#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
SEMA3E	9723	broad.mit.edu	37	7	83119432	83119432	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr7:83119432C>G	ENST00000307792.3	-	2	741	c.274G>C	c.(274-276)Gag>Cag	p.E92Q	SEMA3E_ENST00000427262.1_Missense_Mutation_p.E32Q	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	92	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TTCTATACCTCTTTATAGCCG	0.388																																						ENST00000307792.3																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51						c.(274-276)Gag>Cag		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E							68.0	64.0	65.0					7																	83119432		2203	4300	6503	SO:0001583	missense	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:83119432C>G	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.274G>C	7.37:g.83119432C>G	ENSP00000303212:p.Glu92Gln					SEMA3E_ENST00000427262.1_Missense_Mutation_p.E32Q	p.E92Q	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN			2	741	-		Medulloblastoma(109;0.109)	92			Sema.		B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	ENST00000307792.3	37	c.274G>C	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.129438	0.77549	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514;ENST00000442159	T;T;T	0.11063	2.81;2.81;2.81	5.92	5.92	0.95590	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.165039	0.53938	D	0.000055	T	0.29355	0.0731	L	0.52573	1.65	0.58432	D	0.999999	D	0.69078	0.997	D	0.74023	0.982	T	0.00092	-1.2082	10	0.30854	T	0.27	.	20.3138	0.98647	0.0:1.0:0.0:0.0	.	92	O15041	SEM3E_HUMAN	Q	92;32;92;32	ENSP00000303212:E92Q;ENSP00000405052:E32Q;ENSP00000412867:E32Q	ENSP00000303212:E92Q	E	-	1	0	SEMA3E	82957368	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	4.721000	0.61951	2.814000	0.96858	0.585000	0.79938	GAG		0.388	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		17	36	0	0	0	1	0	17	36				
DEFB119	245932	broad.mit.edu	37	20	29966170	29966170	+	Intron	SNP	C	C	A			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr20:29966170C>A	ENST00000376321.3	-	2	181				DEFB119_ENST00000492344.1_5'UTR|DEFB119_ENST00000339144.3_Missense_Mutation_p.C29F|SNORA40_ENST00000390832.1_RNA	NM_153289.3	NP_695021.2	Q8N690	DB119_HUMAN	defensin, beta 119						defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			agtatccaggcagcatcccac	0.488																																						ENST00000339144.3																			0				large_intestine(2)|lung(1)|prostate(1)	4						c.(85-87)tGc>tTc		defensin, beta 119							216.0	171.0	186.0					20																	29966170		2203	4300	6503	SO:0001627	intron_variant	245932				defense response to bacterium	extracellular region		g.chr20:29966170C>A	AA939044	CCDS13178.1, CCDS33455.1	20q11.21	2007-02-19	2003-10-06		ENSG00000180483	ENSG00000180483		"""Defensins, beta"""	18099	protein-coding gene	gene with protein product			"""defensin, beta 120"""	DEFB120		11854508	Standard	NM_153289		Approved	DEFB-19, DEFB-20	uc002wvu.2	Q8N690	OTTHUMG00000032172	ENST00000376321.3:c.62-928G>T	20.37:g.29966170C>A						DEFB119_ENST00000376321.3_Intron|DEFB119_ENST00000492344.1_5'UTR	p.C29F			Q8N690	DB119_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		2	192	-	all_hematologic(12;0.158)		0					Q5GRG1|Q5JWP1|Q5TH42|Q8N689	Missense_Mutation	SNP	ENST00000376321.3	37	c.86G>T	CCDS13178.1	.	.	.	.	.	.	.	.	.	.	C	0.109	-1.141520	0.01728	.	.	ENSG00000180483	ENST00000339144	.	.	.	0.47	0.47	0.16747	.	.	.	.	.	T	0.41166	0.1147	.	.	.	0.09310	N	1	P	0.42518	0.782	P	0.46172	0.506	T	0.32428	-0.9907	6	0.87932	D	0	.	.	.	.	.	29	Q5TH42	.	F	29	.	ENSP00000345768:C29F	C	-	2	0	DEFB119	29429831	0.078000	0.21339	0.007000	0.13788	0.024000	0.10985	0.465000	0.22004	0.512000	0.28257	0.306000	0.20318	TGC		0.488	DEFB119-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078514.1	NM_153289		17	180	1	0	2.4624e-09	1	2.57432e-09	17	180				
DDX19A	55308	broad.mit.edu	37	16	70400656	70400656	+	Silent	SNP	T	T	C	rs142443034		TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr16:70400656T>C	ENST00000302243.7	+	9	1075	c.912T>C	c.(910-912)gaT>gaC	p.D304D	DDX19A_ENST00000443119.2_Silent_p.D214D|DDX19A_ENST00000417604.2_Silent_p.D273D	NM_018332.3	NP_060802.1	Q9NUU7	DD19A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A	304	C-terminal lobe. {ECO:0000250}.				mRNA transport (GO:0051028)|positive regulation of apoptotic process (GO:0043065)|protein transport (GO:0015031)|response to zinc ion (GO:0010043)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|urinary_tract(1)	11		Ovarian(137;0.221)				AGACCCTGGATACCATCAAGC	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		22007	0.0		0.0	False		,,,				2504	0.001					ENST00000302243.7																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(3)|urinary_tract(1)	11						c.(910-912)gaT>gaC		DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A		C		2,4394	825.1+/-416.5	0,2,2196	201.0	170.0	181.0		912	0.9	1.0	16	dbSNP_134	181	1,8599	819.2+/-406.8	0,1,4299	no	coding-synonymous	DDX19A	NM_018332.3		0,3,6495	CC,CT,TT		0.0116,0.0455,0.0231		304/479	70400656	3,12993	2198	4300	6498	SO:0001819	synonymous_variant	55308							g.chr16:70400656T>C	AF183422	CCDS10889.1	16q22.1	2012-02-23	2012-02-23	2005-07-13	ENSG00000168872	ENSG00000168872		"""DEAD-boxes"""	25628	protein-coding gene	gene with protein product			"""DEAD (Asp-Glu-Ala-As) box polypeptide 19-like"""	DDX19L		12477932	Standard	NM_018332		Approved	FLJ11126		Q9NUU7	OTTHUMG00000137579	ENST00000302243.7:c.912T>C	16.37:g.70400656T>C						DDX19A_ENST00000417604.2_Silent_p.D273D|DDX19A_ENST00000443119.2_Silent_p.D214D	p.D304D	NM_018332.3	NP_060802.1					9	1075	+		Ovarian(137;0.221)						B2RPL0|B4DRZ7|Q53FM0	Silent	SNP	ENST00000302243.7	37	c.912T>C	CCDS10889.1																																																																																				0.502	DDX19A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268967.2	NM_018332		25	101	0	0	0	1	0	25	101				
RAB27A	5873	broad.mit.edu	37	15	55497845	55497845	+	Missense_Mutation	SNP	T	T	A			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr15:55497845T>A	ENST00000396307.2	-	6	777	c.526A>T	c.(526-528)Atg>Ttg	p.M176L	RAB27A_ENST00000336787.1_Missense_Mutation_p.M176L|RAB27A_ENST00000564609.1_Missense_Mutation_p.M176L|RAB27A_ENST00000569493.1_Missense_Mutation_p.M176L	NM_004580.4	NP_004571.2	P51159	RB27A_HUMAN	RAB27A, member RAS oncogene family	176					antigen processing and presentation (GO:0019882)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cytotoxic T cell degranulation (GO:0043316)|exocytosis (GO:0006887)|exosomal secretion (GO:1990182)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|multivesicular body organization (GO:0036257)|multivesicular body sorting pathway (GO:0071985)|natural killer cell degranulation (GO:0043320)|positive regulation of exocytosis (GO:0045921)|positive regulation of gene expression (GO:0010628)|protein targeting (GO:0006605)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle transport (GO:0048489)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|exocytic vesicle (GO:0070382)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|photoreceptor outer segment (GO:0001750)|secretory granule membrane (GO:0030667)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		TCCAGAAGCATCTCAATTGCT	0.473																																						ENST00000396307.2																			0				endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9						c.(526-528)Atg>Ttg		RAB27A, member RAS oncogene family							311.0	244.0	267.0					15																	55497845		2193	4292	6485	SO:0001583	missense	5873				small GTPase mediated signal transduction	dendrite|exocytic vesicle|late endosome|lysosome|melanosome	GTP binding|GTPase activity	g.chr15:55497845T>A	U38654	CCDS10153.1	15q15-q21.1	2014-09-17			ENSG00000069974	ENSG00000069974		"""RAB, member RAS oncogene"""	9766	protein-coding gene	gene with protein product		603868				7592656	Standard	NM_183235		Approved	RAB27, RAM, GS2, HsT18676	uc002acq.3	P51159	OTTHUMG00000131959	ENST00000396307.2:c.526A>T	15.37:g.55497845T>A	ENSP00000379601:p.Met176Leu					RAB27A_ENST00000564609.1_Missense_Mutation_p.M176L|RAB27A_ENST00000569493.1_Missense_Mutation_p.M176L|RAB27A_ENST00000336787.1_Missense_Mutation_p.M176L	p.M176L	NM_004580.4	NP_004571.2	P51159	RB27A_HUMAN		all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)	6	777	-			176					O00195|Q6FI40|Q9UIR9|Q9Y5U3	Missense_Mutation	SNP	ENST00000396307.2	37	c.526A>T	CCDS10153.1	.	.	.	.	.	.	.	.	.	.	T	10.88	1.474311	0.26423	.	.	ENSG00000069974	ENST00000396307;ENST00000396304;ENST00000336787	T;T	0.72835	-0.69;-0.69	5.49	4.37	0.52481	Small GTP-binding protein domain (1);	0.558467	0.21586	N	0.072179	T	0.44117	0.1278	N	0.01817	-0.705	0.23809	N	0.996783	B	0.02656	0.0	B	0.01281	0.0	T	0.40232	-0.9574	10	0.54805	T	0.06	-12.0566	10.3957	0.44198	0.0:0.0763:0.0:0.9237	.	176	P51159	RB27A_HUMAN	L	176;168;176	ENSP00000379601:M176L;ENSP00000337761:M176L	ENSP00000337761:M176L	M	-	1	0	RAB27A	53285137	0.792000	0.28813	0.983000	0.44433	0.995000	0.86356	1.515000	0.35845	0.934000	0.37316	0.533000	0.62120	ATG		0.473	RAB27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254918.1	NM_004580, NM_183236		27	44	0	0	0	1	0	27	44				
ITPR3	3710	broad.mit.edu	37	6	33638268	33638268	+	Missense_Mutation	SNP	G	G	A	rs577602247		TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr6:33638268G>A	ENST00000374316.5	+	20	3416	c.2356G>A	c.(2356-2358)Gtg>Atg	p.V786M	ITPR3_ENST00000605930.1_Missense_Mutation_p.V786M			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	786					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|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)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	GCACGTGCACGTGGACCGTGA	0.622																																						ENST00000374316.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(2356-2358)Gtg>Atg		inositol 1,4,5-trisphosphate receptor, type 3							101.0	88.0	92.0					6																	33638268		2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33638268G>A	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.2356G>A	6.37:g.33638268G>A	ENSP00000363435:p.Val786Met					ITPR3_ENST00000605930.1_Missense_Mutation_p.V786M	p.V786M			Q14573	ITPR3_HUMAN			20	3416	+			786					Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.2356G>A	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	30	5.052263	0.93793	.	.	ENSG00000096433	ENST00000374316	D	0.95412	-3.7	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	D	0.97732	0.9256	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98753	1.0721	10	0.87932	D	0	-27.7856	17.8678	0.88801	0.0:0.0:1.0:0.0	.	786	Q14573	ITPR3_HUMAN	M	786	ENSP00000363435:V786M	ENSP00000363435:V786M	V	+	1	0	ITPR3	33746246	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	9.748000	0.98867	2.209000	0.71365	0.563000	0.77884	GTG		0.622	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		50	101	0	0	0	1	0	50	101				
EFCAB12	90288	broad.mit.edu	37	3	129123129	129123129	+	Missense_Mutation	SNP	C	C	T	rs199684655	byFrequency	TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr3:129123129C>T	ENST00000505956.1	-	7	1529	c.1367G>A	c.(1366-1368)cGg>cAg	p.R456Q	EFCAB12_ENST00000326085.3_Missense_Mutation_p.R456Q	NM_207307.1	NP_997190.1	Q6NXP0	EFC12_HUMAN	EF-hand calcium binding domain 12	456							calcium ion binding (GO:0005509)										GCCCTGGGACCGGAGCAGAGC	0.562													C|||	7	0.00139776	0.0053	0.0	5008	,	,		16354	0.0		0.0	False		,,,				2504	0.0					ENST00000505956.1																			0											c.(1366-1368)cGg>cAg		EF-hand calcium binding domain 12		C	GLN/ARG	6,3858		0,6,1926	80.0	89.0	86.0		1367	-5.4	0.0	3		86	2,8244		0,2,4121	yes	missense	C3orf25	NM_207307.1	43	0,8,6047	TT,TC,CC		0.0243,0.1553,0.0661	benign	456/573	129123129	8,12102	1932	4123	6055	SO:0001583	missense	90288							g.chr3:129123129C>T	AK096099	CCDS54638.1	3q21.3	2013-01-10	2012-07-20	2012-07-20	ENSG00000172771	ENSG00000172771		"""EF-hand domain containing"""	28061	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 25"""	C3orf25			Standard	NM_207307		Approved		uc003emg.3	Q6NXP0	OTTHUMG00000159464	ENST00000505956.1:c.1367G>A	3.37:g.129123129C>T	ENSP00000420854:p.Arg456Gln					EFCAB12_ENST00000326085.3_Missense_Mutation_p.R456Q	p.R456Q	NM_207307.1	NP_997190.1					7	1529	-								Q69YX4	Missense_Mutation	SNP	ENST00000505956.1	37	c.1367G>A	CCDS54638.1	.	.	.	.	.	.	.	.	.	.	C	6.197	0.404427	0.11754	0.001553	2.43E-4	ENSG00000172771	ENST00000505956;ENST00000326085	T;T	0.02737	4.18;4.18	3.34	-5.45	0.02616	.	2.583810	0.02424	N	0.082905	T	0.01940	0.0061	N	0.14661	0.345	0.09310	N	1	B	0.21905	0.062	B	0.10450	0.005	T	0.43163	-0.9408	10	0.27082	T	0.32	-2.5703	6.3404	0.21319	0.1501:0.2231:0.0:0.6267	.	456	Q6NXP0	CC025_HUMAN	Q	456	ENSP00000420854:R456Q;ENSP00000324241:R456Q	ENSP00000324241:R456Q	R	-	2	0	C3orf25	130605819	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.254000	0.01183	-1.519000	0.01775	-1.028000	0.02416	CGG		0.562	EFCAB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355530.1	NM_207307		55	59	0	0	0	1	0	55	59				
HIST1H1E	3008	broad.mit.edu	37	6	26156726	26156726	+	Silent	SNP	T	T	A			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr6:26156726T>A	ENST00000304218.3	+	1	168	c.108T>A	c.(106-108)tcT>tcA	p.S36S	HIST1H2BD_ENST00000289316.2_5'Flank|HIST1H2BD_ENST00000377777.4_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	36	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						GCAAAGCGTCTGGGCCCCCGG	0.662																																						ENST00000304218.3																			0				NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						c.(106-108)tcT>tcA		histone cluster 1, H1e							23.0	30.0	28.0					6																	26156726		2197	4295	6492	SO:0001819	synonymous_variant	3008				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26156726T>A	M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"""Histones / Replication-dependent"""	4718	protein-coding gene	gene with protein product		142220	"""H1 histone family, member 4"", ""histone 1, H1e"""	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.108T>A	6.37:g.26156726T>A							p.S36S	NM_005321.2	NP_005312.1	P10412	H14_HUMAN			1	168	+			36			H15.		Q4VB25	Silent	SNP	ENST00000304218.3	37	c.108T>A	CCDS4586.1																																																																																				0.662	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	NM_005321		47	31	0	0	0	1	0	47	31				
GRIN2C	2905	broad.mit.edu	37	17	72845967	72845967	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr17:72845967C>T	ENST00000293190.5	-	7	1743	c.1597G>A	c.(1597-1599)Gtg>Atg	p.V533M	GRIN2C_ENST00000578159.1_5'Flank|GRIN2C_ENST00000347612.4_Missense_Mutation_p.V533M	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	533					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GCCACCATCACACTGATGCCC	0.637																																						ENST00000293190.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33						c.(1597-1599)Gtg>Atg		glutamate receptor, ionotropic, N-methyl D-aspartate 2C	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)						100.0	90.0	94.0					17																	72845967		2203	4300	6503	SO:0001583	missense	2905				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity	g.chr17:72845967C>T		CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.1597G>A	17.37:g.72845967C>T	ENSP00000293190:p.Val533Met					GRIN2C_ENST00000347612.4_Missense_Mutation_p.V533M	p.V533M	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN			7	1743	-	all_lung(278;0.172)|Lung NSC(278;0.207)		533					B2RTT1	Missense_Mutation	SNP	ENST00000293190.5	37	c.1597G>A	CCDS32724.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.935313	0.52866	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	T;T	0.54279	1.49;0.58	4.19	4.19	0.49359	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1);	0.000000	0.64402	D	0.000001	T	0.66886	0.2835	L	0.46819	1.47	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.71384	-0.4609	10	0.87932	D	0	.	17.0588	0.86541	0.0:1.0:0.0:0.0	.	567;533	Q8IW23;Q14957	.;NMDE3_HUMAN	M	533;567	ENSP00000293190:V533M;ENSP00000338645:V567M	ENSP00000293190:V533M	V	-	1	0	GRIN2C	70357562	1.000000	0.71417	0.941000	0.38009	0.966000	0.64601	7.507000	0.81676	2.313000	0.78055	0.491000	0.48974	GTG		0.637	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1			8	103	0	0	0	1	0	8	103				
PRDX6	9588	broad.mit.edu	37	1	173450467	173450467	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr1:173450467G>T	ENST00000340385.5	+	2	230	c.98G>T	c.(97-99)tGg>tTg	p.W33L	PRDX6_ENST00000470017.1_3'UTR	NM_004905.2	NP_004896.1	P30041	PRDX6_HUMAN	peroxiredoxin 6	33	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				hydrogen peroxide catabolic process (GO:0042744)|phospholipid catabolic process (GO:0009395)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|membrane (GO:0016020)	antioxidant activity (GO:0016209)|glutathione peroxidase activity (GO:0004602)|peroxiredoxin activity (GO:0051920)|phospholipase A2 activity (GO:0004623)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	12						CCTTTCAGATGGGGCATTCTC	0.453																																						ENST00000340385.5																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	12						c.(97-99)tGg>tTg		peroxiredoxin 6							91.0	91.0	91.0					1																	173450467		2203	4300	6503	SO:0001583	missense	9588				cell redox homeostasis|phospholipid catabolic process	cytoplasmic membrane-bounded vesicle|cytosol|lysosome	peroxiredoxin activity|phospholipase A2 activity|protein binding	g.chr1:173450467G>T	D14662	CCDS1307.1	1q24.1	2008-02-05			ENSG00000117592	ENSG00000117592			16753	protein-coding gene	gene with protein product		602316				11233154	Standard	NM_004905		Approved	AOP2, KIAA0106, 1-Cys, NSGPx, PRX, aiPLA2, MGC46173, p29	uc001giy.1	P30041	OTTHUMG00000034804	ENST00000340385.5:c.98G>T	1.37:g.173450467G>T	ENSP00000342026:p.Trp33Leu					PRDX6_ENST00000470017.1_3'UTR	p.W33L	NM_004905.2	NP_004896.1	P30041	PRDX6_HUMAN			2	230	+			33			Thioredoxin.		A8JZY7|P32077|Q5TAH4|Q5ZEZ8	Missense_Mutation	SNP	ENST00000340385.5	37	c.98G>T	CCDS1307.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025747	0.93518	.	.	ENSG00000117592	ENST00000340385	T	0.15603	2.41	5.45	5.45	0.79879	Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.46776	0.1410	H	0.98646	4.29	0.80722	D	1	P	0.43788	0.817	P	0.51487	0.671	T	0.65442	-0.6167	10	0.66056	D	0.02	-1.305	18.4047	0.90529	0.0:0.0:1.0:0.0	.	33	P30041	PRDX6_HUMAN	L	33	ENSP00000342026:W33L	ENSP00000342026:W33L	W	+	2	0	PRDX6	171717090	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.012000	0.93624	2.721000	0.93114	0.655000	0.94253	TGG		0.453	PRDX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084222.1	NM_004905		5	80	1	0	4.096e-09	1	4.23407e-09	5	80				
POM121L9P	29774	broad.mit.edu	37	22	24659591	24659591	+	RNA	SNP	A	A	G			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr22:24659591A>G	ENST00000414583.2	+	0	3116					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		ACTCACTGACATCGAAGGCTG	0.632																																						ENST00000414583.2																			0																																																			0							g.chr22:24659591A>G	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659591A>G								NR_003714.1						0	3116	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.632	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		4	32	0	0	0	1	0	4	32				
IDE	3416	broad.mit.edu	37	10	94214273	94214273	+	Silent	SNP	G	G	T			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr10:94214273G>T	ENST00000265986.6	-	25	3044	c.2988C>A	c.(2986-2988)acC>acA	p.T996T	IDE_ENST00000496903.1_5'UTR|IDE_ENST00000371581.5_Silent_p.T441T	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	996					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""""""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"""	GCTTGAATTCGGTCATGTTCT	0.408																																						ENST00000265986.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33						c.(2986-2988)acC>acA		insulin-degrading enzyme	Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						139.0	136.0	137.0					10																	94214273		2203	4300	6503	SO:0001819	synonymous_variant	3416				beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding	g.chr10:94214273G>T	M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"""insulysin"""	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.2988C>A	10.37:g.94214273G>T						IDE_ENST00000371581.5_Silent_p.T441T|IDE_ENST00000496903.1_5'UTR	p.T996T	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN			25	3044	-			996					B2R721|B7ZAU2|D3DR35|Q5T5N2	Silent	SNP	ENST00000265986.6	37	c.2988C>A	CCDS7421.1																																																																																				0.408	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1	NM_004969		35	46	1	0	3.62531e-18	1	3.97057e-18	35	46				
SNHG14	104472715	broad.mit.edu	37	15	25475911	25475911	+	RNA	SNP	G	G	A			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr15:25475911G>A	ENST00000453082.2	+	0	1506				SNORD115-32_ENST00000364079.1_RNA|SNORD115-33_ENST00000363723.1_RNA|SNORD115-34_ENST00000362441.1_RNA	NR_003343.1				small nucleolar RNA host gene 14 (non-protein coding)																		CCTTCCTGGCGCCCTGGACTG	0.597																																						ENST00000453082.2																			0																																																			0							g.chr15:25475911G>A			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25475911G>A								NR_003343.1						0	1506	+									RNA	SNP	ENST00000453082.2	37																																																																																						0.597	SNHG14-003	KNOWN	non_canonical_TEC|basic	antisense	processed_transcript	OTTHUMT00000126730.2			32	41	0	0	0	1	0	32	41				
DNAI2	64446	broad.mit.edu	37	17	72301394	72301394	+	Missense_Mutation	SNP	G	G	A	rs372196782		TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr17:72301394G>A	ENST00000311014.6	+	9	1091	c.1024G>A	c.(1024-1026)Gtc>Atc	p.V342I	RP11-647F2.2_ENST00000585167.1_RNA|DNAI2_ENST00000307504.5_Missense_Mutation_p.V199I|AC103809.1_ENST00000516976.1_RNA|DNAI2_ENST00000446837.2_Missense_Mutation_p.V342I|DNAI2_ENST00000582036.1_Missense_Mutation_p.V342I|DNAI2_ENST00000579490.1_Missense_Mutation_p.V399I			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	342					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GCAGGGCATCGTCATCTCCTG	0.577									Kartagener syndrome																													ENST00000579490.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(1195-1197)Gtc>Atc		dynein, axonemal, intermediate chain 2		G	ILE/VAL,ILE/VAL	0,4406		0,0,2203	93.0	74.0	81.0		1024,1024	3.1	0.8	17		81	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	DNAI2	NM_001172810.1,NM_023036.4	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	342/594,342/606	72301394	1,13005	2203	4300	6503	SO:0001583	missense	64446	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	g.chr17:72301394G>A	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"""Axonemal dyneins"", ""WD repeat domain containing"""	18744	protein-coding gene	gene with protein product	"""dynein intermediate chain 2"""	605483	"""dynein, axonemal, intermediate polypeptide 2"""			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.1024G>A	17.37:g.72301394G>A	ENSP00000308312:p.Val342Ile					DNAI2_ENST00000311014.6_Missense_Mutation_p.V342I|DNAI2_ENST00000446837.2_Missense_Mutation_p.V342I|DNAI2_ENST00000582036.1_Missense_Mutation_p.V342I|DNAI2_ENST00000307504.5_Missense_Mutation_p.V199I	p.V399I			Q9GZS0	DNAI2_HUMAN			8	1330	+			342					C9J0S6|Q8IUW4|Q9H179|Q9NT53	Missense_Mutation	SNP	ENST00000311014.6	37	c.1195G>A	CCDS11697.1	.	.	.	.	.	.	.	.	.	.	G	1.131	-0.652388	0.03480	0.0	1.16E-4	ENSG00000171595	ENST00000311014;ENST00000307504;ENST00000446837	T;T;T	0.70045	-0.45;-0.45;-0.45	5.06	3.09	0.35607	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.245893	0.41294	N	0.000918	T	0.46425	0.1392	N	0.17764	0.52	0.32559	N	0.531412	B	0.12013	0.005	B	0.14023	0.01	T	0.45396	-0.9264	10	0.10636	T	0.68	-55.354	11.1187	0.48275	0.2235:0.0:0.7765:0.0	.	342	Q9GZS0	DNAI2_HUMAN	I	342;199;342	ENSP00000308312:V342I;ENSP00000302929:V199I;ENSP00000400252:V342I	ENSP00000302929:V199I	V	+	1	0	DNAI2	69812989	0.994000	0.37717	0.782000	0.31804	0.415000	0.31203	2.193000	0.42658	0.558000	0.29135	-1.143000	0.01870	GTC		0.577	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	NM_023036		4	103	0	0	0	1	0	4	103				
TDRD6	221400	broad.mit.edu	37	6	46660106	46660106	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr6:46660106T>C	ENST00000316081.6	+	1	4241	c.4241T>C	c.(4240-4242)tTg>tCg	p.L1414S	TDRD6_ENST00000544460.1_Missense_Mutation_p.L1414S	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1414					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TTGCCGGGGTTGTGCATTCAT	0.408																																						ENST00000544460.1																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(4240-4242)tTg>tCg		tudor domain containing 6							192.0	198.0	196.0					6																	46660106		2202	4299	6501	SO:0001583	missense	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46660106T>C	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.4241T>C	6.37:g.46660106T>C	ENSP00000346065:p.Leu1414Ser					TDRD6_ENST00000316081.6_Missense_Mutation_p.L1414S	p.L1414S	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	4495	+			1414					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	c.4241T>C	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	T	10.73	1.433714	0.25813	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.11385	2.78;2.78	5.77	5.77	0.91146	Maternal tudor protein (1);	0.602754	0.17556	N	0.169969	T	0.22975	0.0555	M	0.84433	2.695	0.35361	D	0.788218	D;D	0.63046	0.99;0.992	P;P	0.61800	0.83;0.894	T	0.12734	-1.0536	10	0.22109	T	0.4	-8.9271	16.383	0.83481	0.0:0.0:0.0:1.0	.	1414;1414	F5H5M3;O60522	.;TDRD6_HUMAN	S	1414	ENSP00000443299:L1414S;ENSP00000346065:L1414S	ENSP00000346065:L1414S	L	+	2	0	TDRD6	46768065	0.983000	0.35010	0.233000	0.24025	0.020000	0.10135	4.245000	0.58734	2.326000	0.78906	0.533000	0.62120	TTG		0.408	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		109	92	0	0	0	1	0	109	92				
ANAPC2	29882	broad.mit.edu	37	9	140082874	140082874	+	Silent	SNP	C	C	A			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr9:140082874C>A	ENST00000323927.2	-	1	115	c.111G>T	c.(109-111)ctG>ctT	p.L37L	SSNA1_ENST00000322310.5_5'Flank	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	37					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		TCACCAGCCCCAGCGCAGCCG	0.706																																						ENST00000323927.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15						c.(109-111)ctG>ctT		anaphase promoting complex subunit 2							9.0	13.0	11.0					9																	140082874		2157	4242	6399	SO:0001819	synonymous_variant	29882				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity	g.chr9:140082874C>A	AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"""Anaphase promoting complex subunits"""	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.111G>T	9.37:g.140082874C>A							p.L37L	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)	1	115	-	all_cancers(76;0.0926)		37					Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Silent	SNP	ENST00000323927.2	37	c.111G>T	CCDS7033.1																																																																																				0.706	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055315.1	NM_013366		3	24	1	0	6.4e-05	1	6.54222e-05	3	24				
SYNRG	11276	broad.mit.edu	37	17	35902074	35902074	+	Splice_Site	SNP	C	C	T			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr17:35902074C>T	ENST00000339208.6	-	15	3342	c.3202G>A	c.(3202-3204)Gga>Aga	p.G1068R	SYNRG_ENST00000346661.4_Splice_Site_p.G1068R|SYNRG_ENST00000394378.2_Splice_Site_p.G990R|SYNRG_ENST00000345615.4_Splice_Site_p.G990R|SYNRG_ENST00000585472.1_Splice_Site_p.G989R|SYNRG_ENST00000591288.1_Splice_Site_p.G862R|SYNRG_ENST00000502449.2_Splice_Site_p.G945R	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1068					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGCTACTCACCTTGAACAGAA	0.373																																						ENST00000339208.6																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.e15+1		synergin, gamma							93.0	95.0	94.0					17																	35902074		2203	4300	6503	SO:0001630	splice_region_variant	11276				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	g.chr17:35902074C>T	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.3202+1G>A	17.37:g.35902074C>T						SYNRG_ENST00000394378.2_Splice_Site_p.G990_splice|SYNRG_ENST00000591288.1_Splice_Site_p.G862_splice|SYNRG_ENST00000346661.4_Splice_Site_p.G1068_splice|SYNRG_ENST00000345615.4_Splice_Site_p.G990_splice|SYNRG_ENST00000585472.1_Splice_Site_p.G989_splice|SYNRG_ENST00000502449.2_Splice_Site_p.G945_splice	p.G1068_splice	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN			15	3342	-			1068					A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Splice_Site	SNP	ENST00000339208.6	37	c.3202_splice	CCDS11321.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.928672	0.92389	.	.	ENSG00000006114	ENST00000346661;ENST00000339208;ENST00000345615;ENST00000502449;ENST00000394378	T;T	0.58652	0.85;0.32	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.75466	0.3853	M	0.63843	1.955	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	T	0.75836	-0.3177	10	0.72032	D	0.01	-11.0239	19.2671	0.93993	0.0:1.0:0.0:0.0	.	862;990;990;990;1068;1068	B7ZKZ2;Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;.;SYNRG_HUMAN	R	1068;862;1068;990;990	ENSP00000005279:G1068R;ENSP00000377903:G990R	ENSP00000343610:G862R	G	-	1	0	SYNRG	32976187	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.792000	0.85828	2.788000	0.95919	0.650000	0.86243	GGA		0.373	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247	Missense_Mutation	49	57	0	0	0	1	0	49	57				
FLRT2	23768	broad.mit.edu	37	14	86088048	86088048	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr14:86088048G>A	ENST00000330753.4	+	2	957	c.190G>A	c.(190-192)Ggc>Agc	p.G64S	FLRT2_ENST00000554746.1_Missense_Mutation_p.G64S	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	64					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GATCCCGGAGGGCGTAACTGT	0.517																																						ENST00000330753.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73						c.(190-192)Ggc>Agc		fibronectin leucine rich transmembrane protein 2							137.0	124.0	128.0					14																	86088048		2203	4300	6503	SO:0001583	missense	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86088048G>A	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.190G>A	14.37:g.86088048G>A	ENSP00000332879:p.Gly64Ser					FLRT2_ENST00000554746.1_Missense_Mutation_p.G64S	p.G64S	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	957	+			64					A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	c.190G>A	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.719153	0.68844	.	.	ENSG00000185070	ENST00000330753;ENST00000554746	T;T	0.02158	4.42;4.42	5.73	5.73	0.89815	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.05318	0.0141	N	0.25647	0.755	0.80722	D	1	D	0.56968	0.978	P	0.54759	0.76	T	0.59348	-0.7471	10	0.30854	T	0.27	-19.3132	19.9036	0.96999	0.0:0.0:1.0:0.0	.	64	O43155	FLRT2_HUMAN	S	64	ENSP00000332879:G64S;ENSP00000451050:G64S	ENSP00000332879:G64S	G	+	1	0	FLRT2	85157801	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.061000	0.89467	2.706000	0.92434	0.655000	0.94253	GGC		0.517	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			37	108	0	0	0	1	0	37	108				
IGLV3-12	28802	broad.mit.edu	37	22	23114830	23114830	+	RNA	SNP	A	A	G			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr22:23114830A>G	ENST00000390313.2	+	0	111									immunoglobulin lambda variable 3-12																		TGGCCACAGCACAGATGGCCA	0.498																																						ENST00000390313.2																			0																				29.0	32.0	31.0					22																	23114830		2003	4166	6169			0							g.chr22:23114830A>G	Z73658		22q11.2	2012-02-08			ENSG00000211667	ENSG00000211667		"""Immunoglobulins / IGL locus"""	5898	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151233		22.37:g.23114830A>G														0	111	+									RNA	SNP	ENST00000390313.2	37																																																																																						0.498	IGLV3-12-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321838.1	NG_000002		5	23	0	0	0	1	0	5	23				
CUX1	1523	broad.mit.edu	37	7	101840287	101840287	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr7:101840287G>A	ENST00000292535.7	+	15	1634	c.1596G>A	c.(1594-1596)atG>atA	p.M532I	CUX1_ENST00000547394.2_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.M430I|CUX1_ENST00000292538.4_Intron|SNORA48_ENST00000517015.1_RNA|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000360264.3_Missense_Mutation_p.M543I|CUX1_ENST00000549414.2_Missense_Mutation_p.M532I|CUX1_ENST00000550008.2_Missense_Mutation_p.M532I|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.M430I	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	532					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TCAATGGCATGGCCCCATCCC	0.522																																						ENST00000360264.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.(1627-1629)atG>atA		cut-like homeobox 1							87.0	89.0	88.0					7																	101840287		2203	4300	6503	SO:0001583	missense	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101840287G>A	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.1596G>A	7.37:g.101840287G>A	ENSP00000292535:p.Met532Ile					CUX1_ENST00000437600.4_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.M532I|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.M430I|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.M532I|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.M430I|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000550008.2_Missense_Mutation_p.M532I	p.M543I	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN			15	1649	+			532					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	c.1629G>A	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.477932	0.26511	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T	0.59364	0.28;0.27;0.28;0.29;0.27;0.3	5.71	5.71	0.89125	.	0.431206	0.23985	N	0.042627	T	0.44891	0.1315	N	0.22421	0.69	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.25710	-1.0124	10	0.30854	T	0.27	-8.5237	15.4579	0.75330	0.0:0.0:0.8608:0.1392	.	532;543	P39880;P39880-3	CUX1_HUMAN;.	I	543;532;532;532;430;430	ENSP00000353401:M543I;ENSP00000292535:M532I;ENSP00000446630:M532I;ENSP00000447373:M532I;ENSP00000450125:M430I;ENSP00000451558:M430I	ENSP00000292535:M532I	M	+	3	0	CUX1	101627007	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.923000	0.56469	2.691000	0.91804	0.561000	0.74099	ATG		0.522	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		10	146	0	0	0	1	0	10	146				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609		TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr21:14414902G>A	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		CCAGCTTGACGTCCTTGATGG	0.443																																						ENST00000507941.1																			0																																																			0							g.chr21:14414902G>A	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414902G>A														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.443	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		4	32	0	0	0	1	0	4	32				
PARP12	64761	broad.mit.edu	37	7	139734050	139734050	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr7:139734050G>A	ENST00000263549.3	-	8	2279	c.1406C>T	c.(1405-1407)aCg>aTg	p.T469M	PARP12_ENST00000470515.1_5'UTR	NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	469						nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					TTGCATGGTCGTCACATCCTG	0.493																																						ENST00000263549.3																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19						c.(1405-1407)aCg>aTg		poly (ADP-ribose) polymerase family, member 12							80.0	71.0	74.0					7																	139734050		2203	4300	6503	SO:0001583	missense	64761					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding	g.chr7:139734050G>A	AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	21919	protein-coding gene	gene with protein product		612481	"""zinc finger CCCH-type domain containing 1"""	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.1406C>T	7.37:g.139734050G>A	ENSP00000263549:p.Thr469Met					PARP12_ENST00000470515.1_5'UTR	p.T469M	NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN			8	2279	-	Melanoma(164;0.0142)		469					Q9H610|Q9NP36|Q9NTI3	Missense_Mutation	SNP	ENST00000263549.3	37	c.1406C>T	CCDS5857.1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.602724	0.28534	.	.	ENSG00000059378	ENST00000263549;ENST00000489809	T;T	0.46063	3.19;0.88	5.6	1.69	0.24217	.	0.517174	0.21860	N	0.068059	T	0.24392	0.0591	N	0.22421	0.69	0.22378	N	0.999151	P	0.43578	0.811	B	0.38056	0.264	T	0.11494	-1.0585	10	0.66056	D	0.02	.	6.9347	0.24461	0.1378:0.0:0.3097:0.5525	.	469	Q9H0J9	PAR12_HUMAN	M	469;107	ENSP00000263549:T469M;ENSP00000417606:T107M	ENSP00000263549:T469M	T	-	2	0	PARP12	139380519	0.390000	0.25213	0.717000	0.30585	0.799000	0.45148	0.645000	0.24782	0.406000	0.25560	-0.410000	0.06199	ACG		0.493	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348413.1	NM_022750		13	22	0	0	0	1	0	13	22				
C19orf10	56005	broad.mit.edu	37	19	4660690	4660690	+	Silent	SNP	G	G	A			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr19:4660690G>A	ENST00000262947.3	-	4	395	c.360C>T	c.(358-360)gcC>gcT	p.A120A	C19orf10_ENST00000599630.1_Silent_p.A120A	NM_019107.3	NP_061980.1	Q969H8	CS010_HUMAN	chromosome 19 open reading frame 10	120					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.015)		CGTAGGCCATGGCGTACTCAA	0.617																																						ENST00000262947.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2						c.(358-360)gcC>gcT		chromosome 19 open reading frame 10							119.0	105.0	110.0					19																	4660690		2203	4300	6503	SO:0001819	synonymous_variant	56005					ER-Golgi intermediate compartment|extracellular region		g.chr19:4660690G>A	AF282264	CCDS12133.1	19p13.3	2013-11-27	2003-06-25	2003-06-27	ENSG00000074842	ENSG00000074842			16948	protein-coding gene	gene with protein product		606746	"""interleukin 27 working designation"""	IL27, IL27w		17362502, 21128247	Standard	NM_019107		Approved	R33729_1, IL25, SF20, IL-25, IL-27	uc002may.3	Q969H8		ENST00000262947.3:c.360C>T	19.37:g.4660690G>A						C19orf10_ENST00000599630.1_Silent_p.A120A	p.A120A	NM_019107.3	NP_061980.1	Q969H8	CS010_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.015)	4	395	-		Hepatocellular(1079;0.137)	120					D6W628|O75256|O75272|Q9BTK7|Q9NP69	Silent	SNP	ENST00000262947.3	37	c.360C>T	CCDS12133.1																																																																																				0.617	C19orf10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458937.1	NM_019107		5	111	0	0	0	1	0	5	111				
NOL6	65083	broad.mit.edu	37	9	33463111	33463111	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr9:33463111G>A	ENST00000455041.2	-	24	3114	c.3055C>T	c.(3055-3057)Ctt>Ttt	p.L1019F	NOL6_ENST00000464829.1_Intron|NOL6_ENST00000379471.2_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	1071					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		TAGAAGAAAAGGGCCAGATCC	0.552																																						ENST00000455041.2																			0				endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27						c.(3055-3057)Ctt>Ttt		nucleolar protein 6 (RNA-associated)							55.0	52.0	53.0					9																	33463111		2203	4300	6503	SO:0001583	missense	65083				rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	g.chr9:33463111G>A	AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"""nucleolar protein family 6 (RNA-associated)"""			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000455041.2:c.3055C>T	9.37:g.33463111G>A	ENSP00000395915:p.Leu1019Phe					NOL6_ENST00000464829.1_Intron|NOL6_ENST00000379471.2_Intron	p.L1019F			Q9H6R4	NOL6_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)	24	3114	-			1071					Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Missense_Mutation	SNP	ENST00000455041.2	37	c.3055C>T		.	.	.	.	.	.	.	.	.	.	G	25.1	4.602245	0.87055	.	.	ENSG00000165271	ENST00000379470;ENST00000297990;ENST00000541373;ENST00000455041	T;T;T	0.49139	0.79;0.79;0.79	5.81	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.66616	0.2807	M	0.74467	2.265	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.993;0.996	T	0.63475	-0.6629	10	0.32370	T	0.25	.	14.277	0.66187	0.0743:0.0:0.9257:0.0	.	1019;1068;1071	B4DF80;Q9H6R4-4;Q9H6R4	.;.;NOL6_HUMAN	F	125;1071;627;1019	ENSP00000368783:L125F;ENSP00000297990:L1071F;ENSP00000395915:L1019F	ENSP00000297990:L1071F	L	-	1	0	NOL6	33453111	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.579000	0.53900	2.745000	0.94114	0.655000	0.94253	CTT		0.552	NOL6-201	KNOWN	basic	protein_coding	protein_coding		NM_022917		9	20	0	0	0	1	0	9	20				
PCDHGA10	56106	broad.mit.edu	37	5	140794825	140794825	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr5:140794825C>G	ENST00000398610.2	+	1	2083	c.2083C>G	c.(2083-2085)Ctg>Gtg	p.L695V	PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB7_ENST00000398594.2_5'Flank|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	695					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACCTCACTCTGTACCTGGT	0.647																																						ENST00000398610.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2083-2085)Ctg>Gtg									84.0	97.0	93.0					5																	140794825		2203	4300	6503	SO:0001583	missense	0							g.chr5:140794825C>G		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.2083C>G	5.37:g.140794825C>G	ENSP00000381611:p.Leu695Val					PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron	p.L695V	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2083	+								Q9Y5E0	Missense_Mutation	SNP	ENST00000398610.2	37	c.2083C>G	CCDS47292.1	.	.	.	.	.	.	.	.	.	.	c	9.949	1.219648	0.22373	.	.	ENSG00000253846	ENST00000398610	T	0.52983	0.64	5.57	0.611	0.17586	.	.	.	.	.	T	0.53514	0.1801	M	0.76938	2.355	0.09310	N	1	D;P	0.54047	0.964;0.939	P;P	0.51135	0.66;0.578	T	0.46610	-0.9179	9	0.72032	D	0.01	.	4.9543	0.14031	0.1325:0.4868:0.0:0.3807	.	695;695	Q9Y5H3-2;Q9Y5H3	.;PCDGA_HUMAN	V	695	ENSP00000381611:L695V	ENSP00000381611:L695V	L	+	1	2	PCDHGA10	140775009	0.000000	0.05858	0.063000	0.19743	0.089000	0.18198	-0.758000	0.04766	-0.182000	0.10602	-0.169000	0.13324	CTG		0.647	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		4	269	0	0	0	1	0	4	269				
MGAT5	4249	broad.mit.edu	37	2	135076223	135076223	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr2:135076223G>A	ENST00000409645.1	+	5	738	c.486G>A	c.(484-486)tgG>tgA	p.W162*	MGAT5_ENST00000281923.2_Nonsense_Mutation_p.W162*			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	162					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		TGTTTCAGTGGATGAAAGACA	0.488																																						ENST00000409645.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36						c.(484-486)tgG>tgA		mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase							232.0	218.0	223.0					2																	135076223		2203	4300	6503	SO:0001587	stop_gained	4249				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity	g.chr2:135076223G>A	D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.486G>A	2.37:g.135076223G>A	ENSP00000386377:p.Trp162*					MGAT5_ENST00000281923.2_Nonsense_Mutation_p.W162*	p.W162*			Q09328	MGT5A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0964)	5	738	+			162					D3DP70	Nonsense_Mutation	SNP	ENST00000409645.1	37	c.486G>A	CCDS2171.1	.	.	.	.	.	.	.	.	.	.	G	39	7.371036	0.98241	.	.	ENSG00000152127	ENST00000409645;ENST00000281923	.	.	.	5.69	5.69	0.88448	.	0.117452	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.8788	17.9926	0.89172	0.0:0.0:1.0:0.0	.	.	.	.	X	162	.	ENSP00000281923:W162X	W	+	3	0	MGAT5	134792693	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.444000	0.97578	2.685000	0.91497	0.655000	0.94253	TGG		0.488	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254584.3	NM_002410		7	254	0	0	0	1	0	7	254				
C17orf97	400566	broad.mit.edu	37	17	263352	263352	+	Missense_Mutation	SNP	G	G	A	rs199591690		TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr17:263352G>A	ENST00000360127.6	+	2	734	c.718G>A	c.(718-720)Gag>Aag	p.E240K	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	270	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.			E -> D (in Ref. 3; AAH57385). {ECO:0000305}.				p.E240K(2)		breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						CCCCGACCCCGAGGCCCTCAA	0.726																																						ENST00000360127.6																			2	Substitution - Missense(2)	p.E240K(2)	lung(2)	breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						c.(718-720)Gag>Aag		chromosome 17 open reading frame 97							7.0	12.0	10.0					17																	263352		2007	4034	6041	SO:0001583	missense	400566							g.chr17:263352G>A	AK128660, BC057385	CCDS32519.2	17p13.3	2008-08-15			ENSG00000187624	ENSG00000187624			33800	protein-coding gene	gene with protein product						12477932	Standard	NM_001013672		Approved	LOC400566	uc021tna.1	Q6ZQX7	OTTHUMG00000132479	ENST00000360127.6:c.718G>A	17.37:g.263352G>A	ENSP00000353245:p.Glu240Lys					C17orf97_ENST00000571106.1_Intron|AC108004.3_ENST00000466740.2_RNA	p.E240K	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN			2	734	+			270	E -> D (in Ref. 3; AAH57385).		20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.		A5D8T6|Q6NSI2|Q6PFW9	Missense_Mutation	SNP	ENST00000360127.6	37	c.718G>A	CCDS32519.2	.	.	.	.	.	.	.	.	.	.	G	1.898	-0.453843	0.04540	.	.	ENSG00000187624	ENST00000360127	T	0.32753	1.44	0.588	-1.18	0.09617	.	.	.	.	.	T	0.09512	0.0234	N	0.08118	0	0.09310	N	1	B	0.27853	0.191	B	0.15052	0.012	T	0.26916	-1.0089	9	0.08599	T	0.76	.	1.4241	0.02319	0.316:0.0:0.3387:0.3453	.	240	Q6ZQX7-4	.	K	240	ENSP00000353245:E240K	ENSP00000353245:E240K	E	+	1	0	C17orf97	263698	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.038000	0.13862	-0.583000	0.05921	0.195000	0.17529	GAG		0.726	C17orf97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255648.4	NM_001013672		3	29	0	0	0	1	0	3	29				
TFEC	22797	broad.mit.edu	37	7	115614246	115614246	+	Missense_Mutation	SNP	G	G	C			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr7:115614246G>C	ENST00000265440.7	-	3	425	c.245C>G	c.(244-246)tCt>tGt	p.S82C	TFEC_ENST00000393485.1_Intron|TFEC_ENST00000484212.1_Missense_Mutation_p.S172C|TFEC_ENST00000320239.7_Intron	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	82	Necessary for transcriptional transactivation.				cellular response to heat (GO:0034605)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			TAGCAGAGGAGAGTCTGCTCC	0.333																																						ENST00000265440.7																			0				NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25						c.(244-246)tCt>tGt		transcription factor EC							99.0	92.0	94.0					7																	115614246		2203	4299	6502	SO:0001583	missense	22797					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr7:115614246G>C	D43945	CCDS5762.1, CCDS34738.1, CCDS59076.1	7q31.2	2013-05-21			ENSG00000105967	ENSG00000105967		"""Basic helix-loop-helix proteins"""	11754	protein-coding gene	gene with protein product		604732				9256061	Standard	NM_012252		Approved	TCFEC, TFECL, bHLHe34	uc003vhj.2	O14948	OTTHUMG00000023518	ENST00000265440.7:c.245C>G	7.37:g.115614246G>C	ENSP00000265440:p.Ser82Cys					TFEC_ENST00000393485.1_Intron|TFEC_ENST00000484212.1_Missense_Mutation_p.S172C|TFEC_ENST00000320239.7_Intron	p.S82C	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		3	425	-			82			Necessary for transcriptional transactivation.		B2R8X5|Q5H9U8|Q709A4|Q8N6J9	Missense_Mutation	SNP	ENST00000265440.7	37	c.245C>G	CCDS5762.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946256	0.53079	.	.	ENSG00000105967	ENST00000265440;ENST00000484212	T;T	0.18502	2.21;2.49	4.77	2.72	0.32119	.	0.482992	0.19790	U	0.106013	T	0.08582	0.0213	N	0.00841	-1.15	0.80722	D	1	D;P	0.56521	0.976;0.875	P;B	0.52856	0.711;0.338	T	0.40608	-0.9554	10	0.28530	T	0.3	-6.868	10.7109	0.45982	0.0:0.1474:0.7125:0.1402	.	172;82	B7Z757;O14948	.;TFEC_HUMAN	C	82;172	ENSP00000265440:S82C;ENSP00000417432:S172C	ENSP00000265440:S82C	S	-	2	0	TFEC	115401482	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	1.878000	0.39608	0.937000	0.37394	0.650000	0.86243	TCT		0.333	TFEC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000059839.4	NM_012252		8	48	0	0	0	1	0	8	48				
LRIT2	340745	broad.mit.edu	37	10	85982088	85982088	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr10:85982088C>A	ENST00000372113.4	-	3	1246	c.1241G>T	c.(1240-1242)gGa>gTa	p.G414V	LRIT2_ENST00000538192.1_Missense_Mutation_p.G424V	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	414	Fibronectin type-III.					integral component of membrane (GO:0016021)		p.G414L(2)|p.G414V(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						AGTATTGATTCCGGGGCCAAT	0.552																																						ENST00000372113.4																			3	Substitution - Missense(3)	p.G414L(2)|p.G414V(1)	lung(3)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						c.(1240-1242)gGa>gTa		leucine-rich repeat, immunoglobulin-like and transmembrane domains 2							115.0	108.0	110.0					10																	85982088		2203	4300	6503	SO:0001583	missense	340745					integral to membrane		g.chr10:85982088C>A		CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"""Immunoglobulin superfamily / I-set domain containing"""	23443	protein-coding gene	gene with protein product			"""leucine rich repeat containing 22"""	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.1241G>T	10.37:g.85982088C>A	ENSP00000361185:p.Gly414Val					LRIT2_ENST00000538192.1_Missense_Mutation_p.G424V	p.G414V	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN			3	1246	-			414			Fibronectin type-III.		B7ZME6	Missense_Mutation	SNP	ENST00000372113.4	37	c.1241G>T	CCDS31234.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.710737	0.48517	.	.	ENSG00000204033	ENST00000372113;ENST00000538192	T;T	0.21031	2.03;2.03	4.88	4.88	0.63580	Fibronectin, type III (1);	0.000000	0.85682	D	0.000000	T	0.48295	0.1492	M	0.76328	2.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.993;0.999	T	0.51888	-0.8648	10	0.72032	D	0.01	.	17.1624	0.86807	0.0:1.0:0.0:0.0	.	424;414	B7ZME6;A6NDA9	.;LRIT2_HUMAN	V	414;424	ENSP00000361185:G414V;ENSP00000438264:G424V	ENSP00000361185:G414V	G	-	2	0	LRIT2	85972068	1.000000	0.71417	0.026000	0.17262	0.013000	0.08279	7.064000	0.76721	2.415000	0.81967	0.557000	0.71058	GGA		0.552	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049110.4	XM_291697		4	93	1	0	0.00909568	1	0.00909568	4	93				
KIF19	124602	broad.mit.edu	37	17	72346559	72346559	+	Silent	SNP	C	C	T	rs376983567		TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr17:72346559C>T	ENST00000389916.4	+	11	1371	c.1233C>T	c.(1231-1233)agC>agT	p.S411S		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	411					ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						AGCTGCACAGCGGGCAGGGTG	0.672													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16409	0.0		0.0	False		,,,				2504	0.0					ENST00000389916.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(1231-1233)agC>agT		kinesin family member 19		C		1,4385		0,1,2192	11.0	13.0	12.0		1233	-3.7	0.7	17		12	0,8582		0,0,4291	no	coding-synonymous	KIF19	NM_153209.3		0,1,6483	TT,TC,CC		0.0,0.0228,0.0077		411/999	72346559	1,12967	2193	4291	6484	SO:0001819	synonymous_variant	124602				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr17:72346559C>T	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"""Kinesins"""	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.1233C>T	17.37:g.72346559C>T							p.S411S	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN			11	1371	+			411					A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Silent	SNP	ENST00000389916.4	37	c.1233C>T	CCDS32718.2																																																																																				0.672	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		11	9	0	0	0	1	0	11	9				
CROCC	9696	broad.mit.edu	37	1	17250900	17250900	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr1:17250900G>A	ENST00000375541.5	+	3	346	c.277G>A	c.(277-279)Gtg>Atg	p.V93M	CROCC_ENST00000467938.1_Intron	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GCTGTCCCGCGTGGAGGACCT	0.657																																						ENST00000375541.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62						c.(277-279)Gtg>Atg		ciliary rootlet coiled-coil, rootletin																																				SO:0001583	missense	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17250900G>A	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.277G>A	1.37:g.17250900G>A	ENSP00000364691:p.Val93Met					CROCC_ENST00000467938.1_Intron	p.V93M	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	3	346	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	93						Missense_Mutation	SNP	ENST00000375541.5	37	c.277G>A	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.377434	0.42105	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.13089	2.62	4.88	1.8	0.24995	.	.	.	.	.	T	0.12689	0.0308	L	0.47716	1.5	0.28335	N	0.921594	P	0.52170	0.951	B	0.42916	0.402	T	0.13176	-1.0519	9	0.40728	T	0.16	.	7.4177	0.27055	0.0897:0.3265:0.5838:0.0	.	93	Q5TZA2	CROCC_HUMAN	M	93;64	ENSP00000364691:V93M	ENSP00000364691:V93M	V	+	1	0	CROCC	17123487	0.747000	0.28283	0.772000	0.31596	0.986000	0.74619	1.017000	0.29989	0.529000	0.28599	0.591000	0.81541	GTG		0.657	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		18	24	0	0	0	1	0	18	24				
ZNF812	729648	broad.mit.edu	37	19	9801052	9801052	+	Missense_Mutation	SNP	C	C	T	rs115285977	byFrequency	TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr19:9801052C>T	ENST00000457674.2	-	5	1645	c.1127G>A	c.(1126-1128)cGt>cAt	p.R376H	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	376					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(1)	1						ATGTTTACTACGATAGGAAGA	0.388													.|||	165	0.0329473	0.1172	0.013	5008	,	,		22941	0.0		0.001	False		,,,				2504	0.0					ENST00000457674.2																			0				ovary(1)	1						c.(1126-1128)cGt>cAt		zinc finger protein 812																																				SO:0001583	missense	729648				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9801052C>T		CCDS54215.1	19p13.2	2014-04-02			ENSG00000224689	ENSG00000224689		"""Zinc fingers, C2H2-type"", ""-"""	33242	protein-coding gene	gene with protein product							Standard	NM_001199814		Approved		uc021uop.1	P0C7V5	OTTHUMG00000167867	ENST00000457674.2:c.1127G>A	19.37:g.9801052C>T	ENSP00000395629:p.Arg376His					ZNF812_ENST00000536819.1_5'UTR	p.R376H	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN			5	1645	-			376						Missense_Mutation	SNP	ENST00000457674.2	37	c.1127G>A	CCDS54215.1	54	0.024725274725274724	53	0.10772357723577236	1	0.0027624309392265192	0	0.0	0	0.0	t	7.366	0.625772	0.14257	.	.	ENSG00000224689	ENST00000457674	T	0.07444	3.19	1.42	-1.11	0.09840	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00178	0.0005	L	0.58510	1.815	0.09310	N	1	B	0.18863	0.031	B	0.12156	0.007	T	0.32640	-0.9899	9	0.72032	D	0.01	.	3.9008	0.09161	0.4077:0.389:0.0:0.2032	.	376	P0C7V5	ZN812_HUMAN	H	376	ENSP00000395629:R376H	ENSP00000395629:R376H	R	-	2	0	ZNF812	9662052	0.018000	0.18449	0.000000	0.03702	0.025000	0.11179	-0.265000	0.08644	-1.922000	0.01067	-3.256000	0.00050	CGT		0.388	ZNF812-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396726.1			27	42	0	0	0	1	0	27	42				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	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			37	27	0	0	0	1	0	37	27				
BOD1L1	259282	broad.mit.edu	37	4	13600893	13600893	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr4:13600893C>T	ENST00000040738.5	-	10	7766	c.7631G>A	c.(7630-7632)gGg>gAg	p.G2544E		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2544						nucleus (GO:0005634)	DNA binding (GO:0003677)										AGCCACGGTCCCTTGAACAGG	0.493											OREG0016115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000040738.5																			0											c.(7630-7632)gGg>gAg		biorientation of chromosomes in cell division 1-like 1							79.0	68.0	72.0					4																	13600893		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13600893C>T	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.7631G>A	4.37:g.13600893C>T	ENSP00000040738:p.Gly2544Glu		OREG0016115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	688		p.G2544E	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	7766	-			2544					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.7631G>A	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	C	3.691	-0.063493	0.07273	.	.	ENSG00000038219	ENST00000040738	T	0.05199	3.48	4.44	0.125	0.14718	.	0.919254	0.09192	N	0.835885	T	0.02047	0.0064	N	0.03608	-0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.45948	-0.9226	10	0.02654	T	1	.	3.3333	0.07092	0.1703:0.2082:0.0:0.6215	.	2544	Q8NFC6	BOD1L_HUMAN	E	2544	ENSP00000040738:G2544E	ENSP00000040738:G2544E	G	-	2	0	BOD1L	13209991	0.001000	0.12720	0.001000	0.08648	0.005000	0.04900	0.125000	0.15749	0.189000	0.20188	-0.378000	0.06908	GGG		0.493	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		11	9	0	0	0	1	0	11	9				
CMAS	55907	broad.mit.edu	37	12	22199458	22199458	+	Missense_Mutation	SNP	G	G	C			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr12:22199458G>C	ENST00000229329.2	+	1	351	c.221G>C	c.(220-222)tGg>tCg	p.W74S		NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN	cytidine monophosphate N-acetylneuraminic acid synthetase	74					lipopolysaccharide biosynthetic process (GO:0009103)|N-acetylneuraminate metabolic process (GO:0006054)	membrane (GO:0016020)|nucleus (GO:0005634)	N-acylneuraminate cytidylyltransferase activity (GO:0008781)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						CTCATTGGCTGGGTCCTGCGT	0.692																																						ENST00000229329.2																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(220-222)tGg>tCg		cytidine monophosphate N-acetylneuraminic acid synthetase							9.0	12.0	11.0					12																	22199458		2193	4291	6484	SO:0001583	missense	55907				lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity	g.chr12:22199458G>C	AF271388	CCDS8696.1	12p12.1	2008-08-04			ENSG00000111726	ENSG00000111726			18290	protein-coding gene	gene with protein product	"""CMP-Neu5Ac synthetase"""	603316				8889549, 7566098	Standard	NM_018686		Approved		uc001rfm.4	Q8NFW8	OTTHUMG00000169097	ENST00000229329.2:c.221G>C	12.37:g.22199458G>C	ENSP00000229329:p.Trp74Ser						p.W74S	NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN			1	351	+			74					Q96AX5|Q9NQZ0	Missense_Mutation	SNP	ENST00000229329.2	37	c.221G>C	CCDS8696.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.683626	0.88639	.	.	ENSG00000111726	ENST00000229329	.	.	.	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	D	0.85504	0.5712	M	0.93062	3.375	0.80722	D	1	D	0.56287	0.975	D	0.73708	0.981	D	0.89168	0.3535	9	0.87932	D	0	-8.9049	15.9773	0.80079	0.0:0.0:1.0:0.0	.	74	Q8NFW8	NEUA_HUMAN	S	74	.	ENSP00000229329:W74S	W	+	2	0	CMAS	22090725	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.389000	0.90172	2.426000	0.82243	0.655000	0.94253	TGG		0.692	CMAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402235.1	NM_018686		9	11	0	0	0	1	0	9	11				
NTRK1	4914	broad.mit.edu	37	1	156846352	156846352	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr1:156846352A>G	ENST00000524377.1	+	14	1834	c.1793A>G	c.(1792-1794)aAc>aGc	p.N598S	NTRK1_ENST00000368196.3_Missense_Mutation_p.N592S|NTRK1_ENST00000392302.2_Missense_Mutation_p.N562S|NTRK1_ENST00000358660.3_Missense_Mutation_p.N595S	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	598	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	GGGGACCTCAACCGCTTCCTC	0.642			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																												ENST00000368196.3				Dom	yes		1	1q21-q22	4914	T	"""neurotrophic tyrosine kinase, receptor, type 1"""			E	"""TPM3, TPR, TFG"""		papillary thyroid		0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74						c.(1774-1776)aAc>aGc		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)						22.0	21.0	21.0					1																	156846352		2203	4297	6500	SO:0001583	missense	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156846352A>G	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.1793A>G	1.37:g.156846352A>G	ENSP00000431418:p.Asn598Ser	TSP Lung(10;0.080)				NTRK1_ENST00000524377.1_Missense_Mutation_p.N598S|NTRK1_ENST00000392302.2_Missense_Mutation_p.N562S|NTRK1_ENST00000358660.3_Missense_Mutation_p.N595S	p.N592S	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN			13	1895	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		598			Protein kinase.		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	ENST00000524377.1	37	c.1775A>G	CCDS1161.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.795929	0.90453	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41	5.27	5.27	0.74061	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.088859	0.48767	D	0.000176	D	0.85775	0.5775	N	0.11284	0.12	0.80722	D	1	D;D;D;D	0.89917	0.987;0.958;0.995;1.0	D;P;P;D	0.91635	0.951;0.462;0.708;0.999	D	0.90095	0.4180	10	0.72032	D	0.01	.	14.1543	0.65407	1.0:0.0:0.0:0.0	.	595;592;598;562	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	S	562;592;598;595	ENSP00000376120:N562S;ENSP00000357179:N592S;ENSP00000431418:N598S;ENSP00000351486:N595S	ENSP00000351486:N595S	N	+	2	0	NTRK1	155112976	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.106000	0.94253	2.216000	0.71823	0.459000	0.35465	AAC		0.642	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		7	16	0	0	0	1	0	7	16				
GRM2	2912	broad.mit.edu	37	3	51751835	51751835	+	Splice_Site	SNP	T	T	A			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr3:51751835T>A	ENST00000395052.3	+	5	2779		c.e5+2		GRM2_ENST00000475478.1_Splice_Site|GRM2_ENST00000442933.2_Splice_Site	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2						adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TTGGCCAAGGTCAGTGTCCTA	0.622																																						ENST00000395052.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.e5+2		glutamate receptor, metabotropic 2	Acamprosate(DB00659)|Nicotine(DB00184)						45.0	43.0	44.0					3																	51751835		2203	4300	6503	SO:0001630	splice_region_variant	2912				synaptic transmission	integral to plasma membrane		g.chr3:51751835T>A	L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.2545+2T>A	3.37:g.51751835T>A						GRM2_ENST00000442933.2_Splice_Site|GRM2_ENST00000475478.1_Splice_Site		NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	5	2779	+								B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Splice_Site	SNP	ENST00000395052.3	37		CCDS2834.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.117081	0.77323	.	.	ENSG00000164082	ENST00000395052;ENST00000442933	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9121	0.58184	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	GRM2	51726875	1.000000	0.71417	0.996000	0.52242	0.807000	0.45602	3.446000	0.52928	2.196000	0.70406	0.496000	0.49642	.		0.622	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1		Intron	20	22	0	0	0	1	0	20	22				
CTC-260E6.6	0	broad.mit.edu	37	19	20370287	20370287	+	RNA	SNP	T	T	C			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr19:20370287T>C	ENST00000593655.1	-	0	199																											ATTGCCAATCTTTGAACTCAT	0.408																																						ENST00000593655.1																			0																																																			0							g.chr19:20370287T>C																													19.37:g.20370287T>C														0	199	-									RNA	SNP	ENST00000593655.1	37																																																																																						0.408	CTC-260E6.6-006	KNOWN	basic	antisense	antisense	OTTHUMT00000462901.1			5	12	0	0	0	1	0	5	12				
LYPD6B	130576	broad.mit.edu	37	2	150064872	150064872	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr2:150064872G>A	ENST00000409029.1	+	5	404	c.202G>A	c.(202-204)Gca>Aca	p.A68T	LYPD6B_ENST00000409876.1_Missense_Mutation_p.A68T|LYPD6B_ENST00000280115.7_Missense_Mutation_p.A92T|LYPD6B_ENST00000498249.1_3'UTR|LYPD6B_ENST00000409642.3_Missense_Mutation_p.A92T			Q8NI32	LPD6B_HUMAN	LY6/PLAUR domain containing 6B	68	UPAR/Ly6.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						TTGTGAAAACGCAGGGGATAA	0.373																																						ENST00000409642.3																			0				endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(274-276)Gca>Aca		LY6/PLAUR domain containing 6B							163.0	147.0	152.0					2																	150064872		1852	4098	5950	SO:0001583	missense	130576					anchored to membrane|plasma membrane		g.chr2:150064872G>A		CCDS46423.1	2q23.2	2012-07-20			ENSG00000150556	ENSG00000150556			27018	protein-coding gene	gene with protein product	"""cancer/testis antigen 116"""					18360792	Standard	NM_177964		Approved	CT116, LYPD7	uc002twv.1	Q8NI32	OTTHUMG00000153743	ENST00000409029.1:c.202G>A	2.37:g.150064872G>A	ENSP00000386650:p.Ala68Thr					LYPD6B_ENST00000498249.1_3'UTR|LYPD6B_ENST00000280115.7_Missense_Mutation_p.A92T|LYPD6B_ENST00000409876.1_Missense_Mutation_p.A68T|LYPD6B_ENST00000409029.1_Missense_Mutation_p.A68T	p.A92T	NM_177964.3	NP_808879.2	Q8NI32	LPD6B_HUMAN			5	675	+			68			UPAR/Ly6.		D3DP90|Q53TK0|Q7Z747|Q8IXK7	Missense_Mutation	SNP	ENST00000409029.1	37	c.274G>A		.	.	.	.	.	.	.	.	.	.	G	28.8	4.955177	0.92726	.	.	ENSG00000150556	ENST00000409642;ENST00000409876;ENST00000409029;ENST00000280115	T;T;T;T	0.19532	2.14;2.14;2.14;2.14	5.92	5.92	0.95590	Ly-6 antigen / uPA receptor -like (1);	0.000000	0.85682	D	0.000000	T	0.46983	0.1421	M	0.76328	2.33	0.51482	D	0.999925	D;D	0.76494	0.999;0.999	D;D	0.65773	0.918;0.938	T	0.26430	-1.0103	9	.	.	.	-13.8579	17.809	0.88610	0.0:0.0:1.0:0.0	.	68;92	Q8NI32;Q8NI32-2	LPD6B_HUMAN;.	T	92;68;68;92	ENSP00000387077:A92T;ENSP00000386479:A68T;ENSP00000386650:A68T;ENSP00000280115:A92T	.	A	+	1	0	LYPD6B	149773118	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	7.629000	0.83207	2.809000	0.96659	0.467000	0.42956	GCA		0.373	LYPD6B-003	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000332299.2	NM_177964		74	25	0	0	0	1	0	74	25				
COL24A1	255631	broad.mit.edu	37	1	86591586	86591586	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr1:86591586G>A	ENST00000370571.2	-	3	799	c.433C>T	c.(433-435)Cac>Tac	p.H145Y	COL24A1_ENST00000436319.1_Missense_Mutation_p.H145Y	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	145	Laminin G-like.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CCTCTAATGTGTACTACTAAT	0.358																																						ENST00000370571.2																			0				NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.(433-435)Cac>Tac		collagen, type XXIV, alpha 1							52.0	49.0	50.0					1																	86591586		1842	4094	5936	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86591586G>A	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.433C>T	1.37:g.86591586G>A	ENSP00000359603:p.His145Tyr					COL24A1_ENST00000436319.1_Missense_Mutation_p.H145Y	p.H145Y	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	3	799	-			145			Laminin G-like.|TSP N-terminal.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.433C>T	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	G	2.048	-0.418303	0.04766	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.16324	2.35;2.35	5.82	-6.12	0.02124	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.667620	0.12401	N	0.472157	T	0.01558	0.0050	N	0.05124	-0.11	0.20196	N	0.999928	B;B	0.06786	0.001;0.001	B;B	0.06405	0.001;0.002	T	0.45498	-0.9257	10	0.02654	T	1	.	15.0948	0.72226	0.6253:0.0:0.3747:0.0	.	145;145	F8WDM8;Q17RW2	.;COOA1_HUMAN	Y	145	ENSP00000359603:H145Y;ENSP00000392531:H145Y	ENSP00000359603:H145Y	H	-	1	0	COL24A1	86364174	0.003000	0.15002	0.002000	0.10522	0.472000	0.32918	0.180000	0.16860	-1.017000	0.03367	-0.793000	0.03317	CAC		0.358	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		5	11	0	0	0	1	0	5	11				
GUCY2C	2984	broad.mit.edu	37	12	14849266	14849266	+	Silent	SNP	G	G	C			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr12:14849266G>C	ENST00000261170.3	-	1	253	c.117C>G	c.(115-117)gtC>gtG	p.V39V	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	39					intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	CCATCATCAGGACGCTGATTT	0.527																																						ENST00000261170.3																			0				breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						c.(115-117)gtC>gtG		guanylate cyclase 2C (heat stable enterotoxin receptor)							88.0	83.0	85.0					12																	14849266		2203	4300	6503	SO:0001819	synonymous_variant	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14849266G>C		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.117C>G	12.37:g.14849266G>C						RP11-174G6.1_ENST00000501178.2_RNA	p.V39V	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN			1	253	-			39					B2RMY6	Silent	SNP	ENST00000261170.3	37	c.117C>G	CCDS8664.1																																																																																				0.527	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			13	37	0	0	0	1	0	13	37				
DNAH5	1767	broad.mit.edu	37	5	13735963	13735963	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr5:13735963C>T	ENST00000265104.4	-	67	11638	c.11534G>A	c.(11533-11535)cGc>cAc	p.R3845H		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3845					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAGAAACTGGCGAAGCGAAGT	0.468									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(11533-11535)cGc>cAc		dynein, axonemal, heavy chain 5							132.0	123.0	126.0					5																	13735963		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13735963C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.11534G>A	5.37:g.13735963C>T	ENSP00000265104:p.Arg3845His						p.R3845H	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			67	11638	-	Lung NSC(4;0.00476)		3845					Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.11534G>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347398	0.82022	.	.	ENSG00000039139	ENST00000265104	T	0.53857	0.6	5.76	5.76	0.90799	.	0.056181	0.64402	D	0.000001	T	0.61110	0.2321	L	0.58302	1.8	0.80722	D	1	D	0.56968	0.978	P	0.49361	0.608	T	0.60831	-0.7185	10	0.46703	T	0.11	.	19.9658	0.97266	0.0:1.0:0.0:0.0	.	3845	Q8TE73	DYH5_HUMAN	H	3845	ENSP00000265104:R3845H	ENSP00000265104:R3845H	R	-	2	0	DNAH5	13788963	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	4.896000	0.63222	2.721000	0.93114	0.591000	0.81541	CGC		0.468	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		66	105	0	0	0	1	0	66	105				
TUBA3D	113457	broad.mit.edu	37	2	132238154	132238154	+	Silent	SNP	C	C	T	rs532066293		TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr2:132238154C>T	ENST00000321253.6	+	4	995	c.888C>T	c.(886-888)ttC>ttT	p.F296F		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	296					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		ATGCCTGCTTCGAGCCAGCCA	0.597																																					Ovarian(137;2059 2432 35543 39401)	ENST00000321253.6																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32						c.(886-888)ttC>ttT		tubulin, alpha 3d							93.0	127.0	115.0					2																	132238154		2202	4300	6502	SO:0001819	synonymous_variant	113457				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:132238154C>T	K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"""Tubulins"""	24071	protein-coding gene	gene with protein product	"""alpha-tubulin isotype H2-alpha"""					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.888C>T	2.37:g.132238154C>T							p.F296F	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	4	995	+			296					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	ENST00000321253.6	37	c.888C>T	CCDS33290.1																																																																																				0.597	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331800.2	NM_080386		61	220	0	0	0	1	0	61	220				
HAUS1	115106	broad.mit.edu	37	18	43685266	43685266	+	Missense_Mutation	SNP	T	T	G			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr18:43685266T>G	ENST00000282058.6	+	2	217	c.137T>G	c.(136-138)gTc>gGc	p.V46G	HAUS1_ENST00000585518.1_Missense_Mutation_p.V46G|ATP5A1_ENST00000282050.2_5'Flank	NM_138443.3	NP_612452.1	Q96CS2	HAUS1_HUMAN	HAUS augmin-like complex, subunit 1	46					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						CGCAACAGGGTCCGGGACAGG	0.438																																					NSCLC(79;183 1423 5813 15597 38427)	ENST00000282058.6																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						c.(136-138)gTc>gGc		HAUS augmin-like complex, subunit 1							70.0	65.0	66.0					18																	43685266		2203	4300	6503	SO:0001583	missense	115106				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole		g.chr18:43685266T>G	AY360137	CCDS11928.1	18q21.1	2013-10-11	2009-04-20	2009-04-20	ENSG00000152240	ENSG00000152240		"""HAUS augmin-like complex subunits"""	25174	protein-coding gene	gene with protein product		608775	"""coiled-coil domain containing 5 (spindle associated)"""	CCDC5		19427217	Standard	NR_026978		Approved	HEI-C, HsT1461, FLJ40084	uc002lbu.3	Q96CS2	OTTHUMG00000132638	ENST00000282058.6:c.137T>G	18.37:g.43685266T>G	ENSP00000282058:p.Val46Gly					HAUS1_ENST00000585518.1_Missense_Mutation_p.V46G	p.V46G	NM_138443.3	NP_612452.1	Q96CS2	HAUS1_HUMAN			2	217	+			46					B2RDM7|Q8N837	Missense_Mutation	SNP	ENST00000282058.6	37	c.137T>G	CCDS11928.1	.	.	.	.	.	.	.	.	.	.	T	13.73	2.323063	0.41096	.	.	ENSG00000152240	ENST00000282058	.	.	.	5.4	0.589	0.17452	.	0.499317	0.21905	N	0.067390	T	0.46619	0.1402	M	0.62723	1.935	0.80722	D	1	B	0.19200	0.034	B	0.18561	0.022	T	0.19745	-1.0296	9	0.23302	T	0.38	-0.3112	5.853	0.18704	0.1408:0.5302:0.0:0.329	.	46	Q96CS2	HAUS1_HUMAN	G	46	.	ENSP00000282058:V46G	V	+	2	0	HAUS1	41939264	0.002000	0.14202	0.997000	0.53966	0.818000	0.46254	0.197000	0.17197	0.055000	0.16094	-0.256000	0.11100	GTC		0.438	HAUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255885.1	NM_138443		24	2	0	0	0	1	0	24	2				
LAMB2	3913	broad.mit.edu	37	3	49161202	49161202	+	Silent	SNP	G	G	A			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr3:49161202G>A	ENST00000418109.1	-	25	3920	c.3756C>T	c.(3754-3756)gcC>gcT	p.A1252A	USP19_ENST00000417901.1_5'Flank|LAMB2_ENST00000464891.1_5'Flank|USP19_ENST00000453664.1_5'Flank|USP19_ENST00000398892.3_5'Flank|USP19_ENST00000398888.2_5'Flank|LAMB2_ENST00000305544.4_Silent_p.A1252A|USP19_ENST00000434032.2_5'Flank|USP19_ENST00000488993.1_5'Flank	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1252	Domain II.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAGTGGAGGCGGCTGAGGTGT	0.622																																						ENST00000418109.1																			0				NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(3754-3756)gcC>gcT		laminin, beta 2 (laminin S)							34.0	37.0	36.0					3																	49161202		2203	4296	6499	SO:0001819	synonymous_variant	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49161202G>A		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.3756C>T	3.37:g.49161202G>A						LAMB2_ENST00000305544.4_Silent_p.A1252A	p.A1252A	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	25	3920	-			1252			Domain II.		Q16321	Silent	SNP	ENST00000418109.1	37	c.3756C>T	CCDS2789.1																																																																																				0.622	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		53	25	0	0	0	1	0	53	25				
ZDHHC14	79683	broad.mit.edu	37	6	158068387	158068387	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr6:158068387C>A	ENST00000359775.5	+	7	1841	c.952C>A	c.(952-954)Ccc>Acc	p.P318T	ZDHHC14_ENST00000341375.8_3'UTR|ZDHHC14_ENST00000414563.2_Missense_Mutation_p.P318T			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	318					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		CCTGTGTGGGCCCATCTCACC	0.498																																						ENST00000359775.5																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17						c.(952-954)Ccc>Acc		zinc finger, DHHC-type containing 14							130.0	127.0	128.0					6																	158068387		2203	4299	6502	SO:0001583	missense	79683					integral to membrane	acyltransferase activity|zinc ion binding	g.chr6:158068387C>A	AF542388	CCDS5252.1, CCDS47510.1	6q25.3	2008-05-02			ENSG00000175048	ENSG00000175048		"""Zinc fingers, DHHC-type"""	20341	protein-coding gene	gene with protein product							Standard	NM_024630		Approved	FLJ20984, NEW1CP	uc003qqt.3	Q8IZN3	OTTHUMG00000015896	ENST00000359775.5:c.952C>A	6.37:g.158068387C>A	ENSP00000352821:p.Pro318Thr					ZDHHC14_ENST00000414563.2_Missense_Mutation_p.P318T|ZDHHC14_ENST00000341375.8_3'UTR	p.P318T			Q8IZN3	ZDH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)	7	1841	+		Breast(66;0.00586)|Ovarian(120;0.123)	318					A6NDB7|Q5JS07|Q5JS08|Q6PHS4|Q8IZN2|Q9H7F1	Missense_Mutation	SNP	ENST00000359775.5	37	c.952C>A	CCDS5252.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.450181	0.63290	.	.	ENSG00000175048	ENST00000359775;ENST00000414563;ENST00000538483	T;T	0.52057	0.68;0.7	5.59	5.59	0.84812	.	0.000000	0.64402	U	0.000008	T	0.66346	0.2780	M	0.79011	2.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.994	T	0.70019	-0.4987	10	0.87932	D	0	-19.6026	18.3681	0.90398	0.0:1.0:0.0:0.0	.	318;318	Q8IZN3;Q8IZN3-2	ZDH14_HUMAN;.	T	318;318;322	ENSP00000352821:P318T;ENSP00000410713:P318T	ENSP00000352821:P318T	P	+	1	0	ZDHHC14	157988375	1.000000	0.71417	1.000000	0.80357	0.151000	0.21798	7.072000	0.76777	2.622000	0.88805	0.561000	0.74099	CCC		0.498	ZDHHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042841.2	NM_153746		24	80	1	0	2.21704e-12	1	2.34445e-12	24	80				
ABCA7	10347	broad.mit.edu	37	19	1056090	1056090	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr19:1056090C>T	ENST00000263094.6	+	32	4495	c.4264C>T	c.(4264-4266)Cga>Tga	p.R1422*	ABCA7_ENST00000433129.1_Nonsense_Mutation_p.R1422*|ABCA7_ENST00000435683.2_Nonsense_Mutation_p.R1284*	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1422					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGGGGGGCCGAGACCCAGG	0.726																																						ENST00000263094.6																			0				NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(4264-4266)Cga>Tga		ATP-binding cassette, sub-family A (ABC1), member 7							26.0	32.0	30.0					19																	1056090		2203	4298	6501	SO:0001587	stop_gained	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1056090C>T	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.4264C>T	19.37:g.1056090C>T	ENSP00000263094:p.Arg1422*					ABCA7_ENST00000433129.1_Nonsense_Mutation_p.R1422*|ABCA7_ENST00000435683.2_Nonsense_Mutation_p.R1284*	p.R1422*	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	32	4495	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	1422					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Nonsense_Mutation	SNP	ENST00000263094.6	37	c.4264C>T	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	C	37	6.177492	0.97352	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	.	.	.	2.75	0.541	0.17168	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	1.6336	0.02737	0.2142:0.4486:0.2094:0.1278	.	.	.	.	X	1422	.	ENSP00000263094:R1422X	R	+	1	2	ABCA7	1007090	0.000000	0.05858	0.294000	0.24946	0.042000	0.13812	-0.164000	0.09983	0.231000	0.21079	-1.157000	0.01802	CGA		0.726	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		30	38	0	0	0	1	0	30	38				
ACHE	43	broad.mit.edu	37	7	100491367	100491367	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr7:100491367C>T	ENST00000412389.1	-	1	642	c.487G>A	c.(487-489)Gtg>Atg	p.V163M	ACHE_ENST00000497647.1_5'Flank|ACHE_ENST00000419336.2_Missense_Mutation_p.V163M|ACHE_ENST00000411582.1_Missense_Mutation_p.V163M|ACHE_ENST00000241069.5_Missense_Mutation_p.V163M|ACHE_ENST00000428317.1_Missense_Mutation_p.V163M|ACHE_ENST00000302913.4_Missense_Mutation_p.V163M			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	163					acetylcholine catabolic process (GO:0006581)|acetylcholine catabolic process in synaptic cleft (GO:0001507)|amyloid precursor protein metabolic process (GO:0042982)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|choline metabolic process (GO:0019695)|DNA replication (GO:0006260)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|negative regulation of synaptic transmission, cholinergic (GO:0032223)|nervous system development (GO:0007399)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter receptor biosynthetic process (GO:0045212)|osteoblast development (GO:0002076)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of protein secretion (GO:0050714)|protein tetramerization (GO:0051262)|receptor internalization (GO:0031623)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of receptor recycling (GO:0001919)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|cholinesterase activity (GO:0004104)|collagen binding (GO:0005518)|hydrolase activity (GO:0016787)|laminin binding (GO:0043236)|protein homodimerization activity (GO:0042803)|serine hydrolase activity (GO:0017171)			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium(DB00944)|Dipivefrin(DB00449)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Minaprine(DB00805)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pralidoxime(DB00733)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tubocurarine(DB01199)	CCATCGTACACGTCCAAGGAG	0.637																																						ENST00000302913.4																			0				large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16						c.(487-489)Gtg>Atg		acetylcholinesterase	Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)						69.0	73.0	72.0					7																	100491367		2203	4300	6503	SO:0001583	missense	43				acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity	g.chr7:100491367C>T		CCDS5709.1, CCDS5710.1, CCDS64736.1	7q22	2014-07-19	2014-01-02		ENSG00000087085	ENSG00000087085	3.1.1.7	"""Blood group antigens"""	108	protein-coding gene	gene with protein product	"""Yt blood group"""	100740	"""acetylcholinesterase (YT blood group)"", ""acetylcholinesterase (Yt blood group)"", ""acetylcholinesterase"""	YT		1380483	Standard	XM_005250357		Approved		uc003uxe.3	P22303	OTTHUMG00000157033	ENST00000412389.1:c.487G>A	7.37:g.100491367C>T	ENSP00000394976:p.Val163Met					ACHE_ENST00000411582.1_Missense_Mutation_p.V163M|ACHE_ENST00000428317.1_Missense_Mutation_p.V163M|ACHE_ENST00000419336.2_Missense_Mutation_p.V163M|ACHE_ENST00000241069.5_Missense_Mutation_p.V163M|ACHE_ENST00000412389.1_Missense_Mutation_p.V163M	p.V163M	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN			2	625	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		163					A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Missense_Mutation	SNP	ENST00000412389.1	37	c.487G>A	CCDS5709.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.753299	0.49362	.	.	ENSG00000087085	ENST00000419336;ENST00000241069;ENST00000428317;ENST00000302913;ENST00000412389;ENST00000426415;ENST00000430554;ENST00000411582;ENST00000422451	T;T;T;T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3	5.23	5.23	0.72850	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	T	0.77438	0.4130	L	0.48642	1.525	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.79584	-0.1743	10	0.87932	D	0	.	16.2544	0.82505	0.0:1.0:0.0:0.0	.	163;163;163;163	B7WPI6;P22303-3;P22303-2;P22303	.;.;.;ACES_HUMAN	M	163	ENSP00000403474:V163M;ENSP00000241069:V163M;ENSP00000414858:V163M;ENSP00000303211:V163M;ENSP00000394976:V163M;ENSP00000397143:V163M;ENSP00000399725:V163M;ENSP00000404865:V163M	ENSP00000241069:V163M	V	-	1	0	ACHE	100329303	0.988000	0.35896	0.859000	0.33776	0.134000	0.20937	2.849000	0.48286	2.424000	0.82194	0.561000	0.74099	GTG		0.637	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347201.1	NM_015831		33	115	0	0	0	1	0	33	115				
DNAH3	55567	broad.mit.edu	37	16	21109960	21109960	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr16:21109960T>C	ENST00000261383.3	-	17	2496	c.2497A>G	c.(2497-2499)Aat>Gat	p.N833D	DNAH3_ENST00000415178.1_Missense_Mutation_p.N833D	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	833	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AACGCCCGATTTAGGTTCTTT	0.413																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(2497-2499)Aat>Gat		dynein, axonemal, heavy chain 3							153.0	140.0	144.0					16																	21109960		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21109960T>C	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.2497A>G	16.37:g.21109960T>C	ENSP00000261383:p.Asn833Asp					DNAH3_ENST00000415178.1_Missense_Mutation_p.N833D	p.N833D	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	17	2496	-			833			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.2497A>G	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	T	1.078	-0.667769	0.03428	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.21191	2.02;2.19	5.71	2.5	0.30297	.	1.120070	0.06612	N	0.755763	T	0.09335	0.0230	N	0.04880	-0.145	0.19300	N	0.999979	B	0.02656	0.0	B	0.01281	0.0	T	0.27839	-1.0062	10	0.02654	T	1	.	8.2617	0.31788	0.0:0.6775:0.0:0.3225	.	833	Q8TD57	DYH3_HUMAN	D	833	ENSP00000261383:N833D;ENSP00000394245:N833D	ENSP00000261383:N833D	N	-	1	0	DNAH3	21017461	0.980000	0.34600	0.223000	0.23860	0.660000	0.38997	1.724000	0.38064	0.297000	0.22615	-0.177000	0.13119	AAT		0.413	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		4	119	0	0	0	1	0	4	119				
ZIC4	84107	broad.mit.edu	37	3	147108875	147108875	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr3:147108875T>C	ENST00000383075.3	-	4	1359	c.847A>G	c.(847-849)Aag>Gag	p.K283E	ZIC4_ENST00000473123.1_Missense_Mutation_p.K283E|ZIC4_ENST00000525172.2_Missense_Mutation_p.K333E|ZIC4_ENST00000484399.1_Missense_Mutation_p.K283E|ZIC4_ENST00000491672.1_Missense_Mutation_p.K77E|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000425731.3_Missense_Mutation_p.K321E	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	283						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						TTCATGTGCTTACGCAGCGAG	0.642																																						ENST00000383075.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						c.(847-849)Aag>Gag		Zic family member 4							37.0	45.0	42.0					3																	147108875		2200	4300	6500	SO:0001583	missense	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147108875T>C	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.847A>G	3.37:g.147108875T>C	ENSP00000372553:p.Lys283Glu					ZIC4_ENST00000484399.1_Missense_Mutation_p.K283E|ZIC4_ENST00000425731.3_Missense_Mutation_p.K321E|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000473123.1_Missense_Mutation_p.K283E|ZIC4_ENST00000525172.2_Missense_Mutation_p.K333E|ZIC4_ENST00000491672.1_Missense_Mutation_p.K77E	p.K283E	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN			4	1359	-			283					A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	c.847A>G	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	T	33	5.257260	0.95368	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000491672	T;T;T;T;T;T	0.54479	3.19;0.57;0.57;3.19;3.19;1.28	5.05	5.05	0.67936	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.48286	D	0.000189	T	0.66386	0.2784	L	0.47190	1.495	0.47737	D	0.999502	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.74044	-0.3791	9	0.87932	D	0	.	14.795	0.69870	0.0:0.0:0.0:1.0	.	333;283	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	E	283;321;333;283;283;77	ENSP00000372553:K283E;ENSP00000397695:K321E;ENSP00000435509:K333E;ENSP00000417855:K283E;ENSP00000420775:K283E;ENSP00000418277:K77E	ENSP00000372553:K283E	K	-	1	0	ZIC4	148591565	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.954000	0.87848	1.894000	0.54839	0.379000	0.24179	AAG		0.642	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			33	30	0	0	0	1	0	33	30				
DYNC1I2	1781	broad.mit.edu	37	2	172549335	172549335	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr2:172549335C>T	ENST00000397119.3	+	3	324	c.157C>T	c.(157-159)Ctt>Ttt	p.L53F	DYNC1I2_ENST00000409197.1_Missense_Mutation_p.L53F|DYNC1I2_ENST00000340296.4_Missense_Mutation_p.L53F|DYNC1I2_ENST00000409317.1_Missense_Mutation_p.L53F|DYNC1I2_ENST00000508530.1_Missense_Mutation_p.L53F|DYNC1I2_ENST00000409773.1_Missense_Mutation_p.L53F|DYNC1I2_ENST00000409453.1_Missense_Mutation_p.L53F|DYNC1I2_ENST00000410079.3_Missense_Mutation_p.L53F|DYNC1I2_ENST00000534253.2_Missense_Mutation_p.L53F|DYNC1I2_ENST00000358002.6_Missense_Mutation_p.L53F|DYNC1I2_ENST00000263811.4_Missense_Mutation_p.L53F	NM_001378.1	NP_001369.1	Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	53					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|G2/M transition of mitotic cell cycle (GO:0000086)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|microtubule (GO:0005874)|vesicle (GO:0031982)	microtubule motor activity (GO:0003777)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			AGAATCAGATCTTGAAAAAAA	0.353																																						ENST00000534253.2																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15						c.(157-159)Ctt>Ttt		dynein, cytoplasmic 1, intermediate chain 2							44.0	43.0	43.0					2																	172549335		1836	4092	5928	SO:0001583	missense	1781				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity	g.chr2:172549335C>T	AK055491	CCDS46450.1, CCDS63054.1, CCDS63056.1, CCDS63057.1	2q31.1	2013-01-10	2005-11-24	2005-11-24	ENSG00000077380	ENSG00000077380		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2964	protein-coding gene	gene with protein product		603331	"""dynein, cytoplasmic, intermediate polypeptide 2"""	DNCI2		10049579, 16260502	Standard	NM_001378		Approved		uc002uha.2	Q13409	OTTHUMG00000154061	ENST00000397119.3:c.157C>T	2.37:g.172549335C>T	ENSP00000380308:p.Leu53Phe					DYNC1I2_ENST00000410079.3_Missense_Mutation_p.L53F|DYNC1I2_ENST00000409773.1_Missense_Mutation_p.L53F|DYNC1I2_ENST00000508530.1_Missense_Mutation_p.L53F|DYNC1I2_ENST00000409197.1_Missense_Mutation_p.L53F|DYNC1I2_ENST00000358002.6_Missense_Mutation_p.L53F|DYNC1I2_ENST00000263811.4_Missense_Mutation_p.L53F|DYNC1I2_ENST00000397119.3_Missense_Mutation_p.L53F|DYNC1I2_ENST00000340296.4_Missense_Mutation_p.L53F|DYNC1I2_ENST00000409317.1_Missense_Mutation_p.L53F|DYNC1I2_ENST00000409453.1_Missense_Mutation_p.L53F	p.L53F			Q13409	DC1I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.198)		3	325	+			53					B7ZA04|D3DPD4|D3DPD5|D3DPD6|Q32LY9|Q53S84|Q5BJF8|Q7Z4X1|Q96NG7|Q96S87|Q9BXZ5|Q9NT58	Missense_Mutation	SNP	ENST00000397119.3	37	c.157C>T	CCDS46450.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.627962	0.87560	.	.	ENSG00000077380	ENST00000452242;ENST00000340296;ENST00000534253;ENST00000263811;ENST00000397119;ENST00000410079;ENST00000438879;ENST00000508530;ENST00000409197;ENST00000456808;ENST00000409317;ENST00000409773;ENST00000411953;ENST00000409453;ENST00000358002;ENST00000435234;ENST00000443458;ENST00000412370;ENST00000423910;ENST00000425485;ENST00000430778;ENST00000422646	T;T;T;T;T;T;T;T;T;T;T	0.78816	-1.12;-1.21;-1.09;-0.97;-0.88;-0.88;-1.12;-1.09;-0.97;-0.83;-0.88	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.86218	0.5880	M	0.71581	2.175	0.58432	D	0.999995	D;D;D;D;D	0.71674	0.997;0.995;0.998;0.998;0.997	D;D;D;D;D	0.74674	0.951;0.965;0.984;0.984;0.951	D	0.86342	0.1705	10	0.54805	T	0.06	-16.5844	13.1532	0.59500	0.0:0.9272:0.0:0.0728	.	53;53;53;53;53	B7ZA04;Q13409-2;Q13409-6;Q13409-3;Q13409	.;.;.;.;DC1I2_HUMAN	F	53	ENSP00000339430:L53F;ENSP00000433791:L53F;ENSP00000263811:L53F;ENSP00000380308:L53F;ENSP00000386522:L53F;ENSP00000423339:L53F;ENSP00000386397:L53F;ENSP00000386591:L53F;ENSP00000386415:L53F;ENSP00000386886:L53F;ENSP00000350692:L53F	ENSP00000263811:L53F	L	+	1	0	DYNC1I2	172257581	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.514000	0.60482	2.712000	0.92718	0.585000	0.79938	CTT		0.353	DYNC1I2-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333683.2	NM_001378		7	16	0	0	0	1	0	7	16				
CSF2RA	1438	broad.mit.edu	37	X	1409282	1409282	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chrX:1409282G>T	ENST00000381524.3	+	7	712	c.526G>T	c.(526-528)Gtg>Ttg	p.V176L	BX649553.4_ENST00000580687.1_RNA|CSF2RA_ENST00000355432.3_Missense_Mutation_p.V176L|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000381500.1_Missense_Mutation_p.V176L|CSF2RA_ENST00000381509.3_Missense_Mutation_p.V176L|CSF2RA_ENST00000361536.3_Missense_Mutation_p.V176L|CSF2RA_ENST00000501036.2_Missense_Mutation_p.V43L|CSF2RA_ENST00000417535.2_Missense_Mutation_p.V176L|CSF2RA_ENST00000432318.2_Missense_Mutation_p.V176L|CSF2RA_ENST00000381529.3_Missense_Mutation_p.V176L|BX649553.3_ENST00000581137.1_RNA|CSF2RA_ENST00000355805.2_Missense_Mutation_p.V176L			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	176					response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	AGGAACCCATGTGGGATGTCA	0.433																																					Esophageal Squamous(131;723 1707 25334 40494 41806)	ENST00000381524.3																			0				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45						c.(526-528)Gtg>Ttg		colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	Sargramostim(DB00020)						301.0	290.0	294.0					X																	1409282		2203	4296	6499	SO:0001583	missense	0					extracellular region|integral to plasma membrane	cytokine receptor activity	g.chrX:1409282G>T	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"""CD molecules"", ""Pseudoautosomal regions / PAR1"""	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.526G>T	X.37:g.1409282G>T	ENSP00000370935:p.Val176Leu					CSF2RA_ENST00000381509.3_Missense_Mutation_p.V176L|CSF2RA_ENST00000381500.1_Missense_Mutation_p.V176L|CSF2RA_ENST00000361536.3_Missense_Mutation_p.V176L|CSF2RA_ENST00000355432.3_Missense_Mutation_p.V176L|CSF2RA_ENST00000381529.3_Missense_Mutation_p.V176L|CSF2RA_ENST00000501036.2_Missense_Mutation_p.V43L|CSF2RA_ENST00000432318.2_Missense_Mutation_p.V176L|CSF2RA_ENST00000417535.2_Missense_Mutation_p.V176L|CSF2RA_ENST00000355805.2_Missense_Mutation_p.V176L	p.V176L			P15509	CSF2R_HUMAN			7	712	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	176					A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Missense_Mutation	SNP	ENST00000381524.3	37	c.526G>T	CCDS35191.1	.	.	.	.	.	.	.	.	.	.	.	10.88	1.476381	0.26511	.	.	ENSG00000198223	ENST00000381529;ENST00000432318;ENST00000361536;ENST00000381507;ENST00000501036;ENST00000381524;ENST00000412290;ENST00000419094;ENST00000381509;ENST00000355805;ENST00000355432;ENST00000417535;ENST00000381500	D;D;D;D;D;D;D;D;D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7;-1.7;-1.7;-1.7;-1.7;-1.7;-1.7;-1.7;-1.7	1.57	-0.861	0.10676	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.139383	0.28510	U	0.015093	T	0.77572	0.4150	.	.	.	0.09310	N	1	P;P;P;P;P;P	0.51653	0.737;0.906;0.947;0.506;0.687;0.884	B;P;P;B;B;P	0.51055	0.326;0.575;0.657;0.203;0.189;0.493	T	0.67264	-0.5714	9	0.40728	T	0.16	.	2.3376	0.04252	0.2561:0.3363:0.4076:0.0	.	176;176;176;176;176;176	P15509-2;A7J003;P15509-3;P15509-6;P15509-5;P15509	.;.;.;.;.;CSF2R_HUMAN	L	176;176;176;176;43;176;176;176;176;176;176;176;176	ENSP00000370940:V176L;ENSP00000416437:V176L;ENSP00000354836:V176L;ENSP00000440491:V43L;ENSP00000370935:V176L;ENSP00000410667:V176L;ENSP00000397452:V176L;ENSP00000370920:V176L;ENSP00000348058:V176L;ENSP00000347606:V176L;ENSP00000394227:V176L;ENSP00000370911:V176L	ENSP00000347606:V176L	V	+	1	0	CSF2RA	1369282	0.006000	0.16342	0.004000	0.12327	0.033000	0.12548	0.044000	0.13992	-0.070000	0.12908	0.280000	0.19369	GTG		0.433	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2			38	196	1	0	5.20837e-25	1	5.77313e-25	38	196				
CDH12	1010	broad.mit.edu	37	5	21817119	21817119	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr5:21817119C>A	ENST00000382254.1	-	9	2023	c.937G>T	c.(937-939)Ggg>Tgg	p.G313W	CDH12_ENST00000522262.1_Missense_Mutation_p.G273W|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.G313W	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	313	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						AAATTTCCCCCATCTCCTGGA	0.383										HNSCC(59;0.17)																												ENST00000382254.1																			0				NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(937-939)Ggg>Tgg		cadherin 12, type 2 (N-cadherin 2)							150.0	148.0	149.0					5																	21817119		2203	4300	6503	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21817119C>A	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.937G>T	5.37:g.21817119C>A	ENSP00000371689:p.Gly313Trp	HNSCC(59;0.17)				CDH12_ENST00000504376.2_Missense_Mutation_p.G313W|CDH12_ENST00000522262.1_Missense_Mutation_p.G273W|CDH12_ENST00000521384.1_5'UTR	p.G313W	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN			9	2023	-			313			Cadherin 3.		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.937G>T	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.389102	0.82902	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.51817	0.69;0.69;0.69	4.97	4.97	0.65823	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.75554	0.3865	M	0.90595	3.13	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.81782	-0.0775	10	0.87932	D	0	.	18.5819	0.91174	0.0:1.0:0.0:0.0	.	273;313	B7Z2U6;P55289	.;CAD12_HUMAN	W	313;313;273	ENSP00000423577:G313W;ENSP00000371689:G313W;ENSP00000428786:G273W	ENSP00000371689:G313W	G	-	1	0	CDH12	21852876	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.314000	0.78988	2.435000	0.82474	0.585000	0.79938	GGG		0.383	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		62	98	1	0	3.00467e-41	1	3.41271e-41	62	98				
MYBPC2	4606	broad.mit.edu	37	19	50962009	50962009	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr19:50962009C>T	ENST00000357701.5	+	21	2555	c.2504C>T	c.(2503-2505)gCg>gTg	p.A835V		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	835					cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		AGGGAGATTGCGGGTGCGTGG	0.672																																						ENST00000357701.5																			0				breast(1)	1						c.(2503-2505)gCg>gTg		myosin binding protein C, fast type							22.0	28.0	26.0					19																	50962009		2074	4206	6280	SO:0001583	missense	4606				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50962009C>T		CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.2504C>T	19.37:g.50962009C>T	ENSP00000350332:p.Ala835Val						p.A835V	NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)	21	2555	+		all_neural(266;0.057)	835					A1L4G9	Missense_Mutation	SNP	ENST00000357701.5	37	c.2504C>T	CCDS46152.1	.	.	.	.	.	.	.	.	.	.	c	5.393	0.257768	0.10239	.	.	ENSG00000086967	ENST00000357701	T	0.54675	0.56	4.05	0.239	0.15484	Immunoglobulin-like fold (1);	721.544000	0.01540	N	0.019188	T	0.19046	0.0457	N	0.00459	-1.475	0.23401	N	0.997757	B	0.02656	0.0	B	0.01281	0.0	T	0.40117	-0.9580	10	0.06757	T	0.87	.	8.2892	0.31948	0.0:0.3265:0.0:0.6735	.	835	Q14324	MYPC2_HUMAN	V	835	ENSP00000350332:A835V	ENSP00000350332:A835V	A	+	2	0	MYBPC2	55653821	0.911000	0.30947	0.275000	0.24674	0.363000	0.29612	2.467000	0.45093	0.049000	0.15920	0.457000	0.33378	GCG		0.672	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533		3	17	0	0	0	1	0	3	17				
FAM86DP	692099	broad.mit.edu	37	3	75476735	75476735	+	RNA	SNP	C	C	T			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr3:75476735C>T	ENST00000459803.1	-	0	621					NR_024241.1				family with sequence similarity 86, member D, pseudogene									p.E194E(3)									CTCGGAGCTGCTCGAGGACCC	0.602																																						ENST00000459803.1																			3	Substitution - coding silent(3)	p.E194E(3)	kidney(2)|endometrium(1)																																																0							g.chr3:75476735C>T	BC016686		3p12.3	2010-06-04	2010-06-04	2010-06-04	ENSG00000244026	ENSG00000244026			32659	pseudogene	pseudogene			"""family with sequence similarity 86, member D"""	FAM86D			Standard	NR_024241		Approved		uc003dpp.4		OTTHUMG00000158855		3.37:g.75476735C>T								NR_024241.1						0	621	-									RNA	SNP	ENST00000459803.1	37																																																																																						0.602	FAM86DP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352425.1	NR_024241		5	46	0	0	0	1	0	5	46				
CD300LF	146722	broad.mit.edu	37	17	72700686	72700686	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr17:72700686T>C	ENST00000326165.6	-	2	424	c.313A>G	c.(313-315)Act>Gct	p.T105A	CD300LF_ENST00000464910.1_Missense_Mutation_p.T108A|RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000343125.4_Missense_Mutation_p.T108A|CD300LF_ENST00000301573.9_Missense_Mutation_p.T105A|CD300LF_ENST00000581500.1_Missense_Mutation_p.T108A|CD300LF_ENST00000361254.4_Missense_Mutation_p.T108A|CD300LF_ENST00000583937.1_Missense_Mutation_p.T105A|RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000469092.1_Missense_Mutation_p.T108A	NM_139018.3	NP_620587.2	Q8TDQ1	CLM1_HUMAN	CD300 molecule-like family member f	105	Ig-like V-type.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CACCAGTAAGTGTCAGCATCA	0.478																																						ENST00000469092.1																			0				endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(322-324)Act>Gct		CD300 molecule-like family member f							260.0	219.0	233.0					17																	72700686		2203	4300	6503	SO:0001583	missense	146722					integral to membrane|plasma membrane	receptor activity	g.chr17:72700686T>C	BC028199	CCDS11704.1, CCDS74148.1, CCDS74149.1, CCDS74150.1, CCDS74151.1, CCDS74152.1	17q25.2	2013-01-11	2006-03-29		ENSG00000186074	ENSG00000186074		"""Immunoglobulin superfamily / V-set domain containing"""	29883	protein-coding gene	gene with protein product		609807	"""CD300 antigen like family member F"""			12975309	Standard	NM_139018		Approved	IREM1, NKIR, IGSF13, CD300f, CLM1	uc002jlg.3	Q8TDQ1	OTTHUMG00000067609	ENST00000326165.6:c.313A>G	17.37:g.72700686T>C	ENSP00000327075:p.Thr105Ala					CD300LF_ENST00000583937.1_Missense_Mutation_p.T105A|CD300LF_ENST00000464910.1_Missense_Mutation_p.T108A|CD300LF_ENST00000581500.1_Missense_Mutation_p.T108A|RAB37_ENST00000402449.4_Intron|RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000343125.4_Missense_Mutation_p.T108A|CD300LF_ENST00000361254.4_Missense_Mutation_p.T108A|CD300LF_ENST00000326165.6_Missense_Mutation_p.T105A|CD300LF_ENST00000301573.9_Missense_Mutation_p.T105A	p.T108A			Q8TDQ1	CLM1_HUMAN			3	598	-			105			Ig-like V-type.		B2RCL2|C9JDN3|Q3Y6P0|Q6UX24|Q7Z6A6|Q7Z7I4|Q7Z7I5|Q8N6D0|Q8NAF5	Missense_Mutation	SNP	ENST00000326165.6	37	c.322A>G	CCDS11704.1	.	.	.	.	.	.	.	.	.	.	T	18.37	3.609880	0.66558	.	.	ENSG00000186074	ENST00000301573;ENST00000361254;ENST00000343125;ENST00000326165	T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5	5.29	-2.06	0.07298	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.778750	0.03190	N	0.173214	T	0.67373	0.2886	M	0.86502	2.82	0.09310	N	1	B;B;B;P;B;B	0.43909	0.103;0.399;0.278;0.821;0.026;0.025	B;B;B;B;B;B	0.33568	0.05;0.069;0.148;0.166;0.031;0.018	T	0.57717	-0.7763	10	0.41790	T	0.15	.	3.6584	0.08229	0.3758:0.1748:0.0:0.4494	.	105;108;108;105;105;108	E7EME0;Q8TDQ1-2;Q8TDQ1-4;Q8TDQ1-5;Q8TDQ1;Q8TDQ1-6	.;.;.;.;CLM1_HUMAN;.	A	105;108;108;105	ENSP00000301573:T105A;ENSP00000355294:T108A;ENSP00000343751:T108A;ENSP00000327075:T105A	ENSP00000301573:T105A	T	-	1	0	CD300LF	70212281	0.000000	0.05858	0.000000	0.03702	0.890000	0.51754	-1.686000	0.01929	-0.212000	0.10109	0.533000	0.62120	ACT		0.478	CD300LF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000145085.1	NM_139018		71	104	0	0	0	1	0	71	104				
SZT2	23334	broad.mit.edu	37	1	43897195	43897195	+	Splice_Site	SNP	G	G	A			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr1:43897195G>A	ENST00000562955.1	+	34	4917		c.e34+1		SZT2_ENST00000372442.1_Splice_Site	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)						central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CATGAATGAGGTGAGCCCCCC	0.498																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.e34+1		seizure threshold 2 homolog (mouse)							107.0	106.0	107.0					1																	43897195		2203	4300	6503	SO:0001630	splice_region_variant	23334					peroxisome		g.chr1:43897195G>A	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.4917+1G>A	1.37:g.43897195G>A						SZT2_ENST00000372442.1_Splice_Site		NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			34	4917	+								A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Splice_Site	SNP	ENST00000562955.1	37		CCDS30694.2	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183813	0.78677	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4188	0.94712	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SZT2	43669782	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.219000	0.95173	2.664000	0.90586	0.655000	0.94253	.		0.498	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284	Intron	58	14	0	0	0	1	0	58	14				
DOCK3	1795	broad.mit.edu	37	3	51392325	51392325	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr3:51392325G>T	ENST00000266037.9	+	41	4143	c.4120G>T	c.(4120-4122)Gtg>Ttg	p.V1374L		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1374	DHR-2.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CAAAGAATACGTGTGCCGTGG	0.542																																						ENST00000266037.9																			0				breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(4120-4122)Gtg>Ttg		dedicator of cytokinesis 3							143.0	147.0	146.0					3																	51392325		2096	4220	6316	SO:0001583	missense	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51392325G>T	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.4120G>T	3.37:g.51392325G>T	ENSP00000266037:p.Val1374Leu						p.V1374L	NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	41	4143	+			1374			DHR-2.		O15017	Missense_Mutation	SNP	ENST00000266037.9	37	c.4120G>T	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.310507	0.81358	.	.	ENSG00000088538	ENST00000266037;ENST00000402669	T	0.09538	2.97	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.18257	0.0438	L	0.61218	1.895	0.80722	D	1	B	0.18610	0.029	B	0.25291	0.059	T	0.01844	-1.1262	10	0.54805	T	0.06	.	19.8481	0.96728	0.0:0.0:1.0:0.0	.	1374	Q8IZD9	DOCK3_HUMAN	L	1374;170	ENSP00000266037:V1374L	ENSP00000266037:V1374L	V	+	1	0	DOCK3	51367365	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	9.860000	0.99555	2.705000	0.92388	0.650000	0.86243	GTG		0.542	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		39	131	1	0	8.69298e-16	1	9.40887e-16	39	131				
TG	7038	broad.mit.edu	37	8	134128882	134128882	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr8:134128882A>G	ENST00000220616.4	+	45	7824	c.7784A>G	c.(7783-7785)gAc>gGc	p.D2595G	TG_ENST00000377869.1_Missense_Mutation_p.D2538G|TG_ENST00000519543.1_Missense_Mutation_p.D728G|TG_ENST00000542445.1_Missense_Mutation_p.D965G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2595					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCTATAATCGACATGGCCAGT	0.537																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(7783-7785)gAc>gGc		thyroglobulin							102.0	91.0	95.0					8																	134128882		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:134128882A>G	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7784A>G	8.37:g.134128882A>G	ENSP00000220616:p.Asp2595Gly					TG_ENST00000377869.1_Missense_Mutation_p.D2538G|TG_ENST00000519543.1_Missense_Mutation_p.D728G|TG_ENST00000542445.1_Missense_Mutation_p.D965G	p.D2595G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	45	7824	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	2595					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.7784A>G	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	A	16.69	3.193850	0.58017	.	.	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543;ENST00000521107	T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;0.86	5.68	1.79	0.24919	Carboxylesterase, type B (1);	0.351124	0.27744	N	0.018028	T	0.58018	0.2093	L	0.48877	1.53	0.29591	N	0.848405	P;B;P	0.45044	0.849;0.168;0.849	B;B;B	0.43990	0.338;0.047;0.438	T	0.58120	-0.7692	10	0.72032	D	0.01	.	6.6445	0.22927	0.6066:0.3154:0.0779:0.0	.	728;965;2595	E7EVM0;F5GWW5;P01266	.;.;THYG_HUMAN	G	2538;1401;2595;965;728;44	ENSP00000367100:D2538G;ENSP00000220616:D2595G;ENSP00000441693:D965G;ENSP00000430430:D728G;ENSP00000430161:D44G	ENSP00000220616:D2595G	D	+	2	0	TG	134198064	0.956000	0.32656	0.946000	0.38457	0.648000	0.38561	0.749000	0.26320	0.431000	0.26258	0.454000	0.30748	GAC		0.537	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		57	69	0	0	0	1	0	57	69				
RBM46	166863	broad.mit.edu	37	4	155720132	155720132	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr4:155720132A>G	ENST00000281722.3	+	4	1053	c.818A>G	c.(817-819)tAt>tGt	p.Y273C	RBM46_ENST00000514866.1_Missense_Mutation_p.Y273C|RBM46_ENST00000510397.1_Missense_Mutation_p.Y273C	NM_144979.3	NP_659416.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	273	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				CTTAGAGATTATGCTTTTGTT	0.363																																						ENST00000510397.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26						c.(817-819)tAt>tGt		RNA binding motif protein 46							104.0	94.0	98.0					4																	155720132		2203	4300	6503	SO:0001583	missense	166863						nucleotide binding|RNA binding	g.chr4:155720132A>G	BC028588	CCDS3790.1, CCDS64085.1, CCDS64086.1	4q32.1	2013-02-12				ENSG00000151962		"""RNA binding motif (RRM) containing"""	28401	protein-coding gene	gene with protein product	"""cancer/testis antigen 68"""					12477932	Standard	NM_144979		Approved	MGC27016, CT68	uc003ioo.4	Q8TBY0		ENST00000281722.3:c.818A>G	4.37:g.155720132A>G	ENSP00000281722:p.Tyr273Cys					RBM46_ENST00000514866.1_Missense_Mutation_p.Y273C|RBM46_ENST00000281722.3_Missense_Mutation_p.Y273C	p.Y273C	NM_001277173.1	NP_001264102.1	Q8TBY0	RBM46_HUMAN			4	997	+	all_hematologic(180;0.24)	Renal(120;0.0854)	273			RRM 3.		B3KWU8|B4DZ27	Missense_Mutation	SNP	ENST00000281722.3	37	c.818A>G	CCDS3790.1	.	.	.	.	.	.	.	.	.	.	A	17.24	3.339765	0.60963	.	.	ENSG00000151962	ENST00000514866;ENST00000281722;ENST00000510397	T;T;T	0.76839	-1.05;-1.05;-1.05	6.07	6.07	0.98685	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.84701	0.5530	L	0.52759	1.655	0.80722	D	1	P;P;P	0.50156	0.932;0.883;0.921	P;P;P	0.62740	0.599;0.906;0.856	D	0.85834	0.1393	10	0.87932	D	0	-15.6603	16.6288	0.85011	1.0:0.0:0.0:0.0	.	273;273;273	B4DZ27;B3KWU8;Q8TBY0	.;.;RBM46_HUMAN	C	273	ENSP00000424500:Y273C;ENSP00000281722:Y273C;ENSP00000422813:Y273C	ENSP00000281722:Y273C	Y	+	2	0	RBM46	155939582	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.806000	0.69150	2.326000	0.78906	0.533000	0.62120	TAT		0.363	RBM46-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365259.1	NM_144979		23	16	0	0	0	1	0	23	16				
NBPF10	100132406	broad.mit.edu	37	1	145296403	145296403	+	Silent	SNP	C	C	T	rs4996269	byFrequency	TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr1:145296403C>T	ENST00000342960.5	+	3	360	c.325C>T	c.(325-327)Cta>Tta	p.L109L	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	109						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GCTGACCCAGCTAAGGGAGAA	0.517																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(325-327)Cta>Tta		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145296403C>T	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.325C>T	1.37:g.145296403C>T						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR	p.L109L	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	3	360	+	all_hematologic(923;0.032)		109					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.325C>T	CCDS53355.1																																																																																				0.517	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		5	189	0	0	0	1	0	5	189				
DAAM1	23002	broad.mit.edu	37	14	59782054	59782054	+	Silent	SNP	C	C	G			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr14:59782054C>G	ENST00000395125.1	+	3	353	c.330C>G	c.(328-330)ctC>ctG	p.L110L	DAAM1_ENST00000360909.3_Silent_p.L110L|DAAM1_ENST00000351081.1_Silent_p.L110L	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	110	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)	p.L110L(1)		breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TTGATCAGCTCAATTCCATGG	0.383																																						ENST00000395125.1																			1	Substitution - coding silent(1)	p.L110L(1)	cervix(1)	breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(328-330)ctC>ctG		dishevelled associated activator of morphogenesis 1							226.0	194.0	205.0					14																	59782054		2203	4300	6503	SO:0001819	synonymous_variant	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59782054C>G	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.330C>G	14.37:g.59782054C>G						DAAM1_ENST00000360909.3_Silent_p.L110L|DAAM1_ENST00000351081.1_Silent_p.L110L	p.L110L	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	3	353	+			110			GBD/FH3.		Q86U34|Q8N1Z8|Q8TB39	Silent	SNP	ENST00000395125.1	37	c.330C>G	CCDS9737.1																																																																																				0.383	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		11	90	0	0	0	1	0	11	90				
GPR150	285601	broad.mit.edu	37	5	94956331	94956331	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr5:94956331G>A	ENST00000380007.2	+	1	550	c.352G>A	c.(352-354)Ggg>Agg	p.G118R		NM_199243.1	NP_954713.1	Q8NGU9	GP150_HUMAN	G protein-coupled receptor 150	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			lung(2)	2		all_cancers(142;0.000462)|all_epithelial(76;2.44e-06)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)		all cancers(79;1.82e-16)		CGCGGCCACGGGGGACCTGGC	0.766																																						ENST00000380007.2																			0				lung(2)	2						c.(352-354)Ggg>Agg		G protein-coupled receptor 150							2.0	2.0	2.0					5																	94956331		1223	2628	3851	SO:0001583	missense	285601					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr5:94956331G>A	BC030197	CCDS4074.1	5q15	2012-08-21			ENSG00000178015	ENSG00000178015		"""GPCR / Class A : Orphans"""	23628	protein-coding gene	gene with protein product						12679517	Standard	NM_199243		Approved	PGR11	uc003kle.1	Q8NGU9	OTTHUMG00000121170	ENST00000380007.2:c.352G>A	5.37:g.94956331G>A	ENSP00000369344:p.Gly118Arg						p.G118R	NM_199243.1	NP_954713.1	Q8NGU9	GP150_HUMAN		all cancers(79;1.82e-16)	1	550	+		all_cancers(142;0.000462)|all_epithelial(76;2.44e-06)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)	118						Missense_Mutation	SNP	ENST00000380007.2	37	c.352G>A	CCDS4074.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.186283	0.57909	.	.	ENSG00000178015	ENST00000380007	T	0.50548	0.74	3.97	2.18	0.27775	GPCR, rhodopsin-like superfamily (1);	0.131140	0.31897	N	0.006890	T	0.63908	0.2551	M	0.79011	2.435	0.28402	N	0.918583	D	0.76494	0.999	D	0.75020	0.985	T	0.57780	-0.7752	10	0.51188	T	0.08	-11.554	9.0477	0.36356	0.1788:0.0:0.8212:0.0	.	118	Q8NGU9	GP150_HUMAN	R	118	ENSP00000369344:G118R	ENSP00000369344:G118R	G	+	1	0	GPR150	94982087	0.942000	0.31987	0.036000	0.18154	0.756000	0.42949	1.500000	0.35682	0.350000	0.24002	0.462000	0.41574	GGG		0.766	GPR150-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241657.2			2	2	0	0	0	1	0	2	2				
SORCS1	114815	broad.mit.edu	37	10	108468989	108468989	+	Missense_Mutation	SNP	A	A	C			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr10:108468989A>C	ENST00000263054.6	-	7	1142	c.1135T>G	c.(1135-1137)Ttt>Gtt	p.F379V	SORCS1_ENST00000344440.6_Missense_Mutation_p.F379V	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	379					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ACCTGAACAAACACATAATGA	0.418																																						ENST00000263054.6																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127						c.(1135-1137)Ttt>Gtt		sortilin-related VPS10 domain containing receptor 1							116.0	107.0	110.0					10																	108468989		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108468989A>C	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.1135T>G	10.37:g.108468989A>C	ENSP00000263054:p.Phe379Val					SORCS1_ENST00000344440.6_Missense_Mutation_p.F379V	p.F379V	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	7	1142	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	379					A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.1135T>G	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.452799	0.84209	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.54279	0.58;0.58	5.71	5.71	0.89125	VPS10 (1);	0.052875	0.85682	D	0.000000	T	0.74045	0.3665	M	0.80422	2.495	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	T	0.76274	-0.3019	9	.	.	.	-17.4364	15.9924	0.80217	1.0:0.0:0.0:0.0	.	379;379;379;379;379	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	V	379	ENSP00000263054:F379V;ENSP00000345964:F379V	.	F	-	1	0	SORCS1	108458979	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.985000	0.76193	2.187000	0.69744	0.533000	0.62120	TTT		0.418	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		3	59	0	0	0	1	0	3	59				
L3MBTL4	91133	broad.mit.edu	37	18	6241395	6241395	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr18:6241395G>T	ENST00000284898.6	-	8	714	c.514C>A	c.(514-516)Caa>Aaa	p.Q172K	L3MBTL4_ENST00000317931.7_Missense_Mutation_p.Q172K|L3MBTL4_ENST00000535782.1_5'UTR|L3MBTL4_ENST00000400104.3_Missense_Mutation_p.Q172K|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.Q172K	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	172					chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				GGAGCATTTTGCAATTTGCAG	0.308																																					Esophageal Squamous(41;748 902 17366 28959 43175)	ENST00000400104.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(514-516)Caa>Aaa		l(3)mbt-like 4 (Drosophila)							88.0	101.0	96.0					18																	6241395		2202	4296	6498	SO:0001583	missense	91133				chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:6241395G>T	BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"""Sterile alpha motif (SAM) domain containing"""	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.514C>A	18.37:g.6241395G>T	ENSP00000284898:p.Gln172Lys					L3MBTL4_ENST00000400105.2_Missense_Mutation_p.Q172K|L3MBTL4_ENST00000535782.1_5'UTR|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.Q172K|L3MBTL4_ENST00000284898.6_Missense_Mutation_p.Q172K	p.Q172K			Q8NA19	LMBL4_HUMAN			8	714	-		Colorectal(10;0.0249)	172					A8MTL8|Q8IXS3	Missense_Mutation	SNP	ENST00000284898.6	37	c.514C>A	CCDS11839.2	.	.	.	.	.	.	.	.	.	.	G	19.98	3.927151	0.73327	.	.	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000400104	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.3	4.41	0.53225	.	0.196285	0.33691	N	0.004655	T	0.51449	0.1675	M	0.70595	2.14	0.80722	D	1	P;P	0.51791	0.876;0.948	B;P	0.53722	0.178;0.733	T	0.50233	-0.8852	10	0.13853	T	0.58	.	12.8677	0.57948	0.0:0.0:0.8357:0.1643	.	172;172	Q8NA19;F8W9S8	LMBL4_HUMAN;.	K	172	ENSP00000382976:Q172K;ENSP00000318543:Q172K;ENSP00000284898:Q172K;ENSP00000382975:Q172K	ENSP00000284898:Q172K	Q	-	1	0	L3MBTL4	6231395	1.000000	0.71417	0.995000	0.50966	0.774000	0.43823	4.183000	0.58317	1.195000	0.43115	0.460000	0.39030	CAA		0.308	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254448.2	NM_173464		73	19	1	0	1.15773e-35	1	1.29892e-35	73	19				
EHD2	30846	broad.mit.edu	37	19	48244389	48244389	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr19:48244389G>A	ENST00000263277.3	+	6	1583	c.1332G>A	c.(1330-1332)tgG>tgA	p.W444*	EHD2_ENST00000540884.1_3'UTR|EHD2_ENST00000538399.1_Nonsense_Mutation_p.W308*	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	444					blood coagulation (GO:0007596)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein localization to plasma membrane (GO:0072659)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		AGGCCGAGTGGGTGGTGACCA	0.647																																						ENST00000263277.3																			0				endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19						c.(1330-1332)tgG>tgA		EH-domain containing 2							85.0	68.0	74.0					19																	48244389		2203	4299	6502	SO:0001587	stop_gained	30846				blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding	g.chr19:48244389G>A	AF181263	CCDS12704.1	19q13.3	2014-08-12			ENSG00000024422	ENSG00000024422		"""EF-hand domain containing"""	3243	protein-coding gene	gene with protein product		605890		PAST2		10673336	Standard	NM_014601		Approved		uc002phj.4	Q9NZN4	OTTHUMG00000183266	ENST00000263277.3:c.1332G>A	19.37:g.48244389G>A	ENSP00000263277:p.Trp444*					EHD2_ENST00000538399.1_Nonsense_Mutation_p.W308*|EHD2_ENST00000540884.1_3'UTR	p.W444*	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)	6	1583	+		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)	444					B2RDH9|B4DNU6|Q96CB6	Nonsense_Mutation	SNP	ENST00000263277.3	37	c.1332G>A	CCDS12704.1	.	.	.	.	.	.	.	.	.	.	G	37	5.991547	0.97179	.	.	ENSG00000024422	ENST00000263277;ENST00000540364;ENST00000538399;ENST00000540884	.	.	.	4.13	4.13	0.48395	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-20.8062	14.267	0.66126	0.0:0.0:1.0:0.0	.	.	.	.	X	444;434;308;127	.	.	W	+	3	0	EHD2	52936201	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	9.631000	0.98424	2.024000	0.59613	0.561000	0.74099	TGG		0.647	EHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465851.1			6	44	0	0	0	1	0	6	44				
ERN2	10595	broad.mit.edu	37	16	23716446	23716446	+	Silent	SNP	G	G	A			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr16:23716446G>A	ENST00000457008.2	-	8	650	c.612C>T	c.(610-612)tgC>tgT	p.C204C	ERN2_ENST00000256797.4_Silent_p.C252C					endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GGCCCATCCCGCAGGACGCCA	0.647																																						ENST00000256797.4																			0				large_intestine(2)|lung(2)|ovary(2)	6						c.(754-756)tgC>tgT		endoplasmic reticulum to nucleus signaling 2							42.0	41.0	41.0					16																	23716446		2197	4300	6497	SO:0001819	synonymous_variant	10595				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	g.chr16:23716446G>A	AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"""ER to nucleus signalling 2"""			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.612C>T	16.37:g.23716446G>A						ERN2_ENST00000457008.2_Silent_p.C204C	p.C252C	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	8	924	-			204						Silent	SNP	ENST00000457008.2	37	c.756C>T																																																																																					0.647	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1			18	42	0	0	0	1	0	18	42				
ABL2	27	broad.mit.edu	37	1	179100469	179100469	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr1:179100469T>C	ENST00000502732.1	-	3	571	c.368A>G	c.(367-369)gAt>gGt	p.D123G	ABL2_ENST00000507173.1_Missense_Mutation_p.D102G|ABL2_ENST00000392043.3_Missense_Mutation_p.D102G|ABL2_ENST00000344730.3_Missense_Mutation_p.D108G|ABL2_ENST00000504405.1_Missense_Mutation_p.D87G|ABL2_ENST00000512653.1_Missense_Mutation_p.D108G|ABL2_ENST00000408940.3_Missense_Mutation_p.D87G|ABL2_ENST00000367623.4_Missense_Mutation_p.D102G|ABL2_ENST00000511413.1_Missense_Mutation_p.D123G	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	123	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	GAGTGTGTTATCACCACTTGC	0.448			T	ETV6	AML																																	ENST00000502732.1				Dom	yes		1	1q24-q25	27	T	v-abl Abelson murine leukemia viral oncogene homolog 2			L	ETV6		AML		0				breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65						c.(367-369)gAt>gGt		c-abl oncogene 2, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)						90.0	78.0	82.0					1																	179100469		2203	4300	6503	SO:0001583	missense	27				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr1:179100469T>C	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"""SH2 domain containing"""	77	protein-coding gene	gene with protein product	"""Abelson-related gene"""	164690	"""v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)"", ""v-abl Abelson murine leukemia viral oncogene homolog 2"", ""c-abl oncogene 2, non-receptor tyrosine kinase"""	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.368A>G	1.37:g.179100469T>C	ENSP00000427562:p.Asp123Gly					ABL2_ENST00000504405.1_Missense_Mutation_p.D87G|ABL2_ENST00000344730.3_Missense_Mutation_p.D108G|ABL2_ENST00000367623.4_Missense_Mutation_p.D102G|ABL2_ENST00000408940.3_Missense_Mutation_p.D87G|ABL2_ENST00000512653.1_Missense_Mutation_p.D108G|ABL2_ENST00000392043.3_Missense_Mutation_p.D102G|ABL2_ENST00000511413.1_Missense_Mutation_p.D123G|ABL2_ENST00000507173.1_Missense_Mutation_p.D102G	p.D123G	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN			3	571	-			123			SH3.		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Missense_Mutation	SNP	ENST00000502732.1	37	c.368A>G	CCDS30947.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.950111	0.92660	.	.	ENSG00000143322	ENST00000502732;ENST00000408940;ENST00000344730;ENST00000512653;ENST00000504405;ENST00000367623;ENST00000507173;ENST00000511413;ENST00000392043	T;T;T;T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7	5.58	5.58	0.84498	Src homology-3 domain (3);	0.000000	0.52532	D	0.000072	T	0.58793	0.2147	L	0.34521	1.04	0.80722	D	1	D;P;P;P;P;B;P;P;P;P;P	0.89917	1.0;0.739;0.739;0.739;0.739;0.408;0.543;0.598;0.625;0.598;0.739	D;P;P;P;P;B;B;B;B;P;P	0.85130	0.997;0.564;0.564;0.564;0.564;0.269;0.375;0.406;0.329;0.509;0.564	T	0.61997	-0.6947	10	0.66056	D	0.02	.	14.9224	0.70851	0.0:0.0:0.0:1.0	.	102;102;123;87;87;102;87;123;108;87;108	P42684-6;P42684-7;P42684-5;P42684-4;P42684-9;P42684-8;P42684-2;P42684;P42684-3;D1MPS6;P42684-10	.;.;.;.;.;.;.;ABL2_HUMAN;.;.;.	G	123;87;108;108;87;102;102;123;102	ENSP00000427562:D123G;ENSP00000386152:D87G;ENSP00000339209:D108G;ENSP00000423578:D108G;ENSP00000426831:D87G;ENSP00000356595:D102G;ENSP00000423413:D102G;ENSP00000424697:D123G;ENSP00000375897:D102G	ENSP00000339209:D108G	D	-	2	0	ABL2	177367092	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.826000	0.86716	2.106000	0.64143	0.482000	0.46254	GAT		0.448	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		4	73	0	0	0	1	0	4	73				
CCDC185	164127	broad.mit.edu	37	1	223568629	223568629	+	Silent	SNP	C	C	T			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr1:223568629C>T	ENST00000366875.3	+	1	1915	c.1812C>T	c.(1810-1812)tcC>tcT	p.S604S		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		604										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		CCAACAGCTCCCTTGATCAGA	0.582																																						ENST00000366875.3																			0				breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29						c.(1810-1812)tcC>tcT		chromosome 1 open reading frame 65							50.0	50.0	50.0					1																	223568629		2203	4300	6503	SO:0001819	synonymous_variant	164127							g.chr1:223568629C>T																												ENST00000366875.3:c.1812C>T	1.37:g.223568629C>T							p.S604S	NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN		GBM - Glioblastoma multiforme(131;0.0704)	1	1915	+			604					Q8N746|Q8NA93	Silent	SNP	ENST00000366875.3	37	c.1812C>T	CCDS1537.1																																																																																				0.582	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092718.1			19	34	0	0	0	1	0	19	34				
AHNAK2	113146	broad.mit.edu	37	14	105415731	105415731	+	Silent	SNP	C	C	T	rs139340205	byFrequency	TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr14:105415731C>T	ENST00000333244.5	-	7	6176	c.6057G>A	c.(6055-6057)gaG>gaA	p.E2019E	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2019						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCACGTCGGCCTCCACCTTGG	0.617													.|||	45	0.00898562	0.0083	0.0029	5008	,	,		15681	0.0308		0.0	False		,,,				2504	0.001					ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(6055-6057)gaG>gaA		AHNAK nucleoprotein 2							130.0	110.0	117.0					14																	105415731		1931	4063	5994	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105415731C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.6057G>A	14.37:g.105415731C>T						AHNAK2_ENST00000557457.1_Intron	p.E2019E	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	6176	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2019					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.6057G>A	CCDS45177.1																																																																																				0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		4	145	0	0	0	1	0	4	145				
POM121L9P	29774	broad.mit.edu	37	22	24659593	24659593	+	RNA	SNP	C	C	T			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr22:24659593C>T	ENST00000414583.2	+	0	3118					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		TCACTGACATCGAAGGCTGCC	0.632																																						ENST00000414583.2																			0																																																			0							g.chr22:24659593C>T	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659593C>T								NR_003714.1						0	3118	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.632	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		4	31	0	0	0	1	0	4	31				
MGAT5	4249	broad.mit.edu	37	2	135076222	135076222	+	Splice_Site	SNP	G	G	T			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr2:135076222G>T	ENST00000409645.1	+	5	737	c.485G>T	c.(484-486)tGg>tTg	p.W162L	MGAT5_ENST00000281923.2_Splice_Site_p.W162L			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	162					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		TTGTTTCAGTGGATGAAAGAC	0.488																																						ENST00000409645.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36						c.e5-1		mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase							231.0	217.0	222.0					2																	135076222		2203	4300	6503	SO:0001630	splice_region_variant	4249				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity	g.chr2:135076222G>T	D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.484-1G>T	2.37:g.135076222G>T						MGAT5_ENST00000281923.2_Splice_Site_p.W162_splice	p.W162_splice			Q09328	MGT5A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0964)	5	737	+			162					D3DP70	Splice_Site	SNP	ENST00000409645.1	37	c.483_splice	CCDS2171.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.906859	0.72868	.	.	ENSG00000152127	ENST00000409645;ENST00000281923	.	.	.	5.69	5.69	0.88448	.	0.117452	0.64402	D	0.000007	T	0.80110	0.4563	M	0.77486	2.375	0.80722	D	1	D	0.57899	0.981	D	0.70487	0.969	T	0.81837	-0.0749	9	0.87932	D	0	-9.8788	17.9926	0.89172	0.0:0.0:1.0:0.0	.	162	Q09328	MGT5A_HUMAN	L	162	.	ENSP00000281923:W162L	W	+	2	0	MGAT5	134792692	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.444000	0.97578	2.685000	0.91497	0.655000	0.94253	TGG		0.488	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254584.3	NM_002410	Missense_Mutation	7	254	1	0	0.000274275	1	0.000277289	7	254				
DYRK1A	1859	broad.mit.edu	37	21	38884668	38884668	+	Missense_Mutation	SNP	G	G	A	rs374771208		TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr21:38884668G>A	ENST00000398960.2	+	11	2201	c.2126G>A	c.(2125-2127)cGc>cAc	p.R709H	DYRK1A_ENST00000339659.4_Missense_Mutation_p.R700H|DYRK1A_ENST00000455387.2_Missense_Mutation_p.R481H|DYRK1A_ENST00000338785.3_3'UTR	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	709					circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						TCCAATCCCCGCCAAGAGACT	0.488																																					Melanoma(114;464 1602 31203 43785 45765)	ENST00000339659.3																			0				breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(2098-2100)cGc>cAc		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A		G	,,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	104.0	91.0	95.0		,,2099,2126	4.8	1.0	21		95	0,8600		0,0,4300	no	utr-3,utr-3,missense,missense	DYRK1A	NM_101395.2,NM_130438.2,NM_130436.2,NM_001396.3	,,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,benign,benign	,,700/755,709/764	38884668	1,13005	2203	4300	6503	SO:0001583	missense	1859				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity	g.chr21:38884668G>A	U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.2126G>A	21.37:g.38884668G>A	ENSP00000381932:p.Arg709His					DYRK1A_ENST00000455387.2_Missense_Mutation_p.R481H|DYRK1A_ENST00000398960.2_Missense_Mutation_p.R709H|DYRK1A_ENST00000338785.3_3'UTR	p.R700H	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN			11	3569	+			709					O60769|Q92582|Q92810|Q9UNM5	Missense_Mutation	SNP	ENST00000398960.2	37	c.2099G>A	CCDS42925.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.638440	0.67130	2.27E-4	0.0	ENSG00000157540	ENST00000339659;ENST00000398960;ENST00000455387	T;T;T	0.58506	0.33;0.37;0.92	5.73	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.45316	0.1336	N	0.24115	0.695	0.80722	D	1	B;B	0.17465	0.013;0.022	B;B	0.09377	0.002;0.004	T	0.36890	-0.9729	10	0.56958	D	0.05	.	14.9122	0.70767	0.0689:0.0:0.9311:0.0	.	709;700	Q13627;Q13627-2	DYR1A_HUMAN;.	H	700;709;481	ENSP00000340373:R700H;ENSP00000381932:R709H;ENSP00000407854:R481H	ENSP00000340373:R700H	R	+	2	0	DYRK1A	37806538	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.357000	0.97099	1.433000	0.47394	-0.150000	0.13652	CGC		0.488	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194804.1	NM_001396		50	41	0	0	0	1	0	50	41				
NOL4L	140688	broad.mit.edu	37	20	31035489	31035489	+	Silent	SNP	C	C	T			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr20:31035489C>T	ENST00000359676.5	-	8	1363	c.1221G>A	c.(1219-1221)gtG>gtA	p.V407V	RP5-1184F4.5_ENST00000442179.1_RNA	NM_001256798.1|NM_080616.4	NP_001243727.1|NP_542183.2	Q96MY1	NOL4L_HUMAN		407						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						TGAGCTGCCGCACGGCGCTGA	0.672																																						ENST00000359676.5																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						c.(1219-1221)gtG>gtA		chromosome 20 open reading frame 112							30.0	31.0	30.0					20																	31035489		2203	4300	6503	SO:0001819	synonymous_variant	140688							g.chr20:31035489C>T																												ENST00000359676.5:c.1221G>A	20.37:g.31035489C>T							p.V407V	NM_001256798.1|NM_080616.4	NP_001243727.1|NP_542183.2	Q96MY1	CT112_HUMAN			8	1363	-			407					Q5JYB7|Q6P0Y4|Q9BR34|Q9NQF6	Silent	SNP	ENST00000359676.5	37	c.1221G>A	CCDS13202.1																																																																																				0.672	C20orf112-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078628.2			28	30	0	0	0	1	0	28	30				
NEK11	79858	broad.mit.edu	37	3	131068482	131068482	+	Missense_Mutation	SNP	C	C	T	rs147225516		TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr3:131068482C>T	ENST00000510688.1	+	16	1927	c.1703C>T	c.(1702-1704)gCg>gTg	p.A568V	NEK11_ENST00000412440.2_Silent_p.S416S|NEK11_ENST00000510769.1_Silent_p.S495S|NEK11_ENST00000508196.1_Silent_p.S600S|RP11-933H2.4_ENST00000502521.1_RNA|NEK11_ENST00000429253.2_Silent_p.S600S|NEK11_ENST00000383366.4_Silent_p.S600S|RP11-933H2.4_ENST00000513905.1_RNA	NM_001146003.1	NP_001139475.1			NIMA-related kinase 11											breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						AGAATGCTAGCGAAGCAGAGA	0.458													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18241	0.0		0.0	False		,,,				2504	0.0					ENST00000510688.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						c.(1702-1704)gCg>gTg		NIMA-related kinase 11		C	VAL/ALA,	3,4403	6.2+/-15.9	0,3,2200	98.0	100.0	99.0		1703,1800	-11.3	0.0	3	dbSNP_134	99	0,8600		0,0,4300	no	missense,coding-synonymous	NEK11	NM_001146003.1,NM_024800.4	64,	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	,	568/600,600/646	131068482	3,13003	2203	4300	6503	SO:0001583	missense	79858				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr3:131068482C>T	AK027148	CCDS3069.1, CCDS46915.1, CCDS54639.1	3q22.1	2012-11-15	2012-11-15		ENSG00000114670	ENSG00000114670			18593	protein-coding gene	gene with protein product		609779	"""NIMA (never in mitosis gene a)- related kinase 11"""				Standard	NM_024800		Approved	FLJ23495	uc003eny.3	Q8NG66	OTTHUMG00000159654	ENST00000510688.1:c.1703C>T	3.37:g.131068482C>T	ENSP00000423458:p.Ala568Val					NEK11_ENST00000412440.2_Silent_p.S416S|NEK11_ENST00000510769.1_Silent_p.S495S|NEK11_ENST00000508196.1_Silent_p.S600S|RP11-933H2.4_ENST00000502521.1_RNA|RP11-933H2.4_ENST00000513905.1_RNA|NEK11_ENST00000383366.4_Silent_p.S600S|NEK11_ENST00000429253.2_Silent_p.S600S	p.A568V	NM_001146003.1	NP_001139475.1	Q8NG66	NEK11_HUMAN			16	1927	+			0						Missense_Mutation	SNP	ENST00000510688.1	37	c.1703C>T	CCDS54639.1	.	.	.	.	.	.	.	.	.	.	C	5.176	0.217977	0.09810	6.81E-4	0.0	ENSG00000114670	ENST00000510688	T	0.70516	-0.49	5.65	-11.3	0.00108	.	.	.	.	.	T	0.55752	0.1940	.	.	.	0.45676	D	0.998592	B	0.06786	0.001	B	0.06405	0.002	T	0.41592	-0.9500	8	0.45353	T	0.12	.	15.4265	0.75055	0.0751:0.1781:0.0:0.7468	.	568	Q8NG66-4	.	V	568	ENSP00000423458:A568V	ENSP00000423458:A568V	A	+	2	0	NEK11	132551172	0.015000	0.18098	0.001000	0.08648	0.465000	0.32709	-1.572000	0.02136	-2.933000	0.00300	-1.421000	0.01109	GCG		0.458	NEK11-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356758.1	NM_024800		22	47	0	0	0	1	0	22	47				
UGT1A1	54658	broad.mit.edu	37	2	234526858	234526858	+	Missense_Mutation	SNP	G	G	A	rs549093448		TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr2:234526858G>A	ENST00000373450.4	+	1	568	c.505G>A	c.(505-507)Gcc>Acc	p.A169T		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	172					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	TGTGGTCTTCGCCAGGGGAAT	0.468													-|||	1	0.000199681	0.0	0.0	5008	,	,		18096	0.0		0.0	False		,,,				2504	0.001					ENST00000373450.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)	30						c.(505-507)Gcc>Acc									167.0	170.0	169.0					2																	234526858		2203	4300	6503	SO:0001583	missense	0							g.chr2:234526858G>A	M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000373450.4:c.505G>A	2.37:g.234526858G>A	ENSP00000362549:p.Ala169Thr						p.A169T	NM_019076.4	NP_061949.3				Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	568	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)						A6NJC3|B8K286	Missense_Mutation	SNP	ENST00000373450.4	37	c.505G>A	CCDS33402.1	.	.	.	.	.	.	.	.	.	.	G	4.991	0.184013	0.09495	.	.	ENSG00000242366	ENST00000373450	T	0.61742	0.08	3.96	-2.17	0.07059	.	.	.	.	.	T	0.27663	0.0680	N	0.03115	-0.41	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.09377	0.004;0.004	T	0.13683	-1.0500	9	0.62326	D	0.03	.	3.4087	0.07351	0.4335:0.0:0.2941:0.2724	.	169;169	Q5DSZ6;Q9HAW9	.;UD18_HUMAN	T	169	ENSP00000362549:A169T	ENSP00000362549:A169T	A	+	1	0	UGT1A8	234191597	0.000000	0.05858	0.047000	0.18901	0.040000	0.13550	-1.956000	0.01522	-0.461000	0.06993	-0.438000	0.05819	GCC		0.468	UGT1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130994.1			53	192	0	0	0	1	0	53	192				
ABCC11	85320	broad.mit.edu	37	16	48210912	48210912	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr16:48210912G>T	ENST00000394747.1	-	24	3810	c.3461C>A	c.(3460-3462)aCa>aAa	p.T1154K	ABCC11_ENST00000394748.1_Missense_Mutation_p.T1154K|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000356608.2_Missense_Mutation_p.T1154K|ABCC11_ENST00000353782.5_Missense_Mutation_p.T1154K	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1154	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	CACGGTGGGTGTGTTGTCTCT	0.557																																						ENST00000394747.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83						c.(3460-3462)aCa>aAa		ATP-binding cassette, sub-family C (CFTR/MRP), member 11							197.0	157.0	171.0					16																	48210912		2201	4300	6501	SO:0001583	missense	85320					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48210912G>T	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.3461C>A	16.37:g.48210912G>T	ENSP00000378230:p.Thr1154Lys					ABCC11_ENST00000353782.5_Missense_Mutation_p.T1154K|ABCC11_ENST00000356608.2_Missense_Mutation_p.T1154K|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000394748.1_Missense_Mutation_p.T1154K	p.T1154K	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN			24	3810	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	1154			ABC transporter 2.		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	c.3461C>A	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.813366	0.32053	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747	D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62	5.34	0.897	0.19258	ABC transporter-like (1);	0.201133	0.40302	N	0.001123	T	0.80460	0.4627	N	0.13198	0.31	0.23506	N	0.99754	D;B	0.53462	0.96;0.271	P;B	0.46110	0.504;0.096	T	0.73122	-0.4082	10	0.42905	T	0.14	-0.641	4.6274	0.12484	0.2557:0.3045:0.4398:0.0	.	1154;1154	Q96J66-2;Q96J66	.;ABCCB_HUMAN	K	1154	ENSP00000311326:T1154K;ENSP00000349017:T1154K;ENSP00000378231:T1154K;ENSP00000378230:T1154K	ENSP00000311326:T1154K	T	-	2	0	ABCC11	46768413	0.012000	0.17670	0.179000	0.23059	0.543000	0.35085	0.686000	0.25392	0.247000	0.21414	0.561000	0.74099	ACA		0.557	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		20	15	1	0	1.56452e-12	1	1.67368e-12	20	15				
KRT6C	286887	broad.mit.edu	37	12	52867083	52867083	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr12:52867083G>A	ENST00000252250.6	-	1	486	c.439C>T	c.(439-441)Ccc>Tcc	p.P147S		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	147	Head.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		AGGTTGAGGGGAGTCAGGAGA	0.617																																						ENST00000252250.6																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23						c.(439-441)Ccc>Tcc		keratin 6C							55.0	36.0	43.0					12																	52867083		2173	3906	6079	SO:0001583	missense	286887				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:52867083G>A	L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"""-"", ""Intermediate filaments type II, keratins (basic)"""	20406	protein-coding gene	gene with protein product		612315	"""keratin 6E"""	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.439C>T	12.37:g.52867083G>A	ENSP00000252250:p.Pro147Ser						p.P147S	NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0828)	1	486	-			147			Head.		A1L4L5|P48666|Q2TAZ9|Q7RTN9	Missense_Mutation	SNP	ENST00000252250.6	37	c.439C>T	CCDS8829.1	.	.	.	.	.	.	.	.	.	.	g	21.0	4.087088	0.76642	.	.	ENSG00000170465	ENST00000252250;ENST00000411979	T	0.77229	-1.08	2.98	2.98	0.34508	.	0.203980	0.34725	N	0.003722	D	0.90947	0.7154	H	0.95816	3.725	0.54753	D	0.999988	D	0.89917	1.0	D	0.97110	1.0	D	0.93939	0.7221	10	0.87932	D	0	.	15.261	0.73621	0.0:0.0:1.0:0.0	.	147	P48668	K2C6C_HUMAN	S	147;132	ENSP00000252250:P147S	ENSP00000252250:P147S	P	-	1	0	KRT6C	51153350	.	.	0.511000	0.27724	0.840000	0.47671	.	.	1.974000	0.57490	0.508000	0.49915	CCC		0.617	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404976.1	NM_173086		39	22	0	0	0	1	0	39	22				
FRAS1	80144	broad.mit.edu	37	4	79460508	79460508	+	Missense_Mutation	SNP	T	T	A			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr4:79460508T>A	ENST00000264895.6	+	73	11799	c.11359T>A	c.(11359-11361)Ttt>Att	p.F3787I		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3783					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						TGAGGCTCACTTTGCCTCTGA	0.418																																						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.(11359-11361)Ttt>Att		Fraser syndrome 1							156.0	154.0	155.0					4																	79460508		1921	4144	6065	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79460508T>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.11359T>A	4.37:g.79460508T>A	ENSP00000264895:p.Phe3787Ile						p.F3787I	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			73	11799	+			3782					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.11359T>A	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	33|33	5.227914|5.227914	0.95173|0.95173	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	T|.	0.66099|.	-0.19|.	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74504|0.74504	0.3725|0.3725	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.83275|.	0.996|.	T|T	0.74169|0.74169	-0.3752|-0.3752	10|5	0.66056|.	D|.	0.02|.	.|.	16.2813|16.2813	0.82687|0.82687	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	3787|.	E9PHH6|.	.|.	I|H	3787|2015	ENSP00000264895:F3787I|.	ENSP00000264895:F3787I|.	F|L	+|+	1|2	0|0	FRAS1|FRAS1	79679532|79679532	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.904000|0.904000	0.53231|0.53231	7.877000|7.877000	0.87225|0.87225	2.244000|2.244000	0.73946|0.73946	0.533000|0.533000	0.62120|0.62120	TTT|CTT		0.418	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				13	77	0	0	0	1	0	13	77				
GIMAP7	168537	broad.mit.edu	37	7	150217736	150217736	+	Missense_Mutation	SNP	C	C	T	rs199951983		TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr7:150217736C>T	ENST00000313543.4	+	2	831	c.674C>T	c.(673-675)aCt>aTt	p.T225I		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	225					GTP catabolic process (GO:0006184)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAAATCTACACTGACCAATTA	0.343													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15950	0.0		0.0	False		,,,				2504	0.0					ENST00000313543.4																			0				breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						c.(673-675)aCt>aTt		GTPase, IMAP family member 7							65.0	65.0	65.0					7																	150217736		2203	4300	6503	SO:0001583	missense	168537						GTP binding	g.chr7:150217736C>T	BC027613	CCDS5903.1	7q36.1	2014-04-04			ENSG00000179144	ENSG00000179144		"""GTPases, IMAP"""	22404	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 7"""					15474311	Standard	NM_153236		Approved	MGC27027, IAN7	uc003whk.3	Q8NHV1	OTTHUMG00000157626	ENST00000313543.4:c.674C>T	7.37:g.150217736C>T	ENSP00000315474:p.Thr225Ile						p.T225I	NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	831	+			225						Missense_Mutation	SNP	ENST00000313543.4	37	c.674C>T	CCDS5903.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	5.465	0.270847	0.10349	.	.	ENSG00000179144	ENST00000313543	T	0.61980	0.06	4.62	1.72	0.24424	.	0.963801	0.08508	N	0.935356	T	0.48677	0.1513	L	0.38175	1.15	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.34304	-0.9834	10	0.37606	T	0.19	.	5.156	0.15034	0.1446:0.6262:0.141:0.0882	.	225	Q8NHV1	GIMA7_HUMAN	I	225	ENSP00000315474:T225I	ENSP00000315474:T225I	T	+	2	0	GIMAP7	149848669	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.134000	0.03228	0.022000	0.15160	-0.797000	0.03246	ACT		0.343	GIMAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349277.1	NM_153236		22	36	0	0	0	1	0	22	36				
NOL4L	140688	broad.mit.edu	37	20	31035488	31035488	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr20:31035488G>A	ENST00000359676.5	-	8	1364	c.1222C>T	c.(1222-1224)Cgg>Tgg	p.R408W	RP5-1184F4.5_ENST00000442179.1_RNA	NM_001256798.1|NM_080616.4	NP_001243727.1|NP_542183.2	Q96MY1	NOL4L_HUMAN		408						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						ATGAGCTGCCGCACGGCGCTG	0.667																																						ENST00000359676.5																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						c.(1222-1224)Cgg>Tgg		chromosome 20 open reading frame 112							30.0	31.0	30.0					20																	31035488		2203	4300	6503	SO:0001583	missense	140688							g.chr20:31035488G>A																												ENST00000359676.5:c.1222C>T	20.37:g.31035488G>A	ENSP00000352704:p.Arg408Trp						p.R408W	NM_001256798.1|NM_080616.4	NP_001243727.1|NP_542183.2	Q96MY1	CT112_HUMAN			8	1364	-			408					Q5JYB7|Q6P0Y4|Q9BR34|Q9NQF6	Missense_Mutation	SNP	ENST00000359676.5	37	c.1222C>T	CCDS13202.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.812086	0.50527	.	.	ENSG00000197183	ENST00000359676	.	.	.	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.79143	0.4396	M	0.71206	2.165	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.81328	-0.0982	9	0.87932	D	0	-31.147	18.547	0.91050	0.0:0.0:1.0:0.0	.	408	Q96MY1	CT112_HUMAN	W	408	.	ENSP00000352704:R408W	R	-	1	2	C20orf112	30499149	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.133000	0.64764	2.680000	0.91292	0.561000	0.74099	CGG		0.667	C20orf112-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078628.2			27	29	0	0	0	1	0	27	29				
DPY19L4	286148	broad.mit.edu	37	8	95768289	95768289	+	Missense_Mutation	SNP	T	T	G			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr8:95768289T>G	ENST00000414645.2	+	7	736	c.637T>G	c.(637-639)Tcc>Gcc	p.S213A		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	213						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					AATTGAATACTCCATTCCTTT	0.313																																						ENST00000414645.2																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21						c.(637-639)Tcc>Gcc		dpy-19-like 4 (C. elegans)							95.0	96.0	96.0					8																	95768289		2202	4299	6501	SO:0001583	missense	286148					integral to membrane		g.chr8:95768289T>G		CCDS34924.1	8q22.1	2006-11-24			ENSG00000156162	ENSG00000156162			27829	protein-coding gene	gene with protein product		613895					Standard	NM_181787		Approved		uc003ygx.2	Q7Z388	OTTHUMG00000164589	ENST00000414645.2:c.637T>G	8.37:g.95768289T>G	ENSP00000389630:p.Ser213Ala						p.S213A	NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN			7	736	+	Breast(36;3.85e-06)		213					Q6ZW32|Q6ZW42|Q7Z329	Missense_Mutation	SNP	ENST00000414645.2	37	c.637T>G	CCDS34924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.52|13.52	2.260365|2.260365	0.39995|0.39995	.|.	.|.	ENSG00000156162|ENSG00000156162	ENST00000523020|ENST00000414645	.|T	.|0.54866	.|0.55	5.29|5.29	4.15|4.15	0.48705|0.48705	.|.	.|0.057125	.|0.64402	.|D	.|0.000001	T|T	0.41650|0.41650	0.1168|0.1168	L|L	0.41236|0.41236	1.265|1.265	0.36270|0.36270	D|D	0.85508|0.85508	.|B	.|0.22851	.|0.076	.|B	.|0.20577	.|0.03	T|T	0.41963|0.41963	-0.9479|-0.9479	5|10	.|0.30078	.|T	.|0.28	-7.1105|-7.1105	10.6741|10.6741	0.45776|0.45776	0.0:0.0756:0.0:0.9244|0.0:0.0756:0.0:0.9244	.|.	.|213	.|Q7Z388	.|D19L4_HUMAN	R|A	56|213	.|ENSP00000389630:S213A	.|ENSP00000389630:S213A	L|S	+|+	2|1	0|0	DPY19L4|DPY19L4	95837465|95837465	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	4.773000|4.773000	0.62331|0.62331	0.965000|0.965000	0.38133|0.38133	0.460000|0.460000	0.39030|0.39030	CTC|TCC		0.313	DPY19L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379339.1	NM_181787		29	57	0	0	0	1	0	29	57				
RHBDF1	64285	broad.mit.edu	37	16	109807	109807	+	Silent	SNP	G	G	A			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr16:109807G>A	ENST00000262316.6	-	14	1882	c.1740C>T	c.(1738-1740)agC>agT	p.S580S		NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	580					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)		p.S580S(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				GGTTCCCAGCGCTGTTTTTGG	0.592																																						ENST00000262316.6																			1	Substitution - coding silent(1)	p.S580S(1)	pancreas(1)	breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18						c.(1738-1740)agC>agT		rhomboid 5 homolog 1 (Drosophila)							170.0	127.0	142.0					16																	109807		2203	4300	6503	SO:0001819	synonymous_variant	64285				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	g.chr16:109807G>A	BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"""chromosome 16 open reading frame 8"", ""rhomboid family 1 (Drosophila)"""	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.1740C>T	16.37:g.109807G>A							p.S580S	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN			14	1882	-		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)	580					Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Silent	SNP	ENST00000262316.6	37	c.1740C>T	CCDS32344.1																																																																																				0.592	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134178.2	NM_022450		27	25	0	0	0	1	0	27	25				
SETD2	29072	broad.mit.edu	37	3	47088034	47088035	+	Frame_Shift_Ins	INS	-	-	TGTA			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr3:47088034_47088035insTGTA	ENST00000409792.3	-	16	7082_7083	c.7040_7041insTACA	c.(7039-7041)cagfs	p.Q2347fs		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2347	Gln-rich.|Low charge region.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CTGCGGCTGGCTGTACCACCAC	0.455			"""N, F, S, Mis"""		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"""N, F, S, Mis"""	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(7039-7041)cccfs		SET domain containing 2																																				SO:0001589	frameshift_variant	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47088034_47088035insTGTA	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.7037_7040dupTACA	3.37:g.47088035_47088038dupTGTA	ENSP00000386759:p.Gln2347fs						p.P2347fs	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	16	7082_7083	-		Acute lymphoblastic leukemia(5;0.0169)	2347			Gln-rich.|Low charge region.		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Frame_Shift_Ins	INS	ENST00000409792.3	37	c.7040_7041insTACA	CCDS2749.2																																																																																				0.455	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		15	48						15	48	---	---	---	---
ZMAT3	64393	broad.mit.edu	37	3	178785379	178785379	+	Silent	SNP	C	C	T	rs374634142		TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr3:178785379C>T	ENST00000311417.2	-	2	903	c.162G>A	c.(160-162)tcG>tcA	p.S54S	ZMAT3_ENST00000432729.1_Silent_p.S54S	NM_022470.3	NP_071915.1			zinc finger, matrin-type 3											breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			CCCCTCCCTTCGATAACTCTT	0.557																																						ENST00000311417.2																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14						c.(160-162)tcG>tcA		zinc finger, matrin-type 3							124.0	117.0	120.0					3																	178785379		2203	4300	6503	SO:0001819	synonymous_variant	64393				apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding	g.chr3:178785379C>T	AK122768	CCDS3224.1, CCDS46962.1	3q26.32	2012-10-05	2010-09-15		ENSG00000172667	ENSG00000172667		"""Zinc fingers, matrin-type"""	29983	protein-coding gene	gene with protein product		606452				9400996, 11689294	Standard	NM_022470		Approved	WIG1, MGC10613, FLJ12296, WIG-1, PAG608	uc003fjg.3	Q9HA38	OTTHUMG00000157290	ENST00000311417.2:c.162G>A	3.37:g.178785379C>T						ZMAT3_ENST00000432729.1_Silent_p.S54S	p.S54S	NM_022470.3	NP_071915.1	Q9HA38	ZMAT3_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)		2	903	-	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		54						Silent	SNP	ENST00000311417.2	37	c.162G>A	CCDS3224.1																																																																																				0.557	ZMAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348336.2	NM_152240		4	79	0	0	0	1	0	4	79				
BRAT1	221927	broad.mit.edu	37	7	2584622	2584622	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr7:2584622delG	ENST00000340611.4	-	4	607	c.351delC	c.(349-351)cccfs	p.P117fs		NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	117					response to ionizing radiation (GO:0010212)	membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						TGCGCACGGTGGGGACGGCCC	0.682																																						ENST00000340611.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						c.(349-351)ccfs		BRCA1-associated ATM activator 1							13.0	13.0	13.0					7																	2584622		2180	4278	6458	SO:0001589	frameshift_variant	221927				response to ionizing radiation	nucleus	protein binding	g.chr7:2584622delG	BC015632	CCDS5334.1	7p22.3	2011-03-22	2011-02-28	2011-03-22	ENSG00000106009	ENSG00000106009			21701	protein-coding gene	gene with protein product	"""BRCA1-associated protein required for ATM activation protein 1"""	614506	"""chromosome 7 open reading frame 27"""	C7orf27, BAAT1		16452482	Standard	NM_152743		Approved	MGC22916	uc003smi.3	Q6PJG6	OTTHUMG00000119091	ENST00000340611.4:c.351delC	7.37:g.2584622delG	ENSP00000339637:p.Pro117fs						p.P117fs	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN			4	607	-			117					A4D200|C9JY24|Q8IW85|Q8IZ43|Q8WVR8|Q96IV9|Q9H7J8|Q9UFA3	Frame_Shift_Del	DEL	ENST00000340611.4	37	c.351delC	CCDS5334.1																																																																																				0.682	BRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239305.2	NM_152743		2	4						2	4	---	---	---	---
RNASEH2B	79621	broad.mit.edu	37	13	51530586	51530587	+	Frame_Shift_Ins	INS	-	-	A	rs200320729|rs75254367|rs112937854	byFrequency	TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr13:51530586_51530587insA	ENST00000336617.3	+	11	1314_1315	c.915_916insA	c.(916-918)aaafs	p.K306fs	RNASEH2B_ENST00000495244.2_3'UTR|RNASEH2B_ENST00000422660.1_Intron	NM_024570.3	NP_078846.2	Q5TBB1	RNH2B_HUMAN	ribonuclease H2, subunit B	306					in utero embryonic development (GO:0001701)|negative regulation of gene expression (GO:0010629)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of DNA damage checkpoint (GO:2000001)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|ribonucleotide metabolic process (GO:0009259)|RNA catabolic process (GO:0006401)	nucleus (GO:0005634)|ribonuclease H2 complex (GO:0032299)	RNA-DNA hybrid ribonuclease activity (GO:0004523)			endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;9e-08)		GGGTAAAAAATAAAAAAAAAAT	0.297													|||unknown(HR)	150	0.0299521	0.0537	0.0058	5008	,	,		16879	0.004		0.0258	False		,,,				2504	0.046					ENST00000336617.3																			0				endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5						c.(913-918)aaaaaafs		ribonuclease H2, subunit B																																				SO:0001589	frameshift_variant	79621				RNA catabolic process	nucleus|ribonuclease H2 complex		g.chr13:51530586_51530587insA	AK021774	CCDS9425.1, CCDS45047.1	13q14.3	2014-09-17	2006-08-17	2006-08-17	ENSG00000136104	ENSG00000136104			25671	protein-coding gene	gene with protein product		610326	"""deleted in lymphocytic leukemia 8"", ""Aicardi-Goutieres syndrome 2"""	DLEU8, AGS2		16845400	Standard	NM_001142279		Approved	FLJ11712	uc001vfa.4	Q5TBB1	OTTHUMG00000016937	ENST00000336617.3:c.925dupA	13.37:g.51530596_51530596dupA	ENSP00000337623:p.Lys306fs					RNASEH2B_ENST00000495244.2_3'UTR|RNASEH2B_ENST00000422660.1_Intron	p.KK305fs	NM_024570.3	NP_078846.2	Q5TBB1	RNH2B_HUMAN		GBM - Glioblastoma multiforme(99;9e-08)	11	1314_1315	+		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)	305					G3XAJ1|Q05DR2|Q6PK48|Q9HAF7	Frame_Shift_Ins	INS	ENST00000336617.3	37	c.915_916insA	CCDS9425.1																																																																																				0.297	RNASEH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045006.3	NM_024570		3	3						3	3	---	---	---	---
LGALS3	3958	broad.mit.edu	37	14	55604096	55604099	+	Frame_Shift_Del	DEL	CAGA	CAGA	-			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr14:55604096_55604099delCAGA	ENST00000254301.9	+	2	266_269	c.5_8delCAGA	c.(4-9)gcagacfs	p.AD2fs	LGALS3_ENST00000554715.1_Frame_Shift_Del_p.AD2fs|LGALS3_ENST00000553755.1_Intron	NM_002306.3	NP_002297.2	P17931	LEG3_HUMAN	lectin, galactoside-binding, soluble, 3	2					eosinophil chemotaxis (GO:0048245)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|mononuclear cell migration (GO:0071674)|mRNA processing (GO:0006397)|negative regulation of endocytosis (GO:0045806)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of immunological synapse formation (GO:2000521)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell receptor signaling pathway (GO:0050860)|neutrophil chemotaxis (GO:0030593)|positive chemotaxis (GO:0050918)|positive regulation of calcium ion import (GO:0090280)|positive regulation of mononuclear cell migration (GO:0071677)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of T cell apoptotic process (GO:0070232)|regulation of T cell proliferation (GO:0042129)|RNA splicing (GO:0008380)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)	carbohydrate binding (GO:0030246)|chemoattractant activity (GO:0042056)|IgE binding (GO:0019863)|laminin binding (GO:0043236)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|prostate(1)	3						AGGAAAATGGCAGACAATTTTTCG	0.377																																						ENST00000254301.9																			0				central_nervous_system(1)|endometrium(1)|prostate(1)	3						c.(4-9)gcfs		lectin, galactoside-binding, soluble, 3																																				SO:0001589	frameshift_variant	3958				cell differentiation|innate immune response|mRNA processing|RNA splicing	mitochondrial inner membrane|plasma membrane|spliceosomal complex	IgE binding|sugar binding	g.chr14:55604096_55604099delCAGA	M64303	CCDS41956.1	14q22.3	2014-03-19	2007-02-01		ENSG00000131981	ENSG00000131981		"""Lectins, galactoside-binding"", ""Endogenous ligands"""	6563	protein-coding gene	gene with protein product	"""galectin 3"""	153619		LGALS2		2009535, 8063692	Standard	NR_003225		Approved	MAC-2, GALIG	uc001xbr.3	P17931	OTTHUMG00000171030	ENST00000254301.9:c.5_8delCAGA	14.37:g.55604096_55604099delCAGA	ENSP00000254301:p.Ala2fs					LGALS3_ENST00000554715.1_Frame_Shift_Del_p.AD2fs|LGALS3_ENST00000553755.1_Intron	p.AD2fs	NM_002306.3	NP_002297.2	P17931	LEG3_HUMAN			2	266_269	+			2					B2RC38|Q16005|Q6IBA7|Q96J47	Frame_Shift_Del	DEL	ENST00000254301.9	37	c.5_8delCAGA	CCDS41956.1																																																																																				0.377	LGALS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411309.1	NM_002306		21	116						21	116	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25328156	25328156	+	RNA	DEL	T	T	-			TCGA-DH-A669-02A-11D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b020b62a-8acf-40d2-97ab-aa870ac61e96	e849abef-b55e-4124-b760-09101a7c4390	g.chr15:25328156delT	ENST00000546682.1	+	0	188				SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA|SNORD116-15_ENST00000384445.1_RNA|SNORD116-18_ENST00000383961.1_RNA|SNORD116-17_ENST00000383929.1_RNA|SNORD116-16_ENST00000384533.1_RNA|SNORD116-14_ENST00000383894.1_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		TAGGAAATTGTTTTAGGGACT	0.493																																						ENST00000546682.1																			0																																																			0							g.chr15:25328156delT			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25328156delT						SNHG14_ENST00000549804.2_RNA		NR_003361.1						0	188	+									RNA	DEL	ENST00000546682.1	37																																																																																						0.493	SNHG14-022	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000408281.1			5	5						5	5	---	---	---	---
