#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
LRRC8C	84230	broad.mit.edu	37	1	90180327	90180327	+	Missense_Mutation	SNP	C	C	G			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr1:90180327C>G	ENST00000370454.4	+	3	2453	c.2198C>G	c.(2197-2199)aCt>aGt	p.T733S	RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	733					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		AAACTTAAAACTCTGAAGATT	0.338																																						ENST00000370454.4																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28						c.(2197-2199)aCt>aGt		leucine rich repeat containing 8 family, member C							61.0	63.0	62.0					1																	90180327		2203	4300	6503	SO:0001583	missense	84230					endoplasmic reticulum membrane|integral to membrane		g.chr1:90180327C>G		CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"""hypothetical protein AD158"""	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.2198C>G	1.37:g.90180327C>G	ENSP00000359483:p.Thr733Ser					LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	p.T733S	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN		all cancers(265;0.00756)|Epithelial(280;0.0313)	3	2453	+		all_lung(203;0.126)	733					B3KXS9|Q29RV6|Q9H075	Missense_Mutation	SNP	ENST00000370454.4	37	c.2198C>G	CCDS725.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.013789	0.54468	.	.	ENSG00000171488	ENST00000370454	T	0.24350	1.86	5.87	4.95	0.65309	.	0.043054	0.85682	D	0.000000	T	0.08846	0.0219	N	0.20685	0.6	0.54753	D	0.999989	B	0.30542	0.284	B	0.24155	0.051	T	0.07966	-1.0745	10	0.32370	T	0.25	.	15.9441	0.79779	0.0:0.9325:0.0:0.0675	.	733	Q8TDW0	LRC8C_HUMAN	S	733	ENSP00000359483:T733S	ENSP00000359483:T733S	T	+	2	0	LRRC8C	89952915	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.696000	0.68287	2.941000	0.99782	0.655000	0.94253	ACT		0.338	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028435.2	NM_032270		4	99	4	99	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103540313	103540313	+	Missense_Mutation	SNP	A	A	T			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr1:103540313A>T	ENST00000370096.3	-	4	824	c.512T>A	c.(511-513)gTg>gAg	p.V171E	COL11A1_ENST00000353414.4_Missense_Mutation_p.V171E|COL11A1_ENST00000358392.2_Missense_Mutation_p.V171E|COL11A1_ENST00000512756.1_Missense_Mutation_p.V171E	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	171	Laminin G-like.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTTCTTCTCCACGCTGATTGC	0.383																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(511-513)gTg>gAg		collagen, type XI, alpha 1							144.0	125.0	131.0					1																	103540313		2202	4300	6502	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103540313A>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.512T>A	1.37:g.103540313A>T	ENSP00000359114:p.Val171Glu					COL11A1_ENST00000512756.1_Missense_Mutation_p.V171E|COL11A1_ENST00000353414.4_Missense_Mutation_p.V171E|COL11A1_ENST00000370096.3_Missense_Mutation_p.V171E	p.V171E	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	4	829	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	171			TSP N-terminal.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.512T>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	A	18.33	3.599638	0.66332	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239;ENST00000447608	T;T;T;T;T;T	0.03242	4.0;4.0;4.0;4.0;4.0;4.0	5.73	5.73	0.89815	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	T	0.20373	0.0490	H	0.94582	3.555	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.996;0.996;0.998	T	0.17592	-1.0364	10	0.87932	D	0	.	16.0191	0.80468	1.0:0.0:0.0:0.0	.	171;171;171;171	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	E	171;171;171;171;171;98	ENSP00000359114:V171E;ENSP00000351163:V171E;ENSP00000302551:V171E;ENSP00000426533:V171E;ENSP00000408640:V171E;ENSP00000410177:V98E	ENSP00000302551:V171E	V	-	2	0	COL11A1	103312901	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.335000	0.96500	2.174000	0.68829	0.528000	0.53228	GTG		0.383	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		25	40	25	40	---	---	---	---
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C	rs369310197		TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					protein targeting to Golgi (GO:0000042)			p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373																																						ENST00000409886.3																			6	Substitution - Missense(6)	p.N756D(6)	endometrium(6)	breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2266-2268)Aac>Gac		RANBP2-like and GRIP domain containing 3							164.0	133.0	142.0					2																	107049681		692	1590	2282	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107049681T>C		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2266A>G	2.37:g.107049681T>C	ENSP00000386588:p.Asn756Asp					RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			16	2353	-			756					B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.2266A>G	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.481585	0.00163	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.23754	1.89;1.89	2.34	2.34	0.29019	.	.	.	.	.	T	0.07638	0.0192	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37979	-0.9682	9	0.02654	T	1	-2.2547	7.1228	0.25454	0.0:0.8499:0.0:0.1501	.	756	A6NKT7	RGPD3_HUMAN	D	756;514;756	ENSP00000386588:N756D;ENSP00000303659:N756D	ENSP00000303659:N756D	N	-	1	0	RGPD3	106416113	0.974000	0.33945	0.242000	0.24170	0.003000	0.03518	4.107000	0.57811	0.325000	0.23359	-1.206000	0.01644	AAC		0.373	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		5	429	5	429	---	---	---	---
ORMDL1	94101	broad.mit.edu	37	2	190636618	190636618	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr2:190636618C>T	ENST00000325795.3	-	3	1123	c.337G>A	c.(337-339)Gca>Aca	p.A113T	ORMDL1_ENST00000496543.1_5'UTR|ORMDL1_ENST00000392350.3_Missense_Mutation_p.A113T|ORMDL1_ENST00000392349.4_Missense_Mutation_p.A113T			Q9P0S3	ORML1_HUMAN	ORMDL sphingolipid biosynthesis regulator 1	113					ceramide metabolic process (GO:0006672)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(1)|urinary_tract(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00177)|Epithelial(96;0.0317)|all cancers(119;0.0889)			TAGAAACTTGCCAGAAAATAT	0.328																																						ENST00000325795.3																			0				breast(1)|urinary_tract(1)	2						c.(337-339)Gca>Aca		ORM1-like 1 (S. cerevisiae)							56.0	57.0	56.0					2																	190636618		2203	4300	6503	SO:0001583	missense	94101				ceramide metabolic process	endoplasmic reticulum membrane|integral to membrane		g.chr2:190636618C>T		CCDS2301.1	2q32	2014-06-16	2014-06-16		ENSG00000128699	ENSG00000128699			16036	protein-coding gene	gene with protein product		610073	"""ORM1 (S. cerevisiae)-like 1"", ""ORM1-like 1 (S. cerevisiae)"""			12093374, 23066021	Standard	NM_016467		Approved		uc002ure.4	Q9P0S3	OTTHUMG00000132661	ENST00000325795.3:c.337G>A	2.37:g.190636618C>T	ENSP00000326869:p.Ala113Thr					ORMDL1_ENST00000392350.3_Missense_Mutation_p.A113T|ORMDL1_ENST00000496543.1_5'UTR|ORMDL1_ENST00000392349.4_Missense_Mutation_p.A113T	p.A113T			Q9P0S3	ORML1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00177)|Epithelial(96;0.0317)|all cancers(119;0.0889)		3	1123	-			113					B2R8W3|D3DPH9	Missense_Mutation	SNP	ENST00000325795.3	37	c.337G>A	CCDS2301.1	.	.	.	.	.	.	.	.	.	.	C	6.906	0.536702	0.13188	.	.	ENSG00000128699	ENST00000392350;ENST00000325795;ENST00000392349	.	.	.	5.21	5.21	0.72293	.	0.052491	0.85682	D	0.000000	T	0.39145	0.1067	N	0.19112	0.55	0.80722	D	1	B	0.10296	0.003	B	0.12156	0.007	T	0.21415	-1.0246	9	0.17832	T	0.49	-22.2973	10.5252	0.44943	0.0:0.8508:0.0:0.1492	.	113	Q9P0S3	ORML1_HUMAN	T	113	.	ENSP00000326869:A113T	A	-	1	0	ORMDL1	190344863	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.247000	0.51422	2.707000	0.92482	0.655000	0.94253	GCA		0.328	ORMDL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335275.1	NM_016467		3	39	3	39	---	---	---	---
PASK	23178	broad.mit.edu	37	2	242066448	242066448	+	Missense_Mutation	SNP	G	G	A	rs375258850		TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr2:242066448G>A	ENST00000405260.1	-	10	2580	c.1882C>T	c.(1882-1884)Ccc>Tcc	p.P628S	PASK_ENST00000358649.4_Missense_Mutation_p.P628S|PASK_ENST00000403638.3_Missense_Mutation_p.P628S|PASK_ENST00000234040.4_Missense_Mutation_p.P628S|PASK_ENST00000544142.1_Missense_Mutation_p.P442S|PASK_ENST00000539818.1_Missense_Mutation_p.P412S	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	628					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GAGGGGCTGGGGGCCAAGTCC	0.637																																						ENST00000403638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53						c.(1882-1884)Ccc>Tcc		PAS domain containing serine/threonine kinase							64.0	70.0	68.0					2																	242066448		2203	4300	6503	SO:0001583	missense	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242066448G>A	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.1882C>T	2.37:g.242066448G>A	ENSP00000384016:p.Pro628Ser					PASK_ENST00000405260.1_Missense_Mutation_p.P628S|PASK_ENST00000234040.4_Missense_Mutation_p.P628S|PASK_ENST00000539818.1_Missense_Mutation_p.P412S|PASK_ENST00000358649.4_Missense_Mutation_p.P628S|PASK_ENST00000544142.1_Missense_Mutation_p.P442S	p.P628S	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	10	1973	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	628					G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	37	c.1882C>T	CCDS2545.1	.	.	.	.	.	.	.	.	.	.	G	6.990	0.552812	0.13374	.	.	ENSG00000115687	ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818;ENST00000403638	T;T;T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.7;-0.72;0.1	3.17	2.25	0.28309	.	0.903952	0.09397	N	0.807798	T	0.61887	0.2383	L	0.27053	0.805	0.09310	N	1	B;B;B;B;B	0.26809	0.02;0.16;0.16;0.16;0.099	B;B;B;B;B	0.28305	0.016;0.037;0.037;0.088;0.016	T	0.52041	-0.8628	10	0.41790	T	0.15	.	8.6458	0.34005	0.0:0.2376:0.7624:0.0	.	593;442;628;628;628	B7Z7R6;F5GYW7;Q96RG2-2;G5E9F1;Q96RG2	.;.;.;.;PASK_HUMAN	S	628;442;628;628;412;628	ENSP00000234040:P628S;ENSP00000441374:P442S;ENSP00000384016:P628S;ENSP00000351475:P628S;ENSP00000443083:P412S;ENSP00000384438:P628S	ENSP00000234040:P628S	P	-	1	0	PASK	241715121	0.000000	0.05858	0.025000	0.17156	0.006000	0.05464	0.210000	0.17455	0.604000	0.29930	0.561000	0.74099	CCC		0.637	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		53	44	53	44	---	---	---	---
MFI2	4241	broad.mit.edu	37	3	196742335	196742335	+	Silent	SNP	C	C	T			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr3:196742335C>T	ENST00000296350.5	-	9	1247	c.1134G>A	c.(1132-1134)aaG>aaA	p.K378K		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	378	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		TGTCTCCACACTTCTGGATCT	0.657																																						ENST00000296350.5																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20						c.(1132-1134)aaG>aaA		antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5							28.0	25.0	26.0					3																	196742335		2201	4300	6501	SO:0001819	synonymous_variant	4241				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding	g.chr3:196742335C>T		CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"""CD molecules"""	7037	protein-coding gene	gene with protein product	"""melanotransferrin"", ""membrane-bound transferrin-like protein"""	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.1134G>A	3.37:g.196742335C>T							p.K378K	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)	9	1247	-	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		378			Transferrin-like 2.		Q9BQE2	Silent	SNP	ENST00000296350.5	37	c.1134G>A	CCDS3325.1																																																																																				0.657	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340458.1			6	6	6	6	---	---	---	---
DCHS2	54798	broad.mit.edu	37	4	155254287	155254287	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr4:155254287C>T	ENST00000357232.4	-	9	1575	c.1576G>A	c.(1576-1578)Gtc>Atc	p.V526I	DCHS2_ENST00000339452.1_Missense_Mutation_p.V1025I|DCHS2_ENST00000507542.1_5'UTR	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	526	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATGGCAAAGACGCCTGGCTGC	0.677																																						ENST00000357232.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(1576-1578)Gtc>Atc		dachsous cadherin-related 2							27.0	30.0	29.0					4																	155254287		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155254287C>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.1576G>A	4.37:g.155254287C>T	ENSP00000349768:p.Val526Ile					DCHS2_ENST00000507542.1_5'UTR|DCHS2_ENST00000339452.1_Missense_Mutation_p.V1025I	p.V526I	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	9	1575	-	all_hematologic(180;0.208)	Renal(120;0.0854)				Cadherin 4.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.1576G>A	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	10.20	1.284203	0.23392	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.50548	0.74;0.74	5.6	-7.94	0.01152	Cadherin (4);Cadherin-like (1);	1.215770	0.06219	N	0.686378	T	0.18173	0.0436	N	0.02368	-0.58	0.09310	N	0.999999	B;B	0.16396	0.017;0.013	B;B	0.10450	0.005;0.003	T	0.29549	-1.0008	10	0.19147	T	0.46	.	9.9551	0.41661	0.0:0.2571:0.1665:0.5763	.	1025;526	E9PC11;Q6V1P9	.;PCD23_HUMAN	I	526;1025;1025	ENSP00000349768:V526I;ENSP00000345062:V1025I	ENSP00000345062:V1025I	V	-	1	0	DCHS2	155473737	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-1.442000	0.02407	-1.601000	0.01601	-0.251000	0.11542	GTC		0.677	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		17	29	17	29	---	---	---	---
DDX46	9879	broad.mit.edu	37	5	134152276	134152276	+	Silent	SNP	T	T	C			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr5:134152276T>C	ENST00000354283.4	+	19	2728	c.2593T>C	c.(2593-2595)Ttg>Ctg	p.L865L	DDX46_ENST00000452510.2_Silent_p.L865L			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	865					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCAGAAGAATTTGGGCATCGA	0.373																																					Colon(13;391 453 4901 21675 24897)	ENST00000452510.2																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(2593-2595)Ttg>Ctg		DEAD (Asp-Glu-Ala-Asp) box polypeptide 46							42.0	45.0	44.0					5																	134152276		2203	4300	6503	SO:0001819	synonymous_variant	9879				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr5:134152276T>C		CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"""DEAD-boxes"""	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.2593T>C	5.37:g.134152276T>C						DDX46_ENST00000354283.4_Silent_p.L865L	p.L865L	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		19	2751	+			865					O94894|Q96EI0|Q9Y658	Silent	SNP	ENST00000354283.4	37	c.2593T>C	CCDS34240.1																																																																																				0.373	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	NM_014829		36	45	36	45	---	---	---	---
PCDHB6	56130	broad.mit.edu	37	5	140531920	140531920	+	Silent	SNP	G	G	A	rs558040784		TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr5:140531920G>A	ENST00000231136.1	+	1	2082	c.2082G>A	c.(2080-2082)tcG>tcA	p.S694S	PCDHB6_ENST00000543635.1_Silent_p.S558S	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	694					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGTTGGCCTCGGTGTCGTCGC	0.692													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16504	0.0		0.0	False		,,,				2504	0.0					ENST00000231136.1																			0				cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(2080-2082)tcG>tcA									78.0	85.0	82.0					5																	140531920		2199	4291	6490	SO:0001819	synonymous_variant	56130				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140531920G>A	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.2082G>A	5.37:g.140531920G>A						PCDHB6_ENST00000543635.1_Silent_p.S558S	p.S694S	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2082	+			694					B2R8R9	Silent	SNP	ENST00000231136.1	37	c.2082G>A	CCDS4248.1																																																																																				0.692	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		77	123	77	123	---	---	---	---
PCDHB18	54660	broad.mit.edu	37	5	140615769	140615769	+	RNA	SNP	G	G	A	rs568852899		TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr5:140615769G>A	ENST00000526308.1	+	0	1832					NR_001281.1		Q96TA0	PCDBI_HUMAN	protocadherin beta 18 pseudogene						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						GTGCTGGTGCGCGTGCTGGTG	0.701													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15794	0.0		0.0	False		,,,				2504	0.0					ENST00000526308.1																			0				endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18																																														54660							g.chr5:140615769G>A	AF152528		5q31.3	2014-03-20			ENSG00000146001	ENSG00000146001		"""Cadherins / Protocadherins : Clustered"""	14548	pseudogene	pseudogene						10380929	Standard	NR_001281		Approved	PCDH-psi2	uc003ljc.1	Q96TA0	OTTHUMG00000167484		5.37:g.140615769G>A								NR_001281.1						0	1832	+								B3KTF8	RNA	SNP	ENST00000526308.1	37																																																																																						0.701	PCDHB18-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000394776.1			10	106	10	106	---	---	---	---
FILIP1	27145	broad.mit.edu	37	6	76124576	76124576	+	Missense_Mutation	SNP	T	T	G			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr6:76124576T>G	ENST00000237172.7	-	2	443	c.113A>C	c.(112-114)aAg>aCg	p.K38T	FILIP1_ENST00000393004.2_Missense_Mutation_p.K38T	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	38	Poly-Lys.									breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTTCTTCTTCTTTTTTGCATC	0.428																																						ENST00000393004.2																			0				breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(112-114)aAg>aCg		filamin A interacting protein 1							200.0	196.0	198.0					6																	76124576		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76124576T>G	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.113A>C	6.37:g.76124576T>G	ENSP00000237172:p.Lys38Thr					FILIP1_ENST00000237172.7_Missense_Mutation_p.K38T	p.K38T			Q7Z7B0	FLIP1_HUMAN			2	334	-			38			Poly-Lys.		B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.113A>C	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	T	13.41	2.228688	0.39399	.	.	ENSG00000118407	ENST00000393004;ENST00000237172	T;T	0.19669	2.13;2.13	5.55	3.15	0.36227	.	0.114441	0.64402	D	0.000016	T	0.10165	0.0249	L	0.27053	0.805	0.30524	N	0.768125	P;P;D	0.55385	0.759;0.917;0.971	B;B;P	0.52343	0.245;0.401;0.696	T	0.08889	-1.0700	10	0.40728	T	0.16	-13.9808	9.9176	0.41444	0.0:0.1385:0.0:0.8615	.	38;38;38	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	T	38	ENSP00000376728:K38T;ENSP00000237172:K38T	ENSP00000237172:K38T	K	-	2	0	FILIP1	76181296	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	4.119000	0.57891	0.391000	0.25143	-0.256000	0.11100	AAG		0.428	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		80	92	80	92	---	---	---	---
FZD6	8323	broad.mit.edu	37	8	104330852	104330852	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr8:104330852C>T	ENST00000358755.4	+	3	529	c.212C>T	c.(211-213)cCa>cTa	p.P71L	FZD6_ENST00000540287.1_Intron|FZD6_ENST00000523739.1_Missense_Mutation_p.P39L|FZD6_ENST00000522566.1_Missense_Mutation_p.P71L	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	71	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				angiogenesis (GO:0001525)|axonogenesis (GO:0007409)|cell proliferation in midbrain (GO:0033278)|embryonic nail plate morphogenesis (GO:0035880)|establishment of planar polarity (GO:0001736)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|platelet activation (GO:0030168)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			GAATGTTCACCAAACATTGAA	0.308																																						ENST00000358755.4																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(211-213)cCa>cTa		frizzled family receptor 6							86.0	86.0	86.0					8																	104330852		2203	4300	6503	SO:0001583	missense	8323				angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr8:104330852C>T	AB012911	CCDS6298.1, CCDS55268.1	8q22.3-q23.1	2014-01-29	2014-01-29		ENSG00000164930	ENSG00000164930		"""GPCR / Class F : Frizzled receptors"""	4044	protein-coding gene	gene with protein product		603409	"""frizzled (Drosophila) homolog 6"", ""frizzled homolog 6 (Drosophila)"", ""frizzled 6, seven transmembrane spanning receptor"", ""frizzled family receptor 6"""			9480858, 14747478	Standard	NM_003506		Approved	Hfz6	uc003ylh.3	O60353	OTTHUMG00000164840	ENST00000358755.4:c.212C>T	8.37:g.104330852C>T	ENSP00000351605:p.Pro71Leu					FZD6_ENST00000540287.1_Intron|FZD6_ENST00000522566.1_Missense_Mutation_p.P71L|FZD6_ENST00000523739.1_Missense_Mutation_p.P39L	p.P71L	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)		3	529	+			71			FZ.		B4DRN0|Q6N0A5|Q6P9C3|Q8WXR9	Missense_Mutation	SNP	ENST00000358755.4	37	c.212C>T	CCDS6298.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.566744	0.86439	.	.	ENSG00000164930	ENST00000522566;ENST00000358755;ENST00000523739;ENST00000539487	T;T;T	0.76709	-1.04;-1.04;-1.04	5.75	4.87	0.63330	Frizzled domain (5);	0.100132	0.64402	N	0.000001	D	0.88724	0.6514	M	0.84846	2.72	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.998	D;D;D	0.87578	0.983;0.998;0.983	D	0.90078	0.4168	10	0.59425	D	0.04	.	14.514	0.67807	0.0:0.93:0.0:0.07	.	16;71;71	B4E236;B2R9H9;O60353	.;.;FZD6_HUMAN	L	71;71;39;16	ENSP00000429055:P71L;ENSP00000351605:P71L;ENSP00000429528:P39L	ENSP00000351605:P71L	P	+	2	0	FZD6	104400028	0.987000	0.35691	0.975000	0.42487	0.976000	0.68499	3.007000	0.49536	1.435000	0.47434	0.655000	0.94253	CCA		0.308	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380560.1	NM_003506		43	50	43	50	---	---	---	---
RNF20	56254	broad.mit.edu	37	9	104314097	104314097	+	Silent	SNP	A	A	G			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr9:104314097A>G	ENST00000389120.3	+	11	1494	c.1404A>G	c.(1402-1404)caA>caG	p.Q468Q	AL591377.1_ENST00000584534.1_RNA	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	468					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		CCAATGAACAAGCAGGTATAA	0.433																																						ENST00000389120.3																			0				breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(1402-1404)caA>caG		ring finger protein 20, E3 ubiquitin protein ligase							87.0	84.0	85.0					9																	104314097		2203	4300	6503	SO:0001819	synonymous_variant	56254				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:104314097A>G	AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"""RING-type (C3HC4) zinc fingers"""	10062	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"""	607699	"""ring finger protein 20"""			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.1404A>G	9.37:g.104314097A>G							p.Q468Q	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)	11	1494	+		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)	468					A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Silent	SNP	ENST00000389120.3	37	c.1404A>G	CCDS35084.1																																																																																				0.433	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		31	44	31	44	---	---	---	---
SKIDA1	387640	broad.mit.edu	37	10	21804625	21804625	+	Silent	SNP	G	G	A			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr10:21804625G>A	ENST00000449193.2	-	4	4379	c.2127C>T	c.(2125-2127)tgC>tgT	p.C709C	SKIDA1_ENST00000444772.3_Silent_p.C630C	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	628						nucleus (GO:0005634)											CATTGCACTCGCACTTTAGCT	0.393																																						ENST00000449193.2																			0											c.(2125-2127)tgC>tgT		SKI/DACH domain containing 1							213.0	215.0	215.0					10																	21804625		1933	4132	6065	SO:0001819	synonymous_variant	387640							g.chr10:21804625G>A	AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 140"""	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.2127C>T	10.37:g.21804625G>A						SKIDA1_ENST00000444772.3_Silent_p.C630C	p.C709C	NM_207371.3	NP_997254.3					4	4379	-								B1ANA5|Q6ZMX4|Q8N3C3	Silent	SNP	ENST00000449193.2	37	c.2127C>T	CCDS44363.1																																																																																				0.393	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2	NM_207371		4	195	4	195	---	---	---	---
ZW10	9183	broad.mit.edu	37	11	113639666	113639666	+	Missense_Mutation	SNP	G	G	C			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr11:113639666G>C	ENST00000200135.3	-	2	273	c.129C>G	c.(127-129)agC>agG	p.S43R	RP11-667M19.2_ENST00000543486.1_RNA	NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	43	Interaction with RINT1.|Interaction with ZWINT.				ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic metaphase plate congression (GO:0007080)|mitotic sister chromatid segregation (GO:0000070)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|protein transport (GO:0015031)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|nucleus (GO:0005634)|spindle pole (GO:0000922)	centromeric DNA binding (GO:0019237)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		TGTACTTCTTGCTAATCATAT	0.393																																						ENST00000200135.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18						c.(127-129)agC>agG		zw10 kinetochore protein							132.0	127.0	129.0					11																	113639666		2201	4296	6497	SO:0001583	missense	9183				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding	g.chr11:113639666G>C	U54996	CCDS8363.1	11q23	2013-01-17	2012-12-13		ENSG00000086827	ENSG00000086827			13194	protein-coding gene	gene with protein product		603954	"""ZW10 (Drosophila) homolog, centromere/kinetochore protein"", ""ZW10, kinetochore associated, homolog (Drosophila)"""			9298984	Standard	NM_004724		Approved	KNTC1AP	uc001poe.3	O43264	OTTHUMG00000168190	ENST00000200135.3:c.129C>G	11.37:g.113639666G>C	ENSP00000200135:p.Ser43Arg						p.S43R	NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)	2	273	-		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)	43			Interaction with RINT1.|Interaction with ZWINT.		A1A528	Missense_Mutation	SNP	ENST00000200135.3	37	c.129C>G	CCDS8363.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.120782	0.37436	.	.	ENSG00000086827	ENST00000200135	T	0.44482	0.92	4.98	2.98	0.34508	.	0.095704	0.64402	D	0.000001	T	0.27278	0.0669	L	0.36672	1.1	0.35554	D	0.804147	B	0.16802	0.019	B	0.21151	0.033	T	0.17806	-1.0357	10	0.09084	T	0.74	-11.7974	8.3588	0.32346	0.2616:0.0:0.7384:0.0	.	43	O43264	ZW10_HUMAN	R	43	ENSP00000200135:S43R	ENSP00000200135:S43R	S	-	3	2	ZW10	113144876	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	2.132000	0.42083	1.346000	0.45694	-0.244000	0.11960	AGC		0.393	ZW10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398700.1	NM_004724		35	59	35	59	---	---	---	---
NINJ2	4815	broad.mit.edu	37	12	772599	772599	+	Silent	SNP	C	C	T			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr12:772599C>T	ENST00000305108.4	-	1	346	c.66G>A	c.(64-66)acG>acA	p.T22T	RP11-218M22.1_ENST00000543884.1_RNA	NM_016533.4	NP_057617.2	Q9NZG7	NINJ2_HUMAN	ninjurin 2	0					nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|tissue regeneration (GO:0042246)	integral component of plasma membrane (GO:0005887)				large_intestine(3)|lung(1)|ovary(2)	6	all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185)		OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508)			CAGGCTCCGCCGTCTGAGTCT	0.612																																						ENST00000305108.4																			0				large_intestine(3)|lung(1)|ovary(2)	6						c.(64-66)acG>acA		ninjurin 2							88.0	94.0	92.0					12																	772599		2203	4300	6503	SO:0001819	synonymous_variant	4815				nervous system development|neuron cell-cell adhesion|tissue regeneration	integral to plasma membrane		g.chr12:772599C>T	AF205633	CCDS8505.1, CCDS73418.1	12p13	2008-08-05			ENSG00000171840	ENSG00000171840			7825	protein-coding gene	gene with protein product		607297				10627596	Standard	XM_005253689		Approved		uc001qil.3	Q9NZG7	OTTHUMG00000090311	ENST00000305108.4:c.66G>A	12.37:g.772599C>T						RP11-218M22.1_ENST00000543884.1_RNA	p.T22T	NM_016533.4	NP_057617.2	Q9NZG7	NINJ2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508)		1	346	-	all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185)		0						Silent	SNP	ENST00000305108.4	37	c.66G>A	CCDS8505.1																																																																																				0.612	NINJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206673.2	NM_016533		4	92	4	92	---	---	---	---
KIF5A	3798	broad.mit.edu	37	12	57957899	57957899	+	Silent	SNP	G	G	A			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr12:57957899G>A	ENST00000455537.2	+	4	574	c.300G>A	c.(298-300)ctG>ctA	p.L100L	KIF5A_ENST00000286452.5_Intron	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	100	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						AGGGAAAGCTGCACGACCCTC	0.498																																						ENST00000455537.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						c.(298-300)ctG>ctA		kinesin family member 5A							85.0	71.0	76.0					12																	57957899		2203	4300	6503	SO:0001819	synonymous_variant	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57957899G>A	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.300G>A	12.37:g.57957899G>A						KIF5A_ENST00000286452.5_Intron	p.L100L	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN			4	574	+			100			Kinesin-motor.		A6H8M5|Q4LE26	Silent	SNP	ENST00000455537.2	37	c.300G>A	CCDS8945.1																																																																																				0.498	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		18	31	18	31	---	---	---	---
FAM71C	196472	broad.mit.edu	37	12	100042107	100042107	+	Missense_Mutation	SNP	A	A	G			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr12:100042107A>G	ENST00000324341.1	+	1	577	c.155A>G	c.(154-156)cAg>cGg	p.Q52R	ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000547010.1_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	52										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		GACTTTATCCAGATCAGCAAA	0.507																																						ENST00000324341.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(154-156)cAg>cGg		family with sequence similarity 71, member C							148.0	132.0	137.0					12																	100042107		2203	4300	6503	SO:0001583	missense	196472							g.chr12:100042107A>G		CCDS9072.1	12q23.1	2006-02-03				ENSG00000180219			28594	protein-coding gene	gene with protein product						12477932	Standard	NM_153364		Approved	MGC39520	uc001tgn.3	Q8NEG0		ENST00000324341.1:c.155A>G	12.37:g.100042107A>G	ENSP00000315247:p.Gln52Arg					ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Intron	p.Q52R	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)	1	577	+			52					B2R6Y6	Missense_Mutation	SNP	ENST00000324341.1	37	c.155A>G	CCDS9072.1	.	.	.	.	.	.	.	.	.	.	A	13.74	2.325887	0.41197	.	.	ENSG00000180219	ENST00000324341	T	0.25579	1.79	3.75	2.55	0.30701	.	0.121217	0.37095	N	0.002243	T	0.43478	0.1249	M	0.72894	2.215	0.21527	N	0.999659	D	0.89917	1.0	D	0.91635	0.999	T	0.13361	-1.0512	9	.	.	.	-8.3223	6.2063	0.20604	0.7763:0.0:0.0:0.2237	.	52	Q8NEG0	FA71C_HUMAN	R	52	ENSP00000315247:Q52R	.	Q	+	2	0	FAM71C	98566238	1.000000	0.71417	0.960000	0.40013	0.263000	0.26337	2.013000	0.40942	0.734000	0.32515	0.454000	0.30748	CAG		0.507	FAM71C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408458.1	NM_153364		31	64	31	64	---	---	---	---
SRRM4	84530	broad.mit.edu	37	12	119592130	119592130	+	Missense_Mutation	SNP	C	C	A			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr12:119592130C>A	ENST00000267260.4	+	12	1862	c.1474C>A	c.(1474-1476)Cct>Act	p.P492T		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	492	Arg-rich.|Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GTCCTACTCGCCTATGAGAAA	0.672																																						ENST00000267260.4																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						c.(1474-1476)Cct>Act		serine/arginine repetitive matrix 4							17.0	21.0	20.0					12																	119592130		1855	4093	5948	SO:0001583	missense	84530				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	g.chr12:119592130C>A	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.1474C>A	12.37:g.119592130C>A	ENSP00000267260:p.Pro492Thr						p.P492T	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN			12	1862	+			492			Arg-rich.|Ser-rich.		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	ENST00000267260.4	37	c.1474C>A	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	C	35	5.567514	0.96540	.	.	ENSG00000139767	ENST00000267260	T	0.61980	0.06	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.77130	0.4085	L	0.59436	1.845	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	T	0.75193	-0.3404	9	.	.	.	-30.1907	19.2685	0.93998	0.0:1.0:0.0:0.0	.	492	A7MD48	SRRM4_HUMAN	T	492	ENSP00000267260:P492T	.	P	+	1	0	SRRM4	118076513	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.300000	0.78841	2.562000	0.86427	0.655000	0.94253	CCT		0.672	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		6	16	6	16	---	---	---	---
ITGAX	3687	broad.mit.edu	37	16	31382406	31382406	+	Splice_Site	SNP	G	G	A			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr16:31382406G>A	ENST00000268296.4	+	15	1833	c.1712G>A	c.(1711-1713)cGg>cAg	p.R571Q	ITGAX_ENST00000562522.1_Splice_Site_p.R571Q	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	571					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						TCTGGCCAGCGGATCGCGGGC	0.562																																						ENST00000268296.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						c.(1711-1713)cGg>cAg		integrin, alpha X (complement component 3 receptor 4 subunit)							79.0	88.0	85.0					16																	31382406		2197	4300	6497	SO:0001630	splice_region_variant	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31382406G>A	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.1711-1G>A	16.37:g.31382406G>A						ITGAX_ENST00000562522.1_Splice_Site_p.R571Q	p.R571Q	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN			15	1833	+			571					Q8IVA6	Splice_Site	SNP	ENST00000268296.4	37	c.1712G>A	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.840575	0.91197	.	.	ENSG00000140678	ENST00000268296	T	0.64260	-0.09	5.24	5.24	0.73138	.	.	.	.	.	T	0.80859	0.4704	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	P	0.58780	0.845	D	0.85576	0.1237	9	0.87932	D	0	.	16.1017	0.81175	0.0:0.0:1.0:0.0	.	571	P20702	ITAX_HUMAN	Q	571	ENSP00000268296:R571Q	ENSP00000268296:R571Q	R	+	2	0	ITGAX	31289907	1.000000	0.71417	0.147000	0.22382	0.030000	0.12068	5.351000	0.66022	2.577000	0.86979	0.655000	0.94253	CGG		0.562	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887	Missense_Mutation	4	117	4	117	---	---	---	---
RABEP1	9135	broad.mit.edu	37	17	5264971	5264971	+	Splice_Site	SNP	G	G	C			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr17:5264971G>C	ENST00000546142.2	+	9	1750		c.e9+1		RABEP1_ENST00000262477.6_Splice_Site|RABEP1_ENST00000341923.6_Splice_Site|RABEP1_ENST00000408982.2_Splice_Site|RABEP1_ENST00000537505.1_Splice_Site|NUP88_ENST00000573169.1_5'UTR|RP11-420A6.2_ENST00000572792.1_RNA			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1						apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						GCAGAAAGAGGTGAGTTACCT	0.498																																						ENST00000262477.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.e9+1		rabaptin, RAB GTPase binding effector protein 1							70.0	72.0	71.0					17																	5264971		2053	4197	6250	SO:0001630	splice_region_variant	9135				apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity	g.chr17:5264971G>C	AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.1563+1G>C	17.37:g.5264971G>C						RABEP1_ENST00000341923.6_Splice_Site|RABEP1_ENST00000546142.2_Splice_Site|RABEP1_ENST00000408982.2_Splice_Site|RABEP1_ENST00000537505.1_Splice_Site|NUP88_ENST00000573169.1_5'UTR		NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN			9	1787	+								B2RAG7|O95369|Q8IVX3	Splice_Site	SNP	ENST00000546142.2	37		CCDS45592.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.227413	0.79576	.	.	ENSG00000029725	ENST00000262477;ENST00000408982;ENST00000539669;ENST00000546142;ENST00000341923;ENST00000537505	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8588	0.92264	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RABEP1	5205695	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	9.696000	0.98695	2.779000	0.95612	0.655000	0.94253	.		0.498	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439349.1	NM_004703	Intron	6	9	6	9	---	---	---	---
CYP4F3	4051	broad.mit.edu	37	19	15763396	15763396	+	Silent	SNP	G	G	A			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr19:15763396G>A	ENST00000221307.8	+	8	983	c.936G>A	c.(934-936)aaG>aaA	p.K312K	CYP4F3_ENST00000585846.1_Silent_p.K312K|CYP4F3_ENST00000591058.1_Silent_p.K312K|CYP4F3_ENST00000586182.2_Silent_p.K312K	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	312					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						ATGGGAAGAAGTTGTCCGATG	0.517																																						ENST00000221307.8																			0				endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						c.(934-936)aaG>aaA		cytochrome P450, family 4, subfamily F, polypeptide 3							170.0	162.0	165.0					19																	15763396		2203	4300	6503	SO:0001819	synonymous_variant	4051				leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	g.chr19:15763396G>A	AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"""Cytochrome P450s"""	2646	protein-coding gene	gene with protein product		601270	"""cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"""	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.936G>A	19.37:g.15763396G>A						CYP4F3_ENST00000585846.1_Silent_p.K312K|CYP4F3_ENST00000591058.1_Silent_p.K312K|CYP4F3_ENST00000586182.2_Silent_p.K312K	p.K312K	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN			8	983	+								B7Z8Z3|O60634|Q5U740	Silent	SNP	ENST00000221307.8	37	c.936G>A	CCDS12332.1																																																																																				0.517	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		5	119	5	119	---	---	---	---
EPB41L1	2036	broad.mit.edu	37	20	34782245	34782245	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr20:34782245G>A	ENST00000338074.2	+	12	1573	c.1412G>A	c.(1411-1413)gGa>gAa	p.G471E	EPB41L1_ENST00000202028.5_Missense_Mutation_p.G409E|EPB41L1_ENST00000373946.3_Missense_Mutation_p.G440E|EPB41L1_ENST00000373950.2_Missense_Mutation_p.G374E|EPB41L1_ENST00000441639.1_Missense_Mutation_p.G409E|EPB41L1_ENST00000373941.1_Missense_Mutation_p.G471E	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	471					cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GCTGAGGAGGGAGAGGTCAGG	0.607																																						ENST00000338074.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37						c.(1411-1413)gGa>gAa		erythrocyte membrane protein band 4.1-like 1							79.0	46.0	57.0					20																	34782245		2203	4300	6503	SO:0001583	missense	2036				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity	g.chr20:34782245G>A	AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.1412G>A	20.37:g.34782245G>A	ENSP00000337168:p.Gly471Glu					EPB41L1_ENST00000373941.1_Missense_Mutation_p.G471E|EPB41L1_ENST00000373946.3_Missense_Mutation_p.G440E|EPB41L1_ENST00000202028.5_Missense_Mutation_p.G409E|EPB41L1_ENST00000373950.2_Missense_Mutation_p.G374E|EPB41L1_ENST00000441639.1_Missense_Mutation_p.G409E	p.G471E	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN			12	1573	+	Breast(12;0.0239)		471					O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Missense_Mutation	SNP	ENST00000338074.2	37	c.1412G>A	CCDS13271.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.677|3.677	-0.066239|-0.066239	0.07273|0.07273	.|.	.|.	ENSG00000088367|ENSG00000088367	ENST00000451082|ENST00000202028;ENST00000373950;ENST00000397315;ENST00000373951;ENST00000441639;ENST00000373946;ENST00000344237;ENST00000338074;ENST00000373941	.|D;D;D;D;D;D	.|0.82893	.|-1.56;-1.54;-1.56;-1.61;-1.66;-1.66	5.34|5.34	4.39|4.39	0.52855|0.52855	.|.	.|1.567920	.|0.03274	.|N	.|0.185200	T|T	0.63546|0.63546	0.2520|0.2520	N|N	0.04508|0.04508	-0.205|-0.205	0.28687|0.28687	N|N	0.904777|0.904777	.|B;B;B;B;B;B	.|0.09022	.|0.002;0.0;0.002;0.0;0.001;0.0	.|B;B;B;B;B;B	.|0.11329	.|0.004;0.001;0.006;0.001;0.003;0.002	T|T	0.62709|0.62709	-0.6797|-0.6797	5|10	.|0.02654	.|T	.|1	.|.	5.7266|5.7266	0.18017|0.18017	0.2517:0.0:0.7483:0.0|0.2517:0.0:0.7483:0.0	.|.	.|471;471;440;374;374;409	.|B7Z653;Q9H4G0;Q9H4G0-4;Q9H4G0-3;B3KUB6;Q9H4G0-2	.|.;E41L1_HUMAN;.;.;.;.	K|E	49|409;374;471;374;409;440;45;471;471	.|ENSP00000202028:G409E;ENSP00000363061:G374E;ENSP00000399214:G409E;ENSP00000363057:G440E;ENSP00000337168:G471E;ENSP00000363052:G471E	.|ENSP00000202028:G409E	E|G	+|+	1|2	0|0	EPB41L1|EPB41L1	34245659|34245659	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.718000|0.718000	0.41266|0.41266	4.189000|4.189000	0.58358|0.58358	2.502000|2.502000	0.84385|0.84385	0.655000|0.655000	0.94253|0.94253	GAG|GGA		0.607	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	NM_012156		4	11	4	11	---	---	---	---
SLC12A5	57468	broad.mit.edu	37	20	44671824	44671824	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr20:44671824G>A	ENST00000454036.2	+	9	1217	c.1168G>A	c.(1168-1170)Gtg>Atg	p.V390M	SLC12A5_ENST00000243964.3_Missense_Mutation_p.V367M	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	390					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GACCAAGGGCGTGATTGTGGA	0.582																																						ENST00000243964.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.(1099-1101)Gtg>Atg		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)						207.0	183.0	191.0					20																	44671824		2203	4300	6503	SO:0001583	missense	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44671824G>A	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.1168G>A	20.37:g.44671824G>A	ENSP00000387694:p.Val390Met					SLC12A5_ENST00000454036.2_Missense_Mutation_p.V390M	p.V367M	NM_020708.4	NP_065759.1	Q9H2X9	S12A5_HUMAN			9	1197	+		Myeloproliferative disorder(115;0.0122)	390					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	c.1099G>A	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.979908	0.53827	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	T;T	0.59224	0.28;0.28	4.47	4.47	0.54385	.	0.285196	0.31257	N	0.007964	T	0.41903	0.1179	N	0.24115	0.695	0.80722	D	1	B;B	0.19817	0.023;0.039	B;B	0.14023	0.007;0.01	T	0.39961	-0.9588	10	0.62326	D	0.03	.	10.2986	0.43639	0.0907:0.0:0.9093:0.0	.	390;367	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	M	390;367	ENSP00000387694:V390M;ENSP00000243964:V367M	ENSP00000243964:V367M	V	+	1	0	SLC12A5	44105231	0.967000	0.33354	1.000000	0.80357	0.967000	0.64934	2.554000	0.45845	2.470000	0.83445	0.462000	0.41574	GTG		0.582	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			77	105	77	105	---	---	---	---
MXRA5	25878	broad.mit.edu	37	X	3235405	3235405	+	Missense_Mutation	SNP	G	G	C			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chrX:3235405G>C	ENST00000217939.6	-	6	6471	c.6317C>G	c.(6316-6318)aCg>aGg	p.T2106R		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2106	Ig-like C2-type 5.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GATGTAGAGCGTCCCGTTGGG	0.677																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(6316-6318)aCg>aGg		matrix-remodelling associated 5							43.0	37.0	39.0					X																	3235405		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3235405G>C	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.6317C>G	X.37:g.3235405G>C	ENSP00000217939:p.Thr2106Arg						p.T2106R	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			6	6471	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2106			Ig-like C2-type 5.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.6317C>G	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	g	17.42	3.385655	0.61956	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.69926	-0.44	3.63	3.63	0.41609	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.37906	U	0.001891	T	0.81049	0.4742	M	0.77616	2.38	0.52501	D	0.999955	D	0.89917	1.0	D	0.97110	1.0	T	0.83095	-0.0131	10	0.49607	T	0.09	.	15.1094	0.72343	0.0:0.0:1.0:0.0	.	2106	Q9NR99	MXRA5_HUMAN	R	2106	ENSP00000217939:T2106R	ENSP00000217939:T2106R	T	-	2	0	MXRA5	3245405	1.000000	0.71417	0.963000	0.40424	0.649000	0.38597	8.394000	0.90185	1.440000	0.47531	0.597000	0.82753	ACG		0.677	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		10	2	10	2	---	---	---	---
FANCB	2187	broad.mit.edu	37	X	14883152	14883152	+	Missense_Mutation	SNP	C	C	A			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chrX:14883152C>A	ENST00000324138.3	-	2	634	c.481G>T	c.(481-483)Gtt>Ttt	p.V161F	FANCB_ENST00000398334.1_Missense_Mutation_p.V161F	NM_152633.2	NP_689846.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	161					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					GACACACTAACAACTTTGCCA	0.393								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000398334.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						c.(481-483)Gtt>Ttt	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group B							76.0	75.0	75.0					X																	14883152		2203	4299	6502	SO:0001583	missense	2187	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm		g.chrX:14883152C>A	AK091383	CCDS14161.1	Xp22.2	2014-09-17			ENSG00000181544	ENSG00000181544		"""Fanconi anemia, complementation groups"""	3583	protein-coding gene	gene with protein product		300515				9382107, 15502827	Standard	NM_152633		Approved	FAB, FLJ34064, FAAP95	uc004cwh.1	Q8NB91	OTTHUMG00000021168	ENST00000324138.3:c.481G>T	X.37:g.14883152C>A	ENSP00000326819:p.Val161Phe					FANCB_ENST00000324138.3_Missense_Mutation_p.V161F	p.V161F	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN			3	748	-	Hepatocellular(33;0.183)		161					B2RMZ4|Q7Z2U2|Q86XG1	Missense_Mutation	SNP	ENST00000324138.3	37	c.481G>T	CCDS14161.1	.	.	.	.	.	.	.	.	.	.	C	8.300	0.819677	0.16607	.	.	ENSG00000181544	ENST00000324138;ENST00000398334;ENST00000452869	T;T;T	0.35789	1.29;1.29;1.29	5.52	-5.98	0.02220	.	1.318640	0.04652	N	0.407292	T	0.29190	0.0726	L	0.34521	1.04	0.09310	N	1	P	0.41188	0.741	B	0.42422	0.387	T	0.45056	-0.9287	10	0.62326	D	0.03	0.0295	8.9105	0.35550	0.1415:0.6417:0.0848:0.132	.	161	Q8NB91	FANCB_HUMAN	F	161	ENSP00000326819:V161F;ENSP00000381378:V161F;ENSP00000397849:V161F	ENSP00000326819:V161F	V	-	1	0	FANCB	14793073	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.074000	0.03427	-1.526000	0.01760	-0.354000	0.07668	GTT		0.393	FANCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055835.1	NM_152633		35	8	35	8	---	---	---	---
EXOSC10	5394	broad.mit.edu	37	1	11155880	11155881	+	Frame_Shift_Ins	INS	-	-	T			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr1:11155880_11155881insT	ENST00000376936.4	-	3	355_356	c.306_307insA	c.(304-309)aaagtgfs	p.V103fs	EXOSC10_ENST00000544779.1_Frame_Shift_Ins_p.V103fs|EXOSC10_ENST00000304457.7_Frame_Shift_Ins_p.V103fs	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	103					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		AGCTCAGTCACTTTACTTCGAT	0.381																																					Colon(179;105 1987 14326 27364 29542)	ENST00000544779.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(304-309)aaagtgfs		exosome component 10																																				SO:0001589	frameshift_variant	5394				CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding	g.chr1:11155880_11155881insT	BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 2 (100kD)"""	605960	"""polymyositis/scleroderma autoantigen 2, 100kDa"""	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.307dupA	1.37:g.11155883_11155883dupT	ENSP00000366135:p.Val103fs					EXOSC10_ENST00000376936.4_Frame_Shift_Ins_p.V103fs|EXOSC10_ENST00000304457.7_Frame_Shift_Ins_p.V103fs	p.V103fs			Q01780	EXOSX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)	3	311_312	-	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	103					B1AKQ0|B1AKQ1|Q15158	Frame_Shift_Ins	INS	ENST00000376936.4	37	c.306_307insA	CCDS30584.1																																																																																				0.381	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006078.1	NM_001001998		74	127	74	127	---	---	---	---
OR4P4	81300	broad.mit.edu	37	11	55405837	55405838	+	Frame_Shift_Ins	INS	-	-	A			TCGA-J4-A83I-01A-11D-A364-08	TCGA-J4-A83I-10B-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdeb9e4e-d715-4565-9cb4-40525a0575ad	13d07794-c0fa-4070-9dcd-9cee45840284	g.chr11:55405837_55405838insA	ENST00000314612.2	+	1	4_5	c.4_5insA	c.(4-6)gaafs	p.E2fs		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	2						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						CTGGACCATGGAAAAAAGCAAT	0.302																																						ENST00000314612.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						c.(4-6)gaafs		olfactory receptor, family 4, subfamily P, member 4																																				SO:0001589	frameshift_variant	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55405837_55405838insA	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"""GPCR / Class A : Olfactory receptors"""	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.10dupA	11.37:g.55405843_55405843dupA	ENSP00000324831:p.Glu2fs						p.E2fs	NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN			1	4_5	+			2						Frame_Shift_Ins	INS	ENST00000314612.2	37	c.4_5insA	CCDS31504.1																																																																																				0.302	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		61	28	61	28	---	---	---	---
