#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
PKD1	5310	broad.mit.edu	37	16	2147949	2147949	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr16:2147949G>A	ENST00000262304.4	-	31	10295	c.10087C>T	c.(10087-10089)Cag>Tag	p.Q3363*	PKD1_ENST00000423118.1_Nonsense_Mutation_p.Q3363*|RP11-304L19.1_ENST00000570072.1_RNA|RP11-304L19.3_ENST00000565937.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3363					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TCCAGCACCTGCTGCCCGGCA	0.662																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(10087-10089)Cag>Tag		polycystic kidney disease 1 (autosomal dominant)							6.0	7.0	7.0					16																	2147949		2090	4139	6229	SO:0001587	stop_gained	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2147949G>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.10087C>T	16.37:g.2147949G>A	ENSP00000262304:p.Gln3363*					PKD1_ENST00000423118.1_Nonsense_Mutation_p.Q3363*	p.Q3363*	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			31	10295	-			3363					Q15140|Q15141	Nonsense_Mutation	SNP	ENST00000262304.4	37	c.10087C>T	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	G	51	18.532958	0.99906	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	.	.	.	4.29	4.29	0.51040	.	0.300883	0.32459	N	0.006066	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	16.9254	0.86175	0.0:0.0:1.0:0.0	.	.	.	.	X	3363;3363;2698	.	ENSP00000262304:Q3363X	Q	-	1	0	PKD1	2087950	1.000000	0.71417	0.024000	0.17045	0.205000	0.24178	5.932000	0.70121	2.234000	0.73211	0.555000	0.69702	CAG		0.662	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			3	31	0	0	0	0.115264	0	3	31				
OOSP2	219990	broad.mit.edu	37	11	59812148	59812148	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr11:59812148T>C	ENST00000278855.2	+	3	433	c.248T>C	c.(247-249)gTt>gCt	p.V83A	PLAC1L_ENST00000532905.1_Missense_Mutation_p.V52A	NM_173801.3	NP_776162.2	Q86WS3	OOSP2_HUMAN		83						extracellular region (GO:0005576)				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						TCCTAGGTAGTTTCTGAGGAA	0.398																																						ENST00000278855.2																			0				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						c.(247-249)gTt>gCt									94.0	85.0	88.0					11																	59812148		2201	4295	6496	SO:0001583	missense	0					extracellular region		g.chr11:59812148T>C																												ENST00000278855.2:c.248T>C	11.37:g.59812148T>C	ENSP00000278855:p.Val83Ala					PLAC1L_ENST00000532905.1_Missense_Mutation_p.V52A	p.V83A	NM_173801.3	NP_776162.2	Q86WS3	PLACL_HUMAN			3	433	+			83					E9PJA4|Q8N9U6	Missense_Mutation	SNP	ENST00000278855.2	37	c.248T>C	CCDS7979.1	.	.	.	.	.	.	.	.	.	.	T	10.24	1.296406	0.23650	.	.	ENSG00000149507	ENST00000278855;ENST00000532905	D;D	0.81908	-1.55;-1.55	2.74	2.74	0.32292	.	.	.	.	.	T	0.77491	0.4138	L	0.54323	1.7	0.09310	N	1	B	0.23185	0.081	B	0.20767	0.031	T	0.69866	-0.5029	9	0.72032	D	0.01	-1.6591	7.3313	0.26584	0.0:0.0:0.0:1.0	.	83	Q86WS3	PLACL_HUMAN	A	83;52	ENSP00000278855:V83A;ENSP00000433831:V52A	ENSP00000278855:V83A	V	+	2	0	PLAC1L	59568724	0.167000	0.22975	0.012000	0.15200	0.057000	0.15508	2.476000	0.45171	1.504000	0.48704	0.460000	0.39030	GTT		0.398	PLAC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394411.1			28	135	0	0	0	0.681144	0	28	135				
CROCCP3	114819	broad.mit.edu	37	1	16809784	16809784	+	RNA	SNP	T	T	G	rs564105362	byFrequency	TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr1:16809784T>G	ENST00000263511.4	-	0	2001					NR_023386.1		Q8IVE0	CROL2_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 3						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CCCGGCACCTTCTCAGGAGCT	0.632													.|||	29	0.00579073	0.0083	0.0043	5008	,	,		12250	0.0069		0.005	False		,,,				2504	0.0031					ENST00000263511.4																			0																																																			0							g.chr1:16809784T>G	AB067509		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000080947	ENSG00000080947			29405	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 2"""	CROCCL2		11572484	Standard	NR_023386		Approved	KIAA1922	uc001ayt.2	Q8IVE0	OTTHUMG00000037885		1.37:g.16809784T>G								NR_023386.1						0	2001	-								Q96PW6	RNA	SNP	ENST00000263511.4	37																																																																																						0.632	CROCCP3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000458172.1	XM_057040		2	10	0	0	0	0.115264	0	2	10				
ERBB3	2065	broad.mit.edu	37	12	56495733	56495733	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr12:56495733C>T	ENST00000267101.3	+	28	4363	c.3923C>T	c.(3922-3924)gCc>gTc	p.A1308V	RP11-603J24.9_ENST00000548861.1_Intron|ERBB3_ENST00000553131.1_Missense_Mutation_p.A549V|ERBB3_ENST00000415288.2_Missense_Mutation_p.A1249V|RP11-603J24.17_ENST00000548595.1_RNA|ERBB3_ENST00000549832.1_Missense_Mutation_p.A428V|PA2G4_ENST00000303305.6_5'Flank|PA2G4_ENST00000552766.1_5'Flank|ERBB3_ENST00000450146.2_Missense_Mutation_p.A665V	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1308					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GTCCATTATGCCCGCCTAAAA	0.527																																						ENST00000267101.3																			0				central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(3922-3924)gCc>gTc		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3							129.0	140.0	136.0					12																	56495733		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56495733C>T	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.3923C>T	12.37:g.56495733C>T	ENSP00000267101:p.Ala1308Val					ERBB3_ENST00000553131.1_Missense_Mutation_p.A549V|ERBB3_ENST00000549832.1_Missense_Mutation_p.A428V|ERBB3_ENST00000450146.2_Missense_Mutation_p.A665V|ERBB3_ENST00000415288.2_Missense_Mutation_p.A1249V|RP11-603J24.9_ENST00000548861.1_Intron	p.A1308V	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		28	4363	+			1308					A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.3923C>T	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	C	0.798	-0.756446	0.03019	.	.	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288;ENST00000550070;ENST00000553131;ENST00000549832	T;T;T;T;T	0.79454	-1.13;-1.04;-1.12;-1.27;-1.01	5.39	3.57	0.40892	.	0.744698	0.12746	N	0.442597	T	0.58061	0.2096	N	0.08118	0	0.31198	N	0.700137	B;B;B	0.14438	0.01;0.006;0.005	B;B;B	0.18561	0.022;0.015;0.006	T	0.55114	-0.8191	10	0.27785	T	0.31	.	9.312	0.37910	0.0:0.6495:0.2745:0.076	.	1249;428;1308	P21860-4;B3KWG5;P21860	.;.;ERBB3_HUMAN	V	1308;665;1249;431;549;428	ENSP00000267101:A1308V;ENSP00000399178:A665V;ENSP00000408340:A1249V;ENSP00000449129:A549V;ENSP00000448729:A428V	ENSP00000267101:A1308V	A	+	2	0	ERBB3	54782000	1.000000	0.71417	0.826000	0.32828	0.023000	0.10783	2.894000	0.48640	0.840000	0.34995	-0.136000	0.14681	GCC		0.527	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			5	341	0	0	0	0.217242	0	5	341				
MAST4	375449	broad.mit.edu	37	5	66448610	66448610	+	Silent	SNP	G	G	A	rs377567041		TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr5:66448610G>A	ENST00000403625.2	+	25	3736	c.3441G>A	c.(3439-3441)tcG>tcA	p.S1147S	MAST4_ENST00000405643.1_Silent_p.S968S|MAST4_ENST00000403666.1_Silent_p.S958S|MAST4_ENST00000404260.3_Silent_p.S1150S|MAST4_ENST00000261569.7_Silent_p.S953S	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1150	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TCCACAGTTCGGGGAAGAACT	0.542													G|||	1	0.000199681	0.0	0.0	5008	,	,		18762	0.0		0.0	False		,,,				2504	0.001					ENST00000404260.3																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(3448-3450)tcG>tcA		microtubule associated serine/threonine kinase family member 4		G	,	0,3960		0,0,1980	86.0	86.0	86.0		3441,2874	-9.4	0.6	5		86	1,8337		0,1,4168	no	coding-synonymous,coding-synonymous	MAST4	NM_001164664.1,NM_015183.2	,	0,1,6148	AA,AG,GG		0.012,0.0,0.0081	,	1147/2624,958/2435	66448610	1,12297	1980	4169	6149	SO:0001819	synonymous_variant	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66448610G>A	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.3441G>A	5.37:g.66448610G>A						MAST4_ENST00000405643.1_Silent_p.S968S|MAST4_ENST00000261569.7_Silent_p.S953S|MAST4_ENST00000403625.2_Silent_p.S1147S|MAST4_ENST00000403666.1_Silent_p.S958S	p.S1150S			O15021	MAST4_HUMAN		Lung(70;0.011)	25	3758	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	1150			PDZ.		A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Silent	SNP	ENST00000403625.2	37	c.3450G>A	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	G	9.401	1.078020	0.20227	0.0	1.2E-4	ENSG00000069020	ENST00000443808	.	.	.	6.17	-9.37	0.00626	.	.	.	.	.	T	0.41604	0.1166	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49351	-0.8949	4	.	.	.	-5.0902	5.0244	0.14378	0.2308:0.166:0.449:0.1541	.	.	.	.	R	204	.	.	G	+	1	0	MAST4	66484366	0.000000	0.05858	0.609000	0.28983	0.948000	0.59901	-3.916000	0.00335	-1.268000	0.02439	-0.946000	0.02672	GGG		0.542	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			7	154	0	0	0	0.278610	0	7	154				
HCN3	57657	broad.mit.edu	37	1	155257756	155257756	+	Silent	SNP	G	G	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr1:155257756G>A	ENST00000368358.3	+	8	1835	c.1827G>A	c.(1825-1827)gcG>gcA	p.A609A	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	609					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.A609A(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGGTACATGCGCCCCTTCAGG	0.627																																						ENST00000368358.3																			1	Substitution - coding silent(1)	p.A609A(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1825-1827)gcG>gcA		hyperpolarization activated cyclic nucleotide-gated potassium channel 3							61.0	58.0	59.0					1																	155257756		2203	4300	6503	SO:0001819	synonymous_variant	57657					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr1:155257756G>A	AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.1827G>A	1.37:g.155257756G>A						HCN3_ENST00000496230.1_3'UTR	p.A609A	NM_020897.1	NP_065948.1	Q9P1Z3	HCN3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		8	1835	+	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		609					D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	Silent	SNP	ENST00000368358.3	37	c.1827G>A	CCDS1108.1																																																																																				0.627	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087388.1	NM_020897		8	95	0	0	0	0.361761	0	8	95				
C3	718	broad.mit.edu	37	19	6697496	6697496	+	Silent	SNP	G	G	A	rs140780068		TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr19:6697496G>A	ENST00000245907.6	-	21	2747	c.2655C>T	c.(2653-2655)acC>acT	p.T885T		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	885					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	GGATGGTTACGGTCTGCTGGT	0.587																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(2653-2655)acC>acT		complement component 3							120.0	94.0	102.0					19																	6697496		2203	4300	6503	SO:0001819	synonymous_variant	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6697496G>A	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2655C>T	19.37:g.6697496G>A							p.T885T	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	21	2747	-			885					A7E236	Silent	SNP	ENST00000245907.6	37	c.2655C>T	CCDS32883.1																																																																																				0.587	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		9	117	0	0	0	0.307466	0	9	117				
FAM154A	158297	broad.mit.edu	37	9	18928507	18928507	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr9:18928507C>T	ENST00000380534.4	-	4	1247	c.968G>A	c.(967-969)cGa>cAa	p.R323Q	FAM154A_ENST00000380530.1_3'UTR|FAM154A_ENST00000542071.1_Missense_Mutation_p.R131Q	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	323										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		AAGTGCAGGTCGGCAGGACTG	0.562																																						ENST00000380534.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26						c.(967-969)cGa>cAa		family with sequence similarity 154, member A							80.0	72.0	75.0					9																	18928507		2203	4300	6503	SO:0001583	missense	158297							g.chr9:18928507C>T	BC033489	CCDS6487.1, CCDS75819.1, CCDS75820.1	9p22.1	2012-03-23	2008-02-21	2008-02-21	ENSG00000155875	ENSG00000155875			28566	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 138"""	C9orf138		12477932	Standard	NM_153707		Approved	MGC35182	uc003zni.2	Q8IYX7	OTTHUMG00000019609	ENST00000380534.4:c.968G>A	9.37:g.18928507C>T	ENSP00000369907:p.Arg323Gln					FAM154A_ENST00000542071.1_Missense_Mutation_p.R131Q|FAM154A_ENST00000380530.1_3'UTR	p.R323Q	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN		GBM - Glioblastoma multiforme(50;6.53e-16)	4	1247	-			323					Q5VY58	Missense_Mutation	SNP	ENST00000380534.4	37	c.968G>A	CCDS6487.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.133533	0.56828	.	.	ENSG00000155875	ENST00000380534;ENST00000542071	T;T	0.28255	2.51;1.62	5.09	3.26	0.37387	.	0.164198	0.29444	N	0.012122	T	0.49150	0.1540	M	0.79475	2.455	0.28768	N	0.900503	D	0.89917	1.0	D	0.85130	0.997	T	0.45440	-0.9261	10	0.59425	D	0.04	-4.3564	3.8762	0.09058	0.168:0.5718:0.0:0.2602	.	323	Q8IYX7	F154A_HUMAN	Q	323;131	ENSP00000369907:R323Q;ENSP00000438823:R131Q	ENSP00000369907:R323Q	R	-	2	0	FAM154A	18918507	0.678000	0.27586	0.979000	0.43373	0.587000	0.36485	1.342000	0.33919	0.732000	0.32470	0.650000	0.86243	CGA		0.562	FAM154A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051811.1	NM_153707		9	147	0	0	0	0.335167	0	9	147				
MTA2	9219	broad.mit.edu	37	11	62361480	62361480	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr11:62361480A>C	ENST00000278823.2	-	18	2263	c.1874T>G	c.(1873-1875)aTg>aGg	p.M625R	MIR3654_ENST00000496634.2_5'Flank|MTA2_ENST00000524902.1_Missense_Mutation_p.M452R|TUT1_ENST00000476907.1_5'Flank|MTA2_ENST00000527204.1_Missense_Mutation_p.M452R|TUT1_ENST00000308436.7_5'Flank	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	625					ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						AGCTCGCCGCATTTCCAGATG	0.592											OREG0021027	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000278823.2																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						c.(1873-1875)aTg>aGg		metastasis associated 1 family, member 2							93.0	88.0	90.0					11																	62361480		2202	4299	6501	SO:0001583	missense	9219				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:62361480A>C	AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"""GATA zinc finger domain containing"""	7411	protein-coding gene	gene with protein product		603947	"""metastasis associated gene family, member 2"""	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.1874T>G	11.37:g.62361480A>C	ENSP00000278823:p.Met625Arg		OREG0021027	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1060	MTA2_ENST00000527204.1_Missense_Mutation_p.M452R|MTA2_ENST00000524902.1_Missense_Mutation_p.M452R	p.M625R	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN			18	2263	-			625					Q68DB1|Q9UQB5	Missense_Mutation	SNP	ENST00000278823.2	37	c.1874T>G	CCDS8022.1	.	.	.	.	.	.	.	.	.	.	A	15.79	2.937420	0.52972	.	.	ENSG00000149480	ENST00000278823;ENST00000524902;ENST00000527204	T;T;T	0.43294	1.56;0.95;0.95	5.87	5.87	0.94306	.	0.119835	0.85682	D	0.000000	T	0.42743	0.1216	L	0.36672	1.1	0.80722	D	1	P	0.45531	0.86	P	0.49047	0.599	T	0.15578	-1.0432	10	0.25751	T	0.34	-30.7087	14.2368	0.65932	1.0:0.0:0.0:0.0	.	625	O94776	MTA2_HUMAN	R	625;452;452	ENSP00000278823:M625R;ENSP00000431346:M452R;ENSP00000431797:M452R	ENSP00000278823:M625R	M	-	2	0	MTA2	62118056	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.866000	0.87056	2.242000	0.73789	0.528000	0.53228	ATG		0.592	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395578.1	NM_004739		13	237	0	0	0	0.479597	0	13	237				
MCM9	254394	broad.mit.edu	37	6	119245149	119245149	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr6:119245149A>G	ENST00000316316.6	-	3	734	c.448T>C	c.(448-450)Tgc>Cgc	p.C150R	MCM9_ENST00000316068.3_Missense_Mutation_p.C150R	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	150					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)	MCM8-MCM9 complex (GO:0097362)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		ACATGCTTGCATTTGTTACAC	0.458																																						ENST00000316316.6																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(448-450)Tgc>Cgc		minichromosome maintenance complex component 9							243.0	234.0	237.0					6																	119245149		2203	4300	6503	SO:0001583	missense	254394				DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr6:119245149A>G	BC031658	CCDS5121.1, CCDS56447.1	6q22.31	2009-11-16	2007-04-04	2007-04-04	ENSG00000111877	ENSG00000111877			21484	protein-coding gene	gene with protein product		610098	"""minichromosome maintenance deficient domain containing 1"", ""chromosome 6 open reading frame 61"""	MCMDC1, C6orf61		16226853, 15850810, 16495042	Standard	NM_153255		Approved	MGC35304, dJ329L24.3, FLJ20170	uc021zeh.1	Q9NXL9	OTTHUMG00000015468	ENST00000316316.6:c.448T>C	6.37:g.119245149A>G	ENSP00000314505:p.Cys150Arg					MCM9_ENST00000316068.3_Missense_Mutation_p.C150R	p.C150R	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)	3	734	-		all_cancers(87;0.122)|all_epithelial(87;0.179)	150					B4DR30|B9DI77|Q2KHJ0|Q8N5S5|Q9HCV5	Missense_Mutation	SNP	ENST00000316316.6	37	c.448T>C	CCDS56447.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.021406	0.75275	.	.	ENSG00000111877	ENST00000316316;ENST00000316068;ENST00000425154	T;T;T	0.21543	2.0;2.0;2.0	5.78	5.78	0.91487	.	.	.	.	.	T	0.46833	0.1413	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.58047	-0.7705	9	0.87932	D	0	.	16.1146	0.81295	1.0:0.0:0.0:0.0	.	150	Q9NXL9-2	.	R	150	ENSP00000314505:C150R;ENSP00000312870:C150R;ENSP00000394776:C150R	ENSP00000312870:C150R	C	-	1	0	MCM9	119286848	1.000000	0.71417	1.000000	0.80357	0.723000	0.41478	8.962000	0.93254	2.200000	0.70718	0.460000	0.39030	TGC		0.458	MCM9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042005.4	NM_153255		27	350	0	0	0	0.681144	0	27	350				
MSRA	4482	broad.mit.edu	37	8	10285770	10285770	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr8:10285770A>G	ENST00000317173.4	+	6	905	c.656A>G	c.(655-657)tAc>tGc	p.Y219C	MSRA_ENST00000382490.5_Missense_Mutation_p.Y176C|MSRA_ENST00000441698.2_Missense_Mutation_p.Y179C|MSRA_ENST00000528246.1_Missense_Mutation_p.Y153C	NM_012331.3	NP_036463.1	Q9UJ68	MSRA_HUMAN	methionine sulfoxide reductase A	219					cellular protein modification process (GO:0006464)|methionine metabolic process (GO:0006555)|protein repair (GO:0030091)|response to oxidative stress (GO:0006979)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptide-methionine (S)-S-oxide reductase activity (GO:0008113)			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	CCCAATGGCTACTGCGGCCTT	0.542																																					NSCLC(88;1378 1469 30580 49103 52286)	ENST00000528246.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8						c.(457-459)tAc>tGc		methionine sulfoxide reductase A	L-Methionine(DB00134)						67.0	63.0	65.0					8																	10285770		2203	4300	6503	SO:0001583	missense	4482				methionine metabolic process|protein modification process|response to oxidative stress	mitochondrion|nucleus	peptide-methionine-(S)-S-oxide reductase activity	g.chr8:10285770A>G	BC054033	CCDS5975.1, CCDS47798.1, CCDS47799.1, CCDS56522.1	8p23.1	2009-07-10			ENSG00000175806	ENSG00000175806	1.8.4.11		7377	protein-coding gene	gene with protein product		601250				10452521	Standard	NM_012331		Approved		uc003wsx.3	Q9UJ68	OTTHUMG00000090517	ENST00000317173.4:c.656A>G	8.37:g.10285770A>G	ENSP00000313921:p.Tyr219Cys					MSRA_ENST00000382490.5_Missense_Mutation_p.Y176C|MSRA_ENST00000441698.2_Missense_Mutation_p.Y179C|MSRA_ENST00000317173.4_Missense_Mutation_p.Y219C	p.Y153C	NM_001199729.1	NP_001186658.1	Q9UJ68	MSRA_HUMAN			7	1081	+		Myeloproliferative disorder(644;0.178)	219					E9PAS8|Q52TC4|Q549N4|Q66MI7	Missense_Mutation	SNP	ENST00000317173.4	37	c.458A>G	CCDS5975.1	.	.	.	.	.	.	.	.	.	.	A	16.51	3.143735	0.57044	.	.	ENSG00000175806	ENST00000317173;ENST00000441698;ENST00000528246;ENST00000382490	.	.	.	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.84442	0.5473	M	0.90870	3.155	0.54753	D	0.999985	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.982;0.998	D	0.87721	0.2573	8	.	.	.	-21.3456	13.2653	0.60131	1.0:0.0:0.0:0.0	.	179;176;219	Q9UJ68-4;Q9UJ68-3;Q9UJ68	.;.;MSRA_HUMAN	C	219;179;153;176	.	.	Y	+	2	0	MSRA	10323180	1.000000	0.71417	0.979000	0.43373	0.246000	0.25737	8.607000	0.90891	1.979000	0.57680	0.533000	0.62120	TAC		0.542	MSRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207005.1	NM_012331		3	137	0	0	0	0.150653	0	3	137				
SCN10A	6336	broad.mit.edu	37	3	38797286	38797286	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr3:38797286C>T	ENST00000449082.2	-	10	1453	c.1454G>A	c.(1453-1455)cGc>cAc	p.R485H		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	485					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	taccatcctgcgctGGTTGTA	0.493																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(1453-1455)cGc>cAc		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						216.0	182.0	194.0					3																	38797286		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38797286C>T	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.1454G>A	3.37:g.38797286C>T	ENSP00000390600:p.Arg485His						p.R485H	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	10	1453	-			485					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.1454G>A	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.699323	0.48307	.	.	ENSG00000185313	ENST00000449082	D	0.95885	-3.84	5.77	2.98	0.34508	.	.	.	.	.	D	0.90738	0.7093	L	0.29908	0.895	0.29374	N	0.863791	B	0.12013	0.005	B	0.08055	0.003	D	0.84386	0.0552	9	0.52906	T	0.07	.	8.8378	0.35123	0.0:0.7592:0.0:0.2408	.	485	Q9Y5Y9	SCNAA_HUMAN	H	485	ENSP00000390600:R485H	ENSP00000390600:R485H	R	-	2	0	SCN10A	38772290	0.989000	0.36119	1.000000	0.80357	0.977000	0.68977	1.137000	0.31479	0.432000	0.26286	0.655000	0.94253	CGC		0.493	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		6	222	0	0	0	0.217242	0	6	222				
DUSP13	51207	broad.mit.edu	37	10	76855494	76855494	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr10:76855494G>A	ENST00000472493.2	-	3	311	c.233C>T	c.(232-234)gCc>gTc	p.A78V	DUSP13_ENST00000464872.1_Missense_Mutation_p.A78V|DUSP13_ENST00000478873.2_Missense_Mutation_p.A214V|DUSP13_ENST00000372700.3_Missense_Mutation_p.A128V|DUSP13_ENST00000491677.2_Missense_Mutation_p.A207V|DUSP13_ENST00000607131.1_Missense_Mutation_p.A171V|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000605915.1_Missense_Mutation_p.A100V|DUSP13_ENST00000607009.1_5'Flank	NM_016364.3	NP_057448.3	Q9UII6	DS13B_HUMAN	dual specificity phosphatase 13	78					meiotic nuclear division (GO:0007126)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GCCTGCAGCGGCATTCACAAC	0.577																																					NSCLC(174;1655 2059 12324 40663 42963)	ENST00000491677.2																			0				large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8						c.(619-621)gCc>gTc		dual specificity phosphatase 13							205.0	181.0	189.0					10																	76855494		2203	4300	6503	SO:0001583	missense	0					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:76855494G>A	AB027004	CCDS7346.1, CCDS31224.1, CCDS53542.1	10q23.1	2013-10-25			ENSG00000079393	ENSG00000079393		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	19681	protein-coding gene	gene with protein product		613191				10585869	Standard	XM_005269883		Approved	BEDP, TMDP, FLJ32450, DUSP13A, DUSP13B	uc001jwu.3	Q6B8I1	OTTHUMG00000018516	ENST00000472493.2:c.233C>T	10.37:g.76855494G>A	ENSP00000444580:p.Ala78Val					DUSP13_ENST00000607131.1_Missense_Mutation_p.A171V|DUSP13_ENST00000464872.1_Missense_Mutation_p.A78V|DUSP13_ENST00000472493.2_Missense_Mutation_p.A78V|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000372700.3_Missense_Mutation_p.A128V|DUSP13_ENST00000478873.2_Missense_Mutation_p.A214V|DUSP13_ENST00000605915.1_Missense_Mutation_p.A100V	p.A207V	NM_001007271.1	NP_001007272.1	Q6B8I1	MDSP_HUMAN			7	1162	-	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		70					A8K776|A8K782|B3KPY1|B3KXT0|B4DUK0|Q5JSC6|Q6IAR0|Q96GC2	Missense_Mutation	SNP	ENST00000472493.2	37	c.620C>T	CCDS7346.1	.	.	.	.	.	.	.	.	.	.	G	8.989	0.977271	0.18812	.	.	ENSG00000079393	ENST00000308475;ENST00000472493;ENST00000491677;ENST00000372698;ENST00000464872;ENST00000372700	T;T;T;T;T	0.60548	0.42;0.42;0.42;0.18;0.42	5.11	-2.7	0.06004	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.348638	0.33235	N	0.005130	T	0.30947	0.0781	N	0.13198	0.31	0.31631	N	0.648985	B;P;P	0.41265	0.342;0.678;0.744	B;B;B	0.36534	0.092;0.137;0.227	T	0.48198	-0.9056	10	0.14656	T	0.56	-2.9419	12.3709	0.55254	0.2733:0.0:0.7267:0.0	.	128;207;78	Q9UII6-4;F2Z2C4;Q9UII6	.;.;DUS13_HUMAN	V	78;78;207;171;78;128	ENSP00000311051:A78V;ENSP00000444580:A78V;ENSP00000436312:A207V;ENSP00000434041:A78V;ENSP00000361785:A128V	ENSP00000311051:A78V	A	-	2	0	DUSP13	76525500	0.981000	0.34729	0.126000	0.21872	0.401000	0.30781	2.524000	0.45589	-0.319000	0.08652	-0.150000	0.13652	GCC		0.577	DUSP13-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048786.3			5	307	0	0	0	0.184627	0	5	307				
CDH19	28513	broad.mit.edu	37	18	64172539	64172539	+	Splice_Site	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr18:64172539C>T	ENST00000540086.1	-	10	1705	c.1459G>A	c.(1459-1461)Ggt>Agt	p.G487S	CDH19_ENST00000262150.2_Splice_Site_p.G610E	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	2500	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				AAAAATAAACCCTGATGAAGA	0.303																																						ENST00000262150.2																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61						c.e12-1		cadherin 19, type 2							35.0	42.0	40.0					18																	64172539		2182	4169	6351	SO:0001630	splice_region_variant	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64172539C>T	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.1459-1G>A	18.37:g.64172539C>T						CDH19_ENST00000540086.1_Splice_Site_p.G487_splice	p.G610_splice	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN			12	2121	-		Esophageal squamous(42;0.0132)	610					O15098	Splice_Site	SNP	ENST00000540086.1	37	c.1828_splice	CCDS59325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	10.57|10.57	1.388394|1.388394	0.25118|0.25118	.|.	.|.	ENSG00000071991|ENSG00000071991	ENST00000262150|ENST00000540086	T|T	0.57107|0.53640	0.42|0.61	5.19|5.19	4.19|4.19	0.49359|0.49359	.|.	0.397846|0.397846	0.24975|0.24975	N|N	0.034118|0.034118	T|T	0.39655|0.39655	0.1086|0.1086	L|L	0.47716|0.47716	1.5|1.5	0.28793|0.28793	N|N	0.899185|0.899185	P|B	0.51351|0.21520	0.944|0.057	P|B	0.47346|0.19391	0.544|0.025	T|T	0.28170|0.28170	-1.0052|-1.0052	10|10	0.87932|0.39692	D|T	0|0.17	.|.	10.8933|10.8933	0.47008|0.47008	0.408:0.592:0.0:0.0|0.408:0.592:0.0:0.0	.|.	610|487	Q9H159|F5H1K0	CAD19_HUMAN|.	E|S	610|487	ENSP00000262150:G610E|ENSP00000439593:G487S	ENSP00000262150:G610E|ENSP00000439593:G487S	G|G	-|-	2|1	0|0	CDH19|CDH19	62323519|62323519	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.777000|0.777000	0.43975|0.43975	4.722000|4.722000	0.61958|0.61958	2.569000|2.569000	0.86673|0.86673	0.655000|0.655000	0.94253|0.94253	GGG|GGT		0.303	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000442285.1	NM_021153	Missense_Mutation	10	165	0	0	0	0.335167	0	10	165				
DNAJC13	23317	broad.mit.edu	37	3	132222140	132222140	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr3:132222140C>A	ENST00000260818.6	+	41	5047	c.4799C>A	c.(4798-4800)cCa>cAa	p.P1600Q		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1600					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						CAAGCAACTCCAGAAAATCCA	0.448																																						ENST00000260818.6																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						c.(4798-4800)cCa>cAa		DnaJ (Hsp40) homolog, subfamily C, member 13							98.0	96.0	97.0					3																	132222140		2203	4300	6503	SO:0001583	missense	23317						heat shock protein binding	g.chr3:132222140C>A	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.4799C>A	3.37:g.132222140C>A	ENSP00000260818:p.Pro1600Gln						p.P1600Q	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN			41	5047	+			1600					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	c.4799C>A	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.984743	0.93044	.	.	ENSG00000138246	ENST00000260818;ENST00000538066	T	0.20881	2.04	5.73	5.73	0.89815	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.55497	0.1924	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.61038	-0.7143	10	0.72032	D	0.01	.	19.8994	0.96980	0.0:1.0:0.0:0.0	.	1600	O75165	DJC13_HUMAN	Q	1600;247	ENSP00000260818:P1600Q	ENSP00000260818:P1600Q	P	+	2	0	DNAJC13	133704830	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.383000	0.79741	2.703000	0.92315	0.650000	0.86243	CCA		0.448	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		4	117	1	0	0.150653	0.150653	0.15668	4	117				
TMEM109	79073	broad.mit.edu	37	11	60687346	60687346	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr11:60687346G>C	ENST00000227525.3	+	2	584	c.181G>C	c.(181-183)Gtg>Ctg	p.V61L	TMEM109_ENST00000536171.1_Missense_Mutation_p.V61L|RP11-881M11.4_ENST00000543907.1_RNA	NM_024092.2	NP_076997.1	Q9BVC6	TM109_HUMAN	transmembrane protein 109	61					cellular response to gamma radiation (GO:0071480)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell death (GO:0060548)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						AGGTCGATCTGTGCGAGGGAC	0.542																																						ENST00000227525.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						c.(181-183)Gtg>Ctg		transmembrane protein 109							127.0	117.0	121.0					11																	60687346		2203	4299	6502	SO:0001583	missense	79073					integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane		g.chr11:60687346G>C		CCDS7996.1	11q12.2	2005-12-22				ENSG00000110108			28771	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_024092		Approved	MGC5508	uc001nqg.3	Q9BVC6		ENST00000227525.3:c.181G>C	11.37:g.60687346G>C	ENSP00000227525:p.Val61Leu					TMEM109_ENST00000536171.1_Missense_Mutation_p.V61L|RP11-881M11.4_ENST00000543907.1_RNA	p.V61L	NM_024092.2	NP_076997.1	Q9BVC6	TM109_HUMAN			2	584	+			61						Missense_Mutation	SNP	ENST00000227525.3	37	c.181G>C	CCDS7996.1	.	.	.	.	.	.	.	.	.	.	G	2.276	-0.365892	0.05069	.	.	ENSG00000110108	ENST00000227525;ENST00000446886;ENST00000536171	.	.	.	5.34	-1.98	0.07480	.	1.084920	0.07213	N	0.859576	T	0.22085	0.0532	N	0.16478	0.41	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23084	-1.0198	9	0.18276	T	0.48	-28.2001	5.4718	0.16674	0.1647:0.5571:0.1757:0.1026	.	61	Q9BVC6	TM109_HUMAN	L	61	.	ENSP00000227525:V61L	V	+	1	0	TMEM109	60443922	0.000000	0.05858	0.016000	0.15963	0.066000	0.16364	-0.922000	0.04004	-0.301000	0.08882	0.563000	0.77884	GTG		0.542	TMEM109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396343.1	NM_024092		13	247	0	0	0	0.520397	0	13	247				
APOBR	55911	broad.mit.edu	37	16	28507468	28507468	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr16:28507468G>A	ENST00000431282.1	+	3	1089	c.1079G>A	c.(1078-1080)gGg>gAg	p.G360E	CLN3_ENST00000567160.1_5'Flank|APOBR_ENST00000564831.1_Missense_Mutation_p.G369E|APOBR_ENST00000328423.5_Missense_Mutation_p.G360E|CLN3_ENST00000569430.1_5'Flank			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	360	Glu-rich.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)	p.G360E(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GCCTCAGGAGGGGACGAGGCC	0.657																																						ENST00000564831.1																			1	Substitution - Missense(1)	p.G360E(1)	skin(1)	breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						c.(1105-1107)gGg>gAg		apolipoprotein B receptor							18.0	21.0	20.0					16																	28507468		1968	4120	6088	SO:0001583	missense	55911				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle		g.chr16:28507468G>A	AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"""apolipoprotein B48 receptor"", ""apolipoprotein B100 receptor"""	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.1079G>A	16.37:g.28507468G>A	ENSP00000416094:p.Gly360Glu					APOBR_ENST00000328423.5_Missense_Mutation_p.G360E|APOBR_ENST00000431282.1_Missense_Mutation_p.G360E	p.G369E	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN			2	1139	+			360			Glu-rich.		H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Missense_Mutation	SNP	ENST00000431282.1	37	c.1106G>A		.	.	.	.	.	.	.	.	.	.	G	0.325	-0.959425	0.02267	.	.	ENSG00000184730	ENST00000328423;ENST00000431282	T;T	0.59502	0.26;0.26	4.59	-6.8	0.01709	.	.	.	.	.	T	0.23846	0.0577	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37619	-0.9698	9	0.02654	T	1	0.0909	0.7543	0.00996	0.3637:0.2788:0.1446:0.2128	.	360	Q9NS13	.	E	360	ENSP00000327669:G360E;ENSP00000416094:G360E	ENSP00000327669:G360E	G	+	2	0	APOBR	28414969	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.048000	0.11944	-0.650000	0.05423	-0.373000	0.07131	GGG		0.657	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_182804		16	13	0	0	0	0.500413	0	16	13				
GRM7	2917	broad.mit.edu	37	3	7188209	7188209	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr3:7188209G>A	ENST00000357716.4	+	2	864	c.590G>A	c.(589-591)cGc>cAc	p.R197H	GRM7_ENST00000389336.4_Missense_Mutation_p.R197H|GRM7_ENST00000403881.1_Missense_Mutation_p.R197H|GRM7_ENST00000402647.2_Missense_Mutation_p.R197H|GRM7_ENST00000486284.1_Missense_Mutation_p.R197H	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	197					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						TTCTTCTCTCGCGTGGTGCCA	0.522																																						ENST00000486284.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						c.(589-591)cGc>cAc		glutamate receptor, metabotropic 7	L-Glutamic Acid(DB00142)						129.0	115.0	119.0					3																	7188209		2203	4300	6503	SO:0001583	missense	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7188209G>A	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.590G>A	3.37:g.7188209G>A	ENSP00000350348:p.Arg197His					GRM7_ENST00000357716.4_Missense_Mutation_p.R197H|GRM7_ENST00000389336.4_Missense_Mutation_p.R197H|GRM7_ENST00000403881.1_Missense_Mutation_p.R197H|GRM7_ENST00000402647.2_Missense_Mutation_p.R197H	p.R197H	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN			2	864	+			197					Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	c.590G>A	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.508291	0.85282	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D	0.91295	-2.82;-2.82;-2.82;-2.82;-2.82	5.87	5.87	0.94306	Extracellular ligand-binding receptor (1);	0.123598	0.53938	D	0.000052	D	0.97145	0.9067	H	0.96269	3.795	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.994;0.995;0.999	D	0.97669	1.0165	10	0.87932	D	0	.	19.1458	0.93467	0.0:0.0:1.0:0.0	.	197;197;197	Q14831-5;Q14831;Q14831-2	.;GRM7_HUMAN;.	H	197	ENSP00000350348:R197H;ENSP00000417536:R197H;ENSP00000373987:R197H;ENSP00000385664:R197H;ENSP00000384585:R197H	ENSP00000350348:R197H	R	+	2	0	GRM7	7163209	1.000000	0.71417	0.307000	0.25127	0.308000	0.27856	9.813000	0.99286	2.941000	0.99782	0.655000	0.94253	CGC		0.522	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		34	174	0	0	0	0.796494	0	34	174				
POTEC	388468	broad.mit.edu	37	18	14513734	14513734	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr18:14513734C>T	ENST00000358970.5	-	10	1459	c.1460G>A	c.(1459-1461)gGa>gAa	p.G487E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	487								p.G487E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TTGTGATATTCCAGTGTTCTG	0.323																																						ENST00000358970.5																			2	Substitution - Missense(2)	p.G487E(2)	lung(1)|endometrium(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1459-1461)gGa>gAa		POTE ankyrin domain family, member C							15.0	16.0	16.0					18																	14513734		681	1554	2235	SO:0001583	missense	388468							g.chr18:14513734C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1460G>A	18.37:g.14513734C>T	ENSP00000351856:p.Gly487Glu						p.G487E	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1459	-			487						Missense_Mutation	SNP	ENST00000358970.5	37	c.1460G>A	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-2.006144	0.00426	.	.	ENSG00000183206	ENST00000358970	T	0.27104	1.69	1.38	1.38	0.22167	.	.	.	.	.	T	0.18551	0.0445	L	0.44542	1.39	0.09310	N	1	P	0.50443	0.935	B	0.39094	0.29	T	0.16247	-1.0409	9	0.66056	D	0.02	.	6.1352	0.20227	0.0:1.0:0.0:0.0	.	487	B2RU33	POTEC_HUMAN	E	487	ENSP00000351856:G487E	ENSP00000351856:G487E	G	-	2	0	POTEC	14503734	0.983000	0.35010	0.019000	0.16419	0.011000	0.07611	2.828000	0.48120	1.049000	0.40321	0.205000	0.17691	GGA		0.323	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		4	133	0	0	0	0.184627	0	4	133				
HMGN2	3151	broad.mit.edu	37	1	26800580	26800580	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr1:26800580C>A	ENST00000361427.5	+	4	189	c.95C>A	c.(94-96)cCt>cAt	p.P32H	HMGN2_ENST00000493418.1_3'UTR	NM_005517.3	NP_005508.1	P05204	HMGN2_HUMAN	high mobility group nucleosomal binding domain 2	32						chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|lung(2)	3		all_cancers(24;1.9e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.38e-49)|OV - Ovarian serous cystadenocarcinoma(117;5.38e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.026)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		AAAAAGAAACCTGCTCCTCCA	0.443																																						ENST00000361427.5																			0				breast(1)|lung(2)	3						c.(94-96)cCt>cAt		high mobility group nucleosomal binding domain 2							84.0	85.0	85.0					1																	26800580		2203	4300	6503	SO:0001583	missense	3151				chromatin organization|regulation of transcription, DNA-dependent	chromatin|cytoplasm|nucleus	DNA binding|protein binding	g.chr1:26800580C>A	BC081567	CCDS283.1	1p36.1	2011-07-01	2011-04-05	2002-08-16	ENSG00000198830	ENSG00000198830		"""High-mobility group / Canonical"""	4986	protein-coding gene	gene with protein product		163910	"""high-mobility group (nonhistone chromosomal) protein 17"", ""high-mobility group nucleosomal binding domain 2"""	HMG17		2037294	Standard	NM_005517		Approved		uc001bmp.4	P05204	OTTHUMG00000003555	ENST00000361427.5:c.95C>A	1.37:g.26800580C>A	ENSP00000355228:p.Pro32His					HMGN2_ENST00000493418.1_3'UTR	p.P32H	NM_005517.3	NP_005508.1	P05204	HMGN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.38e-49)|OV - Ovarian serous cystadenocarcinoma(117;5.38e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.026)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)	4	189	+		all_cancers(24;1.9e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	32					Q0VGD5|Q6FGI5|Q96C64	Missense_Mutation	SNP	ENST00000361427.5	37	c.95C>A	CCDS283.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.778475	0.90195	.	.	ENSG00000198830	ENST00000361427	.	.	.	5.27	5.27	0.74061	.	0.258401	0.24007	U	0.042416	T	0.72843	0.3511	.	.	.	0.48632	D	0.999686	P	0.44309	0.832	P	0.51453	0.67	T	0.75584	-0.3267	8	0.72032	D	0.01	.	18.2451	0.89982	0.0:1.0:0.0:0.0	.	32	P05204	HMGN2_HUMAN	H	32	.	ENSP00000355228:P32H	P	+	2	0	HMGN2	26673167	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.497000	0.66924	2.633000	0.89246	0.563000	0.77884	CCT		0.443	HMGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009901.1	NM_005517		3	69	1	0	0.150653	0.150653	0.15668	3	69				
KRTAP10-11	386678	broad.mit.edu	37	21	46066417	46066417	+	Silent	SNP	C	C	T	rs199741274	byFrequency	TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr21:46066417C>T	ENST00000334670.8	+	1	87	c.42C>T	c.(40-42)tcC>tcT	p.S14S	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60412	KR10B_HUMAN	keratin associated protein 10-11	14						keratin filament (GO:0045095)				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						GCGCTTACTCCGACTCCTGGC	0.672													C|||	2	0.000399361	0.0	0.0	5008	,	,		14588	0.001		0.001	False		,,,				2504	0.0					ENST00000334670.8																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						c.(40-42)tcC>tcT		keratin associated protein 10-11							65.0	70.0	68.0					21																	46066417		2201	4297	6498	SO:0001819	synonymous_variant	386678					keratin filament		g.chr21:46066417C>T	AB076359	CCDS42962.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000243489	ENSG00000243489		"""Keratin associated proteins"""	20528	protein-coding gene	gene with protein product			"""keratin associated protein 10-11"""	KRTAP18-11			Standard	NM_198692		Approved	KRTAP18.11, KAP18.11, KAP10.11	uc002zfr.4	P60412	OTTHUMG00000057626	ENST00000334670.8:c.42C>T	21.37:g.46066417C>T						TSPEAR_ENST00000323084.4_Intron	p.S14S	NM_198692.2	NP_941965.2	P60411	KR109_HUMAN			1	87	+			14					A2RRF9	Silent	SNP	ENST00000334670.8	37	c.42C>T	CCDS42962.1																																																																																				0.672	KRTAP10-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128029.1	NM_198692		5	129	0	0	0	0.278610	0	5	129				
ODF2L	57489	broad.mit.edu	37	1	86820356	86820356	+	Missense_Mutation	SNP	C	C	A	rs370305366		TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr1:86820356C>A	ENST00000359242.3	-	16	1905	c.1624G>T	c.(1624-1626)Gca>Tca	p.A542S	ODF2L_ENST00000370566.3_Missense_Mutation_p.A460S|ODF2L_ENST00000394731.1_Missense_Mutation_p.A382S|ODF2L_ENST00000524695.1_5'Flank|ODF2L_ENST00000317336.7_Missense_Mutation_p.A542S|ODF2L_ENST00000294678.2_Missense_Mutation_p.A526S|ODF2L_ENST00000370567.1_Missense_Mutation_p.A513S	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	542						centrosome (GO:0005813)				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		TTATTTTCTGCGTCCATCTGT	0.313																																						ENST00000359242.3																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24						c.(1624-1626)Gca>Tca		outer dense fiber of sperm tails 2-like							106.0	103.0	104.0					1																	86820356		2202	4300	6502	SO:0001583	missense	57489					centrosome		g.chr1:86820356C>A		CCDS30763.1, CCDS41354.1, CCDS30763.2, CCDS41354.2, CCDS53339.1	1p22.3	2008-02-05			ENSG00000122417	ENSG00000122417			29225	protein-coding gene	gene with protein product						10574462	Standard	NM_020729		Approved	KIAA1229	uc001dll.2	Q9ULJ1	OTTHUMG00000010080	ENST00000359242.3:c.1624G>T	1.37:g.86820356C>A	ENSP00000359600:p.Ala542Ser					ODF2L_ENST00000370566.3_Missense_Mutation_p.A460S|ODF2L_ENST00000294678.2_Missense_Mutation_p.A526S|ODF2L_ENST00000370567.1_Missense_Mutation_p.A513S|ODF2L_ENST00000317336.7_Missense_Mutation_p.A542S|ODF2L_ENST00000394731.1_Missense_Mutation_p.A382S	p.A542S	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN		all cancers(265;0.0313)|Epithelial(280;0.0611)	16	1905	-			542					A8MU56|B4E037|Q05C40|Q5BJG5|Q5TBX3|Q5TBX4|Q86X31	Missense_Mutation	SNP	ENST00000359242.3	37	c.1624G>T	CCDS41354.2	.	.	.	.	.	.	.	.	.	.	C	6.478	0.456348	0.12283	.	.	ENSG00000122417	ENST00000441121;ENST00000370566;ENST00000359242;ENST00000460698;ENST00000317336;ENST00000370567;ENST00000394731;ENST00000462648;ENST00000294678	T;T;T;T;T;T;T;T	0.77877	1.88;1.87;-1.13;1.88;1.89;1.89;0.87;1.88	6.17	3.31	0.37934	.	0.636695	0.17191	N	0.183505	T	0.50257	0.1605	L	0.54323	1.7	0.22521	N	0.999029	B;B;B;B;B	0.18863	0.002;0.0;0.005;0.031;0.009	B;B;B;B;B	0.29663	0.005;0.005;0.01;0.105;0.039	T	0.43048	-0.9415	10	0.15499	T	0.54	-1.4517	6.4263	0.21772	0.2379:0.5675:0.0:0.1946	.	460;489;513;526;542	B4E037;Q9ULJ1-2;Q9ULJ1-4;Q9ULJ1-3;Q9ULJ1	.;.;.;.;ODF2L_HUMAN	S	490;460;542;389;542;513;382;49;526	ENSP00000359597:A460S;ENSP00000359600:A542S;ENSP00000433092:A389S;ENSP00000320165:A542S;ENSP00000359598:A513S;ENSP00000378219:A382S;ENSP00000437043:A49S;ENSP00000294678:A526S	ENSP00000294678:A526S	A	-	1	0	ODF2L	86592944	0.082000	0.21442	0.998000	0.56505	0.855000	0.48748	0.050000	0.14120	0.199000	0.20427	-1.854000	0.00565	GCA		0.313	ODF2L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027873.2			3	190	1	0	0.115264	0.115264	0.123159	3	190				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs201948955		TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr21:14414855A>G	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		GCCAATGGCCATGCAGAAGTA	0.448																																						ENST00000507941.1																			0																																																			0							g.chr21:14414855A>G	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.14414855A>G														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.448	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		4	84	0	0	0	0.248553	0	4	84				
GRIN2C	2905	broad.mit.edu	37	17	72851092	72851092	+	Missense_Mutation	SNP	C	C	A	rs142837005	byFrequency	TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr17:72851092C>A	ENST00000293190.5	-	2	286	c.140G>T	c.(139-141)cGt>cTt	p.R47L	GRIN2C_ENST00000578159.1_Intron|GRIN2C_ENST00000347612.4_Missense_Mutation_p.R47L	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	47					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)	GAGGCGGGCACGGAACTGGGC	0.687																																						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.(139-141)cGt>cTt		glutamate receptor, ionotropic, N-methyl D-aspartate 2C	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)						31.0	34.0	33.0					17																	72851092		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.chr17:72851092C>A		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.140G>T	17.37:g.72851092C>A	ENSP00000293190:p.Arg47Leu					GRIN2C_ENST00000347612.4_Missense_Mutation_p.R47L|GRIN2C_ENST00000578159.1_Intron	p.R47L	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN			2	286	-	all_lung(278;0.172)|Lung NSC(278;0.207)		47					B2RTT1	Missense_Mutation	SNP	ENST00000293190.5	37	c.140G>T	CCDS32724.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.791557	0.31685	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	T	0.11821	2.74	4.49	3.52	0.40303	.	0.365820	0.28859	N	0.013901	T	0.12774	0.0310	L	0.54323	1.7	0.29128	N	0.879832	P;P;B	0.38370	0.628;0.548;0.133	B;B;B	0.35470	0.203;0.137;0.032	T	0.10132	-1.0643	10	0.72032	D	0.01	.	7.7016	0.28625	0.1611:0.7558:0.0:0.0831	.	47;81;47	Q6PCC5;Q8IW23;Q14957	.;.;NMDE3_HUMAN	L	47;81	ENSP00000293190:R47L	ENSP00000293190:R47L	R	-	2	0	GRIN2C	70362687	0.698000	0.27777	0.324000	0.25361	0.957000	0.61999	1.803000	0.38863	1.108000	0.41662	0.557000	0.71058	CGT		0.687	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1			5	66	1	0	1.23904e-05	0.184627	1.42125e-05	5	66				
MICALL1	85377	broad.mit.edu	37	22	38323471	38323471	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr22:38323471C>T	ENST00000215957.6	+	9	1645	c.1519C>T	c.(1519-1521)Cca>Tca	p.P507S	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	507	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					CACACCATCGCCAGCGCTCAG	0.677																																						ENST00000215957.6																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24						c.(1519-1521)Cca>Tca		MICAL-like 1							38.0	36.0	37.0					22																	38323471		2203	4300	6503	SO:0001583	missense	85377					cytoplasm|cytoskeleton	protein binding|zinc ion binding	g.chr22:38323471C>T	BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"""molecule interacting with Rab13"""					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.1519C>T	22.37:g.38323471C>T	ENSP00000215957:p.Pro507Ser					MICALL1_ENST00000402631.1_3'UTR	p.P507S	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN			9	1645	+	Melanoma(58;0.045)		507			Pro-rich.		Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Missense_Mutation	SNP	ENST00000215957.6	37	c.1519C>T	CCDS13961.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.61|16.61	3.171917|3.171917	0.57584|0.57584	.|.	.|.	ENSG00000100139|ENSG00000100139	ENST00000454685|ENST00000215957	.|T	.|0.56941	.|0.43	4.92|4.92	4.92|4.92	0.64577|0.64577	.|.	.|0.236569	.|0.30302	.|N	.|0.009937	T|T	0.72503|0.72503	0.3468|0.3468	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.83275	.|0.996	T|T	0.75379|0.75379	-0.3338|-0.3338	5|10	.|0.56958	.|D	.|0.05	.|.	18.171|18.171	0.89745|0.89745	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|507	.|Q8N3F8	.|MILK1_HUMAN	V|S	84|507	.|ENSP00000215957:P507S	.|ENSP00000215957:P507S	A|P	+|+	2|1	0|0	MICALL1|MICALL1	36653417|36653417	0.997000|0.997000	0.39634|0.39634	0.991000|0.991000	0.47740|0.47740	0.085000|0.085000	0.17905|0.17905	5.650000|5.650000	0.67944|0.67944	2.251000|2.251000	0.74343|0.74343	0.555000|0.555000	0.69702|0.69702	GCC|CCA		0.677	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4	NM_033386		44	44	0	0	0	0.847076	0	44	44				
GPR116	221395	broad.mit.edu	37	6	46826878	46826878	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr6:46826878C>T	ENST00000283296.7	-	17	3050	c.2762G>A	c.(2761-2763)aGc>aAc	p.S921N	GPR116_ENST00000545669.1_Missense_Mutation_p.S350N|GPR116_ENST00000265417.7_Missense_Mutation_p.S921N|GPR116_ENST00000456426.2_Missense_Mutation_p.S779N|GPR116_ENST00000362015.4_Missense_Mutation_p.S921N	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	921					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CATCACTAAGCTCTCTGCAAA	0.448																																					NSCLC(59;410 1274 8751 36715 50546)	ENST00000283296.7																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(2761-2763)aGc>aAc		G protein-coupled receptor 116							122.0	111.0	115.0					6																	46826878		2203	4300	6503	SO:0001583	missense	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46826878C>T	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.2762G>A	6.37:g.46826878C>T	ENSP00000283296:p.Ser921Asn					GPR116_ENST00000545669.1_Missense_Mutation_p.S350N|GPR116_ENST00000265417.7_Missense_Mutation_p.S921N|GPR116_ENST00000362015.4_Missense_Mutation_p.S921N|GPR116_ENST00000456426.2_Missense_Mutation_p.S779N	p.S921N	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		17	3050	-			921					O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	c.2762G>A	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.483104	0.26598	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000545557;ENST00000265417;ENST00000545669	T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58	5.32	4.45	0.53987	.	0.247626	0.36002	N	0.002854	T	0.54159	0.1841	L	0.60455	1.87	0.37696	D	0.924049	P;P;D;P;D	0.57899	0.911;0.563;0.981;0.928;0.981	P;B;P;P;P	0.58454	0.466;0.334;0.723;0.839;0.723	T	0.61212	-0.7108	10	0.59425	D	0.04	-17.7973	14.1221	0.65195	0.0:0.9274:0.0:0.0726	.	350;476;921;779;921	F5GWK9;B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;.;GP116_HUMAN	N	921;921;921;779;292;921;350	ENSP00000283296:S921N;ENSP00000354563:S921N;ENSP00000412866:S779N;ENSP00000265417:S921N;ENSP00000441581:S350N	ENSP00000265417:S921N	S	-	2	0	GPR116	46934837	0.814000	0.29104	0.689000	0.30133	0.033000	0.12548	3.741000	0.55090	1.239000	0.43787	-0.300000	0.09419	AGC		0.448	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		42	192	0	0	0	0.870114	0	42	192				
SCRN1	9805	broad.mit.edu	37	7	29963705	29963705	+	Silent	SNP	G	G	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr7:29963705G>A	ENST00000426154.1	-	8	1289	c.1113C>T	c.(1111-1113)acC>acT	p.T371T	SCRN1_ENST00000434476.2_Silent_p.T391T|SCRN1_ENST00000242059.5_Silent_p.T371T|SCRN1_ENST00000425819.2_Silent_p.T303T|SCRN1_ENST00000409497.1_Silent_p.T371T|SCRN1_ENST00000416113.2_Silent_p.T197T	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	371					exocytosis (GO:0006887)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	dipeptidase activity (GO:0016805)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						GCTCCAGCATGGTGCTCCTCA	0.557																																						ENST00000426154.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						c.(1111-1113)acC>acT		secernin 1							79.0	72.0	74.0					7																	29963705		2203	4300	6503	SO:0001819	synonymous_variant	9805				exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity	g.chr7:29963705G>A	D83777	CCDS5422.1, CCDS47567.1, CCDS47568.1	7p14.3-p14.1	2006-09-06			ENSG00000136193	ENSG00000136193			22192	protein-coding gene	gene with protein product		614965				12221138	Standard	NM_014766		Approved	KIAA0193	uc011kaa.2	Q12765	OTTHUMG00000097093	ENST00000426154.1:c.1113C>T	7.37:g.29963705G>A						SCRN1_ENST00000242059.5_Silent_p.T371T|SCRN1_ENST00000409497.1_Silent_p.T371T|SCRN1_ENST00000416113.2_Silent_p.T197T	p.T371T	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN			8	1289	-			371					A8K0E9|B4DHM0|B4DIP5|C9JPG0|Q25QX7|Q8IWD1	Silent	SNP	ENST00000426154.1	37	c.1113C>T	CCDS5422.1																																																																																				0.557	SCRN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214231.2	NM_014766		17	150	0	0	0	0.520397	0	17	150				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_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			45	92	0	0	0	0.870114	0	45	92				
DOHH	83475	broad.mit.edu	37	19	3492382	3492382	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr19:3492382C>T	ENST00000427575.1	-	4	918	c.467G>A	c.(466-468)cGt>cAt	p.R156H	DOHH_ENST00000250937.3_Missense_Mutation_p.R156H	NM_001145165.1	NP_001138637.1			deoxyhypusine hydroxylase/monooxygenase											central_nervous_system(1)|large_intestine(1)|lung(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCACGTCACGCTCCTCAGC	0.746																																						ENST00000427575.1																			0				central_nervous_system(1)|large_intestine(1)|lung(1)	3						c.(466-468)cGt>cAt		deoxyhypusine hydroxylase/monooxygenase							3.0	4.0	3.0					19																	3492382		1788	3638	5426	SO:0001583	missense	83475				peptidyl-lysine modification to hypusine|post-translational protein modification	cytosol	deoxyhypusine monooxygenase activity|metal ion binding|protein binding	g.chr19:3492382C>T	BC002817	CCDS12108.1	19p13.3	2008-02-05	2006-05-22	2006-05-22		ENSG00000129932			28662	protein-coding gene	gene with protein product		611262	"""HEAT-like (PBS lyase) repeat containing 1"""	HLRC1		16371467, 16533814	Standard	NM_031304		Approved	MGC4293	uc002lxs.3	Q9BU89		ENST00000427575.1:c.467G>A	19.37:g.3492382C>T	ENSP00000398882:p.Arg156His					DOHH_ENST00000250937.3_Missense_Mutation_p.R156H	p.R156H	NM_001145165.1	NP_001138637.1	Q9BU89	DOHH_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	4	918	-			156						Missense_Mutation	SNP	ENST00000427575.1	37	c.467G>A	CCDS12108.1	.	.	.	.	.	.	.	.	.	.	C	8.487	0.861158	0.17178	.	.	ENSG00000129932	ENST00000427575;ENST00000250937	.	.	.	4.26	-1.43	0.08884	Armadillo-like helical (1);Armadillo-type fold (1);	0.710938	0.12413	N	0.471087	T	0.32645	0.0836	L	0.54323	1.7	0.09310	N	1	B	0.31209	0.313	B	0.30029	0.11	T	0.22591	-1.0212	9	0.42905	T	0.14	-2.2304	6.8781	0.24158	0.0:0.3809:0.0:0.6191	.	156	Q9BU89	DOHH_HUMAN	H	156	.	ENSP00000250937:R156H	R	-	2	0	DOHH	3443382	0.002000	0.14202	0.014000	0.15608	0.143000	0.21401	-0.057000	0.11768	-0.083000	0.12618	0.491000	0.48974	CGT		0.746	DOHH-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452932.1	NM_031304		3	3	0	0	0	0.150653	0	3	3				
CLIP4	79745	broad.mit.edu	37	2	29356592	29356592	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr2:29356592C>T	ENST00000320081.5	+	5	694	c.439C>T	c.(439-441)Cgc>Tgc	p.R147C	CLIP4_ENST00000404424.1_Missense_Mutation_p.R147C|CLIP4_ENST00000401617.2_Missense_Mutation_p.R40C|CLIP4_ENST00000401605.1_Missense_Mutation_p.R147C	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	147								p.R147C(1)		endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TTTGCGGAGTCGCTGGACAAA	0.368																																						ENST00000320081.5																			1	Substitution - Missense(1)	p.R147C(1)	large_intestine(1)	endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26						c.(439-441)Cgc>Tgc		CAP-GLY domain containing linker protein family, member 4							126.0	118.0	121.0					2																	29356592		2203	4300	6503	SO:0001583	missense	79745							g.chr2:29356592C>T	AK024722	CCDS1770.1, CCDS74502.1	2p23	2013-01-10	2007-01-04	2007-01-04	ENSG00000115295	ENSG00000115295		"""Ankyrin repeat domain containing"""	26108	protein-coding gene	gene with protein product			"""restin-like 2"""	RSNL2			Standard	XM_005264562		Approved	FLJ21069	uc002rmv.3	Q8N3C7	OTTHUMG00000097837	ENST00000320081.5:c.439C>T	2.37:g.29356592C>T	ENSP00000327009:p.Arg147Cys					CLIP4_ENST00000401617.2_Missense_Mutation_p.R40C|CLIP4_ENST00000401605.1_Missense_Mutation_p.R147C|CLIP4_ENST00000404424.1_Missense_Mutation_p.R147C	p.R147C	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN			5	694	+	Acute lymphoblastic leukemia(172;0.155)		147					A0AV10|B2RMQ3|B7Z7N8|Q7Z4U3|Q96BR7|Q96MA5|Q9H7C0	Missense_Mutation	SNP	ENST00000320081.5	37	c.439C>T	CCDS1770.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.909199	0.92107	.	.	ENSG00000115295	ENST00000401605;ENST00000401617;ENST00000404424;ENST00000402240;ENST00000320081;ENST00000379543;ENST00000449202;ENST00000438819;ENST00000530644	T;T;T;T;T;T	0.53857	0.6;0.62;0.6;0.6;0.6;0.6	5.55	5.55	0.83447	Ankyrin repeat-containing domain (4);	0.107305	0.64402	D	0.000003	T	0.64875	0.2638	L	0.38649	1.16	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.65874	0.911;0.939	T	0.67169	-0.5738	10	0.87932	D	0	.	19.5055	0.95113	0.0:1.0:0.0:0.0	.	147;147	A8K6D0;Q8N3C7	.;CLIP4_HUMAN	C	147;40;147;147;147;148;147;40;129	ENSP00000384242:R147C;ENSP00000385148:R40C;ENSP00000385594:R147C;ENSP00000327009:R147C;ENSP00000393354:R147C;ENSP00000392296:R40C	ENSP00000327009:R147C	R	+	1	0	CLIP4	29210096	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	7.764000	0.85297	2.604000	0.88044	0.650000	0.86243	CGC		0.368	CLIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215123.2	NM_024692		8	125	0	0	0	0.278610	0	8	125				
LCLAT1	253558	broad.mit.edu	37	2	30863465	30863465	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr2:30863465A>G	ENST00000309052.4	+	7	1434	c.1225A>G	c.(1225-1227)Aat>Gat	p.N409D	LCLAT1_ENST00000540623.1_Missense_Mutation_p.N371D|LCLAT1_ENST00000491680.2_3'UTR|LCLAT1_ENST00000379509.3_Missense_Mutation_p.N371D	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	409					cardiolipin acyl-chain remodeling (GO:0035965)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|multicellular organismal development (GO:0007275)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						GCCACATTTAAATTCAAAGAA	0.343																																						ENST00000309052.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						c.(1225-1227)Aat>Gat		lysocardiolipin acyltransferase 1							59.0	61.0	61.0					2																	30863465		2193	4296	6489	SO:0001583	missense	253558				multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr2:30863465A>G	AK095284	CCDS1772.1, CCDS42670.1	2p23.1	2008-12-15	2008-12-15	2008-12-15	ENSG00000172954	ENSG00000172954			26756	protein-coding gene	gene with protein product		614241	"""lysocardiolipin acyltransferase"""	LYCAT		18931347, 15152008, 16620771, 17675553	Standard	NM_001002257		Approved	FLJ37965, ALCAT1, AGPAT8	uc002rnl.3	Q6UWP7	OTTHUMG00000099349	ENST00000309052.4:c.1225A>G	2.37:g.30863465A>G	ENSP00000310551:p.Asn409Asp					LCLAT1_ENST00000540623.1_Missense_Mutation_p.N371D|LCLAT1_ENST00000379509.3_Missense_Mutation_p.N371D|LCLAT1_ENST00000491680.2_3'UTR	p.N409D	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN			7	1434	+			409					A6H8Z7|Q8N1Q7	Missense_Mutation	SNP	ENST00000309052.4	37	c.1225A>G	CCDS1772.1	.	.	.	.	.	.	.	.	.	.	A	0.011	-1.721129	0.00700	.	.	ENSG00000172954	ENST00000379509;ENST00000309052;ENST00000540623	T;T;T	0.29917	1.61;1.55;1.61	6.03	0.97	0.19692	.	1.507620	0.03294	N	0.188038	T	0.16642	0.0400	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.17868	-1.0355	10	0.34782	T	0.22	-7.8006	4.7062	0.12851	0.285:0.359:0.356:0.0	.	409	Q6UWP7	LCLT1_HUMAN	D	371;409;371	ENSP00000368823:N371D;ENSP00000310551:N409D;ENSP00000442857:N371D	ENSP00000310551:N409D	N	+	1	0	LCLAT1	30716969	0.000000	0.05858	0.007000	0.13788	0.001000	0.01503	0.143000	0.16115	0.171000	0.19730	-0.379000	0.06801	AAT		0.343	LCLAT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000216780.1	NM_182551		17	150	0	0	0	0.592651	0	17	150				
TDG	6996	broad.mit.edu	37	12	104374683	104374683	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr12:104374683C>T	ENST00000392872.3	+	4	655	c.421C>T	c.(421-423)Ccg>Tcg	p.P141S	TDG_ENST00000542036.1_5'UTR|TDG_ENST00000544861.1_5'UTR|TDG_ENST00000266775.9_Missense_Mutation_p.P137S	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	141					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|chromatin modification (GO:0016568)|depyrimidination (GO:0045008)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|embryo development (GO:0009790)|mismatch repair (GO:0006298)|negative regulation of chromatin binding (GO:0035562)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression, epigenetic (GO:0040029)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|double-stranded DNA binding (GO:0003690)|mismatched DNA binding (GO:0030983)|protein homodimerization activity (GO:0042803)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|RNA polymerase II transcription cofactor activity (GO:0001104)|structure-specific DNA binding (GO:0043566)			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		TGGCATAAACCCGGGACTAAT	0.363								Base excision repair (BER), DNA glycosylases																														ENST00000392872.3																			0				large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(421-423)Ccg>Tcg	Base excision repair (BER), DNA glycosylases	thymine-DNA glycosylase							151.0	148.0	149.0					12																	104374683		2203	4300	6503	SO:0001583	missense	6996				depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity	g.chr12:104374683C>T	U51166	CCDS9095.1	12q24.1	2014-05-14			ENSG00000139372	ENSG00000139372	3.2.2.29		11700	protein-coding gene	gene with protein product	"""G/T mismatch-specific thymine DNA glycosylase"""	601423				8662714, 9299239	Standard	NM_003211		Approved		uc001tkg.3	Q13569	OTTHUMG00000168418	ENST00000392872.3:c.421C>T	12.37:g.104374683C>T	ENSP00000376611:p.Pro141Ser					TDG_ENST00000542036.1_5'UTR|TDG_ENST00000544861.1_5'UTR|TDG_ENST00000266775.9_Missense_Mutation_p.P137S	p.P141S	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00114)	4	655	+			141					Q8IUZ6|Q8IZM3	Missense_Mutation	SNP	ENST00000392872.3	37	c.421C>T	CCDS9095.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.546628	0.86022	.	.	ENSG00000139372	ENST00000392872;ENST00000436021;ENST00000266775;ENST00000537100	D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81	4.56	4.56	0.56223	Uracil-DNA glycosylase-like (3);	0.000000	0.85682	D	0.000000	D	0.94955	0.8368	H	0.95917	3.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.993	D	0.96607	0.9449	10	0.66056	D	0.02	-15.0002	17.6885	0.88262	0.0:1.0:0.0:0.0	.	141;141	B2R848;Q13569	.;TDG_HUMAN	S	141;116;137;141	ENSP00000376611:P141S;ENSP00000390167:P116S;ENSP00000266775:P137S;ENSP00000439825:P141S	ENSP00000266775:P137S	P	+	1	0	TDG	102898813	1.000000	0.71417	0.995000	0.50966	0.926000	0.56050	7.423000	0.80229	2.250000	0.74265	0.557000	0.71058	CCG		0.363	TDG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399673.2			23	208	0	0	0	0.681144	0	23	208				
SPATA31E1	286234	broad.mit.edu	37	9	90501762	90501762	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr9:90501762G>A	ENST00000325643.5	+	4	2426	c.2360G>A	c.(2359-2361)cGc>cAc	p.R787H		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	787					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CCTGTGCGTCGCTCCTGGCTC	0.577																																						ENST00000325643.5																			0											c.(2359-2361)cGc>cAc		SPATA31 subfamily E, member 1							88.0	92.0	91.0					9																	90501762		2203	4300	6503	SO:0001583	missense	286234							g.chr9:90501762G>A	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.2360G>A	9.37:g.90501762G>A	ENSP00000322640:p.Arg787His						p.R787H	NM_178828.4	NP_849150.3					4	2426	+								B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	c.2360G>A	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	g	3.946	-0.013274	0.07727	.	.	ENSG00000177992	ENST00000325643;ENST00000539327	T	0.08458	3.09	2.43	-4.86	0.03132	.	2.119030	0.02517	N	0.092089	T	0.13970	0.0338	L	0.31578	0.945	0.09310	N	1	P;D	0.89917	0.777;1.0	B;P	0.60886	0.1;0.88	T	0.38001	-0.9681	10	0.66056	D	0.02	.	6.8571	0.24046	0.3438:0.0:0.5273:0.1289	.	787;439	Q6ZUB1;Q8NA33	CI079_HUMAN;.	H	787;439	ENSP00000322640:R787H	ENSP00000322640:R787H	R	+	2	0	C9orf79	89691582	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.817000	0.04472	-2.766000	0.00367	-2.217000	0.00297	CGC		0.577	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		26	178	0	0	0	0.667858	0	26	178				
ABCA2	20	broad.mit.edu	37	9	139912486	139912486	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr9:139912486C>T	ENST00000371605.3	-	14	2179	c.2032G>A	c.(2032-2034)Gat>Aat	p.D678N	ABCA2_ENST00000341511.6_Missense_Mutation_p.D679N|ABCA2_ENST00000265662.5_Missense_Mutation_p.D679N|ABCA2_ENST00000492260.1_5'Flank			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	678					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TCCACCACATCGTGCCCCACA	0.662																																						ENST00000265662.5																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41						c.(2035-2037)Gat>Aat		ATP-binding cassette, sub-family A (ABC1), member 2							39.0	44.0	42.0					9																	139912486		2080	4210	6290	SO:0001583	missense	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139912486C>T	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.2032G>A	9.37:g.139912486C>T	ENSP00000360666:p.Asp678Asn					ABCA2_ENST00000371605.3_Missense_Mutation_p.D678N|ABCA2_ENST00000341511.6_Missense_Mutation_p.D679N	p.D679N			Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	15	2182	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	678					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37	c.2035G>A		.	.	.	.	.	.	.	.	.	.	c	13.37	2.218092	0.39201	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.95307	-3.67;-3.67;-3.67	3.22	3.22	0.36961	.	0.000000	0.64402	U	0.000001	D	0.93494	0.7924	L	0.36672	1.1	0.58432	D	0.999996	D;D	0.76494	0.999;0.997	P;P	0.56434	0.798;0.74	D	0.91678	0.5356	10	0.25106	T	0.35	.	14.5887	0.68347	0.0:1.0:0.0:0.0	.	678;709	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	N	679;678;709;679	ENSP00000265662:D679N;ENSP00000360666:D678N;ENSP00000344155:D679N	ENSP00000265662:D679N	D	-	1	0	ABCA2	139032307	1.000000	0.71417	0.981000	0.43875	0.158000	0.22134	7.314000	0.78988	1.639000	0.50556	0.306000	0.20318	GAT		0.662	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		10	36	0	0	0	0.411799	0	10	36				
FRMD8	83786	broad.mit.edu	37	11	65167269	65167269	+	Missense_Mutation	SNP	G	G	A	rs569673889	byFrequency	TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr11:65167269G>A	ENST00000317568.5	+	8	1029	c.866G>A	c.(865-867)cGc>cAc	p.R289H	FRMD8_ENST00000416776.2_Missense_Mutation_p.R255H|FRMD8_ENST00000355991.5_Missense_Mutation_p.R233H	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	289	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						CGGGGTGGGCGCAAGCCAGTT	0.632													G|||	2	0.000399361	0.0	0.0	5008	,	,		17708	0.0		0.001	False		,,,				2504	0.001					ENST00000317568.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						c.(865-867)cGc>cAc		FERM domain containing 8							72.0	74.0	73.0					11																	65167269		2201	4297	6498	SO:0001583	missense	83786					cytoskeleton	binding	g.chr11:65167269G>A	AK074850	CCDS8102.1, CCDS73320.1	11q13.1	2007-08-14			ENSG00000126391	ENSG00000126391			25462	protein-coding gene	gene with protein product						12477932	Standard	NM_031904		Approved	FLJ90369, FKSG44	uc001odu.4	Q9BZ67	OTTHUMG00000166275	ENST00000317568.5:c.866G>A	11.37:g.65167269G>A	ENSP00000319726:p.Arg289His					FRMD8_ENST00000416776.2_Missense_Mutation_p.R255H|FRMD8_ENST00000355991.5_Missense_Mutation_p.R233H	p.R289H	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN			8	1029	+			289			FERM.		B4E2P1|Q86V56|Q8NCB5	Missense_Mutation	SNP	ENST00000317568.5	37	c.866G>A	CCDS8102.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.111830	0.77210	.	.	ENSG00000126391	ENST00000317568;ENST00000355991;ENST00000416776	D;T;D	0.84298	-1.81;-1.23;-1.83	4.57	3.65	0.41850	FERM domain (1);	0.123072	0.56097	N	0.000032	D	0.88433	0.6435	L	0.59436	1.845	0.58432	D	0.999999	D;D;P	0.76494	0.999;0.998;0.943	P;P;P	0.62014	0.828;0.897;0.492	D	0.87662	0.2535	10	0.51188	T	0.08	-13.1092	11.0596	0.47940	0.0941:0.0:0.9059:0.0	.	255;233;289	B4E2P1;Q9BZ67-2;Q9BZ67	.;.;FRMD8_HUMAN	H	289;233;255	ENSP00000319726:R289H;ENSP00000348270:R233H;ENSP00000392111:R255H	ENSP00000319726:R289H	R	+	2	0	FRMD8	64923845	1.000000	0.71417	0.962000	0.40283	0.985000	0.73830	5.529000	0.67135	1.045000	0.40225	0.561000	0.74099	CGC		0.632	FRMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388833.1	NM_031904		4	131	0	0	0	0.150653	0	4	131				
POM121	9883	broad.mit.edu	37	7	72413896	72413896	+	Missense_Mutation	SNP	A	A	G	rs201049716		TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr7:72413896A>G	ENST00000434423.2	+	11	3364	c.3364A>G	c.(3364-3366)Acc>Gcc	p.T1122A	POM121_ENST00000358357.3_Missense_Mutation_p.T857A|POM121_ENST00000446813.1_Missense_Mutation_p.T857A|POM121_ENST00000257622.4_Missense_Mutation_p.T857A|POM121_ENST00000395270.1_Missense_Mutation_p.T857A			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1122	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.T857A(8)		NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				AGGCTCCAGCACCACCACCGG	0.637																																						ENST00000395270.1																			8	Substitution - Missense(8)	p.T857A(8)	lung(4)|kidney(4)	NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2569-2571)Acc>Gcc		POM121 transmembrane nucleoporin							32.0	30.0	30.0					7																	72413896		2201	4299	6500	SO:0001583	missense	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72413896A>G	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.3364A>G	7.37:g.72413896A>G	ENSP00000405562:p.Thr1122Ala					POM121_ENST00000358357.3_Missense_Mutation_p.T857A|POM121_ENST00000446813.1_Missense_Mutation_p.T857A|POM121_ENST00000257622.4_Missense_Mutation_p.T857A|POM121_ENST00000434423.2_Missense_Mutation_p.T1122A	p.T857A	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN			14	3610	+		Lung NSC(55;0.163)	1122			Pore side (Potential).|Thr-rich.		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37	c.2569A>G		56	0.02564102564102564	11	0.022357723577235773	14	0.03867403314917127	19	0.033216783216783216	12	0.0158311345646438	G	2.480	-0.319876	0.05386	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.05649	3.46;3.41;3.46;3.41;3.71	2.86	-2.18	0.07037	.	0.720175	0.11383	N	0.569582	T	0.00724	0.0024	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.42275	-0.9461	10	0.36615	T	0.2	.	4.8571	0.13564	0.1842:0.0:0.3666:0.4491	.	857;1122	A8MXF9;Q96HA1	.;P121A_HUMAN	A	857;857;857;857;1122	ENSP00000393020:T857A;ENSP00000257622:T857A;ENSP00000378687:T857A;ENSP00000351124:T857A;ENSP00000405562:T1122A	ENSP00000257622:T857A	T	+	1	0	POM121	72051832	0.360000	0.24964	0.406000	0.26421	0.004000	0.04260	0.000000	0.12993	-0.499000	0.06623	-2.511000	0.00188	ACC		0.637	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			3	57	0	0	0	0.115264	0	3	57				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522815	95522815	+	RNA	SNP	A	A	G	rs372261324		TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr2:95522815A>G	ENST00000432432.2	-	0	212					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene																		ATCTTCTGCAATTCGGAGTCC	0.652																																						ENST00000432432.2																			0																																																			0							g.chr2:95522815A>G			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522815A>G								NR_040113.1						0	212	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.652	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			4	132	0	0	0	0.278610	0	4	132				
CEP41	95681	broad.mit.edu	37	7	130038826	130038826	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr7:130038826C>T	ENST00000223208.5	-	11	1298	c.1028G>A	c.(1027-1029)cGa>cAa	p.R343Q	CEP41_ENST00000541543.1_Missense_Mutation_p.R255Q|CEP41_ENST00000343969.5_Missense_Mutation_p.R271Q	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	343					cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein polyglutamylation (GO:0018095)|protein transport (GO:0015031)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|primary cilium (GO:0072372)											CTGAGCGCTTCGGGCACCAGG	0.577																																						ENST00000223208.4																			0											c.(1027-1029)cGa>cAa		centrosomal protein 41kDa							106.0	121.0	116.0					7																	130038826		2203	4300	6503	SO:0001583	missense	95681				G2/M transition of mitotic cell cycle	centrosome|cytosol		g.chr7:130038826C>T	AJ278890	CCDS5821.1, CCDS59078.1, CCDS59079.1, CCDS59080.1	7q32	2014-02-20	2011-10-04	2011-10-04	ENSG00000106477	ENSG00000106477			12370	protein-coding gene	gene with protein product		610523	"""testis specific, 14"""	TSGA14		14654843, 22246503	Standard	NM_018718		Approved	DKFZp762H1311, FLJ22445, JBTS15	uc003vpz.4	Q9BYV8	OTTHUMG00000157823	ENST00000223208.5:c.1028G>A	7.37:g.130038826C>T	ENSP00000223208:p.Arg343Gln					CEP41_ENST00000541543.1_Missense_Mutation_p.R255Q|CEP41_ENST00000343969.5_Missense_Mutation_p.R271Q	p.R343Q	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN			11	1298	-			343					A4D1M0|B4DQ35|F5H0V6|Q7Z496|Q86TM1|Q8NFU8|Q9H6A3|Q9NPV3	Missense_Mutation	SNP	ENST00000223208.5	37	c.1028G>A	CCDS5821.1	.	.	.	.	.	.	.	.	.	.	C	5.331	0.246316	0.10130	.	.	ENSG00000106477	ENST00000223208;ENST00000541543;ENST00000343969	D;D;D	0.90385	-2.66;-2.17;-2.5	5.63	4.74	0.60224	.	0.192970	0.41396	D	0.000884	D	0.89842	0.6832	M	0.69823	2.125	0.09310	N	1	B;B;D	0.58268	0.007;0.429;0.982	B;B;B	0.44108	0.001;0.062;0.441	D	0.84040	0.0364	10	0.46703	T	0.11	-6.1853	12.9098	0.58173	0.0:0.8015:0.1985:0.0	.	255;271;343	F5H0V6;Q9BYV8-2;Q9BYV8	.;.;CEP41_HUMAN	Q	343;255;271	ENSP00000223208:R343Q;ENSP00000445888:R255Q;ENSP00000342738:R271Q	ENSP00000223208:R343Q	R	-	2	0	TSGA14	129826062	0.279000	0.24239	0.048000	0.18961	0.014000	0.08584	2.338000	0.43957	1.507000	0.48752	0.655000	0.94253	CGA		0.577	CEP41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349702.2	NM_018718		46	480	0	0	0	0.853193	0	46	480				
LDB1	8861	broad.mit.edu	37	10	103871263	103871263	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr10:103871263G>A	ENST00000425280.1	-	2	398	c.56C>T	c.(55-57)tCg>tTg	p.S19L	LDB1_ENST00000361198.5_5'UTR|LDB1_ENST00000490751.1_5'UTR	NM_001113407.1	NP_001106878.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	19					anterior/posterior axis specification (GO:0009948)|cellular component assembly (GO:0022607)|cerebellar Purkinje cell differentiation (GO:0021702)|epithelial structure maintenance (GO:0010669)|gastrulation with mouth forming second (GO:0001702)|hair follicle development (GO:0001942)|head development (GO:0060322)|histone H3-K4 acetylation (GO:0043973)|multicellular organismal development (GO:0007275)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|positive regulation of cell adhesion (GO:0045785)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery (GO:0000972)|Wnt signaling pathway (GO:0016055)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|enzyme binding (GO:0019899)|LIM domain binding (GO:0030274)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		CTCCTTCGGCGAGTACAGCTT	0.547																																						ENST00000425280.1																			0				breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21						c.(55-57)tCg>tTg		LIM domain binding 1							34.0	42.0	39.0					10																	103871263		692	1591	2283	SO:0001583	missense	8861				histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity	g.chr10:103871263G>A	AF068652	CCDS7528.1, CCDS44472.1	10q24-q25	2008-08-01			ENSG00000198728	ENSG00000198728			6532	protein-coding gene	gene with protein product	"""carboxy terminal LIM domain protein 2"""	603451				9503020, 9799849	Standard	NM_003893		Approved	NLI, CLIM2	uc009xwz.3	Q86U70	OTTHUMG00000018950	ENST00000425280.1:c.56C>T	10.37:g.103871263G>A	ENSP00000392466:p.Ser19Leu					LDB1_ENST00000490751.1_5'UTR|LDB1_ENST00000361198.5_5'UTR	p.S19L	NM_001113407.1	NP_001106878.1	Q86U70	LDB1_HUMAN		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)	2	398	-		Colorectal(252;0.122)	19					B4DUC4|O75479|O96010|Q1EQX1|Q9UGM4	Missense_Mutation	SNP	ENST00000425280.1	37	c.56C>T	CCDS44472.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.806627	0.70682	.	.	ENSG00000198728	ENST00000425280	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	T	0.32793	0.0841	N	0.14661	0.345	0.53688	D	0.999979	P	0.43094	0.799	B	0.24974	0.057	T	0.41928	-0.9481	8	0.66056	D	0.02	-19.0681	18.165	0.89722	0.0:0.0:1.0:0.0	.	19	Q86U70	LDB1_HUMAN	L	19	.	ENSP00000392466:S19L	S	-	2	0	LDB1	103861253	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.274000	0.95731	2.575000	0.86900	0.561000	0.74099	TCG		0.547	LDB1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113407		42	62	0	0	0	0.840704	0	42	62				
GANAB	23193	broad.mit.edu	37	11	62400156	62400156	+	Missense_Mutation	SNP	T	T	G			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr11:62400156T>G	ENST00000356638.3	-	9	893	c.877A>C	c.(877-879)Atg>Ctg	p.M293L	GANAB_ENST00000346178.4_Missense_Mutation_p.M315L|GANAB_ENST00000540933.1_Missense_Mutation_p.M196L|GANAB_ENST00000534422.1_5'Flank|GANAB_ENST00000534779.1_Missense_Mutation_p.M201L	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	293					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	TACAAGGCCATTGGGTTGTAC	0.542																																					Melanoma(23;1005 1074 15747 18937)	ENST00000346178.4																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						c.(943-945)Atg>Ctg		glucosidase, alpha; neutral AB							221.0	211.0	214.0					11																	62400156		2202	4299	6501	SO:0001583	missense	23193				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	g.chr11:62400156T>G	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.877A>C	11.37:g.62400156T>G	ENSP00000349053:p.Met293Leu					GANAB_ENST00000356638.3_Missense_Mutation_p.M293L|GANAB_ENST00000534779.1_Missense_Mutation_p.M201L|GANAB_ENST00000540933.1_Missense_Mutation_p.M196L	p.M315L	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN			10	958	-			293					A6NC20|Q8WTS9|Q9P0X0	Missense_Mutation	SNP	ENST00000356638.3	37	c.943A>C	CCDS8026.1	.	.	.	.	.	.	.	.	.	.	T	16.63	3.177234	0.57692	.	.	ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933	D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97	5.19	5.19	0.71726	Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	D	0.92561	0.7637	M	0.66439	2.03	0.54753	D	0.999988	P;P;B;P	0.36733	0.541;0.541;0.335;0.567	B;B;B;P	0.44696	0.434;0.434;0.225;0.458	D	0.92942	0.6373	10	0.66056	D	0.02	-30.1188	13.0449	0.58920	0.0:0.0:0.0:1.0	.	179;201;293;315	B4DIW2;E9PKU7;Q14697;Q14697-2	.;.;GANAB_HUMAN;.	L	315;293;201;196	ENSP00000340466:M315L;ENSP00000349053:M293L;ENSP00000435306:M201L;ENSP00000442962:M196L	ENSP00000340466:M315L	M	-	1	0	GANAB	62156732	1.000000	0.71417	0.996000	0.52242	0.856000	0.48823	3.922000	0.56462	2.184000	0.69523	0.374000	0.22700	ATG		0.542	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334		24	554	0	0	0	0.693898	0	24	554				
FAM102A	399665	broad.mit.edu	37	9	130707146	130707146	+	Missense_Mutation	SNP	T	T	C	rs11558950		TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr9:130707146T>C	ENST00000373095.1	-	9	1324	c.949A>G	c.(949-951)Acc>Gcc	p.T317A	FAM102A_ENST00000300434.3_5'UTR|FAM102A_ENST00000373084.4_Missense_Mutation_p.T175A	NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN	family with sequence similarity 102, member A	317										breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						TCCACCCAGGTCGGGTGGCTC	0.607																																						ENST00000373095.1																			0				breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						c.(949-951)Acc>Gcc		family with sequence similarity 102, member A							68.0	54.0	59.0					9																	130707146		2203	4300	6503	SO:0001583	missense	399665							g.chr9:130707146T>C		CCDS6888.1, CCDS35150.1	9q34.11	2012-11-05	2005-11-17	2005-11-17	ENSG00000167106	ENSG00000167106			31419	protein-coding gene	gene with protein product	"""sym-3 homolog A (C. elegans)"""	610891	"""chromosome 9 open reading frame 132"""	C9orf132			Standard	NM_001035254		Approved	Eeig1, bA203J24.7, SYM-3A	uc004bsx.2	Q5T9C2	OTTHUMG00000020720	ENST00000373095.1:c.949A>G	9.37:g.130707146T>C	ENSP00000362187:p.Thr317Ala					FAM102A_ENST00000300434.3_5'UTR|FAM102A_ENST00000373084.4_Missense_Mutation_p.T175A	p.T317A	NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN			9	1324	-			317					A2A329|Q8TEL4	Missense_Mutation	SNP	ENST00000373095.1	37	c.949A>G	CCDS35150.1	.	.	.	.	.	.	.	.	.	.	T	16.43	3.121330	0.56613	.	.	ENSG00000167106	ENST00000373095;ENST00000373084	T;T	0.28069	1.63;1.63	5.61	4.43	0.53597	.	0.152388	0.56097	D	0.000023	T	0.31918	0.0812	M	0.62723	1.935	0.45648	D	0.998575	B	0.29378	0.243	B	0.28991	0.097	T	0.07635	-1.0762	10	0.51188	T	0.08	-29.7719	11.6012	0.51003	0.0:0.0:0.1494:0.8506	rs11558950	317	Q5T9C2	F102A_HUMAN	A	317;175	ENSP00000362187:T317A;ENSP00000362176:T175A	ENSP00000362176:T175A	T	-	1	0	FAM102A	129746967	0.999000	0.42202	0.913000	0.36048	0.990000	0.78478	3.258000	0.51507	0.913000	0.36797	0.460000	0.39030	ACC		0.607	FAM102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054298.2			3	91	0	0	0	0.115264	0	3	91				
PDE1A	5136	broad.mit.edu	37	2	183095781	183095781	+	Nonsense_Mutation	SNP	A	A	C			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr2:183095781A>C	ENST00000410103.1	-	6	626	c.543T>G	c.(541-543)taT>taG	p.Y181*	PDE1A_ENST00000351439.5_Nonsense_Mutation_p.Y165*|PDE1A_ENST00000536095.1_Nonsense_Mutation_p.Y77*|PDE1A_ENST00000456212.1_Nonsense_Mutation_p.Y181*|PDE1A_ENST00000409365.1_Nonsense_Mutation_p.Y165*|PDE1A_ENST00000358139.2_Nonsense_Mutation_p.Y181*|PDE1A_ENST00000331935.6_Nonsense_Mutation_p.Y181*|PDE1A_ENST00000346717.4_Nonsense_Mutation_p.Y147*|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000435564.1_Nonsense_Mutation_p.Y181*	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	181					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	TAAACAGTTCATAAATCATAA	0.323																																						ENST00000435564.1																			0				endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35						c.(541-543)taT>taG		phosphodiesterase 1A, calmodulin-dependent							129.0	132.0	131.0					2																	183095781		2203	4299	6502	SO:0001587	stop_gained	0				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr2:183095781A>C		CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"""Phosphodiesterases"""	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.543T>G	2.37:g.183095781A>C	ENSP00000387037:p.Tyr181*					PDE1A_ENST00000358139.2_Nonsense_Mutation_p.Y181*|PDE1A_ENST00000456212.1_Nonsense_Mutation_p.Y181*|PDE1A_ENST00000331935.6_Nonsense_Mutation_p.Y181*|PDE1A_ENST00000536095.1_Nonsense_Mutation_p.Y77*|PDE1A_ENST00000351439.5_Nonsense_Mutation_p.Y165*|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000346717.4_Nonsense_Mutation_p.Y147*|PDE1A_ENST00000410103.1_Nonsense_Mutation_p.Y181*|PDE1A_ENST00000409365.1_Nonsense_Mutation_p.Y165*	p.Y181*	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.061)		5	743	-			181					D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Nonsense_Mutation	SNP	ENST00000410103.1	37	c.543T>G	CCDS33344.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.089201	0.76756	.	.	ENSG00000115252	ENST00000435564;ENST00000346717;ENST00000536095;ENST00000409365;ENST00000331935;ENST00000351439;ENST00000410103;ENST00000358139;ENST00000456212	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.7393	0.77876	1.0:0.0:0.0:0.0	.	.	.	.	X	181;147;77;165;181;165;181;181;181	.	ENSP00000331574:Y181X	Y	-	3	2	PDE1A	182804026	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.189000	0.50965	2.308000	0.77769	0.533000	0.62120	TAT		0.323	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334356.1			38	251	0	0	0	0.804634	0	38	251				
MIB2	142678	broad.mit.edu	37	1	1563188	1563188	+	Silent	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr1:1563188C>T	ENST00000357210.4	+	13	2049	c.1833C>T	c.(1831-1833)cgC>cgT	p.R611R	MIB2_ENST00000505820.2_Silent_p.R668R|MIB2_ENST00000355826.5_Silent_p.R654R|MIB2_ENST00000504599.1_Silent_p.R567R|MIB2_ENST00000520777.1_Silent_p.R664R|MIB2_ENST00000518681.1_Silent_p.R603R|MIB2_ENST00000378708.1_Silent_p.R517R|MIB2_ENST00000378710.3_Silent_p.R575R|MIB2_ENST00000378712.1_Silent_p.R488R|MIB2_ENST00000360522.4_Silent_p.R576R	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	611					Notch signaling pathway (GO:0007219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	early endosome (GO:0005769)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGTGTGAGCGCGGCTGTGACG	0.692																																						ENST00000357210.4																			0				central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18						c.(1831-1833)cgC>cgT		mindbomb E3 ubiquitin protein ligase 2							24.0	32.0	29.0					1																	1563188		2183	4273	6456	SO:0001819	synonymous_variant	142678				Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:1563188C>T	AK097106	CCDS41224.1, CCDS41224.2, CCDS53261.1, CCDS53262.1, CCDS53263.1, CCDS53264.1	1p36.33	2013-01-10	2012-02-23	2005-04-01	ENSG00000197530	ENSG00000197530		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	30577	protein-coding gene	gene with protein product		611141	"""zinc finger, ZZ type with ankyrin repeat domain 1"", ""mindbomb homolog 2 (Drosophila)"""	ZZANK1		12761501	Standard	NM_080875		Approved	skeletrophin, ZZZ5, FLJ39787	uc001agg.3	Q96AX9	OTTHUMG00000074647	ENST00000357210.4:c.1833C>T	1.37:g.1563188C>T						MIB2_ENST00000378708.1_Silent_p.R517R|MIB2_ENST00000378710.3_Silent_p.R575R|MIB2_ENST00000378712.1_Silent_p.R488R|MIB2_ENST00000518681.1_Silent_p.R603R|MIB2_ENST00000360522.4_Silent_p.R576R|MIB2_ENST00000355826.5_Silent_p.R654R|MIB2_ENST00000520777.1_Silent_p.R664R|MIB2_ENST00000505820.2_Silent_p.R668R|MIB2_ENST00000504599.1_Silent_p.R567R	p.R611R	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	13	2049	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	611					A2AGM5|A2AGM6|B3KV93|B3KVF4|B3KXY1|B4DZ57|E9PGU1|E9PHQ1|F8WA73|J3KNZ7|Q7Z437|Q8IY62|Q8N786|Q8N897|Q8N8R2|Q8N911|Q8NB36|Q8NCY1|Q8NG59|Q8NG60|Q8NG61|Q8NI59|Q8WYN1	Silent	SNP	ENST00000357210.4	37	c.1833C>T		.	.	.	.	.	.	.	.	.	.	T	0.425	-0.906480	0.02453	.	.	ENSG00000197530	ENST00000514234	T	0.66815	-0.23	3.8	-7.6	0.01303	.	0.662303	0.15407	N	0.263978	T	0.61677	0.2366	.	.	.	0.41524	D	0.988411	.	.	.	.	.	.	T	0.65977	-0.6037	7	0.52906	T	0.07	-1.1639	6.5973	0.22681	0.216:0.5558:0.1007:0.1276	.	.	.	.	W	427	ENSP00000427680:R427W	ENSP00000427680:R427W	R	+	1	2	MIB2	1553051	0.000000	0.05858	0.001000	0.08648	0.089000	0.18198	-1.303000	0.02743	-2.338000	0.00627	-1.800000	0.00619	CGG		0.692	MIB2-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_080875		8	12	0	0	0	0.307466	0	8	12				
PLD3	23646	broad.mit.edu	37	19	40883897	40883897	+	Silent	SNP	C	C	G	rs199717679		TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr19:40883897C>G	ENST00000409587.1	+	13	1687	c.1290C>G	c.(1288-1290)acC>acG	p.T430T	PLD3_ENST00000409735.4_Silent_p.T430T|PLD3_ENST00000409419.1_Silent_p.T430T|PLD3_ENST00000356508.5_Silent_p.T430T|PLD3_ENST00000409281.1_Silent_p.T430T			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	430	PLD phosphodiesterase 2. {ECO:0000255|PROSITE-ProRule:PRU00153}.				cell death (GO:0008219)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phospholipase D activity (GO:0004630)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			CTCTAGGAACCTCCAACTGGT	0.647													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15753	0.0		0.0	False		,,,				2504	0.0					ENST00000409587.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(1288-1290)acC>acG		phospholipase D family, member 3							49.0	47.0	48.0					19																	40883897		2203	4300	6503	SO:0001819	synonymous_variant	0				lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding	g.chr19:40883897C>G	BC000553	CCDS33027.1	19q13.2	2014-03-14	2005-05-20		ENSG00000105223	ENSG00000105223			17158	protein-coding gene	gene with protein product		615698	"""phospholipase D3"""			9140189, 15794758	Standard	XM_005258704		Approved	HU-K4	uc002onj.4	Q8IV08	OTTHUMG00000152736	ENST00000409587.1:c.1290C>G	19.37:g.40883897C>G						PLD3_ENST00000409735.4_Silent_p.T430T|PLD3_ENST00000409281.1_Silent_p.T430T|PLD3_ENST00000409419.1_Silent_p.T430T|PLD3_ENST00000356508.5_Silent_p.T430T	p.T430T			Q8IV08	PLD3_HUMAN	Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)		13	1687	+			430			PLD phosphodiesterase 2.		Q92853|Q9BW87	Silent	SNP	ENST00000409587.1	37	c.1290C>G	CCDS33027.1																																																																																				0.647	PLD3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327721.1	NM_012268		23	139	0	0	0	0.639603	0	23	139				
GTF2IRD2P1	401375	broad.mit.edu	37	7	72685542	72685542	+	RNA	SNP	G	G	A	rs2539086		TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr7:72685542G>A	ENST00000425256.1	-	0	116									GTF2I repeat domain containing 2 pseudogene 1																		ACGTTACCATGACAAAAGCAG	0.463																																						ENST00000425256.1																			0																																																			0							g.chr7:72685542G>A	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72685542G>A								NR_002164.1						0	116	-									RNA	SNP	ENST00000425256.1	37																																																																																						0.463	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		5	274	0	0	0	0.278610	0	5	274				
COLCA1	399948	broad.mit.edu	37	11	111167023	111167023	+	Missense_Mutation	SNP	C	C	T	rs369492372		TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr11:111167023C>T	ENST00000532918.1	-	2	2586	c.181G>A	c.(181-183)Ggg>Agg	p.G61R	COLCA1_ENST00000526150.1_5'Flank|COLCA1_ENST00000540738.1_Missense_Mutation_p.G61R|COLCA1_ENST00000355430.4_Missense_Mutation_p.G61R|COLCA2_ENST00000398035.2_5'Flank			Q6ZS62	COLC1_HUMAN	colorectal cancer associated 1	61						integral component of membrane (GO:0016021)|membrane (GO:0016020)											TTACAGACCCCCTGACTTCCA	0.547																																						ENST00000532918.1																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(181-183)Ggg>Agg									114.0	85.0	95.0					11																	111167023		2201	4297	6498	SO:0001583	missense	0							g.chr11:111167023C>T	AK127703		11q23.1	2013-08-22	2013-08-22	2013-08-22	ENSG00000196167	ENSG00000196167			33789	other	unknown	"""cancer susceptibility candidate 12"""	615693	"""chromosome 11 open reading frame 92"""	C11orf92			Standard	NR_034154		Approved	FLJ45803, CASC12	uc001pld.3	Q6ZS62	OTTHUMG00000166658	ENST00000532918.1:c.181G>A	11.37:g.111167023C>T	ENSP00000437253:p.Gly61Arg					C11orf92_ENST00000355430.4_Missense_Mutation_p.G61R|C11orf92_ENST00000540738.1_Missense_Mutation_p.G61R	p.G61R							2	2586	-									Missense_Mutation	SNP	ENST00000532918.1	37	c.181G>A		.	.	.	.	.	.	.	.	.	.	C	12.89	2.074749	0.36566	.	.	ENSG00000196167	ENST00000532918;ENST00000355430;ENST00000540738	.	.	.	4.07	-3.7	0.04437	.	.	.	.	.	T	0.19127	0.0459	.	.	.	0.09310	N	1	B	0.25563	0.129	B	0.20767	0.031	T	0.29518	-1.0009	7	0.87932	D	0	.	0.6223	0.00780	0.2834:0.2478:0.2796:0.1892	.	61	Q6ZS62	CK092_HUMAN	R	61	.	ENSP00000347601:G61R	G	-	1	0	C11orf92	110672233	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-1.425000	0.02446	-0.461000	0.06993	0.561000	0.74099	GGG		0.547	COLCA1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000390999.1			7	126	0	0	0	0.278610	0	7	126				
ZW10	9183	broad.mit.edu	37	11	113628513	113628513	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr11:113628513T>C	ENST00000200135.3	-	7	940	c.796A>G	c.(796-798)Ata>Gta	p.I266V		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	266	Interaction with RINT1.				ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic metaphase plate congression (GO:0007080)|mitotic sister chromatid segregation (GO:0000070)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|protein transport (GO:0015031)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|nucleus (GO:0005634)|spindle pole (GO:0000922)	centromeric DNA binding (GO:0019237)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		TGGCTTTCTATCACAGCATGA	0.378																																						ENST00000200135.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18						c.(796-798)Ata>Gta		zw10 kinetochore protein							80.0	82.0	82.0					11																	113628513		2201	4296	6497	SO:0001583	missense	9183				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding	g.chr11:113628513T>C	U54996	CCDS8363.1	11q23	2013-01-17	2012-12-13		ENSG00000086827	ENSG00000086827			13194	protein-coding gene	gene with protein product		603954	"""ZW10 (Drosophila) homolog, centromere/kinetochore protein"", ""ZW10, kinetochore associated, homolog (Drosophila)"""			9298984	Standard	NM_004724		Approved	KNTC1AP	uc001poe.3	O43264	OTTHUMG00000168190	ENST00000200135.3:c.796A>G	11.37:g.113628513T>C	ENSP00000200135:p.Ile266Val						p.I266V	NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)	7	940	-		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)	266			Interaction with RINT1.		A1A528	Missense_Mutation	SNP	ENST00000200135.3	37	c.796A>G	CCDS8363.1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.892290	0.00522	.	.	ENSG00000086827	ENST00000200135	T	0.36157	1.27	5.47	-1.02	0.10135	.	0.425883	0.28527	N	0.015022	T	0.09024	0.0223	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23190	-1.0195	10	0.14252	T	0.57	-1.9234	2.5907	0.04841	0.1192:0.345:0.1229:0.413	.	266	O43264	ZW10_HUMAN	V	266	ENSP00000200135:I266V	ENSP00000200135:I266V	I	-	1	0	ZW10	113133723	0.000000	0.05858	0.836000	0.33094	0.200000	0.23975	-0.562000	0.05950	-0.193000	0.10415	-0.256000	0.11100	ATA		0.378	ZW10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398700.1	NM_004724		16	147	0	0	0	0.479597	0	16	147				
CDK11B	984	broad.mit.edu	37	1	1586881	1586881	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr1:1586881G>A	ENST00000407249.3	-	2	168	c.169C>T	c.(169-171)Cgc>Tgc	p.R57C	CDK11B_ENST00000317673.7_Missense_Mutation_p.R57C|CDK11B_ENST00000341832.6_Missense_Mutation_p.R23C|CDK11B_ENST00000340677.5_Missense_Mutation_p.R57C			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	57			R -> C (in dbSNP:rs17424353). {ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:8195233}.		apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						atctccatgcggtgatctctc	0.463																																						ENST00000407249.3																			0				endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						c.(169-171)Cgc>Tgc		cyclin-dependent kinase 11B							98.0	92.0	94.0					1																	1586881		1862	4097	5959	SO:0001583	missense	984				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr1:1586881G>A	AK000081	CCDS72682.1, CCDS72683.1, CCDS72684.1	1p36.33	2013-09-24	2009-12-16	2009-12-16	ENSG00000248333	ENSG00000248333		"""Cyclin-dependent kinases"""	1729	protein-coding gene	gene with protein product		176873	"""cell division cycle 2-like 1 (PITSLRE proteins)"""	CDC2L1		1774066, 14511641, 19884882	Standard	XM_006711061		Approved	CDK11-p110, CDK11-p58, CDK11-p46	uc001agv.1	P21127	OTTHUMG00000078638	ENST00000407249.3:c.169C>T	1.37:g.1586881G>A	ENSP00000464036:p.Arg57Cys					CDK11B_ENST00000341832.6_Missense_Mutation_p.R23C|CDK11B_ENST00000317673.7_Missense_Mutation_p.R57C|CDK11B_ENST00000340677.5_Missense_Mutation_p.R57C	p.R57C			P21127	CD11B_HUMAN			2	168	-			57		R -> C (in dbSNP:rs17424353).			O95265|Q12817|Q12818|Q12819|Q12820|Q12822|Q8N530|Q9NZS5|Q9UBJ0|Q9UBQ1|Q9UBR0|Q9UNY2|Q9UP57|Q9UP58|Q9UP59	Missense_Mutation	SNP	ENST00000407249.3	37	c.169C>T																																																																																					0.463	CDK11B-204	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001787		3	86	0	0	0	0.115264	0	3	86				
CCDC87	55231	broad.mit.edu	37	11	66359044	66359044	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr11:66359044C>T	ENST00000333861.3	-	1	1510	c.1443G>A	c.(1441-1443)atG>atA	p.M481I	CCS_ENST00000533244.1_5'Flank|CCS_ENST00000310190.4_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	481					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TATCAATATCCATTTTTTCAA	0.458																																						ENST00000333861.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(1441-1443)atG>atA		coiled-coil domain containing 87							100.0	100.0	100.0					11																	66359044		2200	4295	6495	SO:0001583	missense	55231							g.chr11:66359044C>T	BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.1443G>A	11.37:g.66359044C>T	ENSP00000328487:p.Met481Ile						p.M481I	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN			1	1510	-			481					Q8NE76	Missense_Mutation	SNP	ENST00000333861.3	37	c.1443G>A	CCDS8145.1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.932873	0.34096	.	.	ENSG00000182791	ENST00000333861	T	0.33865	1.39	5.3	4.37	0.52481	.	0.145674	0.33272	N	0.005087	T	0.38665	0.1049	M	0.68317	2.08	0.38482	D	0.947744	P	0.47034	0.889	B	0.44224	0.444	T	0.42103	-0.9471	10	0.56958	D	0.05	.	9.9761	0.41783	0.0:0.9069:0.0:0.0931	.	481	Q9NVE4	CCD87_HUMAN	I	481	ENSP00000328487:M481I	ENSP00000328487:M481I	M	-	3	0	CCDC87	66115620	1.000000	0.71417	0.991000	0.47740	0.460000	0.32559	2.535000	0.45685	2.756000	0.94617	0.563000	0.77884	ATG		0.458	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1	NM_018219		14	311	0	0	0	0.500413	0	14	311				
IER3	8870	broad.mit.edu	37	6	30711944	30711944	+	Silent	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr6:30711944C>T	ENST00000259874.5	-	2	275	c.240G>A	c.(238-240)ccG>ccA	p.P80P	FLOT1_ENST00000470643.1_5'Flank|IER3_ENST00000376377.2_Missense_Mutation_p.E118K|XXbac-BPG252P9.10_ENST00000607333.1_RNA|FLOT1_ENST00000456573.2_5'Flank|FLOT1_ENST00000376389.3_5'Flank	NM_003897.3	NP_003888.2	P46695	IEX1_HUMAN	immediate early response 3	80					anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glycolytic process (GO:0045820)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|negative regulation of systemic arterial blood pressure (GO:0003085)|positive regulation of protein catabolic process (GO:0045732)|regulation of DNA repair (GO:0006282)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of response to DNA damage stimulus (GO:2001020)|response to protozoan (GO:0001562)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				NS(1)	1						TGGCTGGGTTCGGTTCCTCGA	0.617																																						ENST00000376377.2																			0				NS(1)	1						c.(352-354)Gaa>Aaa		immediate early response 3							60.0	66.0	64.0					6																	30711944		2201	4294	6495	SO:0001819	synonymous_variant	8870				anatomical structure morphogenesis|anti-apoptosis|apoptosis	integral to membrane	protein binding	g.chr6:30711944C>T	AF083421	CCDS4689.1	6p21.3	2010-02-17			ENSG00000137331	ENSG00000137331			5392	protein-coding gene	gene with protein product		602996				8603392, 9703517	Standard	NM_003897		Approved	IEX-1, DIF-2, PRG1, IEX-1L	uc003nrn.3	P46695	OTTHUMG00000031265	ENST00000259874.5:c.240G>A	6.37:g.30711944C>T						IER3_ENST00000259874.5_Silent_p.P80P	p.E118K			P46695	IEX1_HUMAN			1	381	-			0					Q5SU30|Q92691|Q93044	Missense_Mutation	SNP	ENST00000259874.5	37	c.352G>A	CCDS4689.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.926932	0.52759	.	.	ENSG00000137331	ENST00000376377	.	.	.	4.4	-3.17	0.05202	.	.	.	.	.	T	0.04318	0.0119	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.38243	-0.9670	5	0.12103	T	0.63	.	4.5569	0.12141	0.2177:0.1672:0.524:0.0911	.	.	.	.	K	118	.	ENSP00000365557:E118K	E	-	1	0	IER3	30819923	0.329000	0.24696	0.130000	0.21974	0.974000	0.67602	-0.574000	0.05868	-1.007000	0.03408	0.456000	0.33151	GAA		0.617	IER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076578.2			5	167	0	0	0	0.248553	0	5	167				
PRDM7	11105	broad.mit.edu	37	16	90161057	90161057	+	5'Flank	SNP	G	G	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr16:90161057G>A	ENST00000569206.1	-	0	0				TUBB8P7_ENST00000567960.1_RNA|TUBB8P7_ENST00000564451.1_RNA			Q9NQW5	PRDM7_HUMAN	PR domain containing 7						regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CGTGAGCTGCGGGCGAGGACT	0.647																																						ENST00000564451.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr16:90161057G>A	AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"""Zinc fingers, C2H2-type"", ""-"""	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990		16.37:g.90161057G>A	Exception_encountered					TUBB8P7_ENST00000567960.1_RNA								0	894	+								A4Q9G8|Q08EM4|Q9NQW4	RNA	SNP	ENST00000569206.1	37																																																																																						0.647	PRDM7-009	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000420855.1			10	117	0	0	0	0.361761	0	10	117				
LRP1	4035	broad.mit.edu	37	12	57577624	57577624	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr12:57577624C>A	ENST00000243077.3	+	36	6327	c.5861C>A	c.(5860-5862)aCg>aAg	p.T1954K		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1954					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CGGGACCAGACGTGGCGTGAA	0.612																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(5860-5862)aCg>aAg		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						103.0	92.0	96.0					12																	57577624		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57577624C>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.5861C>A	12.37:g.57577624C>A	ENSP00000243077:p.Thr1954Lys						p.T1954K	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	36	6327	+			1954					Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.5861C>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.969705	0.92855	.	.	ENSG00000123384	ENST00000243077	D	0.91068	-2.78	4.94	4.94	0.65067	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000001	D	0.95771	0.8624	M	0.86805	2.84	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.96021	0.9009	10	0.59425	D	0.04	.	17.0951	0.86633	0.0:1.0:0.0:0.0	.	1954	Q07954	LRP1_HUMAN	K	1954	ENSP00000243077:T1954K	ENSP00000243077:T1954K	T	+	2	0	LRP1	55863891	1.000000	0.71417	0.959000	0.39883	0.789000	0.44602	7.651000	0.83577	2.580000	0.87095	0.561000	0.74099	ACG		0.612	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		3	119	1	0	0.004672	0.115264	0.00528139	3	119				
OR1C1	26188	broad.mit.edu	37	1	247920937	247920937	+	Missense_Mutation	SNP	C	C	T	rs373256453		TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr1:247920937C>T	ENST00000408896.2	-	1	1045	c.772G>A	c.(772-774)Gtc>Atc	p.V258I		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	258					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CTGAAATAGACGGCGATGGCT	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		20161	0.001		0.0	False		,,,				2504	0.0					ENST00000408896.2																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46						c.(772-774)Gtc>Atc		olfactory receptor, family 1, subfamily C, member 1		C	ILE/VAL	0,4084		0,0,2042	71.0	70.0	70.0		772	3.2	1.0	1		70	1,8419		0,1,4209	no	missense	OR1C1	NM_012353.2	29	0,1,6251	TT,TC,CC		0.0119,0.0,0.0080	possibly-damaging	258/315	247920937	1,12503	2042	4210	6252	SO:0001583	missense	26188				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247920937C>T	X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"""GPCR / Class A : Olfactory receptors"""	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.772G>A	1.37:g.247920937C>T	ENSP00000386138:p.Val258Ile						p.V258I	NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	1045	-	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	258					B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Missense_Mutation	SNP	ENST00000408896.2	37	c.772G>A	CCDS41481.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.741331	0.30865	0.0	1.19E-4	ENSG00000221888	ENST00000408896	T	0.00091	8.74	3.22	3.22	0.36961	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00178	0.0005	L	0.32530	0.975	0.09310	N	1	P	0.45126	0.851	P	0.47573	0.55	T	0.49995	-0.8879	9	0.66056	D	0.02	.	5.9827	0.19415	0.0:0.691:0.1975:0.1115	.	258	Q15619	OR1C1_HUMAN	I	258	ENSP00000386138:V258I	ENSP00000386138:V258I	V	-	1	0	OR1C1	245987560	0.000000	0.05858	0.986000	0.45419	0.279000	0.26890	-0.836000	0.04382	1.798000	0.52647	0.591000	0.81541	GTC		0.512	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096855.1			51	44	0	0	0	0.870114	0	51	44				
ACAN	176	broad.mit.edu	37	15	89401845	89401845	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr15:89401845G>A	ENST00000561243.1	+	11	6029	c.6029G>A	c.(6028-6030)aGc>aAc	p.S2010N	ACAN_ENST00000559004.1_Missense_Mutation_p.S2010N|ACAN_ENST00000439576.2_Missense_Mutation_p.S2010N|ACAN_ENST00000352105.7_Missense_Mutation_p.S2010N			P16112	PGCA_HUMAN	aggrecan	2020	CS-2.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GATTTTGCCAGCACCACCAAT	0.522																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(6028-6030)aGc>aAc		aggrecan							44.0	45.0	44.0					15																	89401845		1878	4108	5986	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89401845G>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.6029G>A	15.37:g.89401845G>A	ENSP00000453342:p.Ser2010Asn					ACAN_ENST00000352105.7_Missense_Mutation_p.S2010N|ACAN_ENST00000561243.1_Missense_Mutation_p.S2010N|ACAN_ENST00000559004.1_Missense_Mutation_p.S2010N	p.S2010N	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	6403	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		2010					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.6029G>A	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.077594	0.55753	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02682	4.48;4.2	5.15	5.15	0.70609	.	0.210963	0.23935	N	0.043113	T	0.07052	0.0179	L	0.36672	1.1	0.26649	N	0.972144	D;D	0.57257	0.979;0.972	P;P	0.55455	0.601;0.776	T	0.39210	-0.9625	10	0.23891	T	0.37	-0.5111	17.6194	0.88076	0.0:0.0:1.0:0.0	.	2010;2010	E7ENV9;E7EX88	.;.	N	2010;2010;1896	ENSP00000387356:S2010N;ENSP00000341615:S2010N	ENSP00000268134:S1896N	S	+	2	0	ACAN	87202849	0.983000	0.35010	0.654000	0.29608	0.456000	0.32438	4.139000	0.58024	2.380000	0.81148	0.655000	0.94253	AGC		0.522	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		3	102	0	0	0	0.150653	0	3	102				
ZNF76	7629	broad.mit.edu	37	6	35255507	35255507	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr6:35255507C>A	ENST00000373953.3	+	5	583	c.317C>A	c.(316-318)tCg>tAg	p.S106*	ZNF76_ENST00000339411.5_Nonsense_Mutation_p.S106*|ZNF76_ENST00000440666.2_Nonsense_Mutation_p.S80*	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	106					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						GCTGTGCCATCGGAGAGCACC	0.617																																					Esophageal Squamous(52;92 1039 20612 23956 34676)	ENST00000373953.3																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						c.(316-318)tCg>tAg		zinc finger protein 76							104.0	89.0	94.0					6																	35255507		2203	4300	6503	SO:0001587	stop_gained	7629				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:35255507C>A	M91592	CCDS4801.1, CCDS75435.1	6p21.31	2013-01-08	2011-02-25		ENSG00000065029	ENSG00000065029		"""Zinc fingers, C2H2-type"""	13149	protein-coding gene	gene with protein product		194549	"""zinc finger protein 76 (expressed in testis)"""	D6S229E		1427894	Standard	XM_005249364		Approved	Zfp523, ZNF523	uc003oki.1	P36508	OTTHUMG00000014564	ENST00000373953.3:c.317C>A	6.37:g.35255507C>A	ENSP00000363064:p.Ser106*					ZNF76_ENST00000440666.2_Nonsense_Mutation_p.S80*|ZNF76_ENST00000339411.5_Nonsense_Mutation_p.S106*	p.S106*	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN			5	583	+			106					Q9BQB2	Nonsense_Mutation	SNP	ENST00000373953.3	37	c.317C>A	CCDS4801.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.274475	0.40194	.	.	ENSG00000065029	ENST00000469195;ENST00000448999;ENST00000373953;ENST00000417184;ENST00000440666;ENST00000339411	.	.	.	4.95	4.07	0.47477	.	0.428825	0.17287	N	0.179784	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.824	0.52256	0.3184:0.6816:0.0:0.0	.	.	.	.	X	106;106;106;106;80;106	.	ENSP00000229405:S106X	S	+	2	0	ZNF76	35363485	0.019000	0.18553	0.001000	0.08648	0.000000	0.00434	2.794000	0.47853	1.286000	0.44565	-0.182000	0.12963	TCG		0.617	ZNF76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040279.2	NM_003427		3	125	1	0	0.115264	0.115264	0.123159	3	125				
BOD1L1	259282	broad.mit.edu	37	4	13604235	13604235	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr4:13604235A>G	ENST00000040738.5	-	10	4424	c.4289T>C	c.(4288-4290)gTa>gCa	p.V1430A		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1430						nucleus (GO:0005634)	DNA binding (GO:0003677)										GCCATTCTCTACTGTTGCTTT	0.378																																						ENST00000040738.5																			0											c.(4288-4290)gTa>gCa		biorientation of chromosomes in cell division 1-like 1							98.0	97.0	97.0					4																	13604235		2203	4299	6502	SO:0001583	missense	259282						DNA binding	g.chr4:13604235A>G	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.4289T>C	4.37:g.13604235A>G	ENSP00000040738:p.Val1430Ala						p.V1430A	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	4424	-			1430					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.4289T>C	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	A	9.881	1.201671	0.22121	.	.	ENSG00000038219	ENST00000040738	T	0.07800	3.16	4.87	-4.86	0.03132	.	0.951411	0.08609	N	0.920352	T	0.03477	0.0100	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.46679	-0.9174	10	0.19590	T	0.45	-1.3744	0.5639	0.00684	0.363:0.1098:0.2085:0.3188	.	1430	Q8NFC6	BOD1L_HUMAN	A	1430	ENSP00000040738:V1430A	ENSP00000040738:V1430A	V	-	2	0	BOD1L	13213333	0.000000	0.05858	0.001000	0.08648	0.028000	0.11728	-0.477000	0.06583	-0.360000	0.08138	-0.263000	0.10527	GTA		0.378	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		5	167	0	0	0	0.184627	0	5	167				
NDOR1	27158	broad.mit.edu	37	9	140110623	140110623	+	Silent	SNP	A	A	G			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr9:140110623A>G	ENST00000344894.5	+	13	1715	c.1632A>G	c.(1630-1632)gcA>gcG	p.A544A	NDOR1_ENST00000427047.2_Intron|NDOR1_ENST00000371521.4_Silent_p.A553A|NDOR1_ENST00000458322.2_Silent_p.A537A	NM_001144028.1|NM_014434.2	NP_001137500.1|NP_055249.1			NADPH dependent diflavin oxidoreductase 1											breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GCCAGGGTGCATACTTCTACC	0.642																																						ENST00000371521.4																			0				breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1657-1659)gcA>gcG		NADPH dependent diflavin oxidoreductase 1							51.0	52.0	51.0					9																	140110623		2203	4300	6503	SO:0001819	synonymous_variant	27158				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding	g.chr9:140110623A>G	BC015735	CCDS7036.1, CCDS48061.1, CCDS48062.1, CCDS48063.1	9q34.3	2008-02-05			ENSG00000188566	ENSG00000188566			29838	protein-coding gene	gene with protein product	"""NADPH dependent FMN and FAD containing oxidoreductase"""	606073				10625700, 12631275	Standard	XM_005266066		Approved	NR1, bA350O14.9	uc004clx.3	Q9UHB4	OTTHUMG00000020986	ENST00000344894.5:c.1632A>G	9.37:g.140110623A>G						NDOR1_ENST00000458322.2_Silent_p.A537A|NDOR1_ENST00000344894.5_Silent_p.A544A|NDOR1_ENST00000427047.2_Intron	p.A553A	NM_001144026.1	NP_001137498.1	Q9UHB4	NDOR1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	13	1742	+	all_cancers(76;0.0926)		544						Silent	SNP	ENST00000344894.5	37	c.1659A>G	CCDS7036.1																																																																																				0.642	NDOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254704.1	NM_014434		17	135	0	0	0	0.557998	0	17	135				
HS3ST4	9951	broad.mit.edu	37	16	26147367	26147367	+	Missense_Mutation	SNP	A	A	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr16:26147367A>T	ENST00000331351.5	+	2	1561	c.1169A>T	c.(1168-1170)aAa>aTa	p.K390I	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	390					heparan sulfate proteoglycan metabolic process (GO:0030201)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		TATTTCAACAAAACCAAGGGG	0.517																																						ENST00000331351.5																			0				breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15						c.(1168-1170)aAa>aTa		heparan sulfate (glucosamine) 3-O-sulfotransferase 4							56.0	54.0	55.0					16																	26147367		1568	3582	5150	SO:0001583	missense	9951				heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	g.chr16:26147367A>T	AF105378	CCDS53995.1	16p11.2	2008-03-12			ENSG00000182601	ENSG00000182601	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5200	protein-coding gene	gene with protein product		604059				9988767	Standard	NM_006040		Approved	3OST4	uc002dof.3	Q9Y661	OTTHUMG00000059978	ENST00000331351.5:c.1169A>T	16.37:g.26147367A>T	ENSP00000330606:p.Lys390Ile					HS3ST4_ENST00000475436.1_3'UTR	p.K390I	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN		GBM - Glioblastoma multiforme(48;0.0988)	2	1561	+			390					Q5QI42|Q8NDC2	Missense_Mutation	SNP	ENST00000331351.5	37	c.1169A>T	CCDS53995.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.530739	0.85706	.	.	ENSG00000182601	ENST00000331351	T	0.57752	0.38	5.56	5.56	0.83823	Sulfotransferase domain (1);	0.000000	0.64402	U	0.000001	T	0.71693	0.3370	M	0.80982	2.52	0.58432	D	0.999992	P	0.49307	0.922	P	0.61132	0.884	T	0.75712	-0.3222	10	0.66056	D	0.02	.	14.8801	0.70525	1.0:0.0:0.0:0.0	.	390	Q9Y661	HS3S4_HUMAN	I	390	ENSP00000330606:K390I	ENSP00000330606:K390I	K	+	2	0	HS3ST4	26054868	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.498000	0.81546	2.102000	0.63906	0.533000	0.62120	AAA		0.517	HS3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133286.2	NM_006040		21	85	0	0	0	0.608945	0	21	85				
STAB2	55576	broad.mit.edu	37	12	104139000	104139000	+	Silent	SNP	C	C	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr12:104139000C>A	ENST00000388887.2	+	57	6285	c.6081C>A	c.(6079-6081)tcC>tcA	p.S2027S	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TCACGGGCTCCGGGCAGTGCC	0.587																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(6079-6081)tcC>tcA		stabilin 2							76.0	63.0	67.0					12																	104139000		2203	4300	6503	SO:0001819	synonymous_variant	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104139000C>A	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.6081C>A	12.37:g.104139000C>A							p.S2027S	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			57	6285	+			2027						Silent	SNP	ENST00000388887.2	37	c.6081C>A	CCDS31888.1																																																																																				0.587	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			3	64	1	0	0.115264	0.115264	0.123159	3	64				
CELSR1	9620	broad.mit.edu	37	22	46929761	46929761	+	Missense_Mutation	SNP	C	C	T	rs145654024		TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr22:46929761C>T	ENST00000262738.3	-	1	3306	c.3307G>A	c.(3307-3309)Gac>Aac	p.D1103N	CELSR1_ENST00000497509.1_5'UTR|CELSR1_ENST00000395964.1_Missense_Mutation_p.D1103N	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1103					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ATCTGGAAGTCGGGCAGCACA	0.607																																						ENST00000262738.3																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(3307-3309)Gac>Aac		cadherin, EGF LAG seven-pass G-type receptor 1							170.0	172.0	172.0					22																	46929761		2203	4300	6503	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46929761C>T	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.3307G>A	22.37:g.46929761C>T	ENSP00000262738:p.Asp1103Asn					CELSR1_ENST00000497509.1_5'UTR|CELSR1_ENST00000395964.1_Missense_Mutation_p.D1103N	p.D1103N	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	1	3306	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1103					O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.3307G>A	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	C	8.932	0.963783	0.18583	.	.	ENSG00000075275	ENST00000262738;ENST00000395964	T;T	0.37584	1.19;1.19	4.53	4.53	0.55603	Cadherin-like (1);	0.152547	0.41712	U	0.000832	T	0.24736	0.0600	N	0.20445	0.575	0.39837	D	0.973053	B	0.24963	0.115	B	0.18871	0.023	T	0.06917	-1.0800	10	0.21014	T	0.42	.	16.8744	0.86047	0.0:1.0:0.0:0.0	.	1103	Q9NYQ6	CELR1_HUMAN	N	1103	ENSP00000262738:D1103N;ENSP00000379293:D1103N	ENSP00000262738:D1103N	D	-	1	0	CELSR1	45308425	0.941000	0.31946	0.995000	0.50966	0.805000	0.45488	1.715000	0.37971	2.068000	0.61886	0.462000	0.41574	GAC		0.607	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		32	324	0	0	0	0.796494	0	32	324				
SCPEP1	59342	broad.mit.edu	37	17	55072929	55072929	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr17:55072929C>T	ENST00000262288.3	+	8	774	c.719C>T	c.(718-720)gCc>gTc	p.A240V		NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1	240					negative regulation of blood pressure (GO:0045776)|positive regulation of vasodilation (GO:0045909)|retinoic acid metabolic process (GO:0042573)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					GTACTGAATGCCGTAAATAAG	0.483																																						ENST00000262288.3																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14						c.(718-720)gCc>gTc		serine carboxypeptidase 1							97.0	96.0	97.0					17																	55072929		2203	4300	6503	SO:0001583	missense	59342				proteolysis	extracellular region	serine-type carboxypeptidase activity	g.chr17:55072929C>T	AF282618	CCDS11593.1	17q22	2012-09-20			ENSG00000121064	ENSG00000121064			29507	protein-coding gene	gene with protein product	"""retinoid inducible serine carboxypeptidase"""					11447226, 12975309	Standard	NM_021626		Approved	RISC	uc002iuv.4	Q9HB40	OTTHUMG00000178129	ENST00000262288.3:c.719C>T	17.37:g.55072929C>T	ENSP00000262288:p.Ala240Val						p.A240V	NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN			8	774	+	Breast(9;2.86e-08)		240					Q96A94|Q9H3F0	Missense_Mutation	SNP	ENST00000262288.3	37	c.719C>T	CCDS11593.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.610689	0.46527	.	.	ENSG00000121064	ENST00000262288	D	0.86230	-2.09	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.93533	0.7936	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.90634	0.4569	10	0.15952	T	0.53	-4.4655	19.8612	0.96785	0.0:1.0:0.0:0.0	.	240	Q9HB40	RISC_HUMAN	V	240	ENSP00000262288:A240V	ENSP00000262288:A240V	A	+	2	0	SCPEP1	52427928	1.000000	0.71417	0.749000	0.31150	0.002000	0.02628	6.412000	0.73303	2.695000	0.91970	0.557000	0.71058	GCC		0.483	SCPEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440622.1	NM_021626		4	193	0	0	0	0.150653	0	4	193				
GABRA5	2558	broad.mit.edu	37	15	27128668	27128668	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr15:27128668G>A	ENST00000335625.5	+	6	1349	c.461G>A	c.(460-462)cGg>cAg	p.R154Q	GABRA5_ENST00000400081.3_Missense_Mutation_p.R154Q|GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000355395.5_Missense_Mutation_p.R154Q|GABRA5_ENST00000557449.1_Intron	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	154					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	AAGCTGCTGCGGCTGGAGGAC	0.677																																						ENST00000335625.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49						c.(460-462)cGg>cAg		gamma-aminobutyric acid (GABA) A receptor, alpha 5	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						37.0	38.0	38.0					15																	27128668		2199	4298	6497	SO:0001583	missense	2558				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27128668G>A		CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.461G>A	15.37:g.27128668G>A	ENSP00000335592:p.Arg154Gln					GABRA5_ENST00000557449.1_Intron|GABRA5_ENST00000400081.3_Missense_Mutation_p.R154Q|GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000355395.5_Missense_Mutation_p.R154Q	p.R154Q	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	6	1349	+		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	154					A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Missense_Mutation	SNP	ENST00000335625.5	37	c.461G>A	CCDS45194.1	.	.	.	.	.	.	.	.	.	.	G	37	6.170683	0.97343	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000555182;ENST00000400081;ENST00000554599	T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23	5.4	5.4	0.78164	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.89924	0.6856	M	0.87971	2.92	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91242	0.5022	10	0.87932	D	0	.	18.53	0.90987	0.0:0.0:1.0:0.0	.	154	P31644	GBRA5_HUMAN	Q	154;154;122;154;154	ENSP00000335592:R154Q;ENSP00000347557:R154Q;ENSP00000450653:R122Q;ENSP00000382953:R154Q;ENSP00000450717:R154Q	ENSP00000335592:R154Q	R	+	2	0	GABRA5	24679761	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.597000	0.98273	2.695000	0.91970	0.561000	0.74099	CGG		0.677	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1			8	43	0	0	0	0.278610	0	8	43				
RNF133	168433	broad.mit.edu	37	7	122338205	122338205	+	Silent	SNP	G	G	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr7:122338205G>A	ENST00000340112.2	-	1	1005	c.768C>T	c.(766-768)tgC>tgT	p.C256C	CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000313070.7_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	256					protein autoubiquitination (GO:0051865)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						AGCAAATTACGCAGCTATCCC	0.398																																					Colon(198;1778 2057 7449 19869 45985)	ENST00000340112.2																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						c.(766-768)tgC>tgT		ring finger protein 133							167.0	156.0	160.0					7																	122338205		2203	4300	6503	SO:0001819	synonymous_variant	168433					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding	g.chr7:122338205G>A	AF447589	CCDS5784.1	7q31.33	2013-01-09			ENSG00000188050	ENSG00000188050		"""RING-type (C3HC4) zinc fingers"""	21154	protein-coding gene	gene with protein product							Standard	NM_139175		Approved		uc003vkj.1	Q8WVZ7	OTTHUMG00000157092	ENST00000340112.2:c.768C>T	7.37:g.122338205G>A						CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron	p.C256C	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN			1	1005	-			256					A4D0W2|Q8N7G7	Silent	SNP	ENST00000340112.2	37	c.768C>T	CCDS5784.1																																																																																				0.398	RNF133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347413.1	NM_139175		122	355	0	0	0	0.870114	0	122	355				
CAPN13	92291	broad.mit.edu	37	2	30966407	30966407	+	Silent	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr2:30966407C>T	ENST00000295055.8	-	13	1463	c.1287G>A	c.(1285-1287)tcG>tcA	p.S429S	CAPN13_ENST00000534090.2_Silent_p.S429S	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	429					proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TGTTTCTGAACGAGGAAAAAA	0.473																																						ENST00000295055.8																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30						c.(1285-1287)tcG>tcA		calpain 13							147.0	139.0	142.0					2																	30966407		1847	4088	5935	SO:0001819	synonymous_variant	92291				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr2:30966407C>T		CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.1287G>A	2.37:g.30966407C>T						CAPN13_ENST00000534090.2_Silent_p.S429S	p.S429S	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN			13	1463	-	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)		429					Q17RF0|Q580X1|Q8TE80	Silent	SNP	ENST00000295055.8	37	c.1287G>A	CCDS46252.1																																																																																				0.473	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	NM_144575		99	134	0	0	0	0.870114	0	99	134				
NCAN	1463	broad.mit.edu	37	19	19337662	19337662	+	Silent	SNP	G	G	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr19:19337662G>A	ENST00000252575.6	+	7	1539	c.1440G>A	c.(1438-1440)agG>agA	p.R480R	NCAN_ENST00000538881.1_5'Flank	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	480					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	CTAGGAGAAGGGGGCGCTTCA	0.667																																						ENST00000252575.5																			0				breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(1438-1440)agG>agA		neurocan							29.0	30.0	30.0					19																	19337662		2203	4297	6500	SO:0001819	synonymous_variant	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19337662G>A	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.1440G>A	19.37:g.19337662G>A							p.R480R	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		7	1483	+			480					Q9UPK6	Silent	SNP	ENST00000252575.6	37	c.1440G>A	CCDS12397.1																																																																																				0.667	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		3	103	0	0	0	0.115264	0	3	103				
STAB2	55576	broad.mit.edu	37	12	104049284	104049284	+	Silent	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr12:104049284C>T	ENST00000388887.2	+	15	1863	c.1659C>T	c.(1657-1659)taC>taT	p.Y553Y	RP11-341G23.2_ENST00000551905.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GTGGACCATACACCATTTTTG	0.423																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(1657-1659)taC>taT		stabilin 2							173.0	148.0	157.0					12																	104049284		2203	4300	6503	SO:0001819	synonymous_variant	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104049284C>T	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.1659C>T	12.37:g.104049284C>T						RP11-341G23.2_ENST00000551905.1_RNA	p.Y553Y	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			15	1863	+			553			FAS1 2.			Silent	SNP	ENST00000388887.2	37	c.1659C>T	CCDS31888.1																																																																																				0.423	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			60	53	0	0	0	0.870114	0	60	53				
KLHL18	23276	broad.mit.edu	37	3	47361235	47361235	+	Silent	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr3:47361235C>T	ENST00000232766.5	+	2	242	c.222C>T	c.(220-222)tgC>tgT	p.C74C	KLHL18_ENST00000455924.2_Intron	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	74	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		TGATGGAGTGCAAGCAGGATG	0.493																																						ENST00000232766.5																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21						c.(220-222)tgC>tgT		kelch-like family member 18							243.0	205.0	218.0					3																	47361235		2203	4300	6503	SO:0001819	synonymous_variant	23276							g.chr3:47361235C>T	AB018338	CCDS33749.1	3p21	2013-01-30	2013-01-30		ENSG00000114648	ENSG00000114648		"""Kelch-like"", ""BTB/POZ domain containing"""	29120	protein-coding gene	gene with protein product			"""kelch-like 18 (Drosophila)"""			9872452	Standard	NM_025010		Approved	KIAA0795, FLJ13703	uc003crd.3	O94889	OTTHUMG00000156522	ENST00000232766.5:c.222C>T	3.37:g.47361235C>T						KLHL18_ENST00000455924.2_Intron	p.C74C	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)	2	242	+		Acute lymphoblastic leukemia(5;0.164)	74			BTB.		A8K612|Q7Z3E8|Q8N125	Silent	SNP	ENST00000232766.5	37	c.222C>T	CCDS33749.1																																																																																				0.493	KLHL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344493.1	NM_025010		16	279	0	0	0	0.500413	0	16	279				
RP11-1082L8.3	0	broad.mit.edu	37	8	125850042	125850043	+	lincRNA	INS	-	-	T	rs369227744|rs200453480|rs367880070		TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr8:125850042_125850043insT	ENST00000533496.1	-	0	293																											tccttccttccttccttccttc	0.386																																						ENST00000533496.1																			0																																																			0							g.chr8:125850042_125850043insT																													8.37:g.125850044_125850044dupT														0	293	-									RNA	INS	ENST00000533496.1	37																																																																																						0.386	RP11-1082L8.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000381819.1			5	2						5	2	---	---	---	---
FOLH1B	219595	broad.mit.edu	37	11	89409583	89409584	+	RNA	INS	-	-	TTT	rs112834075		TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr11:89409583_89409584insTTT	ENST00000532352.1	+	0	1261							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						tcttttcttacttttttttttt	0.347																																						ENST00000532352.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48								folate hydrolase 1B																																						219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89409583_89409584insTTT	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89409590_89409592dupTTT										Q9HBA9	FOH1B_HUMAN			0	1261	+									RNA	INS	ENST00000532352.1	37																																																																																						0.347	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		3	3						3	3	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577101	7577101	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr17:7577101delC	ENST00000269305.4	-	8	1026	c.837delG	c.(835-837)gggfs	p.G279fs	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Frame_Shift_Del_p.G279fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.G279fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.G279fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.G279fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	279	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).|G -> W (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.G279G(3)|p.?(2)|p.G279fs*65(2)|p.A276_R283delACPGRDRR(1)|p.G279V(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.G279E(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCCGGTCTCTCCCAGGACAGG	0.547		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		28	Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Substitution - coding silent(3)|Unknown(2)|Substitution - Missense(2)	p.0?(8)|p.G279G(3)|p.?(2)|p.G279fs*65(2)|p.A276_R283delACPGRDRR(1)|p.G279V(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.G279E(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)	upper_aerodigestive_tract(7)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|urinary_tract(3)|breast(3)|central_nervous_system(2)|oesophagus(2)|stomach(1)|skin(1)|ovary(1)|prostate(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CD963012	TP53	D		c.(835-837)ggfs	Other conserved DNA damage response genes	tumor protein p53							76.0	65.0	69.0					17																	7577101		2203	4300	6503	SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577101delC	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.837delG	17.37:g.7577101delC	ENSP00000269305:p.Gly279fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Frame_Shift_Del_p.G279fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.G279fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.G279fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.G279fs|TP53_ENST00000413465.2_Intron	p.G279fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	969	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	279		G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).|G -> W (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.837delG	CCDS11118.1																																																																																				0.547	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		90	20						90	20	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76907649	76907650	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chrX:76907649_76907650delTC	ENST00000373344.5	-	15	4725_4726	c.4511_4512delGA	c.(4510-4512)cgafs	p.R1504fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.R1466fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1504					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CAATACGTTTTCGTCTCTCTTC	0.386			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(4510-4512)cfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76907649_76907650delTC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4511_4512delGA	X.37:g.76907649_76907650delTC	ENSP00000362441:p.Arg1504fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.R1466fs	p.R1504fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			15	4725_4726	-			1504					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.4511_4512delGA	CCDS14434.1																																																																																				0.386	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		180	59						180	59	---	---	---	---
