#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
WDR55	54853	broad.mit.edu	37	5	140048330	140048330	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr5:140048330G>A	ENST00000358337.5	+	4	751	c.514G>A	c.(514-516)Gca>Aca	p.A172T		NM_017706.4	NP_060176	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	172					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGTACATCGCAGACATGGC	0.542																																						ENST00000358337.5																			0				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9						c.(514-516)Gca>Aca		WD repeat domain 55							56.0	54.0	55.0					5																	140048330		2203	4300	6503	SO:0001583	missense	54853				rRNA processing	cytoplasm|nucleolus		g.chr5:140048330G>A	AK000202	CCDS4235.1	5q31.3	2013-01-09			ENSG00000120314	ENSG00000120314		"""WD repeat domain containing"""	25971	protein-coding gene	gene with protein product						12477932	Standard	NM_017706		Approved	FLJ20195, FLJ21702	uc003lgr.4	Q9H6Y2	OTTHUMG00000129506	ENST00000358337.5:c.514G>A	5.37:g.140048330G>A	ENSP00000351100:p.Ala172Thr						p.A172T	NM_017706.4	NP_060176.2	Q9H6Y2	WDR55_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	751	+			172					Q9NXK4	Missense_Mutation	SNP	ENST00000358337.5	37	c.514G>A	CCDS4235.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.558768	0.45590	.	.	ENSG00000120314	ENST00000358337	T	0.24908	1.83	5.24	4.37	0.52481	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.071793	0.08080	U	1.000000	T	0.12944	0.0314	N	0.11284	0.12	0.34264	D	0.680209	B;B	0.33777	0.066;0.425	B;B	0.28784	0.029;0.094	T	0.18713	-1.0328	10	0.21014	T	0.42	-6.7029	7.3786	0.26843	0.2575:0.0:0.7425:0.0	.	11;172	G3V1J0;Q9H6Y2	.;WDR55_HUMAN	T	172	ENSP00000351100:A172T	ENSP00000351100:A172T	A	+	1	0	WDR55	140028514	1.000000	0.71417	0.595000	0.28798	0.920000	0.55202	5.563000	0.67352	1.203000	0.43233	0.467000	0.42956	GCA		0.542	WDR55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251680.3	NM_017706		26	81	0	0	0	1	0	26	81				
CUL4B	8450	broad.mit.edu	37	X	119678007	119678007	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chrX:119678007A>G	ENST00000404115.3	-	9	1590	c.1189T>C	c.(1189-1191)Tat>Cat	p.Y397H	CUL4B_ENST00000336592.6_Missense_Mutation_p.Y384H|CUL4B_ENST00000371322.5_Missense_Mutation_p.Y379H|snoU13_ENST00000605987.1_RNA	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	397					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TCAGCTGCATAGAGCCGGTTA	0.333																																						ENST00000371322.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1135-1137)Tat>Cat		cullin 4B							84.0	69.0	74.0					X																	119678007		2202	4300	6502	SO:0001583	missense	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119678007A>G	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.1189T>C	X.37:g.119678007A>G	ENSP00000384109:p.Tyr397His					CUL4B_ENST00000336592.6_Missense_Mutation_p.Y384H|CUL4B_ENST00000404115.3_Missense_Mutation_p.Y397H	p.Y379H	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN			7	1196	-			397					B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Missense_Mutation	SNP	ENST00000404115.3	37	c.1135T>C	CCDS35379.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.283083	0.80803	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115;ENST00000371323	D;D;D;D	0.91295	-2.82;-2.82;-2.82;-2.82	5.74	5.74	0.90152	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.97161	0.9072	H	0.98238	4.18	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98389	1.0562	9	.	.	.	-11.7551	14.1069	0.65096	1.0:0.0:0.0:0.0	.	201;397;379	Q13620-3;Q13620;Q13620-1	.;CUL4B_HUMAN;.	H	379;384;397;201	ENSP00000360373:Y379H;ENSP00000338919:Y384H;ENSP00000384109:Y397H;ENSP00000360374:Y201H	.	Y	-	1	0	CUL4B	119562035	1.000000	0.71417	0.858000	0.33744	0.991000	0.79684	9.261000	0.95576	1.930000	0.55929	0.486000	0.48141	TAT		0.333	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		32	131	0	0	0	1	0	32	131				
CKAP2	26586	broad.mit.edu	37	13	53035286	53035286	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr13:53035286A>G	ENST00000378037.5	+	4	418	c.328A>G	c.(328-330)Acc>Gcc	p.T110A	CKAP2_ENST00000490903.1_Missense_Mutation_p.T61A|CKAP2_ENST00000258607.5_Missense_Mutation_p.T109A|CKAP2_ENST00000378034.3_Missense_Mutation_p.T109A	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3			cytoskeleton associated protein 2											breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		AAATGAACTAACCAATTCAAC	0.358																																						ENST00000378037.5																			0				breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20						c.(328-330)Acc>Gcc		cytoskeleton associated protein 2							88.0	94.0	92.0					13																	53035286		2203	4300	6503	SO:0001583	missense	0				apoptosis|cell cycle	centrosome|microtubule|spindle pole		g.chr13:53035286A>G	AF177227	CCDS9435.1, CCDS41893.1, CCDS66557.1, CCDS73578.1	13q14	2014-03-21			ENSG00000136108	ENSG00000136108			1990	protein-coding gene	gene with protein product		611569				9771967	Standard	XM_005266343		Approved	LB1, FLJ10749, se20-10, TMAP	uc001vgv.2	Q8WWK9	OTTHUMG00000016967	ENST00000378037.5:c.328A>G	13.37:g.53035286A>G	ENSP00000367276:p.Thr110Ala					CKAP2_ENST00000258607.5_Missense_Mutation_p.T109A|CKAP2_ENST00000490903.1_Missense_Mutation_p.T61A|CKAP2_ENST00000378034.3_Missense_Mutation_p.T109A	p.T110A	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3	Q8WWK9	CKAP2_HUMAN		GBM - Glioblastoma multiforme(99;2.6e-08)	4	418	+		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	110						Missense_Mutation	SNP	ENST00000378037.5	37	c.328A>G	CCDS41893.1	.	.	.	.	.	.	.	.	.	.	.	11.81	1.748221	0.30955	.	.	ENSG00000136108	ENST00000398044;ENST00000468284;ENST00000258607;ENST00000378034;ENST00000378037;ENST00000490903;ENST00000480747	T;T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32;1.32	5.45	1.56	0.23342	.	0.566563	0.18090	N	0.152001	T	0.29850	0.0746	L	0.50333	1.59	0.24273	N	0.995232	B;B;B;B	0.24043	0.037;0.037;0.096;0.037	B;B;B;B	0.25614	0.024;0.024;0.062;0.039	T	0.21449	-1.0245	10	0.49607	T	0.09	-0.0173	7.3576	0.26727	0.7405:0.0:0.2595:0.0	.	61;110;109;110	E9PD90;Q8WWK9;B2RMQ4;A8MYU4	.;CKAP2_HUMAN;.;.	A	110;27;109;109;110;61;62	ENSP00000418431:T27A;ENSP00000258607:T109A;ENSP00000367273:T109A;ENSP00000367276:T110A;ENSP00000417830:T61A;ENSP00000418224:T62A	ENSP00000258607:T109A	T	+	1	0	CKAP2	51933287	0.075000	0.21258	0.724000	0.30704	0.878000	0.50629	0.672000	0.25187	0.044000	0.15775	-0.290000	0.09829	ACC		0.358	CKAP2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355010.2			8	202	0	0	0	1	0	8	202				
IRF2	3660	broad.mit.edu	37	4	185310135	185310135	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr4:185310135C>T	ENST00000393593.3	-	9	1034	c.827G>A	c.(826-828)gGc>gAc	p.G276D		NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	276					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G276D(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		GGACGCCATGCCGGGCAGCAG	0.552																																						ENST00000393593.3																			1	Substitution - Missense(1)	p.G276D(1)	kidney(1)	cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22						c.(826-828)gGc>gAc		interferon regulatory factor 2							191.0	166.0	174.0					4																	185310135		2203	4300	6503	SO:0001583	missense	3660				blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr4:185310135C>T		CCDS3835.1	4q34.1-q35.1	2008-07-29				ENSG00000168310			6117	protein-coding gene	gene with protein product		147576				2475256	Standard	NM_002199		Approved		uc003iwf.4	P14316		ENST00000393593.3:c.827G>A	4.37:g.185310135C>T	ENSP00000377218:p.Gly276Asp						p.G276D	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)	9	1034	-		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)	276					D6RCK5|H0Y8S3|Q6IAS7|Q96B99	Missense_Mutation	SNP	ENST00000393593.3	37	c.827G>A	CCDS3835.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056443	0.36277	.	.	ENSG00000168310	ENST00000393593	D	0.98178	-4.77	5.32	5.32	0.75619	.	0.350840	0.35235	N	0.003358	D	0.95487	0.8534	L	0.32530	0.975	0.41310	D	0.987106	P	0.47191	0.891	B	0.37387	0.248	D	0.94793	0.7964	10	0.25751	T	0.34	-14.1921	19.1941	0.93679	0.0:1.0:0.0:0.0	.	276	P14316	IRF2_HUMAN	D	276	ENSP00000377218:G276D	ENSP00000377218:G276D	G	-	2	0	IRF2	185547129	1.000000	0.71417	0.979000	0.43373	0.027000	0.11550	4.461000	0.60115	2.774000	0.95407	0.561000	0.74099	GGC		0.552	IRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361393.1			5	283	0	0	0	1	0	5	283				
MUC4	4585	broad.mit.edu	37	3	195513519	195513519	+	Silent	SNP	A	A	T	rs201585392	byFrequency	TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr3:195513519A>T	ENST00000463781.3	-	2	5391	c.4932T>A	c.(4930-4932)ggT>ggA	p.G1644G	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.G1644G|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.N1637_T1652delNASSLSTGHATPLHVT(2)|p.G1644G(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGGTGGCGTGACCTGTGGATA	0.587																																						ENST00000463781.3																			3	Deletion - In frame(2)|Substitution - coding silent(1)	p.N1637_T1652delNASSLSTGHATPLHVT(2)|p.G1644G(1)	stomach(2)|endometrium(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(4930-4932)ggT>ggA		mucin 4, cell surface associated							30.0	37.0	35.0					3																	195513519		690	1580	2270	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195513519A>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.4932T>A	3.37:g.195513519A>T						MUC4_ENST00000475231.1_Silent_p.G1644G|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	p.G1644G	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	5391	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	428			VWFD.		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	c.4932T>A	CCDS54700.1																																																																																				0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	6	0	0	0	1	0	3	6				
FTSJ1	24140	broad.mit.edu	37	X	48337016	48337016	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chrX:48337016C>T	ENST00000348411.2	+	4	526	c.203C>T	c.(202-204)tCc>tTc	p.S68F	FTSJ1_ENST00000019019.2_Missense_Mutation_p.S68F|FTSJ1_ENST00000396894.4_Intron|FTSJ1_ENST00000456787.1_Missense_Mutation_p.S68F	NM_012280.2	NP_036412.1			FtsJ RNA methyltransferase homolog 1 (E. coli)											breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						GGCCAAGGGTCCGGCCACGTG	0.657																																						ENST00000019019.2																			0				breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						c.(202-204)tCc>tTc		FtsJ RNA methyltransferase homolog 1 (E. coli)							37.0	30.0	32.0					X																	48337016		2203	4298	6501	SO:0001583	missense	24140				RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding	g.chrX:48337016C>T	AJ005892	CCDS14294.1, CCDS14295.1, CCDS75972.1	Xp11.23	2012-06-12	2012-06-12		ENSG00000068438	ENSG00000068438			13254	protein-coding gene	gene with protein product	"""tRNA methyltransferase 7 homolog (S. cerevisiae)"""	300499	"""mental retardation, X-linked 9"", ""mental retardation, X-linked 44"""	MRX9, MRX44		15342698, 15162322	Standard	XR_246715		Approved	JM23, CDLIV, SPB1, TRM7, TRMT7	uc004djo.1	Q9UET6	OTTHUMG00000024118	ENST00000348411.2:c.203C>T	X.37:g.48337016C>T	ENSP00000326948:p.Ser68Phe					FTSJ1_ENST00000348411.2_Missense_Mutation_p.S68F|FTSJ1_ENST00000396894.4_Intron|FTSJ1_ENST00000456787.1_Missense_Mutation_p.S68F	p.S68F	NM_177439.1	NP_803188.1	Q9UET6	RRMJ1_HUMAN			5	632	+			68						Missense_Mutation	SNP	ENST00000348411.2	37	c.203C>T	CCDS14294.1	.	.	.	.	.	.	.	.	.	.	c	12.02	1.813646	0.32053	.	.	ENSG00000068438	ENST00000019019;ENST00000348411;ENST00000456787	T;T;T	0.46819	0.86;0.86;0.86	4.23	3.35	0.38373	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.940557	0.09003	N	0.862658	T	0.54695	0.1874	M	0.69185	2.1	0.09310	N	0.999998	B;P;B	0.37061	0.102;0.58;0.064	B;B;B	0.43916	0.319;0.402;0.436	T	0.48592	-0.9022	10	0.59425	D	0.04	.	10.4951	0.44772	0.0:0.627:0.373:0.0	.	68;68;68	Q9UET6;Q9UET6-2;B3KN91	RRMJ1_HUMAN;.;.	F	68	ENSP00000019019:S68F;ENSP00000326948:S68F;ENSP00000415457:S68F	ENSP00000019019:S68F	S	+	2	0	FTSJ1	48221960	0.000000	0.05858	0.002000	0.10522	0.414000	0.31173	0.800000	0.27042	0.887000	0.36136	-0.480000	0.04831	TCC		0.657	FTSJ1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060726.1			11	41	0	0	0	1	0	11	41				
ZCCHC5	203430	broad.mit.edu	37	X	77913570	77913570	+	Silent	SNP	C	C	T	rs139493021	byFrequency	TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chrX:77913570C>T	ENST00000321110.1	-	2	643	c.348G>A	c.(346-348)gcG>gcA	p.A116A		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	116	Pro-rich.						nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.A116A(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TTGCTGGAGGCGCCAGGGACT	0.632													C|||	1	0.000264901	0.0	0.0	3775	,	,		10029	0.0		0.001	False		,,,				2504	0.0					ENST00000321110.1																			2	Substitution - coding silent(2)	p.A116A(2)	large_intestine(1)|breast(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						c.(346-348)gcG>gcA		zinc finger, CCHC domain containing 5		C		1,3834		0,1,0,1631,571	25.0	27.0	27.0		348	-0.9	0.0	X	dbSNP_134	27	9,6715		0,6,3,2422,1865	no	coding-synonymous	ZCCHC5	NM_152694.2		0,7,3,4053,2436	TT,TC,T,CC,C		0.1338,0.0261,0.0947		116/476	77913570	10,10549	2203	4296	6499	SO:0001819	synonymous_variant	203430						nucleic acid binding|zinc ion binding	g.chrX:77913570C>T	AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"""Zinc fingers, CCHC domain containing"""	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.348G>A	X.37:g.77913570C>T							p.A116A	NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN			2	643	-			116			Pro-rich.		B2RMZ0|Q5JQE9	Silent	SNP	ENST00000321110.1	37	c.348G>A	CCDS14440.1																																																																																				0.632	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1	NM_152694		21	62	0	0	0	1	0	21	62				
FRAS1	80144	broad.mit.edu	37	4	79387504	79387504	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr4:79387504G>A	ENST00000264895.6	+	50	7612	c.7172G>A	c.(7171-7173)gGc>gAc	p.G2391D		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2391					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AGCCATGACGGCAGTAACTCC	0.532																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(7171-7173)gGc>gAc		Fraser syndrome 1							77.0	80.0	79.0					4																	79387504		2129	4236	6365	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79387504G>A	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.7172G>A	4.37:g.79387504G>A	ENSP00000264895:p.Gly2391Asp						p.G2391D	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			50	7612	+			2390					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.7172G>A	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.005116	0.93287	.	.	ENSG00000138759	ENST00000264895	T	0.11385	2.78	5.53	5.53	0.82687	.	0.297141	0.36665	N	0.002479	T	0.28200	0.0696	M	0.64404	1.975	0.80722	D	1	D	0.58620	0.983	P	0.56563	0.801	T	0.00274	-1.1857	10	0.72032	D	0.01	.	19.8265	0.96619	0.0:0.0:1.0:0.0	.	2391	E9PHH6	.	D	2391	ENSP00000264895:G2391D	ENSP00000264895:G2391D	G	+	2	0	FRAS1	79606528	1.000000	0.71417	0.996000	0.52242	0.732000	0.41865	9.539000	0.98076	2.769000	0.95229	0.585000	0.79938	GGC		0.532	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				18	63	0	0	0	1	0	18	63				
WBSCR22	114049	broad.mit.edu	37	7	73098135	73098135	+	Splice_Site	SNP	G	G	A	rs111971609		TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr7:73098135G>A	ENST00000265758.2	+	2	144		c.e2+1		WBSCR22_ENST00000423497.1_Splice_Site|DNAJC30_ENST00000395176.2_5'Flank|WBSCR22_ENST00000423166.2_Missense_Mutation_p.S20N|WBSCR22_ENST00000464615.1_Intron	NM_017528.4	NP_059998.2	O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22						chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1)	13		Lung NSC(55;0.0908)|all_lung(88;0.198)				ACGTTCGCAAGTGAGGGGAGC	0.572																																						ENST00000423166.2																			0				autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1)	13						c.(58-60)aGt>aAt		Williams Beuren syndrome chromosome region 22							66.0	76.0	73.0					7																	73098135		2203	4300	6503	SO:0001630	splice_region_variant	114049					nucleus	methyltransferase activity	g.chr7:73098135G>A	AF420248	CCDS5557.1, CCDS56490.1	7q11.23	2012-06-12			ENSG00000071462	ENSG00000071462			16405	protein-coding gene	gene with protein product	"""metastasis-related methyltransferase 1"""	615733				12073013, 11978965, 21148752	Standard	NM_001202560		Approved	MGC19709, MGC2022, MGC5140, PP3381, WBMT, MERM1	uc003tyt.3	O43709	OTTHUMG00000023306	ENST00000265758.2:c.86+1G>A	7.37:g.73098135G>A						WBSCR22_ENST00000464615.1_Intron|WBSCR22_ENST00000265758.2_Splice_Site|WBSCR22_ENST00000423497.1_Splice_Site	p.S20N			O43709	WBS22_HUMAN			2	106	+		Lung NSC(55;0.0908)|all_lung(88;0.198)	0					A8K501|C9K060|Q96P12|Q9BQ58|Q9HBP9	Missense_Mutation	SNP	ENST00000265758.2	37	c.59G>A	CCDS5557.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.27|19.27	3.795171|3.795171	0.70452|0.70452	.|.	.|.	ENSG00000071462|ENSG00000071462	ENST00000265758;ENST00000423497|ENST00000423166	.|.	.|.	.|.	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	.|.	.|.	.|.	.|.	.|T	.|0.57621	.|0.2066	.|.	.|.	.|.	0.32074|0.32074	N|N	0.593971|0.593971	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.62497	.|-0.6842	.|4	.|.	.|.	.|.	.|1.0E-4	14.3144|14.3144	0.66437|0.66437	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	.|N	-1|20	.|.	.|.	.|S	+|+	.|2	.|0	WBSCR22|WBSCR22	72736071|72736071	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.618000|0.618000	0.37518|0.37518	7.318000|7.318000	0.79029|0.79029	2.756000|2.756000	0.94617|0.94617	0.563000|0.563000	0.77884|0.77884	.|AGT		0.572	WBSCR22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252303.1		Intron	6	275	0	0	0	1	0	6	275				
FCN1	2219	broad.mit.edu	37	9	137809638	137809638	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr9:137809638G>A	ENST00000371806.3	-	1	171	c.80C>T	c.(79-81)gCc>gTc	p.A27V		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	27					cell surface pattern recognition receptor signaling pathway (GO:0002752)|complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of interleukin-8 secretion (GO:2000484)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extrinsic component of external side of plasma membrane (GO:0031232)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|G-protein coupled receptor binding (GO:0001664)|signaling pattern recognition receptor activity (GO:0008329)			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		CGCAGCCTGGGCAGGCAGGTT	0.582																																						ENST00000371806.3																			0				endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(79-81)gCc>gTc		ficolin (collagen/fibrinogen domain containing) 1							87.0	81.0	83.0					9																	137809638		2203	4300	6503	SO:0001583	missense	2219				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding	g.chr9:137809638G>A	D83920	CCDS6985.1	9q34	2013-02-06	2002-01-14		ENSG00000085265	ENSG00000085265		"""Fibrinogen C domain containing"""	3623	protein-coding gene	gene with protein product		601252	"""ficolin (collagen/fibrinogen domain-containing) 1"""			8573080, 8884275	Standard	NM_002003		Approved	FCNM	uc004cfi.3	O00602	OTTHUMG00000020895	ENST00000371806.3:c.80C>T	9.37:g.137809638G>A	ENSP00000360871:p.Ala27Val						p.A27V	NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)	1	171	-		Myeloproliferative disorder(178;0.0333)	27					Q5VYV5|Q92596	Missense_Mutation	SNP	ENST00000371806.3	37	c.80C>T	CCDS6985.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.337701	0.41398	.	.	ENSG00000085265	ENST00000371807;ENST00000371806;ENST00000308299	D	0.82893	-1.66	4.14	0.331	0.15933	.	.	.	.	.	T	0.72867	0.3514	L	0.48362	1.52	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.54125	-0.8340	9	0.16896	T	0.51	.	7.0234	0.24926	0.4337:0.0:0.5663:0.0	.	27	O00602	FCN1_HUMAN	V	27	ENSP00000360871:A27V	ENSP00000308877:A27V	A	-	2	0	FCN1	136949459	0.034000	0.19679	0.022000	0.16811	0.741000	0.42261	0.064000	0.14437	0.105000	0.17753	0.579000	0.79373	GCC		0.582	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054963.1	NM_002003		32	88	0	0	0	1	0	32	88				
FITM1	161247	broad.mit.edu	37	14	24600895	24600895	+	Silent	SNP	A	A	G			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr14:24600895A>G	ENST00000267426.5	+	1	412	c.123A>G	c.(121-123)gaA>gaG	p.E41E	FITM1_ENST00000559294.1_5'Flank|RP11-468E2.6_ENST00000558325.1_Missense_Mutation_p.T229A	NM_203402.2	NP_981947.1	A5D6W6	FITM1_HUMAN	fat storage-inducing transmembrane protein 1	41					lipid particle organization (GO:0034389)|positive regulation of sequestering of triglyceride (GO:0010890)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						TTGGAAGCGAACAGGCCGCCC	0.657																																						ENST00000558325.1																			0											c.(685-687)Aca>Gca									44.0	47.0	46.0					14																	24600895		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr14:24600895A>G		CCDS9611.1	14q12	2009-07-09			ENSG00000139914	ENSG00000139914			33714	protein-coding gene	gene with protein product	"""fat-inducing transcript 1"""	612028				18160536	Standard	NM_203402		Approved	FIT1	uc001wmf.2	A5D6W6	OTTHUMG00000133476	ENST00000267426.5:c.123A>G	14.37:g.24600895A>G						FITM1_ENST00000267426.5_Silent_p.E41E	p.229_229insA							3	685	+								Q8IUQ7	Missense_Mutation	SNP	ENST00000267426.5	37	c.685A>G	CCDS9611.1																																																																																				0.657	FITM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257366.1	NM_203402		24	77	0	0	0	1	0	24	77				
ENTPD7	57089	broad.mit.edu	37	10	101458364	101458364	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr10:101458364G>A	ENST00000370489.4	+	10	1262	c.1084G>A	c.(1084-1086)Gat>Aat	p.D362N		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	362						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		GGGACTCACAGATGTGGTGGA	0.537																																						ENST00000370489.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18						c.(1084-1086)Gat>Aat		ectonucleoside triphosphate diphosphohydrolase 7							105.0	94.0	98.0					10																	101458364		2203	4300	6503	SO:0001583	missense	57089					cytoplasmic vesicle membrane|integral to membrane	hydrolase activity	g.chr10:101458364G>A	AF269255	CCDS7480.1	10q23-q24	2004-07-01			ENSG00000198018	ENSG00000198018			19745	protein-coding gene	gene with protein product						11278936	Standard	NM_020354		Approved	LALP1, FLJ30978	uc001kqa.4	Q9NQZ7	OTTHUMG00000018888	ENST00000370489.4:c.1084G>A	10.37:g.101458364G>A	ENSP00000359520:p.Asp362Asn						p.D362N	NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)	10	1262	+		Colorectal(252;0.234)	362					B2RB83|B3KP21|D3DR64	Missense_Mutation	SNP	ENST00000370489.4	37	c.1084G>A	CCDS7480.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181217	0.78677	.	.	ENSG00000198018	ENST00000370489	T	0.11063	2.81	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.31734	0.0806	M	0.76838	2.35	0.54753	D	0.999985	D	0.67145	0.996	D	0.66497	0.944	T	0.05289	-1.0894	10	0.18710	T	0.47	-20.0169	17.9903	0.89166	0.0:0.0:1.0:0.0	.	362	Q9NQZ7	ENTP7_HUMAN	N	362	ENSP00000359520:D362N	ENSP00000359520:D362N	D	+	1	0	ENTPD7	101448354	1.000000	0.71417	0.971000	0.41717	0.951000	0.60555	9.552000	0.98115	2.583000	0.87209	0.655000	0.94253	GAT		0.537	ENTPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049809.2	NM_020354		26	105	0	0	0	1	0	26	105				
INPP5K	51763	broad.mit.edu	37	17	1401275	1401275	+	Silent	SNP	G	G	A			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr17:1401275G>A	ENST00000421807.2	-	8	1306	c.918C>T	c.(916-918)taC>taT	p.Y306Y	INPP5K_ENST00000406424.4_Silent_p.Y230Y|INPP5K_ENST00000397335.3_Silent_p.Y214Y|INPP5K_ENST00000320345.6_Silent_p.Y230Y|INPP5K_ENST00000542125.1_Silent_p.Y210Y	NM_016532.3	NP_057616.2	Q9BT40	INP5K_HUMAN	inositol polyphosphate-5-phosphatase K	306	Catalytic. {ECO:0000255}.				actin cytoskeleton organization (GO:0030036)|cellular response to cAMP (GO:0071320)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hormone stimulus (GO:0032870)|cellular response to insulin stimulus (GO:0032869)|cellular response to tumor necrosis factor (GO:0071356)|dephosphorylation (GO:0016311)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inositol phosphate dephosphorylation (GO:0046855)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of dephosphorylation (GO:0035305)|negative regulation of glucose transport (GO:0010829)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of stress fiber assembly (GO:0051497)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of renal water transport (GO:2001153)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|protein targeting to plasma membrane (GO:0072661)|regulation of glycogen biosynthetic process (GO:0005979)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	inositol bisphosphate phosphatase activity (GO:0016312)|inositol trisphosphate phosphatase activity (GO:0046030)|inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|lipid phosphatase activity (GO:0042577)|phosphatidylinositol phosphate 5-phosphatase activity (GO:0034595)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)|vasopressin receptor activity (GO:0005000)			endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						CGCTGATGCCGTACGTCATGT	0.607																																						ENST00000406424.4																			0				endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						c.(688-690)taC>taT		inositol polyphosphate-5-phosphatase K							153.0	135.0	141.0					17																	1401275		2203	4300	6503	SO:0001819	synonymous_variant	51763				actin cytoskeleton organization	cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding	g.chr17:1401275G>A		CCDS11004.1, CCDS11005.1	17p13.3	2008-09-09			ENSG00000132376	ENSG00000132376			33882	protein-coding gene	gene with protein product	"""skeletal muscle and kidney enriched inositol phosphatase"""	607875				10753883, 12536145	Standard	NM_016532		Approved	SKIP	uc002fsr.3	Q9BT40	OTTHUMG00000150648	ENST00000421807.2:c.918C>T	17.37:g.1401275G>A						INPP5K_ENST00000320345.6_Silent_p.Y230Y|INPP5K_ENST00000542125.1_Silent_p.Y210Y|INPP5K_ENST00000421807.2_Silent_p.Y306Y|INPP5K_ENST00000397335.3_Silent_p.Y214Y	p.Y230Y	NM_001135642.1	NP_001129114.1	Q9BT40	INP5K_HUMAN			10	1550	-			306			Catalytic (Potential).		B2R6I2|B2R750|D3DTH8|Q15733|Q9NPJ5|Q9P2R5	Silent	SNP	ENST00000421807.2	37	c.690C>T	CCDS11004.1																																																																																				0.607	INPP5K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319381.4			5	367	0	0	0	1	0	5	367				
EGFR	1956	broad.mit.edu	37	7	55260505	55260505	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr7:55260505A>G	ENST00000275493.2	+	22	2849	c.2672A>G	c.(2671-2673)tAt>tGt	p.Y891C	EGFR_ENST00000454757.2_Missense_Mutation_p.Y838C|EGFR_ENST00000455089.1_Missense_Mutation_p.Y846C|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	891	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CACAGAATCTATACCCACCAG	0.428		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		0				NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(2671-2673)tAt>tGt		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						131.0	117.0	122.0					7																	55260505		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55260505A>G		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2672A>G	7.37:g.55260505A>G	ENSP00000275493:p.Tyr891Cys	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.Y838C|EGFR_ENST00000455089.1_Missense_Mutation_p.Y846C	p.Y891C	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		22	2849	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		891			Protein kinase.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.2672A>G	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	A	14.96	2.690466	0.48097	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	T;T;T	0.68479	-0.33;-0.33;-0.33	5.9	5.9	0.94986	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.82536	0.5058	M	0.80616	2.505	0.54753	D	0.999986	D;D	0.89917	1.0;1.0	D;D	0.91635	0.992;0.999	D	0.84996	0.0897	10	0.87932	D	0	.	15.1436	0.72630	1.0:0.0:0.0:0.0	.	846;891	Q504U8;P00533	.;EGFR_HUMAN	C	846;761;891;838	ENSP00000415559:Y846C;ENSP00000275493:Y891C;ENSP00000395243:Y838C	ENSP00000275493:Y891C	Y	+	2	0	EGFR	55227999	1.000000	0.71417	1.000000	0.80357	0.222000	0.24845	4.769000	0.62300	2.248000	0.74166	0.459000	0.35465	TAT		0.428	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		26	99	0	0	0	1	0	26	99				
CSMD3	114788	broad.mit.edu	37	8	113420579	113420579	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr8:113420579A>G	ENST00000297405.5	-	34	5817	c.5573T>C	c.(5572-5574)aTa>aCa	p.I1858T	CSMD3_ENST00000343508.3_Missense_Mutation_p.I1818T|CSMD3_ENST00000455883.2_Missense_Mutation_p.I1754T|CSMD3_ENST00000352409.3_Intron	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1858	CUB 10. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTTAGCTGTTATTGGTCCAAC	0.348										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(5572-5574)aTa>aCa		CUB and Sushi multiple domains 3							176.0	173.0	174.0					8																	113420579		2203	4299	6502	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113420579A>G	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.5573T>C	8.37:g.113420579A>G	ENSP00000297405:p.Ile1858Thr	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.I1818T|CSMD3_ENST00000455883.2_Missense_Mutation_p.I1754T|CSMD3_ENST00000352409.3_Intron	p.I1858T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			34	5817	-			1858			CUB 10.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.5573T>C	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	11.12	1.545176	0.27652	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883	T;T;T	0.59638	0.25;0.25;0.25	4.71	4.71	0.59529	CUB (5);	0.136721	0.49916	D	0.000122	T	0.42675	0.1213	N	0.16201	0.385	0.80722	D	1	B;B;B	0.28783	0.222;0.123;0.001	B;B;B	0.32624	0.149;0.102;0.004	T	0.36407	-0.9749	10	0.30854	T	0.27	.	14.6511	0.68797	1.0:0.0:0.0:0.0	.	1754;1858;1818	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	T	1818;1858;1754	ENSP00000345799:I1818T;ENSP00000297405:I1858T;ENSP00000412263:I1754T	ENSP00000297405:I1858T	I	-	2	0	CSMD3	113489755	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.686000	0.61700	2.103000	0.63969	0.482000	0.46254	ATA		0.348	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		62	203	0	0	0	1	0	62	203				
ARRDC2	27106	broad.mit.edu	37	19	18119539	18119539	+	Silent	SNP	G	G	A			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr19:18119539G>A	ENST00000222250.4	+	2	437	c.294G>A	c.(292-294)acG>acA	p.T98T	ARRDC2_ENST00000379656.3_Silent_p.T93T|ARRDC2_ENST00000608009.1_3'UTR	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2	98					signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						AGACCACGACGCTGCCTCCTG	0.642																																						ENST00000222250.4																			0				endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						c.(292-294)acG>acA		arrestin domain containing 2							68.0	70.0	69.0					19																	18119539		2203	4300	6503	SO:0001819	synonymous_variant	27106							g.chr19:18119539G>A		CCDS12370.1, CCDS32956.1	19p13.12	2008-02-05				ENSG00000105643			25225	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015683		Approved	CLONE24945, PP2703	uc002nhv.3	Q8TBH0		ENST00000222250.4:c.294G>A	19.37:g.18119539G>A						ARRDC2_ENST00000379656.2_Silent_p.T93T|ARRDC2_ENST00000595712.1_3'UTR	p.T98T	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN			2	437	+			98					B2RBG9|O95895|Q6ZRV9|Q8WYG6	Silent	SNP	ENST00000222250.4	37	c.294G>A	CCDS12370.1																																																																																				0.642	ARRDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466845.1	NM_015683		30	114	0	0	0	1	0	30	114				
PIK3CA	5290	broad.mit.edu	37	3	178927980	178927980	+	Missense_Mutation	SNP	T	T	C	rs121913272		TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr3:178927980T>C	ENST00000263967.3	+	8	1415	c.1258T>C	c.(1258-1260)Tgt>Cgt	p.C420R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	420	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.		C -> R (in CLOVE and CRC; shows an increase in lipid kinase activity; may increase the affinity for lipid membranes). {ECO:0000269|PubMed:22658544}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.C420R(40)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TAAGGAACACTGTCCATTGGC	0.328	C420R(CCK81_LARGE_INTESTINE)|C420R(EFM192A_BREAST)|C420R(HEC151_ENDOMETRIUM)|C420R(OVISE_OVARY)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	C420R(CCK81_LARGE_INTESTINE)|C420R(EFM192A_BREAST)|C420R(HEC151_ENDOMETRIUM)|C420R(OVISE_OVARY)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		40	Substitution - Missense(40)	p.C420R(40)	breast(15)|large_intestine(10)|endometrium(7)|central_nervous_system(2)|lung(2)|prostate(2)|stomach(1)|NS(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1258-1260)Tgt>Cgt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							85.0	80.0	82.0					3																	178927980		1822	4078	5900	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178927980T>C		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1258T>C	3.37:g.178927980T>C	ENSP00000263967:p.Cys420Arg	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.C420R	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		8	1415	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		420		C -> R (in cancer; shows an increase in lipid kinase activity; may increase the affinity for lipid membranes).	C2 PI3K-type.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1258T>C	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	T	19.97	3.925687	0.73213	.	.	ENSG00000121879	ENST00000263967	T	0.68903	-0.36	5.51	5.51	0.81932	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (2);	0.000000	0.85682	D	0.000000	T	0.76856	0.4046	M	0.61703	1.905	0.80722	D	1	D	0.69078	0.997	P	0.62885	0.908	T	0.74284	-0.3715	10	0.25751	T	0.34	-11.2314	15.6207	0.76805	0.0:0.0:0.0:1.0	.	420	P42336	PK3CA_HUMAN	R	420	ENSP00000263967:C420R	ENSP00000263967:C420R	C	+	1	0	PIK3CA	180410674	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	7.698000	0.84413	2.105000	0.64084	0.460000	0.39030	TGT		0.328	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			35	122	0	0	0	1	0	35	122				
CCDC176	80127	broad.mit.edu	37	14	74516767	74516767	+	Silent	SNP	A	A	G			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr14:74516767A>G	ENST00000394009.3	+	8	1278	c.1155A>G	c.(1153-1155)gcA>gcG	p.A385A	AC005484.5_ENST00000492026.1_RNA|CCDC176_ENST00000553773.1_Silent_p.A110A	NM_025057.2	NP_079333.2	Q8ND07	BBOF1_HUMAN	coiled-coil domain containing 176	385					motile cilium assembly (GO:0044458)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)											AGCAGATAGCACAAGCTGCTT	0.398																																						ENST00000394009.3																			0											c.(1153-1155)gcA>gcG		coiled-coil domain containing 176							75.0	74.0	74.0					14																	74516767		2203	4300	6503	SO:0001819	synonymous_variant	80127							g.chr14:74516767A>G	BI457605	CCDS32119.2	14q24.3	2013-01-04	2012-09-25	2012-09-25	ENSG00000119636	ENSG00000119636			19855	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 45"""	C14orf45			Standard	NM_025057		Approved		uc010tup.2	Q8ND07	OTTHUMG00000152786	ENST00000394009.3:c.1155A>G	14.37:g.74516767A>G						CCDC176_ENST00000553773.1_Silent_p.A110A|AC005484.5_ENST00000492026.1_RNA	p.A385A	NM_025057.2	NP_079333.2					8	1278	+								Q0P604|Q9H5P8	Silent	SNP	ENST00000394009.3	37	c.1155A>G	CCDS32119.2																																																																																				0.398	CCDC176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327863.1	NM_025057		30	116	0	0	0	1	0	30	116				
LINGO2	158038	broad.mit.edu	37	9	27949432	27949432	+	Missense_Mutation	SNP	C	C	T	rs201950549		TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr9:27949432C>T	ENST00000379992.2	-	6	1687	c.1238G>A	c.(1237-1239)cGt>cAt	p.R413H	LINGO2_ENST00000308675.3_Missense_Mutation_p.R413H	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	413	Ig-like C2-type.					integral component of membrane (GO:0016021)		p.R413H(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CTTCTTTTCACGGATTTTGGG	0.488																																						ENST00000379992.2																			2	Substitution - Missense(2)	p.R413H(2)	large_intestine(2)	autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1237-1239)cGt>cAt		leucine rich repeat and Ig domain containing 2		C	HIS/ARG	0,4406		0,0,2203	99.0	93.0	95.0		1238	6.2	1.0	9		95	1,8599	1.2+/-3.3	0,1,4299	no	missense	LINGO2	NM_152570.1	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	413/607	27949432	1,13005	2203	4300	6503	SO:0001583	missense	158038					integral to membrane		g.chr9:27949432C>T	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.1238G>A	9.37:g.27949432C>T	ENSP00000369328:p.Arg413His					LINGO2_ENST00000308675.3_Missense_Mutation_p.R413H	p.R413H	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	6	1687	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	413			Ig-like C2-type.		A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	ENST00000379992.2	37	c.1238G>A	CCDS6524.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.671219	0.29693	0.0	1.16E-4	ENSG00000174482	ENST00000379992;ENST00000308675	D;D	0.96011	-3.88;-3.88	6.16	6.16	0.99307	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.058147	0.64402	D	0.000001	D	0.91310	0.7260	L	0.38175	1.15	0.58432	D	0.999994	B	0.13145	0.007	B	0.08055	0.003	D	0.85491	0.1185	9	.	.	.	.	11.6865	0.51490	0.0:0.8957:0.0:0.1043	.	413	Q7L985	LIGO2_HUMAN	H	413	ENSP00000369328:R413H;ENSP00000310126:R413H	.	R	-	2	0	LINGO2	27939432	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	4.024000	0.57218	2.937000	0.99478	0.650000	0.86243	CGT		0.488	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		41	156	0	0	0	1	0	41	156				
OR9Q1	219956	broad.mit.edu	37	11	57947730	57947730	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr11:57947730G>T	ENST00000335397.3	+	3	1130	c.814G>T	c.(814-816)Gta>Tta	p.V272L		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	272						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				GAAGAATCGGGTAGTGTCTGT	0.488																																						ENST00000335397.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(814-816)Gta>Tta		olfactory receptor, family 9, subfamily Q, member 1							142.0	118.0	126.0					11																	57947730		2201	4296	6497	SO:0001583	missense	219956				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57947730G>T	AB065734	CCDS31543.1	11q12.1	2012-08-09				ENSG00000186509		"""GPCR / Class A : Olfactory receptors"""	14724	protein-coding gene	gene with protein product							Standard	NM_001005212		Approved		uc001nmj.3	Q8NGQ5		ENST00000335397.3:c.814G>T	11.37:g.57947730G>T	ENSP00000334934:p.Val272Leu						p.V272L	NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN			3	1130	+		Breast(21;0.222)	272					Q2TAN3|Q96RA7	Missense_Mutation	SNP	ENST00000335397.3	37	c.814G>T	CCDS31543.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.391665	0.25118	.	.	ENSG00000186509	ENST00000335397	T	0.00249	8.44	4.67	3.75	0.43078	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41396	D	0.000886	T	0.00210	0.0006	L	0.33668	1.02	0.09310	N	0.999999	D	0.53619	0.961	P	0.53401	0.725	T	0.54091	-0.8345	10	0.59425	D	0.04	-19.2123	7.1463	0.25585	0.0842:0.0:0.6408:0.275	.	272	Q8NGQ5	OR9Q1_HUMAN	L	272	ENSP00000334934:V272L	ENSP00000334934:V272L	V	+	1	0	OR9Q1	57704306	0.000000	0.05858	0.767000	0.31495	0.007000	0.05969	0.095000	0.15127	1.320000	0.45209	0.484000	0.47621	GTA		0.488	OR9Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394538.2	NM_001005212		47	156	1	0	1.56793e-16	1	1.69042e-16	47	156				
CHEK2P2	646096	broad.mit.edu	37	15	20490515	20490515	+	RNA	SNP	G	G	T			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr15:20490515G>T	ENST00000555186.1	+	0	495					NR_038836.1				checkpoint kinase 2 pseudogene 2																		TCTGGACCTTGTCAAGAAGTT	0.438																																						ENST00000555186.1																			0																																																			0							g.chr15:20490515G>T			15q11.1	2011-11-11			ENSG00000259156	ENSG00000259156			43578	pseudogene	pseudogene							Standard	NR_038836		Approved		uc001ytf.1		OTTHUMG00000171660		15.37:g.20490515G>T								NR_038836.1						0	495	+									RNA	SNP	ENST00000555186.1	37																																																																																						0.438	CHEK2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000414654.1	NR_038836		53	604	1	0	1.82294e-38	1	1.99655e-38	53	604				
SCN3A	6328	broad.mit.edu	37	2	165953004	165953004	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr2:165953004A>C	ENST00000360093.3	-	24	4757	c.4266T>G	c.(4264-4266)atT>atG	p.I1422M	SCN3A_ENST00000409101.3_Missense_Mutation_p.I1373M|SCN3A_ENST00000540861.1_5'Flank|SCN3A_ENST00000283254.7_Missense_Mutation_p.I1422M|SCN3A_ENST00000465043.1_5'Flank	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1422					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTGCATACATAATATCCATCC	0.299																																						ENST00000360093.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(4264-4266)atT>atG		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						90.0	91.0	90.0					2																	165953004		2202	4289	6491	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165953004A>C	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.4266T>G	2.37:g.165953004A>C	ENSP00000353206:p.Ile1422Met					SCN3A_ENST00000409101.3_Missense_Mutation_p.I1373M|SCN3A_ENST00000283254.7_Missense_Mutation_p.I1422M	p.I1422M	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			24	4757	-			1422					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.4266T>G		.	.	.	.	.	.	.	.	.	.	A	17.96	3.516654	0.64634	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101	D;D;D	0.97941	-4.62;-4.62;-4.62	5.37	2.87	0.33458	.	0.000000	0.85682	D	0.000000	D	0.98720	0.9570	M	0.94142	3.5	0.80722	D	1	P;P;D	0.89917	0.527;0.527;1.0	B;B;D	0.87578	0.299;0.299;0.998	D	0.97677	1.0170	10	0.87932	D	0	.	5.8619	0.18752	0.6734:0.0:0.07:0.2566	.	1373;1373;1422	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	M	1422;1422;1373	ENSP00000353206:I1422M;ENSP00000283254:I1422M;ENSP00000386726:I1373M	ENSP00000283254:I1422M	I	-	3	3	SCN3A	165661250	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.894000	0.28350	0.374000	0.24650	0.459000	0.35465	ATT		0.299	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		19	90	0	0	0	1	0	19	90				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			36	132	0	0	0	1	0	36	132				
TMEM225	338661	broad.mit.edu	37	11	123756083	123756083	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr11:123756083G>A	ENST00000375026.2	-	1	266	c.50C>T	c.(49-51)tCc>tTc	p.S17F		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	17					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						GGCCCAGGAGGAGAAAAGTAT	0.408																																						ENST00000375026.2																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						c.(49-51)tCc>tTc		transmembrane protein 225							101.0	93.0	95.0					11																	123756083		2202	4299	6501	SO:0001583	missense	338661					integral to membrane		g.chr11:123756083G>A	AY634366	CCDS31697.1	11q24.1	2014-06-13			ENSG00000204300	ENSG00000204300			32390	protein-coding gene	gene with protein product	"""PMP22 claudin domain containing"", ""protein phosphatase 1, regulatory subunit 154"""						Standard	XM_006718832		Approved	PMP22CD, PPP1R154	uc001pzi.3	Q6GV28	OTTHUMG00000165959	ENST00000375026.2:c.50C>T	11.37:g.123756083G>A	ENSP00000364166:p.Ser17Phe						p.S17F	NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN			1	266	-			17						Missense_Mutation	SNP	ENST00000375026.2	37	c.50C>T	CCDS31697.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.644468	0.67244	.	.	ENSG00000204300	ENST00000375026	T	0.43688	0.94	4.87	4.87	0.63330	.	0.141532	0.33477	N	0.004863	T	0.52500	0.1738	L	0.32530	0.975	0.33406	D	0.577974	D	0.89917	1.0	D	0.76575	0.988	T	0.63611	-0.6598	10	0.87932	D	0	-19.4395	13.6897	0.62537	0.0:0.0:1.0:0.0	.	17	Q6GV28	TM225_HUMAN	F	17	ENSP00000364166:S17F	ENSP00000364166:S17F	S	-	2	0	TMEM225	123261293	1.000000	0.71417	0.465000	0.27155	0.024000	0.10985	3.697000	0.54764	2.686000	0.91538	0.655000	0.94253	TCC		0.408	TMEM225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387260.1	NM_001013743		34	133	0	0	0	1	0	34	133				
SPERT	220082	broad.mit.edu	37	13	46276937	46276937	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr13:46276937A>G	ENST00000310521.1	+	2	183	c.103A>G	c.(103-105)Aga>Gga	p.R35G	SPERT_ENST00000378966.3_5'Flank	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	35						cytoplasmic membrane-bounded vesicle (GO:0016023)				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		TACAAGAAAAAGAGATACCAG	0.423																																						ENST00000310521.1																			0				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15						c.(103-105)Aga>Gga		spermatid associated							62.0	63.0	62.0					13																	46276937		2203	4300	6503	SO:0001583	missense	220082					cytoplasmic membrane-bounded vesicle		g.chr13:46276937A>G	AK093129	CCDS9399.1, CCDS66540.1	13q14.13	2010-03-23			ENSG00000174015	ENSG00000174015			30720	protein-coding gene	gene with protein product	"""spermatid flower-like structure protein"", ""testis specific leucine zipper protein nurit"", ""chibby homolog 2 (Drosophila)"""					12204287, 20096028	Standard	NM_001286341		Approved	NURIT, CBY2	uc001van.1	Q8NA61	OTTHUMG00000016861	ENST00000310521.1:c.103A>G	13.37:g.46276937A>G	ENSP00000309189:p.Arg35Gly						p.R35G	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)	2	183	+		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	35					A8K8I5|Q8NHV2	Missense_Mutation	SNP	ENST00000310521.1	37	c.103A>G	CCDS9399.1	.	.	.	.	.	.	.	.	.	.	A	11.52	1.663930	0.29604	.	.	ENSG00000174015	ENST00000310521	T	0.50548	0.74	4.46	2.08	0.27032	.	0.357835	0.21105	N	0.080097	T	0.37999	0.1024	L	0.36672	1.1	0.80722	D	1	P	0.40731	0.728	P	0.44359	0.447	T	0.19811	-1.0294	10	0.87932	D	0	.	4.4513	0.11621	0.6667:0.2281:0.1052:0.0	.	35	Q8NA61	SPERT_HUMAN	G	35	ENSP00000309189:R35G	ENSP00000309189:R35G	R	+	1	2	SPERT	45174938	1.000000	0.71417	0.998000	0.56505	0.924000	0.55760	0.756000	0.26419	0.474000	0.27392	0.533000	0.62120	AGA		0.423	SPERT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044786.2	NM_152719		4	151	0	0	0	1	0	4	151				
SMG9	56006	broad.mit.edu	37	19	44248978	44248978	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr19:44248978C>T	ENST00000270066.6	-	6	989	c.647G>A	c.(646-648)gGc>gAc	p.G216D	SMG9_ENST00000601170.1_Missense_Mutation_p.G216D	NM_019108.2	NP_061981.2	Q9H0W8	SMG9_HUMAN	SMG9 nonsense mediated mRNA decay factor	216					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|intracellular (GO:0005622)	identical protein binding (GO:0042802)			kidney(1)|large_intestine(5)|liver(1)|lung(7)|pancreas(1)|prostate(2)|urinary_tract(2)	19						CATGGACTTGCCTGTCCCCTG	0.537											OREG0025533	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000601170.1																			0				kidney(1)|large_intestine(5)|liver(1)|lung(7)|pancreas(1)|prostate(2)|urinary_tract(2)	19						c.(646-648)gGc>gAc		SMG9 nonsense mediated mRNA decay factor							167.0	125.0	139.0					19																	44248978		2203	4300	6503	SO:0001583	missense	56006				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	intracellular	protein binding	g.chr19:44248978C>T	BC008869	CCDS33043.2	19q13.31	2013-07-02	2013-07-02	2011-06-21	ENSG00000105771	ENSG00000105771			25763	protein-coding gene	gene with protein product		613176	"""chromosome 19 open reading frame 61"", ""smg-9 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C19orf61		11230166, 19417104	Standard	NM_019108		Approved	FLJ12886	uc002oxj.2	Q9H0W8	OTTHUMG00000150337	ENST00000270066.6:c.647G>A	19.37:g.44248978C>T	ENSP00000270066:p.Gly216Asp		OREG0025533	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	922	SMG9_ENST00000270066.6_Missense_Mutation_p.G216D	p.G216D			Q9H0W8	SMG9_HUMAN			6	961	-			216					O60429|Q9H9A9	Missense_Mutation	SNP	ENST00000270066.6	37	c.647G>A	CCDS33043.2	.	.	.	.	.	.	.	.	.	.	C	27.6	4.848503	0.91277	.	.	ENSG00000105771	ENST00000270066	T	0.61040	0.14	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.80639	0.4661	M	0.89715	3.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.84873	0.0826	10	0.87932	D	0	0.6242	16.3438	0.83116	0.0:1.0:0.0:0.0	.	216;216	Q9H0W8-2;Q9H0W8	.;SMG9_HUMAN	D	216	ENSP00000270066:G216D	ENSP00000270066:G216D	G	-	2	0	SMG9	48940818	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	6.799000	0.75160	2.469000	0.83416	0.455000	0.32223	GGC		0.537	SMG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317668.1	NM_019108		4	79	0	0	0	1	0	4	79				
CCDC180	100499483	broad.mit.edu	37	9	100056345	100056345	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr9:100056345G>A	ENST00000357054.1	+	13	1138	c.203G>A	c.(202-204)cGc>cAc	p.R68H	CCDC180_ENST00000395220.1_Missense_Mutation_p.R68H|CCDC180_ENST00000411667.2_5'UTR|RP11-23J9.4_ENST00000534123.1_RNA|RP11-23J9.5_ENST00000375204.2_RNA|CCDC180_ENST00000375205.2_Missense_Mutation_p.R108H|CCDC180_ENST00000375202.2_5'UTR			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	68						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CTGATTGCCCGCATCGACAGG	0.572																																						ENST00000357054.1																			0											c.(202-204)cGc>cAc		coiled-coil domain containing 180							106.0	94.0	98.0					9																	100056345		2203	4300	6503	SO:0001583	missense	100499483							g.chr9:100056345G>A	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.203G>A	9.37:g.100056345G>A	ENSP00000349562:p.Arg68His					RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_Missense_Mutation_p.R68H|CCDC180_ENST00000411667.2_5'UTR|RP11-23J9.5_ENST00000375204.2_RNA|CCDC180_ENST00000375202.2_5'UTR|CCDC180_ENST00000375205.2_Missense_Mutation_p.R108H	p.R68H							13	1138	+								Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37	c.203G>A		.	.	.	.	.	.	.	.	.	.	G	14.04	2.417259	0.42918	.	.	ENSG00000197816	ENST00000375205;ENST00000357054;ENST00000395220	D;D;D	0.84298	-1.83;-1.83;-1.83	5.49	3.68	0.42216	.	.	.	.	.	T	0.77363	0.4119	.	.	.	0.80722	D	1	P;P	0.38420	0.63;0.489	B;B	0.29663	0.105;0.105	T	0.75536	-0.3283	8	0.46703	T	0.11	.	13.4031	0.60893	0.0861:0.0:0.9139:0.0	.	68;68	B7ZMG3;Q9P1Z9	.;CI174_HUMAN	H	108;68;68	ENSP00000364351:R108H;ENSP00000349562:R68H;ENSP00000378646:R68H	ENSP00000349562:R68H	R	+	2	0	C9orf174	99096166	1.000000	0.71417	0.984000	0.44739	0.401000	0.30781	5.212000	0.65225	0.833000	0.34828	-0.710000	0.03640	CGC		0.572	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		4	157	0	0	0	1	0	4	157				
PPP1R14D	54866	broad.mit.edu	37	15	41120653	41120653	+	Missense_Mutation	SNP	G	G	A	rs373800458		TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr15:41120653G>A	ENST00000299174.5	-	1	254	c.187C>T	c.(187-189)Cgg>Tgg	p.R63W	PPP1R14D_ENST00000427255.2_Missense_Mutation_p.R63W	NM_017726.7	NP_060196.1	Q9NXH3	PP14D_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14D	63					regulation of phosphorylation (GO:0042325)	cytoplasm (GO:0005737)	protein phosphatase inhibitor activity (GO:0004864)	p.R63W(1)		breast(1)|large_intestine(2)|lung(2)|skin(1)	6		all_cancers(109;6.29e-14)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.88e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		AGCTGGCCCCGGTCATACTTC	0.592																																						ENST00000299174.5																			1	Substitution - Missense(1)	p.R63W(1)	large_intestine(1)	breast(1)|large_intestine(2)|lung(2)|skin(1)	6						c.(187-189)Cgg>Tgg		protein phosphatase 1, regulatory (inhibitor) subunit 14D		G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	73.0	74.0	73.0		187,187	2.6	1.0	15		73	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PPP1R14D	NM_001130143.1,NM_017726.7	101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	63/201,63/146	41120653	1,13005	2203	4300	6503	SO:0001583	missense	54866				regulation of phosphorylation	cytoplasm	protein phosphatase inhibitor activity	g.chr15:41120653G>A	AK000258	CCDS10066.1, CCDS45230.1	15q11.2-q14	2012-04-17			ENSG00000166143	ENSG00000166143		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14953	protein-coding gene	gene with protein product	"""gut and brain phosphatase inhibitor 1"", ""PKC-dependent PP1 inhibitory protein"""	613256				11948623	Standard	NM_017726		Approved	CPI17-like, FLJ20251, GBPI-1, MGC119014, MGC119016	uc001zmz.3	Q9NXH3	OTTHUMG00000130064	ENST00000299174.5:c.187C>T	15.37:g.41120653G>A	ENSP00000299174:p.Arg63Trp					PPP1R14D_ENST00000427255.2_Missense_Mutation_p.R63W	p.R63W	NM_017726.7	NP_060196.1	Q9NXH3	PP14D_HUMAN		GBM - Glioblastoma multiforme(113;2.88e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)	1	254	-		all_cancers(109;6.29e-14)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)	63					Q4V773	Missense_Mutation	SNP	ENST00000299174.5	37	c.187C>T	CCDS10066.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.262650	0.59431	0.0	1.16E-4	ENSG00000166143	ENST00000299174;ENST00000427255	.	.	.	5.58	2.64	0.31445	.	0.462653	0.18342	N	0.144154	T	0.69593	0.3128	M	0.79614	2.46	0.38874	D	0.956754	B;D	0.76494	0.155;0.999	B;D	0.63033	0.019;0.91	T	0.69343	-0.5170	9	0.87932	D	0	-6.0977	6.5831	0.22607	0.0832:0.0:0.5977:0.3191	.	63;63	E9PAT1;Q9NXH3	.;PP14D_HUMAN	W	63	.	ENSP00000299174:R63W	R	-	1	2	PPP1R14D	38907945	0.989000	0.36119	0.990000	0.47175	0.763000	0.43281	2.213000	0.42844	0.310000	0.22990	-0.913000	0.02753	CGG		0.592	PPP1R14D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252355.2	NM_017726		37	135	0	0	0	1	0	37	135				
GOLGA6D	653643	broad.mit.edu	37	15	75580621	75580621	+	Silent	SNP	C	C	T			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr15:75580621C>T	ENST00000434739.3	+	7	521	c.480C>T	c.(478-480)ggC>ggT	p.G160G		NM_001145224.1	NP_001138696.1	P0CG33	GOG6D_HUMAN	golgin A6 family, member D	160						Golgi apparatus (GO:0005794)				kidney(1)|lung(1)	2						ATCTGGCTGGCCGCCTGCAAT	0.527																																						ENST00000434739.3																			0				kidney(1)|lung(1)	2						c.(478-480)ggC>ggT		golgin A6 family, member D							14.0	15.0	14.0					15																	75580621		638	1553	2191	SO:0001819	synonymous_variant	653643							g.chr15:75580621C>T		CCDS45308.1	15q24.2	2013-05-10	2010-02-12	2009-09-04	ENSG00000140478	ENSG00000140478			32204	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6D"""				Standard	NM_001145224		Approved		uc010uma.2	P0CG33	OTTHUMG00000172672	ENST00000434739.3:c.480C>T	15.37:g.75580621C>T							p.G160G	NM_001145224.1	NP_001138696.1	P0CG33	GOG6D_HUMAN			7	521	+			160						Silent	SNP	ENST00000434739.3	37	c.480C>T	CCDS45308.1																																																																																				0.527	GOLGA6D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419798.1	NM_001145224		5	327	0	0	0	1	0	5	327				
N4BP2L2	10443	broad.mit.edu	37	13	33017320	33017320	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr13:33017320G>A	ENST00000504114.1	-	6	1400	c.1309C>T	c.(1309-1311)Cca>Tca	p.P437S	N4BP2L2_ENST00000357505.6_Missense_Mutation_p.P437S|N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.P452S			Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	0					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)			kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		GTTTCAGGTGGAGGTGAAAAA	0.373																																						ENST00000357505.6																			0				kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16						c.(1309-1311)Cca>Tca		NEDD4 binding protein 2-like 2							58.0	54.0	56.0					13																	33017320		1869	4106	5975	SO:0001583	missense	10443							g.chr13:33017320G>A	U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"""phosphonoformate immuno-associated protein 5"""	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000504114.1:c.1309C>T	13.37:g.33017320G>A	ENSP00000427477:p.Pro437Ser					N4BP2L2_ENST00000504114.1_Missense_Mutation_p.P437S|N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.P452S|N4BP2L2_ENST00000380121.3_5'UTR	p.P437S	NM_001278432.1	NP_001265361.1	Q92802	N42L2_HUMAN		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)	7	1413	-		Lung SC(185;0.0262)	108					A3KME8	Missense_Mutation	SNP	ENST00000504114.1	37	c.1309C>T		.	.	.	.	.	.	.	.	.	.	G	5.466	0.270974	0.10349	.	.	ENSG00000139617;ENSG00000139617;ENSG00000244754;ENSG00000244754;ENSG00000244754	ENST00000380121;ENST00000503296;ENST00000504114;ENST00000357505;ENST00000399396	.	.	.	5.5	-2.5	0.06384	.	1.357460	0.04617	N	0.401353	T	0.21103	0.0508	L	0.35723	1.085	0.09310	N	1	B;B;B;B	0.33637	0.11;0.11;0.42;0.264	B;B;B;B	0.29077	0.055;0.055;0.098;0.055	T	0.09640	-1.0665	9	0.27082	T	0.32	0.0919	0.1554	0.00097	0.299:0.1606:0.2639:0.2766	.	437;452;335;335	B4DPY1;Q92802-3;Q96KV2;Q9Y3H6	.;.;.;.	S	335;364;437;437;452	.	ENSP00000350104:P437S	P	-	1	0	N4BP2L2;RP11-298P3.4	31915320	0.000000	0.05858	0.000000	0.03702	0.827000	0.46813	0.200000	0.17257	-0.502000	0.06596	-0.142000	0.14014	CCA		0.373	N4BP2L2-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000361380.1	NM_014887		20	73	0	0	0	1	0	20	73				
ZACN	353174	broad.mit.edu	37	17	74077738	74077738	+	Missense_Mutation	SNP	G	G	A	rs201259366		TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr17:74077738G>A	ENST00000334586.5	+	7	865	c.782G>A	c.(781-783)cGc>cAc	p.R261H	EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000591724.1_Intron	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	261	Leu-rich.				ion transmembrane transport (GO:0034220)|response to zinc ion (GO:0010043)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)|ligand-gated ion channel activity (GO:0015276)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						GCCATTGAGCGCATAGGCTAC	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		18545	0.0		0.001	False		,,,				2504	0.0					ENST00000334586.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						c.(781-783)cGc>cAc		zinc activated ligand-gated ion channel							123.0	114.0	117.0					17																	74077738		2203	4300	6503	SO:0001583	missense	353174				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr17:74077738G>A	AK122638	CCDS11740.2	17q25.3	2012-01-18	2008-04-17	2008-04-17	ENSG00000186919	ENSG00000186919		"""Ligand-gated ion channels / Zinc activated channels"""	29504	protein-coding gene	gene with protein product		610935	"""ligand-gated ion channel, zinc activated 1"""	LGICZ1		12381728, 16083862	Standard	NM_180990		Approved	LGICZ, L2, ZAC, ZAC1	uc002jqn.2	Q401N2	OTTHUMG00000157186	ENST00000334586.5:c.782G>A	17.37:g.74077738G>A	ENSP00000334854:p.Arg261His					EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000589210.1_3'UTR	p.R261H	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN			7	865	+			261			Leu-rich.		Q2TB29|Q6ZWK3|Q86YW4	Missense_Mutation	SNP	ENST00000334586.5	37	c.782G>A	CCDS11740.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	9.702	1.154853	0.21371	.	.	ENSG00000186919	ENST00000334586	D	0.88431	-2.38	4.64	2.61	0.31194	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.154450	0.43110	N	0.000602	D	0.83755	0.5323	M	0.78285	2.405	0.20196	N	0.999922	P	0.42518	0.782	B	0.28232	0.087	T	0.77517	-0.2558	10	0.87932	D	0	-15.7124	6.8633	0.24079	0.0924:0.0:0.7344:0.1732	.	261	Q401N2	ZACN_HUMAN	H	261	ENSP00000334854:R261H	ENSP00000334854:R261H	R	+	2	0	ZACN	71589333	0.751000	0.28327	0.017000	0.16124	0.217000	0.24651	1.805000	0.38883	0.557000	0.29117	0.505000	0.49811	CGC		0.622	ZACN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347827.2	NM_180990		6	229	0	0	0	1	0	6	229				
ASTN1	460	broad.mit.edu	37	1	176915088	176915088	+	Silent	SNP	G	G	A	rs138093855		TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr1:176915088G>A	ENST00000367654.3	-	13	2458	c.2247C>T	c.(2245-2247)gcC>gcT	p.A749A	ASTN1_ENST00000367657.3_Silent_p.A741A|ASTN1_ENST00000424564.2_Silent_p.A741A|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Silent_p.A741A	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	749					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GCACCTGTCCGGCAGCCACTT	0.463													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19725	0.0		0.0	False		,,,				2504	0.0					ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(2245-2247)gcC>gcT		astrotactin 1		G	,	1,4405	2.1+/-5.4	0,1,2202	110.0	118.0	115.0		2223,2223	-1.5	0.5	1	dbSNP_134	115	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ASTN1	NM_004319.1,NM_207108.1	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	741/1295,741/1217	176915088	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176915088G>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2247C>T	1.37:g.176915088G>A						ASTN1_ENST00000361833.2_Silent_p.A741A|ASTN1_ENST00000367657.3_Silent_p.A741A|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Silent_p.A741A	p.A749A			O14525	ASTN1_HUMAN			13	2260	-			749					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37	c.2247C>T																																																																																					0.463	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		6	286	0	0	0	1	0	6	286				
SKIV2L2	23517	broad.mit.edu	37	5	54654435	54654435	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr5:54654435G>A	ENST00000230640.5	+	15	1822	c.1568G>A	c.(1567-1569)cGt>cAt	p.R523H	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.R422H	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	523	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.R523H(1)|p.R523P(1)		NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				ATGTCTGGTCGTGCTGGAAGG	0.323																																					Melanoma(2;92 134 23744 29976 33782)	ENST00000230640.5																			2	Substitution - Missense(2)	p.R523H(1)|p.R523P(1)	lung(1)|endometrium(1)	NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(1567-1569)cGt>cAt		superkiller viralicidic activity 2-like 2 (S. cerevisiae)							106.0	105.0	105.0					5																	54654435		2203	4300	6503	SO:0001583	missense	23517				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr5:54654435G>A	D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 118"""		"""KIAA0052"""	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.1568G>A	5.37:g.54654435G>A	ENSP00000230640:p.Arg523His					SKIV2L2_ENST00000545714.1_Missense_Mutation_p.R422H	p.R523H	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN			15	1822	+		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)	523			Helicase C-terminal.		Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Missense_Mutation	SNP	ENST00000230640.5	37	c.1568G>A	CCDS3967.1	.	.	.	.	.	.	.	.	.	.	G	35	5.477077	0.96291	.	.	ENSG00000039123	ENST00000230640;ENST00000545714	D;D	0.99143	-5.48;-5.48	5.88	5.88	0.94601	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99691	0.9883	H	0.99104	4.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97305	0.9933	10	0.87932	D	0	-16.9694	20.2375	0.98362	0.0:0.0:1.0:0.0	.	422;523	F5H7E2;P42285	.;SK2L2_HUMAN	H	523;422	ENSP00000230640:R523H;ENSP00000442583:R422H	ENSP00000230640:R523H	R	+	2	0	SKIV2L2	54690192	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.716000	0.98752	2.790000	0.95986	0.655000	0.94253	CGT		0.323	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1			24	95	0	0	0	1	0	24	95				
PLCG2	5336	broad.mit.edu	37	16	81990347	81990347	+	Silent	SNP	G	G	A			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr16:81990347G>A	ENST00000359376.3	+	32	3832	c.3618G>A	c.(3616-3618)cgG>cgA	p.R1206R		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	1206					B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.R1206R(1)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TGAGGAGGCGGCAAGAAGAAC	0.512																																						ENST00000359376.3																			1	Substitution - coding silent(1)	p.R1206R(1)	endometrium(1)	NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						c.(3616-3618)cgG>cgA		phospholipase C, gamma 2 (phosphatidylinositol-specific)							80.0	83.0	82.0					16																	81990347		2003	4164	6167	SO:0001819	synonymous_variant	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81990347G>A		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.3618G>A	16.37:g.81990347G>A							p.R1206R	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN			32	3832	+			1206					D3DUL3|Q3ZTS2|Q59H45|Q969T5	Silent	SNP	ENST00000359376.3	37	c.3618G>A	CCDS42204.1																																																																																				0.512	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			5	119	0	0	0	1	0	5	119				
ZMYM3	9203	broad.mit.edu	37	X	70469912	70469912	+	Silent	SNP	G	G	A			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chrX:70469912G>A	ENST00000353904.2	-	6	1402	c.1215C>T	c.(1213-1215)gaC>gaT	p.D405D	ZMYM3_ENST00000373988.1_Silent_p.D407D|ZMYM3_ENST00000373984.3_Silent_p.D407D|ZMYM3_ENST00000314425.5_Silent_p.D405D|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373982.1_Silent_p.D407D|ZMYM3_ENST00000373978.1_Missense_Mutation_p.T309M|ZMYM3_ENST00000373998.1_Silent_p.D405D|ZMYM3_ENST00000373981.1_Silent_p.D405D	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	405					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					AGCGAGTAGCGTCGGCGGGAT	0.622																																						ENST00000373978.1																			0				breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(925-927)aCg>aTg		zinc finger, MYM-type 3							35.0	32.0	33.0					X																	70469912		2203	4300	6503	SO:0001819	synonymous_variant	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70469912G>A	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.1215C>T	X.37:g.70469912G>A						ZMYM3_ENST00000373988.1_Silent_p.D407D|ZMYM3_ENST00000373982.1_Silent_p.D407D|ZMYM3_ENST00000314425.5_Silent_p.D405D|ZMYM3_ENST00000373981.1_Silent_p.D405D|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Silent_p.D407D|ZMYM3_ENST00000373998.1_Silent_p.D405D|ZMYM3_ENST00000353904.2_Silent_p.D405D	p.T309M			Q14202	ZMYM3_HUMAN			5	1003	-	Renal(35;0.156)		0					D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	c.926C>T	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	g	0.004	-2.249456	0.00268	.	.	ENSG00000147130	ENST00000373978	.	.	.	4.26	1.77	0.24775	.	.	.	.	.	T	0.48352	0.1495	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20806	-1.0264	5	0.20046	T	0.44	-9.3438	6.9462	0.24520	0.6415:0.0:0.3585:0.0	.	.	.	.	M	309	.	ENSP00000363090:T309M	T	-	2	0	ZMYM3	70386637	1.000000	0.71417	0.987000	0.45799	0.824000	0.46624	0.900000	0.28431	0.504000	0.28082	-0.643000	0.03959	ACG		0.622	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		14	50	0	0	0	1	0	14	50				
TTN	7273	broad.mit.edu	37	2	179516426	179516426	+	Missense_Mutation	SNP	C	C	T	rs374394719	byFrequency	TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr2:179516426C>T	ENST00000591111.1	-	161	35133	c.34909G>A	c.(34909-34911)Gtt>Att	p.V11637I	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V13144I|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V10710I|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11637	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTTGGCAACGACAGCAGGT	0.398													C|||	4	0.000798722	0.003	0.0	5008	,	,		18858	0.0		0.0	False		,,,				2504	0.0					ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(39430-39432)Gtt>Att		titin		C	,,,ILE/VAL	2,3746		0,2,1872	125.0	117.0	120.0		,,,32128	-3.8	0.0	2		120	0,8214		0,0,4107	no	intron,intron,intron,missense	TTN	NM_003319.4,NM_133432.3,NM_133437.3,NM_133378.4	,,,29	0,2,5979	TT,TC,CC		0.0,0.0534,0.0167	,,,benign	,,,10710/33424	179516426	2,11960	1874	4107	5981	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179516426C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.34909G>A	2.37:g.179516426C>T	ENSP00000465570:p.Val11637Ile					TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V10710I|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V11637I	p.V13144I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		206	39654	-			11497			Ig-like 87.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.39430G>A		.	.	.	.	.	.	.	.	.	.	C	11.52	1.662597	0.29515	5.34E-4	0.0	ENSG00000155657	ENST00000342992	T	0.64260	-0.09	5.13	-3.79	0.04320	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.49115	0.1538	L	0.33485	1.01	0.09310	N	0.999993	B	0.02656	0.0	B	0.01281	0.0	T	0.40720	-0.9548	9	0.87932	D	0	.	13.1812	0.59655	0.0:0.4354:0.0:0.5645	.	11637	Q8WZ42	TITIN_HUMAN	I	10710	ENSP00000343764:V10710I	ENSP00000343764:V10710I	V	-	1	0	TTN	179224671	0.000000	0.05858	0.002000	0.10522	0.904000	0.53231	-3.768000	0.00371	-0.939000	0.03709	0.650000	0.86243	GTT		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		15	47	0	0	0	1	0	15	47				
RAD9A	5883	broad.mit.edu	37	11	67159688	67159688	+	Missense_Mutation	SNP	C	C	A	rs543611523	byFrequency	TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr11:67159688C>A	ENST00000307980.2	+	2	184	c.91C>A	c.(91-93)Ccc>Acc	p.P31T	RNU6-1238P_ENST00000517215.1_RNA	NM_001243224.1|NM_004584.2	NP_001230153.1|NP_004575.1	Q99638	RAD9A_HUMAN	RAD9 homolog A (S. pombe)	31					cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|intra-S DNA damage checkpoint (GO:0031573)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)	checkpoint clamp complex (GO:0030896)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|enzyme binding (GO:0019899)|exodeoxyribonuclease III activity (GO:0008853)|histone deacetylase binding (GO:0042826)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)			lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			CTACCTGGAACCCTTGGAGGA	0.701								Other conserved DNA damage response genes																														ENST00000307980.2																			0				lung(7)|upper_aerodigestive_tract(1)	8						c.(91-93)Ccc>Acc	Other conserved DNA damage response genes	RAD9 homolog A (S. pombe)							13.0	16.0	15.0					11																	67159688		2189	4288	6477	SO:0001583	missense	5883				DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding	g.chr11:67159688C>A	U53174	CCDS8159.1	11q13.1-q13.2	2008-02-05	2003-07-21	2003-07-23	ENSG00000172613	ENSG00000172613			9827	protein-coding gene	gene with protein product		603761	"""RAD9 (S. pombe) homolog"""	RAD9		8943031	Standard	NM_004584		Approved		uc001okr.3	Q99638	OTTHUMG00000167670	ENST00000307980.2:c.91C>A	11.37:g.67159688C>A	ENSP00000311360:p.Pro31Thr						p.P31T	NM_001243224.1|NM_004584.2	NP_001230153.1|NP_004575.1	Q99638	RAD9A_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.53e-07)		2	184	+			31					B2RCZ8|Q6FI29|Q96C41	Missense_Mutation	SNP	ENST00000307980.2	37	c.91C>A	CCDS8159.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.682183	0.88542	.	.	ENSG00000172613	ENST00000307980;ENST00000544620	T;T	0.16743	2.32;2.32	3.83	3.83	0.44106	.	0.000000	0.85682	D	0.000000	T	0.37073	0.0990	M	0.73598	2.24	0.54753	D	0.999984	D	0.89917	1.0	D	0.97110	1.0	T	0.09862	-1.0655	10	0.22109	T	0.4	-26.6867	11.4106	0.49923	0.0:1.0:0.0:0.0	.	31	Q99638	RAD9A_HUMAN	T	31	ENSP00000311360:P31T;ENSP00000444979:P31T	ENSP00000311360:P31T	P	+	1	0	RAD9A	66916264	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	5.269000	0.65542	2.128000	0.65567	0.462000	0.41574	CCC		0.701	RAD9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395481.2	NM_004584		9	27	1	0	0.000274275	1	0.000282462	9	27				
HTR3A	3359	broad.mit.edu	37	11	113856763	113856763	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr11:113856763C>T	ENST00000504030.2	+	6	1016	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C	HTR3A_ENST00000506841.2_Missense_Mutation_p.R191C|HTR3A_ENST00000355556.2_Missense_Mutation_p.R197C|HTR3A_ENST00000299961.5_Missense_Mutation_p.R176C|HTR3A_ENST00000375498.2_Missense_Mutation_p.R197C|HTR3A_ENST00000535865.1_Intron			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	191					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)	p.R191G(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	CTCTTTGTGGCGCTTGCCAGA	0.527																																						ENST00000504030.2																			1	Substitution - Missense(1)	p.R191G(1)	central_nervous_system(1)	central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36						c.(571-573)Cgc>Tgc		5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						195.0	205.0	202.0					11																	113856763		2201	4296	6497	SO:0001583	missense	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113856763C>T	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.571C>T	11.37:g.113856763C>T	ENSP00000424189:p.Arg191Cys					HTR3A_ENST00000506841.2_Missense_Mutation_p.R191C|HTR3A_ENST00000535865.1_Intron|HTR3A_ENST00000375498.2_Missense_Mutation_p.R197C|HTR3A_ENST00000299961.5_Missense_Mutation_p.R176C|HTR3A_ENST00000355556.2_Missense_Mutation_p.R197C	p.R191C			P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	6	1016	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	191					B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	ENST00000504030.2	37	c.571C>T		.	.	.	.	.	.	.	.	.	.	C	15.83	2.948095	0.53186	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000299961	T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	D	0.85575	0.5728	M	0.62209	1.925	0.80722	D	1	P;D;P	0.69078	0.928;0.997;0.928	P;P;P	0.59056	0.565;0.851;0.565	D	0.86792	0.1986	10	0.66056	D	0.02	-14.1102	13.5593	0.61779	0.1557:0.8443:0.0:0.0	.	176;197;197	B4DSY6;G5E986;Q7KZM7	.;.;.	C	191;197;197;191;176	ENSP00000424189:R191C;ENSP00000347754:R197C;ENSP00000364648:R197C;ENSP00000424776:R191C;ENSP00000299961:R176C	ENSP00000299961:R176C	R	+	1	0	HTR3A	113361973	1.000000	0.71417	0.995000	0.50966	0.855000	0.48748	2.731000	0.47343	2.457000	0.83068	0.655000	0.94253	CGC		0.527	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		108	373	0	0	0	1	0	108	373				
CR2	1380	broad.mit.edu	37	1	207639979	207639979	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr1:207639979G>A	ENST00000367058.3	+	2	356	c.167G>A	c.(166-168)cGc>cAc	p.R56H	CR2_ENST00000367059.3_Missense_Mutation_p.R56H|CR2_ENST00000458541.2_Missense_Mutation_p.R56H|CR2_ENST00000367057.3_Missense_Mutation_p.R56H	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	56	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GGTACCTTCCGCCTCATTGGA	0.408																																						ENST00000367057.3																			0				NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						c.(166-168)cGc>cAc		complement component (3d/Epstein Barr virus) receptor 2							107.0	108.0	108.0					1																	207639979		2203	4300	6503	SO:0001583	missense	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207639979G>A	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.167G>A	1.37:g.207639979G>A	ENSP00000356025:p.Arg56His					CR2_ENST00000367059.3_Missense_Mutation_p.R56H|CR2_ENST00000458541.2_Missense_Mutation_p.R56H|CR2_ENST00000367058.3_Missense_Mutation_p.R56H	p.R56H	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN			2	356	+			56			Sushi 1.		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	c.167G>A	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.921572	0.52653	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	4.91	4.91	0.64330	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.74168	0.3681	L	0.58428	1.81	0.47065	D	0.9993	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.72075	0.972;0.976;0.94	T	0.75059	-0.3451	9	0.54805	T	0.06	.	13.4636	0.61241	0.0:0.0:1.0:0.0	.	56;56;56	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	H	56	ENSP00000356025:R56H;ENSP00000356024:R56H;ENSP00000356026:R56H;ENSP00000404222:R56H	ENSP00000356024:R56H	R	+	2	0	CR2	205706602	0.221000	0.23642	0.993000	0.49108	0.196000	0.23810	1.842000	0.39250	2.560000	0.86352	0.655000	0.94253	CGC		0.408	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		63	212	0	0	0	1	0	63	212				
TRAK1	22906	broad.mit.edu	37	3	42264535	42264535	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr3:42264535C>A	ENST00000327628.5	+	16	2568	c.2168C>A	c.(2167-2169)tCc>tAc	p.S723Y	RNU4-78P_ENST00000410940.1_RNA|TRAK1_ENST00000396175.1_Missense_Mutation_p.S665Y|TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	723					endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CTGGCTGAGTCCTTCACTAAC	0.607																																					GBM(44;195 884 22595 31865 41850)	ENST00000327628.5																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						c.(2167-2169)tCc>tAc		trafficking protein, kinesin binding 1							71.0	79.0	77.0					3																	42264535		2115	4235	6350	SO:0001583	missense	22906				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		g.chr3:42264535C>A		CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"""OGT(O Glc NAc transferase) interacting protein 106 KDa"", ""O-linked N-acetylglucosamine transferase interacting protein 106"", ""milton homolog 1 (Drosophila)"""	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.2168C>A	3.37:g.42264535C>A	ENSP00000328998:p.Ser723Tyr					TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Missense_Mutation_p.S665Y	p.S723Y	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN			16	2568	+			723					E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Missense_Mutation	SNP	ENST00000327628.5	37	c.2168C>A	CCDS43072.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.775050	0.70107	.	.	ENSG00000182606	ENST00000327628;ENST00000543338;ENST00000396175	T;T	0.50548	0.74;0.74	5.32	5.32	0.75619	Trafficking kinesin-binding protein domain (1);	0.215867	0.41938	D	0.000794	T	0.62134	0.2403	L	0.43923	1.385	0.80722	D	1	D;D	0.69078	0.997;0.994	D;D	0.68483	0.958;0.925	T	0.64676	-0.6351	10	0.87932	D	0	.	17.9738	0.89121	0.0:1.0:0.0:0.0	.	665;723	C9JC32;Q9UPV9	.;TRAK1_HUMAN	Y	723;702;665	ENSP00000328998:S723Y;ENSP00000379478:S665Y	ENSP00000328998:S723Y	S	+	2	0	TRAK1	42239539	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.636000	0.61339	2.514000	0.84764	0.591000	0.81541	TCC		0.607	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965		4	99	1	0	1	1	1	4	99				
UBC	7316	broad.mit.edu	37	12	125397663	125397663	+	Silent	SNP	A	A	G	rs564512257	byFrequency	TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr12:125397663A>G	ENST00000536769.1	-	1	2231	c.655T>C	c.(655-657)Ttg>Ctg	p.L219L	UBC_ENST00000339647.5_Silent_p.L219L|UBC_ENST00000546120.1_Silent_p.L143L|UBC_ENST00000536661.1_5'Flank|UBC_ENST00000538617.1_Intron|MIR5188_ENST00000583467.1_RNA			P0CG48	UBC_HUMAN	ubiquitin C	219	Ubiquitin-like 3. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		ACCAGGTGCAAGGTGGACTCT	0.517													-|||	2	0.000399361	0.0	0.0	5008	,	,		27802	0.001		0.0	False		,,,				2504	0.001					ENST00000536769.1																			0				breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(655-657)Ttg>Ctg		ubiquitin C							207.0	183.0	191.0					12																	125397663		2203	4298	6501	SO:0001819	synonymous_variant	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397663A>G		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.655T>C	12.37:g.125397663A>G						UBC_ENST00000339647.5_Silent_p.L219L|UBC_ENST00000546120.1_Silent_p.L143L|UBC_ENST00000538617.1_Intron	p.L219L			P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	2231	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		219			Ubiquitin-like 3.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000536769.1	37	c.655T>C	CCDS9260.1																																																																																				0.517	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009		8	188	0	0	0	1	0	8	188				
THBS2	7058	broad.mit.edu	37	6	169622399	169622399	+	Missense_Mutation	SNP	G	G	A	rs141219768		TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr6:169622399G>A	ENST00000366787.3	-	20	3415	c.3166C>T	c.(3166-3168)Cgg>Tgg	p.R1056W	THBS2_ENST00000488355.1_5'UTR|XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	1056	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CCATAGGCCCGCGTGGGCTGG	0.632																																					Esophageal Squamous(91;219 1934 18562 44706)	ENST00000366787.3																			0				NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111						c.(3166-3168)Cgg>Tgg		thrombospondin 2		G	TRP/ARG	4,4400	8.1+/-20.4	0,4,2198	52.0	46.0	48.0		3166	2.2	1.0	6	dbSNP_134	48	0,8600		0,0,4300	no	missense	THBS2	NM_003247.2	101	0,4,6498	AA,AG,GG		0.0,0.0908,0.0308	probably-damaging	1056/1173	169622399	4,13000	2202	4300	6502	SO:0001583	missense	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169622399G>A		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.3166C>T	6.37:g.169622399G>A	ENSP00000355751:p.Arg1056Trp					XXyac-YX65C7_A.2_ENST00000444188.1_RNA|THBS2_ENST00000488355.1_5'UTR	p.R1056W	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	20	3415	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	1056			TSP C-terminal.		A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	c.3166C>T	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.871646	0.51695	9.08E-4	0.0	ENSG00000186340	ENST00000366787;ENST00000392099	D	0.95788	-3.81	4.32	2.19	0.27852	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.000000	0.39274	U	0.001414	D	0.95227	0.8452	M	0.77103	2.36	0.29163	N	0.877624	D	0.89917	1.0	D	0.70935	0.971	D	0.90299	0.4328	10	0.87932	D	0	-41.2224	5.6454	0.17586	0.0:0.2564:0.3913:0.3523	.	1056	P35442	TSP2_HUMAN	W	1056;314	ENSP00000355751:R1056W	ENSP00000355751:R1056W	R	-	1	2	THBS2	169364324	0.946000	0.32159	0.988000	0.46212	0.502000	0.33828	2.744000	0.47450	0.760000	0.33108	0.297000	0.19635	CGG		0.632	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		3	80	0	0	0	1	0	3	80				
COL6A3	1293	broad.mit.edu	37	2	238270426	238270426	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr2:238270426C>T	ENST00000295550.4	-	15	6564	c.6112G>A	c.(6112-6114)Ggg>Agg	p.G2038R	COL6A3_ENST00000409809.1_Missense_Mutation_p.G1832R|COL6A3_ENST00000472056.1_Missense_Mutation_p.G1431R|COL6A3_ENST00000353578.4_Missense_Mutation_p.G1832R|COL6A3_ENST00000347401.3_Missense_Mutation_p.G1837R|COL6A3_ENST00000346358.4_Missense_Mutation_p.G1838R	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2038	Collagen-like 1.|Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCCCTCTGCCCAGAGCACTTG	0.567																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(6112-6114)Ggg>Agg		collagen, type VI, alpha 3							79.0	83.0	81.0					2																	238270426		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238270426C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.6112G>A	2.37:g.238270426C>T	ENSP00000295550:p.Gly2038Arg					COL6A3_ENST00000472056.1_Missense_Mutation_p.G1431R|COL6A3_ENST00000346358.4_Missense_Mutation_p.G1838R|COL6A3_ENST00000353578.4_Missense_Mutation_p.G1832R|COL6A3_ENST00000347401.3_Missense_Mutation_p.G1837R|COL6A3_ENST00000409809.1_Missense_Mutation_p.G1832R	p.G2038R	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	15	6564	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	2038			Collagen-like 1.|Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.6112G>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.905553	0.52333	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.99353	-5.77;-5.77;-5.15;-5.77;-5.15;-5.77	5.38	5.38	0.77491	.	0.000000	0.52532	D	0.000070	D	0.99573	0.9846	M	0.92970	3.365	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98208	1.0471	10	0.62326	D	0.03	.	19.1613	0.93533	0.0:1.0:0.0:0.0	.	1431;1832;2038	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	R	2038;1837;1832;1431;1832;1838	ENSP00000295550:G2038R;ENSP00000315609:G1837R;ENSP00000315873:G1832R;ENSP00000418285:G1431R;ENSP00000386844:G1832R;ENSP00000295546:G1838R	ENSP00000295550:G2038R	G	-	1	0	COL6A3	237935165	1.000000	0.71417	0.993000	0.49108	0.687000	0.40016	7.346000	0.79347	2.513000	0.84729	0.650000	0.86243	GGG		0.567	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		22	121	0	0	0	1	0	22	121				
HERC2P3	283755	broad.mit.edu	37	15	20644850	20644850	+	RNA	SNP	G	G	A			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr15:20644850G>A	ENST00000428453.1	-	0	3097							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.A803V(4)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CATGTCCCTCGCCCTTTCGGT	0.463																																						ENST00000428453.1																			4	Substitution - Missense(4)	p.A803V(4)	lung(3)|endometrium(1)	central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35															116.0	62.0	82.0					15																	20644850		1509	2699	4208			0							g.chr15:20644850G>A	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20644850G>A														0	3097	-									RNA	SNP	ENST00000428453.1	37																																																																																						0.463	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		4	71	0	0	0	1	0	4	71				
UNC13A	23025	broad.mit.edu	37	19	17785503	17785503	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr19:17785503G>A	ENST00000519716.2	-	3	114	c.115C>T	c.(115-117)Cgg>Tgg	p.R39W	UNC13A_ENST00000551649.1_Missense_Mutation_p.R39W|UNC13A_ENST00000550896.1_Missense_Mutation_p.R39W|UNC13A_ENST00000552293.1_Missense_Mutation_p.R39W|UNC13A_ENST00000252773.7_Missense_Mutation_p.R39W|UNC13A_ENST00000428389.2_Missense_Mutation_p.R127W	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	39	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TGGCTGCCCCGCACCGCGATG	0.602																																						ENST00000428389.2																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						c.(379-381)Cgg>Tgg		unc-13 homolog A (C. elegans)							98.0	100.0	99.0					19																	17785503		2110	4235	6345	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17785503G>A	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.115C>T	19.37:g.17785503G>A	ENSP00000429562:p.Arg39Trp					UNC13A_ENST00000519716.2_Missense_Mutation_p.R39W|UNC13A_ENST00000552293.1_Missense_Mutation_p.R39W|UNC13A_ENST00000550896.1_Missense_Mutation_p.R39W|UNC13A_ENST00000252773.7_Missense_Mutation_p.R39W|UNC13A_ENST00000551649.1_Missense_Mutation_p.R39W	p.R127W			Q9UPW8	UN13A_HUMAN			4	378	-			39					E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.379C>T	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	G	22.9	4.355936	0.82243	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45;-0.45;-0.45	4.93	3.86	0.44501	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	U	0.000001	T	0.77363	0.4119	L	0.60455	1.87	0.46096	D	0.998865	D	0.89917	1.0	D	0.87578	0.998	T	0.78823	-0.2052	10	0.87932	D	0	-16.3763	12.1029	0.53794	0.0:0.0:0.8265:0.1735	.	39	Q9UPW8	UN13A_HUMAN	W	39;127;39;39;39;39	ENSP00000429562:R39W;ENSP00000400409:R127W;ENSP00000252773:R39W;ENSP00000447236:R39W;ENSP00000447572:R39W;ENSP00000446831:R39W	ENSP00000252773:R39W	R	-	1	2	UNC13A	17646503	1.000000	0.71417	0.815000	0.32552	0.976000	0.68499	4.642000	0.61383	1.029000	0.39812	0.313000	0.20887	CGG		0.602	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		5	163	0	0	0	1	0	5	163				
CGRRF1	10668	broad.mit.edu	37	14	54989229	54989229	+	Silent	SNP	A	A	G			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr14:54989229A>G	ENST00000216420.7	+	2	294	c.162A>G	c.(160-162)acA>acG	p.T54T	CGRRF1_ENST00000557512.1_3'UTR	NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1	54					cell cycle arrest (GO:0007050)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						AGTTCAGCACAAGAGTTTTCA	0.338																																						ENST00000216420.7																			0				endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						c.(160-162)acA>acG		cell growth regulator with ring finger domain 1							88.0	86.0	87.0					14																	54989229		2203	4300	6503	SO:0001819	synonymous_variant	10668				cell cycle arrest|negative regulation of cell proliferation|response to stress		zinc ion binding	g.chr14:54989229A>G	BC015063	CCDS9719.1	14q22.2	2013-09-20			ENSG00000100532	ENSG00000100532		"""RING-type (C3HC4) zinc fingers"""	15528	protein-coding gene	gene with protein product		606138				8968090	Standard	NM_006568		Approved	CGR19, RNF197	uc001xay.3	Q99675	OTTHUMG00000140308	ENST00000216420.7:c.162A>G	14.37:g.54989229A>G						CGRRF1_ENST00000557512.1_3'UTR	p.T54T	NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN			2	294	+			54					Q96BX2	Silent	SNP	ENST00000216420.7	37	c.162A>G	CCDS9719.1																																																																																				0.338	CGRRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276905.2	NM_006568		5	170	0	0	0	1	0	5	170				
RHNO1	83695	broad.mit.edu	37	12	2994573	2994573	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr12:2994573C>A	ENST00000489288.2	+	2	193	c.41C>A	c.(40-42)gCc>gAc	p.A14D	RHNO1_ENST00000464682.2_Intron|RHNO1_ENST00000461997.2_Missense_Mutation_p.A14D	NM_001252499.2|NM_001257097.1|NM_001257098.1	NP_001239428.1|NP_001244026.1|NP_001244027.1	Q9BSD3	RHNO1_HUMAN	RAD9-HUS1-RAD1 interacting nuclear orphan 1	14					cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|positive regulation of G0 to G1 transition (GO:0070318)|recombinational repair (GO:0000725)	chromosome (GO:0005694)|nucleus (GO:0005634)											TCCCAGAAAGCCCCGCTGCTG	0.567																																						ENST00000489288.2																			0											c.(40-42)gCc>gAc		RAD9-HUS1-RAD1 interacting nuclear orphan 1							69.0	67.0	68.0					12																	2994573		2203	4300	6503	SO:0001583	missense	83695							g.chr12:2994573C>A	AK021945	CCDS8518.1, CCDS58199.1	12p13.33	2012-08-23	2012-08-23	2012-08-23	ENSG00000171792	ENSG00000171792			28206	protein-coding gene	gene with protein product	"""Rad9, Rad1, Hus1 interacting nuclear orphan"""	614085	"""chromosome 12 open reading frame 32"""	C12orf32		20811708, 21659603	Standard	NM_001252499		Approved	HKMT1188, MGC13204, RHINO	uc031qfq.1	Q9BSD3	OTTHUMG00000158557	ENST00000489288.2:c.41C>A	12.37:g.2994573C>A	ENSP00000438590:p.Ala14Asp					RHNO1_ENST00000461997.2_Missense_Mutation_p.A14D|RHNO1_ENST00000464682.2_Intron	p.A14D	NM_001252499.2|NM_001257097.1|NM_001257098.1	NP_001239428.1|NP_001244026.1|NP_001244027.1					2	193	+								B7Z989	Missense_Mutation	SNP	ENST00000489288.2	37	c.41C>A	CCDS8518.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.283425	0.59867	.	.	ENSG00000171792	ENST00000538636;ENST00000461997;ENST00000489288;ENST00000366285;ENST00000538700	.	.	.	5.34	3.52	0.40303	.	0.458676	0.21621	N	0.071648	T	0.60958	0.2309	.	.	.	0.80722	D	1	P;P	0.48016	0.904;0.904	P;P	0.49887	0.625;0.55	T	0.61242	-0.7102	8	0.72032	D	0.01	-4.1717	9.0035	0.36097	0.0:0.8281:0.0:0.1719	.	14;14	B7Z989;Q9BSD3	.;RHINO_HUMAN	D	14	.	ENSP00000444654:A14D	A	+	2	0	C12orf32	2864834	0.988000	0.35896	0.982000	0.44146	0.462000	0.32619	2.534000	0.45676	0.633000	0.30452	0.591000	0.81541	GCC		0.567	RHNO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351286.2	NM_031465		4	131	1	0	2.56e-06	1	2.67636e-06	4	131				
MXRA5	25878	broad.mit.edu	37	X	3240986	3240986	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chrX:3240986T>C	ENST00000217939.6	-	5	2894	c.2740A>G	c.(2740-2742)Ata>Gta	p.I914V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	914						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)				GGCTCAGATATAAGTGTAGGG	0.498																																						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.(2740-2742)Ata>Gta		matrix-remodelling associated 5							98.0	81.0	87.0					X																	3240986		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3240986T>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.2740A>G	X.37:g.3240986T>C	ENSP00000217939:p.Ile914Val						p.I914V	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			5	2894	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	914					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.2740A>G	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	t	0.018	-1.466518	0.01053	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.61627	0.09	3.33	-2.65	0.06095	.	2.683550	0.01853	N	0.036052	T	0.31918	0.0812	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.11155	-1.0599	10	0.12430	T	0.62	.	4.2967	0.10904	0.0:0.2921:0.1652:0.5427	.	914	Q9NR99	MXRA5_HUMAN	V	914	ENSP00000217939:I914V	ENSP00000217939:I914V	I	-	1	0	MXRA5	3250986	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.563000	0.05943	-0.993000	0.03467	0.430000	0.28490	ATA		0.498	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		7	184	0	0	0	1	0	7	184				
SACM1L	22908	broad.mit.edu	37	3	45751042	45751042	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr3:45751042A>G	ENST00000389061.5	+	5	590	c.386A>G	c.(385-387)gAt>gGt	p.D129G	SACM1L_ENST00000418611.1_Missense_Mutation_p.D26G|SACM1L_ENST00000464524.1_3'UTR|SACM1L_ENST00000541314.1_Missense_Mutation_p.D68G	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	129	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)	phosphatase activity (GO:0016791)|phosphatidylinositol bisphosphate phosphatase activity (GO:0034593)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		TTGAATGTGGATGGATTTTAC	0.353																																						ENST00000389061.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23						c.(385-387)gAt>gGt		SAC1 suppressor of actin mutations 1-like (yeast)							126.0	120.0	122.0					3																	45751042		2203	4300	6503	SO:0001583	missense	22908					Golgi apparatus		g.chr3:45751042A>G	AB020658	CCDS33745.1	3p21.3	2010-03-11			ENSG00000211456	ENSG00000211456			17059	protein-coding gene	gene with protein product		606569				10048485, 11352561	Standard	NM_014016		Approved	SAC1, KIAA0851	uc003cos.2	Q9NTJ5	OTTHUMG00000156653	ENST00000389061.5:c.386A>G	3.37:g.45751042A>G	ENSP00000373713:p.Asp129Gly					SACM1L_ENST00000464524.1_3'UTR|SACM1L_ENST00000418611.1_Missense_Mutation_p.D26G|SACM1L_ENST00000541314.1_Missense_Mutation_p.D68G	p.D129G	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)	5	590	+			129			SAC.		A8K527|B4DK71|O94935|Q7LA14|Q7LA22|Q96AX7|Q9NQ46|Q9NQ57	Missense_Mutation	SNP	ENST00000389061.5	37	c.386A>G	CCDS33745.1	.	.	.	.	.	.	.	.	.	.	A	16.52	3.146332	0.57044	.	.	ENSG00000211456	ENST00000418611;ENST00000389061;ENST00000438671;ENST00000541314	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	6.17	6.17	0.99709	Synaptojanin, N-terminal (2);	0.049784	0.85682	D	0.000000	T	0.30293	0.0760	N	0.02736	-0.51	0.58432	D	0.999999	B;B	0.06786	0.001;0.0	B;B	0.11329	0.006;0.006	T	0.21793	-1.0235	10	0.16420	T	0.52	-30.3502	16.8222	0.85835	1.0:0.0:0.0:0.0	.	68;129	B4DK71;Q9NTJ5	.;SAC1_HUMAN	G	26;129;68;68	ENSP00000396387:D26G;ENSP00000373713:D129G;ENSP00000411966:D68G;ENSP00000443373:D68G	ENSP00000373713:D129G	D	+	2	0	SACM1L	45726046	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.946000	0.92992	2.371000	0.80710	0.533000	0.62120	GAT		0.353	SACM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345065.2	NM_014016		35	141	0	0	0	1	0	35	141				
ZNF281	23528	broad.mit.edu	37	1	200376612	200376614	+	In_Frame_Del	DEL	AAC	AAC	-			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr1:200376612_200376614delAAC	ENST00000294740.3	-	2	2344_2346	c.2220_2222delGTT	c.(2218-2223)ttgttt>ttt	p.L740del	ZNF281_ENST00000367352.3_In_Frame_Del_p.L704del|ZNF281_ENST00000367353.1_In_Frame_Del_p.L740del	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	740					embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						CTGAGATCCAAACAACATCCCAA	0.443																																						ENST00000294740.2																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(2218-2223)ttt>tt		zinc finger protein 281																																				SO:0001651	inframe_deletion	23528				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:200376612_200376614delAAC	AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702		"""Zinc fingers, C2H2-type"""	13075	protein-coding gene	gene with protein product						10448078	Standard	NM_012482		Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.2220_2222delGTT	1.37:g.200376615_200376617delAAC	ENSP00000294740:p.Leu740del					ZNF281_ENST00000367353.1_In_Frame_Del_p.LF740del|ZNF281_ENST00000367352.3_In_Frame_Del_p.LF704del	p.LF740del	NM_012482.3	NP_036614.1	Q9Y2X9	ZN281_HUMAN			2	2344_2346	-			740					A6NF48|B3KMX2|Q5RKW5|Q9NY92	In_Frame_Del	DEL	ENST00000294740.3	37	c.2220_2222delGTT	CCDS1402.1																																																																																				0.443	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086879.2	NM_012482		8	166						8	166	---	---	---	---
CDC42BPA	8476	broad.mit.edu	37	1	227218139	227218141	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr1:227218139_227218141delCTT	ENST00000366769.3	-	28	4992_4994	c.3701_3703delAAG	c.(3700-3705)gaaggg>ggg	p.E1234del	CDC42BPA_ENST00000366766.2_In_Frame_Del_p.E1269del|CDC42BPA_ENST00000535525.1_In_Frame_Del_p.E1214del|CDC42BPA_ENST00000334218.5_In_Frame_Del_p.E1234del|CDC42BPA_ENST00000366767.3_In_Frame_Del_p.E1153del|CDC42BPA_ENST00000366764.2_In_Frame_Del_p.E1206del|CDC42BPA_ENST00000366765.3_In_Frame_Del_p.E1247del	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)									p.E1234D(1)|p.E1153D(1)|p.E1269D(1)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				ACAAATAACCCTTCTTCGTTTCC	0.276																																						ENST00000366769.3																			3	Substitution - Missense(3)	p.E1234D(1)|p.E1153D(1)|p.E1269D(1)	endometrium(3)	NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77						c.(3700-3705)ggg>g		CDC42 binding protein kinase alpha (DMPK-like)																																				SO:0001651	inframe_deletion	8476				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr1:227218139_227218141delCTT	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.3701_3703delAAG	1.37:g.227218142_227218144delCTT	ENSP00000355731:p.Glu1234del					CDC42BPA_ENST00000366767.3_In_Frame_Del_p.EG1153del|CDC42BPA_ENST00000366765.3_In_Frame_Del_p.EG1247del|CDC42BPA_ENST00000366764.2_In_Frame_Del_p.EG1206del|CDC42BPA_ENST00000334218.5_In_Frame_Del_p.EG1234del|CDC42BPA_ENST00000366766.2_In_Frame_Del_p.EG1269del|CDC42BPA_ENST00000535525.1_In_Frame_Del_p.EG1214del	p.EG1234del	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN			28	4992_4994	-		all_cancers(173;0.156)|Prostate(94;0.0792)	1247			CNH.			In_Frame_Del	DEL	ENST00000366769.3	37	c.3701_3703delAAG	CCDS1558.1																																																																																				0.276	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		52	230						52	230	---	---	---	---
C2orf42	54980	broad.mit.edu	37	2	70408448	70408450	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr2:70408448_70408450delAGA	ENST00000264434.2	-	3	1047_1049	c.668_670delTCT	c.(667-672)ttctgc>tgc	p.F223del	C2orf42_ENST00000420306.1_In_Frame_Del_p.F223del|C2orf42_ENST00000470096.1_5'Flank	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	223										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						TGACAGGAGCAGAAGAAGCGGCG	0.488																																						ENST00000264434.2																			0				endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						c.(667-672)tgc>t		chromosome 2 open reading frame 42																																				SO:0001651	inframe_deletion	54980							g.chr2:70408448_70408450delAGA	AK000565	CCDS1899.1	2p14	2011-03-08			ENSG00000115998	ENSG00000115998			26056	protein-coding gene	gene with protein product						12477932	Standard	XM_005264389		Approved	FLJ20558	uc002sgh.3	Q9NWW7	OTTHUMG00000129642	ENST00000264434.2:c.668_670delTCT	2.37:g.70408451_70408453delAGA	ENSP00000264434:p.Phe223del					C2orf42_ENST00000420306.1_In_Frame_Del_p.FC223del	p.FC223del	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN			3	1047_1049	-			223					D6W5G3|Q9H629	In_Frame_Del	DEL	ENST00000264434.2	37	c.668_670delTCT	CCDS1899.1																																																																																				0.488	C2orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251840.1	NM_017880		45	237						45	237	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179444038	179444038	+	Frame_Shift_Del	DEL	G	G	-			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr2:179444038delG	ENST00000591111.1	-	270	63020	c.62796delC	c.(62794-62796)cccfs	p.P20932fs	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.P13700fs|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Del_p.P22573fs|RP11-171I2.5_ENST00000604215.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.P20005fs|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.P13633fs|TTN_ENST00000460472.2_Frame_Shift_Del_p.P13508fs|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20932	Ig-like 112.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCCTTTTATGGGGATCTTAA	0.453																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(67717-67719)ccfs		titin							68.0	67.0	67.0					2																	179444038		1916	4124	6040	SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179444038delG	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.62796delC	2.37:g.179444038delG	ENSP00000465570:p.Pro20932fs					TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Del_p.P20932fs|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.P13700fs|TTN_ENST00000342992.6_Frame_Shift_Del_p.P20005fs|TTN-AS1_ENST00000592750.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.P13633fs|TTN_ENST00000460472.2_Frame_Shift_Del_p.P13508fs|TTN-AS1_ENST00000585451.1_RNA	p.P22573fs	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		320	67943	-			20932			Fibronectin type-III 63.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Del	DEL	ENST00000591111.1	37	c.67719delC																																																																																					0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		35	122						35	122	---	---	---	---
SPEF2	79925	broad.mit.edu	37	5	35705894	35705894	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr5:35705894delA	ENST00000356031.3	+	18	2803	c.2649delA	c.(2647-2649)gcafs	p.A883fs	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000509059.1_Frame_Shift_Del_p.A878fs|SPEF2_ENST00000440995.2_Frame_Shift_Del_p.A878fs	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	883					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)		p.K886fs*8(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTGAAATAGCAAAAAAAAAGA	0.269																																						ENST00000440995.2																			1	Deletion - Frameshift(1)	p.K886fs*8(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.(2632-2634)gcfs		sperm flagellar 2				35,46,3367		0,0,35,0,46,1643	20.0	18.0	18.0			-2.4	0.0	5		19	95,88,7525		0,1,94,0,87,3672	no	codingComplex	SPEF2	NM_024867.3		0,1,129,0,133,5315	A1A1,A1A2,A1R,A2A2,A2R,RR		2.3742,2.3492,2.3664			35705894	130,134,10892	1785	4033	5818	SO:0001589	frameshift_variant	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35705894delA	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.2649delA	5.37:g.35705894delA	ENSP00000348314:p.Ala883fs					SPEF2_ENST00000356031.3_Frame_Shift_Del_p.A883fs|SPEF2_ENST00000509059.1_Frame_Shift_Del_p.A878fs|CTD-2113L7.1_ENST00000510433.1_RNA	p.A878fs			Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		18	2634	+	all_lung(31;7.56e-05)		883					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Frame_Shift_Del	DEL	ENST00000356031.3	37	c.2634delA	CCDS43309.1																																																																																				0.269	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		7	77						7	77	---	---	---	---
CTB-35F21.1	0	broad.mit.edu	37	5	139076594	139076594	+	lincRNA	DEL	G	G	-			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr5:139076594delG	ENST00000515296.1	+	0	181																											GCTGCAGAGCGGGGGGCGCAT	0.692																																						ENST00000515296.1																			0																																																			0							g.chr5:139076594delG																													5.37:g.139076594delG														0	181	+									RNA	DEL	ENST00000515296.1	37																																																																																						0.692	CTB-35F21.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000372775.1			2	4						2	4	---	---	---	---
TRERF1	55809	broad.mit.edu	37	6	42196333	42196333	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr6:42196333delT	ENST00000372922.4	-	18	3915	c.3353delA	c.(3352-3354)aagfs	p.K1118fs	TRERF1_ENST00000354325.2_Frame_Shift_Del_p.K1035fs|TRERF1_ENST00000541110.1_Frame_Shift_Del_p.K1138fs|TRERF1_ENST00000372917.4_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000340840.2_Frame_Shift_Del_p.K1047fs	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1118	Interacts with CREBBP.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTTCTGAGCCTTTTGCCTCTG	0.542																																						ENST00000541110.1																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45						c.(3412-3414)agfs		transcriptional regulating factor 1							245.0	274.0	264.0					6																	42196333		2203	4300	6503	SO:0001589	frameshift_variant	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42196333delT	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.3353delA	6.37:g.42196333delT	ENSP00000362013:p.Lys1118fs					TRERF1_ENST00000372922.4_Frame_Shift_Del_p.K1118fs|TRERF1_ENST00000354325.2_Frame_Shift_Del_p.K1035fs|TRERF1_ENST00000340840.2_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000372917.4_Frame_Shift_Del_p.K1047fs	p.K1138fs			Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		18	3981	-	Colorectal(47;0.196)		1118			Interacts with CREBBP.		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Frame_Shift_Del	DEL	ENST00000372922.4	37	c.3413delA	CCDS4867.1																																																																																				0.542	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		7	1111						7	1111	---	---	---	---
ZNF318	24149	broad.mit.edu	37	6	43305258	43305261	+	Frame_Shift_Del	DEL	AATT	AATT	-			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr6:43305258_43305261delAATT	ENST00000361428.2	-	10	6552_6555	c.6475_6478delAATT	c.(6475-6480)aattctfs	p.NS2159fs	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2159					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			AGGCCTGCAGAATTAATTGTTTTT	0.446																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(6475-6480)ctfs		zinc finger protein 318																																				SO:0001589	frameshift_variant	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43305258_43305261delAATT	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.6475_6478delAATT	6.37:g.43305262_43305265delAATT	ENSP00000354964:p.Asn2159fs					ZNF318_ENST00000318149.3_Intron	p.NS2159fs	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		10	6552_6555	-			2159					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Frame_Shift_Del	DEL	ENST00000361428.2	37	c.6475_6478delAATT	CCDS4895.2																																																																																				0.446	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		19	85						19	85	---	---	---	---
TRBV6-5	28602	broad.mit.edu	37	7	142180819	142180821	+	RNA	DEL	AGG	AGG	-	rs369065333|rs146925843|rs377067235		TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr7:142180819_142180821delAGG	ENST00000390368.2	-	0	115									T cell receptor beta variable 6-5																		CCTGCAGAGAAGGAGAACAAAGC	0.557																																						ENST00000390368.2																			0																																																			0							g.chr7:142180819_142180821delAGG	L36092		7q34	2012-02-07			ENSG00000211721	ENSG00000211721		"""T cell receptors / TRB locus"""	12230	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV65, TCRBV13S1, TCRBV6S5			OTTHUMG00000158519		7.37:g.142180819_142180821delAGG														0	115	-									RNA	DEL	ENST00000390368.2	37																																																																																						0.557	TRBV6-5-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351225.1	NG_001333		7	173						7	173	---	---	---	---
SLCO1B3	28234	broad.mit.edu	37	12	21028267	21028267	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr12:21028267delT	ENST00000381545.3	+	9	1045	c.826delT	c.(826-828)tttfs	p.F278fs	LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000261196.2_Frame_Shift_Del_p.F278fs|SLCO1B3_ENST00000553473.1_Frame_Shift_Del_p.F278fs|LST3_ENST00000540229.1_Frame_Shift_Del_p.F278fs	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	278					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	TTCCATACCATTTTTTTTCTT	0.363																																						ENST00000381545.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63						c.(826-828)ttfs		solute carrier organic anion transporter family, member 1B3							138.0	135.0	136.0					12																	21028267		2203	4300	6503	SO:0001589	frameshift_variant	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21028267delT		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.826delT	12.37:g.21028267delT	ENSP00000370956:p.Phe278fs					SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000261196.2_Frame_Shift_Del_p.F278fs|SLCO1B3_ENST00000553473.1_Frame_Shift_Del_p.F278fs|LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Frame_Shift_Del_p.F278fs	p.F278fs	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN			9	1045	+	Esophageal squamous(101;0.149)		278					E7EMT8|Q5JAR4	Frame_Shift_Del	DEL	ENST00000381545.3	37	c.826delT	CCDS8684.1																																																																																				0.363	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		7	200						7	200	---	---	---	---
MBD6	114785	broad.mit.edu	37	12	57921956	57921957	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr12:57921956_57921957delCT	ENST00000355673.3	+	10	2789_2790	c.2433_2434delCT	c.(2431-2436)ccctgtfs	p.C812fs	MBD6_ENST00000431731.2_Frame_Shift_Del_p.C812fs	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	812	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CAGAAGCCCCCTGTCTACCCCC	0.574																																						ENST00000355673.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						c.(2431-2436)ccgtfs		methyl-CpG binding domain protein 6																																				SO:0001589	frameshift_variant	0					chromosome|nucleus	chromatin binding|DNA binding	g.chr12:57921956_57921957delCT	AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.2433_2434delCT	12.37:g.57921956_57921957delCT	ENSP00000347896:p.Cys812fs					MBD6_ENST00000431731.2_Frame_Shift_Del_p.PC811fs	p.PC811fs	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN			10	2789_2790	+			811			Pro-rich.		Q8N3M0|Q8NA81|Q96Q00	Frame_Shift_Del	DEL	ENST00000355673.3	37	c.2433_2434delCT	CCDS8944.1																																																																																				0.574	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			25	115						25	115	---	---	---	---
CHRNA3	1136	broad.mit.edu	37	15	78913068	78913070	+	In_Frame_Del	DEL	CAG	CAG	-	rs60706203|rs66793222|rs143833222		TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr15:78913068_78913070delCAG	ENST00000326828.5	-	1	451_453	c.67_69delCTG	c.(67-69)ctgdel	p.L23del	CHRNA3_ENST00000559941.1_5'Flank|CHRNA3_ENST00000348639.3_In_Frame_Del_p.L23del	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	23			Missing. {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:8906617, ECO:0000269|PubMed:9009220, ECO:0000269|PubMed:9921897}.		activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane potential (GO:0042391)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18					Bupropion(DB01156)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)|Varenicline(DB01273)	gcagcagagacagcagcagcagc	0.768																																						ENST00000326828.5																			0				central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(67-69)del		cholinergic receptor, nicotinic, alpha 3 (neuronal)																																				SO:0001651	inframe_deletion	0				activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78913068_78913070delCAG		CCDS10305.1, CCDS53964.1	15q24	2012-02-11	2012-02-07		ENSG00000080644	ENSG00000080644		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1957	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 3 (neuronal)"""	118503	"""cholinergic receptor, nicotinic, alpha polypeptide 3"""			2004777	Standard	NM_000743		Approved		uc002bec.3	P32297	OTTHUMG00000143863	ENST00000326828.5:c.67_69delCTG	15.37:g.78913077_78913079delCAG	ENSP00000315602:p.Leu23del					CHRNA3_ENST00000348639.3_In_Frame_Del_p.L23del	p.L23del	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN			1	451_453	-			23		Missing.			Q15823|Q4KMN8|Q86U77|Q96RH3|Q99553|Q9BQ93|Q9BRR4	In_Frame_Del	DEL	ENST00000326828.5	37	c.67_69delCTG	CCDS10305.1																																																																																				0.768	CHRNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290111.3			4	2						4	2	---	---	---	---
MIR3687-2	103504728	broad.mit.edu	37	21	9825852	9825853	+	RNA	INS	-	-	A			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr21:9825852_9825853insA	ENST00000577708.1	+	0	0				MIR3648_ENST00000581792.1_RNA	NR_037458.1																						gcggcggtggtggggggagccg	0.837																																						ENST00000581792.1																			0																																																			0							g.chr21:9825852_9825853insA																													21.37:g.9825852_9825853insA								NR_037421.1						0	21_22	+									RNA	INS	ENST00000577708.1	37																																																																																						0.837	MIR3687-201	KNOWN	basic	miRNA	miRNA				4	7						4	7	---	---	---	---
PIK3IP1	113791	broad.mit.edu	37	22	31685255	31685275	+	Intron	DEL	CCTTCCTCCCCTCCTCCTAAG	CCTTCCTCCCCTCCTCCTAAG	-	rs2073861|rs530500326	byFrequency	TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr22:31685255_31685275delCCTTCCTCCCCTCCTCCTAAG	ENST00000215912.5	-	5	771				PIK3IP1_ENST00000441972.1_Intron|PIK3IP1_ENST00000402249.3_In_Frame_Del_p.LRRRGGR205del|PIK3IP1_ENST00000487265.2_Intron	NM_052880.4	NP_443112.2	Q96FE7	P3IP1_HUMAN	phosphoinositide-3-kinase interacting protein 1						negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase catalytic subunit binding (GO:0036313)			large_intestine(2)|lung(1)|ovary(1)	4						ACTTTGTGTACCTTCCTCCCCTCCTCCTAAGAGGGCCCAGA	0.475																																						ENST00000402249.3																			0				large_intestine(2)|lung(1)|ovary(1)	4						c.(613-633)del		phosphoinositide-3-kinase interacting protein 1																																				SO:0001627	intron_variant	113791					integral to membrane		g.chr22:31685255_31685275delCCTTCCTCCCCTCCTCCTAAG	BC011049	CCDS13893.1, CCDS46690.1	22q12.2	2007-04-13			ENSG00000100100	ENSG00000100100			24942	protein-coding gene	gene with protein product						12477932	Standard	NM_052880		Approved	HGFL, MGC17330	uc003akm.3	Q96FE7	OTTHUMG00000151256	ENST00000215912.5:c.587+25CTTAGGAGGAGGGGAGGAAGG>-	22.37:g.31685255_31685275delCCTTCCTCCCCTCCTCCTAAG						PIK3IP1_ENST00000215912.5_Intron|PIK3IP1_ENST00000487265.2_Intron|PIK3IP1_ENST00000441972.1_Intron	p.LRRRGGR205del			Q96FE7	P3IP1_HUMAN			5	747_767	-			0					B4DRR9|D1MEI0|O00318|Q49A94|Q86YW2|Q8NCJ9	In_Frame_Del	DEL	ENST00000215912.5	37	c.613_633delCTTAGGAGGAGGGGAGGAAGG	CCDS13893.1																																																																																				0.475	PIK3IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321939.1	NM_052880		9	31						9	31	---	---	---	---
FMR1	2332	broad.mit.edu	37	X	147014218	147014219	+	Frame_Shift_Ins	INS	-	-	A			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chrX:147014218_147014219insA	ENST00000370475.4	+	9	944_945	c.816_817insA	c.(817-819)aaafs	p.K273fs	FMR1_ENST00000439526.2_Frame_Shift_Ins_p.K273fs|FMR1_ENST00000370471.3_Frame_Shift_Ins_p.K273fs|FMR1_ENST00000370477.1_Frame_Shift_Ins_p.K273fs|FMR1_ENST00000370470.1_Frame_Shift_Ins_p.K273fs|FMR1_ENST00000218200.8_Frame_Shift_Ins_p.K273fs|FMR1_ENST00000334557.6_Frame_Shift_Ins_p.K273fs|FMR1_ENST00000440235.2_5'UTR	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	273					central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					AGGATGCAGTGAAAAAAGCTAG	0.332									Fragile X syndrome																													ENST00000218200.8																			0				NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35						c.(814-819)gtaaaafs		fragile X mental retardation 1																																				SO:0001589	frameshift_variant	2332	Fragile X syndrome	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding	g.chrX:147014218_147014219insA	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"""premature ovarian failure 1"""	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.822dupA	X.37:g.147014224_147014224dupA	ENSP00000359506:p.Lys273fs					FMR1_ENST00000370475.4_Frame_Shift_Ins_p.VK272fs|FMR1_ENST00000370470.1_Frame_Shift_Ins_p.VK272fs|FMR1_ENST00000334557.6_Frame_Shift_Ins_p.VK272fs|FMR1_ENST00000370477.1_Frame_Shift_Ins_p.VK272fs|FMR1_ENST00000440235.2_5'UTR|FMR1_ENST00000439526.2_Frame_Shift_Ins_p.VK272fs|FMR1_ENST00000370471.3_Frame_Shift_Ins_p.VK272fs	p.VK272fs	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	Q06787	FMR1_HUMAN			9	1045_1046	+	Acute lymphoblastic leukemia(192;6.56e-05)		272					A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Frame_Shift_Ins	INS	ENST00000370475.4	37	c.816_817insA	CCDS14682.1																																																																																				0.332	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058655.1	NM_002024		56	253						56	253	---	---	---	---
