#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	lincRNA	SNP	A	A	G	rs374719458		TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373																																						ENST00000548109.1																			0																																																			0							g.chr14:19857036A>G																													14.37:g.19857036A>G														0	72	+									RNA	SNP	ENST00000548109.1	37																																																																																						0.373	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			4	118	0	0	0	1	0	4	118				
SLC22A13	9390	broad.mit.edu	37	3	38317561	38317561	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr3:38317561G>T	ENST00000311856.4	+	7	1260	c.1211G>T	c.(1210-1212)tGt>tTt	p.C404F	SLC22A13_ENST00000450935.2_3'UTR	NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	404					nicotinate transport (GO:2001142)|organic cation transport (GO:0015695)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	nicotinate transporter activity (GO:0090416)|organic cation transmembrane transporter activity (GO:0015101)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		GGCCTGATGTGTATCATCATC	0.597																																						ENST00000311856.4																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20						c.(1210-1212)tGt>tTt		solute carrier family 22 (organic anion/urate transporter), member 13							79.0	54.0	62.0					3																	38317561		2203	4300	6503	SO:0001583	missense	9390					integral to plasma membrane	organic cation transmembrane transporter activity	g.chr3:38317561G>T	AB010438	CCDS2676.1	3p22.2	2013-07-18	2013-07-18	2003-10-15	ENSG00000172940	ENSG00000172940		"""Solute carriers"""	8494	protein-coding gene	gene with protein product		604047	"""organic cationic transporter-like 3"", ""solute carrier family 22 (organic anion transporter), member 13"""	ORCTL3		10072596, 18411268	Standard	NM_004256		Approved	OCTL1, OCTL3, OAT10	uc003chz.3	Q9Y226	OTTHUMG00000131086	ENST00000311856.4:c.1211G>T	3.37:g.38317561G>T	ENSP00000310241:p.Cys404Phe					SLC22A13_ENST00000450935.2_3'UTR	p.C404F	NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)	7	1260	+			404					B2RCV9|Q8IYG1	Missense_Mutation	SNP	ENST00000311856.4	37	c.1211G>T	CCDS2676.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.169996	0.57584	.	.	ENSG00000172940	ENST00000311856	T	0.73681	-0.77	5.16	3.27	0.37495	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.138544	0.64402	D	0.000002	D	0.84853	0.5564	M	0.86864	2.845	0.80722	D	1	D;P	0.69078	0.997;0.921	D;P	0.65443	0.935;0.844	D	0.83855	0.0265	10	0.46703	T	0.11	.	9.9436	0.41596	0.077:0.17:0.753:0.0	.	404;404	Q9Y226-2;Q9Y226	.;S22AD_HUMAN	F	404	ENSP00000310241:C404F	ENSP00000310241:C404F	C	+	2	0	SLC22A13	38292565	1.000000	0.71417	0.338000	0.25549	0.667000	0.39255	3.449000	0.52950	0.571000	0.29365	0.655000	0.94253	TGT		0.597	SLC22A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253746.2	NM_004256		7	6	1	0	5.4927e-09	1	6.12648e-09	7	6				
PLP1	5354	broad.mit.edu	37	X	103045489	103045489	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chrX:103045489C>T	ENST00000303958.2	+	7	943	c.797C>T	c.(796-798)gCc>gTc	p.A266V	PLP1_ENST00000466486.1_3'UTR|PLP1_ENST00000361621.2_Missense_Mutation_p.A231V|PLP1_ENST00000418604.1_Missense_Mutation_p.A266V	NM_000533.3	NP_000524.3	P60201	MYPR_HUMAN	proteolipid protein 1	266					astrocyte development (GO:0014002)|axon development (GO:0061564)|axon ensheathment (GO:0008366)|cell death (GO:0008219)|cell maturation (GO:0048469)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|long-chain fatty acid biosynthetic process (GO:0042759)|positive regulation of gene expression (GO:0010628)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	structural constituent of myelin sheath (GO:0019911)|structural molecule activity (GO:0005198)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						TACAACTTTGCCGTCCTTAAA	0.488																																						ENST00000418604.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						c.(796-798)gCc>gTc		proteolipid protein 1							229.0	202.0	211.0					X																	103045489		2203	4300	6503	SO:0001583	missense	5354				cell death|synaptic transmission	integral to membrane		g.chrX:103045489C>T	M27110	CCDS14513.1, CCDS14514.1	Xq22	2013-05-14	2008-07-28		ENSG00000123560	ENSG00000123560			9086	protein-coding gene	gene with protein product	"""Pelizaeus-Merzbacher disease"""	300401	"""spastic paraplegia 2, uncomplicated"""	SPG2, PLP			Standard	NM_001128834		Approved	GPM6C	uc004elk.3	P60201	OTTHUMG00000022111	ENST00000303958.2:c.797C>T	X.37:g.103045489C>T	ENSP00000305152:p.Ala266Val					PLP1_ENST00000361621.2_Missense_Mutation_p.A231V|PLP1_ENST00000303958.2_Missense_Mutation_p.A266V|PLP1_ENST00000466486.1_3'UTR	p.A266V	NM_001128834.1	NP_001122306.1	P60201	MYPR_HUMAN			8	1077	+			266					P04400|P06905|Q502Y1|Q6FHZ6	Missense_Mutation	SNP	ENST00000303958.2	37	c.797C>T	CCDS14513.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.256084	0.80246	.	.	ENSG00000123560	ENST00000418604;ENST00000303958;ENST00000361621;ENST00000428755	D;D;D	0.99548	-6.14;-6.14;-6.14	5.62	5.62	0.85841	.	0.048992	0.85682	D	0.000000	D	0.99462	0.9809	L	0.61036	1.89	0.80722	D	1	D;D;D;D	0.69078	0.997;0.997;0.997;0.988	D;D;D;D	0.80764	0.994;0.989;0.989;0.931	D	0.98662	1.0684	10	0.62326	D	0.03	0.0987	15.8551	0.78972	0.0:1.0:0.0:0.0	.	211;266;266;231	B4DI30;A8K9L3;P60201;P60201-2	.;.;MYPR_HUMAN;.	V	266;266;231;244	ENSP00000405750:A266V;ENSP00000305152:A266V;ENSP00000354860:A231V	ENSP00000305152:A266V	A	+	2	0	PLP1	102932145	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.298000	0.78815	2.343000	0.79666	0.594000	0.82650	GCC		0.488	PLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057743.2			4	231	0	0	0	1	0	4	231				
PRKG1	5592	broad.mit.edu	37	10	53893606	53893606	+	Silent	SNP	T	T	C			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr10:53893606T>C	ENST00000401604.2	+	8	1091	c.897T>C	c.(895-897)gaT>gaC	p.D299D	PRKG1_ENST00000373975.2_Silent_p.D17D|PRKG1_ENST00000373985.1_Silent_p.D287D|PRKG1_ENST00000373980.4_Silent_p.D314D			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	299	cGMP-binding, low affinity.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		ATAGGGAAGATGTGAGAACAG	0.318																																						ENST00000373980.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53						c.(940-942)gaT>gaC		protein kinase, cGMP-dependent, type I							155.0	157.0	156.0					10																	53893606		2203	4300	6503	SO:0001819	synonymous_variant	5592				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr10:53893606T>C		CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.897T>C	10.37:g.53893606T>C						PRKG1_ENST00000401604.2_Silent_p.D299D|PRKG1_ENST00000373975.2_Silent_p.D17D|PRKG1_ENST00000373985.1_Silent_p.D287D	p.D314D	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)	8	1359	+		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)	299					A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Silent	SNP	ENST00000401604.2	37	c.942T>C	CCDS44399.1																																																																																				0.318	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				12	19	0	0	0	1	0	12	19				
USP14	9097	broad.mit.edu	37	18	197675	197675	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr18:197675A>G	ENST00000261601.7	+	8	745	c.654A>G	c.(652-654)atA>atG	p.I218M	USP14_ENST00000400266.3_Missense_Mutation_p.I207M|USP14_ENST00000383589.2_Missense_Mutation_p.I172M|USP14_ENST00000582707.1_Missense_Mutation_p.I183M	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	218	USP.				negative regulation of endopeptidase activity (GO:0010951)|protein deubiquitination (GO:0016579)|regulation of chemotaxis (GO:0050920)|regulation of proteasomal protein catabolic process (GO:0061136)|synaptic transmission (GO:0007268)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)|synapse (GO:0045202)	cysteine-type endopeptidase activity (GO:0004197)|endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)|tRNA guanylyltransferase activity (GO:0008193)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TGGAAGCAATAGAGGATGATT	0.308																																						ENST00000261601.6																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11						c.(652-654)atA>atG		ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)							110.0	118.0	115.0					18																	197675		2203	4299	6502	SO:0001583	missense	9097				regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr18:197675A>G	U30888	CCDS32780.1, CCDS32781.1	18p11.32	2006-10-06	2005-08-08			ENSG00000101557		"""Ubiquitin-specific peptidases"""	12612	protein-coding gene	gene with protein product		607274	"""ubiquitin specific protease 14 (tRNA-guanine transglycosylase)"""			12838346	Standard	NM_001037334		Approved	TGT	uc002kkf.1	P54578		ENST00000261601.7:c.654A>G	18.37:g.197675A>G	ENSP00000261601:p.Ile218Met					USP14_ENST00000383589.2_Missense_Mutation_p.I172M|USP14_ENST00000582707.1_Missense_Mutation_p.I183M|USP14_ENST00000400266.3_Missense_Mutation_p.I207M	p.I218M	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN			8	745	+		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)	218					J3QRZ5|Q53XY5	Missense_Mutation	SNP	ENST00000261601.7	37	c.654A>G	CCDS32780.1	.	.	.	.	.	.	.	.	.	.	A	15.61	2.884672	0.51908	.	.	ENSG00000101557	ENST00000261601;ENST00000383589;ENST00000400266	T;T	0.31510	1.49;1.49	5.72	4.55	0.56014	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.271361	0.40302	N	0.001133	T	0.32823	0.0842	L	0.48642	1.525	0.45172	D	0.998185	B;P;B	0.35155	0.158;0.487;0.158	B;B;B	0.40534	0.285;0.332;0.285	T	0.06391	-1.0829	10	0.48119	T	0.1	-15.474	13.0352	0.58867	0.8654:0.1346:0.0:0.0	.	207;183;218	B7Z4N8;A6NJA2;P54578	.;.;UBP14_HUMAN	M	218;183;207	ENSP00000261601:I218M;ENSP00000383125:I207M	ENSP00000261601:I218M	I	+	3	3	USP14	187675	0.999000	0.42202	1.000000	0.80357	0.990000	0.78478	0.824000	0.27379	0.966000	0.38159	0.528000	0.53228	ATA		0.308	USP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440305.3	NM_005151		3	39	0	0	0	1	0	3	39				
MYO3B	140469	broad.mit.edu	37	2	171259406	171259406	+	Silent	SNP	C	C	T			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr2:171259406C>T	ENST00000408978.4	+	19	2321	c.2178C>T	c.(2176-2178)ttC>ttT	p.F726F	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Silent_p.F726F|MYO3B_ENST00000334231.6_Silent_p.F735F	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	726	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TCTTTGGATTCGAGAATTTTC	0.418																																						ENST00000334231.6																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						c.(2203-2205)ttC>ttT		myosin IIIB							130.0	120.0	123.0					2																	171259406		1869	4105	5974	SO:0001819	synonymous_variant	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171259406C>T		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.2178C>T	2.37:g.171259406C>T						MYO3B_ENST00000408978.4_Silent_p.F726F|MYO3B_ENST00000409044.3_Silent_p.F726F|MYO3B_ENST00000602629.1_3'UTR	p.F735F			Q8WXR4	MYO3B_HUMAN			19	2205	+			726			Myosin head-like.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Silent	SNP	ENST00000408978.4	37	c.2205C>T	CCDS42773.1																																																																																				0.418	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			40	52	0	0	0	1	0	40	52				
LY9	4063	broad.mit.edu	37	1	160786485	160786485	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr1:160786485G>A	ENST00000263285.6	+	5	1204	c.1174G>A	c.(1174-1176)Gtc>Atc	p.V392I	LY9_ENST00000368041.2_Intron|LY9_ENST00000368040.1_Missense_Mutation_p.V44I|LY9_ENST00000392203.4_Intron|LY9_ENST00000341032.4_Intron|LY9_ENST00000368037.5_Missense_Mutation_p.V392I			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	392	Ig-like C2-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GGGAAACACTGTCATGTACAC	0.557																																						ENST00000263285.5																			0				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(1174-1176)Gtc>Atc		lymphocyte antigen 9							125.0	97.0	107.0					1																	160786485		2203	4300	6503	SO:0001583	missense	4063				cell adhesion|immunoglobulin mediated immune response	integral to membrane		g.chr1:160786485G>A	L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.1174G>A	1.37:g.160786485G>A	ENSP00000263285:p.Val392Ile					LY9_ENST00000368041.2_Intron|LY9_ENST00000368040.1_Missense_Mutation_p.V44I|LY9_ENST00000341032.4_Intron|LY9_ENST00000368035.1_Missense_Mutation_p.V44I	p.V392I	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		5	1204	+	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		392			Ig-like C2-type 2.		A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Missense_Mutation	SNP	ENST00000263285.6	37	c.1174G>A	CCDS30916.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.488244	0.64074	.	.	ENSG00000122224	ENST00000368041;ENST00000368040;ENST00000263285;ENST00000368037;ENST00000368035	T;T;T	0.53423	0.62;0.62;0.62	4.76	4.76	0.60689	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.58821	0.2149	M	0.74258	2.255	0.09310	N	1	D;D;D	0.69078	0.961;0.996;0.997	P;D;D	0.80764	0.857;0.99;0.994	T	0.53308	-0.8457	9	0.72032	D	0.01	-5.2946	13.6423	0.62257	0.0:0.0:1.0:0.0	.	44;392;392	Q5VYI1;Q9HBG7-2;Q9HBG7	.;.;LY9_HUMAN	I	392;44;392;352;44	ENSP00000357019:V44I;ENSP00000263285:V392I;ENSP00000357014:V44I	ENSP00000263285:V392I	V	+	1	0	LY9	159053109	0.617000	0.27043	0.017000	0.16124	0.001000	0.01503	2.638000	0.46562	2.328000	0.79073	0.563000	0.77884	GTC		0.557	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3	NM_002348		3	33	0	0	0	1	0	3	33				
ELOVL6	79071	broad.mit.edu	37	4	110972670	110972670	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr4:110972670T>G	ENST00000394607.3	-	5	785	c.622A>C	c.(622-624)Atg>Ctg	p.M208L	ELOVL6_ENST00000302274.3_Missense_Mutation_p.M208L			Q9H5J4	ELOV6_HUMAN	ELOVL fatty acid elongase 6	208					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty acid biosynthetic process (GO:0042759)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		ACACAGCCCATCAGCATCTGA	0.522																																						ENST00000394607.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(622-624)Atg>Ctg		ELOVL fatty acid elongase 6							113.0	97.0	103.0					4																	110972670		2203	4300	6503	SO:0001583	missense	79071				fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process		fatty acid elongase activity|protein binding	g.chr4:110972670T>G	AK027031	CCDS3690.1	4q25	2011-05-25	2011-05-25		ENSG00000170522	ENSG00000170522			15829	protein-coding gene	gene with protein product		611546	"""ELOVL family member 6, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)"""			11567032	Standard	NM_024090		Approved	FLJ23378, MGC5487, LCE	uc003hzz.3	Q9H5J4	OTTHUMG00000132547	ENST00000394607.3:c.622A>C	4.37:g.110972670T>G	ENSP00000378105:p.Met208Leu					ELOVL6_ENST00000302274.3_Missense_Mutation_p.M208L	p.M208L			Q9H5J4	ELOV6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00462)	5	785	-			208					Q4W5L0|Q8NCD1	Missense_Mutation	SNP	ENST00000394607.3	37	c.622A>C	CCDS3690.1	.	.	.	.	.	.	.	.	.	.	T	13.77	2.336113	0.41398	.	.	ENSG00000170522	ENST00000394607;ENST00000302274	T;T	0.19250	2.16;2.16	5.97	3.52	0.40303	.	0.231201	0.64402	N	0.000020	T	0.11922	0.0290	L	0.31065	0.9	0.41206	D	0.986406	B	0.02656	0.0	B	0.06405	0.002	T	0.13737	-1.0498	10	0.09338	T	0.73	-10.5153	6.6914	0.23174	0.0:0.1773:0.1237:0.699	.	208	Q9H5J4	ELOV6_HUMAN	L	208	ENSP00000378105:M208L;ENSP00000304736:M208L	ENSP00000304736:M208L	M	-	1	0	ELOVL6	111192119	0.993000	0.37304	1.000000	0.80357	0.996000	0.88848	0.621000	0.24418	0.495000	0.27882	0.533000	0.62120	ATG		0.522	ELOVL6-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255748.1	NM_024090		18	29	0	0	0	1	0	18	29				
MUC16	94025	broad.mit.edu	37	19	9089879	9089879	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr19:9089879C>T	ENST00000397910.4	-	1	2139	c.1936G>A	c.(1936-1938)Ggt>Agt	p.G646S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	646	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.G646S(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTGGGACACCGTTCGTGGCC	0.562																																						ENST00000397910.4																			2	Substitution - Missense(2)	p.G646S(2)	lung(2)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(1936-1938)Ggt>Agt		mucin 16, cell surface associated							123.0	127.0	126.0					19																	9089879		2158	4272	6430	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9089879C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.1936G>A	19.37:g.9089879C>T	ENSP00000381008:p.Gly646Ser						p.G646S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	2139	-			646			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.1936G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	5.752	0.323132	0.10900	.	.	ENSG00000181143	ENST00000397910	T	0.03468	3.92	1.56	0.489	0.16854	.	.	.	.	.	T	0.01905	0.0060	N	0.08118	0	.	.	.	B	0.22480	0.07	B	0.09377	0.004	T	0.41484	-0.9506	8	0.87932	D	0	.	3.2002	0.06647	0.0:0.2599:0.0:0.7401	.	646	B5ME49	.	S	646	ENSP00000381008:G646S	ENSP00000381008:G646S	G	-	1	0	MUC16	8950879	0.000000	0.05858	0.003000	0.11579	0.068000	0.16541	-0.659000	0.05323	0.093000	0.17368	0.205000	0.17691	GGT		0.562	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		32	52	0	0	0	1	0	32	52				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	4	23	0	0	0	1	0	4	23				
COX20	116228	broad.mit.edu	37	1	245005361	245005361	+	Splice_Site	SNP	G	G	C			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr1:245005361G>C	ENST00000411948.2	+	2	550		c.e2+1		COX20_ENST00000498262.1_Splice_Site|COX20_ENST00000366528.3_Splice_Site	NM_198076.4	NP_932342.1	Q5RI15	COX20_HUMAN	COX20 cytochrome C oxidase assembly factor							integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)											TTGTTCACTAGTGAGTATCTG	0.323																																						ENST00000411948.2																			0											c.e2+1		COX20 cytochrome C oxidase assembly factor							81.0	73.0	76.0					1																	245005361		2203	4300	6503	SO:0001630	splice_region_variant	116228					integral to membrane		g.chr1:245005361G>C	BC062419	CCDS31080.1	1q44	2013-05-24	2013-05-23	2012-02-24	ENSG00000203667	ENSG00000203667		"""Mitochondrial respiratory chain complex assembly factors"""	26970	protein-coding gene	gene with protein product		614698	"""family with sequence similarity 36, member A"", ""COX20 Cox2 chaperone homolog (S. cerevisiae)"""	FAM36A		22356826, 23125284	Standard	NM_198076		Approved	FLJ43269	uc001iar.3	Q5RI15	OTTHUMG00000040401	ENST00000411948.2:c.157+1G>C	1.37:g.245005361G>C						COX20_ENST00000366528.3_Splice_Site|COX20_ENST00000498262.1_Splice_Site		NM_198076.4	NP_932342.1	Q5RI15	FA36A_HUMAN			2	550	+								Q8WV86	Splice_Site	SNP	ENST00000411948.2	37		CCDS31080.1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.824714	0.71143	.	.	ENSG00000203667	ENST00000411948;ENST00000366528	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1669	0.98153	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM36A	243071984	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	7.601000	0.82783	2.770000	0.95276	0.650000	0.86243	.		0.323	COX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097174.1	NM_198076	Intron	12	33	0	0	0	1	0	12	33				
SPOCK2	9806	broad.mit.edu	37	10	73827469	73827469	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr10:73827469A>G	ENST00000373109.2	-	7	1055	c.611T>C	c.(610-612)cTg>cCg	p.L204P	SPOCK2_ENST00000460053.1_5'UTR|SPOCK2_ENST00000317376.4_Missense_Mutation_p.L204P|SPOCK2_ENST00000536168.1_Missense_Mutation_p.L204P	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2	204					extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of cell differentiation (GO:0045595)|signal transduction (GO:0007165)|synapse assembly (GO:0007416)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CAGGTCAGCCAGGTCCTGACC	0.612																																						ENST00000373109.2																			0				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(610-612)cTg>cCg		sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2							33.0	32.0	33.0					10																	73827469		2203	4300	6503	SO:0001583	missense	9806				extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding	g.chr10:73827469A>G	AJ001453	CCDS7313.1, CCDS44431.1	10q22.1	2013-09-19			ENSG00000107742	ENSG00000107742			13564	protein-coding gene	gene with protein product		607988				10386950	Standard	NM_014767		Approved	KIAA0275, testican-2	uc001jso.2	Q92563	OTTHUMG00000018430	ENST00000373109.2:c.611T>C	10.37:g.73827469A>G	ENSP00000362201:p.Leu204Pro					SPOCK2_ENST00000317376.4_Missense_Mutation_p.L204P|SPOCK2_ENST00000536168.1_Missense_Mutation_p.L204P|SPOCK2_ENST00000460053.1_5'UTR	p.L204P	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN			7	1055	-			204					C9J767|Q6UW87	Missense_Mutation	SNP	ENST00000373109.2	37	c.611T>C	CCDS7313.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.650891	0.87958	.	.	ENSG00000107742	ENST00000373109;ENST00000317376;ENST00000536168	T;T	0.59638	0.25;0.25	5.82	5.82	0.92795	SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1);	0.000000	0.64402	D	0.000001	T	0.78997	0.4372	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82627	-0.0364	10	0.87932	D	0	.	15.8434	0.78868	1.0:0.0:0.0:0.0	.	204	Q92563	TICN2_HUMAN	P	201;204;204	ENSP00000321108:L204P;ENSP00000439445:L204P	ENSP00000321108:L204P	L	-	2	0	SPOCK2	73497475	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	8.864000	0.92294	2.224000	0.72417	0.459000	0.35465	CTG		0.612	SPOCK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048560.2			4	3	0	0	0	1	0	4	3				
GPR125	166647	broad.mit.edu	37	4	22390767	22390767	+	Silent	SNP	G	G	A	rs138178541	byFrequency	TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr4:22390767G>A	ENST00000334304.5	-	18	2936	c.2667C>T	c.(2665-2667)tgC>tgT	p.C889C	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	889					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)	p.C889C(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CAGTTATGCCGCAAACAATGA	0.423																																						ENST00000334304.5																			1	Substitution - coding silent(1)	p.C889C(1)	lung(1)	breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(2665-2667)tgC>tgT		G protein-coupled receptor 125		G		2,4404	4.2+/-10.8	0,2,2201	200.0	204.0	203.0		2667	-1.1	0.7	4	dbSNP_134	203	0,8600		0,0,4300	no	coding-synonymous	GPR125	NM_145290.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		889/1322	22390767	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22390767G>A	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.2667C>T	4.37:g.22390767G>A						GPR125_ENST00000282943.5_5'UTR	p.C889C	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN			18	2936	-		Breast(46;0.198)	889					Q6UXK9|Q86SQ5|Q8TC55	Silent	SNP	ENST00000334304.5	37	c.2667C>T	CCDS33964.1																																																																																				0.423	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			4	186	0	0	0	1	0	4	186				
VWA2	340706	broad.mit.edu	37	10	116049184	116049184	+	Silent	SNP	C	C	T			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr10:116049184C>T	ENST00000392982.3	+	12	2308	c.2058C>T	c.(2056-2058)atC>atT	p.I686I	VWA2_ENST00000603594.1_Silent_p.I686I			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	686	VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium-independent cell-matrix adhesion (GO:0007161)|protein homooligomerization (GO:0051260)|regulation of insulin receptor signaling pathway (GO:0046626)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		ATTCCCTGATCCACGTGGCAG	0.627																																						ENST00000603594.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26						c.(2056-2058)atC>atT		von Willebrand factor A domain containing 2							141.0	110.0	121.0					10																	116049184		2203	4300	6503	SO:0001819	synonymous_variant	340706					extracellular region		g.chr10:116049184C>T	AK127756	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			ENSG00000165816	ENSG00000165816			24709	protein-coding gene	gene with protein product						15580307, 14506275	Standard	NM_001272046		Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	Q5GFL6	OTTHUMG00000019082	ENST00000392982.3:c.2058C>T	10.37:g.116049184C>T						VWA2_ENST00000392982.3_Silent_p.I686I	p.I686I	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN		Epithelial(162;0.036)|all cancers(201;0.0793)	12	2379	+			686			VWFA 3.		A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Silent	SNP	ENST00000392982.3	37	c.2058C>T																																																																																					0.627	VWA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050456.3	NM_198496		14	28	0	0	0	1	0	14	28				
OR5R1	219479	broad.mit.edu	37	11	56185335	56185335	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr11:56185335G>A	ENST00000312253.1	-	1	373	c.374C>T	c.(373-375)gCc>gTc	p.A125V		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					ACTACAGATGGCGACATAGCA	0.463																																						ENST00000312253.1																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(373-375)gCc>gTc		olfactory receptor, family 5, subfamily R, member 1							108.0	104.0	105.0					11																	56185335		2201	4296	6497	SO:0001583	missense	219479				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56185335G>A	AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"""GPCR / Class A : Olfactory receptors"""	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.374C>T	11.37:g.56185335G>A	ENSP00000308595:p.Ala125Val						p.A125V	NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN			1	373	-	Esophageal squamous(21;0.00448)		125						Missense_Mutation	SNP	ENST00000312253.1	37	c.374C>T	CCDS31530.1	.	.	.	.	.	.	.	.	.	.	G	33	5.262189	0.95368	.	.	ENSG00000174942	ENST00000312253	T	0.01228	5.14	5.78	5.78	0.91487	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32608	U	0.005877	T	0.17023	0.0409	H	0.96996	3.92	0.42869	D	0.994139	D	0.89917	1.0	D	0.74674	0.984	T	0.11251	-1.0595	10	0.87932	D	0	-16.3264	19.5965	0.95541	0.0:0.0:1.0:0.0	.	125	Q8NH85	OR5R1_HUMAN	V	125	ENSP00000308595:A125V	ENSP00000308595:A125V	A	-	2	0	OR5R1	55941911	1.000000	0.71417	0.997000	0.53966	0.857000	0.48899	9.575000	0.98187	2.740000	0.93945	0.478000	0.44815	GCC		0.463	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334444.1	NM_001004744		24	32	0	0	0	1	0	24	32				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			15	28	0	0	0	1	0	15	28				
MACF1	23499	broad.mit.edu	37	1	39924150	39924150	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr1:39924150C>T	ENST00000372915.3	+	89	20968	c.20881C>T	c.(20881-20883)Cgc>Tgc	p.R6961C	MACF1_ENST00000567887.1_Missense_Mutation_p.R7099C|MACF1_ENST00000539005.1_Missense_Mutation_p.R4873C|MACF1_ENST00000317713.7_Missense_Mutation_p.R5003C|MACF1_ENST00000564288.1_Missense_Mutation_p.R7062C|MACF1_ENST00000361689.2_Missense_Mutation_p.R5003C|MACF1_ENST00000545844.1_Missense_Mutation_p.R5003C|MACF1_ENST00000289893.4_Missense_Mutation_p.R5505C			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6961					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.R5505S(1)|p.R5003S(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAGAAATCCCGCAGCGGAGG	0.468																																						ENST00000564288.1																			2	Substitution - Missense(2)	p.R5505S(1)|p.R5003S(1)	kidney(2)	breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(21184-21186)Cgc>Tgc		microtubule-actin crosslinking factor 1							66.0	68.0	67.0					1																	39924150		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39924150C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.20881C>T	1.37:g.39924150C>T	ENSP00000362006:p.Arg6961Cys					MACF1_ENST00000361689.2_Missense_Mutation_p.R5003C|MACF1_ENST00000372915.3_Missense_Mutation_p.R6961C|MACF1_ENST00000289893.4_Missense_Mutation_p.R5505C|MACF1_ENST00000317713.7_Missense_Mutation_p.R5003C|MACF1_ENST00000567887.1_Missense_Mutation_p.R7099C|MACF1_ENST00000539005.1_Missense_Mutation_p.R4873C|MACF1_ENST00000545844.1_Missense_Mutation_p.R5003C	p.R7062C			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		90	21961	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	6961			EF-hand 1.		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.21184C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.32|17.32	3.359802|3.359802	0.61403|0.61403	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	.|T;T;T;T;T;T	.|0.70631	.|-0.47;-0.4;-0.47;-0.5;-0.29;0.69	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	.|0.091117	.|0.48767	.|D	.|0.000168	T|T	0.79627|0.79627	0.4478|0.4478	L|L	0.48642|0.48642	1.525|1.525	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.76575	.|0.988;0.962	T|T	0.80797|0.80797	-0.1222|-0.1222	5|10	.|0.87932	.|D	.|0	.|.	14.6033|14.6033	0.68456|0.68456	0.1458:0.8542:0.0:0.0|0.1458:0.8542:0.0:0.0	.|.	.|6961;5003	.|Q9UPN3;F8W8Q1	.|MACF1_HUMAN;.	L|C	4006|5003;6961;5003;5003;4873;5505	.|ENSP00000439537:R5003C;ENSP00000362006:R6961C;ENSP00000354573:R5003C;ENSP00000313438:R5003C;ENSP00000444364:R4873C;ENSP00000289893:R5505C	.|ENSP00000289893:R5505C	P|R	+|+	2|1	0|0	MACF1|MACF1	39696737|39696737	1.000000|1.000000	0.71417|0.71417	0.916000|0.916000	0.36221|0.36221	0.189000|0.189000	0.23516|0.23516	4.780000|4.780000	0.62382|0.62382	2.677000|2.677000	0.91161|0.91161	0.561000|0.561000	0.74099|0.74099	CCG|CGC		0.468	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		16	2	0	0	0	1	0	16	2				
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	lincRNA	SNP	A	A	G	rs201023195		TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr1:142713774A>G	ENST00000610091.1	-	0	1884																											CTTTTTCCACATTGTCATTTT	0.284																																						ENST00000369381.2																			0																																																			0							g.chr1:142713774A>G																													1.37:g.142713774A>G														0	831	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			3	38	0	0	0	1	0	3	38				
SMC4	10051	broad.mit.edu	37	3	160149454	160149454	+	Silent	SNP	T	T	A			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr3:160149454T>A	ENST00000357388.3	+	21	3589	c.3138T>A	c.(3136-3138)ccT>ccA	p.P1046P	RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000469762.1_Silent_p.P1021P|SMC4_ENST00000462787.1_Silent_p.P988P|SMC4_ENST00000360111.2_Silent_p.P988P|SMC4_ENST00000344722.5_Silent_p.P1046P	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	1046					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CACTGCATCCTATAGAAGATA	0.313																																						ENST00000357388.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(3136-3138)ccT>ccA		structural maintenance of chromosomes 4							41.0	47.0	45.0					3																	160149454		2202	4298	6500	SO:0001819	synonymous_variant	10051				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	g.chr3:160149454T>A	AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.3138T>A	3.37:g.160149454T>A						RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Silent_p.P988P|SMC4_ENST00000344722.5_Silent_p.P1046P|SMC4_ENST00000360111.2_Silent_p.P988P|SMC4_ENST00000469762.1_Silent_p.P1021P	p.P1046P	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		21	3589	+			1046					A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Silent	SNP	ENST00000357388.3	37	c.3138T>A	CCDS3189.1																																																																																				0.313	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1			18	24	0	0	0	1	0	18	24				
APCDD1	147495	broad.mit.edu	37	18	10487787	10487787	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr18:10487787G>A	ENST00000355285.5	+	5	1651	c.1297G>A	c.(1297-1299)Ggg>Agg	p.G433R		NM_153000.4	NP_694545.1			adenomatosis polyposis coli down-regulated 1											NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		GGATGCCCGGGGGCGCTATCT	0.597																																						ENST00000355285.4																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1297-1299)Ggg>Agg		adenomatosis polyposis coli down-regulated 1							77.0	74.0	75.0					18																	10487787		2203	4300	6503	SO:0001583	missense	147495				hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding	g.chr18:10487787G>A	AB056722	CCDS11849.1	18p11.21	2006-07-07			ENSG00000154856	ENSG00000154856			15718	protein-coding gene	gene with protein product		607479				12384519	Standard	NM_153000		Approved	B7323	uc002kom.4	Q8J025	OTTHUMG00000131635	ENST00000355285.5:c.1297G>A	18.37:g.10487787G>A	ENSP00000347433:p.Gly433Arg						p.G433R	NM_153000.4	NP_694545.1	Q8J025	APCD1_HUMAN		READ - Rectum adenocarcinoma(15;0.08)	5	1651	+			433						Missense_Mutation	SNP	ENST00000355285.5	37	c.1297G>A	CCDS11849.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.815436	0.90790	.	.	ENSG00000154856	ENST00000355285;ENST00000423585	T	0.16457	2.34	5.18	4.29	0.51040	.	0.000000	0.85682	D	0.000000	T	0.38746	0.1052	M	0.79693	2.465	0.80722	D	1	D	0.55800	0.973	P	0.58873	0.847	T	0.31280	-0.9949	10	0.72032	D	0.01	-39.2026	13.4601	0.61223	0.0758:0.0:0.9242:0.0	.	433	Q8J025	APCD1_HUMAN	R	433;484	ENSP00000347433:G433R	ENSP00000347433:G433R	G	+	1	0	APCDD1	10477787	1.000000	0.71417	0.990000	0.47175	0.994000	0.84299	7.597000	0.82733	2.567000	0.86603	0.563000	0.77884	GGG		0.597	APCDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254529.2	NM_153000		23	14	0	0	0	1	0	23	14				
NOS1	4842	broad.mit.edu	37	12	117701762	117701762	+	Silent	SNP	C	C	T			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr12:117701762C>T	ENST00000338101.4	-	12	2158	c.2154G>A	c.(2152-2154)acG>acA	p.T718T	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Silent_p.T718T			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)			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)		TCCAGACATGCGTGTTCCAGG	0.592																																					Esophageal Squamous(162;1748 2599 51982 52956)	ENST00000317775.6																			0				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.(2152-2154)acG>acA		nitric oxide synthase 1 (neuronal)	L-Citrulline(DB00155)						113.0	106.0	108.0					12																	117701762		2035	4179	6214	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.chr12:117701762C>T		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.2154G>A	12.37:g.117701762C>T						NOS1_ENST00000338101.4_Silent_p.T718T|NOS1_ENST00000344089.3_3'UTR	p.T718T	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	13	2839	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		718						Silent	SNP	ENST00000338101.4	37	c.2154G>A	CCDS55890.1																																																																																				0.592	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			3	56	0	0	0	1	0	3	56				
YWHAB	7529	broad.mit.edu	37	20	43532703	43532703	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr20:43532703A>G	ENST00000372839.3	+	4	644	c.370A>G	c.(370-372)Aaa>Gaa	p.K124E	YWHAB_ENST00000479421.1_3'UTR|YWHAB_ENST00000353703.4_Missense_Mutation_p.K124E	NM_003404.3	NP_003395.1	P31946	1433B_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta	124					activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cytoplasmic sequestering of protein (GO:0051220)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|MAPK cascade (GO:0000165)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of protein dephosphorylation (GO:0035308)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of catalytic activity (GO:0043085)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein heterooligomerization (GO:0051291)|protein targeting (GO:0006605)|Ras protein signal transduction (GO:0007265)|RNA metabolic process (GO:0016070)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1)	12		Myeloproliferative disorder(115;0.0122)				CTTGAAAATGAAAGGAGATTA	0.328																																						ENST00000372839.3																			0				breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1)	12						c.(370-372)Aaa>Gaa		tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide							87.0	87.0	87.0					20																	43532703		2203	4300	6503	SO:0001583	missense	7529				activation of MAPKK activity|activation of pro-apoptotic gene products|axon guidance|cytoplasmic sequestering of protein|epidermal growth factor receptor signaling pathway|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|mRNA metabolic process|negative regulation of protein dephosphorylation|nerve growth factor receptor signaling pathway|Ras protein signal transduction	centrosome|cytosol|melanosome|perinuclear region of cytoplasm	histone deacetylase binding|phosphoserine binding|protein domain specific binding	g.chr20:43532703A>G	X57346	CCDS13339.1	20q13.1	2013-12-03	2013-12-03		ENSG00000166913	ENSG00000166913			12849	protein-coding gene	gene with protein product	"""14-3-3 beta"", ""14-3-3 alpha"""	601289	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, alpha polypeptide"", ""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide"""	YWHAA		8617504, 7890696	Standard	NM_003404		Approved		uc002xmu.3	P31946	OTTHUMG00000032549	ENST00000372839.3:c.370A>G	20.37:g.43532703A>G	ENSP00000361930:p.Lys124Glu					YWHAB_ENST00000479421.1_3'UTR|YWHAB_ENST00000353703.4_Missense_Mutation_p.K124E	p.K124E	NM_003404.3	NP_003395.1	P31946	1433B_HUMAN			4	644	+		Myeloproliferative disorder(115;0.0122)	124					A8K9K2|E1P616	Missense_Mutation	SNP	ENST00000372839.3	37	c.370A>G	CCDS13339.1	.	.	.	.	.	.	.	.	.	.	A	33	5.270422	0.95429	.	.	ENSG00000166913	ENST00000353703;ENST00000372839	T;T	0.55234	0.53;0.53	5.74	5.74	0.90152	14-3-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.70876	0.3274	M	0.82517	2.595	0.80722	D	1	D	0.58268	0.982	P	0.56648	0.803	T	0.76337	-0.2996	10	0.87932	D	0	-20.9064	16.3426	0.83092	1.0:0.0:0.0:0.0	.	124	P31946	1433B_HUMAN	E	124	ENSP00000300161:K124E;ENSP00000361930:K124E	ENSP00000300161:K124E	K	+	1	0	YWHAB	42966117	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.255000	0.95524	2.317000	0.78254	0.460000	0.39030	AAA		0.328	YWHAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079386.3	NM_003404		22	40	0	0	0	1	0	22	40				
NPR2	4882	broad.mit.edu	37	9	35801065	35801065	+	Splice_Site	SNP	A	A	G			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr9:35801065A>G	ENST00000342694.2	+	7	1606		c.e7-1			NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2						bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TTTCCCCTTCAGCTCCACTTT	0.507																																						ENST00000342694.2																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45						c.e7-1		natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)						210.0	194.0	199.0					9																	35801065		2203	4300	6503	SO:0001630	splice_region_variant	4882				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity	g.chr9:35801065A>G	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.1352-1A>G	9.37:g.35801065A>G								NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		7	1606	+	all_epithelial(49;0.161)							B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Splice_Site	SNP	ENST00000342694.2	37		CCDS6590.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.348044	0.82132	.	.	ENSG00000159899	ENST00000342694	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1457	0.59461	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NPR2	35791065	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.441000	0.80485	2.134000	0.65973	0.460000	0.39030	.		0.507	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1		Intron	43	61	0	0	0	1	0	43	61				
KIAA1522	57648	broad.mit.edu	37	1	33235364	33235364	+	Missense_Mutation	SNP	C	C	T	rs201274811		TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr1:33235364C>T	ENST00000373480.1	+	5	603	c.500C>T	c.(499-501)cCg>cTg	p.P167L	KIAA1522_ENST00000401073.2_Missense_Mutation_p.P226L|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Missense_Mutation_p.P178L	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	167										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CTGGGACTCCCGCAGCATGTG	0.657																																						ENST00000401073.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(676-678)cCg>cTg		KIAA1522		C	LEU/PRO,,LEU/PRO	1,3947		0,1,1973	29.0	34.0	32.0		500,,677	4.1	0.6	1		32	2,8302		0,2,4150	yes	missense,intron,missense	KIAA1522	NM_001198972.1,NM_001198973.1,NM_020888.2	98,,98	0,3,6123	TT,TC,CC		0.0241,0.0253,0.0245	probably-damaging,,probably-damaging	167/1036,,226/1095	33235364	3,12249	1974	4152	6126	SO:0001583	missense	57648							g.chr1:33235364C>T	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.500C>T	1.37:g.33235364C>T	ENSP00000362579:p.Pro167Leu					KIAA1522_ENST00000373481.3_Missense_Mutation_p.P178L|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373480.1_Missense_Mutation_p.P167L	p.P226L	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN			5	747	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	167					B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Missense_Mutation	SNP	ENST00000373480.1	37	c.677C>T	CCDS55588.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.995159	0.35226	2.53E-4	2.41E-4	ENSG00000162522	ENST00000401073;ENST00000373481;ENST00000373480	T;T;T	0.29655	1.56;1.56;1.56	5.05	4.13	0.48395	.	0.000000	0.64402	D	0.000009	T	0.51753	0.1693	M	0.65498	2.005	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.962;0.962	T	0.54957	-0.8215	10	0.87932	D	0	-13.336	11.8458	0.52383	0.0:0.9181:0.0:0.0819	.	178;167;226	Q9P206-3;Q9P206;Q9P206-2	.;K1522_HUMAN;.	L	226;178;167	ENSP00000383851:P226L;ENSP00000362580:P178L;ENSP00000362579:P167L	ENSP00000362579:P167L	P	+	2	0	KIAA1522	33007951	0.999000	0.42202	0.550000	0.28217	0.149000	0.21700	4.561000	0.60809	1.251000	0.43983	0.491000	0.48974	CCG		0.657	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			6	4	0	0	0	1	0	6	4				
KRTAP1-1	81851	broad.mit.edu	37	17	39197549	39197549	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr17:39197549G>C	ENST00000306271.4	-	1	164	c.101C>G	c.(100-102)tCc>tGc	p.S34C		NM_030967.2	NP_112229.1	Q07627	KRA11_HUMAN	keratin associated protein 1-1	34			Missing (in allele KAP1.7). {ECO:0000269|PubMed:11841537}.|PSCSTSGTCGSSCCQPSCCETSSCQPRCCETSCCQPSCCQT SFCGFP -> R (in allele KAP1.6).			keratin filament (GO:0045095)		p.S34C(6)		NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCTGGCAGGAGCTGGTCTC	0.612																																						ENST00000306271.4																			6	Substitution - Missense(6)	p.S34C(6)	kidney(4)|lung(1)|prostate(1)	NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14						c.(100-102)tCc>tGc		keratin associated protein 1-1							49.0	62.0	58.0					17																	39197549		2018	4199	6217	SO:0001583	missense	81851					extracellular region|keratin filament		g.chr17:39197549G>C	AJ406926	CCDS42324.1	17q21.2	2014-06-05			ENSG00000188581	ENSG00000188581		"""Keratin associated proteins"""	16772	protein-coding gene	gene with protein product		608819				11279113	Standard	NM_030967		Approved	KAP1.1B, HB2A, KAP1.1, KAP1.1A	uc002hvw.1	Q07627	OTTHUMG00000133592	ENST00000306271.4:c.101C>G	17.37:g.39197549G>C	ENSP00000305975:p.Ser34Cys						p.S34C	NM_030967.2	NP_112229.1	Q07627	KRA11_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	164	-		Breast(137;0.000496)	34		Missing (in allele KAP1.7).|PSCSTSGTCGSSCCQPSCCETSSCQPRCCETSCCQPSCCQT SFCGFP -> R (in allele KAP1.6).			A6NC32|Q96S60|Q96S67	Missense_Mutation	SNP	ENST00000306271.4	37	c.101C>G	CCDS42324.1	.	.	.	.	.	.	.	.	.	.	G	0.085	-1.176298	0.01646	.	.	ENSG00000188581	ENST00000306271	T	0.16196	2.36	3.91	1.65	0.23941	.	.	.	.	.	T	0.01835	0.0058	N	0.00010	-3.04	0.22552	N	0.998996	B	0.02656	0.0	B	0.01281	0.0	T	0.40924	-0.9537	9	0.02654	T	1	.	7.8006	0.29172	0.1777:0.6415:0.1808:0.0	.	34	Q07627	KRA11_HUMAN	C	34	ENSP00000305975:S34C	ENSP00000305975:S34C	S	-	2	0	KRTAP1-1	36451075	1.000000	0.71417	0.987000	0.45799	0.816000	0.46133	1.227000	0.32576	0.919000	0.36945	-0.233000	0.12211	TCC		0.612	KRTAP1-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257696.1	NM_030967		4	73	0	0	0	1	0	4	73				
AC027612.3	0	broad.mit.edu	37	2	91887905	91887906	+	RNA	INS	-	-	T	rs374250838|rs369805878|rs199562278	byFrequency	TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr2:91887905_91887906insT	ENST00000436174.1	-	0	540																											GCTATTTTCCATTTTTTTTTTT	0.292														393	0.0784744	0.1354	0.0533	5008	,	,		61150	0.0546		0.0567	False		,,,				2504	0.0665					ENST00000436174.1																			0																																																			0							g.chr2:91887905_91887906insT																													2.37:g.91887916_91887916dupT														0	540	-									RNA	INS	ENST00000436174.1	37																																																																																						0.292	AC027612.3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338339.1			8	29						8	29	---	---	---	---
CTC-338M12.9	0	broad.mit.edu	37	5	180708776	180708777	+	lincRNA	INS	-	-	G	rs140221514|rs61118356		TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr5:180708776_180708777insG	ENST00000412295.2	+	0	238																											gggcggtaggagggggctggag	0.728																																						ENST00000412295.2																			0																																																			0							g.chr5:180708776_180708777insG																													5.37:g.180708781_180708781dupG														0	238	+									RNA	INS	ENST00000412295.2	37																																																																																						0.728	CTC-338M12.9-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000372940.1			3	4						3	4	---	---	---	---
MMP12	4321	broad.mit.edu	37	11	102738795	102738796	+	RNA	INS	-	-	T	rs200787919|rs68192524|rs5003690		TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr11:102738795_102738796insT	ENST00000532855.1	-	0	725_726							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.N211fs*20(2)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	AGGAACAAGTGGTGCCTAAGAA	0.416																																						ENST00000532855.1																			2	Insertion - Frameshift(2)	p.N211fs*20(2)	upper_aerodigestive_tract(1)|prostate(1)	autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26								matrix metallopeptidase 12 (macrophage elastase)	Acetohydroxamic Acid(DB00551)			3692,6		1844,4,1						-0.2	0.9		dbSNP_113	54	7905,5		3951,3,1	no	frameshift	MMP12	NM_002426.4		5795,7,2	A1A1,A1R,RR		0.0632,0.1622,0.0948				11597,11						4321				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102738795_102738796insT	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102738795_102738796insT										P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	0	725_726	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)						B2R9X8|B7ZLF6|Q2M1L9	RNA	INS	ENST00000532855.1	37																																																																																						0.416	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		4	8						4	8	---	---	---	---
IL9RP3	729486	broad.mit.edu	37	16	81973	81974	+	RNA	INS	-	-	GTCC	rs369213970	byFrequency	TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr16:81973_81974insGTCC	ENST00000568710.1	-	0	349																											ATCAGCAGGAGGCCCACCTCGT	0.614														377	0.0752796	0.2057	0.049	5008	,	,		9104	0.003		0.0437	False		,,,				2504	0.0245					ENST00000568710.1																			0																																																			0							g.chr16:81973_81974insGTCC																													16.37:g.81973_81974insGTCC														0	349	-									RNA	INS	ENST00000568710.1	37																																																																																						0.614	Z84812.4-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000420570.1			5	11						5	11	---	---	---	---
RP13-329D4.3	0	broad.mit.edu	37	20	26113543	26113543	+	lincRNA	DEL	A	A	-	rs375245697		TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr20:26113543delA	ENST00000416563.1	-	0	250																											TCTTTGCCTTAACAACATTAT	0.363																																						ENST00000416563.1																			0																																																			0							g.chr20:26113543delA																													20.37:g.26113543delA														0	250	-									RNA	DEL	ENST00000416563.1	37																																																																																						0.363	RP13-329D4.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000078482.1			4	4						4	4	---	---	---	---
