#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
ETV3L	440695	broad.mit.edu	37	1	157062700	157062700	+	Missense_Mutation	SNP	C	C	T			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr1:157062700C>T	ENST00000454449.2	-	5	1111	c.827G>A	c.(826-828)aGc>aAc	p.S276N		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	276	Pro-rich.				cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				CCCTGGGAGGCTCCTAGGTCC	0.642																																						ENST00000454449.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(826-828)aGc>aAc		ets variant 3-like							24.0	29.0	27.0					1																	157062700		2203	4300	6503	SO:0001583	missense	440695					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:157062700C>T	AK131392	CCDS30893.1	1q23.1	2013-09-24	2008-09-12		ENSG00000253831	ENSG00000253831			33834	protein-coding gene	gene with protein product			"""ets variant gene 3-like"""				Standard	NM_001004341		Approved	FLJ16478	uc001fqq.2	Q6ZN32	OTTHUMG00000041325	ENST00000454449.2:c.827G>A	1.37:g.157062700C>T	ENSP00000430271:p.Ser276Asn		Somatic					p.S276N	NM_001004341.2	NP_001004341.1	WXS	Illumina GAIIx	Phase_I	Q6ZN32	ETV3L_HUMAN			5	1111	-	Hepatocellular(266;0.158)	Prostate(1639;0.184)	276			Pro-rich.			Missense_Mutation	SNP	ENST00000454449.2	37	c.827G>A	CCDS30893.1	.	.	.	.	.	.	.	.	.	.	C	6.380	0.438136	0.12104	.	.	ENSG00000253831	ENST00000454449	T	0.33865	1.39	3.69	2.68	0.31781	.	.	.	.	.	T	0.07324	0.0185	N	0.19112	0.55	0.09310	N	1	B	0.23854	0.092	B	0.18561	0.022	T	0.27297	-1.0078	9	0.17369	T	0.5	.	5.557	0.17121	0.24:0.5597:0.2003:0.0	.	276	Q6ZN32	ETV3L_HUMAN	N	276	ENSP00000430271:S276N	ENSP00000430271:S276N	S	-	2	0	ETV3L	155329324	0.007000	0.16637	0.002000	0.10522	0.022000	0.10575	1.277000	0.33167	1.887000	0.54652	0.491000	0.48974	AGC		0.642	ETV3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099024.2	NM_001004341		12	21	12	21	---	---	---	---
IPO9	55705	broad.mit.edu	37	1	201822199	201822199	+	Missense_Mutation	SNP	A	A	G			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr1:201822199A>G	ENST00000361565.4	+	6	733	c.664A>G	c.(664-666)Atc>Gtc	p.I222V	IPO9_ENST00000464348.1_3'UTR	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	222					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						TGCCCATATGATCTGTAACAT	0.438																																						ENST00000361565.4																			0				cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(664-666)Atc>Gtc		importin 9							217.0	204.0	208.0					1																	201822199		2203	4300	6503	SO:0001583	missense	55705				protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity	g.chr1:201822199A>G	AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"""Importins"""	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.664A>G	1.37:g.201822199A>G	ENSP00000354742:p.Ile222Val		Somatic				IPO9_ENST00000464348.1_3'UTR	p.I222V	NM_018085.4	NP_060555.2	WXS	Illumina GAIIx	Phase_I	Q96P70	IPO9_HUMAN			6	733	+			222					B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Missense_Mutation	SNP	ENST00000361565.4	37	c.664A>G	CCDS1415.1	.	.	.	.	.	.	.	.	.	.	A	18.32	3.598912	0.66332	.	.	ENSG00000198700	ENST00000361565	T	0.68181	-0.31	5.64	5.64	0.86602	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.56949	0.2020	L	0.45422	1.42	0.80722	D	1	P	0.39116	0.66	B	0.35971	0.215	T	0.56141	-0.8028	10	0.25106	T	0.35	-10.324	13.816	0.63292	1.0:0.0:0.0:0.0	.	222	Q96P70	IPO9_HUMAN	V	222	ENSP00000354742:I222V	ENSP00000354742:I222V	I	+	1	0	IPO9	200088822	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.849000	0.69465	2.162000	0.67917	0.455000	0.32223	ATC		0.438	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1	NM_018085		5	182	5	182	---	---	---	---
LRRTM1	347730	broad.mit.edu	37	2	80529581	80529581	+	Missense_Mutation	SNP	G	G	A			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr2:80529581G>A	ENST00000295057.3	-	2	2020	c.1364C>T	c.(1363-1365)gCc>gTc	p.A455V	CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.A455V|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000541047.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	455					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CCTGAGGCTGGCTGGGAAACA	0.572										HNSCC(69;0.2)																												ENST00000295057.3																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						c.(1363-1365)gCc>gTc		leucine rich repeat transmembrane neuronal 1							103.0	91.0	95.0					2																	80529581		2203	4300	6503	SO:0001583	missense	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80529581G>A	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.1364C>T	2.37:g.80529581G>A	ENSP00000295057:p.Ala455Val	HNSCC(69;0.2)	Somatic				CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.A455V|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron	p.A455V	NM_178839.4	NP_849161.2	WXS	Illumina GAIIx	Phase_I	Q86UE6	LRRT1_HUMAN			2	2020	-			455					A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	c.1364C>T	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.341098	0.81911	.	.	ENSG00000162951	ENST00000295057;ENST00000409148	T;T	0.50277	0.75;0.75	5.18	5.18	0.71444	.	0.000000	0.64402	U	0.000001	T	0.59756	0.2217	L	0.48642	1.525	0.80722	D	1	D	0.69078	0.997	P	0.60012	0.867	T	0.57124	-0.7865	9	.	.	.	.	18.6948	0.91596	0.0:0.0:1.0:0.0	.	455	Q86UE6	LRRT1_HUMAN	V	455	ENSP00000295057:A455V;ENSP00000386646:A455V	.	A	-	2	0	LRRTM1	80383092	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.864000	0.99589	2.383000	0.81215	0.561000	0.74099	GCC		0.572	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		19	27	19	27	---	---	---	---
VWA3B	200403	broad.mit.edu	37	2	98844716	98844716	+	Missense_Mutation	SNP	C	C	A			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr2:98844716C>A	ENST00000477737.1	+	15	2275	c.2071C>A	c.(2071-2073)Ctg>Atg	p.L691M		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	691										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TCACAGTGATCTGGAGAAGAT	0.433																																						ENST00000477737.1																			0				NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(2071-2073)Ctg>Atg		von Willebrand factor A domain containing 3B							108.0	109.0	108.0					2																	98844716		2003	4166	6169	SO:0001583	missense	200403							g.chr2:98844716C>A	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.2071C>A	2.37:g.98844716C>A	ENSP00000417955:p.Leu691Met		Somatic					p.L691M	NM_144992.4	NP_659429.4	WXS	Illumina GAIIx	Phase_I	Q502W6	VWA3B_HUMAN			15	2275	+			691					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.2071C>A	CCDS42718.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.47|13.47	2.248042|2.248042	0.39697|0.39697	.|.	.|.	ENSG00000168658|ENSG00000168658	ENST00000477737|ENST00000473149	T|.	0.10477|.	2.87|.	5.71|5.71	4.83|4.83	0.62350|0.62350	.|.	0.247202|.	0.27654|.	N|.	0.018406|.	T|T	0.69869|0.69869	0.3159|0.3159	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	0.999;0.999;1.0;0.999|.	T|T	0.69371|0.69371	-0.5163|-0.5163	10|5	0.62326|.	D|.	0.03|.	.|.	12.3672|12.3672	0.55234|0.55234	0.0:0.9183:0.0:0.0817|0.0:0.9183:0.0:0.0817	.|.	83;691;691;691|.	Q502W6-5;Q502W6;Q502W6-8;Q502W6-6|.	.;VWA3B_HUMAN;.;.|.	M|Y	691|101	ENSP00000417955:L691M|.	ENSP00000417955:L691M|.	L|S	+|+	1|2	2|0	VWA3B|VWA3B	98211148|98211148	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.041000|0.041000	0.13682|0.13682	1.367000|1.367000	0.34204|0.34204	1.410000|1.410000	0.46936|0.46936	0.467000|0.467000	0.42956|0.42956	CTG|TCT		0.433	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		19	44	19	44	---	---	---	---
FN1	2335	broad.mit.edu	37	2	216269132	216269132	+	Missense_Mutation	SNP	G	G	A			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr2:216269132G>A	ENST00000359671.1	-	20	3498	c.3233C>T	c.(3232-3234)gCc>gTc	p.A1078V	FN1_ENST00000432072.2_Missense_Mutation_p.A1078V|FN1_ENST00000346544.3_Missense_Mutation_p.A1078V|FN1_ENST00000357009.2_Missense_Mutation_p.A1078V|FN1_ENST00000421182.1_Missense_Mutation_p.A1078V|FN1_ENST00000345488.5_Missense_Mutation_p.A1078V|FN1_ENST00000357867.4_Missense_Mutation_p.A1078V|FN1_ENST00000446046.1_Missense_Mutation_p.A1078V|FN1_ENST00000443816.1_Missense_Mutation_p.A1078V|FN1_ENST00000356005.4_Missense_Mutation_p.A1078V|FN1_ENST00000354785.4_Missense_Mutation_p.A1078V|FN1_ENST00000323926.6_Missense_Mutation_p.A1078V|FN1_ENST00000336916.4_Missense_Mutation_p.A1078V			P02751	FINC_HUMAN	fibronectin 1	1078	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	GACTCCAGTGGCTTTGGGGCT	0.433																																						ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(3232-3234)gCc>gTc		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						94.0	91.0	92.0					2																	216269132		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216269132G>A		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.3233C>T	2.37:g.216269132G>A	ENSP00000352696:p.Ala1078Val		Somatic				FN1_ENST00000357867.4_Missense_Mutation_p.A1078V|FN1_ENST00000446046.1_Missense_Mutation_p.A1078V|FN1_ENST00000432072.2_Missense_Mutation_p.A1078V|FN1_ENST00000443816.1_Missense_Mutation_p.A1078V|FN1_ENST00000345488.5_Missense_Mutation_p.A1078V|FN1_ENST00000356005.4_Missense_Mutation_p.A1078V|FN1_ENST00000323926.6_Missense_Mutation_p.A1078V|FN1_ENST00000336916.4_Missense_Mutation_p.A1078V|FN1_ENST00000359671.1_Missense_Mutation_p.A1078V|FN1_ENST00000346544.3_Missense_Mutation_p.A1078V|FN1_ENST00000357009.2_Missense_Mutation_p.A1078V|FN1_ENST00000421182.1_Missense_Mutation_p.A1078V	p.A1078V			WXS	Illumina GAIIx	Phase_I	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	20	3602	-		Renal(323;0.127)	1078			Fibronectin type-III 5.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.3233C>T		.	.	.	.	.	.	.	.	.	.	G	10.74	1.434468	0.25813	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005	T;T;T;T;T;T;T;T;T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58;0.58;0.58;2.02;0.58;0.58;0.58;0.58;0.58	5.83	-4.91	0.03085	.	1.064140	0.07298	N	0.873544	T	0.27134	0.0665	N	0.11724	0.165	0.21325	N	0.999729	B;B;B;B;B;B;B;B;B;B	0.19935	0.005;0.0;0.04;0.0;0.001;0.0;0.002;0.001;0.0;0.001	B;B;B;B;B;B;B;B;B;B	0.21360	0.012;0.002;0.034;0.003;0.012;0.001;0.007;0.007;0.003;0.011	T	0.31138	-0.9954	10	0.09843	T	0.71	.	8.3336	0.32202	0.5623:0.0:0.2994:0.1384	.	1078;1078;1078;1078;1078;1078;1078;1078;1078;1078	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.	V	1078	ENSP00000394423:A1078V;ENSP00000323534:A1078V;ENSP00000338200:A1078V;ENSP00000350534:A1078V;ENSP00000346839:A1078V;ENSP00000352696:A1078V;ENSP00000265312:A1078V;ENSP00000273049:A1078V;ENSP00000349509:A1078V;ENSP00000410422:A1078V;ENSP00000415018:A1078V;ENSP00000399538:A1078V;ENSP00000348285:A1078V	ENSP00000265313:A1078V	A	-	2	0	FN1	215977377	0.136000	0.22515	0.878000	0.34440	0.934000	0.57294	-0.231000	0.09069	-0.752000	0.04728	-0.982000	0.02568	GCC		0.433	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		6	87	6	87	---	---	---	---
EVC2	132884	broad.mit.edu	37	4	5564760	5564760	+	Missense_Mutation	SNP	G	G	A			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr4:5564760G>A	ENST00000344408.5	-	22	3795	c.3742C>T	c.(3742-3744)Ccc>Tcc	p.P1248S	EVC2_ENST00000310917.2_Missense_Mutation_p.P1168S|EVC2_ENST00000344938.1_Intron	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1248					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TCGCCAATGGGCTCCAGTGAC	0.443																																						ENST00000310917.2																			0				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						c.(3502-3504)Ccc>Tcc		Ellis van Creveld syndrome 2							129.0	137.0	134.0					4																	5564760		2203	4300	6503	SO:0001583	missense	132884					integral to membrane		g.chr4:5564760G>A	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.3742C>T	4.37:g.5564760G>A	ENSP00000342144:p.Pro1248Ser		Somatic				EVC2_ENST00000344408.5_Missense_Mutation_p.P1248S|EVC2_ENST00000344938.1_Intron	p.P1168S	NM_001166136.1	NP_001159608.1	WXS	Illumina GAIIx	Phase_I	Q86UK5	LBN_HUMAN			22	4233	-			1248					Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	c.3502C>T	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	G	3.654	-0.070859	0.07228	.	.	ENSG00000173040	ENST00000310917;ENST00000344408	T;T	0.72835	-0.68;-0.69	5.02	1.56	0.23342	.	0.299896	0.33161	N	0.005203	T	0.37293	0.0998	N	0.03608	-0.345	0.58432	D	0.999998	B	0.12013	0.005	B	0.08055	0.003	T	0.16988	-1.0384	10	0.06891	T	0.86	-13.8807	6.4107	0.21690	0.1362:0.2379:0.6259:0.0	.	1248	Q86UK5	LBN_HUMAN	S	1168;1248	ENSP00000311683:P1168S;ENSP00000342144:P1248S	ENSP00000311683:P1168S	P	-	1	0	EVC2	5615661	0.408000	0.25360	0.996000	0.52242	0.992000	0.81027	0.214000	0.17541	0.458000	0.26988	0.563000	0.77884	CCC		0.443	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		9	146	9	146	---	---	---	---
CXCL1	2919	broad.mit.edu	37	4	74735480	74735480	+	Silent	SNP	C	C	T			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr4:74735480C>T	ENST00000395761.3	+	2	262	c.195C>T	c.(193-195)ccC>ccT	p.P65P	CXCL1_ENST00000509101.1_3'UTR	NM_001511.3	NP_001502.1	P09341	GROA_HUMAN	chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha)	65					actin cytoskeleton organization (GO:0030036)|cell chemotaxis (GO:0060326)|cell proliferation (GO:0008283)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|positive regulation of catalytic activity (GO:0043085)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|enzyme activator activity (GO:0008047)|receptor binding (GO:0005102)			lung(2)	2	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TGAAGTCCCCCGGACCCCACT	0.652																																						ENST00000395761.3																			0				lung(2)	2						c.(193-195)ccC>ccT		chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha)							86.0	104.0	98.0					4																	74735480		2203	4300	6503	SO:0001819	synonymous_variant	2919				actin cytoskeleton organization|cell proliferation|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|intracellular signal transduction|negative regulation of cell proliferation|nervous system development	extracellular space|intracellular	chemokine activity|enzyme activator activity|growth factor activity	g.chr4:74735480C>T	J03561	CCDS47074.1	4q13.3	2013-02-25	2002-08-22	2002-08-23		ENSG00000163739		"""Endogenous ligands"""	4602	protein-coding gene	gene with protein product		155730	"""GRO1 oncogene (melanoma growth stimulating activity, alpha)"", ""fibroblast secretory protein"""	MGSA, GRO1, FSP		2217207	Standard	NM_001511		Approved	SCYB1, GROa, MGSA-a, NAP-3	uc003hhh.3	P09341		ENST00000395761.3:c.195C>T	4.37:g.74735480C>T			Somatic				CXCL1_ENST00000509101.1_3'UTR	p.P65P	NM_001511.3	NP_001502.1	WXS	Illumina GAIIx	Phase_I	P09341	GROA_HUMAN	all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)		2	262	+	Breast(15;0.00102)		65					Q9UCR7	Silent	SNP	ENST00000395761.3	37	c.195C>T	CCDS47074.1																																																																																				0.652	CXCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362734.1			37	68	37	68	---	---	---	---
ATXN1	6310	broad.mit.edu	37	6	16328576	16328576	+	De_novo_Start_OutOfFrame	SNP	C	C	T			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr6:16328576C>T	ENST00000244769.4	-	0	902				ATXN1_ENST00000436367.1_De_novo_Start_OutOfFrame	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1						adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GACTGTTTCACTGTCTGGATG	0.527																																						ENST00000244769.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44								ataxin 1							19.0	18.0	18.0					6																	16328576		2086	4118	6204			6310				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	g.chr6:16328576C>T	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.-35G>A	6.37:g.16328576C>T			Somatic				ATXN1_ENST00000436367.1_De_novo_Start_OutOfFrame		NM_000332.3	NP_000323.2	WXS	Illumina GAIIx	Phase_I	P54253	ATX1_HUMAN			0	902	-	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)						Q17S02|Q9UJG2|Q9Y4J1	Translation_Start_Site	SNP	ENST00000244769.4	37		CCDS34342.1																																																																																				0.527	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		3	8	3	8	---	---	---	---
TNRC18	84629	broad.mit.edu	37	7	5353440	5353440	+	Missense_Mutation	SNP	G	G	A			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr7:5353440G>A	ENST00000430969.1	-	27	7430	c.7082C>T	c.(7081-7083)cCc>cTc	p.P2361L	TNRC18_ENST00000399537.4_Missense_Mutation_p.P2361L	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2361	Pro-rich.						chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CAGGGCTAAGGGGGTACTGGG	0.662																																						ENST00000399537.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(7081-7083)cCc>cTc		trinucleotide repeat containing 18							22.0	23.0	23.0					7																	5353440		1496	3477	4973	SO:0001583	missense	84629						DNA binding	g.chr7:5353440G>A	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.7082C>T	7.37:g.5353440G>A	ENSP00000395538:p.Pro2361Leu		Somatic				TNRC18_ENST00000430969.1_Missense_Mutation_p.P2361L	p.P2361L			WXS	Illumina GAIIx	Phase_I	O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	27	7430	-		Ovarian(82;0.142)	2361			Pro-rich.		A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	c.7082C>T	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	g	15.50	2.852905	0.51270	.	.	ENSG00000182095	ENST00000399537;ENST00000430969	T;T	0.14144	2.53;2.55	4.6	4.6	0.57074	.	0.000000	0.32868	N	0.005548	T	0.27313	0.0670	L	0.61218	1.895	0.42544	D	0.993083	D	0.60160	0.987	P	0.54544	0.755	T	0.02661	-1.1127	10	0.62326	D	0.03	.	14.1415	0.65322	0.0:0.0:1.0:0.0	.	2361	O15417	TNC18_HUMAN	L	2361	ENSP00000382452:P2361L;ENSP00000395538:P2361L	ENSP00000382452:P2361L	P	-	2	0	TNRC18	5319966	1.000000	0.71417	0.277000	0.24703	0.902000	0.53008	5.505000	0.66981	2.102000	0.63906	0.462000	0.41574	CCC		0.662	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				10	18	10	18	---	---	---	---
INTS9	55756	broad.mit.edu	37	8	28692856	28692856	+	Silent	SNP	C	C	A			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr8:28692856C>A	ENST00000521022.1	-	6	522	c.441G>T	c.(439-441)gtG>gtT	p.V147V	INTS9_ENST00000397363.4_Silent_p.V41V|INTS9_ENST00000521777.1_Silent_p.V123V|INTS9_ENST00000416984.2_Silent_p.V126V	NM_018250.3	NP_060720.2	Q9NV88	INT9_HUMAN	integrator complex subunit 9	147					snRNA processing (GO:0016180)	cytoplasm (GO:0005737)|integrator complex (GO:0032039)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		GAGCCTTTGGCACTCTTTCAA	0.443																																						ENST00000416984.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19						c.(376-378)gtG>gtT		integrator complex subunit 9							109.0	98.0	102.0					8																	28692856		2203	4300	6503	SO:0001819	synonymous_variant	55756				snRNA processing	integrator complex	protein binding	g.chr8:28692856C>A	BC025267	CCDS34873.1, CCDS55215.1, CCDS55216.1	8p21.1	2008-02-05			ENSG00000104299	ENSG00000104299			25592	protein-coding gene	gene with protein product		611352				16239144	Standard	NM_001172562		Approved	FLJ10871, CPSF2L, RC-74	uc011lav.2	Q9NV88	OTTHUMG00000164030	ENST00000521022.1:c.441G>T	8.37:g.28692856C>A			Somatic				INTS9_ENST00000521022.1_Silent_p.V147V|INTS9_ENST00000521777.1_Silent_p.V123V|INTS9_ENST00000397363.4_Silent_p.V41V	p.V126V	NM_001145159.2	NP_001138631.1	WXS	Illumina GAIIx	Phase_I	Q9NV88	INT9_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)	5	737	-		Ovarian(32;0.0439)	147					B7Z560|B7Z6M5|O00224|Q8TB16	Silent	SNP	ENST00000521022.1	37	c.378G>T	CCDS34873.1																																																																																				0.443	INTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376846.1	NM_018250		3	37	3	37	---	---	---	---
MTDH	92140	broad.mit.edu	37	8	98712028	98712028	+	Missense_Mutation	SNP	G	G	T			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr8:98712028G>T	ENST00000336273.3	+	7	1423	c.1095G>T	c.(1093-1095)caG>caT	p.Q365H	MTDH_ENST00000519934.1_Intron	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	365					lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of angiogenesis (GO:0045766)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)	double-stranded RNA binding (GO:0003725)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			CTGATTATCAGTGGGATGTTA	0.328																																						ENST00000336273.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1093-1095)caG>caT		metadherin							143.0	137.0	139.0					8																	98712028		2203	4300	6503	SO:0001583	missense	92140				lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity	g.chr8:98712028G>T	AF411226	CCDS6274.1	8q22.1	2014-07-14			ENSG00000147649	ENSG00000147649			29608	protein-coding gene	gene with protein product	"""astrocyte elevated gene 1"""	610323				15093543	Standard	NM_178812		Approved	LYRIC, 3D3, AEG-1	uc003yhz.3	Q86UE4	OTTHUMG00000164692	ENST00000336273.3:c.1095G>T	8.37:g.98712028G>T	ENSP00000338235:p.Gln365His		Somatic				MTDH_ENST00000519934.1_Intron	p.Q365H	NM_178812.3	NP_848927.2	WXS	Illumina GAIIx	Phase_I	Q86UE4	LYRIC_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.178)		7	1423	+	Breast(36;2.56e-06)		365					Q05DH2|Q52QU9|Q6PK07|Q8TCX3	Missense_Mutation	SNP	ENST00000336273.3	37	c.1095G>T	CCDS6274.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.780053	0.70222	.	.	ENSG00000147649	ENST00000336273;ENST00000521933	T	0.50001	0.76	5.19	5.19	0.71726	.	0.645248	0.16322	N	0.219517	T	0.61085	0.2319	L	0.50333	1.59	0.80722	D	1	D	0.69078	0.997	D	0.66847	0.947	T	0.60037	-0.7341	10	0.59425	D	0.04	-7.9369	12.7011	0.57034	0.0792:0.0:0.9208:0.0	.	365	Q86UE4	LYRIC_HUMAN	H	365;35	ENSP00000338235:Q365H	ENSP00000338235:Q365H	Q	+	3	2	MTDH	98781204	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.740000	0.55082	2.581000	0.87130	0.561000	0.74099	CAG		0.328	MTDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379772.2			31	56	31	56	---	---	---	---
HHEX	3087	broad.mit.edu	37	10	94454307	94454307	+	Missense_Mutation	SNP	A	A	C			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr10:94454307A>C	ENST00000282728.5	+	4	2394	c.595A>C	c.(595-597)Aac>Cac	p.N199H	HHEX_ENST00000472590.2_Missense_Mutation_p.N27H|HHEX_ENST00000492654.2_Missense_Mutation_p.N27H	NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN	hematopoietically expressed homeobox	199					anterior/posterior pattern specification (GO:0009952)|B cell differentiation (GO:0030183)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|DNA conformation change (GO:0071103)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|forebrain morphogenesis (GO:0048853)|gall bladder development (GO:0061010)|hepatic duct development (GO:0061011)|hepatoblast differentiation (GO:0061017)|hepatocyte differentiation (GO:0070365)|in utero embryonic development (GO:0001701)|interkinetic nuclear migration (GO:0022027)|mRNA export from nucleus (GO:0006406)|multicellular organism growth (GO:0035264)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|pancreas development (GO:0031016)|poly(A)+ mRNA export from nucleus (GO:0016973)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|primary lung bud formation (GO:0060431)|primitive streak formation (GO:0090009)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|eukaryotic initiation factor 4E binding (GO:0008190)|protein homodimerization activity (GO:0042803)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						TATTCAGGAGAACCCTCAAAG	0.368																																						ENST00000282728.5																			0				kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						c.(595-597)Aac>Cac		hematopoietically expressed homeobox							52.0	55.0	54.0					10																	94454307		2203	4300	6503	SO:0001583	missense	3087				anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway	cytoplasm|nucleus|protein-DNA complex	DNA bending activity|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|TBP-class protein binding|transcription regulatory region DNA binding	g.chr10:94454307A>C	Z21533	CCDS7423.1	10q23.33	2011-06-20	2007-02-15		ENSG00000152804	ENSG00000152804		"""Homeoboxes / ANTP class : NKL subclass"""	4901	protein-coding gene	gene with protein product		604420		PRHX		8096636, 8103988	Standard	NM_002729		Approved	HEX, HOX11L-PEN	uc001kid.3	Q03014	OTTHUMG00000018762	ENST00000282728.5:c.595A>C	10.37:g.94454307A>C	ENSP00000282728:p.Asn199His		Somatic				HHEX_ENST00000472590.2_Missense_Mutation_p.N27H|HHEX_ENST00000492654.2_Missense_Mutation_p.N27H	p.N199H	NM_002729.4	NP_002720.1	WXS	Illumina GAIIx	Phase_I	Q03014	HHEX_HUMAN			4	2394	+			199					B1AQ17|Q96CE9	Missense_Mutation	SNP	ENST00000282728.5	37	c.595A>C	CCDS7423.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.019033	0.75275	.	.	ENSG00000152804	ENST00000282728;ENST00000472590;ENST00000492654	D;D;D	0.91011	-2.77;-1.71;-1.71	5.34	5.34	0.76211	Homeobox (1);	0.000000	0.85682	D	0.000000	D	0.91774	0.7398	L	0.34521	1.04	0.47341	D	0.999398	D	0.69078	0.997	D	0.64687	0.928	D	0.92027	0.5630	10	0.48119	T	0.1	-10.8346	15.4877	0.75578	1.0:0.0:0.0:0.0	.	199	Q03014	HHEX_HUMAN	H	199;27;27	ENSP00000282728:N199H;ENSP00000450017:N27H;ENSP00000447953:N27H	ENSP00000282728:N199H	N	+	1	0	HHEX	94444287	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.235000	0.78143	2.248000	0.74166	0.533000	0.62120	AAC		0.368	HHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049402.2			11	13	11	13	---	---	---	---
HHEX	3087	broad.mit.edu	37	10	94454330	94454330	+	Missense_Mutation	SNP	A	A	C			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr10:94454330A>C	ENST00000282728.5	+	4	2417	c.618A>C	c.(616-618)gaA>gaC	p.E206D	HHEX_ENST00000472590.2_Missense_Mutation_p.E34D|HHEX_ENST00000492654.2_Missense_Mutation_p.E34D	NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN	hematopoietically expressed homeobox	206					anterior/posterior pattern specification (GO:0009952)|B cell differentiation (GO:0030183)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|DNA conformation change (GO:0071103)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|forebrain morphogenesis (GO:0048853)|gall bladder development (GO:0061010)|hepatic duct development (GO:0061011)|hepatoblast differentiation (GO:0061017)|hepatocyte differentiation (GO:0070365)|in utero embryonic development (GO:0001701)|interkinetic nuclear migration (GO:0022027)|mRNA export from nucleus (GO:0006406)|multicellular organism growth (GO:0035264)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|pancreas development (GO:0031016)|poly(A)+ mRNA export from nucleus (GO:0016973)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|primary lung bud formation (GO:0060431)|primitive streak formation (GO:0090009)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|eukaryotic initiation factor 4E binding (GO:0008190)|protein homodimerization activity (GO:0042803)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						ATAAAAAAGAAGAACTGGAAA	0.393																																						ENST00000282728.5																			0				kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						c.(616-618)gaA>gaC		hematopoietically expressed homeobox							72.0	75.0	74.0					10																	94454330		2203	4300	6503	SO:0001583	missense	3087				anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway	cytoplasm|nucleus|protein-DNA complex	DNA bending activity|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|TBP-class protein binding|transcription regulatory region DNA binding	g.chr10:94454330A>C	Z21533	CCDS7423.1	10q23.33	2011-06-20	2007-02-15		ENSG00000152804	ENSG00000152804		"""Homeoboxes / ANTP class : NKL subclass"""	4901	protein-coding gene	gene with protein product		604420		PRHX		8096636, 8103988	Standard	NM_002729		Approved	HEX, HOX11L-PEN	uc001kid.3	Q03014	OTTHUMG00000018762	ENST00000282728.5:c.618A>C	10.37:g.94454330A>C	ENSP00000282728:p.Glu206Asp		Somatic				HHEX_ENST00000472590.2_Missense_Mutation_p.E34D|HHEX_ENST00000492654.2_Missense_Mutation_p.E34D	p.E206D	NM_002729.4	NP_002720.1	WXS	Illumina GAIIx	Phase_I	Q03014	HHEX_HUMAN			4	2417	+			206					B1AQ17|Q96CE9	Missense_Mutation	SNP	ENST00000282728.5	37	c.618A>C	CCDS7423.1	.	.	.	.	.	.	.	.	.	.	A	10.42	1.345676	0.24426	.	.	ENSG00000152804	ENST00000282728;ENST00000472590;ENST00000492654	D;D;D	0.91180	-2.8;-1.69;-1.69	4.93	-5.94	0.02247	.	0.173336	0.49305	N	0.000143	T	0.70631	0.3246	N	0.12746	0.255	0.23984	N	0.996269	B	0.02656	0.0	B	0.01281	0.0	T	0.63047	-0.6724	10	0.17832	T	0.49	-0.859	1.7607	0.02992	0.2779:0.096:0.3335:0.2927	.	206	Q03014	HHEX_HUMAN	D	206;34;34	ENSP00000282728:E206D;ENSP00000450017:E34D;ENSP00000447953:E34D	ENSP00000282728:E206D	E	+	3	2	HHEX	94444310	0.973000	0.33851	0.921000	0.36526	0.992000	0.81027	0.368000	0.20399	-0.926000	0.03770	0.533000	0.62120	GAA		0.393	HHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049402.2			12	20	12	20	---	---	---	---
HHEX	3087	broad.mit.edu	37	10	94454417	94454417	+	Missense_Mutation	SNP	A	A	C			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr10:94454417A>C	ENST00000282728.5	+	4	2504	c.705A>C	c.(703-705)caA>caC	p.Q235H	HHEX_ENST00000472590.2_Missense_Mutation_p.Q63H|HHEX_ENST00000492654.2_Missense_Mutation_p.Q63H	NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN	hematopoietically expressed homeobox	235					anterior/posterior pattern specification (GO:0009952)|B cell differentiation (GO:0030183)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|DNA conformation change (GO:0071103)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|forebrain morphogenesis (GO:0048853)|gall bladder development (GO:0061010)|hepatic duct development (GO:0061011)|hepatoblast differentiation (GO:0061017)|hepatocyte differentiation (GO:0070365)|in utero embryonic development (GO:0001701)|interkinetic nuclear migration (GO:0022027)|mRNA export from nucleus (GO:0006406)|multicellular organism growth (GO:0035264)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|pancreas development (GO:0031016)|poly(A)+ mRNA export from nucleus (GO:0016973)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|primary lung bud formation (GO:0060431)|primitive streak formation (GO:0090009)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|eukaryotic initiation factor 4E binding (GO:0008190)|protein homodimerization activity (GO:0042803)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						ATAGCTCTCAATGTTCGCCCT	0.438																																						ENST00000282728.5																			0				kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						c.(703-705)caA>caC		hematopoietically expressed homeobox							107.0	105.0	106.0					10																	94454417		2203	4300	6503	SO:0001583	missense	3087				anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway	cytoplasm|nucleus|protein-DNA complex	DNA bending activity|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|TBP-class protein binding|transcription regulatory region DNA binding	g.chr10:94454417A>C	Z21533	CCDS7423.1	10q23.33	2011-06-20	2007-02-15		ENSG00000152804	ENSG00000152804		"""Homeoboxes / ANTP class : NKL subclass"""	4901	protein-coding gene	gene with protein product		604420		PRHX		8096636, 8103988	Standard	NM_002729		Approved	HEX, HOX11L-PEN	uc001kid.3	Q03014	OTTHUMG00000018762	ENST00000282728.5:c.705A>C	10.37:g.94454417A>C	ENSP00000282728:p.Gln235His		Somatic				HHEX_ENST00000472590.2_Missense_Mutation_p.Q63H|HHEX_ENST00000492654.2_Missense_Mutation_p.Q63H	p.Q235H	NM_002729.4	NP_002720.1	WXS	Illumina GAIIx	Phase_I	Q03014	HHEX_HUMAN			4	2504	+			235					B1AQ17|Q96CE9	Missense_Mutation	SNP	ENST00000282728.5	37	c.705A>C	CCDS7423.1	.	.	.	.	.	.	.	.	.	.	A	18.68	3.676406	0.67928	.	.	ENSG00000152804	ENST00000282728;ENST00000472590;ENST00000492654	D;D;D	0.91351	-2.83;-1.69;-1.69	5.44	-10.9	0.00192	.	0.470214	0.22060	N	0.065189	D	0.88470	0.6445	L	0.29908	0.895	0.09310	N	0.999992	D	0.61697	0.99	D	0.72982	0.979	D	0.86610	0.1872	10	0.72032	D	0.01	-0.6761	13.8864	0.63710	0.1723:0.0:0.7571:0.0706	.	235	Q03014	HHEX_HUMAN	H	235;63;63	ENSP00000282728:Q235H;ENSP00000450017:Q63H;ENSP00000447953:Q63H	ENSP00000282728:Q235H	Q	+	3	2	HHEX	94444397	0.017000	0.18338	0.009000	0.14445	0.941000	0.58515	-0.734000	0.04893	-1.859000	0.01156	-0.993000	0.02533	CAA		0.438	HHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049402.2			17	27	17	27	---	---	---	---
OR51M1	390059	broad.mit.edu	37	11	5410912	5410912	+	Missense_Mutation	SNP	G	G	A	rs202231256	byFrequency	TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr11:5410912G>A	ENST00000328611.3	+	1	306	c.284G>A	c.(283-285)gGg>gAg	p.G95E	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	95					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCACTATGGGGATCTTCTGG	0.507																																						ENST00000328611.3																			0				NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30						c.(283-285)gGg>gAg		olfactory receptor, family 51, subfamily M, member 1							163.0	151.0	155.0					11																	5410912		2008	4199	6207	SO:0001583	missense	390059					integral to membrane	olfactory receptor activity	g.chr11:5410912G>A	BK004382	CCDS53596.1	11p15.4	2012-08-09			ENSG00000184698	ENSG00000184698		"""GPCR / Class A : Olfactory receptors"""	14847	protein-coding gene	gene with protein product							Standard	NM_001004756		Approved		uc010qzc.2	Q9H341	OTTHUMG00000066680	ENST00000328611.3:c.284G>A	11.37:g.5410912G>A	ENSP00000333196:p.Gly95Glu		Somatic				HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	p.G95E	NM_001004756.2	NP_001004756.2	WXS	Illumina GAIIx	Phase_I	B2RNI9	B2RNI9_HUMAN		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	306	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	95					Q6IF80	Missense_Mutation	SNP	ENST00000328611.3	37	c.284G>A	CCDS53596.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.788860	0.31685	.	.	ENSG00000184698	ENST00000328611	T	0.04406	3.63	5.15	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34291	U	0.004087	T	0.10852	0.0265	L	0.58669	1.825	0.09310	N	1	P	0.48089	0.905	P	0.52598	0.703	T	0.04481	-1.0948	10	0.66056	D	0.02	.	8.9659	0.35877	0.0827:0.1503:0.7671:0.0	.	84	Q9H341	O51M1_HUMAN	E	95	ENSP00000333196:G95E	ENSP00000333196:G95E	G	+	2	0	OR51M1	5367488	0.005000	0.15991	0.668000	0.29813	0.063000	0.16089	1.523000	0.35932	1.403000	0.46800	0.650000	0.86243	GGG		0.507	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142981.1	NM_001004756		35	81	35	81	---	---	---	---
NOS1	4842	broad.mit.edu	37	12	117657907	117657907	+	Silent	SNP	G	G	A			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr12:117657907G>A	ENST00000338101.4	-	27	4249	c.4245C>T	c.(4243-4245)gaC>gaT	p.D1415D	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Silent_p.D1381D			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.D1381D(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		ATACGCCGGCGTCCTCTGCCG	0.577																																					Esophageal Squamous(162;1748 2599 51982 52956)	ENST00000317775.6																			1	Substitution - coding silent(1)	p.D1381D(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(4141-4143)gaC>gaT		nitric oxide synthase 1 (neuronal)	L-Citrulline(DB00155)						96.0	108.0	104.0					12																	117657907		2143	4253	6396	SO:0001819	synonymous_variant	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117657907G>A		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.4245C>T	12.37:g.117657907G>A			Somatic				NOS1_ENST00000338101.4_Silent_p.D1415D|NOS1_ENST00000344089.3_3'UTR	p.D1381D	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	WXS	Illumina GAIIx	Phase_I	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	27	4828	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1381						Silent	SNP	ENST00000338101.4	37	c.4143C>T	CCDS55890.1																																																																																				0.577	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			29	72	29	72	---	---	---	---
DIO3	1735	broad.mit.edu	37	14	102027947	102027947	+	Silent	SNP	C	C	T			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr14:102027947C>T	ENST00000510508.4	+	1	260	c.114C>T	c.(112-114)ctC>ctT	p.L38L	DIO3OS_ENST00000408206.1_lincRNA|DIO3_ENST00000359323.3_Silent_p.L12L			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	38					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|positive regulation of multicellular organism growth (GO:0040018)|small molecule metabolic process (GO:0044281)|thyroid hormone catabolic process (GO:0042404)|thyroid hormone generation (GO:0006590)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thyroxine 5'-deiodinase activity (GO:0004800)|thyroxine 5-deiodinase activity (GO:0033798)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				CCTTGAGGCTCTGCGCCCAGA	0.657																																						ENST00000359323.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22						c.(34-36)ctC>ctT		deiodinase, iodothyronine, type III							30.0	34.0	33.0					14																	102027947		2152	4252	6404	SO:0001819	synonymous_variant	1735				cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity	g.chr14:102027947C>T	S79854	CCDS41992.1, CCDS41992.2	14q32	2012-10-08			ENSG00000197406	ENSG00000197406			2885	protein-coding gene	gene with protein product		601038		TXDI3		9787088, 7593630	Standard	NM_001362		Approved		uc021sdx.1	P55073	OTTHUMG00000160681	ENST00000510508.4:c.114C>T	14.37:g.102027947C>T			Somatic				DIO3_ENST00000510508.4_Silent_p.L38L	p.L12L	NM_001362.3	NP_001353.4	WXS	Illumina GAIIx	Phase_I	P55073	IOD3_HUMAN			1	260	+		all_neural(303;0.185)	12					G3XAM0|Q8WVN5	Silent	SNP	ENST00000510508.4	37	c.36C>T	CCDS41992.2																																																																																				0.657	DIO3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000361712.4	NM_001362		10	25	10	25	---	---	---	---
NEK8	284086	broad.mit.edu	37	17	27062354	27062354	+	Missense_Mutation	SNP	G	G	A			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr17:27062354G>A	ENST00000268766.6	+	4	617	c.583G>A	c.(583-585)Gag>Aag	p.E195K	AC010761.6_ENST00000584779.1_RNA|NEK8_ENST00000593261.1_3'UTR	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	195	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					TGTCCTCTACGAGCTGGCCAG	0.602																																					NSCLC(6;19 293 14866 25253 49845)	ENST00000268766.6																			0				breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(583-585)Gag>Aag		NIMA-related kinase 8							43.0	41.0	41.0					17																	27062354		2203	4300	6503	SO:0001583	missense	284086					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:27062354G>A	AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"""NIMA (never in mitosis gene a)- related kinase 8"""			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.583G>A	17.37:g.27062354G>A	ENSP00000268766:p.Glu195Lys		Somatic				NEK8_ENST00000593261.1_3'UTR|AC010761.6_ENST00000584779.1_RNA	p.E195K	NM_178170.2	NP_835464.1	WXS	Illumina GAIIx	Phase_I	Q86SG6	NEK8_HUMAN			4	617	+	Lung NSC(42;0.0158)		195			Protein kinase.		A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Missense_Mutation	SNP	ENST00000268766.6	37	c.583G>A	CCDS32597.1	.	.	.	.	.	.	.	.	.	.	G	37	6.319888	0.97471	.	.	ENSG00000160602	ENST00000543014;ENST00000268766	T;T	0.36878	1.23;1.23	5.73	5.73	0.89815	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.67915	0.2944	M	0.92077	3.27	0.80722	D	1	D	0.65815	0.995	P	0.60473	0.875	T	0.76132	-0.3071	10	0.87932	D	0	.	18.8895	0.92392	0.0:0.0:1.0:0.0	.	195	Q86SG6	NEK8_HUMAN	K	195	ENSP00000465859:E195K;ENSP00000268766:E195K	ENSP00000268766:E195K	E	+	1	0	NEK8	24086481	1.000000	0.71417	0.996000	0.52242	0.795000	0.44927	9.622000	0.98378	2.704000	0.92352	0.549000	0.68633	GAG		0.602	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446467.2			7	16	7	16	---	---	---	---
AARSD1	80755	broad.mit.edu	37	17	41107892	41107892	+	Missense_Mutation	SNP	T	T	C			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr17:41107892T>C	ENST00000427569.2	-	7	796	c.761A>G	c.(760-762)cAt>cGt	p.H254R	PTGES3L-AARSD1_ENST00000421990.2_Missense_Mutation_p.H428R|AARSD1_ENST00000416949.1_5'Flank|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.H428R|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.H367R|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.H337R	NM_001261434.1	NP_001248363.1	Q9BTE6	AASD1_HUMAN	alanyl-tRNA synthetase domain containing 1	254					alanyl-tRNA aminoacylation (GO:0006419)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	alanine-tRNA ligase activity (GO:0004813)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|Ser-tRNA(Ala) hydrolase activity (GO:0002196)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|skin(1)	17		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		TTCAGTTCCATGACTTCTCTC	0.438																																						ENST00000421990.2																			0											c.(1282-1284)cAt>cGt									209.0	200.0	203.0					17																	41107892		2203	4300	6503	SO:0001583	missense	100885850							g.chr17:41107892T>C	BC004172	CCDS11447.1, CCDS45691.1, CCDS58552.1	17q21.31	2012-10-05			ENSG00000266967	ENSG00000266967			28417	protein-coding gene	gene with protein product		613212					Standard	NM_001261434		Approved	MGC2744		Q9BTE6	OTTHUMG00000153515	ENST00000427569.2:c.761A>G	17.37:g.41107892T>C	ENSP00000400870:p.His254Arg		Somatic				AARSD1_ENST00000427569.2_Missense_Mutation_p.H254R|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.H367R|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.H337R|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.H428R	p.H428R	NM_001136042.2	NP_001129514.2	WXS	Illumina GAIIx	Phase_I					12	1628	-								B4DI73	Missense_Mutation	SNP	ENST00000427569.2	37	c.1283A>G	CCDS58552.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.48|18.48	3.633956|3.633956	0.67130|0.67130	.|.	.|.	ENSG00000108825|ENSG00000108825	ENST00000360221;ENST00000409399;ENST00000421990;ENST00000427569;ENST00000409103;ENST00000423601|ENST00000441280	T;T|.	0.42513|.	0.97;0.97|.	5.52|5.52	5.52|5.52	0.82312|0.82312	Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);|.	0.125797|.	0.53938|.	D|.	0.000042|.	T|T	0.63965|0.63965	0.2556|0.2556	L|L	0.50333|0.50333	1.59|1.59	0.35422|.	D|.	0.793350|.	P;P;P;B|.	0.46706|.	0.815;0.607;0.883;0.182|.	B;B;B;B|.	0.38458|.	0.274;0.177;0.274;0.084|.	T|T	0.66779|0.66779	-0.5837|-0.5837	9|4	0.31617|.	T|.	0.26|.	-16.9889|-16.9889	15.6523|15.6523	0.77108|0.77108	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	428;337;385;254|.	B4DI73;C9J5N1;B3KSP9;Q9BTE6|.	.;.;.;AASD1_HUMAN|.	R|V	367;428;428;254;337;136|260	ENSP00000386621:H428R;ENSP00000409924:H428R|.	ENSP00000353355:H367R|.	H|M	-|-	2|1	0|0	AARSD1|AARSD1	38361418|38361418	1.000000|1.000000	0.71417|0.71417	0.857000|0.857000	0.33713|0.33713	0.992000|0.992000	0.81027|0.81027	7.875000|7.875000	0.87205|0.87205	2.086000|2.086000	0.62901|0.62901	0.459000|0.459000	0.35465|0.35465	CAT|ATG		0.438	AARSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467729.1	NM_001261434		5	155	5	155	---	---	---	---
PEG3	5178	broad.mit.edu	37	19	57326531	57326531	+	Silent	SNP	G	G	A			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr19:57326531G>A	ENST00000326441.9	-	10	3642	c.3279C>T	c.(3277-3279)gaC>gaT	p.D1093D	ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Silent_p.D1093D|PEG3_ENST00000593695.1_Silent_p.D967D|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Silent_p.D969D|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1093					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGTCTTCCATGTCTGAGCCTT	0.522																																						ENST00000326441.9																			0				NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(3277-3279)gaC>gaT		paternally expressed 3							124.0	118.0	120.0					19																	57326531		2203	4300	6503	SO:0001819	synonymous_variant	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57326531G>A	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.3279C>T	19.37:g.57326531G>A			Somatic				PEG3_ENST00000598410.1_Silent_p.D969D|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Silent_p.D967D|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Silent_p.D1093D|ZIM2_ENST00000593711.1_Intron	p.D1093D	NM_006210.2	NP_006201.1	WXS	Illumina GAIIx	Phase_I	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	3642	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	1093					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	ENST00000326441.9	37	c.3279C>T	CCDS12948.1																																																																																				0.522	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			41	60	41	60	---	---	---	---
PDCD11	22984	broad.mit.edu	37	10	105201643	105201643	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr10:105201643delA	ENST00000369797.3	+	31	4712	c.4618delA	c.(4618-4620)aatfs	p.N1540fs		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1540					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CTTCGCTTGGAATGTGGGACT	0.577																																						ENST00000369797.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(4618-4620)aatfs		programmed cell death 11							50.0	56.0	54.0					10																	105201643		2203	4300	6503	SO:0001589	frameshift_variant	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105201643delA	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.4618delA	10.37:g.105201643delA	ENSP00000358812:p.Asn1540fs		Somatic					p.N1540fs	NM_014976.1	NP_055791.1	WXS	Illumina GAIIx	Phase_I	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	31	4712	+		Colorectal(252;0.0747)|Breast(234;0.128)	1540					Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Frame_Shift_Del	DEL	ENST00000369797.3	37	c.4618delA	CCDS31276.1																																																																																				0.577	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			10	25	10	25	---	---	---	---
PRPF40B	25766	broad.mit.edu	37	12	50036730	50036730	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr12:50036730delC	ENST00000380281.1	+	21	2137	c.2073delC	c.(2071-2073)ctcfs	p.L691fs	PRPF40B_ENST00000548825.2_Frame_Shift_Del_p.L712fs|PRPF40B_ENST00000261897.1_Frame_Shift_Del_p.L678fs|FMNL3_ENST00000335154.5_3'UTR			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	691					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GCCAGCACCTCCACACCAAAG	0.542																																						ENST00000261897.1																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						c.(2032-2034)ctcfs		PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)							126.0	103.0	111.0					12																	50036730		2203	4300	6503	SO:0001589	frameshift_variant	25766				mRNA processing|RNA splicing	nuclear speck		g.chr12:50036730delC	AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.2073delC	12.37:g.50036730delC	ENSP00000369634:p.Leu691fs		Somatic				FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000548825.2_Frame_Shift_Del_p.L712fs|PRPF40B_ENST00000380281.1_Frame_Shift_Del_p.L691fs	p.L678fs			WXS	Illumina GAIIx	Phase_I	Q6NWY9	PR40B_HUMAN			21	2585	+			691					O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Frame_Shift_Del	DEL	ENST00000380281.1	37	c.2034delC																																																																																					0.542	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272		2	4	2	4	---	---	---	---
MICAL3	57553	broad.mit.edu	37	22	18389469	18389477	+	In_Frame_Del	DEL	TCACAGAGC	TCACAGAGC	-			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr22:18389469_18389477delTCACAGAGC	ENST00000441493.2	-	2	454_462	c.102_110delGCTCTGTGA	c.(100-111)gagctctgtgac>gac	p.ELC34del	MICAL3_ENST00000585038.1_In_Frame_Del_p.ELC34del|MICAL3_ENST00000444520.1_In_Frame_Del_p.ELC34del|MICAL3_ENST00000383094.3_In_Frame_Del_p.ELC34del|MICAL3_ENST00000414725.2_In_Frame_Del_p.ELC34del|MICAL3_ENST00000207726.7_In_Frame_Del_p.ELC34del|MICAL3_ENST00000429452.1_In_Frame_Del_p.ELC34del|MICAL3_ENST00000400561.2_In_Frame_Del_p.ELC34del	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	34	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TTCCAGGTGGTCACAGAGCTCCTGGAAAG	0.526																																						ENST00000441493.2																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(100-111)gagctctgtgac>gac		microtubule associated monooxygenase, calponin and LIM domain containing 3																																				SO:0001651	inframe_deletion	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18389469_18389477delTCACAGAGC	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.102_110delGCTCTGTGA	22.37:g.18389469_18389477delTCACAGAGC	ENSP00000416015:p.Glu34_Cys36del		Somatic				MICAL3_ENST00000585038.1_In_Frame_Del_p.ELC34del|MICAL3_ENST00000400561.2_In_Frame_Del_p.ELC34del|MICAL3_ENST00000444520.1_In_Frame_Del_p.ELC34del|MICAL3_ENST00000207726.7_In_Frame_Del_p.ELC34del|MICAL3_ENST00000383094.3_In_Frame_Del_p.ELC34del|MICAL3_ENST00000414725.2_In_Frame_Del_p.ELC34del|MICAL3_ENST00000429452.1_In_Frame_Del_p.ELC34del	p.ELC34del	NM_015241.2	NP_056056.2	WXS	Illumina GAIIx	Phase_I	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	2	454_462	-		all_epithelial(15;0.198)	34					B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	In_Frame_Del	DEL	ENST00000441493.2	37	c.102_110delGCTCTGTGA	CCDS46659.1																																																																																				0.526	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			13	148	13	148	---	---	---	---
