		0				NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78						c.(2860-2865)attgagfs		leukemia inhibitory factor receptor alpha																																				SO:0001589	frameshift_variant	3977				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	g.chr5:38482128_38482129insA	X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.2863dupT	5.37:g.38482130_38482130dupA	ENSP00000263409:p.Glu955fs					LIFR_ENST00000453190.2_Frame_Shift_Ins_p.E955fs	p.E955fs	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN			20	3024_3025	-	all_lung(31;0.00021)		955					Q6LCD9	Frame_Shift_Ins	INS	ENST00000263409.4	37	c.2862_2863insT	CCDS3927.1																																																																																				0.460	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		7	162	7	162	---	---	---	---
ILF3	3609	broad.mit.edu	37	19	10781285	10781286	+	Splice_Site	INS	-	-	T	rs111709385		TCGA-VP-A87C-01A-11D-A34U-08	TCGA-VP-A87C-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9a3cde7-512a-4a9a-ba0c-3f630f015fb3	d76bd858-d1bd-40a1-9abf-4015860fd89b	g.chr19:10781285_10781286insT	ENST00000590261.1	+	1	3		c.e1+1		ILF3_ENST00000588657.1_Splice_Site|ILF3_ENST00000250241.8_Splice_Site|ILF3_ENST00000589998.1_Splice_Site|ILF3_ENST00000592763.1_Splice_Site|ILF3_ENST00000449870.1_Splice_Site|ILF3_ENST00000318511.3_Splice_Site|ILF3_ENST00000420083.1_Splice_Site|ILF3_ENST00000407004.3_Splice_Site			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa						defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			AGTAAAAATGGTAAGTTTGTTT	0.332																																						ENST00000449870.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.e2+1		interleukin enhancer binding factor 3, 90kDa																																				SO:0001630	splice_region_variant	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding	g.chr19:10781285_10781286insT	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.3+1->T	19.37:g.10781286_10781286dupT						ILF3_ENST00000407004.3_Splice_Site|ILF3_ENST00000588657.1_Splice_Site|ILF3_ENST00000250241.8_Splice_Site|ILF3_ENST00000589998.1_Splice_Site|ILF3_ENST00000420083.1_Splice_Site|ILF3_ENST00000590261.1_Splice_Site|ILF3_ENST00000318511.3_Splice_Site|ILF3_ENST00000592763.1_Splice_Site		NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		2	320	+								A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Splice_Site	INS	ENST00000590261.1	37		CCDS12246.1																																																																																				0.332	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1		Intron	9	52	9	52	---	---	---	---
