#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
MAST2	23139	broad.mit.edu	37	1	46493409	46493409	+	Silent	SNP	A	A	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr1:46493409A>T	ENST00000361297.2	+	17	2209	c.1926A>T	c.(1924-1926)ctA>ctT	p.L642L	MAST2_ENST00000372009.2_Silent_p.L572L	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2									p.L642L(1)		breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CCAGCCTCCTAATTACATCCA	0.423																																						ENST00000361297.2																			1	Substitution - coding silent(1)	p.L642L(1)	prostate(1)	breast(1)|lung(3)|ovary(5)|stomach(2)	11						c.(1924-1926)ctA>ctT		microtubule associated serine/threonine kinase 2							99.0	95.0	96.0					1																	46493409		1880	4141	6021	SO:0001819	synonymous_variant	23139				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	g.chr1:46493409A>T	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.1926A>T	1.37:g.46493409A>T						MAST2_ENST00000372008.1_Silent_p.L527L|MAST2_ENST00000372009.2_Silent_p.L572L	p.L642L	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN			17	2209	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		642			Protein kinase.			Silent	SNP	ENST00000361297.2	37	c.1926A>T	CCDS41326.1																																																																																				0.423	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		29	69	0	0	0	0.001786	0	29	69				
DNAH2	146754	broad.mit.edu	37	17	7680786	7680786	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr17:7680786C>G	ENST00000572933.1	+	33	6541	c.5081C>G	c.(5080-5082)tCa>tGa	p.S1694*	DNAH2_ENST00000389173.2_Nonsense_Mutation_p.S1694*			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1694	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.S1694*(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AATAAGTATTCAGAAGCCATC	0.507																																						ENST00000572933.1																			1	Substitution - Nonsense(1)	p.S1694*(1)	prostate(1)	NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(5080-5082)tCa>tGa		dynein, axonemal, heavy chain 2							261.0	259.0	260.0					17																	7680786		2203	4300	6503	SO:0001587	stop_gained	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7680786C>G	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.5081C>G	17.37:g.7680786C>G	ENSP00000458355:p.Ser1694*					DNAH2_ENST00000389173.2_Nonsense_Mutation_p.S1694*	p.S1694*			Q9P225	DYH2_HUMAN			33	6541	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	1694			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Nonsense_Mutation	SNP	ENST00000572933.1	37	c.5081C>G	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	45	11.874311	0.99612	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	.	.	.	5.51	5.51	0.81932	.	0.091941	0.47093	D	0.000247	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	18.1667	0.89731	0.0:1.0:0.0:0.0	.	.	.	.	X	1694	.	ENSP00000353818:S1694X	S	+	2	0	DNAH2	7621511	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.347000	0.59373	2.587000	0.87381	0.585000	0.79938	TCA		0.507	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		30	378	0	0	0	0.002836	0	30	378				
PARP14	54625	broad.mit.edu	37	3	122418827	122418827	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr3:122418827G>A	ENST00000474629.2	+	6	1692	c.1426G>A	c.(1426-1428)Ggc>Agc	p.G476S		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	476					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.G313S(1)|p.G476S(1)		NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CATTTCTCCAGGCAGGTATTT	0.398																																						ENST00000474629.2																			2	Substitution - Missense(2)	p.G313S(1)|p.G476S(1)	prostate(2)	NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50						c.(1426-1428)Ggc>Agc		poly (ADP-ribose) polymerase family, member 14							79.0	72.0	74.0					3																	122418827		1836	4079	5915	SO:0001583	missense	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122418827G>A	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.1426G>A	3.37:g.122418827G>A	ENSP00000418194:p.Gly476Ser						p.G476S	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	6	1692	+			476					B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	ENST00000474629.2	37	c.1426G>A	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	G	3.617	-0.078446	0.07184	.	.	ENSG00000173193	ENST00000474629;ENST00000398162	T	0.08807	3.05	5.32	2.47	0.30058	.	0.541551	0.17685	N	0.165474	T	0.05868	0.0153	L	0.38531	1.155	0.09310	N	1	B;P	0.37122	0.084;0.583	B;B	0.29942	0.037;0.109	T	0.34030	-0.9845	10	0.35671	T	0.21	.	7.8369	0.29376	0.2736:0.0:0.7264:0.0	.	476;476	Q460N5-4;Q460N5	.;PAR14_HUMAN	S	476;395	ENSP00000418194:G476S	ENSP00000381228:G395S	G	+	1	0	PARP14	123901517	0.006000	0.16342	0.002000	0.10522	0.009000	0.06853	1.131000	0.31406	0.338000	0.23692	-0.345000	0.07892	GGC		0.398	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		10	58	0	0	0	0.006214	0	10	58				
DNAH9	1770	broad.mit.edu	37	17	11572560	11572560	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr17:11572560G>A	ENST00000262442.4	+	16	2979	c.2911G>A	c.(2911-2913)Ggc>Agc	p.G971S	DNAH9_ENST00000454412.2_Missense_Mutation_p.G971S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	971	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.G971S(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCCACAAAATGGCTCTCCTCA	0.542																																						ENST00000262442.3																			1	Substitution - Missense(1)	p.G971S(1)	prostate(1)	NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(2911-2913)Ggc>Agc		dynein, axonemal, heavy chain 9							92.0	87.0	89.0					17																	11572560		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11572560G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.2911G>A	17.37:g.11572560G>A	ENSP00000262442:p.Gly971Ser					DNAH9_ENST00000454412.2_Missense_Mutation_p.G971S	p.G971S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	16	2979	+		Breast(5;0.0122)|all_epithelial(5;0.131)	971			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.2911G>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	9.117	1.008130	0.19199	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.25250	1.85;1.81	5.6	0.739	0.18324	.	1.088490	0.06909	N	0.807363	T	0.20700	0.0498	L	0.48642	1.525	0.09310	N	0.999997	B	0.16396	0.017	B	0.11329	0.006	T	0.34428	-0.9829	10	0.16420	T	0.52	.	6.7713	0.23594	0.3604:0.1374:0.5022:0.0	.	971	Q9NYC9	DYH9_HUMAN	S	971	ENSP00000262442:G971S;ENSP00000414874:G971S	ENSP00000262442:G971S	G	+	1	0	DNAH9	11513285	0.000000	0.05858	0.207000	0.23584	0.473000	0.32948	0.449000	0.21744	0.313000	0.23062	0.655000	0.94253	GGC		0.542	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		5	125	0	0	0	0.003080	0	5	125				
ABCA5	23461	broad.mit.edu	37	17	67252297	67252297	+	Splice_Site	SNP	C	C	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr17:67252297C>T	ENST00000392676.3	-	29	3923		c.e29+1		ABCA5_ENST00000392677.2_Splice_Site|ABCA5_ENST00000588877.1_Splice_Site			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5						cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.?(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	GAATAAATTACCTCCTCACAA	0.353																																						ENST00000392676.3																			1	Unknown(1)	p.?(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54						c.e29+1		ATP-binding cassette, sub-family A (ABC1), member 5							153.0	154.0	154.0					17																	67252297		2203	4300	6503	SO:0001630	splice_region_variant	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67252297C>T	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.3858+1G>A	17.37:g.67252297C>T						ABCA5_ENST00000392677.2_Splice_Site|ABCA5_ENST00000588877.1_Splice_Site				Q8WWZ7	ABCA5_HUMAN			29	3923	-	Breast(10;3.72e-11)							Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Splice_Site	SNP	ENST00000392676.3	37		CCDS11685.1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.823876	0.71143	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8552	0.96755	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCA5	64763892	1.000000	0.71417	1.000000	0.80357	0.611000	0.37282	6.748000	0.74877	2.861000	0.98227	0.655000	0.94253	.		0.353	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672	Intron	7	134	0	0	0	0.003080	0	7	134				
PPIL4	85313	broad.mit.edu	37	6	149826610	149826610	+	Silent	SNP	T	T	C			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr6:149826610T>C	ENST00000253329.2	-	13	1490	c.1458A>G	c.(1456-1458)aaA>aaG	p.K486K	PPIL4_ENST00000340881.2_Missense_Mutation_p.K119R	NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4	486					protein folding (GO:0006457)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)	p.K486K(1)		endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		TAGATTTTTCTTTATCTTTGG	0.338																																						ENST00000340881.2																			1	Substitution - coding silent(1)	p.K486K(1)	prostate(1)	endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13						c.(355-357)aAg>aGg		peptidylprolyl isomerase (cyclophilin)-like 4							161.0	154.0	156.0					6																	149826610		2203	4300	6503	SO:0001819	synonymous_variant	85313				protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding	g.chr6:149826610T>C		CCDS34550.1	6q25.1	2013-02-12			ENSG00000131013	ENSG00000131013		"""RNA binding motif (RRM) containing"""	15702	protein-coding gene	gene with protein product		607609					Standard	NM_139126		Approved		uc003qmo.2	Q8WUA2	OTTHUMG00000015788	ENST00000253329.2:c.1458A>G	6.37:g.149826610T>C						PPIL4_ENST00000253329.2_Silent_p.K486K	p.K119R			Q8WUA2	PPIL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)	3	889	-		Ovarian(120;0.0164)	483			PPIase cyclophilin-type.		B2RD34|Q7Z3Q5	Missense_Mutation	SNP	ENST00000253329.2	37	c.356A>G	CCDS34550.1	.	.	.	.	.	.	.	.	.	.	T	12.64	1.997558	0.35226	.	.	ENSG00000131013	ENST00000340881	.	.	.	6.05	4.88	0.63580	.	0.249820	0.42172	D	0.000760	T	0.29223	0.0727	.	.	.	0.21386	N	0.999704	.	.	.	.	.	.	T	0.21245	-1.0251	6	0.87932	D	0	.	8.7375	0.34537	0.0:0.1459:0.0:0.8541	.	.	.	.	R	119	.	ENSP00000344128:K119R	K	-	2	0	PPIL4	149868303	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.556000	0.36288	1.109000	0.41680	0.528000	0.53228	AAG		0.338	PPIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042642.1			14	95	0	0	0	0.001855	0	14	95				
CEP290	80184	broad.mit.edu	37	12	88514920	88514920	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr12:88514920T>C	ENST00000552810.1	-	14	1556	c.1213A>G	c.(1213-1215)Act>Gct	p.T405A	CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Missense_Mutation_p.T405A	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	405					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)		p.T405A(2)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TTCATATGAGTCTGTTGAGAA	0.383																																						ENST00000552810.1																			2	Substitution - Missense(2)	p.T405A(2)	prostate(2)	breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						c.(1213-1215)Act>Gct		centrosomal protein 290kDa							89.0	80.0	83.0					12																	88514920		1820	4080	5900	SO:0001583	missense	80184				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	g.chr12:88514920T>C	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.1213A>G	12.37:g.88514920T>C	ENSP00000448012:p.Thr405Ala					CEP290_ENST00000309041.7_Missense_Mutation_p.T405A|CEP290_ENST00000397838.3_5'UTR	p.T405A	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN			14	1556	-			405					Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	37	c.1213A>G	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	T	10.13	1.264762	0.23136	.	.	ENSG00000198707	ENST00000552810;ENST00000309041;ENST00000536998;ENST00000545139	T;T	0.63580	-0.04;-0.05	5.84	3.43	0.39272	.	0.428727	0.25711	N	0.028811	T	0.41719	0.1171	N	0.22421	0.69	0.80722	D	1	B;B	0.24920	0.114;0.114	B;B	0.24394	0.036;0.053	T	0.09975	-1.0650	10	0.13108	T	0.6	.	7.5783	0.27950	0.1267:0.0682:0.0:0.8051	.	405;405	Q05BJ6;O15078	.;CE290_HUMAN	A	405;405;405;307	ENSP00000448012:T405A;ENSP00000308021:T405A	ENSP00000308021:T405A	T	-	1	0	CEP290	87039051	1.000000	0.71417	0.911000	0.35937	0.254000	0.26022	3.678000	0.54627	0.447000	0.26695	0.482000	0.46254	ACT		0.383	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		3	43	0	0	0	0.004672	0	3	43				
JAK1	3716	broad.mit.edu	37	1	65301865	65301865	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr1:65301865A>C	ENST00000342505.4	-	23	3422	c.3174T>G	c.(3172-3174)ttT>ttG	p.F1058L		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	1058	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.F1058L(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	AGGCAATATAAAATTTAGATT	0.423			Mis		ALL																																	ENST00000342505.4				Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		1	Substitution - Missense(1)	p.F1058L(1)	prostate(1)	breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(3172-3174)ttT>ttG		Janus kinase 1							82.0	79.0	80.0					1																	65301865		1876	4127	6003	SO:0001583	missense	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65301865A>C	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.3174T>G	1.37:g.65301865A>C	ENSP00000343204:p.Phe1058Leu						p.F1058L	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	23	3422	-			1058			Protein kinase 2.		Q59GQ2|Q9UD26	Missense_Mutation	SNP	ENST00000342505.4	37	c.3174T>G	CCDS41346.1	.	.	.	.	.	.	.	.	.	.	A	16.03	3.008013	0.54361	.	.	ENSG00000162434	ENST00000342505	D	0.88896	-2.44	5.02	-1.65	0.08291	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.88559	0.6469	L	0.49256	1.55	0.58432	D	0.999993	D	0.89917	1.0	D	0.83275	0.996	D	0.87010	0.2122	9	0.59425	D	0.04	-5.1318	11.9287	0.52835	0.5409:0.0:0.4591:0.0	.	1058	P23458	JAK1_HUMAN	L	1058	ENSP00000343204:F1058L	ENSP00000343204:F1058L	F	-	3	2	JAK1	65074453	0.998000	0.40836	0.988000	0.46212	0.195000	0.23768	0.614000	0.24314	-0.176000	0.10707	-0.408000	0.06270	TTT		0.423	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		3	35	0	0	0	0.004672	0	3	35				
PRKCB	5579	broad.mit.edu	37	16	24104205	24104205	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr16:24104205G>A	ENST00000321728.7	+	6	798	c.623G>A	c.(622-624)aGc>aAc	p.S208N	PRKCB_ENST00000303531.7_Missense_Mutation_p.S208N|PRKCB_ENST00000482000.1_3'UTR	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	208	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.S208N(3)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	AAAAGTGAGAGCAAACAGAAG	0.443																																						ENST00000303531.7																			3	Substitution - Missense(3)	p.S208N(3)	prostate(3)	central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9						c.(622-624)aGc>aAc		protein kinase C, beta	Vitamin E(DB00163)						177.0	149.0	159.0					16																	24104205		2197	4300	6497	SO:0001583	missense	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:24104205G>A	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.623G>A	16.37:g.24104205G>A	ENSP00000318315:p.Ser208Asn					PRKCB_ENST00000321728.7_Missense_Mutation_p.S208N|PRKCB_ENST00000482000.1_3'UTR	p.S208N	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN			6	775	+			208			C2.		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	c.623G>A	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.819696	0.71028	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.69435	-0.4;-0.4	5.38	5.38	0.77491	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.58032	0.2094	L	0.28740	0.885	0.80722	D	1	B;B	0.10296	0.002;0.003	B;B	0.18561	0.008;0.022	T	0.51212	-0.8734	10	0.33940	T	0.23	.	18.4836	0.90820	0.0:0.0:1.0:0.0	.	208;208	P05771-2;P05771	.;KPCB_HUMAN	N	208	ENSP00000318315:S208N;ENSP00000305355:S208N	ENSP00000305355:S208N	S	+	2	0	PRKCB	24011706	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.328000	0.96403	2.681000	0.91329	0.650000	0.86243	AGC		0.443	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		9	104	0	0	0	0.008291	0	9	104				
WWC2	80014	broad.mit.edu	37	4	184182184	184182184	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr4:184182184T>C	ENST00000403733.3	+	11	1607	c.1408T>C	c.(1408-1410)Tat>Cat	p.Y470H	WWC2_ENST00000448232.2_Missense_Mutation_p.Y470H|WWC2_ENST00000504005.1_Missense_Mutation_p.Y152H|WWC2_ENST00000378925.3_Missense_Mutation_p.Y372H|WWC2_ENST00000513834.1_Missense_Mutation_p.Y470H	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	470	Ser-rich.				negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)	p.Y470H(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		CACCGAACTCTATTACAGCAG	0.502																																						ENST00000403733.3																			1	Substitution - Missense(1)	p.Y470H(1)	prostate(1)	NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32						c.(1408-1410)Tat>Cat		WW and C2 domain containing 2							79.0	76.0	77.0					4																	184182184		2203	4300	6503	SO:0001583	missense	80014							g.chr4:184182184T>C	BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"""WW, C2 and coiled-coil domain containing"""	24148	protein-coding gene	gene with protein product			"""WW, C2 and coiled-coil domain containing 2"""			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.1408T>C	4.37:g.184182184T>C	ENSP00000384222:p.Tyr470His					WWC2_ENST00000513834.1_Missense_Mutation_p.Y470H|WWC2_ENST00000378925.3_Missense_Mutation_p.Y372H|WWC2_ENST00000504005.1_Missense_Mutation_p.Y152H|WWC2_ENST00000448232.2_Missense_Mutation_p.Y470H	p.Y470H	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)	11	1607	+		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)	470			Ser-rich.		Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Missense_Mutation	SNP	ENST00000403733.3	37	c.1408T>C	CCDS34109.2	.	.	.	.	.	.	.	.	.	.	T	15.97	2.990502	0.54041	.	.	ENSG00000151718	ENST00000403733;ENST00000378925;ENST00000513834;ENST00000448232;ENST00000504005	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	4.86	4.86	0.63082	.	0.000000	0.64402	D	0.000006	T	0.68412	0.2998	M	0.86651	2.83	0.53688	D	0.999973	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.74362	-0.3690	10	0.56958	D	0.05	-15.8765	14.628	0.68635	0.0:0.0:0.0:1.0	.	470;470	Q6AWC2;Q6AWC2-4	WWC2_HUMAN;.	H	470;372;470;470;152	ENSP00000384222:Y470H;ENSP00000368205:Y372H;ENSP00000425054:Y470H;ENSP00000398577:Y470H;ENSP00000427569:Y152H	ENSP00000368205:Y372H	Y	+	1	0	WWC2	184419178	1.000000	0.71417	0.904000	0.35570	0.055000	0.15305	7.833000	0.86765	2.046000	0.60703	0.528000	0.53228	TAT		0.502	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319608.1	NM_024949		3	55	0	0	0	0.004672	0	3	55				
ACACB	32	broad.mit.edu	37	12	109639448	109639448	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr12:109639448T>A	ENST00000338432.7	+	19	2974	c.2855T>A	c.(2854-2856)cTg>cAg	p.L952Q	ACACB_ENST00000377854.5_Missense_Mutation_p.L952Q|ACACB_ENST00000377848.3_Missense_Mutation_p.L952Q			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	952	Biotinyl-binding. {ECO:0000255|PROSITE- ProRule:PRU01066}.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.L952Q(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GGTGCCGTGCTGGAAGCAGGC	0.552																																						ENST00000338432.7																			1	Substitution - Missense(1)	p.L952Q(1)	prostate(1)	NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(2854-2856)cTg>cAg		acetyl-CoA carboxylase beta	Biotin(DB00121)						134.0	109.0	118.0					12																	109639448		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109639448T>A	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.2855T>A	12.37:g.109639448T>A	ENSP00000341044:p.Leu952Gln					ACACB_ENST00000377854.5_Missense_Mutation_p.L952Q|ACACB_ENST00000377848.3_Missense_Mutation_p.L952Q	p.L952Q			O00763	ACACB_HUMAN			19	2974	+			952			Biotinyl-binding.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.2855T>A	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.518310	0.85495	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027	T;T;T	0.60299	0.2;0.2;0.2	5.39	5.39	0.77823	Single hybrid motif (1);Biotin/lipoyl attachment (2);	0.000000	0.64402	D	0.000001	T	0.79299	0.4422	M	0.86573	2.825	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83539	0.0095	10	0.87932	D	0	.	15.4307	0.75092	0.0:0.0:0.0:1.0	.	952	O00763	ACACB_HUMAN	Q	952;952;952;183	ENSP00000341044:L952Q;ENSP00000367079:L952Q;ENSP00000367085:L952Q	ENSP00000341044:L952Q	L	+	2	0	ACACB	108123831	1.000000	0.71417	0.998000	0.56505	0.785000	0.44390	7.946000	0.87746	2.044000	0.60594	0.459000	0.35465	CTG		0.552	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		7	79	0	0	0	0.003080	0	7	79				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																0							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		9	63	0	0	0	0.006214	0	9	63				
ZNF33A	7581	broad.mit.edu	37	10	38345420	38345420	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr10:38345420A>T	ENST00000458705.2	+	5	2523	c.2365A>T	c.(2365-2367)Agc>Tgc	p.S789C	ZNF33A_ENST00000374618.3_Missense_Mutation_p.S790C|ZNF33A_ENST00000307441.9_Missense_Mutation_p.S789C|ZNF33A_ENST00000432900.2_Missense_Mutation_p.S796C|ZNF33A_ENST00000469037.2_Intron			Q06730	ZN33A_HUMAN	zinc finger protein 33A	789					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S789C(1)		cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						GCCACAAGTCAGCCTCCATAA	0.378																																						ENST00000374618.3																			1	Substitution - Missense(1)	p.S789C(1)	prostate(1)	cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						c.(2368-2370)Agc>Tgc		zinc finger protein 33A							63.0	62.0	62.0					10																	38345420		2203	4300	6503	SO:0001583	missense	7581					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38345420A>T	D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.2365A>T	10.37:g.38345420A>T	ENSP00000387713:p.Ser789Cys					ZNF33A_ENST00000307441.9_Missense_Mutation_p.S789C|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000458705.2_Missense_Mutation_p.S789C|ZNF33A_ENST00000432900.2_Missense_Mutation_p.S796C	p.S790C	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN			5	2546	+			789					A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	ENST00000458705.2	37	c.2368A>T	CCDS31182.1	.	.	.	.	.	.	.	.	.	.	A	9.776	1.173924	0.21704	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	T;T;T;T	0.08008	3.14;3.33;3.14;3.14	1.34	1.34	0.21922	.	.	.	.	.	T	0.08223	0.0205	N	0.08118	0	0.09310	N	1	D;P;D	0.53462	0.96;0.932;0.96	P;P;P	0.56042	0.79;0.621;0.79	T	0.31420	-0.9944	9	0.87932	D	0	.	6.7574	0.23523	1.0:0.0:0.0:0.0	.	796;789;790	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	C	790;796;789;789	ENSP00000363747:S790C;ENSP00000402467:S796C;ENSP00000387713:S789C;ENSP00000304268:S789C	ENSP00000304268:S789C	S	+	1	0	ZNF33A	38385426	0.000000	0.05858	0.068000	0.19968	0.058000	0.15608	0.131000	0.15870	0.864000	0.35578	0.260000	0.18958	AGC		0.378	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		16	59	0	0	0	0.003163	0	16	59				
KRTAP10-4	386672	broad.mit.edu	37	21	45993895	45993895	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr21:45993895C>T	ENST00000400374.3	+	1	290	c.260C>T	c.(259-261)cCc>cTc	p.P87L	TSPEAR_ENST00000397916.1_5'Flank|TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	87	36 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.P87L(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						TCCTGCACGCCCTCGTGCTGC	0.682																																						ENST00000400374.3																			1	Substitution - Missense(1)	p.P87L(1)	prostate(1)	NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						c.(259-261)cCc>cTc		keratin associated protein 10-4							12.0	19.0	17.0					21																	45993895		1997	4090	6087	SO:0001583	missense	386672					keratin filament		g.chr21:45993895C>T	AB076351	CCDS42957.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000215454	ENSG00000215454		"""Keratin associated proteins"""	20521	protein-coding gene	gene with protein product			"""keratin associated protein 18-4"""	KRTAP18-4			Standard	NM_198687		Approved	KRTAP18.4, KAP10.4	uc002zfk.1	P60372	OTTHUMG00000057641	ENST00000400374.3:c.260C>T	21.37:g.45993895C>T	ENSP00000383225:p.Pro87Leu					TSPEAR_ENST00000323084.4_Intron	p.P87L	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN			1	290	+			87			36 X 5 AA repeats of C-C-X(3).		Q08AS0	Missense_Mutation	SNP	ENST00000400374.3	37	c.260C>T	CCDS42957.1	.	.	.	.	.	.	.	.	.	.	N	11.14	1.551204	0.27739	.	.	ENSG00000215454	ENST00000400374;ENST00000334871	T	0.01025	5.43	3.55	3.55	0.40652	.	.	.	.	.	T	0.01940	0.0061	M	0.82517	2.595	0.09310	N	1	B	0.26081	0.141	B	0.23018	0.043	T	0.27806	-1.0063	9	0.87932	D	0	.	7.2328	0.26053	0.0:0.8692:0.0:0.1308	.	87	P60372	KR104_HUMAN	L	87;76	ENSP00000383225:P87L	ENSP00000333987:P76L	P	+	2	0	KRTAP10-4	44818323	0.231000	0.23751	0.033000	0.17914	0.719000	0.41307	2.079000	0.41577	1.689000	0.51079	0.479000	0.44913	CCC		0.682	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128045.1	NM_198687		16	85	0	0	0	0.007413	0	16	85				
JAK1	3716	broad.mit.edu	37	1	65300335	65300335	+	Nonsense_Mutation	SNP	A	A	C			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr1:65300335A>C	ENST00000342505.4	-	25	3623	c.3375T>G	c.(3373-3375)taT>taG	p.Y1125*		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	1125	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.Y1125*(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TCATAAGTTGATAAACCTGTA	0.303			Mis		ALL																																	ENST00000342505.4				Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		1	Substitution - Nonsense(1)	p.Y1125*(1)	prostate(1)	breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(3373-3375)taT>taG		Janus kinase 1							76.0	71.0	72.0					1																	65300335		1798	4066	5864	SO:0001587	stop_gained	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65300335A>C	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.3375T>G	1.37:g.65300335A>C	ENSP00000343204:p.Tyr1125*						p.Y1125*	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	25	3623	-			1125			Protein kinase 2.		Q59GQ2|Q9UD26	Nonsense_Mutation	SNP	ENST00000342505.4	37	c.3375T>G	CCDS41346.1	.	.	.	.	.	.	.	.	.	.	A	42	9.300036	0.99130	.	.	ENSG00000162434	ENST00000342505	.	.	.	5.01	3.87	0.44632	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.8321	7.7928	0.29129	0.7902:0.0:0.2098:0.0	.	.	.	.	X	1125	.	ENSP00000343204:Y1125X	Y	-	3	2	JAK1	65072923	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	0.955000	0.29188	2.101000	0.63845	0.528000	0.53228	TAT		0.303	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		3	66	0	0	0	0.004672	0	3	66				
FCAMR	83953	broad.mit.edu	37	1	207133044	207133044	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr1:207133044T>C	ENST00000324852.4	-	7	2027	c.1553A>G	c.(1552-1554)aAg>aGg	p.K518R	FCAMR_ENST00000450945.2_Missense_Mutation_p.S251G|FCAMR_ENST00000486178.1_5'UTR|FCAMR_ENST00000400962.3_Missense_Mutation_p.S251G	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	473					immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S251G(1)		endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						TCTCCAGAGCTTCCTTTGCAA	0.527																																					Ovarian(199;1883 2142 16966 44409 45154)	ENST00000324852.4																			1	Substitution - Missense(1)	p.S251G(1)	prostate(1)	endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						c.(1552-1554)aAg>aGg		Fc receptor, IgA, IgM, high affinity							139.0	133.0	135.0					1																	207133044		1568	3582	5150	SO:0001583	missense	83953					integral to membrane|plasma membrane	receptor activity	g.chr1:207133044T>C	AF354295	CCDS41460.1, CCDS53468.1	1q32.1	2013-01-14			ENSG00000162897	ENSG00000162897		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	24692	protein-coding gene	gene with protein product		605484				11779189	Standard	NM_001122979		Approved	FKSG87, FCA/MR, CD351	uc001hfa.4	Q8WWV6	OTTHUMG00000036579	ENST00000324852.4:c.1553A>G	1.37:g.207133044T>C	ENSP00000316491:p.Lys518Arg					FCAMR_ENST00000400962.3_Missense_Mutation_p.S251G|FCAMR_ENST00000450945.2_Missense_Mutation_p.S251G|FCAMR_ENST00000486178.1_5'UTR	p.K518R	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN			7	2027	-			473					Q32M82|Q8WWV5|Q96SA2	Missense_Mutation	SNP	ENST00000324852.4	37	c.1553A>G	CCDS53468.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.99|10.99	1.506918|1.506918	0.26949|0.26949	.|.	.|.	ENSG00000162897|ENSG00000162897	ENST00000324852|ENST00000400962;ENST00000450945	T|T;T	0.05855|0.08458	3.38|3.09;3.09	4.73|4.73	0.973|0.973	0.19710|0.19710	.|.	.|.	.|.	.|.	.|.	T|T	0.04452|0.04452	0.0122|0.0122	.|.	.|.	.|.	0.19945|0.19945	N|N	0.999947|0.999947	B;B|B	0.09022|0.17667	0.002;0.002|0.023	B;B|B	0.08055|0.19391	0.002;0.003|0.025	T|T	0.46541|0.46541	-0.9184|-0.9184	8|8	0.35671|0.21014	T|T	0.21|0.42	7.4614|7.4614	3.7496|3.7496	0.08561|0.08561	0.0:0.2078:0.1896:0.6026|0.0:0.2078:0.1896:0.6026	.|.	493;473|206	D2KTA8;Q8WWV6|Q8WWV6-2	.;FCAMR_HUMAN|.	R|G	518|251	ENSP00000316491:K518R|ENSP00000383746:S251G;ENSP00000392707:S251G	ENSP00000316491:K518R|ENSP00000383746:S251G	K|S	-|-	2|1	0|0	FCAMR|FCAMR	205199667|205199667	0.005000|0.005000	0.15991|0.15991	0.166000|0.166000	0.22797|0.22797	0.832000|0.832000	0.47134|0.47134	0.103000|0.103000	0.15292|0.15292	0.064000|0.064000	0.16427|0.16427	0.533000|0.533000	0.62120|0.62120	AAG|AGC		0.527	FCAMR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088969.2	NM_032029		37	151	0	0	0	0.005524	0	37	151				
JMJD4	65094	broad.mit.edu	37	1	227920349	227920349	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr1:227920349T>G	ENST00000366758.3	-	6	1135	c.1136A>C	c.(1135-1137)aAc>aCc	p.N379T	SNAP47_ENST00000366760.1_Intron|SNAP47_ENST00000480897.1_3'UTR|SNAP47_ENST00000366759.4_5'Flank|JMJD4_ENST00000438896.2_Missense_Mutation_p.N363T|JMJD4_ENST00000485807.1_5'UTR|SNAP47_ENST00000315781.5_5'Flank	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4	379								p.N379T(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				CTCTTCAAAGTTGATGCCCGA	0.572																																						ENST00000366758.3																			2	Substitution - Missense(2)	p.N379T(2)	prostate(2)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9						c.(1135-1137)aAc>aCc		jumonji domain containing 4							68.0	62.0	64.0					1																	227920349		2203	4300	6503	SO:0001583	missense	65094							g.chr1:227920349T>G	AK022579	CCDS1561.1, CCDS59203.1	1q42.13	2008-02-05			ENSG00000081692	ENSG00000081692			25724	protein-coding gene	gene with protein product						12477932	Standard	NM_023007		Approved	FLJ12517	uc001hrb.3	Q9H9V9	OTTHUMG00000037698	ENST00000366758.3:c.1136A>C	1.37:g.227920349T>G	ENSP00000355720:p.Asn379Thr					JMJD4_ENST00000438896.2_Missense_Mutation_p.N363T|JMJD4_ENST00000485807.1_5'UTR|SNAP47_ENST00000366760.1_Intron|SNAP47_ENST00000480897.1_3'UTR	p.N379T	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN			6	1135	-		Prostate(94;0.0885)	379					Q5TBZ1|Q5TBZ6|Q9H970	Missense_Mutation	SNP	ENST00000366758.3	37	c.1136A>C	CCDS1561.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.5|23.5	4.425935|4.425935	0.83667|0.83667	.|.	.|.	ENSG00000081692|ENSG00000081692	ENST00000366758|ENST00000438896	T|.	0.25579|.	1.79|.	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	0.098369|.	0.64402|.	D|.	0.000003|.	T|T	0.71728|0.71728	0.3374|0.3374	M|M	0.72118|0.72118	2.19|2.19	0.41621|0.41621	D|D	0.98896|0.98896	D;D|.	0.71674|.	0.997;0.998|.	D;D|.	0.69479|.	0.962;0.964|.	T|T	0.72981|0.72981	-0.4126|-0.4126	10|5	0.33141|.	T|.	0.24|.	-30.4609|-30.4609	12.7331|12.7331	0.57208|0.57208	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	363;379|.	Q9H9V9-2;Q9H9V9|.	.;JMJD4_HUMAN|.	T|P	379|356	ENSP00000355720:N379T|.	ENSP00000355720:N379T|.	N|T	-|-	2|1	0|0	JMJD4|JMJD4	225986972|225986972	1.000000|1.000000	0.71417|0.71417	0.944000|0.944000	0.38274|0.38274	0.987000|0.987000	0.75469|0.75469	6.698000|6.698000	0.74608|0.74608	2.106000|2.106000	0.64143|0.64143	0.533000|0.533000	0.62120|0.62120	AAC|ACT		0.572	JMJD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091970.1	NM_023007		8	36	0	0	0	0.003080	0	8	36				
KLF4	9314	broad.mit.edu	37	9	110249346	110249346	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr9:110249346C>G	ENST00000374672.4	-	4	1700	c.1227G>C	c.(1225-1227)aaG>aaC	p.K409N		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	443	Pro-rich.				cellular response to cycloheximide (GO:0071409)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to peptide (GO:1901653)|epidermal cell differentiation (GO:0009913)|epidermis morphogenesis (GO:0048730)|fat cell differentiation (GO:0045444)|mesodermal cell fate determination (GO:0007500)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000342)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of muscle hyperplasia (GO:0014740)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic camera-type eye development (GO:0031077)|post-embryonic hemopoiesis (GO:0035166)|regulation of cell differentiation (GO:0045595)|response to retinoic acid (GO:0032526)|stem cell maintenance (GO:0019827)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001010)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.K409N(1)|p.K400N(1)		breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						GATGGGAACTCTTTGTGTAGG	0.592																																						ENST00000374672.4																			2	Substitution - Missense(2)	p.K409N(1)|p.K400N(1)	prostate(2)	breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						c.(1225-1227)aaG>aaC		Kruppel-like factor 4 (gut)							294.0	262.0	273.0					9																	110249346		2203	4300	6503	SO:0001583	missense	9314				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr9:110249346C>G	AF022184	CCDS6770.2	9q31	2013-01-08			ENSG00000136826	ENSG00000136826		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6348	protein-coding gene	gene with protein product		602253				9422764, 16372018	Standard	NM_004235		Approved	EZF, GKLF	uc004bdg.3	O43474	OTTHUMG00000020449	ENST00000374672.4:c.1227G>C	9.37:g.110249346C>G	ENSP00000363804:p.Lys409Asn						p.K409N	NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN			4	1700	-			443			Pro-rich.		B2R8S4|B3KT79|L0R3I6|L0R4N5|P78338|Q5T3J8|Q5T3J9|Q8N717|Q9UNP3	Missense_Mutation	SNP	ENST00000374672.4	37	c.1227G>C	CCDS6770.2	.	.	.	.	.	.	.	.	.	.	C	24.1	4.492767	0.84962	.	.	ENSG00000136826	ENST00000374672	T	0.36157	1.27	5.57	4.67	0.58626	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.554792	0.15210	N	0.274523	T	0.65026	0.2652	M	0.89601	3.045	0.80722	D	1	P;D	0.59767	0.89;0.986	B;D	0.63283	0.419;0.913	T	0.71414	-0.4600	10	0.87932	D	0	.	13.8488	0.63483	0.0:0.9259:0.0:0.0741	.	443;409	O43474;O43474-1	KLF4_HUMAN;.	N	409	ENSP00000363804:K409N	ENSP00000363804:K409N	K	-	3	2	KLF4	109289167	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.675000	0.46875	1.353000	0.45828	0.655000	0.94253	AAG		0.592	KLF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053556.2	NM_004235		12	192	0	0	0	0.001855	0	12	192				
BMS1P20	96610	broad.mit.edu	37	22	22663087	22663087	+	RNA	SNP	A	A	G	rs1054158|rs71318762	byFrequency	TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr22:22663087A>G	ENST00000426066.1	+	0	526					NR_027293.1				BMS1 pseudogene 20																		GCTGCCACATAAGTTGTCCTT	0.303													.|||	3161	0.63119	0.9652	0.4726	5008	,	,		8984	0.4077		0.5219	False		,,,				2504	0.635					ENST00000426066.1																			0																																																			0							g.chr22:22663087A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22663087A>G								NR_027293.1						0	526	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.303	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			5	50	0	0	0	0.000602	0	5	50				
ABCB1	5243	broad.mit.edu	37	7	87179322	87179322	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr7:87179322G>A	ENST00000265724.3	-	14	1816	c.1399C>T	c.(1399-1401)Cgg>Tgg	p.R467W	ABCB1_ENST00000543898.1_Missense_Mutation_p.R403W	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	467	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.R467W(4)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	ATGATTTCCCGTAGAAACCTT	0.408																																						ENST00000265724.3																			4	Substitution - Missense(4)	p.R467W(4)	prostate(2)|endometrium(1)|central_nervous_system(1)	NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111						c.(1399-1401)Cgg>Tgg		ATP-binding cassette, sub-family B (MDR/TAP), member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						145.0	132.0	136.0					7																	87179322		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87179322G>A	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.1399C>T	7.37:g.87179322G>A	ENSP00000265724:p.Arg467Trp					ABCB1_ENST00000543898.1_Missense_Mutation_p.R403W	p.R467W	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN			14	1816	-	Esophageal squamous(14;0.00164)		467			ABC transporter 1.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.1399C>T	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659490	0.67586	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.94966	-3.57;-3.57	6.16	4.18	0.49190	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.97284	0.9112	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98278	1.0507	10	0.87932	D	0	-21.7962	17.0622	0.86550	0.0:0.0:0.6977:0.3023	.	403;467	B5AK60;P08183	.;MDR1_HUMAN	W	248;467;403	ENSP00000265724:R467W;ENSP00000444095:R403W	ENSP00000265724:R467W	R	-	1	2	ABCB1	87017258	0.859000	0.29813	1.000000	0.80357	0.955000	0.61496	0.322000	0.19576	1.596000	0.50062	0.650000	0.86243	CGG		0.408	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		9	121	0	0	0	0.004482	0	9	121				
CLDN12	9069	broad.mit.edu	37	7	90042673	90042673	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr7:90042673C>T	ENST00000287916.4	+	3	970	c.683C>T	c.(682-684)tCt>tTt	p.S228F	CLDN12_ENST00000535571.1_Missense_Mutation_p.S228F|CTB-13L3.1_ENST00000480135.1_RNA|CLDN12_ENST00000394605.2_Missense_Mutation_p.S228F	NM_001185073.2|NM_012129.4	NP_001172002.1|NP_036261.1	P56749	CLD12_HUMAN	claudin 12	228					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.S228F(1)		breast(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)	15						TCAGCACGCTCTCGCCTCTCT	0.423																																						ENST00000535571.1																			1	Substitution - Missense(1)	p.S228F(1)	prostate(1)	breast(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)	15						c.(682-684)tCt>tTt		claudin 12							151.0	143.0	146.0					7																	90042673		2203	4300	6503	SO:0001583	missense	9069				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr7:90042673C>T	AJ250713	CCDS5618.1	7q21	2008-07-18			ENSG00000157224	ENSG00000157224		"""Claudins"""	2034	protein-coding gene	gene with protein product		611232					Standard	NM_001185072		Approved		uc003ukr.3	P56749	OTTHUMG00000156612	ENST00000287916.4:c.683C>T	7.37:g.90042673C>T	ENSP00000287916:p.Ser228Phe					CLDN12_ENST00000394605.2_Missense_Mutation_p.S228F|CLDN12_ENST00000287916.4_Missense_Mutation_p.S228F	p.S228F	NM_001185072.2	NP_001172001.1	P56749	CLD12_HUMAN			2	992	+			228					D6W5Q4|Q7LDZ0	Missense_Mutation	SNP	ENST00000287916.4	37	c.683C>T	CCDS5618.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803758	0.70682	.	.	ENSG00000157224	ENST00000496677;ENST00000287916;ENST00000535571;ENST00000394605	T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.80675	0.4668	N	0.19112	0.55	0.50813	D	0.999892	D	0.53745	0.962	P	0.54664	0.758	T	0.82908	-0.0224	10	0.72032	D	0.01	-19.2323	19.6941	0.96016	0.0:1.0:0.0:0.0	.	228	P56749	CLD12_HUMAN	F	228	ENSP00000419053:S228F;ENSP00000287916:S228F;ENSP00000443476:S228F;ENSP00000378103:S228F	ENSP00000287916:S228F	S	+	2	0	CLDN12	89880609	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.946000	0.75953	2.885000	0.99019	0.655000	0.94253	TCT		0.423	CLDN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059221.1	NM_012129		40	145	0	0	0	0.006999	0	40	145				
CCDC144A	9720	broad.mit.edu	37	17	16594036	16594036	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr17:16594036G>T	ENST00000360524.8	+	1	398	c.322G>T	c.(322-324)Gac>Tac	p.D108Y	CCDC144A_ENST00000340621.5_Missense_Mutation_p.D108Y|RNU6-405P_ENST00000516637.1_RNA|CCDC144A_ENST00000399273.1_Missense_Mutation_p.D108Y|CCDC144A_ENST00000443444.2_Missense_Mutation_p.D108Y|CCDC144A_ENST00000456009.1_Missense_Mutation_p.D108Y|CCDC144A_ENST00000436374.1_3'UTR|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.D108Y	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	108								p.D108Y(1)									CACTGGCGTGGACAAGAGGGA	0.657																																						ENST00000443444.2																			1	Substitution - Missense(1)	p.D108Y(1)	prostate(1)								c.(322-324)Gac>Tac		coiled-coil domain containing 144A							119.0	127.0	124.0					17																	16594036		2203	4300	6503	SO:0001583	missense	9720							g.chr17:16594036G>T	BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.322G>T	17.37:g.16594036G>T	ENSP00000353717:p.Asp108Tyr					RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.D108Y|CCDC144A_ENST00000456009.1_Missense_Mutation_p.D108Y|CCDC144A_ENST00000340621.5_Missense_Mutation_p.D108Y|CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000399273.1_Missense_Mutation_p.D108Y|CCDC144A_ENST00000360524.8_Missense_Mutation_p.D108Y	p.D108Y			A2RUR9	C144A_HUMAN			1	462	+			108					O60311|Q6ZU57	Missense_Mutation	SNP	ENST00000360524.8	37	c.322G>T	CCDS45621.1	.	.	.	.	.	.	.	.	.	.	.	9.663	1.144541	0.21288	.	.	ENSG00000170160	ENST00000420937;ENST00000340621;ENST00000399273;ENST00000436374;ENST00000399264;ENST00000443444;ENST00000448331;ENST00000360524;ENST00000456009;ENST00000360495	T;T;T;T;T;T;T	0.19532	2.14;2.14;2.14;2.14;2.14;2.14;2.14	0.542	-1.08	0.09936	.	.	.	.	.	T	0.07143	0.0181	N	0.08118	0	0.09310	N	1	P	0.41214	0.742	B	0.29440	0.102	T	0.22208	-1.0223	8	0.87932	D	0	.	.	.	.	.	108	A2RUR9	C144A_HUMAN	Y	108	ENSP00000344740:D108Y;ENSP00000382215:D108Y;ENSP00000439262:D108Y;ENSP00000440655:D108Y;ENSP00000353717:D108Y;ENSP00000394201:D108Y;ENSP00000353685:D108Y	ENSP00000344740:D108Y	D	+	1	0	CCDC144A	16534761	0.825000	0.29262	0.005000	0.12908	0.002000	0.02628	-0.990000	0.03732	-0.396000	0.07703	-0.745000	0.03516	GAC		0.657	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1			27	245	1	0	1.77063e-15	0.005443	3.17128e-15	27	245				
EXOC2	55770	broad.mit.edu	37	6	497413	497413	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr6:497413C>T	ENST00000230449.4	-	25	2648	c.2513G>A	c.(2512-2514)cGa>cAa	p.R838Q	EXOC2_ENST00000448181.3_Missense_Mutation_p.R433Q	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	838					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.R838Q(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		CTGCATCAGTCGACTGAGCTC	0.388																																						ENST00000230449.4																			1	Substitution - Missense(1)	p.R838Q(1)	prostate(1)	breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46						c.(2512-2514)cGa>cAa		exocyst complex component 2							127.0	124.0	125.0					6																	497413		2203	4300	6503	SO:0001583	missense	55770				exocytosis|protein transport			g.chr6:497413C>T	AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.2513G>A	6.37:g.497413C>T	ENSP00000230449:p.Arg838Gln					EXOC2_ENST00000448181.3_Missense_Mutation_p.R433Q	p.R838Q	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)	25	2648	-	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)	838					B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Missense_Mutation	SNP	ENST00000230449.4	37	c.2513G>A	CCDS34327.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.033394	0.75504	.	.	ENSG00000112685	ENST00000230449;ENST00000448181	T;T	0.40476	1.03;1.03	6.06	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.57666	0.2069	M	0.78049	2.395	0.47819	D	0.999522	D	0.89917	1.0	D	0.83275	0.996	T	0.61520	-0.7046	10	0.41790	T	0.15	-16.2415	16.655	0.85226	0.1308:0.8692:0.0:0.0	.	838	Q96KP1	EXOC2_HUMAN	Q	838;433	ENSP00000230449:R838Q;ENSP00000398113:R433Q	ENSP00000230449:R838Q	R	-	2	0	EXOC2	442413	1.000000	0.71417	0.009000	0.14445	0.379000	0.30106	7.487000	0.81328	1.530000	0.49136	0.650000	0.86243	CGA		0.388	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	NM_018303		22	90	0	0	0	0.002780	0	22	90				
AHCTF1	25909	broad.mit.edu	37	1	247014376	247014376	+	Silent	SNP	G	G	C			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr1:247014376G>C	ENST00000391829.2	-	33	5055	c.4932C>G	c.(4930-4932)gcC>gcG	p.A1644A	AHCTF1_ENST00000326225.3_Silent_p.A1653A|AHCTF1_ENST00000366508.1_Silent_p.A1679A|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1644	Disordered. {ECO:0000250}.|Mediates transcriptional activity. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A1644A(1)|p.A1653A(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CACTAGTTACGGCAGATGGCA	0.363																																					Colon(145;197 1800 4745 15099 26333)	ENST00000366508.1																			2	Substitution - coding silent(2)	p.A1644A(1)|p.A1653A(1)	prostate(2)	NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74						c.(5035-5037)gcC>gcG		AT hook containing transcription factor 1							116.0	114.0	115.0					1																	247014376		2203	4300	6503	SO:0001819	synonymous_variant	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247014376G>C		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.4932C>G	1.37:g.247014376G>C						AHCTF1_ENST00000391829.2_Silent_p.A1644A|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Silent_p.A1653A	p.A1679A			Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		33	5173	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	1644			Mediates transcriptional activity (By similarity).|Necessary for nuclear localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Silent	SNP	ENST00000391829.2	37	c.5037C>G																																																																																					0.363	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		7	164	0	0	0	0.001984	0	7	164				
FLII	2314	broad.mit.edu	37	17	18151872	18151872	+	Missense_Mutation	SNP	G	G	C	rs542815509		TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr17:18151872G>C	ENST00000327031.4	-	18	2407	c.2182C>G	c.(2182-2184)Ctg>Gtg	p.L728V	FLII_ENST00000379450.4_Missense_Mutation_p.L642V|FLII_ENST00000545457.2_Missense_Mutation_p.L673V|FLII_ENST00000578558.1_Intron|FLII_ENST00000579294.1_Missense_Mutation_p.L717V	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	728	Interaction with ACTL6A.				multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)	p.L728V(1)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					ACCTTGTACAGCTTGGGCTGC	0.622											OREG0024225	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000327031.4																			1	Substitution - Missense(1)	p.L728V(1)	prostate(1)	central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(2182-2184)Ctg>Gtg		flightless I homolog (Drosophila)							44.0	47.0	46.0					17																	18151872		2203	4300	6503	SO:0001583	missense	2314				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding	g.chr17:18151872G>C	U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"""flightless I (Drosophila) homolog"""			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.2182C>G	17.37:g.18151872G>C	ENSP00000324573:p.Leu728Val		OREG0024225	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	723	FLII_ENST00000579294.1_Missense_Mutation_p.L717V|FLII_ENST00000545457.2_Missense_Mutation_p.L673V|FLII_ENST00000379450.4_Missense_Mutation_p.L642V|FLII_ENST00000578558.1_Intron	p.L728V	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN			18	2407	-	all_neural(463;0.228)		728			Interaction with ACTL6A.		B4DIL0|F5H407|J3QLG3	Missense_Mutation	SNP	ENST00000327031.4	37	c.2182C>G	CCDS11192.1	.	.	.	.	.	.	.	.	.	.	G	31	5.072199	0.93950	.	.	ENSG00000177731	ENST00000327031;ENST00000379450	T;T	0.21543	2.0;2.0	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.46983	0.1421	M	0.62088	1.915	0.80722	D	1	D;D;D;D	0.76494	0.997;0.997;0.999;0.997	D;D;D;D	0.78314	0.991;0.991;0.986;0.978	T	0.40905	-0.9538	10	0.87932	D	0	-12.729	19.4761	0.94989	0.0:0.0:1.0:0.0	.	642;642;728;697	E7EPM0;B4DIL0;Q13045;B4DIX0	.;.;FLII_HUMAN;.	V	728;642	ENSP00000324573:L728V;ENSP00000368763:L642V	ENSP00000324573:L728V	L	-	1	2	FLII	18092597	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.373000	0.97168	2.618000	0.88619	0.462000	0.41574	CTG		0.622	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	NM_002018		7	61	0	0	0	0.001984	0	7	61				
KRT24	192666	broad.mit.edu	37	17	38855747	38855747	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr17:38855747C>A	ENST00000264651.2	-	6	1366	c.1310G>T	c.(1309-1311)cGc>cTc	p.R437L		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	437	Coil 2.|Rod.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	structural molecule activity (GO:0005198)	p.R437L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CACCTCCAGGCGTGTCTTGAT	0.502																																					GBM(61;380 1051 14702 23642 31441)	ENST00000264651.2																			1	Substitution - Missense(1)	p.R437L(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1309-1311)cGc>cTc		keratin 24							167.0	164.0	165.0					17																	38855747		2203	4300	6503	SO:0001583	missense	192666					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38855747C>A		CCDS11372.1	17q21.2	2013-06-25			ENSG00000167916	ENSG00000167916		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	18527	protein-coding gene	gene with protein product		607742				16831889	Standard	NM_019016		Approved	FLJ20261, MGC138169, MGC138173	uc002hvd.3	Q2M2I5	OTTHUMG00000133372	ENST00000264651.2:c.1310G>T	17.37:g.38855747C>A	ENSP00000264651:p.Arg437Leu						p.R437L	NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN			6	1366	-		Breast(137;0.00526)	437			Coil 2.|Rod.		Q9NXG7	Missense_Mutation	SNP	ENST00000264651.2	37	c.1310G>T	CCDS11372.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.077097	0.76415	.	.	ENSG00000167916	ENST00000264651	D	0.89681	-2.55	5.62	3.61	0.41365	Filament (1);	.	.	.	.	D	0.93719	0.7993	M	0.93594	3.435	0.41011	D	0.985007	P	0.52577	0.954	P	0.52066	0.689	D	0.94242	0.7486	9	0.87932	D	0	.	12.7624	0.57372	0.0:0.8653:0.0:0.1347	.	437	Q2M2I5	K1C24_HUMAN	L	437	ENSP00000264651:R437L	ENSP00000264651:R437L	R	-	2	0	KRT24	36109273	0.766000	0.28496	0.696000	0.30242	0.921000	0.55340	2.238000	0.43070	0.719000	0.32188	-0.194000	0.12790	CGC		0.502	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257217.1	NM_019016		30	158	1	0	4.74835e-14	0.002096	8.37945e-14	30	158				
CHEK2P2	646096	broad.mit.edu	37	15	20496770	20496770	+	RNA	SNP	T	T	C	rs3865047		TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr15:20496770T>C	ENST00000555186.1	+	0	823					NR_038836.1				checkpoint kinase 2 pseudogene 2																		TTATAGTGTGTATTTTAATTA	0.353																																						ENST00000555186.1																			0																																																			0							g.chr15:20496770T>C			15q11.1	2011-11-11			ENSG00000259156	ENSG00000259156			43578	pseudogene	pseudogene							Standard	NR_038836		Approved		uc001ytf.1		OTTHUMG00000171660		15.37:g.20496770T>C								NR_038836.1						0	823	+									RNA	SNP	ENST00000555186.1	37																																																																																						0.353	CHEK2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000414654.1	NR_038836		7	30	0	0	0	0.001984	0	7	30				
LRRC27	80313	broad.mit.edu	37	10	134145147	134145147	+	5'Flank	SNP	G	G	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr10:134145147G>A	ENST00000368614.3	+	0	0				LRRC27_ENST00000356571.4_5'Flank|LRRC27_ENST00000368615.3_5'Flank|LRRC27_ENST00000344079.5_5'Flank|LRRC27_ENST00000368613.4_5'Flank|STK32C_ENST00000368625.4_Missense_Mutation_p.L32F|LRRC27_ENST00000392638.2_5'Flank	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27									p.L32F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		CCGCTCCAAAGGTGGTGCCTC	0.682																																						ENST00000368625.4																			1	Substitution - Missense(1)	p.L32F(1)	prostate(1)	breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23						c.(94-96)Ctt>Ttt		serine/threonine kinase 32C							51.0	57.0	55.0					10																	134145147		876	1991	2867	SO:0001631	upstream_gene_variant	282974						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr10:134145147G>A	AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814			29346	protein-coding gene	gene with protein product						11214970	Standard	NM_030626		Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284		10.37:g.134145147G>A	Exception_encountered						p.L32F			Q86UX6	ST32C_HUMAN		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)	1	179	-		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)	0					A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	Missense_Mutation	SNP	ENST00000368614.3	37	c.94C>T	CCDS31316.1	.	.	.	.	.	.	.	.	.	.	G	4.161	0.028295	0.08054	.	.	ENSG00000165752	ENST00000368625;ENST00000368620	T	0.67171	-0.25	0.158	0.158	0.14942	.	.	.	.	.	T	0.65439	0.2691	.	.	.	0.09310	N	1	P	0.44006	0.824	P	0.48704	0.587	T	0.57130	-0.7864	7	0.87932	D	0	.	.	.	.	.	32	B7Z7J1	.	F	32;69	ENSP00000357614:L32F	ENSP00000357609:L69F	L	-	1	0	STK32C	133995137	0.015000	0.18098	0.028000	0.17463	0.028000	0.11728	0.228000	0.17814	0.202000	0.20498	0.205000	0.17691	CTT		0.682	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051058.2	XM_290462		21	41	0	0	0	0.002299	0	21	41				
AOC1	26	broad.mit.edu	37	7	150554114	150554114	+	Missense_Mutation	SNP	G	G	A	rs201603660		TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr7:150554114G>A	ENST00000493429.1	+	4	1140	c.556G>A	c.(556-558)Gat>Aat	p.D186N	AOC1_ENST00000416793.2_Missense_Mutation_p.D186N|AOC1_ENST00000360937.4_Missense_Mutation_p.D186N|AOC1_ENST00000467291.1_Missense_Mutation_p.D186N			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	186					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)	p.D186N(1)								Amiloride(DB00594)	GGCCTTCACCGATGTGGCCCC	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		19622	0.0		0.001	False		,,,				2504	0.0					ENST00000493429.1																			1	Substitution - Missense(1)	p.D186N(1)	prostate(1)								c.(556-558)Gat>Aat		amine oxidase, copper containing 1		G	ASN/ASP	0,3942		0,0,1971	65.0	67.0	67.0		556	5.6	0.3	7		67	2,8298		0,2,4148	yes	missense	ABP1	NM_001091.2	23	0,2,6119	AA,AG,GG		0.0241,0.0,0.0163	possibly-damaging	186/752	150554114	2,12240	1971	4150	6121	SO:0001583	missense	26							g.chr7:150554114G>A	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"""diamine oxidase"""	104610	"""amiloride binding protein 1 (amine oxidase (copper-containing))"""	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.556G>A	7.37:g.150554114G>A	ENSP00000418614:p.Asp186Asn					AOC1_ENST00000416793.2_Missense_Mutation_p.D186N|AOC1_ENST00000360937.4_Missense_Mutation_p.D186N|AOC1_ENST00000467291.1_Missense_Mutation_p.D186N	p.D186N							4	1140	+								C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	ENST00000493429.1	37	c.556G>A	CCDS43679.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	16.05	3.013134	0.54468	0.0	2.41E-4	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000460213;ENST00000360937;ENST00000416793;ENST00000437714;ENST00000483043	T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57	5.55	5.55	0.83447	Copper amine oxidase, N3-terminal (1);Copper amine oxidase, N2/N3-terminal (1);Copper amine oxidase, N-terminal (1);	0.098299	0.64402	D	0.000002	T	0.33265	0.0857	L	0.58969	1.84	0.80722	D	1	P;P	0.49635	0.894;0.926	B;B	0.43990	0.438;0.411	T	0.08597	-1.0714	10	0.10902	T	0.67	-32.0439	16.9905	0.86352	0.0:0.0:1.0:0.0	.	186;186	C9J690;P19801	.;ABP1_HUMAN	N	186;186;186;186;186;62;186	ENSP00000418614:D186N;ENSP00000418328:D186N;ENSP00000418557:D186N;ENSP00000354193:D186N;ENSP00000411613:D186N;ENSP00000417392:D186N	ENSP00000354193:D186N	D	+	1	0	ABP1	150185047	0.950000	0.32346	0.302000	0.25058	0.021000	0.10359	2.724000	0.47285	2.610000	0.88304	0.655000	0.94253	GAT		0.587	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		9	78	0	0	0	0.004482	0	9	78				
MAP3K19	80122	broad.mit.edu	37	2	135743788	135743788	+	Missense_Mutation	SNP	C	C	A	rs140658941	byFrequency	TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr2:135743788C>A	ENST00000375845.3	-	7	2684	c.2654G>T	c.(2653-2655)cGa>cTa	p.R885L	MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.R902L|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000358371.4_Missense_Mutation_p.R772L	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	885							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R885Q(1)|p.R237L(1)|p.R885L(1)|p.R237Q(1)									AGTTAAAATTCGGCTGGCATT	0.378																																						ENST00000375845.3																			4	Substitution - Missense(4)	p.R885Q(1)|p.R237L(1)|p.R885L(1)|p.R237Q(1)	large_intestine(2)|prostate(2)								c.(2653-2655)cGa>cTa		mitogen-activated protein kinase kinase kinase 19							83.0	85.0	85.0					2																	135743788		2203	4300	6503	SO:0001583	missense	80122							g.chr2:135743788C>A	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.2654G>T	2.37:g.135743788C>A	ENSP00000365005:p.Arg885Leu					MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000358371.4_Missense_Mutation_p.R772L|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.R902L|MAP3K19_ENST00000392917.3_Intron	p.R885L	NM_025052.3	NP_079328.3					7	2684	-								B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.2654G>T	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	C	1.248	-0.619331	0.03663	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915;ENST00000437365	T;T;T;T	0.72615	-0.54;-0.53;1.81;-0.67	4.86	1.1	0.20463	.	0.480060	0.17580	N	0.169151	T	0.49626	0.1568	N	0.22421	0.69	0.09310	N	0.999997	B;B;B	0.31383	0.321;0.074;0.133	B;B;B	0.26094	0.066;0.029;0.018	T	0.35943	-0.9768	10	0.48119	T	0.1	.	6.1132	0.20112	0.0:0.0958:0.163:0.7412	.	772;902;885	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	L	885;772;902;275	ENSP00000365005:R885L;ENSP00000351140:R772L;ENSP00000376647:R902L;ENSP00000392827:R275L	ENSP00000351140:R772L	R	-	2	0	YSK4	135460258	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.267000	0.08619	0.034000	0.15491	-1.280000	0.01385	CGA		0.378	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		11	66	1	0	9.70103e-10	0.008291	1.66303e-09	11	66				
PSG3	5671	broad.mit.edu	37	19	43237124	43237124	+	Missense_Mutation	SNP	G	G	A	rs368279604		TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr19:43237124G>A	ENST00000327495.5	-	3	705	c.521C>T	c.(520-522)cCg>cTg	p.P174L	PSG3_ENST00000595140.1_Missense_Mutation_p.P174L|PSG3_ENST00000490592.1_5'Flank	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	174	Ig-like C2-type 1.				defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.P174L(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GCTTGCGTCCGGAGTCTCAGG	0.522													.|||	1	0.000199681	0.0	0.0	5008	,	,		19496	0.0		0.0	False		,,,				2504	0.001					ENST00000327495.5																			1	Substitution - Missense(1)	p.P174L(1)	prostate(1)	central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(520-522)cCg>cTg		pregnancy specific beta-1-glycoprotein 3		G	LEU/PRO	1,4405		0,1,2202	212.0	209.0	210.0		521	0.4	0.1	19		210	0,8600		0,0,4300	no	missense	PSG3	NM_021016.3	98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	174/429	43237124	1,13005	2203	4300	6503	SO:0001583	missense	5671				defense response|female pregnancy	extracellular region		g.chr19:43237124G>A		CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.521C>T	19.37:g.43237124G>A	ENSP00000332215:p.Pro174Leu					PSG3_ENST00000595140.1_Missense_Mutation_p.P174L	p.P174L	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN			3	705	-		Prostate(69;0.00682)	174			Ig-like C2-type 1.		Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	ENST00000327495.5	37	c.521C>T	CCDS12611.1	.	.	.	.	.	.	.	.	.	.	-	5.464	0.270624	0.10349	2.27E-4	0.0	ENSG00000221826	ENST00000327495	T	0.18960	2.18	1.59	0.425	0.16473	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.22282	0.0537	M	0.79343	2.45	0.09310	N	1	B;B	0.20780	0.048;0.015	B;B	0.18263	0.021;0.009	T	0.28138	-1.0053	9	0.46703	T	0.11	.	4.465	0.11685	0.0:0.0:0.3551:0.6449	.	152;174	Q08266;Q16557	.;PSG3_HUMAN	L	174	ENSP00000332215:P174L	ENSP00000332215:P174L	P	-	2	0	PSG3	47928964	0.000000	0.05858	0.056000	0.19401	0.010000	0.07245	-0.254000	0.08781	-0.075000	0.12798	-0.868000	0.02995	CCG		0.522	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016		12	277	0	0	0	0.001855	0	12	277				
TMEM132D	121256	broad.mit.edu	37	12	129563125	129563125	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr12:129563125A>G	ENST00000422113.2	-	8	2395	c.2069T>C	c.(2068-2070)aTc>aCc	p.I690T	TMEM132D_ENST00000389441.4_Missense_Mutation_p.I228T	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	690					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.I690T(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AGTGGCAAAGATGGCCCTGTT	0.577																																						ENST00000422113.2																			1	Substitution - Missense(1)	p.I690T(1)	prostate(1)	NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(2068-2070)aTc>aCc		transmembrane protein 132D							128.0	112.0	117.0					12																	129563125		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129563125A>G	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2069T>C	12.37:g.129563125A>G	ENSP00000408581:p.Ile690Thr					TMEM132D_ENST00000389441.4_Missense_Mutation_p.I228T	p.I690T	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	8	2395	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	690					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.2069T>C	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	A	17.35	3.367916	0.61513	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.20881	2.04;2.04	4.79	4.79	0.61399	.	0.211356	0.39274	N	0.001419	T	0.42653	0.1212	M	0.66560	2.04	0.49130	D	0.999759	D;D	0.63046	0.992;0.99	P;D	0.67382	0.813;0.951	T	0.28870	-1.0030	9	.	.	.	-24.5105	14.3335	0.66574	1.0:0.0:0.0:0.0	.	690;228	Q14C87;Q14C87-2	T132D_HUMAN;.	T	228;690	ENSP00000374092:I228T;ENSP00000408581:I690T	.	I	-	2	0	TMEM132D	128129078	1.000000	0.71417	0.931000	0.37212	0.388000	0.30384	7.238000	0.78173	1.774000	0.52232	0.460000	0.39030	ATC		0.577	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		5	109	0	0	0	0.001168	0	5	109				
BMS1P20	96610	broad.mit.edu	37	22	22663086	22663086	+	RNA	SNP	T	T	G	rs1054157|rs71318762	byFrequency	TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr22:22663086T>G	ENST00000426066.1	+	0	525					NR_027293.1				BMS1 pseudogene 20																		AGCTGCCACATAAGTTGTCCT	0.299													.|||	3161	0.63119	0.9652	0.4726	5008	,	,		9186	0.4077		0.5219	False		,,,				2504	0.635					ENST00000426066.1																			0																																																			0							g.chr22:22663086T>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22663086T>G								NR_027293.1						0	525	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.299	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			5	50	0	0	0	0.000602	0	5	50				
TTN	7273	broad.mit.edu	37	2	179537132	179537132	+	Splice_Site	SNP	A	A	G			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr2:179537132A>G	ENST00000591111.1	-	150	34033		c.e150+1		TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Splice_Site|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Splice_Site|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.?(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCAAAAATACCTTTAGCTG	0.328																																						ENST00000589042.1																			1	Unknown(1)	p.?(1)	prostate(1)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.e154+1		titin							155.0	158.0	157.0					2																	179537132		1823	4068	5891	SO:0001630	splice_region_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179537132A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.33808+1T>C	2.37:g.179537132A>G						TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Splice_Site|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Splice_Site|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA		NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		154	35155	-								A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Splice_Site	SNP	ENST00000591111.1	37			.	.	.	.	.	.	.	.	.	.	A	17.86	3.493204	0.64186	.	.	ENSG00000155657	ENST00000342992	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7672	0.78135	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TTN	179245377	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.357000	0.59436	2.183000	0.69458	0.528000	0.53228	.		0.328	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	Intron	10	264	0	0	0	0.006214	0	10	264				
DMRT2	10655	broad.mit.edu	37	9	1051731	1051731	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr9:1051731C>T	ENST00000358146.2	+	1	118	c.118C>T	c.(118-120)Ccg>Tcg	p.P40S	DMRT2_ENST00000382251.3_Missense_Mutation_p.P40S|DMRT2_ENST00000382255.3_Missense_Mutation_p.P40S|DMRT2_ENST00000302441.6_Missense_Mutation_p.P40S|DMRT2_ENST00000259622.6_Missense_Mutation_p.P40S|DMRT2_ENST00000412350.2_Missense_Mutation_p.P40S			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	40					embryonic skeletal system development (GO:0048706)|positive regulation of myotome development (GO:2000287)|regulation of somitogenesis (GO:0014807)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P40S(2)		large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		gcccagcccgccgccggcgga	0.746																																						ENST00000259622.6																			2	Substitution - Missense(2)	p.P40S(2)	prostate(2)	large_intestine(1)|lung(1)|prostate(2)	4						c.(118-120)Ccg>Tcg		doublesex and mab-3 related transcription factor 2							3.0	4.0	3.0					9																	1051731		1677	3304	4981	SO:0001583	missense	10655				male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:1051731C>T	AF130729	CCDS6444.1, CCDS6445.1	9p24.3	2008-07-21			ENSG00000173253	ENSG00000173253			2935	protein-coding gene	gene with protein product	"""terra-like protein"""	604935				10332030	Standard	NM_181872		Approved		uc003zha.3	Q9Y5R5	OTTHUMG00000019437	ENST00000358146.2:c.118C>T	9.37:g.1051731C>T	ENSP00000350865:p.Pro40Ser					DMRT2_ENST00000358146.2_Missense_Mutation_p.P40S|DMRT2_ENST00000302441.6_Missense_Mutation_p.P40S|DMRT2_ENST00000412350.2_Missense_Mutation_p.P40S|DMRT2_ENST00000382251.3_Missense_Mutation_p.P40S|DMRT2_ENST00000382255.3_Missense_Mutation_p.P40S	p.P40S			Q9Y5R5	DMRT2_HUMAN		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)	1	118	+		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)	40					B1ANC0|B9EGJ1|Q9NPG6|Q9NQR6	Missense_Mutation	SNP	ENST00000358146.2	37	c.118C>T	CCDS6444.1	.	.	.	.	.	.	.	.	.	.	C	6.568	0.473194	0.12461	.	.	ENSG00000173253	ENST00000382255;ENST00000382251;ENST00000412350;ENST00000302441;ENST00000358146;ENST00000259622	T;T;T;T;T;T	0.41758	0.99;2.06;0.99;2.06;2.06;0.99	4.53	2.13	0.27403	.	2.301840	0.01400	N	0.013567	T	0.27765	0.0683	N	0.12182	0.205	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.06405	0.002;0.001	T	0.16748	-1.0392	10	0.25751	T	0.34	-2.2002	7.3579	0.26729	0.0:0.5116:0.3559:0.1325	.	40;40	Q05C20;Q9Y5R5	.;DMRT2_HUMAN	S	40	ENSP00000371690:P40S;ENSP00000371686:P40S;ENSP00000397494:P40S;ENSP00000305785:P40S;ENSP00000350865:P40S;ENSP00000259622:P40S	ENSP00000259622:P40S	P	+	1	0	DMRT2	1041731	0.619000	0.27059	0.552000	0.28243	0.034000	0.12701	0.831000	0.27476	0.132000	0.18615	0.484000	0.47621	CCG		0.746	DMRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051492.1	NM_006557		3	7	0	0	0	0.004672	0	3	7				
ANKRD28	23243	broad.mit.edu	37	3	15727591	15727591	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr3:15727591G>C	ENST00000399451.2	-	20	2364	c.1997C>G	c.(1996-1998)aCa>aGa	p.T666R	ANKRD28_ENST00000383777.1_Missense_Mutation_p.T699R|ANKRD28_ENST00000497037.1_5'UTR	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	666						nucleus (GO:0005634)		p.T133R(1)|p.T699R(1)		breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						AACACAGTCTGTGTGCCCGTT	0.458																																						ENST00000399451.2																			2	Substitution - Missense(2)	p.T133R(1)|p.T699R(1)	prostate(2)	breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						c.(1996-1998)aCa>aGa		ankyrin repeat domain 28							114.0	102.0	106.0					3																	15727591		2010	4177	6187	SO:0001583	missense	23243					nucleoplasm	protein binding	g.chr3:15727591G>C	AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	29024	protein-coding gene	gene with protein product	"""phosphatase interactor targeting K protein"", ""protein phosphatase 6 ankyrin repeat subunit A"", ""protein phosphatase 1, regulatory subunit 65"""	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.1997C>G	3.37:g.15727591G>C	ENSP00000382379:p.Thr666Arg					ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Missense_Mutation_p.T699R	p.T666R	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN			20	2364	-			666					B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Missense_Mutation	SNP	ENST00000399451.2	37	c.1997C>G	CCDS46769.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.081089	0.76528	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	T;T;T	0.15834	2.39;2.41;2.39	5.54	5.54	0.83059	Ankyrin repeat-containing domain (4);	0.149179	0.64402	D	0.000012	T	0.14830	0.0358	N	0.19112	0.55	0.80722	D	1	B;B;B	0.28082	0.2;0.151;0.071	B;B;B	0.29176	0.06;0.05;0.099	T	0.07347	-1.0777	10	0.36615	T	0.2	.	19.4692	0.94956	0.0:0.0:1.0:0.0	.	699;696;666	O15084-1;O15084-4;O15084	.;.;ANR28_HUMAN	R	666;699;666	ENSP00000382379:T666R;ENSP00000373287:T699R;ENSP00000397341:T666R	ENSP00000373287:T699R	T	-	2	0	ANKRD28	15702595	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	9.813000	0.99286	2.596000	0.87737	0.591000	0.81541	ACA		0.458	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1	NM_015199		4	22	0	0	0	0.000248	0	4	22				
HSPBP1	23640	broad.mit.edu	37	19	55789207	55789207	+	Missense_Mutation	SNP	T	T	C	rs535068399		TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr19:55789207T>C	ENST00000255631.5	-	4	528	c.218A>G	c.(217-219)cAg>cGg	p.Q73R	HSPBP1_ENST00000587922.1_Missense_Mutation_p.Q73R|HSPBP1_ENST00000376343.3_Missense_Mutation_p.Q73R|HSPBP1_ENST00000433386.2_Missense_Mutation_p.Q73R	NM_001130106.1|NM_012267.4	NP_001123578.1|NP_036399.3	Q9NZL4	HPBP1_HUMAN	HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1	76					negative regulation of catalytic activity (GO:0043086)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457)		enzyme inhibitor activity (GO:0004857)	p.Q73R(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CTGCAGCCACTGACGCCTCTG	0.577													T|||	1	0.000199681	0.0008	0.0	5008	,	,		18536	0.0		0.0	False		,,,				2504	0.0					ENST00000255631.5																			1	Substitution - Missense(1)	p.Q73R(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8						c.(217-219)cAg>cGg		HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1							15.0	14.0	15.0					19																	55789207		2196	4285	6481	SO:0001583	missense	23640				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding		enzyme inhibitor activity|protein binding	g.chr19:55789207T>C		CCDS33111.1	19q13.42	2008-12-16			ENSG00000133265	ENSG00000133265			24989	protein-coding gene	gene with protein product	"""hsp70 interacting protein"", ""Hsp70 binding protein 1"""	612939				10786638, 9830037	Standard	NM_001130106		Approved	HspBP1, FES1	uc002qkd.3	Q9NZL4		ENST00000255631.5:c.218A>G	19.37:g.55789207T>C	ENSP00000255631:p.Gln73Arg					HSPBP1_ENST00000587922.1_Missense_Mutation_p.Q73R|HSPBP1_ENST00000433386.2_Missense_Mutation_p.Q73R|HSPBP1_ENST00000376343.3_Missense_Mutation_p.Q73R	p.Q73R	NM_001130106.1|NM_012267.4	NP_001123578.1|NP_036399.3	Q9NZL4	HPBP1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	4	528	-			76					B3KQP0|B4DG11|O95351|Q6ZNU5	Missense_Mutation	SNP	ENST00000255631.5	37	c.218A>G	CCDS33111.1	.	.	.	.	.	.	.	.	.	.	T	11.65	1.700636	0.30142	.	.	ENSG00000133265	ENST00000433386;ENST00000255631;ENST00000376343	T;T;T	0.38401	1.14;1.14;1.14	4.53	4.53	0.55603	.	0.444987	0.24016	N	0.042332	T	0.29491	0.0735	N	0.10874	0.06	0.32634	N	0.521551	D;P;P;D	0.57899	0.981;0.952;0.952;0.981	P;P;P;P	0.53593	0.73;0.647;0.647;0.73	T	0.19549	-1.0302	10	0.18276	T	0.48	-6.7671	13.2817	0.60219	0.0:0.0:0.0:1.0	.	73;76;76;119	C9JNI7;Q9NZL4-2;Q9NZL4;B4DG11	.;.;HPBP1_HUMAN;.	R	73	ENSP00000398244:Q73R;ENSP00000255631:Q73R;ENSP00000365521:Q73R	ENSP00000255631:Q73R	Q	-	2	0	HSPBP1	60481019	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	3.400000	0.52594	2.046000	0.60703	0.533000	0.62120	CAG		0.577	HSPBP1-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452670.1	NM_012267		7	21	0	0	0	0.003080	0	7	21				
ENOX1	55068	broad.mit.edu	37	13	43872565	43872565	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr13:43872565C>A	ENST00000261488.6	-	12	1940	c.1363G>T	c.(1363-1365)Gaa>Taa	p.E455*	ENOX1_ENST00000412891.1_Nonsense_Mutation_p.E455*	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	455					rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)	p.E455*(2)		breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		AAAAGCTGTTCTTTTTCTTGT	0.527																																						ENST00000261488.6																			2	Substitution - Nonsense(2)	p.E455*(2)	prostate(2)	breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34						c.(1363-1365)Gaa>Taa		ecto-NOX disulfide-thiol exchanger 1							180.0	152.0	162.0					13																	43872565		2203	4300	6503	SO:0001587	stop_gained	55068				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	g.chr13:43872565C>A	EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"""RNA binding motif (RRM) containing"""	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.1363G>T	13.37:g.43872565C>A	ENSP00000261488:p.Glu455*					ENOX1_ENST00000412891.1_Nonsense_Mutation_p.E455*	p.E455*	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)	12	1940	-		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)	455					A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Nonsense_Mutation	SNP	ENST00000261488.6	37	c.1363G>T	CCDS9389.1	.	.	.	.	.	.	.	.	.	.	C	40	8.021535	0.98613	.	.	ENSG00000120658	ENST00000261488;ENST00000412891	.	.	.	5.5	5.5	0.81552	.	0.295390	0.35677	N	0.003059	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	-5.2031	19.3845	0.94551	0.0:1.0:0.0:0.0	.	.	.	.	X	455	.	ENSP00000261488:E455X	E	-	1	0	ENOX1	42770565	1.000000	0.71417	0.638000	0.29380	0.878000	0.50629	3.580000	0.53907	2.586000	0.87340	0.655000	0.94253	GAA		0.527	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044717.2	NM_017993		38	103	1	0	1.03484e-13	0.005524	1.79972e-13	38	103				
BAI3	577	broad.mit.edu	37	6	69758171	69758171	+	Silent	SNP	C	C	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr6:69758171C>T	ENST00000370598.1	+	14	3023	c.2202C>T	c.(2200-2202)aaC>aaT	p.N734N		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	734					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.N734N(2)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GGGCAAGAAACTCAGAAGATA	0.383																																						ENST00000370598.1																			2	Substitution - coding silent(2)	p.N734N(2)	prostate(2)	NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(2200-2202)aaC>aaT		brain-specific angiogenesis inhibitor 3							78.0	83.0	81.0					6																	69758171		2203	4300	6503	SO:0001819	synonymous_variant	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69758171C>T	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2202C>T	6.37:g.69758171C>T							p.N734N	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			14	3023	+		all_lung(197;0.212)	734					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	ENST00000370598.1	37	c.2202C>T	CCDS4968.1																																																																																				0.383	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			9	52	0	0	0	0.006214	0	9	52				
FRG1B	284802	broad.mit.edu	37	20	29625885	29625885	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr20:29625885A>T	ENST00000278882.3	+	5	509	c.129A>T	c.(127-129)aaA>aaT	p.K43N	FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N|FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	43								p.K43N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCGCCCTGAAATCTGGCTATG	0.353																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.K43N(2)	prostate(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(127-129)aaA>aaT																																						SO:0001583	missense	0							g.chr20:29625885A>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.129A>T	20.37:g.29625885A>T	ENSP00000278882:p.Lys43Asn					FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N|FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N	p.K43N							5	509	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.129A>T		.	.	.	.	.	.	.	.	.	.	a	10.23	1.292024	0.23564	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.62364	0.03	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.74145	0.3678	.	.	.	0.48762	D	0.999701	D	0.71674	0.998	D	0.79784	0.993	T	0.74598	-0.3612	9	0.87932	D	0	.	7.3757	0.26827	1.0:0.0:0.0:0.0	.	48	F5H5R5	.	N	43;48;43	ENSP00000408863:K48N	ENSP00000278882:K43N	K	+	3	2	FRG1B	28239546	1.000000	0.71417	1.000000	0.80357	0.064000	0.16182	0.595000	0.24029	1.028000	0.39785	0.155000	0.16302	AAA		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	113	0	0	0	0.003080	0	6	113				
AGPAT2	10555	broad.mit.edu	37	9	139581703	139581703	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr9:139581703A>T	ENST00000371696.2	-	1	172	c.107T>A	c.(106-108)cTg>cAg	p.L36Q	AGPAT2_ENST00000371694.3_Missense_Mutation_p.L36Q|AGPAT2_ENST00000538402.1_Missense_Mutation_p.L36Q	NM_006412.3	NP_006403.2	O15120	PLCB_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 2	36					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|epidermis development (GO:0008544)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.L36Q(1)		endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		CGTGAAGCACAGCGCGCAGTA	0.726																																						ENST00000371696.2																			1	Substitution - Missense(1)	p.L36Q(1)	prostate(1)	endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6						c.(106-108)cTg>cAg		1-acylglycerol-3-phosphate O-acyltransferase 2							18.0	21.0	20.0					9																	139581703		1981	4000	5981	SO:0001583	missense	10555				phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr9:139581703A>T	AF000237	CCDS7003.1, CCDS35181.1	9q34.3	2013-02-05	2013-02-05		ENSG00000169692	ENSG00000169692	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	325	protein-coding gene	gene with protein product	"""LPAAT-beta"", ""lysophosphatidic acid acyltransferase, beta"""	603100	"""Berardinelli-Seip congenital lipodystrophy"", ""1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta)"""	BSCL		9242711, 9212163	Standard	NM_006412		Approved		uc004cii.1	O15120	OTTHUMG00000020936	ENST00000371696.2:c.107T>A	9.37:g.139581703A>T	ENSP00000360761:p.Leu36Gln					AGPAT2_ENST00000538402.1_Missense_Mutation_p.L36Q|AGPAT2_ENST00000371694.3_Missense_Mutation_p.L36Q	p.L36Q	NM_006412.3	NP_006403.2	O15120	PLCB_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)	1	172	-	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)	36					O00516|O15106|Q5VUD3|Q5VUD4|Q9BSV7|Q9BWR7	Missense_Mutation	SNP	ENST00000371696.2	37	c.107T>A	CCDS7003.1	.	.	.	.	.	.	.	.	.	.	A	18.16	3.563288	0.65538	.	.	ENSG00000169692	ENST00000371694;ENST00000371696;ENST00000538402	D;D;D	0.88741	-2.19;-2.42;-2.42	2.34	1.13	0.20643	.	0.442058	0.21060	U	0.080853	D	0.88797	0.6534	L	0.53249	1.67	0.32468	N	0.543233	D;P	0.57571	0.98;0.939	P;P	0.58721	0.844;0.62	D	0.86068	0.1536	10	0.37606	T	0.19	.	5.8652	0.18771	0.7658:0.0:0.0:0.2342	.	36;36	O15120-2;O15120	.;PLCB_HUMAN	Q	36	ENSP00000360759:L36Q;ENSP00000360761:L36Q;ENSP00000438919:L36Q	ENSP00000360759:L36Q	L	-	2	0	AGPAT2	138701524	0.044000	0.20184	0.829000	0.32907	0.774000	0.43823	0.601000	0.24119	0.315000	0.23110	0.255000	0.18592	CTG		0.726	AGPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055090.1	NM_006412		5	34	0	0	0	0.001168	0	5	34				
CEP128	145508	broad.mit.edu	37	14	81251838	81251838	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr14:81251838G>A	ENST00000555265.1	-	15	1987	c.1612C>T	c.(1612-1614)Caa>Taa	p.Q538*	CEP128_ENST00000281129.3_Nonsense_Mutation_p.Q538*			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	538						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TTCTCTATTTGTTGTAATGCT	0.353																																						ENST00000555265.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(1612-1614)Caa>Taa		centrosomal protein 128kDa							33.0	30.0	31.0					14																	81251838		2203	4295	6498	SO:0001587	stop_gained	145508					centriole|spindle pole		g.chr14:81251838G>A	AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 61"", ""chromosome 14 open reading frame 145"""	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.1612C>T	14.37:g.81251838G>A	ENSP00000451162:p.Gln538*					CEP128_ENST00000281129.3_Nonsense_Mutation_p.Q538*	p.Q538*			Q6ZU80	CE128_HUMAN			15	1987	-			538					B9EK52|Q86X97|Q96ML4	Nonsense_Mutation	SNP	ENST00000555265.1	37	c.1612C>T	CCDS32130.1	.	.	.	.	.	.	.	.	.	.	G	40	8.266343	0.98735	.	.	ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619	.	.	.	5.75	5.75	0.90469	.	0.071231	0.56097	D	0.000036	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	20.3028	0.98618	0.0:0.0:1.0:0.0	.	.	.	.	X	538	.	ENSP00000281129:Q538X	Q	-	1	0	CEP128	80321591	1.000000	0.71417	1.000000	0.80357	0.410000	0.31052	7.821000	0.86641	2.876000	0.98609	0.643000	0.83706	CAA		0.353	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446		11	22	0	0	0	0.000978	0	11	22				
FAM78B	149297	broad.mit.edu	37	1	166039642	166039642	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr1:166039642G>A	ENST00000338353.3	-	3	1211	c.622C>T	c.(622-624)Cgg>Tgg	p.R208W	FAM78B_ENST00000354422.3_Missense_Mutation_p.R208W			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	208								p.R208W(2)		central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					AGCCGGGCCCGCTGCCCCAAG	0.582																																						ENST00000338353.3																			2	Substitution - Missense(2)	p.R208W(2)	prostate(2)	central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(622-624)Cgg>Tgg		family with sequence similarity 78, member B							98.0	93.0	95.0					1																	166039642		2203	4300	6503	SO:0001583	missense	149297							g.chr1:166039642G>A	AL626787	CCDS30931.1	1q24.1	2008-02-05			ENSG00000188859	ENSG00000188859			13495	protein-coding gene	gene with protein product							Standard	NM_001017961		Approved		uc021pee.1	Q5VT40	OTTHUMG00000034705	ENST00000338353.3:c.622C>T	1.37:g.166039642G>A	ENSP00000339681:p.Arg208Trp					FAM78B_ENST00000354422.3_Missense_Mutation_p.R208W	p.R208W			Q5VT40	FA78B_HUMAN			3	1211	-	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)		208					B7Z693	Missense_Mutation	SNP	ENST00000338353.3	37	c.622C>T	CCDS30931.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.151357	0.57151	.	.	ENSG00000188859	ENST00000354422;ENST00000338353	.	.	.	5.71	3.78	0.43462	.	0.000000	0.85682	D	0.000000	T	0.66346	0.2780	M	0.75777	2.31	0.53688	D	0.999971	D	0.89917	1.0	D	0.80764	0.994	T	0.73288	-0.4030	8	0.87932	D	0	-17.2283	12.878	0.58001	0.0:0.0:0.7037:0.2963	.	208	Q5VT40	FA78B_HUMAN	W	208	.	ENSP00000339681:R208W	R	-	1	2	FAM78B	164306266	1.000000	0.71417	0.967000	0.41034	0.852000	0.48524	5.238000	0.65366	0.709000	0.31976	0.655000	0.94253	CGG		0.582	FAM78B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343108.1	NM_001017961		24	62	0	0	0	0.002780	0	24	62				
HIST1H3G	8355	broad.mit.edu	37	6	26271452	26271452	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr6:26271452C>T	ENST00000305910.3	-	1	160	c.161G>A	c.(160-162)cGc>cAc	p.R54H	HIST1H2BI_ENST00000377733.2_5'Flank	NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	54					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)	p.R54H(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						CTTCTGATAGCGGCGAATCTC	0.607																																						ENST00000305910.3																			1	Substitution - Missense(1)	p.R54H(1)	prostate(1)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(160-162)cGc>cAc		histone cluster 1, H3g							65.0	69.0	67.0					6																	26271452		2203	4300	6503	SO:0001583	missense	8355				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26271452C>T	Z80785	CCDS4602.1	6p22.1	2011-07-22	2006-10-11	2003-03-14	ENSG00000256018			"""Histones / Replication-dependent"""	4772	protein-coding gene	gene with protein product		602815	"""H3 histone family, member H"", ""histone 1, H3g"""	H3FH		9119399, 12408966	Standard	NM_003534		Approved	H3/h	uc003nhi.3	P68431	OTTHUMG00000014436	ENST00000305910.3:c.161G>A	6.37:g.26271452C>T	ENSP00000439660:p.Arg54His						p.R54H	NM_003534.2	NP_003525.1	P68431	H31_HUMAN			1	160	-			54					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000305910.3	37	c.161G>A	CCDS4602.1	.	.	.	.	.	.	.	.	.	.	.	17.70	3.453477	0.63290	.	.	ENSG00000256018	ENST00000305910	T	0.46063	0.88	4.42	4.42	0.53409	.	.	.	.	.	T	0.51075	0.1653	.	.	.	0.45272	D	0.998279	.	.	.	.	.	.	T	0.56438	-0.7979	6	0.59425	D	0.04	.	16.4001	0.83637	0.0:1.0:0.0:0.0	.	.	.	.	H	54	ENSP00000439660:R54H	ENSP00000439660:R54H	R	-	2	0	HIST1H3G	26379431	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.676000	0.61627	2.183000	0.69458	0.563000	0.77884	CGC		0.607	HIST1H3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040099.2	NM_003534		7	105	0	0	0	0.001984	0	7	105				
COMMD4	54939	broad.mit.edu	37	15	75631620	75631620	+	Missense_Mutation	SNP	T	T	C	rs373430411		TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr15:75631620T>C	ENST00000267935.8	+	6	516	c.317T>C	c.(316-318)cTg>cCg	p.L106P	COMMD4_ENST00000564815.1_Missense_Mutation_p.L84P|COMMD4_ENST00000562789.1_Missense_Mutation_p.L112P|COMMD4_ENST00000567195.1_Intron|COMMD4_ENST00000338995.6_Missense_Mutation_p.L106P	NM_017828.3	NP_060298.2	Q9H0A8	COMD4_HUMAN	COMM domain containing 4	106						cytoplasm (GO:0005737)		p.L106P(3)		breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	10						GCGGCCAGCCTGTGCCGCTGT	0.622																																						ENST00000267935.8																			3	Substitution - Missense(3)	p.L106P(3)	prostate(1)|lung(1)|kidney(1)	breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	10						c.(316-318)cTg>cCg		COMM domain containing 4		T	PRO/LEU	0,4394		0,0,2197	30.0	32.0	31.0		317	4.6	1.0	15		31	2,8586	2.2+/-6.3	0,2,4292	no	missense	COMMD4	NM_017828.3	98	0,2,6489	CC,CT,TT		0.0233,0.0,0.0154	possibly-damaging	106/200	75631620	2,12980	2197	4294	6491	SO:0001583	missense	54939					cytoplasm	protein binding	g.chr15:75631620T>C	AY542160	CCDS10277.1, CCDS66834.1, CCDS66835.1, CCDS73764.1	15q24.2	2012-09-20			ENSG00000140365	ENSG00000140365			26027	protein-coding gene	gene with protein product						15799966	Standard	XM_005254511		Approved	FLJ20452	uc002azy.3	Q9H0A8	OTTHUMG00000142823	ENST00000267935.8:c.317T>C	15.37:g.75631620T>C	ENSP00000267935:p.Leu106Pro					COMMD4_ENST00000564815.1_Missense_Mutation_p.L84P|COMMD4_ENST00000562789.1_Missense_Mutation_p.L112P|COMMD4_ENST00000338995.6_Missense_Mutation_p.L106P|COMMD4_ENST00000567195.1_Intron	p.L106P	NM_017828.3	NP_060298.2	Q9H0A8	COMD4_HUMAN			6	516	+			106					B2RBN4|H3BUL2|Q7L637|Q9NX43	Missense_Mutation	SNP	ENST00000267935.8	37	c.317T>C	CCDS10277.1	.	.	.	.	.	.	.	.	.	.	T	17.10	3.302500	0.60195	0.0	2.33E-4	ENSG00000140365	ENST00000267935;ENST00000338995	T;T	0.15834	2.39;2.39	4.58	4.58	0.56647	.	0.000000	0.64402	D	0.000002	T	0.41488	0.1161	M	0.88450	2.955	0.80722	D	1	B;D	0.56035	0.21;0.974	B;P	0.56042	0.191;0.79	T	0.52087	-0.8622	10	0.66056	D	0.02	.	13.4655	0.61251	0.0:0.0:0.0:1.0	.	106;106	Q9H0A8-2;Q9H0A8	.;COMD4_HUMAN	P	106	ENSP00000267935:L106P;ENSP00000340867:L106P	ENSP00000267935:L106P	L	+	2	0	COMMD4	73418673	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	4.948000	0.63590	1.844000	0.53588	0.487000	0.48397	CTG		0.622	COMMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286414.1	NM_017828		3	45	0	0	0	0.004672	0	3	45				
CCDC93	54520	broad.mit.edu	37	2	118715997	118715997	+	Missense_Mutation	SNP	G	G	C	rs200247512		TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr2:118715997G>C	ENST00000376300.2	-	12	1086	c.949C>G	c.(949-951)Cgg>Ggg	p.R317G	CCDC93_ENST00000319432.5_Missense_Mutation_p.R316G|CCDC93_ENST00000460781.1_5'UTR	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	317								p.R317G(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						ATGACTTTCCGGCGATGTAGC	0.398																																						ENST00000376300.2																			2	Substitution - Missense(2)	p.R317G(2)	prostate(1)|breast(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						c.(949-951)Cgg>Ggg		coiled-coil domain containing 93							125.0	109.0	114.0					2																	118715997		2203	4300	6503	SO:0001583	missense	54520							g.chr2:118715997G>C	BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.949C>G	2.37:g.118715997G>C	ENSP00000365477:p.Arg317Gly					CCDC93_ENST00000319432.5_Missense_Mutation_p.R316G|CCDC93_ENST00000460781.1_5'UTR	p.R317G	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN			12	1086	-			317					A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Missense_Mutation	SNP	ENST00000376300.2	37	c.949C>G	CCDS2121.2	.	.	.	.	.	.	.	.	.	.	G	12.37	1.919036	0.33908	.	.	ENSG00000125633	ENST00000376300;ENST00000319432	T;T	0.24151	1.87;1.88	5.33	5.33	0.75918	.	0.124524	0.51477	D	0.000096	T	0.43077	0.1231	L	0.53249	1.67	0.35884	D	0.829154	D	0.69078	0.997	D	0.63793	0.918	T	0.44436	-0.9328	10	0.41790	T	0.15	-1.4156	14.4662	0.67485	0.0:0.0:1.0:0.0	.	317	Q567U6	CCD93_HUMAN	G	317;316	ENSP00000365477:R317G;ENSP00000324135:R316G	ENSP00000324135:R316G	R	-	1	2	CCDC93	118432467	0.989000	0.36119	0.989000	0.46669	0.138000	0.21146	2.782000	0.47758	2.789000	0.95967	0.558000	0.71614	CGG		0.398	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000129615.1	NM_019044		14	42	0	0	0	0.002450	0	14	42				
TBX5	6910	broad.mit.edu	37	12	114793645	114793645	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr12:114793645G>A	ENST00000310346.4	-	9	1915	c.1249C>T	c.(1249-1251)Ccc>Tcc	p.P417S	TBX5_ENST00000405440.2_Missense_Mutation_p.P417S|TBX5_ENST00000349716.5_Missense_Mutation_p.P367S	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	417					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.P417S(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CTGTCCATGGGCTGCACGGTG	0.657																																					NSCLC(152;1358 1980 4050 23898 40356)	ENST00000310346.4																			1	Substitution - Missense(1)	p.P417S(1)	prostate(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1249-1251)Ccc>Tcc		T-box 5							44.0	39.0	41.0					12																	114793645		2202	4300	6502	SO:0001583	missense	6910				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr12:114793645G>A	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.1249C>T	12.37:g.114793645G>A	ENSP00000309913:p.Pro417Ser					TBX5_ENST00000349716.5_Missense_Mutation_p.P367S|TBX5_ENST00000405440.2_Missense_Mutation_p.P417S	p.P417S	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	9	1915	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		417					A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	ENST00000310346.4	37	c.1249C>T	CCDS9173.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.707842	0.48412	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440	T;T;T	0.48836	0.8;0.8;0.8	4.99	3.89	0.44902	.	0.180678	0.49305	D	0.000155	T	0.40347	0.1113	L	0.55103	1.725	0.80722	D	1	B	0.12630	0.006	B	0.15484	0.013	T	0.25328	-1.0135	10	0.10111	T	0.7	.	14.2394	0.65948	0.085:0.0:0.915:0.0	.	417	Q99593	TBX5_HUMAN	S	367;417;314;417	ENSP00000337723:P367S;ENSP00000309913:P417S;ENSP00000384152:P417S	ENSP00000309913:P417S	P	-	1	0	TBX5	113278028	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.598000	0.82745	2.321000	0.78463	0.655000	0.94253	CCC		0.657	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		11	46	0	0	0	0.000978	0	11	46				
FMO1	2326	broad.mit.edu	37	1	171250000	171250000	+	Missense_Mutation	SNP	T	T	C	rs148980563		TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr1:171250000T>C	ENST00000354841.4	+	5	834	c.703T>C	c.(703-705)Ttc>Ctc	p.F235L	FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Missense_Mutation_p.F172L|FMO1_ENST00000367750.3_Missense_Mutation_p.F235L	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	235					NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)	p.F235L(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	GGACATGGTGTTCATGACACG	0.493													T|||	1	0.000199681	0.0	0.0014	5008	,	,		19470	0.0		0.0	False		,,,				2504	0.0					ENST00000354841.4																			1	Substitution - Missense(1)	p.F235L(1)	prostate(1)	NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27						c.(703-705)Ttc>Ctc		flavin containing monooxygenase 1		T	LEU/PHE	11,4395	17.9+/-39.9	0,11,2192	119.0	103.0	108.0		703	2.4	0.4	1	dbSNP_134	108	0,8600		0,0,4300	yes	missense	FMO1	NM_002021.1	22	0,11,6492	CC,CT,TT		0.0,0.2497,0.0846	benign	235/533	171250000	11,12995	2203	4300	6503	SO:0001583	missense	2326				NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171250000T>C	M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.703T>C	1.37:g.171250000T>C	ENSP00000346901:p.Phe235Leu					FMO1_ENST00000367750.3_Missense_Mutation_p.F235L|FMO1_ENST00000402921.2_Missense_Mutation_p.F172L|FMO1_ENST00000469112.1_3'UTR	p.F235L			Q01740	FMO1_HUMAN			5	834	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		235					A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Missense_Mutation	SNP	ENST00000354841.4	37	c.703T>C	CCDS1294.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	T	8.570	0.879852	0.17467	0.002497	0.0	ENSG00000010932	ENST00000367750;ENST00000402921;ENST00000354841	T;T;T	0.43688	0.94;0.94;0.94	6.06	2.41	0.29592	.	0.345482	0.34046	N	0.004319	T	0.10937	0.0267	N	0.17901	0.54	0.40350	D	0.979123	P;B;P	0.41498	0.752;0.001;0.478	P;B;B	0.47346	0.544;0.004;0.305	T	0.18903	-1.0322	10	0.06099	T	0.92	-0.305	3.7208	0.08456	0.1306:0.071:0.1368:0.6617	.	172;235;235	B7Z3P4;B2RCG5;Q01740	.;.;FMO1_HUMAN	L	235;172;235	ENSP00000356724:F235L;ENSP00000385543:F172L;ENSP00000346901:F235L	ENSP00000346901:F235L	F	+	1	0	FMO1	169516624	0.003000	0.15002	0.381000	0.26106	0.974000	0.67602	0.523000	0.22925	0.150000	0.19136	-0.313000	0.08912	TTC		0.493	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086212.1	NM_002021		18	61	0	0	0	0.004990	0	18	61				
SYTL2	54843	broad.mit.edu	37	11	85459457	85459457	+	Silent	SNP	A	A	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr11:85459457A>T	ENST00000528231.1	-	2	388	c.111T>A	c.(109-111)ccT>ccA	p.P37P	SYTL2_ENST00000389960.4_Silent_p.P37P|SYTL2_ENST00000524452.1_Silent_p.P37P|SYTL2_ENST00000316356.4_Silent_p.P37P|SYTL2_ENST00000527523.1_5'UTR	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	37	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.P37P(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TAATTTTTTCAGGCAAATGTC	0.393																																						ENST00000316356.4																			1	Substitution - coding silent(1)	p.P37P(1)	prostate(1)	breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(109-111)ccT>ccA		synaptotagmin-like 2							107.0	99.0	102.0					11																	85459457		2203	4299	6502	SO:0001819	synonymous_variant	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85459457A>T	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.111T>A	11.37:g.85459457A>T						SYTL2_ENST00000527523.1_5'UTR|SYTL2_ENST00000524452.1_Silent_p.P37P|SYTL2_ENST00000389960.4_Silent_p.P37P|SYTL2_ENST00000528231.1_Silent_p.P37P	p.P37P			Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	3	675	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	37			RabBD.		B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Silent	SNP	ENST00000528231.1	37	c.111T>A	CCDS53688.1																																																																																				0.393	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		5	78	0	0	0	0.000602	0	5	78				
MAP2K6	5608	broad.mit.edu	37	17	67513026	67513026	+	Silent	SNP	C	C	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr17:67513026C>T	ENST00000590474.1	+	3	401	c.114C>T	c.(112-114)tgC>tgT	p.C38C	MAP2K6_ENST00000589647.1_5'UTR	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	38					activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cell cycle arrest (GO:0007050)|cellular response to sorbitol (GO:0072709)|DNA damage induced protein phosphorylation (GO:0006975)|innate immune response (GO:0045087)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to ischemia (GO:0002931)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.C38C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					CCAAGGCTTGCATTTCTATTG	0.363																																						ENST00000590474.1																			1	Substitution - coding silent(1)	p.C38C(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20						c.(112-114)tgC>tgT		mitogen-activated protein kinase kinase 6							156.0	145.0	149.0					17																	67513026		2203	4300	6503	SO:0001819	synonymous_variant	5608				activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:67513026C>T	U39064	CCDS11686.1	17q	2011-06-09						"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6846	protein-coding gene	gene with protein product	"""protein kinase, mitogen-activated, kinase 6 (MAP kinase kinase 6)"""	601254		PRKMK6		8621675	Standard	XM_005257515		Approved	MEK6, MKK6, SAPKK3, MAPKK6	uc002jij.3	P52564		ENST00000590474.1:c.114C>T	17.37:g.67513026C>T						MAP2K6_ENST00000589647.1_5'UTR	p.C38C	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN			3	401	+	Breast(10;6.05e-10)		38						Silent	SNP	ENST00000590474.1	37	c.114C>T	CCDS11686.1																																																																																				0.363	MAP2K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450689.1	NM_002758		5	106	0	0	0	0.000602	0	5	106				
TUBB8P7	197331	broad.mit.edu	37	16	90161902	90161902	+	RNA	SNP	A	A	G	rs6500471	byFrequency	TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr16:90161902A>G	ENST00000564451.1	+	0	1255				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.K213R(8)									ATATGTTCCAAGACCCTAAAA	0.537													.|||	3135	0.625998	0.9327	0.5014	5008	,	,		11498	0.7867		0.4702	False		,,,				2504	0.2945					ENST00000567960.1																			8	Substitution - Missense(8)	p.K213R(8)	kidney(4)|prostate(3)|urinary_tract(1)																																																0							g.chr16:90161902A>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161902A>G						TUBB8P7_ENST00000564451.1_RNA								0	638	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	45	0	0	0	0.003080	0	4	45				
TBCK	93627	broad.mit.edu	37	4	107216263	107216263	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr4:107216263C>G	ENST00000273980.5	-	4	701	c.254G>C	c.(253-255)aGg>aCg	p.R85T	TBCK_ENST00000394706.3_Missense_Mutation_p.R85T|TBCK_ENST00000394708.2_Missense_Mutation_p.R85T|TBCK_ENST00000361687.4_Missense_Mutation_p.R85T|TBCK_ENST00000432496.2_Missense_Mutation_p.R85T					TBC1 domain containing kinase									p.R85T(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						CACAGGTTTCCTTTCTCGAAG	0.378																																						ENST00000273980.4																			2	Substitution - Missense(2)	p.R85T(2)	prostate(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(253-255)aGg>aCg		TBC1 domain containing kinase							121.0	121.0	121.0					4																	107216263		2203	4300	6503	SO:0001583	missense	93627					intracellular	Rab GTPase activator activity	g.chr4:107216263C>G		CCDS3673.1, CCDS54788.1, CCDS54789.1	4q24	2014-09-17			ENSG00000145348	ENSG00000145348			28261	protein-coding gene	gene with protein product						12471243	Standard	XR_427553		Approved	MGC16169, HSPC302	uc010ilv.2	Q8TEA7	OTTHUMG00000131214	ENST00000273980.5:c.254G>C	4.37:g.107216263C>G	ENSP00000273980:p.Arg85Thr					TBCK_ENST00000394706.3_Missense_Mutation_p.R85T|TBCK_ENST00000394708.2_Missense_Mutation_p.R85T|TBCK_ENST00000361687.4_Missense_Mutation_p.R85T|TBCK_ENST00000432496.2_Missense_Mutation_p.R85T	p.R85T			Q8TEA7	TBCK_HUMAN			4	701	-			85			Protein kinase.			Missense_Mutation	SNP	ENST00000273980.5	37	c.254G>C	CCDS54788.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.310314	0.40895	.	.	ENSG00000145348	ENST00000273980;ENST00000432496;ENST00000361687;ENST00000394706;ENST00000394708;ENST00000509532;ENST00000509862	T;T;T;T;T;T;T	0.07800	3.16;3.16;3.16;3.16;3.16;3.16;3.16	4.7	4.7	0.59300	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.208477	0.49916	D	0.000126	T	0.08935	0.0221	L	0.39397	1.21	0.33724	D	0.617421	B;B;B	0.32283	0.016;0.103;0.362	B;B;B	0.28305	0.038;0.088;0.088	T	0.12477	-1.0546	10	0.44086	T	0.13	.	16.1641	0.81743	0.0:1.0:0.0:0.0	.	85;85;85	Q8TEA7;Q8TEA7-2;Q8TEA7-3	TBCK_HUMAN;.;.	T	85	ENSP00000273980:R85T;ENSP00000405847:R85T;ENSP00000355338:R85T;ENSP00000378196:R85T;ENSP00000378198:R85T;ENSP00000420985:R85T;ENSP00000425197:R85T	ENSP00000273980:R85T	R	-	2	0	TBCK	107435712	0.999000	0.42202	1.000000	0.80357	0.940000	0.58332	4.792000	0.62467	2.326000	0.78906	0.460000	0.39030	AGG		0.378	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253953.4	NM_033115		36	137	0	0	0	0.008740	0	36	137				
RBM27	54439	broad.mit.edu	37	5	145641192	145641192	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr5:145641192G>A	ENST00000265271.5	+	13	2179	c.2013G>A	c.(2011-2013)tgG>tgA	p.W671*	RBM27_ENST00000506502.1_Nonsense_Mutation_p.W616*	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	671	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.W671*(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGTCTTGTGGCATAGGGAAA	0.478																																						ENST00000265271.5																			1	Substitution - Nonsense(1)	p.W671*(1)	prostate(1)	NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(2011-2013)tgG>tgA		RNA binding motif protein 27							169.0	152.0	158.0					5																	145641192		1568	3582	5150	SO:0001587	stop_gained	54439				mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr5:145641192G>A	AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.2013G>A	5.37:g.145641192G>A	ENSP00000265271:p.Trp671*					RBM27_ENST00000506502.1_Nonsense_Mutation_p.W616*	p.W671*	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		13	2179	+			671			RRM.		Q8IYW9	Nonsense_Mutation	SNP	ENST00000265271.5	37	c.2013G>A	CCDS43378.1	.	.	.	.	.	.	.	.	.	.	G	41	8.870053	0.98984	.	.	ENSG00000091009	ENST00000265271	.	.	.	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.7965	19.3994	0.94621	0.0:0.0:1.0:0.0	.	.	.	.	X	671	.	ENSP00000265271:W671X	W	+	3	0	RBM27	145621385	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.593000	0.87608	0.561000	0.74099	TGG		0.478	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128		5	158	0	0	0	0.000602	0	5	158				
JAK1	3716	broad.mit.edu	37	1	65300335	65300335	+	Nonsense_Mutation	SNP	A	A	C			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	f9a7117d-d13d-40bb-9c4f-1e0105ba1928	g.chr1:65300335A>C	ENST00000342505.4	-	25	3623	c.3375T>G	c.(3373-3375)taT>taG	p.Y1125*		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	1125	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.Y1125*(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TCATAAGTTGATAAACCTGTA	0.303			Mis		ALL																																	ENST00000342505.4				Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		1	Substitution - Nonsense(1)	p.Y1125*(1)	prostate(1)	breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(3373-3375)taT>taG		Janus kinase 1							76.0	71.0	72.0					1																	65300335		1798	4066	5864	SO:0001587	stop_gained	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65300335A>C	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.3375T>G	1.37:g.65300335A>C	ENSP00000343204:p.Tyr1125*						p.Y1125*	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	25	3623	-			1125			Protein kinase 2.		Q59GQ2|Q9UD26	Nonsense_Mutation	SNP	ENST00000342505.4	37	c.3375T>G	CCDS41346.1	.	.	.	.	.	.	.	.	.	.	A	42	9.300036	0.99130	.	.	ENSG00000162434	ENST00000342505	.	.	.	5.01	3.87	0.44632	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.8321	7.7928	0.29129	0.7902:0.0:0.2098:0.0	.	.	.	.	X	1125	.	ENSP00000343204:Y1125X	Y	-	3	2	JAK1	65072923	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	0.955000	0.29188	2.101000	0.63845	0.528000	0.53228	TAT		0.303	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		3	66	0	0	0	0.004672	0	3	66				
MAP2K6	5608	broad.mit.edu	37	17	67513026	67513026	+	Silent	SNP	C	C	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	f9a7117d-d13d-40bb-9c4f-1e0105ba1928	g.chr17:67513026C>T	ENST00000590474.1	+	3	401	c.114C>T	c.(112-114)tgC>tgT	p.C38C	MAP2K6_ENST00000589647.1_5'UTR	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	38					activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cell cycle arrest (GO:0007050)|cellular response to sorbitol (GO:0072709)|DNA damage induced protein phosphorylation (GO:0006975)|innate immune response (GO:0045087)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to ischemia (GO:0002931)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.C38C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					CCAAGGCTTGCATTTCTATTG	0.363																																						ENST00000590474.1																			1	Substitution - coding silent(1)	p.C38C(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20						c.(112-114)tgC>tgT		mitogen-activated protein kinase kinase 6							156.0	145.0	149.0					17																	67513026		2203	4300	6503	SO:0001819	synonymous_variant	5608				activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:67513026C>T	U39064	CCDS11686.1	17q	2011-06-09						"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6846	protein-coding gene	gene with protein product	"""protein kinase, mitogen-activated, kinase 6 (MAP kinase kinase 6)"""	601254		PRKMK6		8621675	Standard	XM_005257515		Approved	MEK6, MKK6, SAPKK3, MAPKK6	uc002jij.3	P52564		ENST00000590474.1:c.114C>T	17.37:g.67513026C>T						MAP2K6_ENST00000589647.1_5'UTR	p.C38C	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN			3	401	+	Breast(10;6.05e-10)		38						Silent	SNP	ENST00000590474.1	37	c.114C>T	CCDS11686.1																																																																																				0.363	MAP2K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450689.1	NM_002758		5	106	0	0	0	0.014758	0	5	106				
HIST1H3G	8355	broad.mit.edu	37	6	26271452	26271452	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	f9a7117d-d13d-40bb-9c4f-1e0105ba1928	g.chr6:26271452C>T	ENST00000305910.3	-	1	160	c.161G>A	c.(160-162)cGc>cAc	p.R54H	HIST1H2BI_ENST00000377733.2_5'Flank	NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	54					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)	p.R54H(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						CTTCTGATAGCGGCGAATCTC	0.607																																						ENST00000305910.3																			1	Substitution - Missense(1)	p.R54H(1)	prostate(1)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(160-162)cGc>cAc		histone cluster 1, H3g							65.0	69.0	67.0					6																	26271452		2203	4300	6503	SO:0001583	missense	8355				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26271452C>T	Z80785	CCDS4602.1	6p22.1	2011-07-22	2006-10-11	2003-03-14	ENSG00000256018			"""Histones / Replication-dependent"""	4772	protein-coding gene	gene with protein product		602815	"""H3 histone family, member H"", ""histone 1, H3g"""	H3FH		9119399, 12408966	Standard	NM_003534		Approved	H3/h	uc003nhi.3	P68431	OTTHUMG00000014436	ENST00000305910.3:c.161G>A	6.37:g.26271452C>T	ENSP00000439660:p.Arg54His						p.R54H	NM_003534.2	NP_003525.1	P68431	H31_HUMAN			1	160	-			54					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000305910.3	37	c.161G>A	CCDS4602.1	.	.	.	.	.	.	.	.	.	.	.	17.70	3.453477	0.63290	.	.	ENSG00000256018	ENST00000305910	T	0.46063	0.88	4.42	4.42	0.53409	.	.	.	.	.	T	0.51075	0.1653	.	.	.	0.45272	D	0.998279	.	.	.	.	.	.	T	0.56438	-0.7979	6	0.59425	D	0.04	.	16.4001	0.83637	0.0:1.0:0.0:0.0	.	.	.	.	H	54	ENSP00000439660:R54H	ENSP00000439660:R54H	R	-	2	0	HIST1H3G	26379431	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.676000	0.61627	2.183000	0.69458	0.563000	0.77884	CGC		0.607	HIST1H3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040099.2	NM_003534		7	105	0	0	0	0.001984	0	7	105				
PRKCB	5579	broad.mit.edu	37	16	24104205	24104205	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	f9a7117d-d13d-40bb-9c4f-1e0105ba1928	g.chr16:24104205G>A	ENST00000321728.7	+	6	798	c.623G>A	c.(622-624)aGc>aAc	p.S208N	PRKCB_ENST00000303531.7_Missense_Mutation_p.S208N|PRKCB_ENST00000482000.1_3'UTR	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	208	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.S208N(3)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	AAAAGTGAGAGCAAACAGAAG	0.443																																						ENST00000303531.7																			3	Substitution - Missense(3)	p.S208N(3)	prostate(3)	central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9						c.(622-624)aGc>aAc		protein kinase C, beta	Vitamin E(DB00163)						177.0	149.0	159.0					16																	24104205		2197	4300	6497	SO:0001583	missense	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:24104205G>A	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.623G>A	16.37:g.24104205G>A	ENSP00000318315:p.Ser208Asn					PRKCB_ENST00000482000.1_3'UTR|PRKCB_ENST00000321728.7_Missense_Mutation_p.S208N	p.S208N	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN			6	775	+			208			C2.		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	c.623G>A	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.819696	0.71028	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.69435	-0.4;-0.4	5.38	5.38	0.77491	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.58032	0.2094	L	0.28740	0.885	0.80722	D	1	B;B	0.10296	0.002;0.003	B;B	0.18561	0.008;0.022	T	0.51212	-0.8734	10	0.33940	T	0.23	.	18.4836	0.90820	0.0:0.0:1.0:0.0	.	208;208	P05771-2;P05771	.;KPCB_HUMAN	N	208	ENSP00000318315:S208N;ENSP00000305355:S208N	ENSP00000305355:S208N	S	+	2	0	PRKCB	24011706	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.328000	0.96403	2.681000	0.91329	0.650000	0.86243	AGC		0.443	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		9	104	0	0	0	0.008291	0	9	104				
CCDC93	54520	broad.mit.edu	37	2	118715997	118715997	+	Missense_Mutation	SNP	G	G	C	rs200247512		TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	f9a7117d-d13d-40bb-9c4f-1e0105ba1928	g.chr2:118715997G>C	ENST00000376300.2	-	12	1086	c.949C>G	c.(949-951)Cgg>Ggg	p.R317G	CCDC93_ENST00000319432.5_Missense_Mutation_p.R316G|CCDC93_ENST00000460781.1_5'UTR	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	317								p.R317G(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						ATGACTTTCCGGCGATGTAGC	0.398																																						ENST00000376300.2																			2	Substitution - Missense(2)	p.R317G(2)	prostate(1)|breast(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						c.(949-951)Cgg>Ggg		coiled-coil domain containing 93							125.0	109.0	114.0					2																	118715997		2203	4300	6503	SO:0001583	missense	54520							g.chr2:118715997G>C	BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.949C>G	2.37:g.118715997G>C	ENSP00000365477:p.Arg317Gly					CCDC93_ENST00000319432.5_Missense_Mutation_p.R316G|CCDC93_ENST00000460781.1_5'UTR	p.R317G	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN			12	1086	-			317					A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Missense_Mutation	SNP	ENST00000376300.2	37	c.949C>G	CCDS2121.2	.	.	.	.	.	.	.	.	.	.	G	12.37	1.919036	0.33908	.	.	ENSG00000125633	ENST00000376300;ENST00000319432	T;T	0.24151	1.87;1.88	5.33	5.33	0.75918	.	0.124524	0.51477	D	0.000096	T	0.43077	0.1231	L	0.53249	1.67	0.35884	D	0.829154	D	0.69078	0.997	D	0.63793	0.918	T	0.44436	-0.9328	10	0.41790	T	0.15	-1.4156	14.4662	0.67485	0.0:0.0:1.0:0.0	.	317	Q567U6	CCD93_HUMAN	G	317;316	ENSP00000365477:R317G;ENSP00000324135:R316G	ENSP00000324135:R316G	R	-	1	2	CCDC93	118432467	0.989000	0.36119	0.989000	0.46669	0.138000	0.21146	2.782000	0.47758	2.789000	0.95967	0.558000	0.71614	CGG		0.398	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000129615.1	NM_019044		14	42	0	0	0	0.020292	0	14	42				
SYTL2	54843	broad.mit.edu	37	11	85459457	85459457	+	Silent	SNP	A	A	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	f9a7117d-d13d-40bb-9c4f-1e0105ba1928	g.chr11:85459457A>T	ENST00000528231.1	-	2	388	c.111T>A	c.(109-111)ccT>ccA	p.P37P	SYTL2_ENST00000389960.4_Silent_p.P37P|SYTL2_ENST00000524452.1_Silent_p.P37P|SYTL2_ENST00000316356.4_Silent_p.P37P|SYTL2_ENST00000527523.1_5'UTR	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	37	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.P37P(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TAATTTTTTCAGGCAAATGTC	0.393																																						ENST00000316356.4																			1	Substitution - coding silent(1)	p.P37P(1)	prostate(1)	breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(109-111)ccT>ccA		synaptotagmin-like 2							107.0	99.0	102.0					11																	85459457		2203	4299	6502	SO:0001819	synonymous_variant	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85459457A>T	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.111T>A	11.37:g.85459457A>T						SYTL2_ENST00000524452.1_Silent_p.P37P|SYTL2_ENST00000528231.1_Silent_p.P37P|SYTL2_ENST00000527523.1_5'UTR|SYTL2_ENST00000389960.4_Silent_p.P37P	p.P37P			Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	3	675	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	37			RabBD.		B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Silent	SNP	ENST00000528231.1	37	c.111T>A	CCDS53688.1																																																																																				0.393	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		5	78	0	0	0	0.014758	0	5	78				
BAGE2	85319	broad.mit.edu	37	21	11058322	11058322	+	RNA	SNP	C	C	T			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	f9a7117d-d13d-40bb-9c4f-1e0105ba1928	g.chr21:11058322C>T	ENST00000470054.1	-	0	325							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAATGCACATCGCTGAAAGGG	0.383																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							92.0	70.0	77.0					21																	11058322		692	1591	2283			85319							g.chr21:11058322C>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058322C>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	325	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.383	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		10	184	0	0	0	0.008291	0	10	184				
CEP290	80184	broad.mit.edu	37	12	88514920	88514920	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	f9a7117d-d13d-40bb-9c4f-1e0105ba1928	g.chr12:88514920T>C	ENST00000552810.1	-	14	1556	c.1213A>G	c.(1213-1215)Act>Gct	p.T405A	CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Missense_Mutation_p.T405A	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	405					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)		p.T405A(2)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TTCATATGAGTCTGTTGAGAA	0.383																																						ENST00000552810.1																			2	Substitution - Missense(2)	p.T405A(2)	prostate(2)	breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						c.(1213-1215)Act>Gct		centrosomal protein 290kDa							89.0	80.0	83.0					12																	88514920		1820	4080	5900	SO:0001583	missense	80184				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	g.chr12:88514920T>C	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.1213A>G	12.37:g.88514920T>C	ENSP00000448012:p.Thr405Ala					CEP290_ENST00000309041.7_Missense_Mutation_p.T405A|CEP290_ENST00000397838.3_5'UTR	p.T405A	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN			14	1556	-			405					Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	37	c.1213A>G	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	T	10.13	1.264762	0.23136	.	.	ENSG00000198707	ENST00000552810;ENST00000309041;ENST00000536998;ENST00000545139	T;T	0.63580	-0.04;-0.05	5.84	3.43	0.39272	.	0.428727	0.25711	N	0.028811	T	0.41719	0.1171	N	0.22421	0.69	0.80722	D	1	B;B	0.24920	0.114;0.114	B;B	0.24394	0.036;0.053	T	0.09975	-1.0650	10	0.13108	T	0.6	.	7.5783	0.27950	0.1267:0.0682:0.0:0.8051	.	405;405	Q05BJ6;O15078	.;CE290_HUMAN	A	405;405;405;307	ENSP00000448012:T405A;ENSP00000308021:T405A	ENSP00000308021:T405A	T	-	1	0	CEP290	87039051	1.000000	0.71417	0.911000	0.35937	0.254000	0.26022	3.678000	0.54627	0.447000	0.26695	0.482000	0.46254	ACT		0.383	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		3	43	0	0	0	0.004672	0	3	43				
C19orf26	255057	broad.mit.edu	37	19	1233530	1233530	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	f9a7117d-d13d-40bb-9c4f-1e0105ba1928	g.chr19:1233530T>G	ENST00000382477.2	-	8	1208	c.934A>C	c.(934-936)Acc>Ccc	p.T312P	C19orf26_ENST00000590083.1_Missense_Mutation_p.T292P|C19orf26_ENST00000215376.6_Missense_Mutation_p.T286P			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	312						integral component of membrane (GO:0016021)		p.T286P(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCAGGCGGGTGAGGAACTGC	0.697										HNSCC(14;0.022)																												ENST00000590083.1																			1	Substitution - Missense(1)	p.T286P(1)	lung(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						c.(874-876)Acc>Ccc		chromosome 19 open reading frame 26																																				SO:0001583	missense	255057					integral to membrane		g.chr19:1233530T>G	BC028156	CCDS12057.1, CCDS12057.2	19p13.3	2012-10-24			ENSG00000099625	ENSG00000099625			28617	protein-coding gene	gene with protein product	"""downstream of STK11"""					12477932	Standard	NM_152769		Approved	MGC40084, DOS	uc002lrm.3	Q8N350	OTTHUMG00000180141	ENST00000382477.2:c.934A>C	19.37:g.1233530T>G	ENSP00000371917:p.Thr312Pro	HNSCC(14;0.022)				C19orf26_ENST00000382477.2_Missense_Mutation_p.T312P|C19orf26_ENST00000215376.6_Missense_Mutation_p.T286P	p.T292P			Q8N350	DOS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	1166	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	312					O43385	Missense_Mutation	SNP	ENST00000382477.2	37	c.874A>C		.	.	.	.	.	.	.	.	.	.	T	16.47	3.133294	0.56828	.	.	ENSG00000099625	ENST00000382477;ENST00000215376	T;T	0.20200	2.09;2.09	4.08	1.84	0.25277	.	0.286229	0.32161	N	0.006495	T	0.28267	0.0698	M	0.63843	1.955	0.39322	D	0.965261	D	0.53745	0.962	P	0.52481	0.7	T	0.04320	-1.0960	10	0.72032	D	0.01	.	5.9086	0.19014	0.0:0.0926:0.1662:0.7412	.	286	Q8N350-2	.	P	312;286	ENSP00000371917:T312P;ENSP00000215376:T286P	ENSP00000215376:T286P	T	-	1	0	C19orf26	1184530	1.000000	0.71417	0.474000	0.27266	0.693000	0.40251	0.737000	0.26144	0.192000	0.20272	0.418000	0.28097	ACC		0.697	C19orf26-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_152769		3	20	0	0	0	0.003080	0	3	20				
JAK1	3716	broad.mit.edu	37	1	65301865	65301865	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	f9a7117d-d13d-40bb-9c4f-1e0105ba1928	g.chr1:65301865A>C	ENST00000342505.4	-	23	3422	c.3174T>G	c.(3172-3174)ttT>ttG	p.F1058L		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	1058	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.F1058L(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	AGGCAATATAAAATTTAGATT	0.423			Mis		ALL																																	ENST00000342505.4				Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		1	Substitution - Missense(1)	p.F1058L(1)	prostate(1)	breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(3172-3174)ttT>ttG		Janus kinase 1							82.0	79.0	80.0					1																	65301865		1876	4127	6003	SO:0001583	missense	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65301865A>C	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.3174T>G	1.37:g.65301865A>C	ENSP00000343204:p.Phe1058Leu						p.F1058L	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	23	3422	-			1058			Protein kinase 2.		Q59GQ2|Q9UD26	Missense_Mutation	SNP	ENST00000342505.4	37	c.3174T>G	CCDS41346.1	.	.	.	.	.	.	.	.	.	.	A	16.03	3.008013	0.54361	.	.	ENSG00000162434	ENST00000342505	D	0.88896	-2.44	5.02	-1.65	0.08291	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.88559	0.6469	L	0.49256	1.55	0.58432	D	0.999993	D	0.89917	1.0	D	0.83275	0.996	D	0.87010	0.2122	9	0.59425	D	0.04	-5.1318	11.9287	0.52835	0.5409:0.0:0.4591:0.0	.	1058	P23458	JAK1_HUMAN	L	1058	ENSP00000343204:F1058L	ENSP00000343204:F1058L	F	-	3	2	JAK1	65074453	0.998000	0.40836	0.988000	0.46212	0.195000	0.23768	0.614000	0.24314	-0.176000	0.10707	-0.408000	0.06270	TTT		0.423	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		3	35	0	0	0	0.004672	0	3	35				
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	C	G	rs199732634		TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	f9a7117d-d13d-40bb-9c4f-1e0105ba1928	g.chr19:58385762C>G	ENST00000435989.2	-	3	1230	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	332					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S332S(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358																																						ENST00000435989.2																			2	Substitution - coding silent(2)	p.S332S(2)	kidney(2)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(994-996)tcG>tcC		zinc finger protein 814							25.0	25.0	25.0					19																	58385762		692	1589	2281	SO:0001819	synonymous_variant	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385762C>G		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.996G>C	19.37:g.58385762C>G						ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron	p.S332S	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	1230	-			332					A6NF35	Silent	SNP	ENST00000435989.2	37	c.996G>C	CCDS46212.1																																																																																				0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		2	3	0	0	0	0.004672	0	2	3				
WWC2	80014	broad.mit.edu	37	4	184182184	184182184	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	f9a7117d-d13d-40bb-9c4f-1e0105ba1928	g.chr4:184182184T>C	ENST00000403733.3	+	11	1607	c.1408T>C	c.(1408-1410)Tat>Cat	p.Y470H	WWC2_ENST00000448232.2_Missense_Mutation_p.Y470H|WWC2_ENST00000504005.1_Missense_Mutation_p.Y152H|WWC2_ENST00000378925.3_Missense_Mutation_p.Y372H|WWC2_ENST00000513834.1_Missense_Mutation_p.Y470H	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	470	Ser-rich.				negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)	p.Y470H(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		CACCGAACTCTATTACAGCAG	0.502																																						ENST00000403733.3																			1	Substitution - Missense(1)	p.Y470H(1)	prostate(1)	NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32						c.(1408-1410)Tat>Cat		WW and C2 domain containing 2							79.0	76.0	77.0					4																	184182184		2203	4300	6503	SO:0001583	missense	80014							g.chr4:184182184T>C	BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"""WW, C2 and coiled-coil domain containing"""	24148	protein-coding gene	gene with protein product			"""WW, C2 and coiled-coil domain containing 2"""			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.1408T>C	4.37:g.184182184T>C	ENSP00000384222:p.Tyr470His					WWC2_ENST00000513834.1_Missense_Mutation_p.Y470H|WWC2_ENST00000448232.2_Missense_Mutation_p.Y470H|WWC2_ENST00000504005.1_Missense_Mutation_p.Y152H|WWC2_ENST00000378925.3_Missense_Mutation_p.Y372H	p.Y470H	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)	11	1607	+		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)	470			Ser-rich.		Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Missense_Mutation	SNP	ENST00000403733.3	37	c.1408T>C	CCDS34109.2	.	.	.	.	.	.	.	.	.	.	T	15.97	2.990502	0.54041	.	.	ENSG00000151718	ENST00000403733;ENST00000378925;ENST00000513834;ENST00000448232;ENST00000504005	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	4.86	4.86	0.63082	.	0.000000	0.64402	D	0.000006	T	0.68412	0.2998	M	0.86651	2.83	0.53688	D	0.999973	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.74362	-0.3690	10	0.56958	D	0.05	-15.8765	14.628	0.68635	0.0:0.0:0.0:1.0	.	470;470	Q6AWC2;Q6AWC2-4	WWC2_HUMAN;.	H	470;372;470;470;152	ENSP00000384222:Y470H;ENSP00000368205:Y372H;ENSP00000425054:Y470H;ENSP00000398577:Y470H;ENSP00000427569:Y152H	ENSP00000368205:Y372H	Y	+	1	0	WWC2	184419178	1.000000	0.71417	0.904000	0.35570	0.055000	0.15305	7.833000	0.86765	2.046000	0.60703	0.528000	0.53228	TAT		0.502	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319608.1	NM_024949		3	55	0	0	0	0.004672	0	3	55				
FRG1B	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	f9a7117d-d13d-40bb-9c4f-1e0105ba1928	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	80								p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363																																						ENST00000278882.3																			8	Substitution - Missense(8)	p.A80P(8)	prostate(4)|kidney(4)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(238-240)Gct>Cct																																						SO:0001583	missense	0							g.chr20:29628236G>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.238G>C	20.37:g.29628236G>C	ENSP00000278882:p.Ala80Pro					FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P	p.A80P							6	618	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.238G>C		.	.	.	.	.	.	.	.	.	.	g	15.73	2.920277	0.52653	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.57595	0.39	2.08	2.08	0.27032	Actin cross-linking (1);	0.052409	0.85682	D	0.000000	T	0.68952	0.3057	.	.	.	0.80722	D	1	D;D	0.64830	0.994;0.988	D;D	0.85130	0.997;0.993	T	0.72766	-0.4194	9	0.87932	D	0	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	85;80	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	P	80;85;80	ENSP00000408863:A85P	ENSP00000278882:A80P	A	+	1	0	FRG1B	28241897	1.000000	0.71417	1.000000	0.80357	0.334000	0.28698	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	114	0	0	0	0.021553	0	6	114				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	f9a7117d-d13d-40bb-9c4f-1e0105ba1928	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		6	79	0	0	0	0.021553	0	6	79				
ACACB	32	broad.mit.edu	37	12	109639448	109639448	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	f9a7117d-d13d-40bb-9c4f-1e0105ba1928	g.chr12:109639448T>A	ENST00000338432.7	+	19	2974	c.2855T>A	c.(2854-2856)cTg>cAg	p.L952Q	ACACB_ENST00000377854.5_Missense_Mutation_p.L952Q|ACACB_ENST00000377848.3_Missense_Mutation_p.L952Q			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	952	Biotinyl-binding. {ECO:0000255|PROSITE- ProRule:PRU01066}.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.L952Q(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GGTGCCGTGCTGGAAGCAGGC	0.552																																						ENST00000338432.7																			1	Substitution - Missense(1)	p.L952Q(1)	prostate(1)	NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(2854-2856)cTg>cAg		acetyl-CoA carboxylase beta	Biotin(DB00121)						134.0	109.0	118.0					12																	109639448		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109639448T>A	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.2855T>A	12.37:g.109639448T>A	ENSP00000341044:p.Leu952Gln					ACACB_ENST00000377848.3_Missense_Mutation_p.L952Q|ACACB_ENST00000377854.5_Missense_Mutation_p.L952Q	p.L952Q			O00763	ACACB_HUMAN			19	2974	+			952			Biotinyl-binding.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.2855T>A	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.518310	0.85495	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027	T;T;T	0.60299	0.2;0.2;0.2	5.39	5.39	0.77823	Single hybrid motif (1);Biotin/lipoyl attachment (2);	0.000000	0.64402	D	0.000001	T	0.79299	0.4422	M	0.86573	2.825	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83539	0.0095	10	0.87932	D	0	.	15.4307	0.75092	0.0:0.0:0.0:1.0	.	952	O00763	ACACB_HUMAN	Q	952;952;952;183	ENSP00000341044:L952Q;ENSP00000367079:L952Q;ENSP00000367085:L952Q	ENSP00000341044:L952Q	L	+	2	0	ACACB	108123831	1.000000	0.71417	0.998000	0.56505	0.785000	0.44390	7.946000	0.87746	2.044000	0.60594	0.459000	0.35465	CTG		0.552	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		7	79	0	0	0	0.003080	0	7	79				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	f9a7117d-d13d-40bb-9c4f-1e0105ba1928	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																0							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		9	63	0	0	0	0.006214	0	9	63				
AHCTF1	25909	broad.mit.edu	37	1	247014376	247014376	+	Silent	SNP	G	G	C			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	f9a7117d-d13d-40bb-9c4f-1e0105ba1928	g.chr1:247014376G>C	ENST00000391829.2	-	33	5055	c.4932C>G	c.(4930-4932)gcC>gcG	p.A1644A	AHCTF1_ENST00000326225.3_Silent_p.A1653A|AHCTF1_ENST00000366508.1_Silent_p.A1679A|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1644	Disordered. {ECO:0000250}.|Mediates transcriptional activity. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A1644A(1)|p.A1653A(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CACTAGTTACGGCAGATGGCA	0.363																																					Colon(145;197 1800 4745 15099 26333)	ENST00000366508.1																			2	Substitution - coding silent(2)	p.A1644A(1)|p.A1653A(1)	prostate(2)	NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74						c.(5035-5037)gcC>gcG		AT hook containing transcription factor 1							116.0	114.0	115.0					1																	247014376		2203	4300	6503	SO:0001819	synonymous_variant	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247014376G>C		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.4932C>G	1.37:g.247014376G>C						AHCTF1_ENST00000326225.3_Silent_p.A1653A|AHCTF1_ENST00000391829.2_Silent_p.A1644A|AHCTF1_ENST00000470300.1_5'UTR	p.A1679A			Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		33	5173	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	1644			Mediates transcriptional activity (By similarity).|Necessary for nuclear localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Silent	SNP	ENST00000391829.2	37	c.5037C>G																																																																																					0.363	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		7	164	0	0	0	0.001984	0	7	164				
FLII	2314	broad.mit.edu	37	17	18151872	18151872	+	Missense_Mutation	SNP	G	G	C	rs542815509		TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	f9a7117d-d13d-40bb-9c4f-1e0105ba1928	g.chr17:18151872G>C	ENST00000327031.4	-	18	2407	c.2182C>G	c.(2182-2184)Ctg>Gtg	p.L728V	FLII_ENST00000379450.4_Missense_Mutation_p.L642V|FLII_ENST00000545457.2_Missense_Mutation_p.L673V|FLII_ENST00000578558.1_Intron|FLII_ENST00000579294.1_Missense_Mutation_p.L717V	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	728	Interaction with ACTL6A.				multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)	p.L728V(1)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					ACCTTGTACAGCTTGGGCTGC	0.622											OREG0024225	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000327031.4																			1	Substitution - Missense(1)	p.L728V(1)	prostate(1)	central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(2182-2184)Ctg>Gtg		flightless I homolog (Drosophila)							44.0	47.0	46.0					17																	18151872		2203	4300	6503	SO:0001583	missense	2314				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding	g.chr17:18151872G>C	U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"""flightless I (Drosophila) homolog"""			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.2182C>G	17.37:g.18151872G>C	ENSP00000324573:p.Leu728Val		OREG0024225	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	723	FLII_ENST00000579294.1_Missense_Mutation_p.L717V|FLII_ENST00000379450.4_Missense_Mutation_p.L642V|FLII_ENST00000578558.1_Intron|FLII_ENST00000545457.2_Missense_Mutation_p.L673V	p.L728V	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN			18	2407	-	all_neural(463;0.228)		728			Interaction with ACTL6A.		B4DIL0|F5H407|J3QLG3	Missense_Mutation	SNP	ENST00000327031.4	37	c.2182C>G	CCDS11192.1	.	.	.	.	.	.	.	.	.	.	G	31	5.072199	0.93950	.	.	ENSG00000177731	ENST00000327031;ENST00000379450	T;T	0.21543	2.0;2.0	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.46983	0.1421	M	0.62088	1.915	0.80722	D	1	D;D;D;D	0.76494	0.997;0.997;0.999;0.997	D;D;D;D	0.78314	0.991;0.991;0.986;0.978	T	0.40905	-0.9538	10	0.87932	D	0	-12.729	19.4761	0.94989	0.0:0.0:1.0:0.0	.	642;642;728;697	E7EPM0;B4DIL0;Q13045;B4DIX0	.;.;FLII_HUMAN;.	V	728;642	ENSP00000324573:L728V;ENSP00000368763:L642V	ENSP00000324573:L728V	L	-	1	2	FLII	18092597	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.373000	0.97168	2.618000	0.88619	0.462000	0.41574	CTG		0.622	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	NM_002018		7	61	0	0	0	0.001984	0	7	61				
RBM27	54439	broad.mit.edu	37	5	145641192	145641192	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	f9a7117d-d13d-40bb-9c4f-1e0105ba1928	g.chr5:145641192G>A	ENST00000265271.5	+	13	2179	c.2013G>A	c.(2011-2013)tgG>tgA	p.W671*	RBM27_ENST00000506502.1_Nonsense_Mutation_p.W616*	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	671	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.W671*(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGTCTTGTGGCATAGGGAAA	0.478																																						ENST00000265271.5																			1	Substitution - Nonsense(1)	p.W671*(1)	prostate(1)	NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(2011-2013)tgG>tgA		RNA binding motif protein 27							169.0	152.0	158.0					5																	145641192		1568	3582	5150	SO:0001587	stop_gained	54439				mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr5:145641192G>A	AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.2013G>A	5.37:g.145641192G>A	ENSP00000265271:p.Trp671*					RBM27_ENST00000506502.1_Nonsense_Mutation_p.W616*	p.W671*	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		13	2179	+			671			RRM.		Q8IYW9	Nonsense_Mutation	SNP	ENST00000265271.5	37	c.2013G>A	CCDS43378.1	.	.	.	.	.	.	.	.	.	.	G	41	8.870053	0.98984	.	.	ENSG00000091009	ENST00000265271	.	.	.	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.7965	19.3994	0.94621	0.0:0.0:1.0:0.0	.	.	.	.	X	671	.	ENSP00000265271:W671X	W	+	3	0	RBM27	145621385	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.593000	0.87608	0.561000	0.74099	TGG		0.478	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128		5	158	0	0	0	0.014758	0	5	158				
FRG1B	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	f9a7117d-d13d-40bb-9c4f-1e0105ba1928	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	40								p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358																																						ENST00000278882.3																			4	Substitution - Missense(4)	p.I40T(4)	prostate(4)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(118-120)aTc>aCc																																						SO:0001583	missense	0							g.chr20:29625875T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.119T>C	20.37:g.29625875T>C	ENSP00000278882:p.Ile40Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T	p.I40T							5	499	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.119T>C		.	.	.	.	.	.	.	.	.	.	t	10.51	1.369778	0.24771	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.51071	0.72	1.68	1.68	0.24146	.	0.052751	0.64402	D	0.000001	T	0.59865	0.2225	.	.	.	0.51482	D	0.999924	P	0.49862	0.929	D	0.64687	0.928	T	0.59386	-0.7464	9	0.52906	T	0.07	.	7.3757	0.26827	0.0:0.0:0.0:1.0	.	45	F5H5R5	.	T	40;45;40	ENSP00000408863:I45T	ENSP00000278882:I40T	I	+	2	0	FRG1B	28239536	1.000000	0.71417	0.982000	0.44146	0.025000	0.11179	6.565000	0.73974	1.028000	0.39785	0.155000	0.16302	ATC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	101	0	0	0	0.006214	0	6	101				
OR5H14	403273	broad.mit.edu	37	3	97868429	97868429	+	Frame_Shift_Del	DEL	C	C	-			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr3:97868429delC	ENST00000437310.1	+	1	260	c.200delC	c.(199-201)gctfs	p.A67fs	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	67						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GGGAATTTAGCTTTTGTGGAT	0.398																																						ENST00000437310.1																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(199-201)gtfs		olfactory receptor, family 5, subfamily H, member 14							312.0	315.0	314.0					3																	97868429		2203	4300	6503	SO:0001589	frameshift_variant	403273				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97868429delC		CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"""GPCR / Class A : Olfactory receptors"""	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.200delC	3.37:g.97868429delC	ENSP00000401706:p.Ala67fs						p.A67fs	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN			1	260	+			67					B9EH15	Frame_Shift_Del	DEL	ENST00000437310.1	37	c.200delC	CCDS33798.1																																																																																				0.398	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1			10	296						10	296	---	---	---	---
MTUS1	57509	broad.mit.edu	37	8	17613213	17613215	+	In_Frame_Del	DEL	GGT	GGT	-	rs368852799		TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr8:17613213_17613215delGGT	ENST00000262102.6	-	2	326_328	c.102_104delACC	c.(100-105)ccacct>cct	p.34_35PP>P	MTUS1_ENST00000381862.3_In_Frame_Del_p.34_35PP>P|MTUS1_ENST00000519263.1_In_Frame_Del_p.34_35PP>P|MTUS1_ENST00000381869.3_In_Frame_Del_p.34_35PP>P	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	34					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		GTTTTGTGTAGGTGGTGATTTCG	0.399																																						ENST00000381869.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36						c.(100-105)cct>cc		microtubule associated tumor suppressor 1																																				SO:0001651	inframe_deletion	57509					Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		g.chr8:17613213_17613215delGGT	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.102_104delACC	8.37:g.17613216_17613218delGGT	ENSP00000262102:p.Pro35del					MTUS1_ENST00000262102.6_In_Frame_Del_p.PP34del|MTUS1_ENST00000381862.3_In_Frame_Del_p.PP34del|MTUS1_ENST00000519263.1_In_Frame_Del_p.PP34del	p.PP34del	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN		Colorectal(111;0.0778)	2	575_577	-			34					A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	In_Frame_Del	DEL	ENST00000262102.6	37	c.102_104delACC	CCDS43717.1																																																																																				0.399	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		10	158						10	158	---	---	---	---
NANOS1	340719	broad.mit.edu	37	10	120789635	120789637	+	In_Frame_Del	DEL	GAC	GAC	-			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr10:120789635_120789637delGAC	ENST00000425699.1	+	1	408_410	c.322_324delGAC	c.(322-324)gacdel	p.D112del		NM_199461.2	NP_955631.1	Q8WY41	NANO1_HUMAN	nanos homolog 1 (Drosophila)	112					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)			lung(1)	1		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0193)		ctacgacgaggacgacgacgacg	0.788																																						ENST00000425699.1																			0				lung(1)	1						c.(322-324)del		nanos homolog 1 (Drosophila)				3,1375		0,3,686						-0.2	1.0			2	36,3180		2,32,1574	no	coding	NANOS1	NM_199461.2		2,35,2260	A1A1,A1R,RR		1.1194,0.2177,0.8489				39,4555				SO:0001651	inframe_deletion	340719				epithelial cell migration	perinuclear region of cytoplasm	protein binding|RNA binding|translation repressor activity|zinc ion binding	g.chr10:120789635_120789637delGAC	AF275269	CCDS7607.1	10q26.13	2003-12-01			ENSG00000188613	ENSG00000188613			23044	protein-coding gene	gene with protein product		608226				12690449	Standard	NM_199461		Approved	NOS1	uc009xzf.1	Q8WY41	OTTHUMG00000019141	ENST00000425699.1:c.322_324delGAC	10.37:g.120789644_120789646delGAC	ENSP00000393275:p.Asp112del						p.D112del	NM_199461.2	NP_955631.1	Q8WY41	NANO1_HUMAN		all cancers(201;0.0193)	1	408_410	+		Lung NSC(174;0.094)|all_lung(145;0.123)	112						In_Frame_Del	DEL	ENST00000425699.1	37	c.322_324delGAC	CCDS7607.1																																																																																				0.788	NANOS1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000110794.1			2	4						2	4	---	---	---	---
POC1B	282809	broad.mit.edu	37	12	89919737	89919737	+	5'UTR	DEL	G	G	-			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr12:89919737delG	ENST00000313546.3	-	0	64				POC1B-GALNT4_ENST00000548729.1_5'UTR|GALNT4_ENST00000413530.1_Frame_Shift_Del_p.H66fs|GALNT4_ENST00000529983.2_5'Flank|POC1B_ENST00000549504.1_5'Flank|POC1B_ENST00000549035.1_5'Flank|RP11-734K2.4_ENST00000605233.1_RNA|POC1B_ENST00000393179.4_5'Flank|POC1B_ENST00000541909.1_5'UTR|POC1B-GALNT4_ENST00000547474.1_5'UTR	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B						cell proliferation (GO:0008283)|cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						gggagaggatggggaaggaga	0.701																																						ENST00000413530.1																			0											c.(196-198)atfs									3.0	4.0	4.0					12																	89919737		607	1442	2049	SO:0001623	5_prime_UTR_variant	0							g.chr12:89919737delG	AL832918	CCDS31869.1, CCDS55859.1	12q21.33	2014-05-02	2013-08-21	2010-03-26	ENSG00000139323	ENSG00000139323		"""WD repeat domain containing"""	30836	protein-coding gene	gene with protein product		614784	"""WD repeat domain 51B"", ""POC1 centriolar protein homolog B (Chlamydomonas)"""	WDR51B		19109428	Standard	NM_172240		Approved	TUWD12, FLJ14923		Q8TC44	OTTHUMG00000169944	ENST00000313546.3:c.-65C>-	12.37:g.89919737delG						POC1B_ENST00000313546.3_5'UTR|POC1B-GALNT4_ENST00000548729.1_5'UTR|POC1B_ENST00000541909.1_5'UTR|POC1B-GALNT4_ENST00000547474.1_5'UTR|RP11-734K2.4_ENST00000605233.1_RNA	p.H66fs							1	302	-								G3V1X0	Frame_Shift_Del	DEL	ENST00000313546.3	37	c.196delC	CCDS31869.1																																																																																				0.701	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406637.1	NM_172240		2	4						2	4	---	---	---	---
BTBD7	55727	broad.mit.edu	37	14	93720048	93720048	+	Frame_Shift_Del	DEL	T	T	-			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr14:93720048delT	ENST00000334746.5	-	7	2004	c.1697delA	c.(1696-1698)aatfs	p.N566fs	BTBD7_ENST00000393170.2_Frame_Shift_Del_p.N140fs|BTBD7_ENST00000554565.1_Frame_Shift_Del_p.N215fs	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	566					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GATGCCAGCATTTTTTTGCCG	0.388																																						ENST00000334746.5																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35						c.(1696-1698)atfs		BTB (POZ) domain containing 7							168.0	151.0	157.0					14																	93720048		2203	4300	6503	SO:0001589	frameshift_variant	55727							g.chr14:93720048delT	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.1697delA	14.37:g.93720048delT	ENSP00000335615:p.Asn566fs					BTBD7_ENST00000554565.1_Frame_Shift_Del_p.N215fs|BTBD7_ENST00000393170.2_Frame_Shift_Del_p.N140fs	p.N566fs	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	7	2004	-		all_cancers(154;0.08)	566					A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Frame_Shift_Del	DEL	ENST00000334746.5	37	c.1697delA	CCDS32146.1																																																																																				0.388	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860		7	193						7	193	---	---	---	---
HEXIM1	10614	broad.mit.edu	37	17	43227525	43227526	+	In_Frame_Ins	INS	-	-	GGAGCT			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr17:43227525_43227526insGGAGCT	ENST00000332499.2	+	1	2842_2843	c.968_969insGGAGCT	c.(967-972)cgggag>cgGGAGCTggag	p.328_329insLE	AC002117.1_ENST00000452741.1_RNA|AC002117.1_ENST00000589950.1_RNA	NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	328	Required for inhibition of ESR1-dependent transcription.				heart development (GO:0007507)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|snRNA binding (GO:0017069)			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCGCGTGTGCGGGAGCTGGAGC	0.668																																						ENST00000332499.2																			0				breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(967-969)cga>cGGAGCTga		hexamethylene bis-acetamide inducible 1																																				SO:0001652	inframe_insertion	10614				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding	g.chr17:43227525_43227526insGGAGCT	AB021179	CCDS11495.1	17q21.31	2006-03-28				ENSG00000186834			24953	protein-coding gene	gene with protein product		607328				12119119, 12832472	Standard	NM_006460		Approved	CLP-1, HIS1, MAQ1, EDG1	uc002iig.3	O94992		ENST00000332499.2:c.981_986dupGGAGCT	17.37:g.43227526_43227531dupGGAGCT	ENSP00000328773:p.Leu327_Glu328dup						p.323_324insS*	NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN			1	2842_2843	+			323			Required for inhibition of ESR1-dependent transcription.		B2R8Y5	In_Frame_Ins	INS	ENST00000332499.2	37	c.968_969insGGAGCT	CCDS11495.1																																																																																				0.668	HEXIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449821.2	NM_006460		17	112						17	112	---	---	---	---
CLASRP	11129	broad.mit.edu	37	19	45567373	45567375	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr19:45567373_45567375delGAG	ENST00000221455.3	+	12	1107_1109	c.1009_1011delGAG	c.(1009-1011)gagdel	p.E338del	CLASRP_ENST00000391953.4_In_Frame_Del_p.E276del|CLASRP_ENST00000544944.2_In_Frame_Del_p.E338del	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	338					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						GGGCAGCGATGAGGAGGCAGCCG	0.704																																						ENST00000544944.2																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						c.(1009-1011)del		CLK4-associating serine/arginine rich protein																																				SO:0001651	inframe_deletion	11129				mRNA processing|RNA splicing	nucleus		g.chr19:45567373_45567375delGAG	AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"""Clk4 associating SR-related protein"""		"""splicing factor, arginine/serine-rich 16"""	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.1009_1011delGAG	19.37:g.45567376_45567378delGAG	ENSP00000221455:p.Glu338del					CLASRP_ENST00000391953.4_In_Frame_Del_p.E276del|CLASRP_ENST00000221455.3_In_Frame_Del_p.E338del	p.E338del			Q8N2M8	CLASR_HUMAN			11	1701_1703	+			338					B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	In_Frame_Del	DEL	ENST00000221455.3	37	c.1009_1011delGAG	CCDS12652.2																																																																																				0.704	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316749.1	NM_007056		7	35						7	35	---	---	---	---
OR5H14	403273	broad.mit.edu	37	3	97868429	97868429	+	Frame_Shift_Del	DEL	C	C	-			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	f9a7117d-d13d-40bb-9c4f-1e0105ba1928	g.chr3:97868429delC	ENST00000437310.1	+	1	260	c.200delC	c.(199-201)gctfs	p.A67fs	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	67						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GGGAATTTAGCTTTTGTGGAT	0.398																																						ENST00000437310.1																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(199-201)gtfs		olfactory receptor, family 5, subfamily H, member 14							312.0	315.0	314.0					3																	97868429		2203	4300	6503	SO:0001589	frameshift_variant	403273				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97868429delC		CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"""GPCR / Class A : Olfactory receptors"""	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.200delC	3.37:g.97868429delC	ENSP00000401706:p.Ala67fs						p.A67fs	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN			1	260	+			67					B9EH15	Frame_Shift_Del	DEL	ENST00000437310.1	37	c.200delC	CCDS33798.1																																																																																				0.398	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1			10	296						10	296	---	---	---	---
MYO6	4646	broad.mit.edu	37	6	76599857	76599858	+	Frame_Shift_Ins	INS	-	-	A	rs551348450	byFrequency	TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	f9a7117d-d13d-40bb-9c4f-1e0105ba1928	g.chr6:76599857_76599858insA	ENST00000369977.3	+	26	2881_2882	c.2742_2743insA	c.(2743-2745)aaafs	p.K915fs	MYO6_ENST00000369985.4_Frame_Shift_Ins_p.K915fs|MYO6_ENST00000369981.3_Frame_Shift_Ins_p.K915fs|MYO6_ENST00000369975.1_Frame_Shift_Ins_p.K915fs	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	915					actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)	p.K917fs*10(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GTGCATTACAGAAAAAAAAACA	0.381													AAAAAAAAA|AAAAAAAAA|AAAAAAAAAA|insertion	18	0.00359425	0.0083	0.0014	5008	,	,		16538	0.0		0.0	False		,,,				2504	0.0061					ENST00000369981.3																			1	Deletion - Frameshift(1)	p.K917fs*10(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(2740-2745)caaaaafs		myosin VI				9,4255		0,9,2123						5.8	1.0			86	31,8223		0,31,4096	no	frameshift	MYO6	NM_004999.3		0,40,6219	A1A1,A1R,RR		0.3756,0.2111,0.3195				40,12478				SO:0001589	frameshift_variant	4646				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	g.chr6:76599857_76599858insA	U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.2751dupA	6.37:g.76599866_76599866dupA	ENSP00000358994:p.Lys915fs					MYO6_ENST00000369975.1_Frame_Shift_Ins_p.QK914fs|MYO6_ENST00000369977.3_Frame_Shift_Ins_p.QK914fs|MYO6_ENST00000369985.4_Frame_Shift_Ins_p.QK914fs	p.QK914fs			Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	26	3021_3022	+		all_hematologic(105;0.189)	914					A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Frame_Shift_Ins	INS	ENST00000369977.3	37	c.2742_2743insA	CCDS34487.1																																																																																				0.381	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999		8	93						8	93	---	---	---	---
STEAP2-AS1	100874100	broad.mit.edu	37	7	89748927	89748928	+	RNA	INS	-	-	C	rs58370593	byFrequency	TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	f9a7117d-d13d-40bb-9c4f-1e0105ba1928	g.chr7:89748927_89748928insC	ENST00000478318.2	-	0	424				DPY19L2P4_ENST00000497063.1_RNA|RP5-1121E10.2_ENST00000471553.1_lincRNA					STEAP2 antisense RNA 1																		GGTGCGGGCCTCCCCCTTCCCC	0.639													?|CCCCC|CCCCCC|unsure	3349	0.66873	0.7171	0.621	5008	,	,		14308	0.8095		0.5199	False		,,,				2504	0.6452					ENST00000478318.2																			0																																																			0							g.chr7:89748927_89748928insC			7q21.13	2012-10-12	2012-08-15		ENSG00000227646	ENSG00000227646		"""Long non-coding RNAs"""	40820	non-coding RNA	RNA, long non-coding			"""STEAP2 antisense RNA 1 (non-protein coding)"""				Standard	NR_110029		Approved				OTTHUMG00000065036		7.37:g.89748932_89748932dupC						RP5-1121E10.2_ENST00000471553.1_lincRNA|DPY19L2P4_ENST00000497063.1_RNA								0	424	-									RNA	INS	ENST00000478318.2	37																																																																																						0.639	STEAP2-AS1-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000350909.2			3	3						3	3	---	---	---	---
PCSK5	5125	broad.mit.edu	37	9	78790207	78790208	+	Intron	INS	-	-	GAATA	rs55947300|rs10124596|rs71372053	byFrequency	TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	f9a7117d-d13d-40bb-9c4f-1e0105ba1928	g.chr9:78790207_78790208insGAATA	ENST00000545128.1	+	14	2438				PCSK5_ENST00000376767.3_Frame_Shift_Ins_p.-689fs|PCSK5_ENST00000376752.4_Intron	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5						anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						cgaatcgaatcgaatagaatag	0.342																																						ENST00000376767.3																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(2062-2064)aatfs		proprotein convertase subtilisin/kexin type 5																																				SO:0001627	intron_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78790207_78790208insGAATA		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1900+162->GAATA	9.37:g.78790213_78790217dupGAATA						PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron	p.N688fs			Q92824	PCSK5_HUMAN			14	2574_2575	+			0			CRM (Cys-rich motif).		F5H2G7|Q13527|Q96EP4	Frame_Shift_Ins	INS	ENST00000545128.1	37	c.2062_2063insGAATA	CCDS55320.1																																																																																				0.342	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				2	4						2	4	---	---	---	---
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG	rs375560921|rs201773491	byFrequency	TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	f9a7117d-d13d-40bb-9c4f-1e0105ba1928	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282							Q5T6R2	TPT2L_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 1																		AGGAAGGTTCTAAAAAAAATTT	0.252														9	0.00179712	0.0008	0.0014	5008	,	,		20326	0.004		0.003	False		,,,				2504	0.0					ENST00000429698.1																			0																																																			0							g.chr13:25527490_25527491insAAAAAG			13q12.12-q12.13	2012-10-03			ENSG00000253771	ENSG00000253771			35196	pseudogene	pseudogene							Standard	NR_026730		Approved		uc010tdh.2	Q5T6R2	OTTHUMG00000016596		13.37:g.25527490_25527491insAAAAAG														0	282	-								B3KST4|B4DMH9	RNA	INS	ENST00000429698.1	37																																																																																						0.252	TPTE2P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044206.1			5	9						5	9	---	---	---	---
