#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
AIM2	9447	broad.mit.edu	37	1	159035790	159035790	+	Silent	SNP	A	A	T			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr1:159035790A>T	ENST00000368130.4	-	4	1014	c.726T>A	c.(724-726)atT>atA	p.I242I	AIM2_ENST00000411768.1_5'Flank	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	242	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to drug (GO:0035690)|cellular response to interferon-beta (GO:0035458)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein oligomerization (GO:0032461)|pyroptosis (GO:0070269)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)			breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					CTTTTCTGATAATGTTCAGCG	0.428																																						ENST00000368130.4																			0				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16						c.(724-726)atT>atA		absent in melanoma 2							110.0	105.0	107.0					1																	159035790		2203	4300	6503	SO:0001819	synonymous_variant	9447				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus		g.chr1:159035790A>T	AF024714	CCDS1181.1	1q22	2008-07-18			ENSG00000163568	ENSG00000163568			357	protein-coding gene	gene with protein product		604578				9242382	Standard	NM_004833		Approved	PYHIN4	uc001ftj.1	O14862	OTTHUMG00000037183	ENST00000368130.4:c.726T>A	1.37:g.159035790A>T							p.I242I	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN			4	1014	-	all_hematologic(112;0.0429)		242			HIN-200.		A8K7M7|Q5T3V9|Q96FG9	Silent	SNP	ENST00000368130.4	37	c.726T>A	CCDS1181.1																																																																																				0.428	AIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090341.1	NM_004833		10	58	10	58	---	---	---	---
CEP350	9857	broad.mit.edu	37	1	179966074	179966074	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr1:179966074C>A	ENST00000367607.3	+	6	1200	c.782C>A	c.(781-783)tCt>tAt	p.S261Y		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	261					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TCTCCATCCTCTACTAGTACT	0.378																																						ENST00000367607.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(781-783)tCt>tAt		centrosomal protein 350kDa							114.0	116.0	115.0					1																	179966074		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:179966074C>A	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.782C>A	1.37:g.179966074C>A	ENSP00000356579:p.Ser261Tyr						p.S261Y	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN			6	1200	+			261					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.782C>A	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.812727	0.90707	.	.	ENSG00000135837	ENST00000367607;ENST00000491495	T;T	0.21361	2.01;2.01	5.39	5.39	0.77823	.	0.000000	0.47455	D	0.000236	T	0.37100	0.0991	L	0.32530	0.975	0.51482	D	0.999927	D;D;D	0.89917	0.998;0.997;1.0	D;P;D	0.91635	0.991;0.876;0.999	T	0.03231	-1.1058	9	.	.	.	.	18.7147	0.91671	0.0:1.0:0.0:0.0	.	261;261;235	E7EU22;Q5VT06;E9PIK0	.;CE350_HUMAN;.	Y	261;235	ENSP00000356579:S261Y;ENSP00000435808:S235Y	.	S	+	2	0	CEP350	178232697	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	6.646000	0.74348	2.523000	0.85059	0.446000	0.29264	TCT		0.378	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		4	45	4	45	---	---	---	---
CCDC185	164127	broad.mit.edu	37	1	223566906	223566906	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr1:223566906G>A	ENST00000366875.3	+	1	192	c.89G>A	c.(88-90)cGg>cAg	p.R30Q		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		30										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		TCCACGCAGCGGCTGGGCGGG	0.736																																						ENST00000366875.3																			0				breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29						c.(88-90)cGg>cAg		chromosome 1 open reading frame 65							6.0	8.0	7.0					1																	223566906		1905	3874	5779	SO:0001583	missense	164127							g.chr1:223566906G>A																												ENST00000366875.3:c.89G>A	1.37:g.223566906G>A	ENSP00000355840:p.Arg30Gln						p.R30Q	NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN		GBM - Glioblastoma multiforme(131;0.0704)	1	192	+			30					Q8N746|Q8NA93	Missense_Mutation	SNP	ENST00000366875.3	37	c.89G>A	CCDS1537.1	.	.	.	.	.	.	.	.	.	.	G	7.416	0.635725	0.14322	.	.	ENSG00000178395	ENST00000366875	T	0.18338	2.22	3.53	-5.78	0.02362	.	.	.	.	.	T	0.04588	0.0125	N	0.04880	-0.145	0.09310	N	1	B	0.23490	0.086	B	0.12837	0.008	T	0.39800	-0.9596	9	0.13108	T	0.6	.	0.689	0.00888	0.4195:0.1366:0.1682:0.2757	.	30	Q8N715	CA065_HUMAN	Q	30	ENSP00000355840:R30Q	ENSP00000355840:R30Q	R	+	2	0	C1orf65	221633529	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.534000	0.06150	-0.871000	0.04042	-1.114000	0.02060	CGG		0.736	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092718.1			4	10	4	10	---	---	---	---
SNRNP200	23020	broad.mit.edu	37	2	96955019	96955019	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr2:96955019C>A	ENST00000323853.5	-	22	3116	c.3039G>T	c.(3037-3039)gaG>gaT	p.E1013D	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1013	SEC63 1.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CCCTGAAAAGCTCAATCTCAC	0.517																																						ENST00000323853.5																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						c.(3037-3039)gaG>gaT		small nuclear ribonucleoprotein 200kDa (U5)							112.0	108.0	109.0					2																	96955019		2203	4300	6503	SO:0001583	missense	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96955019C>A	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.3039G>T	2.37:g.96955019C>A	ENSP00000317123:p.Glu1013Asp					SNRNP200_ENST00000349783.5_Intron	p.E1013D	NM_014014.4	NP_054733.2	O75643	U520_HUMAN			22	3116	-			1013			SEC63 1.		O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	c.3039G>T	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.516442	0.27123	.	.	ENSG00000144028	ENST00000323853;ENST00000540328	T	0.58060	0.36	6.03	4.18	0.49190	Sec63 domain (3);	0.000000	0.85682	D	0.000000	T	0.33469	0.0864	N	0.17564	0.495	0.80722	D	1	B	0.11235	0.004	B	0.18871	0.023	T	0.08249	-1.0731	10	0.35671	T	0.21	-24.5305	7.3167	0.26505	0.0:0.6604:0.0:0.3396	.	1013	O75643	U520_HUMAN	D	1013;688	ENSP00000317123:E1013D	ENSP00000317123:E1013D	E	-	3	2	SNRNP200	96318746	0.978000	0.34361	0.998000	0.56505	0.309000	0.27889	0.258000	0.18387	0.825000	0.34637	-0.136000	0.14681	GAG		0.517	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		4	40	4	40	---	---	---	---
ROBO2	6092	broad.mit.edu	37	3	77693942	77693942	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr3:77693942C>G	ENST00000461745.1	+	25	4922	c.4022C>G	c.(4021-4023)aCt>aGt	p.T1341S	ROBO2_ENST00000487694.3_Missense_Mutation_p.T1357S|ROBO2_ENST00000332191.8_Missense_Mutation_p.T1402S	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1341					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AAGGGATCCACTGGACCTAGG	0.517																																						ENST00000461745.1																			0				NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(4021-4023)aCt>aGt		roundabout, axon guidance receptor, homolog 2 (Drosophila)							89.0	91.0	90.0					3																	77693942		2026	4174	6200	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77693942C>G	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.4022C>G	3.37:g.77693942C>G	ENSP00000417164:p.Thr1341Ser					ROBO2_ENST00000487694.3_Missense_Mutation_p.T1357S|ROBO2_ENST00000332191.8_Missense_Mutation_p.T1402S	p.T1341S	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	25	4922	+			1341					O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.4022C>G	CCDS43109.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.7|20.7	4.038701|4.038701	0.75617|0.75617	.|.	.|.	ENSG00000185008|ENSG00000185008	ENST00000475334;ENST00000490534|ENST00000487694;ENST00000403211;ENST00000461745;ENST00000332191	.|T;T;T	.|0.65916	.|-0.18;-0.15;-0.11	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	.|0.000000	.|0.47455	.|D	.|0.000240	T|T	0.63954|0.63954	0.2555|0.2555	N|N	0.08118|0.08118	0|0	.|0.31090	.|N	.|0.710863	.|D;D;D	.|0.67145	.|0.993;0.996;0.993	.|D;D;D	.|0.73380	.|0.956;0.98;0.956	T|T	0.65553|0.65553	-0.6140|-0.6140	4|9	.|0.29301	.|T	.|0.29	.|.	20.168|20.168	0.98156|0.98156	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1357;1402;1341	.|Q19AB5;F8W703;Q9HCK4	.|.;.;ROBO2_HUMAN	Q|S	172;160|1357;1357;1341;1402	.|ENSP00000417335:T1357S;ENSP00000417164:T1341S;ENSP00000327536:T1402S	.|ENSP00000327536:T1402S	H|T	+|+	3|2	2|0	ROBO2|ROBO2	77776632|77776632	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.374000|0.374000	0.29953|0.29953	7.251000|7.251000	0.78297|0.78297	2.775000|2.775000	0.95449|0.95449	0.655000|0.655000	0.94253|0.94253	CAC|ACT		0.517	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		5	62	5	62	---	---	---	---
GP5	2814	broad.mit.edu	37	3	194118889	194118889	+	Silent	SNP	C	C	T			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr3:194118889C>T	ENST00000401815.1	-	1	194	c.123G>A	c.(121-123)gcG>gcA	p.A41A	GP5_ENST00000323007.3_Silent_p.A41A			P40197	GPV_HUMAN	glycoprotein V (platelet)	41	LRRNT.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|negative regulation of platelet activation (GO:0010544)|platelet activation (GO:0030168)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		CGGAGATGCGCGCCACGTCGC	0.706																																						ENST00000401815.1																			0				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35						c.(121-123)gcG>gcA		glycoprotein V (platelet)							29.0	30.0	30.0					3																	194118889		2190	4286	6476	SO:0001819	synonymous_variant	2814				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane		g.chr3:194118889C>T	L11238	CCDS3307.1	3q29	2008-02-01			ENSG00000178732	ENSG00000178732		"""CD molecules"""	4443	protein-coding gene	gene with protein product		173511				7690959	Standard	NM_004488		Approved	CD42d	uc003ftv.1	P40197	OTTHUMG00000150345	ENST00000401815.1:c.123G>A	3.37:g.194118889C>T						GP5_ENST00000323007.3_Silent_p.A41A	p.A41A			P40197	GPV_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)	1	194	-	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	41			LRRNT.		D1MER9	Silent	SNP	ENST00000401815.1	37	c.123G>A	CCDS3307.1																																																																																				0.706	GP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317710.1	NM_004488		13	28	13	28	---	---	---	---
RCHY1	25898	broad.mit.edu	37	4	76417113	76417113	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr4:76417113G>T	ENST00000324439.5	-	5	834	c.436C>A	c.(436-438)Cca>Aca	p.P146T	RCHY1_ENST00000451788.1_Missense_Mutation_p.P146T|RCHY1_ENST00000514021.1_5'Flank|RCHY1_ENST00000512706.1_Missense_Mutation_p.P124T|RCHY1_ENST00000513257.1_Missense_Mutation_p.P146T|RCHY1_ENST00000380840.2_Missense_Mutation_p.P106T	NM_001278536.1|NM_001278538.1|NM_001278539.1	NP_001265465.1|NP_001265467.1|NP_001265468.1	Q96PM5	ZN363_HUMAN	ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase	146					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(2)|pancreas(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AAACATATTGGACAATTCTGT	0.284																																						ENST00000324439.5																			0				large_intestine(2)|pancreas(1)	3						c.(436-438)Cca>Aca		ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase							55.0	58.0	57.0					4																	76417113		2198	4291	6489	SO:0001583	missense	25898				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nuclear speck|ubiquitin ligase complex	electron carrier activity|p53 binding|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr4:76417113G>T	AF255666	CCDS3567.1, CCDS34012.1, CCDS63990.1, CCDS63991.1, CCDS63992.1	4q21.1-q21.3	2014-02-17	2012-02-23	2004-03-30	ENSG00000163743	ENSG00000163743		"""RING-type (C3HC4) zinc fingers"""	17479	protein-coding gene	gene with protein product	"""androgen-receptor N-terminal-interacting protein"", ""p53-induced protein with a RING-H2 domain"", ""zinc finger, CHY-type"""	607680	"""zinc finger protein 363"", ""ring finger and CHY zinc finger domain containing 1"""	ZNF363		12654245	Standard	NM_015436		Approved	CHIMP, DKFZp586C1620, PRO1996, RNF199, ARNIP, PIRH2, ZCHY	uc003hik.3	Q96PM5	OTTHUMG00000130105	ENST00000324439.5:c.436C>A	4.37:g.76417113G>T	ENSP00000321239:p.Pro146Thr					RCHY1_ENST00000513257.1_Missense_Mutation_p.P146T|RCHY1_ENST00000380840.2_Missense_Mutation_p.P106T|RCHY1_ENST00000451788.1_Missense_Mutation_p.P146T|RCHY1_ENST00000512706.1_Missense_Mutation_p.P124T	p.P146T	NM_001278536.1|NM_001278538.1|NM_001278539.1	NP_001265465.1|NP_001265467.1|NP_001265468.1	Q96PM5	ZN363_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		5	834	-			146					B3KRG3|C7E541|C7E542|C7E543|D3YRV2|E7EMC8|E7ETW5|J3KPI0|Q2KN33|Q59GN7|Q86X26|Q96PR5	Missense_Mutation	SNP	ENST00000324439.5	37	c.436C>A	CCDS3567.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.959368	0.74016	.	.	ENSG00000163743	ENST00000324439;ENST00000451788;ENST00000380840;ENST00000512706;ENST00000513257;ENST00000507014	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	4.34	4.34	0.51931	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.63885	0.2549	M	0.75777	2.31	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;1.0;1.0	T	0.69045	-0.5249	10	0.87932	D	0	-10.7004	14.3909	0.66978	0.0:0.0:1.0:0.0	.	106;146;124;146;146;146	E7EMC8;Q2KN33;E7ETW5;Q96PM5-2;Q96PM5;G3FDP4	.;.;.;.;ZN363_HUMAN;.	T	146;146;106;124;146;106	ENSP00000321239:P146T;ENSP00000401041:P146T;ENSP00000370220:P106T;ENSP00000423976:P124T	ENSP00000321239:P146T	P	-	1	0	RCHY1	76636137	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.464000	0.73534	2.246000	0.74042	0.460000	0.39030	CCA		0.284	RCHY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252411.2	NM_015436		12	35	12	35	---	---	---	---
NPY1R	4886	broad.mit.edu	37	4	164247226	164247226	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr4:164247226C>A	ENST00000296533.2	-	2	1012	c.481G>T	c.(481-483)Gtg>Ttg	p.V161L	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	161					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose metabolic process (GO:0006006)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|regulation of blood pressure (GO:0008217)|regulation of multicellular organism growth (GO:0040014)|sensory perception of pain (GO:0019233)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ACCCAAATCACAGCAATACCT	0.433																																						ENST00000296533.2																			0				breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30						c.(481-483)Gtg>Ttg		neuropeptide Y receptor Y1							137.0	126.0	130.0					4																	164247226		2203	4300	6503	SO:0001583	missense	4886				inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	g.chr4:164247226C>A		CCDS34089.1	4q31.3-q32	2012-08-08				ENSG00000164128		"""GPCR / Class A : Neuropeptide receptors : Y"""	7956	protein-coding gene	gene with protein product		162641		NPYR		8095935	Standard	NM_000909		Approved		uc003iqm.2	P25929		ENST00000296533.2:c.481G>T	4.37:g.164247226C>A	ENSP00000354652:p.Val161Leu					NPY1R_ENST00000509586.1_Intron	p.V161L	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN			2	1012	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	161					B2R6H5	Missense_Mutation	SNP	ENST00000296533.2	37	c.481G>T	CCDS34089.1	.	.	.	.	.	.	.	.	.	.	C	4.347	0.063799	0.08388	.	.	ENSG00000164128	ENST00000296533	T	0.36340	1.26	5.84	4.03	0.46877	GPCR, rhodopsin-like superfamily (1);	0.362803	0.25161	N	0.032672	T	0.14442	0.0349	N	0.02391	-0.57	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.08597	-1.0714	10	0.08599	T	0.76	.	13.2854	0.60241	0.0:0.8093:0.123:0.0677	.	161	P25929	NPY1R_HUMAN	L	161	ENSP00000354652:V161L	ENSP00000354652:V161L	V	-	1	0	NPY1R	164466676	0.987000	0.35691	0.998000	0.56505	0.961000	0.63080	1.180000	0.32005	1.487000	0.48415	0.655000	0.94253	GTG		0.433	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364685.1			13	25	13	25	---	---	---	---
CDX1	1044	broad.mit.edu	37	5	149562382	149562382	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr5:149562382G>T	ENST00000231656.8	+	2	579	c.497G>T	c.(496-498)cGc>cTc	p.R166L		NM_001804.2	NP_001795.2	P47902	CDX1_HUMAN	caudal type homeobox 1	166					anterior/posterior pattern specification (GO:0009952)|bone morphogenesis (GO:0060349)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			central_nervous_system(1)|kidney(2)|lung(1)|ovary(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GACCACCAACGCCTGGAGCTG	0.567																																						ENST00000231656.8																			0				central_nervous_system(1)|kidney(2)|lung(1)|ovary(1)	5						c.(496-498)cGc>cTc		caudal type homeobox 1							151.0	151.0	151.0					5																	149562382		2203	4300	6503	SO:0001583	missense	1044					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:149562382G>T	U51095	CCDS4304.1	5q32	2012-03-09	2007-07-09		ENSG00000113722	ENSG00000113722		"""Homeoboxes / ANTP class : HOXL subclass"""	1805	protein-coding gene	gene with protein product		600746	"""caudal type homeo box transcription factor 1"""			8530027	Standard	NM_001804		Approved		uc003lrq.3	P47902	OTTHUMG00000169772	ENST00000231656.8:c.497G>T	5.37:g.149562382G>T	ENSP00000231656:p.Arg166Leu						p.R166L	NM_001804.2	NP_001795.2	P47902	CDX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	579	+		all_hematologic(541;0.224)	166					Q4VAU4|Q9NYK8	Missense_Mutation	SNP	ENST00000231656.8	37	c.497G>T	CCDS4304.1	.	.	.	.	.	.	.	.	.	.	G	36	5.702800	0.96812	.	.	ENSG00000113722	ENST00000231656;ENST00000377812	D	0.94687	-3.49	5.87	5.87	0.94306	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.122961	0.56097	D	0.000032	D	0.93700	0.7987	N	0.04260	-0.245	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.95546	0.8616	10	0.72032	D	0.01	-13.975	20.2079	0.98282	0.0:0.0:1.0:0.0	.	166	P47902	CDX1_HUMAN	L	166;55	ENSP00000231656:R166L	ENSP00000231656:R166L	R	+	2	0	CDX1	149542575	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.787000	0.99055	2.781000	0.95711	0.655000	0.94253	CGC		0.567	CDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252328.7	NM_001804		58	127	58	127	---	---	---	---
HIST1H2AI	8329	broad.mit.edu	37	6	27776019	27776019	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr6:27776019C>T	ENST00000358739.3	+	1	121	c.32C>T	c.(31-33)gCt>gTt	p.A11V	HIST1H3H_ENST00000369163.2_5'Flank|HIST1H2BL_ENST00000377401.2_5'Flank	NM_003509.2	NP_003500.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ai	11						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			lung(3)	3						GGAGGCAAAGCTCGCGCCAAG	0.547																																						ENST00000358739.3																			0				lung(3)	3						c.(31-33)gCt>gTt		histone cluster 1, H2ai							60.0	70.0	67.0					6																	27776019		2201	4300	6501	SO:0001583	missense	8329							g.chr6:27776019C>T	Z83742	CCDS4626.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000196747	ENSG00000196747		"""Histones / Replication-dependent"""	4725	protein-coding gene	gene with protein product		602787	"""H2A histone family, member C"", ""histone 1, H2ai"""	H2AFC		9439656, 12408966	Standard	NM_003509		Approved	H2A/c		P0C0S8	OTTHUMG00000014484	ENST00000358739.3:c.32C>T	6.37:g.27776019C>T	ENSP00000351589:p.Ala11Val						p.A11V	NM_003509.2	NP_003500.1					1	121	+								P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	ENST00000358739.3	37	c.32C>T	CCDS4626.1	.	.	.	.	.	.	.	.	.	.	.	13.48	2.251025	0.39797	.	.	ENSG00000196747	ENST00000358739	T	0.48522	0.81	4.34	4.34	0.51931	.	0.000000	0.39909	N	0.001232	T	0.40094	0.1103	.	.	.	0.35104	D	0.765483	.	.	.	.	.	.	T	0.37033	-0.9723	7	0.40728	T	0.16	.	10.4839	0.44711	0.0:0.908:0.0:0.092	.	.	.	.	V	11	ENSP00000351589:A11V	ENSP00000351589:A11V	A	+	2	0	HIST1H2AI	27883998	0.882000	0.30256	1.000000	0.80357	0.384000	0.30261	1.741000	0.38238	2.351000	0.79841	0.549000	0.68633	GCT		0.547	HIST1H2AI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040152.1	NM_003509		19	82	19	82	---	---	---	---
HSP90AB1	3326	broad.mit.edu	37	6	44219539	44219539	+	Silent	SNP	C	C	A			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr6:44219539C>A	ENST00000371554.1	+	9	1594	c.1380C>A	c.(1378-1380)tcC>tcA	p.S460S	HSP90AB1_ENST00000353801.3_Silent_p.S460S|MIR4647_ENST00000583964.1_RNA|HSP90AB1_ENST00000371646.5_Silent_p.S460S|SLC35B2_ENST00000495706.1_5'Flank			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	460					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ATCATACCTCCCAGTCTGGAG	0.498																																						ENST00000371554.1																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33						c.(1378-1380)tcC>tcA		heat shock protein 90kDa alpha (cytosolic), class B member 1							109.0	109.0	109.0					6																	44219539		2203	4300	6503	SO:0001819	synonymous_variant	3326				axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding	g.chr6:44219539C>A	AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"""Heat shock proteins / HSPC"""	5258	protein-coding gene	gene with protein product		140572	"""heat shock 90kD protein 1, beta"", ""heat shock 90kDa protein 1, beta"""	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.1380C>A	6.37:g.44219539C>A						HSP90AB1_ENST00000371646.5_Silent_p.S460S|HSP90AB1_ENST00000353801.3_Silent_p.S460S	p.S460S			P08238	HS90B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		9	1594	+	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		460					B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Silent	SNP	ENST00000371554.1	37	c.1380C>A	CCDS4909.1	.	.	.	.	.	.	.	.	.	.	C	10.12	1.264049	0.23136	.	.	ENSG00000096384	ENST00000435812;ENST00000415133;ENST00000428822	.	.	.	4.77	0.118	0.14667	.	.	.	.	.	T	0.39655	0.1086	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30851	-0.9964	4	.	.	.	-12.7598	7.7282	0.28771	0.0:0.4007:0.0:0.5992	.	.	.	.	H	86	.	.	P	+	2	0	HSP90AB1	44327517	0.945000	0.32115	0.998000	0.56505	0.970000	0.65996	0.032000	0.13732	0.098000	0.17522	0.603000	0.83216	CCC		0.498	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355		4	73	4	73	---	---	---	---
CDC5L	988	broad.mit.edu	37	6	44371735	44371735	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr6:44371735A>T	ENST00000371477.3	+	6	1028	c.729A>T	c.(727-729)agA>agT	p.R243S		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	243	Nuclear localization signal. {ECO:0000255}.				cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGAAATTAAGACAACAGGATC	0.398																																						ENST00000371477.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29						c.(727-729)agA>agT		cell division cycle 5-like							63.0	65.0	64.0					6																	44371735		2203	4300	6503	SO:0001583	missense	988				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding	g.chr6:44371735A>T	D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"""CDC5 (cell division cycle 5, S. pombe, homolog)-like"", ""CDC5 cell division cycle 5-like (S. pombe)"""			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.729A>T	6.37:g.44371735A>T	ENSP00000360532:p.Arg243Ser						p.R243S	NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		6	1028	+	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		243					Q76N46|Q99974	Missense_Mutation	SNP	ENST00000371477.3	37	c.729A>T	CCDS4912.1	.	.	.	.	.	.	.	.	.	.	A	15.18	2.755782	0.49362	.	.	ENSG00000096401	ENST00000371477	T	0.45668	0.89	6.04	2.06	0.26882	.	0.000000	0.85682	D	0.000000	T	0.10809	0.0264	L	0.41356	1.27	0.80722	D	1	B	0.29988	0.264	B	0.24974	0.057	T	0.10730	-1.0617	10	0.25751	T	0.34	-19.5698	1.1329	0.01749	0.4341:0.2203:0.2187:0.1268	.	243	Q99459	CDC5L_HUMAN	S	243	ENSP00000360532:R243S	ENSP00000360532:R243S	R	+	3	2	CDC5L	44479713	0.905000	0.30787	1.000000	0.80357	0.997000	0.91878	-0.014000	0.12656	0.493000	0.27837	0.460000	0.39030	AGA		0.398	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040743.1			16	32	16	32	---	---	---	---
CARD11	84433	broad.mit.edu	37	7	2984130	2984130	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr7:2984130C>T	ENST00000396946.4	-	5	803	c.400G>A	c.(400-402)Gag>Aag	p.E134K	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	134			E -> G (in PPBL; results in protein aggregation and constitutive NFKB activation). {ECO:0000269|PubMed:23129749}.		Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TTGATGACCTCGTTCATCAGG	0.602			Mis		DLBCL																																	ENST00000396946.4				Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		0				NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.(400-402)Gag>Aag		caspase recruitment domain family, member 11							78.0	72.0	74.0					7																	2984130		2203	4300	6503	SO:0001583	missense	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2984130C>T	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.400G>A	7.37:g.2984130C>T	ENSP00000380150:p.Glu134Lys					AC004906.3_ENST00000423194.1_RNA	p.E134K	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	5	803	-		Ovarian(82;0.0115)	134					A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.400G>A	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	C	34	5.293420	0.95546	.	.	ENSG00000198286	ENST00000396946	T	0.45668	0.89	4.24	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.64057	0.2564	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.69691	-0.5077	10	0.66056	D	0.02	-31.5717	17.0013	0.86382	0.0:1.0:0.0:0.0	.	134	Q9BXL7	CAR11_HUMAN	K	134	ENSP00000380150:E134K	ENSP00000380150:E134K	E	-	1	0	CARD11	2950656	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.273000	0.78527	2.071000	0.62044	0.655000	0.94253	GAG		0.602	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		12	39	12	39	---	---	---	---
DNAJB5	25822	broad.mit.edu	37	9	34997172	34997172	+	Silent	SNP	C	C	T			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr9:34997172C>T	ENST00000541010.1	+	3	3975	c.963C>T	c.(961-963)ctC>ctT	p.L321L	DNAJB5_ENST00000453597.3_Silent_p.L435L|DNAJB5_ENST00000312316.5_Silent_p.L321L|DNAJB5_ENST00000335998.3_Silent_p.L355L|DNAJB5_ENST00000454002.2_Silent_p.L393L|DNAJB5_ENST00000545841.1_Silent_p.L321L			O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	321					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			GAGGAGACCTCATTGTTGAGT	0.547																																						ENST00000541010.1																			0				kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(961-963)ctC>ctT		DnaJ (Hsp40) homolog, subfamily B, member 5							135.0	132.0	133.0					9																	34997172		2203	4300	6503	SO:0001819	synonymous_variant	25822				protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding	g.chr9:34997172C>T	AF088982	CCDS35007.1, CCDS47959.1, CCDS47960.1, CCDS47960.2	9p	2011-09-02			ENSG00000137094	ENSG00000137094		"""Heat shock proteins / DNAJ (HSP40)"""	14887	protein-coding gene	gene with protein product		611328				10570961, 11147971	Standard	NM_001135004		Approved	Hsc40	uc003zvs.4	O75953	OTTHUMG00000019840	ENST00000541010.1:c.963C>T	9.37:g.34997172C>T						DNAJB5_ENST00000453597.3_Silent_p.L435L|DNAJB5_ENST00000312316.5_Silent_p.L321L|DNAJB5_ENST00000545841.1_Silent_p.L321L|DNAJB5_ENST00000335998.3_Silent_p.L355L|DNAJB5_ENST00000454002.2_Silent_p.L393L	p.L321L			O75953	DNJB5_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00575)		3	3975	+			321					B3KN14|B4DSA6|J3KQM9|J3KR08|Q5T656|Q8TDR7|Q96EM4	Silent	SNP	ENST00000541010.1	37	c.963C>T	CCDS35007.1																																																																																				0.547	DNAJB5-008	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401397.1			33	54	33	54	---	---	---	---
JAKMIP3	282973	broad.mit.edu	37	10	133949433	133949433	+	Splice_Site	SNP	G	G	T			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr10:133949433G>T	ENST00000298622.4	+	5	1107		c.e5-1			NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3							Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TTGTCTTTCAGTTGAAGCGCG	0.507																																						ENST00000298622.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31						c.e5-1		Janus kinase and microtubule interacting protein 3							55.0	61.0	59.0					10																	133949433		2022	4173	6195	SO:0001630	splice_region_variant	282973							g.chr10:133949433G>T	AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"""neuroendocrine long coiled-coil 2"""	611198	"""chromosome 10 open reading frame 39"", ""chromosome 10 open reading frame 14"""	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.970-1G>T	10.37:g.133949433G>T								NM_001105521.2	NP_001098991.1				OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)	5	1107	+		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)						A6PW00|Q69YM6|Q6ZT29	Splice_Site	SNP	ENST00000298622.4	37		CCDS44494.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.741026	0.49151	.	.	ENSG00000188385	ENST00000298622	.	.	.	4.24	4.24	0.50183	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8328	0.85949	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	JAKMIP3	133799423	1.000000	0.71417	0.983000	0.44433	0.307000	0.27823	9.087000	0.94110	2.210000	0.71456	0.650000	0.86243	.		0.507	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303	Intron	3	12	3	12	---	---	---	---
IL10RA	3587	broad.mit.edu	37	11	117864087	117864087	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr11:117864087T>C	ENST00000227752.3	+	4	619	c.499T>C	c.(499-501)Tat>Cat	p.Y167H	IL10RA_ENST00000545409.1_Missense_Mutation_p.Y18H|IL10RA_ENST00000541785.1_Missense_Mutation_p.Y147H|IL10RA_ENST00000533700.1_3'UTR	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	167					cytokine-mediated signaling pathway (GO:0019221)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-10 receptor activity (GO:0004920)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		CTTCCGAGAGTATGAGATTGC	0.567																																						ENST00000227752.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19						c.(499-501)Tat>Cat		interleukin 10 receptor, alpha							91.0	81.0	84.0					11																	117864087		2200	4296	6496	SO:0001583	missense	3587					integral to membrane|plasma membrane	interleukin-10 receptor activity	g.chr11:117864087T>C	U00672	CCDS8388.1	11q23	2014-09-17			ENSG00000110324	ENSG00000110324		"""Interleukins and interleukin receptors"", ""CD molecules"""	5964	protein-coding gene	gene with protein product		146933		IL10R		8120391	Standard	NR_026691		Approved	HIL-10R, CDW210A, CD210a, CD210	uc001prv.3	Q13651	OTTHUMG00000166523	ENST00000227752.3:c.499T>C	11.37:g.117864087T>C	ENSP00000227752:p.Tyr167His					IL10RA_ENST00000545409.1_Missense_Mutation_p.Y18H|IL10RA_ENST00000541785.1_Missense_Mutation_p.Y147H|IL10RA_ENST00000533700.1_3'UTR	p.Y167H	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)	4	619	+	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	167					A8K6I0|B0YJ27	Missense_Mutation	SNP	ENST00000227752.3	37	c.499T>C	CCDS8388.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.299383	0.81136	.	.	ENSG00000110324	ENST00000227752;ENST00000541785;ENST00000545409;ENST00000536858	T;T;T	0.61158	0.13;0.13;0.13	5.73	5.73	0.89815	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.277263	0.36591	N	0.002518	T	0.73830	0.3637	M	0.71581	2.175	0.34192	D	0.672172	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82950	-0.0203	10	0.72032	D	0.01	-18.2164	12.4071	0.55445	0.0:0.0:0.0:1.0	.	147;167	F5GYV8;Q13651	.;I10R1_HUMAN	H	167;147;18;147	ENSP00000227752:Y167H;ENSP00000441397:Y147H;ENSP00000443019:Y18H	ENSP00000227752:Y167H	Y	+	1	0	IL10RA	117369297	1.000000	0.71417	0.386000	0.26170	0.991000	0.79684	3.633000	0.54295	2.180000	0.69256	0.533000	0.62120	TAT		0.567	IL10RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390167.1			3	55	3	55	---	---	---	---
STK38L	23012	broad.mit.edu	37	12	27467471	27467471	+	Silent	SNP	C	C	A			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr12:27467471C>A	ENST00000389032.3	+	7	721	c.552C>A	c.(550-552)acC>acA	p.T184T	STK38L_ENST00000539577.1_Silent_p.T91T	NM_015000.3	NP_055815.1			serine/threonine kinase 38 like											breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					AGAAAGACACCTTGACAGAAG	0.378																																						ENST00000389032.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						c.(550-552)acC>acA		serine/threonine kinase 38 like							111.0	101.0	104.0					12																	27467471		2203	4300	6503	SO:0001819	synonymous_variant	23012				intracellular protein kinase cascade|regulation of cellular component organization	actin cytoskeleton|cytoplasm	actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr12:27467471C>A	AB023182	CCDS31761.1	12p11.23	2014-04-23			ENSG00000211455	ENSG00000211455			17848	protein-coding gene	gene with protein product	"""nuclear Dbf2-related 2"""	615836				16488889	Standard	NM_015000		Approved	KIAA0965, NDR2	uc001rhr.3	Q9Y2H1	OTTHUMG00000169284	ENST00000389032.3:c.552C>A	12.37:g.27467471C>A						STK38L_ENST00000539577.1_Silent_p.T91T	p.T184T	NM_015000.3	NP_055815.1	Q9Y2H1	ST38L_HUMAN			7	721	+	Colorectal(261;0.0847)		184			Protein kinase.			Silent	SNP	ENST00000389032.3	37	c.552C>A	CCDS31761.1																																																																																				0.378	STK38L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403297.1	NM_015000		3	33	3	33	---	---	---	---
PLBD2	196463	broad.mit.edu	37	12	113821961	113821961	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr12:113821961G>T	ENST00000280800.3	+	7	1040	c.1009G>T	c.(1009-1011)Gtg>Ttg	p.V337L	PLBD2_ENST00000545182.2_Missense_Mutation_p.V337L	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	337					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						GTGGAAGTATGTGCGGCCCAG	0.617																																						ENST00000280800.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						c.(1009-1011)Gtg>Ttg		phospholipase B domain containing 2							75.0	66.0	69.0					12																	113821961		2203	4300	6503	SO:0001583	missense	196463				lipid catabolic process	lysosomal lumen	hydrolase activity	g.chr12:113821961G>T	BC030618	CCDS9168.1, CCDS53834.1	12q24.13	2013-10-11				ENSG00000151176			27283	protein-coding gene	gene with protein product	"""PLB homolog 2 (Dictyostelium)"", ""mannose-6-phosphate protein associated protein p76"""					17105447, 15193148, 19019078	Standard	NM_001159727		Approved	p76	uc001tve.2	Q8NHP8	OTTHUMG00000169567	ENST00000280800.3:c.1009G>T	12.37:g.113821961G>T	ENSP00000280800:p.Val337Leu					PLBD2_ENST00000545182.2_Missense_Mutation_p.V337L	p.V337L	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN			7	1040	+			337					F5H5E2	Missense_Mutation	SNP	ENST00000280800.3	37	c.1009G>T	CCDS9168.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.761502	0.49468	.	.	ENSG00000151176	ENST00000545182;ENST00000280800	T;T	0.18657	2.2;2.2	4.84	4.84	0.62591	.	0.070231	0.56097	D	0.000025	T	0.21962	0.0529	M	0.62266	1.93	0.40584	D	0.981423	P;B	0.35821	0.523;0.231	B;B	0.38378	0.272;0.267	T	0.07501	-1.0769	10	0.52906	T	0.07	-31.3692	5.5829	0.17260	0.1712:0.1865:0.6423:0.0	.	337;337	F5H5E2;Q8NHP8	.;PLBL2_HUMAN	L	337	ENSP00000443463:V337L;ENSP00000280800:V337L	ENSP00000280800:V337L	V	+	1	0	PLBD2	112306344	1.000000	0.71417	0.999000	0.59377	0.646000	0.38490	5.134000	0.64770	2.217000	0.71921	0.305000	0.20034	GTG		0.617	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404835.1	NM_173542		3	54	3	54	---	---	---	---
TUBA3C	7278	broad.mit.edu	37	13	19748253	19748253	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr13:19748253A>T	ENST00000400113.3	-	5	1207	c.1103T>A	c.(1102-1104)cTg>cAg	p.L368Q		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	368					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CACCTTGGCCAGGTCTCCCCC	0.582																																						ENST00000400113.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72						c.(1102-1104)cTg>cAg		tubulin, alpha 3c							58.0	56.0	57.0					13																	19748253		2203	4300	6503	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19748253A>T	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.1103T>A	13.37:g.19748253A>T	ENSP00000382982:p.Leu368Gln						p.L368Q	NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	5	1207	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	368					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.1103T>A	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	a	11.73	1.725571	0.30593	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	D	0.85484	-1.99	1.22	1.22	0.21188	.	0.000000	0.38605	U	0.001636	D	0.85864	0.5796	.	.	.	0.45108	D	0.99812	.	.	.	.	.	.	D	0.84239	0.0471	7	0.87932	D	0	.	6.5693	0.22529	1.0:0.0:0.0:0.0	.	.	.	.	Q	368	ENSP00000382982:L368Q	ENSP00000354037:L368Q	L	-	2	0	TUBA3C	18646253	1.000000	0.71417	0.999000	0.59377	0.670000	0.39368	7.534000	0.82004	0.813000	0.34350	0.163000	0.16589	CTG		0.582	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		16	53	16	53	---	---	---	---
COL4A2	1284	broad.mit.edu	37	13	111145626	111145626	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr13:111145626C>A	ENST00000360467.5	+	39	3937	c.3631C>A	c.(3631-3633)Cca>Aca	p.P1211T		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1211	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TCCAGGATCCCCAGGTACTCT	0.612																																						ENST00000360467.5																			0				NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(3631-3633)Cca>Aca		collagen, type IV, alpha 2							42.0	50.0	47.0					13																	111145626		1991	4162	6153	SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111145626C>A	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.3631C>A	13.37:g.111145626C>A	ENSP00000353654:p.Pro1211Thr						p.P1211T	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		39	3937	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	1211			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.3631C>A	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.853347	0.51270	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.93076	-3.16	5.28	5.28	0.74379	.	0.000000	0.56097	D	0.000038	D	0.95887	0.8661	M	0.66939	2.045	0.54753	D	0.999981	D	0.89917	1.0	D	0.97110	1.0	D	0.94970	0.8116	10	0.35671	T	0.21	.	15.8396	0.78835	0.0:1.0:0.0:0.0	.	1211	P08572	CO4A2_HUMAN	T	1211	ENSP00000353654:P1211T	ENSP00000257309:P1211T	P	+	1	0	COL4A2	109943627	1.000000	0.71417	0.973000	0.42090	0.600000	0.36913	4.485000	0.60279	2.454000	0.82982	0.561000	0.74099	CCA		0.612	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		4	58	4	58	---	---	---	---
TTC6	319089	broad.mit.edu	37	14	38277950	38277950	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr14:38277950G>A	ENST00000476979.1	+	6	657	c.370G>A	c.(370-372)Gca>Aca	p.A124T	TTC6_ENST00000382320.3_Missense_Mutation_p.A204T|TTC6_ENST00000267368.7_Missense_Mutation_p.A124T|TTC6_ENST00000553443.1_Missense_Mutation_p.A1490T			Q86TZ1	TTC6_HUMAN	tetratricopeptide repeat domain 6	124										central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		TTATAAGCTAGCAATTACAGA	0.274																																						ENST00000553443.1																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14						c.(4468-4470)Gca>Aca		tetratricopeptide repeat domain 6							102.0	108.0	106.0					14																	38277950		2200	4280	6480	SO:0001583	missense	319089							g.chr14:38277950G>A	BC014342		14q13.1	2013-01-10			ENSG00000139865	ENSG00000139865		"""Tetratricopeptide (TTC) repeat domain containing"""	19739	protein-coding gene	gene with protein product			"""non-protein coding RNA 291"", ""chromosome 14 open reading frame 25"""	NCRNA00291, C14orf25			Standard	XM_006709976		Approved		uc001wuj.3	Q86TZ1	OTTHUMG00000157369	ENST00000476979.1:c.370G>A	14.37:g.38277950G>A	ENSP00000417788:p.Ala124Thr					TTC6_ENST00000267368.7_Missense_Mutation_p.A124T|TTC6_ENST00000382320.3_Missense_Mutation_p.A204T|TTC6_ENST00000476979.1_Missense_Mutation_p.A124T	p.A1490T					Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)	24	4468	+	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)							Q3SY88|Q96CE6	Missense_Mutation	SNP	ENST00000476979.1	37	c.4468G>A		.	.	.	.	.	.	.	.	.	.	G	25.7	4.669086	0.88348	.	.	ENSG00000139865	ENST00000553443;ENST00000476979;ENST00000267368;ENST00000382320	D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49	5.65	5.65	0.86999	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.070483	0.56097	D	0.000039	D	0.94522	0.8236	.	.	.	0.29224	N	0.8737159999999999	D;D	0.89917	1.0;0.997	D;D	0.80764	0.994;0.951	D	0.94874	0.8033	8	0.87932	D	0	-4.4848	16.6508	0.85188	0.0:0.0:1.0:0.0	.	1490;124	G3V3A5;Q86TZ1	.;TTC6_HUMAN	T	1490;124;124;204	ENSP00000451131:A1490T;ENSP00000417788:A124T;ENSP00000267368:A124T;ENSP00000371757:A204T	ENSP00000267368:A124T	A	+	1	0	TTC6	37347701	0.997000	0.39634	0.975000	0.42487	0.989000	0.77384	4.779000	0.62375	2.670000	0.90874	0.467000	0.42956	GCA		0.274	TTC6-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000348621.2	XM_002343299		29	58	29	58	---	---	---	---
KRT27	342574	broad.mit.edu	37	17	38938670	38938670	+	Missense_Mutation	SNP	C	C	A	rs199775750		TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr17:38938670C>A	ENST00000301656.3	-	1	116	c.76G>T	c.(76-78)Ggg>Tgg	p.G26W		NM_181537.3	NP_853515.2			keratin 27											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				CCTGCTCCCCCACTAGAGAGC	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		18009	0.001		0.0	False		,,,				2504	0.0					ENST00000301656.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21						c.(76-78)Ggg>Tgg		keratin 27							49.0	47.0	47.0					17																	38938670		2203	4300	6503	SO:0001583	missense	342574					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38938670C>A	AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30841	protein-coding gene	gene with protein product			"""keratin 25C"""	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.76G>T	17.37:g.38938670C>A	ENSP00000301656:p.Gly26Trp						p.G26W	NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN			1	116	-		Breast(137;0.000812)	26			Gly-rich.|Head.			Missense_Mutation	SNP	ENST00000301656.3	37	c.76G>T	CCDS11375.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	17.24	3.340502	0.60963	.	.	ENSG00000171446	ENST00000301656	D	0.84660	-1.88	5.54	4.56	0.56223	.	0.306916	0.28031	N	0.016868	D	0.90435	0.7005	M	0.84511	2.7	0.09310	N	1	P	0.50819	0.939	P	0.54372	0.75	D	0.84283	0.0495	10	0.38643	T	0.18	.	14.3822	0.66919	0.0:0.853:0.147:0.0	.	26	Q7Z3Y8	K1C27_HUMAN	W	26	ENSP00000301656:G26W	ENSP00000301656:G26W	G	-	1	0	KRT27	36192196	0.004000	0.15560	0.049000	0.19019	0.091000	0.18340	0.874000	0.28065	1.445000	0.47624	0.655000	0.94253	GGG		0.587	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257216.1	NM_181537		3	17	3	17	---	---	---	---
OR4D2	124538	broad.mit.edu	37	17	56247418	56247418	+	Silent	SNP	C	C	A			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr17:56247418C>A	ENST00000545221.1	+	1	402	c.402C>A	c.(400-402)acC>acA	p.T134T		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	134						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						GCTATGTCACCGTCATGAACA	0.577																																						ENST00000545221.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						c.(400-402)acC>acA		olfactory receptor, family 4, subfamily D, member 2							90.0	90.0	90.0					17																	56247418		2203	4300	6503	SO:0001819	synonymous_variant	124538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:56247418C>A		CCDS32688.1	17q22	2013-09-23			ENSG00000255713	ENSG00000255713		"""GPCR / Class A : Olfactory receptors"""	8294	protein-coding gene	gene with protein product							Standard	NM_001004707		Approved		uc010wnp.2	P58180	OTTHUMG00000178801	ENST00000545221.1:c.402C>A	17.37:g.56247418C>A							p.T134T	NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN			1	402	+			134					Q6IFN8|Q96R75	Silent	SNP	ENST00000545221.1	37	c.402C>A	CCDS32688.1																																																																																				0.577	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443366.1			4	90	4	90	---	---	---	---
UQCR10	29796	broad.mit.edu	37	22	30163414	30163414	+	Silent	SNP	A	A	G	rs17849991		TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr22:30163414A>G	ENST00000330029.6	+	1	57	c.27A>G	c.(25-27)aaA>aaG	p.K9K	ZMAT5_ENST00000344318.3_5'Flank|ZMAT5_ENST00000397781.3_5'Flank|UQCR10_ENST00000401406.3_Silent_p.K9K	NM_001003684.1|NM_013387.3	NP_001003684.1|NP_037519.2	Q9UDW1	QCR9_HUMAN	ubiquinol-cytochrome c reductase, complex III subunit X	9					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)	ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)	5						TGACTTCGAAATTGTACTCCC	0.627																																						ENST00000330029.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)	5						c.(25-27)aaA>aaG		ubiquinol-cytochrome c reductase, complex III subunit X							53.0	61.0	59.0					22																	30163414		2053	4193	6246	SO:0001819	synonymous_variant	29796				mitochondrial electron transport, ubiquinol to cytochrome c	mitochondrial inner membrane|respiratory chain	ubiquinol-cytochrome-c reductase activity	g.chr22:30163414A>G	AB028598	CCDS46680.1, CCDS46681.1	22q12.2	2011-07-04			ENSG00000184076	ENSG00000184076		"""Mitochondrial respiratory chain complex / Complex III"""	30863	protein-coding gene	gene with protein product	"""ubiquinol-cytochrome c reductase, complex III subunit X, 7.2kDa"", ""complex III subunit 9"""	610843				11042152	Standard	NM_013387		Approved	HSPC051, UCRC, QCR9, UCCR7.2	uc003agq.1	Q9UDW1	OTTHUMG00000151283	ENST00000330029.6:c.27A>G	22.37:g.30163414A>G						UQCR10_ENST00000401406.3_Silent_p.K9K	p.K9K	NM_001003684.1|NM_013387.3	NP_001003684.1|NP_037519.2	Q9UDW1	QCR9_HUMAN			1	57	+			9					B5MCM5|Q9T2V6	Silent	SNP	ENST00000330029.6	37	c.27A>G	CCDS46680.1																																																																																				0.627	UQCR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322081.1	NM_013387		5	25	5	25	---	---	---	---
WWC3	55841	broad.mit.edu	37	X	10058810	10058810	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chrX:10058810G>A	ENST00000380861.4	+	6	768		c.e6-1		WWC3_ENST00000454666.1_Splice_Site	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3						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)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						GTTTTAACTAGGATTGATCGG	0.423																																						ENST00000380861.4																			0				NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						c.e6-1		WWC family member 3							77.0	68.0	71.0					X																	10058810		2203	4300	6503	SO:0001630	splice_region_variant	55841							g.chrX:10058810G>A	AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.378-1G>A	X.37:g.10058810G>A						WWC3_ENST00000454666.1_Splice_Site		NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN			6	768	+								A8KA96|Q659C1|Q9BTQ1	Splice_Site	SNP	ENST00000380861.4	37		CCDS14136.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.638663	0.47153	.	.	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000398613	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2464	0.87029	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WWC3	10018810	1.000000	0.71417	1.000000	0.80357	0.312000	0.27988	9.284000	0.95882	2.082000	0.62665	0.506000	0.49869	.		0.423	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691	Intron	9	13	9	13	---	---	---	---
POGZ	23126	broad.mit.edu	37	1	151377502	151377515	+	Frame_Shift_Del	DEL	TAATGTTGCCATCG	TAATGTTGCCATCG	-	rs545762626		TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr1:151377502_151377515delTAATGTTGCCATCG	ENST00000271715.2	-	19	4310_4323	c.3996_4009delCGATGGCAACATTA	c.(3994-4011)cccgatggcaacattaacfs	p.DGNIN1333fs	POGZ_ENST00000392723.1_Frame_Shift_Del_p.DGNIN1280fs|POGZ_ENST00000368863.2_Frame_Shift_Del_p.DGNIN1238fs|POGZ_ENST00000409503.1_Frame_Shift_Del_p.DGNIN1324fs|POGZ_ENST00000361398.3_Frame_Shift_Del_p.DGNIN1280fs|POGZ_ENST00000491586.1_Frame_Shift_Del_p.DGNIN1289fs|POGZ_ENST00000540984.1_Frame_Shift_Del_p.DGNIN695fs|POGZ_ENST00000531094.1_Frame_Shift_Del_p.DGNIN1271fs	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1333					kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTAGGTGAGTTAATGTTGCCATCGGGGCCAGGCA	0.542											OREG0003905	type=REGULATORY REGION|Gene=POGZ|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000271715.2																			0				NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47						c.(3994-4011)cccgatggcaacattaacfs		pogo transposable element with ZNF domain																																				SO:0001589	frameshift_variant	23126				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding	g.chr1:151377502_151377515delTAATGTTGCCATCG	AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"""zinc finger protein 280E"", ""putative protein product of Nbla00003"""	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.3996_4009delCGATGGCAACATTA	1.37:g.151377502_151377515delTAATGTTGCCATCG	ENSP00000271715:p.Asp1333fs		OREG0003905	type=REGULATORY REGION|Gene=POGZ|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1739	POGZ_ENST00000540984.1_Frame_Shift_Del_p.DGNIN695fs|POGZ_ENST00000491586.1_Frame_Shift_Del_p.DGNIN1289fs|POGZ_ENST00000531094.1_Frame_Shift_Del_p.DGNIN1271fs|POGZ_ENST00000392723.1_Frame_Shift_Del_p.DGNIN1280fs|POGZ_ENST00000368863.2_Frame_Shift_Del_p.DGNIN1238fs|POGZ_ENST00000409503.1_Frame_Shift_Del_p.DGNIN1324fs|POGZ_ENST00000361398.3_Frame_Shift_Del_p.DGNIN1280fs	p.DGNIN1333fs	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		19	4310_4323	-	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		1333					B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Frame_Shift_Del	DEL	ENST00000271715.2	37	c.3996_4009delCGATGGCAACATTA	CCDS997.1																																																																																				0.542	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	NM_207171		7	35	7	35	---	---	---	---
IRF4	3662	broad.mit.edu	37	6	397161	397161	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr6:397161delC	ENST00000380956.4	+	5	672	c.546delC	c.(544-546)gtcfs	p.V182fs	IRF4_ENST00000495137.1_3'UTR	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	182					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		GGGACTACGTCCCGGATCAGC	0.567			T	IGH@	MM																																	ENST00000380956.4				Dom	yes		6	6p25-p23	3662	T	interferon regulatory factor 4			L	IGH@		MM		0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5						c.(544-546)gtcfs		interferon regulatory factor 4							110.0	115.0	113.0					6																	397161		2203	4300	6503	SO:0001589	frameshift_variant	3662				interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:397161delC	U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.546delC	6.37:g.397161delC	ENSP00000370343:p.Val182fs					IRF4_ENST00000495137.1_3'UTR	p.V182fs	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)	5	672	+		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	182					Q5VUI7|Q99660	Frame_Shift_Del	DEL	ENST00000380956.4	37	c.546delC	CCDS4469.1																																																																																				0.567	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043638.1			25	119	25	119	---	---	---	---
PHACTR1	221692	broad.mit.edu	37	6	13206177	13206177	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr6:13206177delG	ENST00000379350.1	+	7	924	c.795delG	c.(793-795)aagfs	p.K265fs	PHACTR1_ENST00000457702.2_Frame_Shift_Del_p.K120fs|PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Frame_Shift_Del_p.K265fs			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	265					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			CAGCCCAGAAGAGTGGCCAGC	0.627																																						ENST00000379350.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26						c.(793-795)aagfs		phosphatase and actin regulator 1							52.0	61.0	58.0					6																	13206177		2082	4198	6280	SO:0001589	frameshift_variant	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13206177delG	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.795delG	6.37:g.13206177delG	ENSP00000368655:p.Lys265fs					PHACTR1_ENST00000332995.7_Frame_Shift_Del_p.K265fs|PHACTR1_ENST00000457702.2_Frame_Shift_Del_p.K120fs|PHACTR1_ENST00000379345.2_Intron	p.K265fs			Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		7	924	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	265					A8K1V2|Q3MJ93|Q5JSJ2	Frame_Shift_Del	DEL	ENST00000379350.1	37	c.795delG																																																																																					0.627	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420		18	58	18	58	---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21882351	21882351	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr7:21882351delT	ENST00000409508.3	+	66	10912	c.10881delT	c.(10879-10881)gatfs	p.D3627fs	DNAH11_ENST00000328843.6_Frame_Shift_Del_p.D3634fs	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3634	AAA 5. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AAAGGCCAGATTTGGAGAAAC	0.423									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(10900-10902)gatfs		dynein, axonemal, heavy chain 11							34.0	32.0	32.0					7																	21882351		1889	4125	6014	SO:0001589	frameshift_variant	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21882351delT	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.10881delT	7.37:g.21882351delT	ENSP00000475939:p.Asp3627fs					DNAH11_ENST00000409508.3_Frame_Shift_Del_p.D3627fs	p.D3634fs			Q96DT5	DYH11_HUMAN			67	10933	+			3634			AAA 5 (By similarity).		Q9UJ82	Frame_Shift_Del	DEL	ENST00000409508.3	37	c.10902delT																																																																																					0.423	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		2	4	2	4	---	---	---	---
